Mercurial > repos > elixir-it > vinyl_optimizer
view old_version/R.vcf @ 2:6e4eb4856874 draft
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| author | elixir-it |
|---|---|
| date | Wed, 22 Jul 2020 19:20:30 +0000 |
| parents | |
| children |
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##fileformat=VCFv4.2 ##source=freeBayes v0.9.21-26-gbfd9832 ##reference=ucsc.hg19.fasta ##commandline="/usr/local/bin/freebayes -b DCM_1713_RGH.bam -f ucsc.hg19.fasta -t target_cardio.sorted.bed" ##INFO=<ID=technology.ILLUMINA,Number=A,Type=Float,Description="Fraction of observations supporting the alternate observed in reads from ILLUMINA"> ##source_20180905.1=vcf-merge(r953) DCM_100_RGH_Final_last.vcf.sorted.vcf.gz DCM_1678_RGH_Final_last.vcf.sorted.vcf.gz DCM_1839_RGH_Final_last.vcf.sorted.vcf.gz DCM_1026_RGH_Final_last.vcf.sorted.vcf.gz DCM_1679_RGH_Final_last.vcf.sorted.vcf.gz DCM_1938_RGH_Final_last.vcf.sorted.vcf.gz DCM_1060_RGH_Final_last.vcf.sorted.vcf.gz DCM_1680_RGH_Final_last.vcf.sorted.vcf.gz DCM_1949_RGH_Final_last.vcf.sorted.vcf.gz DCM_1193_RGH_Final_last.vcf.sorted.vcf.gz DCM_1682_RGH_Final_last.vcf.sorted.vcf.gz DCM_1956_RGH_Final_last.vcf.sorted.vcf.gz DCM_1200_RGH_Final_last.vcf.sorted.vcf.gz DCM_1683_RGH_Final_last.vcf.sorted.vcf.gz DCM_1958_RGH_Final_last.vcf.sorted.vcf.gz DCM_1206_RGH_Final_last.vcf.sorted.vcf.gz DCM_1688_RGH_Final_last.vcf.sorted.vcf.gz DCM_1982_RGH_Final_last.vcf.sorted.vcf.gz DCM_1242_RGH_Final_last.vcf.sorted.vcf.gz DCM_1689_RGH_Final_last.vcf.sorted.vcf.gz DCM_1983_RGH_Final_last.vcf.sorted.vcf.gz DCM_1257_RGH_Final_last.vcf.sorted.vcf.gz DCM_1690_RGH_Final_last.vcf.sorted.vcf.gz DCM_1993_RGH_Final_last.vcf.sorted.vcf.gz DCM_1259_RGH_Final_last.vcf.sorted.vcf.gz DCM_1691_RGH_Final_last.vcf.sorted.vcf.gz DCM_2004_RGH_Final_last.vcf.sorted.vcf.gz DCM_1260_RGH_Final_last.vcf.sorted.vcf.gz DCM_1692_RGH_Final_last.vcf.sorted.vcf.gz DCM_2005_RGH_Final_last.vcf.sorted.vcf.gz DCM_1329_RGH_Final_last.vcf.sorted.vcf.gz DCM_1695_RGH_Final_last.vcf.sorted.vcf.gz DCM_2006_RGH_Final_last.vcf.sorted.vcf.gz DCM_1341_RGH_Final_last.vcf.sorted.vcf.gz DCM_1711_RGH_Final_last.vcf.sorted.vcf.gz DCM_2007_RGH_Final_last.vcf.sorted.vcf.gz DCM_1343_RGH_Final_last.vcf.sorted.vcf.gz DCM_1713_RGH_Final_last.vcf.sorted.vcf.gz DCM_228_RGH_Final_last.vcf.sorted.vcf.gz DCM_1345_RGH_Final_last.vcf.sorted.vcf.gz DCM_1714_RGH_Final_last.vcf.sorted.vcf.gz DCM_278_RGH_Final_last.vcf.sorted.vcf.gz DCM_1372_RGH_Final_last.vcf.sorted.vcf.gz DCM_1716_RGH_Final_last.vcf.sorted.vcf.gz DCM_310_RGH_Final_last.vcf.sorted.vcf.gz DCM_1378_RGH_Final_last.vcf.sorted.vcf.gz DCM_1717_RGH_Final_last.vcf.sorted.vcf.gz DCM_311_RGH_Final_last.vcf.sorted.vcf.gz DCM_1397_RGH_Final_last.vcf.sorted.vcf.gz DCM_1718_RGH_Final_last.vcf.sorted.vcf.gz DCM_331_RGH_Final_last.vcf.sorted.vcf.gz DCM_1418_RGH_Final_last.vcf.sorted.vcf.gz DCM_1726_RGH_Final_last.vcf.sorted.vcf.gz DCM_341_RGH_Final_last.vcf.sorted.vcf.gz DCM_1450_RGH_Final_last.vcf.sorted.vcf.gz DCM_1728_RGH_Final_last.vcf.sorted.vcf.gz DCM_358_RGH_Final_last.vcf.sorted.vcf.gz DCM_1456_RGH_Final_last.vcf.sorted.vcf.gz DCM_1730_RGH_Final_last.vcf.sorted.vcf.gz DCM_365_RGH_Final_last.vcf.sorted.vcf.gz DCM_1476_RGH_Final_last.vcf.sorted.vcf.gz DCM_1745_RGH_Final_last.vcf.sorted.vcf.gz DCM_633_RGH_Final_last.vcf.sorted.vcf.gz DCM_1539_RGH_Final_last.vcf.sorted.vcf.gz DCM_1749_RGH_Final_last.vcf.sorted.vcf.gz DCM_680_RGH_Final_last.vcf.sorted.vcf.gz DCM_1560_RGH_Final_last.vcf.sorted.vcf.gz DCM_1760_RGH_Final_last.vcf.sorted.vcf.gz DCM_682_RGH_Final_last.vcf.sorted.vcf.gz DCM_1584_RGH_Final_last.vcf.sorted.vcf.gz DCM_1767_RGH_Final_last.vcf.sorted.vcf.gz DCM_686_RGH_Final_last.vcf.sorted.vcf.gz DCM_160_RGH_Final_last.vcf.sorted.vcf.gz DCM_1784_RGH_Final_last.vcf.sorted.vcf.gz DCM_714_RGH_Final_last.vcf.sorted.vcf.gz DCM_1667_RGH_Final_last.vcf.sorted.vcf.gz DCM_1796_RGH_Final_last.vcf.sorted.vcf.gz DCM_737_RGH_Final_last.vcf.sorted.vcf.gz DCM_1668_RGH_Final_last.vcf.sorted.vcf.gz DCM_1797_RGH_Final_last.vcf.sorted.vcf.gz DCM_76_RGH_Final_last.vcf.sorted.vcf.gz DCM_1669_RGH_Final_last.vcf.sorted.vcf.gz DCM_1801_RGH_Final_last.vcf.sorted.vcf.gz DCM_968_RGH_Final_last.vcf.sorted.vcf.gz DCM_1672_RGH_Final_last.vcf.sorted.vcf.gz DCM_1809_RGH_Final_last.vcf.sorted.vcf.gz DCM_98_RGH_Final_last.vcf.sorted.vcf.gz DCM_1673_RGH_Final_last.vcf.sorted.vcf.gz DCM_1816_RGH_Final_last.vcf.sorted.vcf.gz DCM_99_RGH_Final_last.vcf.sorted.vcf.gz DCM_1676_RGH_Final_last.vcf.sorted.vcf.gz DCM_1821_RGH_Final_last.vcf.sorted.vcf.gz NA_12878_RGH_Final_last.vcf.sorted.vcf.gz DCM_1677_RGH_Final_last.vcf.sorted.vcf.gz DCM_1838_RGH_Final_last.vcf.sorted.vcf.gz NA12878_RGH_Final_last.vcf.sorted.vcf.gz ##sourceFiles_20180905.1=0:DCM_100_RGH_Final_last.vcf.sorted.vcf.gz,1:DCM_1678_RGH_Final_last.vcf.sorted.vcf.gz,2:DCM_1839_RGH_Final_last.vcf.sorted.vcf.gz,3:DCM_1026_RGH_Final_last.vcf.sorted.vcf.gz,4:DCM_1679_RGH_Final_last.vcf.sorted.vcf.gz,5:DCM_1938_RGH_Final_last.vcf.sorted.vcf.gz,6:DCM_1060_RGH_Final_last.vcf.sorted.vcf.gz,7:DCM_1680_RGH_Final_last.vcf.sorted.vcf.gz,8:DCM_1949_RGH_Final_last.vcf.sorted.vcf.gz,9:DCM_1193_RGH_Final_last.vcf.sorted.vcf.gz,10:DCM_1682_RGH_Final_last.vcf.sorted.vcf.gz,11:DCM_1956_RGH_Final_last.vcf.sorted.vcf.gz,12:DCM_1200_RGH_Final_last.vcf.sorted.vcf.gz,13:DCM_1683_RGH_Final_last.vcf.sorted.vcf.gz,14:DCM_1958_RGH_Final_last.vcf.sorted.vcf.gz,15:DCM_1206_RGH_Final_last.vcf.sorted.vcf.gz,16:DCM_1688_RGH_Final_last.vcf.sorted.vcf.gz,17:DCM_1982_RGH_Final_last.vcf.sorted.vcf.gz,18:DCM_1242_RGH_Final_last.vcf.sorted.vcf.gz,19:DCM_1689_RGH_Final_last.vcf.sorted.vcf.gz,20:DCM_1983_RGH_Final_last.vcf.sorted.vcf.gz,21:DCM_1257_RGH_Final_last.vcf.sorted.vcf.gz,22:DCM_1690_RGH_Final_last.vcf.sorted.vcf.gz,23:DCM_1993_RGH_Final_last.vcf.sorted.vcf.gz,24:DCM_1259_RGH_Final_last.vcf.sorted.vcf.gz,25:DCM_1691_RGH_Final_last.vcf.sorted.vcf.gz,26:DCM_2004_RGH_Final_last.vcf.sorted.vcf.gz,27:DCM_1260_RGH_Final_last.vcf.sorted.vcf.gz,28:DCM_1692_RGH_Final_last.vcf.sorted.vcf.gz,29:DCM_2005_RGH_Final_last.vcf.sorted.vcf.gz,30:DCM_1329_RGH_Final_last.vcf.sorted.vcf.gz,31:DCM_1695_RGH_Final_last.vcf.sorted.vcf.gz,32:DCM_2006_RGH_Final_last.vcf.sorted.vcf.gz,33:DCM_1341_RGH_Final_last.vcf.sorted.vcf.gz,34:DCM_1711_RGH_Final_last.vcf.sorted.vcf.gz,35:DCM_2007_RGH_Final_last.vcf.sorted.vcf.gz,36:DCM_1343_RGH_Final_last.vcf.sorted.vcf.gz,37:DCM_1713_RGH_Final_last.vcf.sorted.vcf.gz,38:DCM_228_RGH_Final_last.vcf.sorted.vcf.gz,39:DCM_1345_RGH_Final_last.vcf.sorted.vcf.gz,40:DCM_1714_RGH_Final_last.vcf.sorted.vcf.gz,41:DCM_278_RGH_Final_last.vcf.sorted.vcf.gz,42:DCM_1372_RGH_Final_last.vcf.sorted.vcf.gz,43:DCM_1716_RGH_Final_last.vcf.sorted.vcf.gz,44:DCM_310_RGH_Final_last.vcf.sorted.vcf.gz,45:DCM_1378_RGH_Final_last.vcf.sorted.vcf.gz,46:DCM_1717_RGH_Final_last.vcf.sorted.vcf.gz,47:DCM_311_RGH_Final_last.vcf.sorted.vcf.gz,48:DCM_1397_RGH_Final_last.vcf.sorted.vcf.gz,49:DCM_1718_RGH_Final_last.vcf.sorted.vcf.gz,50:DCM_331_RGH_Final_last.vcf.sorted.vcf.gz,51:DCM_1418_RGH_Final_last.vcf.sorted.vcf.gz,52:DCM_1726_RGH_Final_last.vcf.sorted.vcf.gz,53:DCM_341_RGH_Final_last.vcf.sorted.vcf.gz,54:DCM_1450_RGH_Final_last.vcf.sorted.vcf.gz,55:DCM_1728_RGH_Final_last.vcf.sorted.vcf.gz,56:DCM_358_RGH_Final_last.vcf.sorted.vcf.gz,57:DCM_1456_RGH_Final_last.vcf.sorted.vcf.gz,58:DCM_1730_RGH_Final_last.vcf.sorted.vcf.gz,59:DCM_365_RGH_Final_last.vcf.sorted.vcf.gz,60:DCM_1476_RGH_Final_last.vcf.sorted.vcf.gz,61:DCM_1745_RGH_Final_last.vcf.sorted.vcf.gz,62:DCM_633_RGH_Final_last.vcf.sorted.vcf.gz,63:DCM_1539_RGH_Final_last.vcf.sorted.vcf.gz,64:DCM_1749_RGH_Final_last.vcf.sorted.vcf.gz,65:DCM_680_RGH_Final_last.vcf.sorted.vcf.gz,66:DCM_1560_RGH_Final_last.vcf.sorted.vcf.gz,67:DCM_1760_RGH_Final_last.vcf.sorted.vcf.gz,68:DCM_682_RGH_Final_last.vcf.sorted.vcf.gz,69:DCM_1584_RGH_Final_last.vcf.sorted.vcf.gz,70:DCM_1767_RGH_Final_last.vcf.sorted.vcf.gz,71:DCM_686_RGH_Final_last.vcf.sorted.vcf.gz,72:DCM_160_RGH_Final_last.vcf.sorted.vcf.gz,73:DCM_1784_RGH_Final_last.vcf.sorted.vcf.gz,74:DCM_714_RGH_Final_last.vcf.sorted.vcf.gz,75:DCM_1667_RGH_Final_last.vcf.sorted.vcf.gz,76:DCM_1796_RGH_Final_last.vcf.sorted.vcf.gz,77:DCM_737_RGH_Final_last.vcf.sorted.vcf.gz,78:DCM_1668_RGH_Final_last.vcf.sorted.vcf.gz,79:DCM_1797_RGH_Final_last.vcf.sorted.vcf.gz,80:DCM_76_RGH_Final_last.vcf.sorted.vcf.gz,81:DCM_1669_RGH_Final_last.vcf.sorted.vcf.gz,82:DCM_1801_RGH_Final_last.vcf.sorted.vcf.gz,83:DCM_968_RGH_Final_last.vcf.sorted.vcf.gz,84:DCM_1672_RGH_Final_last.vcf.sorted.vcf.gz,85:DCM_1809_RGH_Final_last.vcf.sorted.vcf.gz,86:DCM_98_RGH_Final_last.vcf.sorted.vcf.gz,87:DCM_1673_RGH_Final_last.vcf.sorted.vcf.gz,88:DCM_1816_RGH_Final_last.vcf.sorted.vcf.gz,89:DCM_99_RGH_Final_last.vcf.sorted.vcf.gz,90:DCM_1676_RGH_Final_last.vcf.sorted.vcf.gz,91:DCM_1821_RGH_Final_last.vcf.sorted.vcf.gz,92:NA_12878_RGH_Final_last.vcf.sorted.vcf.gz,93:DCM_1677_RGH_Final_last.vcf.sorted.vcf.gz,94:DCM_1838_RGH_Final_last.vcf.sorted.vcf.gz,95:NA12878_RGH_Final_last.vcf.sorted.vcf.gz ##commandline="freebayes -b DCM_1792-51086.sam.sorted.bam.grp.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2029-51129.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2036-51134.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2064-51139.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2072-51145.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2016-51113.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2030-51130.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2043-51125.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2066-51141.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_445-51053.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2025-51115.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2032-51131.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2056-51121.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2067-51142.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_78-51051.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2027-51116.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##commandline="freebayes -b DCM_2034-51133.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##fileDate=20180816 ##commandline="freebayes -b DCM_2062-51137.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##fileDate=20180816 ##commandline="freebayes -b DCM_2070-51143.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##fileDate=20180817 ##source=freeBayes v1.2.0 ##reference=/home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa ##contig=<ID=chr1,length=249250621> ##contig=<ID=chr2,length=243199373> ##contig=<ID=chr3,length=198022430> ##contig=<ID=chr4,length=191154276> ##contig=<ID=chr5,length=180915260> ##contig=<ID=chr6,length=171115067> ##contig=<ID=chr7,length=159138663> ##contig=<ID=chr8,length=146364022> ##contig=<ID=chr9,length=141213431> ##contig=<ID=chr10,length=135534747> ##contig=<ID=chr11,length=135006516> ##contig=<ID=chr12,length=133851895> ##contig=<ID=chr13,length=115169878> ##contig=<ID=chr14,length=107349540> ##contig=<ID=chr15,length=102531392> ##contig=<ID=chr16,length=90354753> ##contig=<ID=chr17,length=81195210> ##contig=<ID=chr18,length=78077248> ##contig=<ID=chr19,length=59128983> ##contig=<ID=chr20,length=63025520> ##contig=<ID=chr21,length=48129895> ##contig=<ID=chr22,length=51304566> ##contig=<ID=chrX,length=155270560> ##contig=<ID=chrY,length=59373566> ##contig=<ID=chrM,length=16571> ##contig=<ID=chr1_gl000191_random,length=106433> ##contig=<ID=chr1_gl000192_random,length=547496> ##contig=<ID=chr4_gl000193_random,length=189789> ##contig=<ID=chr4_gl000194_random,length=191469> ##contig=<ID=chr7_gl000195_random,length=182896> ##contig=<ID=chr8_gl000196_random,length=38914> ##contig=<ID=chr8_gl000197_random,length=37175> ##contig=<ID=chr9_gl000198_random,length=90085> ##contig=<ID=chr9_gl000199_random,length=169874> ##contig=<ID=chr9_gl000200_random,length=187035> ##contig=<ID=chr9_gl000201_random,length=36148> ##contig=<ID=chr11_gl000202_random,length=40103> ##contig=<ID=chr17_gl000203_random,length=37498> ##contig=<ID=chr17_gl000204_random,length=81310> ##contig=<ID=chr17_gl000205_random,length=174588> ##contig=<ID=chr17_gl000206_random,length=41001> ##contig=<ID=chr18_gl000207_random,length=4262> ##contig=<ID=chr19_gl000208_random,length=92689> ##contig=<ID=chr19_gl000209_random,length=159169> ##contig=<ID=chr21_gl000210_random,length=27682> ##contig=<ID=chrUn_gl000211,length=166566> ##contig=<ID=chrUn_gl000212,length=186858> ##contig=<ID=chrUn_gl000213,length=164239> ##contig=<ID=chrUn_gl000214,length=137718> ##contig=<ID=chrUn_gl000215,length=172545> ##contig=<ID=chrUn_gl000216,length=172294> ##contig=<ID=chrUn_gl000217,length=172149> ##contig=<ID=chrUn_gl000218,length=161147> ##contig=<ID=chrUn_gl000219,length=179198> ##contig=<ID=chrUn_gl000220,length=161802> ##contig=<ID=chrUn_gl000221,length=155397> ##contig=<ID=chrUn_gl000222,length=186861> ##contig=<ID=chrUn_gl000223,length=180455> ##contig=<ID=chrUn_gl000224,length=179693> ##contig=<ID=chrUn_gl000225,length=211173> ##contig=<ID=chrUn_gl000226,length=15008> ##contig=<ID=chrUn_gl000227,length=128374> ##contig=<ID=chrUn_gl000228,length=129120> ##contig=<ID=chrUn_gl000229,length=19913> ##contig=<ID=chrUn_gl000230,length=43691> ##contig=<ID=chrUn_gl000231,length=27386> ##contig=<ID=chrUn_gl000232,length=40652> ##contig=<ID=chrUn_gl000233,length=45941> ##contig=<ID=chrUn_gl000234,length=40531> ##contig=<ID=chrUn_gl000235,length=34474> ##contig=<ID=chrUn_gl000236,length=41934> ##contig=<ID=chrUn_gl000237,length=45867> ##contig=<ID=chrUn_gl000238,length=39939> ##contig=<ID=chrUn_gl000239,length=33824> ##contig=<ID=chrUn_gl000240,length=41933> ##contig=<ID=chrUn_gl000241,length=42152> ##contig=<ID=chrUn_gl000242,length=43523> ##contig=<ID=chrUn_gl000243,length=43341> ##contig=<ID=chrUn_gl000244,length=39929> ##contig=<ID=chrUn_gl000245,length=36651> ##contig=<ID=chrUn_gl000246,length=38154> ##contig=<ID=chrUn_gl000247,length=36422> ##contig=<ID=chrUn_gl000248,length=39786> ##contig=<ID=chrUn_gl000249,length=38502> ##phasing=none ##commandline="freebayes -b DCM_88-51052.sam.sorted.bam.grp.bam -f /home/mchiara/hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/genome.fa" ##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data"> ##INFO=<ID=DP,Number=1,Type=Integer,Description="Total read depth at the locus"> ##INFO=<ID=DPB,Number=1,Type=Float,Description="Total read depth per bp at the locus; bases in reads overlapping / bases in haplotype"> ##INFO=<ID=AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1]"> ##INFO=<ID=RO,Number=1,Type=Integer,Description="Count of full observations of the reference haplotype."> ##INFO=<ID=AO,Number=A,Type=Integer,Description="Count of full observations of this alternate haplotype."> ##INFO=<ID=PRO,Number=1,Type=Float,Description="Reference allele observation count, with partial observations recorded fractionally"> ##INFO=<ID=PAO,Number=A,Type=Float,Description="Alternate allele observations, with partial observations recorded fractionally"> ##INFO=<ID=QR,Number=1,Type=Integer,Description="Reference allele quality sum in phred"> ##INFO=<ID=QA,Number=A,Type=Integer,Description="Alternate allele quality sum in phred"> ##INFO=<ID=PQR,Number=1,Type=Float,Description="Reference allele quality sum in phred for partial observations"> ##INFO=<ID=PQA,Number=A,Type=Float,Description="Alternate allele quality sum in phred for partial observations"> ##INFO=<ID=SRF,Number=1,Type=Integer,Description="Number of reference observations on the forward strand"> ##INFO=<ID=SRR,Number=1,Type=Integer,Description="Number of reference observations on the reverse strand"> ##INFO=<ID=SAF,Number=A,Type=Integer,Description="Number of alternate observations on the forward strand"> ##INFO=<ID=SAR,Number=A,Type=Integer,Description="Number of alternate observations on the reverse strand"> ##INFO=<ID=SRP,Number=1,Type=Float,Description="Strand balance probability for the reference allele: Phred-scaled upper-bounds estimate of the probability of observing the deviation between SRF and SRR given E(SRF/SRR) ~ 0.5, derived using Hoeffding's inequality"> ##INFO=<ID=SAP,Number=A,Type=Float,Description="Strand balance probability for the alternate allele: Phred-scaled upper-bounds estimate of the probability of observing the deviation between SAF and SAR given E(SAF/SAR) ~ 0.5, derived using Hoeffding's inequality"> ##INFO=<ID=AB,Number=A,Type=Float,Description="Allele balance at heterozygous sites: a number between 0 and 1 representing the ratio of reads showing the reference allele to all reads, considering only reads from individuals called as heterozygous"> ##INFO=<ID=ABP,Number=A,Type=Float,Description="Allele balance probability at heterozygous sites: Phred-scaled upper-bounds estimate of the probability of observing the deviation between ABR and ABA given E(ABR/ABA) ~ 0.5, derived using Hoeffding's inequality"> ##INFO=<ID=RUN,Number=A,Type=Integer,Description="Run length: the number of consecutive repeats of the alternate allele in the reference genome"> ##INFO=<ID=RPP,Number=A,Type=Float,Description="Read Placement Probability: Phred-scaled upper-bounds estimate of the probability of observing the deviation between RPL and RPR given E(RPL/RPR) ~ 0.5, derived using Hoeffding's inequality"> ##INFO=<ID=RPPR,Number=1,Type=Float,Description="Read Placement Probability for reference observations: Phred-scaled upper-bounds estimate of the probability of observing the deviation between RPL and RPR given E(RPL/RPR) ~ 0.5, derived using Hoeffding's inequality"> ##INFO=<ID=RPL,Number=A,Type=Float,Description="Reads Placed Left: number of reads supporting the alternate balanced to the left (5') of the alternate allele"> ##INFO=<ID=RPR,Number=A,Type=Float,Description="Reads Placed Right: number of reads supporting the alternate balanced to the right (3') of the alternate allele"> ##INFO=<ID=EPP,Number=A,Type=Float,Description="End Placement Probability: Phred-scaled upper-bounds estimate of the probability of observing the deviation between EL and ER given E(EL/ER) ~ 0.5, derived using Hoeffding's inequality"> ##INFO=<ID=EPPR,Number=1,Type=Float,Description="End Placement Probability for reference observations: Phred-scaled upper-bounds estimate of the probability of observing the deviation between EL and ER given E(EL/ER) ~ 0.5, derived using Hoeffding's inequality"> ##INFO=<ID=DPRA,Number=A,Type=Float,Description="Alternate allele depth ratio. Ratio between depth in samples with each called alternate allele and those without."> ##INFO=<ID=ODDS,Number=1,Type=Float,Description="The log odds ratio of the best genotype combination to the second-best."> ##INFO=<ID=GTI,Number=1,Type=Integer,Description="Number of genotyping iterations required to reach convergence or bailout."> ##INFO=<ID=TYPE,Number=A,Type=String,Description="The type of allele, either snp, mnp, ins, del, or complex."> ##INFO=<ID=CIGAR,Number=A,Type=String,Description="The extended CIGAR representation of each alternate allele, with the exception that '=' is replaced by 'M' to ease VCF parsing. Note that INDEL alleles do not have the first matched base (which is provided by default, per the spec) referred to by the CIGAR."> ##INFO=<ID=NUMALT,Number=1,Type=Integer,Description="Number of unique non-reference alleles in called genotypes at this position."> ##INFO=<ID=MEANALT,Number=A,Type=Float,Description="Mean number of unique non-reference allele observations per sample with the corresponding alternate alleles."> ##INFO=<ID=LEN,Number=A,Type=Integer,Description="allele length"> ##INFO=<ID=MQM,Number=A,Type=Float,Description="Mean mapping quality of observed alternate alleles"> ##INFO=<ID=MQMR,Number=1,Type=Float,Description="Mean mapping quality of observed reference alleles"> ##INFO=<ID=PAIRED,Number=A,Type=Float,Description="Proportion of observed alternate alleles which are supported by properly paired read fragments"> ##INFO=<ID=PAIREDR,Number=1,Type=Float,Description="Proportion of observed reference alleles which are supported by properly paired read fragments"> ##INFO=<ID=MIN_DP,Number=1,Type=Integer,Description="Minimum depth in gVCF output block."> ##INFO=<ID=END,Number=1,Type=Integer,Description="Last position (inclusive) in gVCF output record."> ##INFO=<ID=technology.illumina,Number=A,Type=Float,Description="Fraction of observations supporting the alternate observed in reads from illumina"> ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> ##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype Quality, the Phred-scaled marginal (or unconditional) probability of the called genotype"> ##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood, log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"> ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth"> ##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Number of observation for each allele"> ##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count"> ##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of the reference observations"> ##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observation count"> ##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of the alternate observations"> ##FORMAT=<ID=MIN_DP,Number=1,Type=Integer,Description="Minimum depth in gVCF output block."> ##source_20180905.1=vcf-merge(r953) DCM_1792-51086.sorted.vcf.gz DCM_2029-51129.sorted.vcf.gz DCM_2036-51134.sorted.vcf.gz DCM_2064-51139.sorted.vcf.gz DCM_2072-51145.sorted.vcf.gz DCM_2016-51113.sorted.vcf.gz DCM_2030-51130.sorted.vcf.gz DCM_2043-51125.sorted.vcf.gz DCM_2066-51141.sorted.vcf.gz DCM_445-51053.sorted.vcf.gz DCM_2025-51115.sorted.vcf.gz DCM_2032-51131.sorted.vcf.gz DCM_2056-51121.sorted.vcf.gz DCM_2067-51142.sorted.vcf.gz DCM_78-51051.sorted.vcf.gz DCM_2027-51116.sorted.vcf.gz DCM_2034-51133.sorted.vcf.gz DCM_2062-51137.sorted.vcf.gz DCM_2070-51143.sorted.vcf.gz DCM_88-51052.sorted.vcf.gz ##sourceFiles_20180905.1=0:DCM_1792-51086.sorted.vcf.gz,1:DCM_2029-51129.sorted.vcf.gz,2:DCM_2036-51134.sorted.vcf.gz,3:DCM_2064-51139.sorted.vcf.gz,4:DCM_2072-51145.sorted.vcf.gz,5:DCM_2016-51113.sorted.vcf.gz,6:DCM_2030-51130.sorted.vcf.gz,7:DCM_2043-51125.sorted.vcf.gz,8:DCM_2066-51141.sorted.vcf.gz,9:DCM_445-51053.sorted.vcf.gz,10:DCM_2025-51115.sorted.vcf.gz,11:DCM_2032-51131.sorted.vcf.gz,12:DCM_2056-51121.sorted.vcf.gz,13:DCM_2067-51142.sorted.vcf.gz,14:DCM_78-51051.sorted.vcf.gz,15:DCM_2027-51116.sorted.vcf.gz,16:DCM_2034-51133.sorted.vcf.gz,17:DCM_2062-51137.sorted.vcf.gz,18:DCM_2070-51143.sorted.vcf.gz,19:DCM_88-51052.sorted.vcf.gz ##source_20180910.1=vcf-merge(r953) DCM_Final_last_target.sorted.vcf.gz DCM_target.filtered.sorted.header.vcf.gz ##sourceFiles_20180910.1=0:DCM_Final_last_target.sorted.vcf.gz,1:DCM_target.filtered.sorted.header.vcf.gz ##INFO=<ID=SF,Number=.,Type=String,Description="Source File (index to sourceFiles, f when filtered)"> ##INFO=<ID=AC,Number=.,Type=Integer,Description="Allele count in genotypes"> ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> ##INFO=<ID=ANNOVAR_DATE,Number=1,Type=String,Description="Flag the start of ANNOVAR annotation for one alternative allele"> ##INFO=<ID=Func.refGene,Number=.,Type=String,Description="Func.refGene annotation provided by ANNOVAR"> ##INFO=<ID=Gene.refGene,Number=.,Type=String,Description="Gene.refGene annotation provided by ANNOVAR"> ##INFO=<ID=GeneDetail.refGene,Number=.,Type=String,Description="GeneDetail.refGene annotation provided by ANNOVAR"> ##INFO=<ID=ExonicFunc.refGene,Number=.,Type=String,Description="ExonicFunc.refGene annotation provided by ANNOVAR"> ##INFO=<ID=AAChange.refGene,Number=.,Type=String,Description="AAChange.refGene annotation provided by ANNOVAR"> ##INFO=<ID=cytoBand,Number=.,Type=String,Description="cytoBand annotation provided by ANNOVAR"> ##INFO=<ID=genomicSuperDups,Number=.,Type=String,Description="genomicSuperDups annotation provided by ANNOVAR"> ##INFO=<ID=esp6500siv2_all,Number=1,Type=Float,Description="esp6500siv2_all annotation provided by ANNOVAR"> ##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR"> ##INFO=<ID=esp6500siv2_all,Number=1,Type=Float,Description="esp6500siv2_all annotation provided by ANNOVAR"> ##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR"> ##INFO=<ID=1000g2015aug_all,Number=1,Type=Float,Description="1000g2015aug_all annotation provided by ANNOVAR"> ##INFO=<ID=avsnp147,Number=.,Type=String,Description="avsnp147 annotation provided by ANNOVAR"> ##INFO=<ID=Kaviar_AF,Number=.,Type=String,Description="Kaviar_AF annotation provided by ANNOVAR"> ##INFO=<ID=Kaviar_AC,Number=.,Type=String,Description="Kaviar_AC annotation provided by ANNOVAR"> ##INFO=<ID=Kaviar_AN,Number=.,Type=String,Description="Kaviar_AN annotation provided by ANNOVAR"> ##INFO=<ID=ExAC_ALL,Number=.,Type=String,Description="ExAC_ALL annotation provided by ANNOVAR"> ##INFO=<ID=ExAC_AFR,Number=.,Type=String,Description="ExAC_AFR annotation provided by ANNOVAR"> ##INFO=<ID=ExAC_AMR,Number=.,Type=String,Description="ExAC_AMR annotation provided by ANNOVAR"> ##INFO=<ID=ExAC_EAS,Number=.,Type=String,Description="ExAC_EAS annotation provided by ANNOVAR"> ##INFO=<ID=ExAC_FIN,Number=.,Type=String,Description="ExAC_FIN annotation provided by ANNOVAR"> ##INFO=<ID=ExAC_NFE,Number=.,Type=String,Description="ExAC_NFE annotation provided by ANNOVAR"> ##INFO=<ID=ExAC_OTH,Number=.,Type=String,Description="ExAC_OTH annotation provided by ANNOVAR"> ##INFO=<ID=ExAC_SAS,Number=.,Type=String,Description="ExAC_SAS annotation provided by ANNOVAR"> ##INFO=<ID=CLNALLELEID,Number=.,Type=String,Description="CLNALLELEID annotation provided by ANNOVAR"> ##INFO=<ID=CLNDN,Number=.,Type=String,Description="CLNDN annotation provided by ANNOVAR"> ##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="CLNDISDB annotation provided by ANNOVAR"> ##INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="CLNREVSTAT annotation provided by ANNOVAR"> ##INFO=<ID=CLNSIG,Number=.,Type=String,Description="CLNSIG annotation provided by ANNOVAR"> ##INFO=<ID=SIFT_score,Number=.,Type=String,Description="SIFT_score annotation provided by ANNOVAR"> ##INFO=<ID=SIFT_pred,Number=.,Type=String,Description="SIFT_pred annotation provided by ANNOVAR"> ##INFO=<ID=Polyphen2_HDIV_score,Number=.,Type=String,Description="Polyphen2_HDIV_score annotation provided by ANNOVAR"> ##INFO=<ID=Polyphen2_HDIV_pred,Number=.,Type=String,Description="Polyphen2_HDIV_pred annotation provided by ANNOVAR"> ##INFO=<ID=Polyphen2_HVAR_score,Number=.,Type=String,Description="Polyphen2_HVAR_score annotation provided by ANNOVAR"> ##INFO=<ID=Polyphen2_HVAR_pred,Number=.,Type=String,Description="Polyphen2_HVAR_pred annotation provided by ANNOVAR"> ##INFO=<ID=LRT_score,Number=.,Type=String,Description="LRT_score annotation provided by ANNOVAR"> ##INFO=<ID=LRT_pred,Number=.,Type=String,Description="LRT_pred annotation provided by ANNOVAR"> ##INFO=<ID=MutationTaster_score,Number=.,Type=String,Description="MutationTaster_score annotation provided by ANNOVAR"> ##INFO=<ID=MutationTaster_pred,Number=.,Type=String,Description="MutationTaster_pred annotation provided by ANNOVAR"> ##INFO=<ID=MutationAssessor_score,Number=.,Type=String,Description="MutationAssessor_score annotation provided by ANNOVAR"> ##INFO=<ID=MutationAssessor_pred,Number=.,Type=String,Description="MutationAssessor_pred annotation provided by ANNOVAR"> ##INFO=<ID=FATHMM_score,Number=.,Type=String,Description="FATHMM_score annotation provided by ANNOVAR"> ##INFO=<ID=FATHMM_pred,Number=.,Type=String,Description="FATHMM_pred annotation provided by ANNOVAR"> ##INFO=<ID=PROVEAN_score,Number=.,Type=String,Description="PROVEAN_score annotation provided by ANNOVAR"> ##INFO=<ID=PROVEAN_pred,Number=.,Type=String,Description="PROVEAN_pred annotation provided by ANNOVAR"> ##INFO=<ID=VEST3_score,Number=.,Type=String,Description="VEST3_score annotation provided by ANNOVAR"> ##INFO=<ID=CADD_raw,Number=.,Type=String,Description="CADD_raw annotation provided by ANNOVAR"> ##INFO=<ID=CADD_phred,Number=.,Type=String,Description="CADD_phred annotation provided by ANNOVAR"> ##INFO=<ID=DANN_score,Number=.,Type=String,Description="DANN_score annotation provided by ANNOVAR"> ##INFO=<ID=fathmm-MKL_coding_score,Number=.,Type=String,Description="fathmm-MKL_coding_score annotation provided by ANNOVAR"> ##INFO=<ID=fathmm-MKL_coding_pred,Number=.,Type=String,Description="fathmm-MKL_coding_pred annotation provided by ANNOVAR"> ##INFO=<ID=MetaSVM_score,Number=.,Type=String,Description="MetaSVM_score annotation provided by ANNOVAR"> ##INFO=<ID=MetaSVM_pred,Number=.,Type=String,Description="MetaSVM_pred annotation provided by ANNOVAR"> ##INFO=<ID=MetaLR_score,Number=.,Type=String,Description="MetaLR_score annotation provided by ANNOVAR"> ##INFO=<ID=MetaLR_pred,Number=.,Type=String,Description="MetaLR_pred annotation provided by ANNOVAR"> ##INFO=<ID=integrated_fitCons_score,Number=.,Type=String,Description="integrated_fitCons_score annotation provided by ANNOVAR"> ##INFO=<ID=integrated_confidence_value,Number=.,Type=String,Description="integrated_confidence_value annotation provided by ANNOVAR"> ##INFO=<ID=GERP++_RS,Number=.,Type=String,Description="GERP++_RS annotation provided by ANNOVAR"> ##INFO=<ID=phyloP7way_vertebrate,Number=.,Type=String,Description="phyloP7way_vertebrate annotation provided by ANNOVAR"> ##INFO=<ID=phyloP20way_mammalian,Number=.,Type=String,Description="phyloP20way_mammalian annotation provided by ANNOVAR"> ##INFO=<ID=phastCons7way_vertebrate,Number=.,Type=String,Description="phastCons7way_vertebrate annotation provided by ANNOVAR"> ##INFO=<ID=phastCons20way_mammalian,Number=.,Type=String,Description="phastCons20way_mammalian annotation provided by ANNOVAR"> ##INFO=<ID=SiPhy_29way_logOdds,Number=.,Type=String,Description="SiPhy_29way_logOdds annotation provided by ANNOVAR"> ##INFO=<ID=GDI_full_10282015,Number=.,Type=String,Description="GDI_full_10282015 annotation provided by ANNOVAR"> ##INFO=<ID=dpsi_max_tissue,Number=.,Type=String,Description="dpsi_max_tissue annotation provided by ANNOVAR"> ##INFO=<ID=dpsi_zscore,Number=.,Type=String,Description="dpsi_zscore annotation provided by ANNOVAR"> ##INFO=<ID=hgmdCODING,Number=.,Type=String,Description="hgmdCODING annotation provided by ANNOVAR"> ##INFO=<ID=hgmdSPLICE,Number=.,Type=String,Description="hgmdSPLICE annotation provided by ANNOVAR"> ##INFO=<ID=hgmdPROM,Number=.,Type=String,Description="hgmdPROM annotation provided by ANNOVAR"> ##INFO=<ID=hgmdPRO,Number=.,Type=String,Description="hgmdPRO annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_ALL,Number=.,Type=String,Description="gnomAD_exome_ALL annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_AFR,Number=.,Type=String,Description="gnomAD_exome_AFR annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_AMR,Number=.,Type=String,Description="gnomAD_exome_AMR annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_ASJ,Number=.,Type=String,Description="gnomAD_exome_ASJ annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_EAS,Number=.,Type=String,Description="gnomAD_exome_EAS annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_FIN,Number=.,Type=String,Description="gnomAD_exome_FIN annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_NFE,Number=.,Type=String,Description="gnomAD_exome_NFE annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_OTH,Number=.,Type=String,Description="gnomAD_exome_OTH annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_exome_SAS,Number=.,Type=String,Description="gnomAD_exome_SAS annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_genome_ALL,Number=.,Type=String,Description="gnomAD_genome_ALL annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_genome_AFR,Number=.,Type=String,Description="gnomAD_genome_AFR annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_genome_AMR,Number=.,Type=String,Description="gnomAD_genome_AMR annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_genome_ASJ,Number=.,Type=String,Description="gnomAD_genome_ASJ annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_genome_EAS,Number=.,Type=String,Description="gnomAD_genome_EAS annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_genome_FIN,Number=.,Type=String,Description="gnomAD_genome_FIN annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_genome_NFE,Number=.,Type=String,Description="gnomAD_genome_NFE annotation provided by ANNOVAR"> ##INFO=<ID=gnomAD_genome_OTH,Number=.,Type=String,Description="gnomAD_genome_OTH annotation provided by ANNOVAR"> ##INFO=<ID=Whole_Blood,Number=.,Type=String,Description="Whole_Blood annotation provided by ANNOVAR"> ##INFO=<ID=Liver,Number=.,Type=String,Description="Liver annotation provided by ANNOVAR"> ##INFO=<ID=ALLELE_END,Number=0,Type=Flag,Description="Flag the end of ANNOVAR annotation for one alternative allele"> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT DCM_100SM DCM_1678SM DCM_1839SM DCM_1026SM DCM_1679SM DCM_1938SM DCM_1060SM DCM_1680SM DCM_1949SM DCM_1193SM DCM_1682SM DCM_1956SM DCM_1200SM DCM_1683SM DCM_1958SM DCM_1206SM DCM_1688SM DCM_1982SM DCM_1242SM DCM_1689SM DCM_1983SM DCM_1257SM DCM_1690SM DCM_1993SM DCM_1259SM DCM_1691SM DCM_2004SM DCM_1260SM DCM_1692SM DCM_2005SM DCM_1329SM DCM_1695SM DCM_2006SM DCM_1341SM DCM_1711SM DCM_2007SM DCM_1343SM DCM_1713SM DCM_228SM DCM_1345SM DCM_1714SM DCM_278SM DCM_1372SM DCM_1716SM DCM_310SM DCM_1378SM DCM_1717SM DCM_311SM DCM_1397SM DCM_1718SM DCM_331SM DCM_1418SM DCM_1726SM DCM_341SM DCM_1450SM DCM_1728SM DCM_358SM DCM_1456SM DCM_1730SM DCM_365SM DCM_1476SM DCM_1745SM DCM_633SM DCM_1539SM DCM_1749SM DCM_680SM DCM_1560SM DCM_1760SM DCM_682SM DCM_1584SM DCM_1767SM DCM_686SM DCM_160SM DCM_1784SM DCM_714SM DCM_1667SM DCM_1796SM DCM_737SM DCM_1668SM DCM_1797SM DCM_76SM DCM_1669SM DCM_1801SM DCM_968SM DCM_1672SM DCM_1809SM DCM_98SM DCM_1673SM DCM_1816SM DCM_99SM DCM_1676SM DCM_1821SM DCM_12878SM DCM_1677SM DCM_1838SM DCM_RGHSM DCM_1792-51086 DCM_2029-51129 DCM_2036-51134 DCM_2064-51139 DCM_2072-51145 DCM_2016-51113 DCM_2030-51130 DCM_2043-51125 DCM_2066-51141 DCM_445-51053 DCM_2025-51115 DCM_2032-51131 DCM_2056-51121 DCM_2067-51142 DCM_78-51051 DCM_2027-51116 DCM_2034-51133 DCM_2062-51137 DCM_2070-51143 DCM_88-51052 chr1 2985885 . C G 427.40 . AB=0.446809;ABP=4.16534;AC=79;AF=0.5;AN=126;AO=21;CIGAR=1X;DP=3447;DPB=47;DPRA=0;EPP=15.5221;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=30.381;MQMR=22.84;NS=1;NUMALT=1;ODDS=36.8386;PAIRED=0.571429;PAIREDR=0.24;PAO=0;PQA=0;PQR=0;PRO=0;QA=744;QR=728;RO=25;RPL=21;RPP=48.6112;RPPR=57.2971;RPR=0;RUN=1;SAF=5;SAP=15.5221;SAR=16;SF=0,1;SRF=10;SRP=5.18177;SRR=15;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.3045;esp6500siv2_ea=0.3766;esp6500siv2_all=0.3045;esp6500siv2_ea=0.3766;1000g2015aug_all=0.360224;avsnp147=rs7413494;Kaviar_AF=0.340642;Kaviar_AC=52664;Kaviar_AN=154602;ExAC_ALL=0.4600;ExAC_AFR=0.1853;ExAC_AMR=0.6254;ExAC_EAS=0.5985;ExAC_FIN=0.5837;ExAC_NFE=0.4481;ExAC_OTH=0.4798;ExAC_SAS=0.4066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4579;gnomAD_exome_AFR=0.1701;gnomAD_exome_AMR=0.6116;gnomAD_exome_ASJ=0.4349;gnomAD_exome_EAS=0.5834;gnomAD_exome_FIN=0.5390;gnomAD_exome_NFE=0.4203;gnomAD_exome_OTH=0.4147;gnomAD_exome_SAS=0.4049;gnomAD_genome_ALL=0.3476;gnomAD_genome_AFR=0.1581;gnomAD_genome_AMR=0.5594;gnomAD_genome_ASJ=0.4409;gnomAD_genome_EAS=0.5523;gnomAD_genome_FIN=0.5135;gnomAD_genome_NFE=0.4220;gnomAD_genome_OTH=0.4716;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-38.2625,0,-28.5531:47:25:21:744:728 0/1:-27.7295,0,-42.4799:40:23:16:520:730 0/1:-25.7217,0,-15.3326:25:11:14:460:370 0/1:-24.2909,0,-18.3356:34:13:21:696:450 . 0/1:-36.311,0,-21.3942:52:22:28:860:716 . . 0/1:-52.224,0,-53.2349:72:37:34:1124:1182 0/1:-14.6366,0,-38.7323:37:26:11:353:882 0/1:-16.7636,0,-58.1275:54:33:20:646:1069 0/1:-41.8915,0,-18.0154:39:13:26:848:421 . . . . . . 0/1:-23.5962,0,-17.3773:29:14:15:493:440 0/1:-17.5851,0,-39.1791:30:18:12:382:609 1/1:-129.685,-15.9546,0:54:0:53:1759:0 1/1:-66.3572,-9.38069,0:41:2:38:1134:54 1/1:-134.1,-23.1972,0:78:1:77:2452:14 0/1:-29.7911,0,-39.2801:46:26:20:656:836 . . . . 0/1:-12.7666,0,-40.5332:44:30:14:456:918 . . . . 1/1:-122.871,-17.3858,0:64:1:61:1963:14 . . 0/1:-29.3783,0,-26.7471:41:17:23:746:560 . . . . 0/1:-50.1163,0,-27.2735:55:19:36:1187:587 1/1:-65.8262,-8.5385,0:40:1:39:1236:36 0/1:-57.2197,0,-72.4469:92:50:42:1332:1610 0/1:-48.145,0,-39.5892:65:30:34:1132:1021 0/1:-34.5623,0,-36.8877:54:26:27:886:783 . . . . . . 0/1:-37.3137,0,-20.8335:48:19:28:869:595 1/1:-77.6832,-10.8371,0:36:0:36:1258:0 0/1:-8.69197,0,-4.13312:20:8:12:409:258 1/1:-112.024,-13.7317,0:60:2:58:1947:46 0/1:-15.0948,0,-9.11397:21:8:13:399:258 . . 0/1:-14.741,0,-14.6665:28:16:11:344:458 . 1/1:-75.6658,-11.4391,0:39:0:38:1229:0 0/1:-12.9974,0,-6.75236:18:8:10:294:280 0/1:-31.6778,0,-54.4317:65:34:31:1001:1108 . . . 0/1:-18.1547,0,-54.1683:52:34:18:540:1137 0/1:-23.7632,0,-25.9615:33:16:17:579:560 0/1:-11.6177,0,-45.8877:37:27:10:304:856 . 1/1:-146.005,-22.5684,0:78:1:76:2333:14 . . 0/1:-39.8646,0,-20.7041:45:16:29:921:518 . 0/1:-48.8856,0,-58.1487:72:38:33:1019:1284 . . 0/1:-31.5598,0,-24.9037:46:21:25:814:648 1/1:-71.1089,-11.0166,0:40:2:38:1304:41 1/1:-89.1791,-13.8474,0:46:0:46:1425:0 0/1:-25.5146,0,-46.5129:50:26:23:751:873 0/1:-18.7199,0,-18.257:23:12:11:376:388 0/1:-62.3404,0,-32.8339:56:23:33:1098:736 1/1:-70.8364,-10.6908,0:40:1:39:1271:14 . . 1/1:-102.799,-14.5495,0:50:1:48:1605:14 0/1:-35.3284,0,-32.999:57:25:32:973:784 0/1:-26.9602,0,-63.0892:51:33:17:574:1069 . 1/1:-69.2049,-10.235,0:36:0:34:1100:0 0/1:-52.4078,0,-39.5618:63:30:33:1119:945 . 0/1:-42.0703,0,-69.2529:56:32:23:771:1117:32,23 0/1:-92.5,0,-52.8639:72:27:45:1429:871:27,45 0/1:-185.633,0,-92.839:135:49:85:2875:1587:49,85 1/1:-149.757,-17.7608,0:59:0:59:1914:0:0,59 0/1:-45.9551,0,-65.0017:63:34:29:927:1121:34,29 . . . 0/1:-84.0405,0,-110.96:92:52:40:1350:1792:52,40 1/1:-247.539,-27.0927,0:90:0:90:3039:0:0,90 0/1:-78.7982,0,-98.8231:85:47:38:1281:1510:47,38 . 0/1:-75.2581,0,-53.9827:64:27:37:1189:840:27,37 . . 0/1:-90.0277,0,-69.5217:81:34:46:1435:1121:34,46 0/1:-158.741,0,-106.344:134:58:75:2474:1908:58,75 0/1:-70.9355,0,-100.452:89:47:41:1331:1518:47,41 0/1:-77.4768,0,-90.8849:84:42:41:1339:1386:42,41 . chr1 2985923 . C T 20.34 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=3;CIGAR=1X;DP=5;DPB=5;DPRA=0;EPP=9.52472;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=18;MQMR=5.5;NS=1;NUMALT=1;ODDS=4.673;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=55;QR=46;RO=2;RPL=3;RPP=9.52472;RPPR=7.35324;RPR=0;RUN=1;SAF=3;SAP=9.52472;SAR=0;SF=0;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2.93255,-0.539525,0:5:2:3:55:46 . . . . . . . . . . . . . . . . . . . . . chr1 3102751 . G A 7879.78 . AB=0.467009;ABP=14.0426;AC=1;AF=0.5;AN=2;AO=545;CIGAR=1X;DP=1167;DPB=1167;DPRA=0;EPP=15.063;EPPR=6.14273;GTI=0;LEN=1;MEANALT=3;MQM=33.5706;MQMR=31.4854;NS=1;NUMALT=1;ODDS=1814.39;PAIRED=0.851376;PAIREDR=0.790738;PAO=0;PQA=0;PQR=0;PRO=0;QA=15150;QR=17663;RO=583;RPL=398;RPP=254.029;RPPR=81.3211;RPR=147;RUN=1;SAF=299;SAP=14.2023;SAR=246;SF=0;SRF=333;SRP=28.6694;SRR=250;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon2:c.G100A:p.A34T,PRDM16:NM_199454:exon2:c.G100A:p.A34T;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0025;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0025;1000g2015aug_all=0.00119808;avsnp147=rs187194973;Kaviar_AF=0.0020504;Kaviar_AC=317;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0009;ExAC_AMR=8.685e-05;ExAC_EAS=0.0002;ExAC_FIN=0.0033;ExAC_NFE=0.0029;ExAC_OTH=0.0035;ExAC_SAS=0.0010;CLNALLELEID=228413;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.929;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.51;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_pred=N;VEST3_score=0.228;CADD_raw=3.057;CADD_phred=22.4;DANN_score=0.998;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.788;MetaSVM_pred=T;MetaLR_score=0.165;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=5.1;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.460;phastCons20way_mammalian=0.077;SiPhy_29way_logOdds=18.512;GDI_full_10282015=.;dpsi_max_tissue=-0.0291;dpsi_zscore=-0.159;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0035;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-824.626,0,-936.898:1167:583:545:15150:17663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3102762 . G A 5781.55 . AB=0.443841;ABP=33.2536;AC=1;AF=0.5;AN=2;AO=490;CIGAR=1X;DP=1104;DPB=1104;DPRA=0;EPP=3.16984;EPPR=41.6303;GTI=0;LEN=1;MEANALT=3;MQM=29.8857;MQMR=32.3981;NS=1;NUMALT=1;ODDS=1331.25;PAIRED=0.830612;PAIREDR=0.814815;PAO=0;PQA=0;PQR=0;PRO=0;QA=12684;QR=15793;RO=540;RPL=328;RPP=125.127;RPPR=212.051;RPR=162;RUN=1;SAF=258;SAP=6.00605;SAR=232;SF=0;SRF=317;SRP=38.542;SRR=223;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon2:c.G111A:p.E37E,PRDM16:NM_199454:exon2:c.G111A:p.E37E;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs745672280;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.698e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.105e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2049;dpsi_zscore=0.732;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.226e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.716e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-599.362,0,-869.845:1104:540:490:12684:15793 . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3102852 . G A 7272.47 . AB=0.410334;ABP=94.9118;AC=2;AF=0.5;AN=4;AO=540;CIGAR=1X;DP=2839;DPB=1316;DPRA=0;EPP=7.12806;EPPR=8.78735;GTI=0;LEN=1;MEANALT=3;MQM=27.85;MQMR=28.6705;NS=1;NUMALT=1;ODDS=1483.39;PAIRED=0.92963;PAIREDR=0.926619;PAO=0;PQA=0;PQR=0;PRO=0;QA=14370;QR=20599;RO=695;RPL=233;RPP=25.0306;RPPR=19.6603;RPR=307;RUN=1;SAF=255;SAP=6.62942;SAR=285;SF=0,1;SRF=397;SRP=33.6327;SRR=298;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon2:c.G201A:p.P67P,PRDM16:NM_199454:exon2:c.G201A:p.P67P;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0029;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0029;1000g2015aug_all=0.00119808;avsnp147=rs199614349;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0033;ExAC_OTH=0.0035;ExAC_SAS=0.0014;CLNALLELEID=228414;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1088;dpsi_zscore=-0.475;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0201;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0020;gnomAD_exome_OTH=0.0030;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-659.475,0,-1059.94:1316:695:540:14370:20599 . . . . . . . . 0/1:-1137.65,0,-1572.71:1523:798:679:19216:24272:798,679 . . . . . . . . . . . . . . . . . . . chr1 3301721 . C T 9630.47 . AB=0.480691;ABP=6.19689;AC=63;AF=0.5;AN=114;AO=473;CIGAR=1X;DP=65372;DPB=984;DPRA=0;EPP=22.4066;EPPR=11.0239;GTI=0;LEN=1;MEANALT=3;MQM=33.8879;MQMR=34.682;NS=1;NUMALT=1;ODDS=1646.89;PAIRED=0.881607;PAIREDR=0.903766;PAO=0;PQA=0;PQR=0;PRO=0;QA=13586;QR=14280;RO=478;RPL=83;RPP=435.693;RPPR=334.183;RPR=390;RUN=1;SAF=282;SAP=41.0271;SAR=191;SF=0,1;SRF=264;SRP=14.3674;SRR=214;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.2049;esp6500siv2_ea=0.2668;esp6500siv2_all=0.2049;esp6500siv2_ea=0.2668;1000g2015aug_all=0.340455;avsnp147=rs2282198;Kaviar_AF=0.316684;Kaviar_AC=48960;Kaviar_AN=154602;ExAC_ALL=0.3295;ExAC_AFR=0.0802;ExAC_AMR=0.4145;ExAC_EAS=0.5966;ExAC_FIN=0.3095;ExAC_NFE=0.2706;ExAC_OTH=0.3158;ExAC_SAS=0.5226;CLNALLELEID=228417;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0678;dpsi_zscore=-1.510;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3332;gnomAD_exome_AFR=0.0761;gnomAD_exome_AMR=0.4029;gnomAD_exome_ASJ=0.2102;gnomAD_exome_EAS=0.5989;gnomAD_exome_FIN=0.3076;gnomAD_exome_NFE=0.2715;gnomAD_exome_OTH=0.3016;gnomAD_exome_SAS=0.5230;gnomAD_genome_ALL=0.2446;gnomAD_genome_AFR=0.0786;gnomAD_genome_AMR=0.3816;gnomAD_genome_ASJ=0.2649;gnomAD_genome_EAS=0.6075;gnomAD_genome_FIN=0.2991;gnomAD_genome_NFE=0.2782;gnomAD_genome_OTH=0.2982;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-775.054,0,-827.266:984:478:473:13586:14280 . . . 0/1:-829.231,0,-955.765:1101:543:521:14731:16274 0/1:-1117.77,0,-1359.36:1550:778:709:19845:22844 0/1:-679.688,0,-831.306:922:459:433:11932:13947 1/1:-2492.79,-310.664,0:1225:20:1148:32149:605 . . 0/1:-710.838,0,-862.297:967:477:463:12772:14439 . 1/1:-2027.96,-257.855,0:1018:15:945:26152:387 0/1:-506.229,0,-644.124:806:393:367:9944:11567 . 0/1:-1172.48,0,-1427.73:1559:789:728:20529:23546 0/1:-627.741,0,-769.235:889:437:419:11517:13325 . 0/1:-730.222,0,-940.906:997:515:441:12677:15356 . . 0/1:-855.046,0,-1185.39:1279:673:552:15280:20061 . . 0/1:-948.736,0,-1126.27:1235:607:589:16499:18468 . . 0/1:-686.112,0,-975.203:1011:532:437:12542:15929 0/1:-605.576,0,-736.181:912:448:426:11468:13328 . . 0/1:-1021.13,0,-1336.4:1417:745:625:18049:22210 0/1:-895.976,0,-1108.09:1246:622:577:15792:18316 . 0/1:-855.914,0,-1063.36:1165:590:535:14956:17540 0/1:-921.949,0,-989.596:1185:573:571:15779:17015 0/1:-1074.27,0,-1434.48:1590:808:706:19270:23726 1/1:-1976.76,-264.736,0:971:6:916:25313:157 0/1:-869.958,0,-885.063:1165:539:578:15447:15655 . 0/1:-988.251,0,-1150.33:1307:653:608:17208:19530 . . 0/1:-721.139,0,-920.154:976:513:431:12623:15261 0/1:-1132.2,0,-1162.19:1378:660:675:19242:19606 0/1:-842.79,0,-912.998:1099:534:527:14706:15888 0/1:-810.253,0,-1041.35:1147:585:517:14408:17421 1/1:-1414.73,-170.178,0:673:10:639:18029:317 0/1:-613.864,0,-736.865:818:405:380:10478:11998 . . 0/1:-758.667,0,-892.079:1122:561:520:14260:15891 . 0/1:-1105,0,-1258.23:1441:711:672:19010:21142 . . 0/1:-962.637,0,-1171.6:1250:652:560:16305:19231 . . . 0/1:-454.46,0,-508.607:617:298:289:8074:8962 . . . 0/1:-977.665,0,-1263.07:1333:691:597:17128:20651 . . 0/1:-819.561,0,-902.469:1047:503:495:13880:15332 . . 0/1:-852.128,0,-984.037:1133:547:547:15204:16582 0/1:-1027.68,0,-1343.17:1433:735:636:18334:21857 . . 0/1:-683.142,0,-914.82:983:495:438:12024:14778 . 0/1:-790.191,0,-1360.32:1297:717:537:14906:21940 . 0/1:-676.084,0,-694.72:828:392:403:11611:11825 . . 0/1:-1093.96,0,-1083.06:1386:651:667:18954:18825 1/1:-2545.84,-325.876,0:1262:17:1178:32553:484 . 0/1:-690.16,0,-849.482:988:501:439:12489:14534 1/1:-2294.06,-290.464,0:1091:14:1041:29518:333 0/1:-602.917,0,-736.756:823:413:379:10547:12458 0/1:-919.098,0,-1090.99:1215:603:573:15838:17968 . . 0/1:-1188.99,0,-1647.55:1711:894:756:21253:27108 0/1:-764.513,0,-967.388:1087:552:501:13741:16343 . . . . 0/1:-1306.65,0,-1178.65:1273:593:652:19564:18099:593,652 . 0/1:-1244.26,0,-1621.81:1401:757:630:19343:23727:757,630 0/1:-660.486,0,-828.933:752:398:343:10282:12223:398,343 . 0/1:-1248.87,0,-1399.85:1336:677:634:19086:20845:677,634 . 0/1:-1005.5,0,-1457.54:1251:685:537:15929:21429:685,537 . . 0/1:-1138.58,0,-1418.39:1295:679:585:17781:20901:679,585 0/1:-863.289,0,-945.565:922:458:447:13530:14192:458,447 . . . 0/1:-1147.18,0,-1144.99:1179:572:583:17595:17692:572,583 . . . 0/1:-1230.89,0,-1352.44:1324:666:632:18883:20316:666,632 chr1 3313114 . G C 9252.70 . AB=0.4942;ABP=3.38817;AC=1;AF=0.5;AN=2;AO=639;CIGAR=1X;DP=1293;DPB=1293;DPRA=0;EPP=91.096;EPPR=62.2004;GTI=0;LEN=1;MEANALT=3;MQM=33.7621;MQMR=35.8419;NS=1;NUMALT=1;ODDS=2130.51;PAIRED=0.921753;PAIREDR=0.914516;PAO=0;PQA=0;PQR=0;PRO=0;QA=16802;QR=17559;RO=620;RPL=465;RPP=290.776;RPPR=467.061;RPR=174;RUN=1;SAF=296;SAP=10.517;SAR=343;SF=0;SRF=315;SRP=3.36054;SRR=305;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon5:c.G633C:p.K211N,PRDM16:NM_199454:exon5:c.G633C:p.K211N;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.027;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=3.36;FATHMM_pred=T;PROVEAN_score=-2.36;PROVEAN_pred=N;VEST3_score=0.28;CADD_raw=4.714;CADD_phred=24.6;DANN_score=0.998;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.148;MetaSVM_pred=T;MetaLR_score=0.043;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=2.02;phyloP7way_vertebrate=0.034;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=8.123;GDI_full_10282015=.;dpsi_max_tissue=-0.4350;dpsi_zscore=-1.023;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.281e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.44e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-972.937,0,-1044.45:1293:620:639:16802:17559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3319339 . G A 6927.75 . AB=0.464321;ABP=14.3219;AC=14;AF=0.5;AN=28;AO=475;CIGAR=1X;DP=14560;DPB=1023;DPRA=0;EPP=49.6444;EPPR=55.771;GTI=0;LEN=1;MEANALT=3;MQM=33.48;MQMR=33.7149;NS=1;NUMALT=1;ODDS=1520.69;PAIRED=0.901053;PAIREDR=0.903614;PAO=0;PQA=0;PQR=0;PRO=0;QA=12490;QR=14861;RO=498;RPL=145;RPP=159.471;RPPR=167.118;RPR=330;RUN=1;SAF=292;SAP=57.3245;SAR=183;SF=0,1;SRF=310;SRP=67.9103;SRR=188;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0213658;avsnp147=rs192554855;Kaviar_AF=0.0514806;Kaviar_AC=7959;Kaviar_AN=154602;ExAC_ALL=0.0525;ExAC_AFR=0.0114;ExAC_AMR=0.0204;ExAC_EAS=0.0001;ExAC_FIN=0.0911;ExAC_NFE=0.0700;ExAC_OTH=0.0445;ExAC_SAS=0.0410;CLNALLELEID=365019;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0398;dpsi_zscore=-0.217;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0517;gnomAD_exome_AFR=0.0102;gnomAD_exome_AMR=0.0227;gnomAD_exome_ASJ=0.0406;gnomAD_exome_EAS=5.807e-05;gnomAD_exome_FIN=0.0900;gnomAD_exome_NFE=0.0716;gnomAD_exome_OTH=0.0489;gnomAD_exome_SAS=0.0380;gnomAD_genome_ALL=0.0529;gnomAD_genome_AFR=0.0130;gnomAD_genome_AMR=0.0334;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0842;gnomAD_genome_NFE=0.0743;gnomAD_genome_OTH=0.0798;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-694.637,0,-843.273:1023:498:475:12490:14861 0/1:-403.402,0,-512.636:647:311:307:7813:9258 . . . . . . . . . . 0/1:-520.827,0,-771.087:872:459:378:9836:13438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-769.231,0,-1240.09:1383:719:600:15085:21472 . . . 0/1:-614.568,0,-892.924:979:498:433:11330:14854 . . . . . . . . 0/1:-403.949,0,-538.035:704:339:330:8094:10018 . 0/1:-827.681,0,-1046.56:1358:635:627:15580:18734 . . . . . . 0/1:-328.915,0,-534.057:627:323:279:6851:9385 . . . 0/1:-642.564,0,-1055.52:1181:607:517:12743:17972 . 0/1:-709.673,0,-1146.05:1261:657:548:13956:19617 0/1:-405.927,0,-498.993:746:348:349:8657:9909 . . . . . . . . . 0/1:-597.78,0,-918.187:1079:548:488:11938:16271 . . . . . . . 0/1:-650.516,0,-968.451:1140:576:496:12393:16818 . . . . . . . . . . . . . . . . . . 0/1:-1447.52,0,-1586.34:1560:760:773:22427:24051:760,773 . . . . . chr1 3319461 . C T 9834.67 . AB=0.455006;ABP=30.7578;AC=3;AF=0.5;AN=6;AO=718;CIGAR=1X;DP=4696;DPB=1578;DPRA=0;EPP=3.99018;EPPR=4.45159;GTI=0;LEN=1;MEANALT=3;MQM=30.0279;MQMR=31.6161;NS=1;NUMALT=1;ODDS=2049.56;PAIRED=0.821727;PAIREDR=0.80803;PAO=0;PQA=0;PQR=0;PRO=0;QA=19000;QR=23744;RO=797;RPL=383;RPP=9.97837;RPPR=15.9819;RPR=335;RUN=1;SAF=323;SAP=18.6885;SAR=395;SF=0,1;SRF=363;SRP=16.7448;SRR=434;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon6:c.C783T:p.Y261Y,PRDM16:NM_199454:exon6:c.C783T:p.Y261Y;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0084;esp6500siv2_ea=0.0107;esp6500siv2_all=0.0084;esp6500siv2_ea=0.0107;1000g2015aug_all=0.0115815;avsnp147=rs61756439;Kaviar_AF=0.0133375;Kaviar_AC=2062;Kaviar_AN=154602;ExAC_ALL=0.0143;ExAC_AFR=0.0029;ExAC_AMR=0.0659;ExAC_EAS=0.0004;ExAC_FIN=0.0183;ExAC_NFE=0.0100;ExAC_OTH=0.0102;ExAC_SAS=0.0076;CLNALLELEID=228422;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0280;dpsi_zscore=0.185;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0157;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0606;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0149;gnomAD_exome_NFE=0.0098;gnomAD_exome_OTH=0.0141;gnomAD_exome_SAS=0.0081;gnomAD_genome_ALL=0.0098;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0573;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0178;gnomAD_genome_NFE=0.0106;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-901.635,0,-1268.91:1578:797:718:19000:23744 . . . . . . 0/1:-811.548,0,-1056.16:1280:641:584:16069:19357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1678.48,0,-1916.93:1838:943:865:26301:29357:943,865 . . . chr1 3322124 . C T 10802.20 . AB=0.441226;ABP=56.8689;AC=1;AF=0.5;AN=2;AO=792;CIGAR=1X;DP=1795;DPB=1795;DPRA=0;EPP=5.47788;EPPR=11.0261;GTI=0;LEN=1;MEANALT=3;MQM=32.1465;MQMR=33.4549;NS=1;NUMALT=1;ODDS=2487.3;PAIRED=0.847222;PAIREDR=0.855779;PAO=0;PQA=0;PQR=0;PRO=0;QA=21260;QR=29333;RO=943;RPL=394;RPP=3.05417;RPPR=4.94689;RPR=398;RUN=1;SAF=353;SAP=23.2883;SAR=439;SF=0;SRF=451;SRP=6.88119;SRR=492;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon8:c.C1098T:p.H366H,PRDM16:NM_199454:exon8:c.C1098T:p.H366H;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764582197;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.592e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0708;dpsi_zscore=0.384;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.912e-05;gnomAD_exome_AFR=6.733e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.926e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.853e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.578e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1093.72,0,-1687.43:1795:943:792:21260:29333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3328355 . ACAT ACAC,CCAT 4437.13 . AB=0;ABP=0;AC=12,0;AF=1;AN=40;AO=359;CIGAR=3M1X;DP=9925;DPB=498.5;DPRA=0;EPP=192.509;EPPR=7.35324;GTI=0;LEN=1;MEANALT=21;MQM=36.0418;MQMR=16;NS=1;NUMALT=1;ODDS=264.699;PAIRED=0.832869;PAIREDR=1;PAO=1.33333;PQA=43.3333;PQR=22;PRO=0.666667;QA=11188;QR=45;RO=2;RPL=170;RPP=5.19387;RPPR=7.35324;RPR=189;RUN=1;SAF=200;SAP=13.1781;SAR=159;SF=1;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=PRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs\x3bPRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs\x3bPRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.A1594C:p.T532P,PRDM16:NM_199454:exon9:c.A1594C:p.T532P;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.773;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=U;MutationTaster_score=0.623;MutationTaster_pred=N;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=3.5;FATHMM_pred=T;PROVEAN_score=-1.52;PROVEAN_pred=N;VEST3_score=0.439;CADD_raw=1.557;CADD_phred=13.62;DANN_score=0.992;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.086;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.33;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.176;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.965;SiPhy_29way_logOdds=10.561;GDI_full_10282015=.;dpsi_max_tissue=-0.0154;dpsi_zscore=-0.074;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-903.295,-109.691,0,.,.,.:497:2:359,.:11188,.:45:2,359 0/0:.,.,.,.,.,-831.222:492:428:.,56:.,1212:12028:428,56 0/0:.,.,.,.,.,-927.216:535:472:.,48:.,1053:12920:472,48 1/1:-588.029,-68.9359,0,.,.,.:319:0:229,.:7350,.:0:0,229 0/0:.,.,.,.,.,-845.014:468:413:.,46:.,1017:11486:413,46 0/0:.,.,.,.,.,-1010.77:571:510:.,49:.,1048:13763:510,49 0/0:.,.,.,.,.,-879.391:527:456:.,59:.,1151:12329:456,59 1/1:-1025.95,-129.307,0,.,.,.:524:1:414,.:13117,.:25:1,414 0/0:.,.,.,.,.,-845.274:479:421:.,51:.,1078:11748:421,51 0/0:.,.,.,.,.,-1025.94:592:507:.,64:.,1238:14074:507,64 1/1:-1060.25,-142.016,0,.,.,.:570:1:424,.:13530,.:35:1,424 0/0:.,.,.,.,.,-667.211:388:343:.,38:.,887:9300:343,38 0/0:.,.,.,.,.,-691.02:406:359:.,41:.,906:9861:359,41 0/0:.,.,.,.,.,-862.196:510:440:.,58:.,1183:12303:440,58 0/0:.,.,.,.,.,-923.955:519:460:.,49:.,1047:12793:460,49 0/0:.,.,.,.,.,-858.423:498:434:.,49:.,1081:12035:434,49 1/1:-1090.69,-140.21,0,.,.,.:587:1:445,.:14174,.:35:1,445 0/0:.,.,.,.,.,-832.693:467:407:.,46:.,994:11423:407,46 1/1:-803.02,-100.544,0,.,.,.:435:0:320,.:10061,.:0:0,320 0/0:.,.,.,.,.,-886.723:541:461:.,66:.,1464:12867:461,66 chr1 3328356 . CAT CAC 9652.48 . AB=0;ABP=0;AC=16;AF=1;AN=16;AO=407;CIGAR=2M1X;DP=3904;DPB=494.333;DPRA=0;EPP=181.685;EPPR=5.18177;GTI=0;LEN=1;MEANALT=13;MQM=34.3907;MQMR=32;NS=1;NUMALT=1;ODDS=373.131;PAIRED=0.810811;PAIREDR=0.75;PAO=1.33333;PQA=42.6667;PQR=42.6667;PRO=1.33333;QA=12663;QR=105;RO=4;RPL=262;RPP=76.0454;RPPR=11.6962;RPR=145;RUN=1;SAF=199;SAP=3.44246;SAR=208;SF=1;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=PRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs\x3bPRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs\x3bPRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-987.136,-119.078,0:489:4:407:12663:105:4,407 . . 1/1:-954.535,-124.024,0:465:0:387:11989:0:0,387 1/1:-1162.67,-148.107,0:565:0:469:14862:0:0,469 . . . . . 1/1:-801.62,-98.8573,0:384:2:329:10231:49:2,329 . . 1/1:-1028.74,-125.02,0:508:7:424:13248:229:7,424 1/1:-994.355,-122.074,0:497:1:409:12665:36:1,409 . 1/1:-973.467,-118.305,0:465:0:387:12092:0:0,387 . 1/1:-1018.72,-137.787,0:531:3:424:13087:68:3,424 chr1 3328357 . AT AC,CT 4654.93 . AB=0;ABP=0;AC=4,0;AF=1;AN=12;AO=460;CIGAR=1M1X;DP=3021;DPB=532;DPRA=0;EPP=162.831;EPPR=0;GTI=0;LEN=1;MEANALT=8;MQM=34.1217;MQMR=0;NS=1;NUMALT=1;ODDS=378.042;PAIRED=0.826087;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=14070;QR=0;RO=0;RPL=277;RPP=44.7215;RPPR=0;RPR=183;RUN=1;SAF=235;SAP=3.48236;SAR=225;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=PRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs\x3bPRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs\x3bPRDM16:NM_022114:exon9:c.1597delT:p.S533fs,PRDM16:NM_199454:exon9:c.1597delT:p.S533fs;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.A1596C:p.T532T,PRDM16:NM_199454:exon9:c.A1596C:p.T532T;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0677;dpsi_zscore=-0.339;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1098.6,-138.474,0,.,.,.:532:0:460,.:14070,.:0:0,460 . . . 0/0:.,.,.,.,.,-874.309:522:446:.,69:.,1371:12463:446,69 . 0/0:.,.,.,.,.,-854.079:474:421:.,45:.,937:11764:421,45 0/0:.,.,.,.,.,-1021.73:590:510:.,67:.,1356:14379:510,67 . . 1/1:-817.362,-94.5684,0,.,.,.:402:3:334,.:10636,.:86:3,334 0/0:.,.,.,.,.,-879.615:501:445:.,41:.,806:11964:445,41 . . . . . . chr1 3328358 . T C 5827.63 . AB=0;ABP=0;AC=168;AF=1;AN=194;AO=344;CIGAR=1X;DP=44558;DPB=351;DPRA=0;EPP=93.9091;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=23.3692;MQMR=16;NS=1;NUMALT=1;ODDS=469.99;PAIRED=0.831395;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9758;QR=35;RO=2;RPL=194;RPP=15.2311;RPPR=3.0103;RPR=150;RUN=1;SAF=202;SAP=25.735;SAR=142;SF=0,1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.8777;esp6500siv2_ea=0.8356;esp6500siv2_all=0.8777;esp6500siv2_ea=0.8356;1000g2015aug_all=0.945088;avsnp147=rs870124;Kaviar_AF=0.871858;Kaviar_AC=134791;Kaviar_AN=154602;ExAC_ALL=0.8897;ExAC_AFR=0.9721;ExAC_AMR=0.9243;ExAC_EAS=0.9998;ExAC_FIN=0.9099;ExAC_NFE=0.8404;ExAC_OTH=0.8873;ExAC_SAS=0.9508;CLNALLELEID=228438;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.656;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.909;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=3.42;FATHMM_pred=T;PROVEAN_score=1.41;PROVEAN_pred=N;VEST3_score=0.028;CADD_raw=-0.543;CADD_phred=0.172;DANN_score=0.663;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.955;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.33;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.058;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=0.826;SiPhy_29way_logOdds=14.274;GDI_full_10282015=.;dpsi_max_tissue=-0.0813;dpsi_zscore=-0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8901;gnomAD_exome_AFR=0.9726;gnomAD_exome_AMR=0.9239;gnomAD_exome_ASJ=0.8534;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=0.9133;gnomAD_exome_NFE=0.8350;gnomAD_exome_OTH=0.8740;gnomAD_exome_SAS=0.9500;gnomAD_genome_ALL=0.9008;gnomAD_genome_AFR=0.9696;gnomAD_genome_AMR=0.9332;gnomAD_genome_ASJ=0.86;gnomAD_genome_EAS=0.9994;gnomAD_genome_FIN=0.9196;gnomAD_genome_NFE=0.8459;gnomAD_genome_OTH=0.8794;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-590.109,-102.228,0:351:2:344:9758:35 1/1:-903.406,-160.111,0:547:2:538:15144:28 1/1:-743.579,-139.142,0:483:3:471:13421:71 1/1:-512.447,-85.4865,0:292:2:285:8032:50 0/1:-225.404,0,-223.056:438:196:220:6311:5576 1/1:-1004.35,-173.955,0:591:1:579:16699:14 1/1:-607.452,-106.565,0:358:0:354:9980:0 1/1:-829.399,-140.894,0:501:4:486:14004:121 0/1:-299.212,0,-219.127:463:190:250:7219:5526 1/1:-660.394,-119.476,0:414:3:404:11349:64 1/1:-635.199,-109.908,0:389:7:375:10878:116 0/1:-239.765,0,-204.465:413:184:208:5865:5234 1/1:-646.875,-115.174,0:390:1:384:10934:32 0/1:-155.765,0,-187.025:354:154:174:4867:4686 1/1:-631.734,-110.884,0:379:2:368:10598:28 1/1:-1034.42,-184.682,0:635:2:618:17717:35 1/1:-452.512,-82.8357,0:283:1:275:7787:14 1/1:-1832.41,-311.88,0:1072:4:1045:30131:81 1/1:-764.066,-135.939,0:478:3:464:13083:64 1/1:-440.644,-82.9814,0:291:2:284:8160:46 0/1:-127.904,0,-212.31:312:167:129:3710:4974 1/1:-760.395,-124.807,0:444:4:431:12431:69 0/1:-126.586,0,-159.501:284:150:119:3377:4282 0/1:-367.643,0,-352.661:628:294:297:8547:8206 1/1:-998.114,-173.37,0:592:1:579:16533:14 1/1:-397.665,-77.3354,0:267:3:261:7387:49 0/1:-249.508,0,-324.939:531:279:225:6380:7651 1/1:-671.107,-111.856,0:393:4:385:10961:82 . 1/1:-756.438,-129.89,0:445:2:434:12499:41 1/1:-631.59,-110.364,0:376:1:368:10516:32 1/1:-884.605,-152.02,0:517:0:505:14463:0 1/1:-813.378,-140.882,0:480:0:468:13279:0 1/1:-915.622,-166.169,0:564:0:552:15567:0 1/1:-904.68,-154.989,0:524:1:516:14792:14 1/1:-847.443,-148.959,0:520:2:510:14443:68 1/1:-1120.24,-202.411,0:695:3:686:18942:64 1/1:-755.466,-126.628,0:440:2:430:12396:50 1/1:-652.605,-119.36,0:409:1:402:11325:27 1/1:-684.814,-121.616,0:413:0:404:11693:0 0/1:-289.649,0,-340.523:569:280:253:7424:7940 1/1:-787.136,-137.636,0:468:3:458:13325:42 0/1:-313.017,0,-280.702:516:224:267:7655:6700 1/1:-791.118,-141.837,0:481:1:471:13411:14 1/1:-803.032,-139.201,0:480:1:472:13590:36 1/1:-837.998,-146.951,0:510:1:494:13775:36 . 0/1:-150.706,0,-180.067:312:152:144:4076:4272 1/1:-653.046,-104.457,0:357:0:347:10265:0 1/1:-873.003,-151.065,0:518:2:506:14702:28 0/1:-342.804,0,-354.083:595:278:275:7889:8026 0/1:-190.958,0,-146.225:356:157:178:4931:4504 0/1:-378.306,0,-292.72:587:250:300:8618:7273 0/1:-346.386,0,-323.765:587:276:286:8355:7762 1/1:-469.566,-84.8905,0:286:0:282:8175:0 1/1:-664.575,-109.506,0:376:2:368:10625:28 1/1:-884.685,-156.074,0:532:2:521:14710:50 1/1:-279.667,-56.9627,0:193:1:189:5361:14 1/1:-525.42,-91.7736,0:314:1:306:9096:14 0/1:-361.12,0,-260.783:577:247:296:8740:6818 1/1:-358.617,-65.4818,0:233:1:227:6569:36 1/1:-971.807,-164.686,0:567:2:559:16517:68 1/1:-794.957,-131.958,0:464:4:454:13145:74 0/1:-133.497,0,-149.08:279:127:131:3794:3821 1/1:-932.541,-164.348,0:561:1:549:15645:14 1/1:-933.563,-149.311,0:508:0:496:14591:0 0/1:-100.744,0,-88.8746:192:92:90:2642:2732 1/1:-801.319,-135.725,0:468:1:457:12830:36 1/1:-782.668,-142.086,0:479:0:472:13019:0 1/1:-765.693,-129.872,0:466:4:456:13121:140 1/1:-785.009,-137.853,0:468:1:461:13352:14 0/1:-341.406,0,-339.293:611:293:287:8019:8002 1/1:-861.893,-158.851,0:541:2:533:15055:41 1/1:-341.938,-64.0782,0:218:1:214:6108:14 1/1:-639.95,-106.087,0:375:3:366:10424:64 1/1:-959.526,-172.725,0:589:2:578:16475:28 1/1:-950.002,-159.652,0:549:3:533:15336:99 1/1:-881.197,-156.279,0:534:1:525:14845:36 0/1:-219.705,0,-157.437:331:137:171:4965:4176 1/1:-467.371,-72.5029,0:293:7:280:7923:178 1/1:-797.642,-139.109,0:478:2:465:13345:28 1/1:-969.586,-162.08,0:574:4:558:16056:100 0/1:-286.107,0,-286.112:585:278:277:7900:7621 1/1:-674.883,-115.757,0:400:1:393:11649:32 0/1:-259.088,0,-224.817:448:192:238:6783:5458 1/1:-781.139,-137.934,0:502:4:485:13814:118 1/1:-564.509,-96.9305,0:335:3:326:9321:42 1/1:-819.762,-137.199,0:496:4:484:13567:126 1/1:-443.538,-76.7378,0:262:1:258:7424:14 1/1:-626.043,-113.187,0:380:0:376:10773:0 1/1:-977.274,-167.242,0:608:6:584:16597:207 1/1:-883.811,-152.54,0:524:4:511:14681:91 1/1:-941.286,-167.975,0:567:0:558:15613:0 1/1:-818.963,-141.18,0:493:3:479:13660:64 1/1:-822.41,-146.224,0:509:4:496:14053:96 . . . . . . . 0/1:-447.106,0,-403.355:530:241:267:7630:7127:241,267 . 0/1:-381.873,0,-436.18:477:242:221:6629:7340:242,221 0/1:-504.328,0,-464.769:591:276:283:8540:8207:276,283 . . . 0/1:-390.619,0,-412.442:503:247:231:6848:7345:247,231 . . . . . . chr1 3328659 . C T 5616.01 . AB=0.412756;ABP=57.9504;AC=56;AF=0.5;AN=94;AO=343;CIGAR=1X;DP=35053;DPB=831;DPRA=0;EPP=31.4294;EPPR=34.8902;GTI=0;LEN=1;MEANALT=3;MQM=27.8863;MQMR=26.9585;NS=1;NUMALT=1;ODDS=811.111;PAIRED=0.877551;PAIREDR=0.868996;PAO=0;PQA=0;PQR=0;PRO=0;QA=9007;QR=13971;RO=458;RPL=104;RPP=118.39;RPPR=88.1434;RPR=239;RUN=1;SAF=201;SAP=25.0479;SAR=142;SF=0,1;SRF=262;SRP=23.663;SRR=196;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C1898T:p.P633L,PRDM16:NM_199454:exon9:c.C1898T:p.P633L;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1516;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1516;1000g2015aug_all=0.10603;avsnp147=rs2493292;Kaviar_AF=0.126176;Kaviar_AC=19507;Kaviar_AN=154602;ExAC_ALL=0.1310;ExAC_AFR=0.1698;ExAC_AMR=0.0737;ExAC_EAS=0.0108;ExAC_FIN=0.0971;ExAC_NFE=0.1636;ExAC_OTH=0.1594;ExAC_SAS=0.0839;CLNALLELEID=228440;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.321;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.075;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.097;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=3.424;CADD_phred=23.0;DANN_score=0.997;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.906;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.18;phyloP7way_vertebrate=-0.029;phyloP20way_mammalian=0.028;phastCons7way_vertebrate=0.912;phastCons20way_mammalian=0.009;SiPhy_29way_logOdds=14.960;GDI_full_10282015=.;dpsi_max_tissue=0.0354;dpsi_zscore=0.227;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1231;gnomAD_exome_AFR=0.1639;gnomAD_exome_AMR=0.0803;gnomAD_exome_ASJ=0.2228;gnomAD_exome_EAS=0.0107;gnomAD_exome_FIN=0.0990;gnomAD_exome_NFE=0.1563;gnomAD_exome_OTH=0.1523;gnomAD_exome_SAS=0.0762;gnomAD_genome_ALL=0.1349;gnomAD_genome_AFR=0.1632;gnomAD_genome_AMR=0.1026;gnomAD_genome_ASJ=0.1833;gnomAD_genome_EAS=0.0130;gnomAD_genome_FIN=0.1024;gnomAD_genome_NFE=0.1406;gnomAD_genome_OTH=0.1283;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-380.382,0,-672.057:831:458:343:9007:13971 . 0/1:-237.021,0,-313.512:435:210:203:5347:6614 . 0/1:-434.28,0,-690.5:886:471:378:9961:14336 1/1:-979.386,-152.052,0:617:12:570:15220:312 . . 0/1:-392.124,0,-618.366:783:419:340:8904:12984 . 0/1:-444.05,0,-494.444:762:344:385:9978:10920 . 0/1:-285.569,0,-286.824:474:210:243:6299:6464 0/1:-297.232,0,-442.677:598:312:255:6772:9535 . . 0/1:-686.87,0,-1089.77:1429:752:616:16694:22929 . 1/1:-829.817,-128.437,0:492:8:449:12157:134 0/1:-291.456,0,-420.905:526:273:229:6403:8643 . 0/1:-192.164,0,-354.131:422:233:168:4414:7154 . . 0/1:-239.726,0,-374.095:511:265:229:5996:8104 0/1:-403.834,0,-685.396:833:454:347:9339:14198 . . . 0/1:-293.479,0,-502.516:611:331:263:7245:10242 . . . . . 0/1:-474.671,0,-780.704:975:522:413:11301:16177 . . 1/1:-899.6,-142.631,0:549:12:494:13073:219 . . 0/1:-485.327,0,-670.024:821:412:375:10235:13028 0/1:-411.782,0,-572.087:778:389:356:9280:11790 0/1:-502.147,0,-658.448:874:432:403:11085:13365 0/1:-397.522,0,-512.81:710:342:329:8945:10440 . . . 0/1:-378.699,0,-612.236:780:417:330:8927:13004 . . . . . . 0/1:-440.289,0,-635.47:845:439:374:10177:13709 0/1:-182.84,0,-233.12:371:189:168:4516:5771 . . . 0/1:-489.549,0,-630.281:866:439:398:10818:13582 . 0/1:-231.439,0,-335.532:473:244:208:5337:7553 . . . 0/1:-362.517,0,-582.256:739:376:330:8814:11538 . 0/1:-376.357,0,-518.222:759:378:347:8865:11473 . . . 0/1:-213.684,0,-244.124:388:194:182:4937:5684 . 0/1:-457.936,0,-604.213:899:443:409:10586:13372 . . . 1/1:-662.031,-99.7919,0:423:11:374:10102:290 1/1:-1276.41,-187.046,0:783:16:707:19087:409 . . . . . . . . 0/1:-341.689,0,-435.477:650:314:299:7738:9832 . . 0/1:-478.617,0,-622.032:833:412:381:10263:12802 1/1:-1141.02,-135.432,0:760:40:666:17857:1154 . . 0/1:-856.362,0,-878.136:885:421:446:13255:13551:421,446 1/1:-2052.38,-227.567,0:869:13:830:24795:372:13,830 . . 0/1:-714.218,0,-849.526:800:408:381:11482:13022:408,381 0/1:-839.275,0,-1072.14:983:510:451:13390:16424:510,451 . . 0/1:-788.234,0,-895.127:863:433:412:12394:13823:433,412 . 0/1:-896.965,0,-967.968:971:474:480:14159:15111:474,480 . . 0/1:-713.971,0,-871.614:821:411:387:11308:13203:411,387 0/1:-896.604,0,-914.563:943:457:464:13845:14469:457,464 . 1/1:-2082.7,-223.144,0:921:20:878:25884:585:20,878 1/1:-1836.35,-199.378,0:795:12:759:22202:397:12,759 0/1:-763.132,0,-799.579:801:392:392:11953:12408:392,392 0/1:-828.13,0,-964.629:915:459:448:13270:14619:459,448 chr1 3328948 . C G 3946.65 . AB=0.464325;ABP=13.0811;AC=1;AF=0.5;AN=2;AO=423;CIGAR=1X;DP=911;DPB=911;DPRA=0;EPP=64.0015;EPPR=4.97543;GTI=0;LEN=1;MEANALT=3;MQM=25.2009;MQMR=26.5136;NS=1;NUMALT=1;ODDS=908.75;PAIRED=0.92435;PAIREDR=0.88009;PAO=0;PQA=0;PQR=0;PRO=0;QA=9994;QR=12324;RO=442;RPL=234;RPP=13.4056;RPPR=19.5371;RPR=189;RUN=1;SAF=161;SAP=55.3772;SAR=262;SF=0;SRF=137;SRP=141.67;SRR=305;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C2187G:p.F729L,PRDM16:NM_199454:exon9:c.C2187G:p.F729L;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=0.000199681;avsnp147=rs200109766;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=448154;CLNDN=Left_ventricular_noncompaction_8;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.054;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.014;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.98;MutationAssessor_pred=M;FATHMM_score=3.07;FATHMM_pred=T;PROVEAN_score=-1.87;PROVEAN_pred=N;VEST3_score=0.118;CADD_raw=1.423;CADD_phred=12.91;DANN_score=0.984;fathmm-MKL_coding_score=0.801;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.082;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=1.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.019;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=6.814;GDI_full_10282015=.;dpsi_max_tissue=0.3132;dpsi_zscore=0.910;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-415.024,0,-550.599:911:442:423:9994:12324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3329216 . G A 1037.86 . AB=0.417671;ABP=17.6699;AC=1;AF=0.5;AN=2;AO=104;CIGAR=1X;DP=249;DPB=249;DPRA=0;EPP=3.09382;EPPR=3.64073;GTI=0;LEN=1;MEANALT=2;MQM=26.2885;MQMR=28.7419;NS=1;NUMALT=1;ODDS=238.976;PAIRED=0.903846;PAIREDR=0.903226;PAO=0;PQA=0;PQR=0;PRO=0;QA=2790;QR=3825;RO=124;RPL=45;RPP=7.10269;RPPR=5.53201;RPR=59;RUN=1;SAF=40;SAP=15.0369;SAR=64;SF=0;SRF=65;SRP=3.64073;SRR=59;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2455A:p.G819R,PRDM16:NM_199454:exon9:c.G2455A:p.G819R;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs755243204;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.521;SIFT_pred=T;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.41;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=3.5;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_pred=N;VEST3_score=0.241;CADD_raw=-0.077;CADD_phred=1.906;DANN_score=0.943;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.991;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-2.99;phyloP7way_vertebrate=-0.436;phyloP20way_mammalian=0.132;phastCons7way_vertebrate=0.350;phastCons20way_mammalian=0.396;SiPhy_29way_logOdds=5.075;GDI_full_10282015=.;dpsi_max_tissue=-0.1644;dpsi_zscore=-0.613;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.624e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.771e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-112.383,0,-193.536:249:124:104:2790:3825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3329263 . C T 2236.00 . AB=0.416838;ABP=32.265;AC=1;AF=0.5;AN=2;AO=203;CIGAR=1X;DP=487;DPB=487;DPRA=0;EPP=26.6398;EPPR=3.33876;GTI=0;LEN=1;MEANALT=3;MQM=29.2167;MQMR=31.2227;NS=1;NUMALT=1;ODDS=514.857;PAIRED=0.881773;PAIREDR=0.907563;PAO=0;PQA=0;PQR=0;PRO=0;QA=5151;QR=7336;RO=238;RPL=79;RPP=24.6715;RPPR=33.7029;RPR=124;RUN=1;SAF=104;SAP=3.27772;SAR=99;SF=0;SRF=110;SRP=5.96642;SRR=128;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C2502T:p.G834G,PRDM16:NM_199454:exon9:c.C2502T:p.G834G;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0392;esp6500siv2_ea=0.0155;esp6500siv2_all=0.0392;esp6500siv2_ea=0.0155;1000g2015aug_all=0.0537141;avsnp147=rs115226069;Kaviar_AF=0.0165716;Kaviar_AC=2562;Kaviar_AN=154602;ExAC_ALL=0.0841;ExAC_AFR=0.2182;ExAC_AMR=0.0246;ExAC_EAS=0.0038;ExAC_FIN=0.0364;ExAC_NFE=0.0461;ExAC_OTH=0.0862;ExAC_SAS=0.1141;CLNALLELEID=228449;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3172;dpsi_zscore=-0.878;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0271;gnomAD_exome_AFR=0.1116;gnomAD_exome_AMR=0.0089;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0.0130;gnomAD_exome_FIN=0.0152;gnomAD_exome_NFE=0.0196;gnomAD_exome_OTH=0.0157;gnomAD_exome_SAS=0.0568;gnomAD_genome_ALL=0.0424;gnomAD_genome_AFR=0.1025;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0148;gnomAD_genome_FIN=0.0155;gnomAD_genome_NFE=0.0207;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-235.952,0,-403.674:487:238:203:5151:7336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3329269 . C T 2062.28 . AB=0.452381;ABP=9.62812;AC=2;AF=0.5;AN=4;AO=152;CIGAR=1X;DP=792;DPB=336;DPRA=0;EPP=11.239;EPPR=3.8577;GTI=0;LEN=1;MEANALT=3;MQM=28.5066;MQMR=31.2439;NS=1;NUMALT=1;ODDS=402.842;PAIRED=0.914474;PAIREDR=0.920732;PAO=0;PQA=0;PQR=0;PRO=0;QA=4036;QR=5177;RO=164;RPL=68;RPP=6.66752;RPPR=14.9269;RPR=84;RUN=1;SAF=76;SAP=3.0103;SAR=76;SF=0;SRF=81;SRP=3.06326;SRR=83;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C2508T:p.G836G,PRDM16:NM_199454:exon9:c.C2508T:p.G836G;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs374271999;Kaviar_AF=0.0003493;Kaviar_AC=54;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0034;ExAC_OTH=0;ExAC_SAS=0.0025;CLNALLELEID=442829;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0890;dpsi_zscore=-0.415;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-183.153,0,-273.771:336:164:152:4036:5177 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-247.339,0,-321.722:456:222:210:5565:6676 . . . . . . . . . . . . . . . . . . . . . . chr1 3329384 . C T 5001.80 . AB=0.463649;ABP=11.3775;AC=55;AF=0.5;AN=94;AO=338;CIGAR=1X;DP=31075;DPB=729;DPRA=0;EPP=6.7108;EPPR=3.03403;GTI=0;LEN=1;MEANALT=3;MQM=29.9941;MQMR=30.8552;NS=1;NUMALT=1;ODDS=944.276;PAIRED=0.789941;PAIREDR=0.800546;PAO=0;PQA=0;PQR=0;PRO=0;QA=8621;QR=11206;RO=366;RPL=235;RPP=114.95;RPPR=32.0819;RPR=103;RUN=1;SAF=158;SAP=6.11975;SAR=180;SF=0,1;SRF=164;SRP=11.5775;SRR=202;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.1383;esp6500siv2_ea=0.1344;esp6500siv2_all=0.1383;esp6500siv2_ea=0.1344;1000g2015aug_all=0.107029;avsnp147=rs2493291;Kaviar_AF=0.0647469;Kaviar_AC=10010;Kaviar_AN=154602;ExAC_ALL=0.2155;ExAC_AFR=0.2521;ExAC_AMR=0.1463;ExAC_EAS=0.0245;ExAC_FIN=0.2381;ExAC_NFE=0.2361;ExAC_OTH=0.3077;ExAC_SAS=0.1181;CLNALLELEID=365234;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0877;dpsi_zscore=0.445;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1129;gnomAD_exome_AFR=0.1652;gnomAD_exome_AMR=0.0980;gnomAD_exome_ASJ=0.2175;gnomAD_exome_EAS=0.0103;gnomAD_exome_FIN=0.1001;gnomAD_exome_NFE=0.1476;gnomAD_exome_OTH=0.1440;gnomAD_exome_SAS=0.0714;gnomAD_genome_ALL=0.1344;gnomAD_genome_AFR=0.1645;gnomAD_genome_AMR=0.0993;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.0129;gnomAD_genome_FIN=0.1022;gnomAD_genome_NFE=0.1392;gnomAD_genome_OTH=0.1235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-430.087,0,-584.171:729:366:338:8621:11206 . 0/1:-215.453,0,-210.76:349:155:178:4536:4754 . 0/1:-513.014,0,-606.593:852:406:395:10246:12331 1/1:-840.615,-123.36,0:546:18:484:12454:486 . . 0/1:-334.602,0,-551.897:684:356:289:7192:11005 . 0/1:-329.675,0,-428.167:541:262:257:6588:7991 . 0/1:-273.408,0,-366.59:475:237:212:5446:7184 0/1:-285.194,0,-281.098:447:211:215:5419:6427 . . 0/1:-846.749,0,-1100.68:1427:701:668:17176:21477 . 1/1:-820.7,-138.755,0:512:3:465:11941:60 0/1:-212.894,0,-320.555:393:197:179:4477:6033 . 0/1:-181.216,0,-196.949:328:148:160:4173:4347 . . 0/1:-310.096,0,-332.184:497:213:255:6391:6281 0/1:-380.047,0,-475.41:625:306:291:7456:9316 . . . 0/1:-344.994,0,-311.539:504:208:272:6990:6369 . . . . . 0/1:-505.238,0,-597.496:781:355:383:9790:10831 . . 1/1:-776.854,-116.816,0:449:5:413:10779:136 . . 0/1:-316.863,0,-468.791:585:300:264:6687:9113 0/1:-263.712,0,-454.562:549:297:236:6071:9044 0/1:-416.155,0,-621.831:755:366:350:8824:11284 0/1:-321.818,0,-503.1:577:302:252:6633:9463 . . . 0/1:-381.979,0,-570.24:730:365:337:8463:11050 . . . . . . 0/1:-431.08,0,-519.193:711:329:343:8745:10040 0/1:-204.453,0,-260.979:381:178:179:4210:5383 . . . 0/1:-460.105,0,-655.18:857:436:386:9878:13080 . 0/1:-173.267,0,-305.157:376:183:174:4375:5640 . . . 0/1:-272.208,0,-444.654:546:288:248:6308:8762 . 0/1:-337.47,0,-410.538:579:283:272:7024:8550 . . . 0/1:-184.243,0,-213.453:366:164:170:4276:4861 . 0/1:-349.619,0,-528.339:723:354:333:8106:10554 . . . 1/1:-405.297,-58.3833,0:292:12:260:6397:297 1/1:-976.337,-146.424,0:608:13:539:13553:294 . . . . . . . . 0/1:-354.546,0,-463.736:608:286:293:7387:8910 . . 0/1:-319.272,0,-499.834:641:328:284:6977:10137 1/1:-1138.96,-178.089,0:704:11:639:16221:267 . . 0/1:-845.586,0,-851.25:892:425:455:13181:13198:425,455 1/1:-2003.97,-220.888,0:857:15:826:23881:453:15,826 . . 0/1:-684.724,0,-727.871:735:354:365:10506:11062:354,365 0/1:-931.481,0,-1044.08:1029:505:505:14632:15978:505,505 . . 0/1:-664.379,0,-674.476:713:329:362:10349:10586:329,362 . 0/1:-744.336,0,-963.764:887:469:404:11866:14635:469,404 . . 0/1:-759,0,-886.814:833:421:397:11791:13513:421,397 0/1:-892.764,0,-960.18:966:465:485:14036:14785:465,485 . 0/1:-922.704,0,-1009.11:1007:496:494:14270:15457:496,494 1/1:-1752.07,-196.827,0:769:13:730:20895:363:13,730 0/1:-676.596,0,-753.423:738:360:362:10564:11466:360,362 0/1:-724.198,0,-1028.61:922:485:416:11749:15372:485,416 chr1 3331099 . C T 11263.00 . AB=0.471612;ABP=12.2567;AC=1;AF=0.5;AN=2;AO=623;CIGAR=1X;DP=1321;DPB=1321;DPRA=0;EPP=5.94161;EPPR=8.21143;GTI=0;LEN=1;MEANALT=3;MQM=37.5762;MQMR=38.2964;NS=1;NUMALT=1;ODDS=2593.4;PAIRED=0.924559;PAIREDR=0.928144;PAO=0;PQA=0;PQR=0;PRO=0;QA=19048;QR=20920;RO=668;RPL=140;RPP=413.077;RPPR=331.735;RPR=483;RUN=1;SAF=390;SAP=88.9246;SAR=233;SF=1;SRF=429;SRP=120.361;SRR=239;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0098;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0098;1000g2015aug_all=0.00199681;avsnp147=rs181889448;Kaviar_AF=0.0057179;Kaviar_AC=884;Kaviar_AN=154602;ExAC_ALL=0.0093;ExAC_AFR=0.0031;ExAC_AMR=0.0045;ExAC_EAS=0;ExAC_FIN=0.0039;ExAC_NFE=0.0124;ExAC_OTH=0.0099;ExAC_SAS=0.0101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1892;dpsi_zscore=-0.665;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0067;gnomAD_exome_AFR=0.0019;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0089;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0096;gnomAD_exome_OTH=0.0072;gnomAD_exome_SAS=0.0079;gnomAD_genome_ALL=0.0047;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1187.05,0,-1359.35:1321:668:623:19048:20920:668,623 . . . chr1 3335362 . G A 1206.22 . AB=0.370288;ABP=68.92;AC=2;AF=0.5;AN=4;AO=167;CIGAR=1X;DP=1109;DPB=451;DPRA=0;EPP=3.12733;EPPR=4.63476;GTI=0;LEN=1;MEANALT=3;MQM=25.9701;MQMR=29.9542;NS=1;NUMALT=1;ODDS=266.667;PAIRED=0.856287;PAIREDR=0.80916;PAO=0;PQA=0;PQR=0;PRO=0;QA=4335;QR=8146;RO=262;RPL=100;RPP=17.1704;RPPR=36.9582;RPR=67;RUN=1;SAF=68;SAP=15.506;SAR=99;SF=0;SRF=139;SRP=5.13204;SRR=123;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0147;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0147;esp6500siv2_ea=0.0185;1000g2015aug_all=0.0233626;avsnp147=rs118065753;Kaviar_AF=0.0034864;Kaviar_AC=539;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2059;dpsi_zscore=0.734;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0151;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0191;gnomAD_genome_FIN=0.0155;gnomAD_genome_NFE=0.0221;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-129.653,0,-427.746:451:262:167:4335:8146 . . . . . . . . 0/1:-150.537,0,-639.617:658:411:211:5574:12372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3342128 . G A 3762.28 . AB=0.453125;ABP=17.6677;AC=2;AF=0.5;AN=4;AO=348;CIGAR=1X;DP=1561;DPB=768;DPRA=0;EPP=125.312;EPPR=218.53;GTI=0;LEN=1;MEANALT=3;MQM=30.7615;MQMR=31.0501;NS=1;NUMALT=1;ODDS=877.964;PAIRED=0.747126;PAIREDR=0.804511;PAO=0;PQA=0;PQR=0;PRO=0;QA=9800;QR=13139;RO=399;RPL=22;RPP=579.674;RPPR=529.394;RPR=326;RUN=1;SAF=254;SAP=162.751;SAR=94;SF=0;SRF=325;SRP=345.88;SRR=74;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0206;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0206;1000g2015aug_all=0.00539137;avsnp147=rs41301967;Kaviar_AF=0.0131434;Kaviar_AC=2032;Kaviar_AN=154602;ExAC_ALL=0.0126;ExAC_AFR=0.0043;ExAC_AMR=0.0047;ExAC_EAS=0.0001;ExAC_FIN=0.0144;ExAC_NFE=0.0185;ExAC_OTH=0.0161;ExAC_SAS=0.0045;CLNALLELEID=365137;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0207;dpsi_zscore=-0.109;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0125;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0074;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0146;gnomAD_exome_NFE=0.0203;gnomAD_exome_OTH=0.0130;gnomAD_exome_SAS=0.0042;gnomAD_genome_ALL=0.0148;gnomAD_genome_AFR=0.0058;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0221;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-487.597,0,-703.085:768:399:348:9800:13139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-481.056,0,-734.763:793:439:331:9328:14288 . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3342326 . G C 6413.73 . AB=0.551392;ABP=24.4367;AC=1;AF=0.5;AN=2;AO=515;CIGAR=1X;DP=934;DPB=934;DPRA=0;EPP=64.7434;EPPR=148.294;GTI=0;LEN=1;MEANALT=3;MQM=27.2311;MQMR=29.3259;NS=1;NUMALT=1;ODDS=1143.42;PAIRED=0.846602;PAIREDR=0.79602;PAO=0;PQA=0;PQR=0;PRO=0;QA=14732;QR=12432;RO=402;RPL=399;RPP=340.702;RPPR=451.047;RPR=116;RUN=1;SAF=169;SAP=135.108;SAR=346;SF=0;SRF=140;SRP=83.4088;SRR=262;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;1000g2015aug_all=.;avsnp147=rs200643126;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0002;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0.0046;ExAC_NFE=0.0026;ExAC_OTH=0.0023;ExAC_SAS=0;CLNALLELEID=228460;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0926;dpsi_zscore=-0.426;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0052;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-707.655,0,-580.048:934:402:515:14732:12432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3342804 . G T 12668.17 . AB=0.48048;ABP=7.41845;AC=64;AF=0.5;AN=108;AO=640;CIGAR=1X;DP=71412;DPB=1332;DPRA=0;EPP=12.1848;EPPR=5.9272;GTI=0;LEN=1;MEANALT=3;MQM=33.3516;MQMR=34.5;NS=1;NUMALT=1;ODDS=1979.47;PAIRED=0.957812;PAIREDR=0.938806;PAO=0;PQA=0;PQR=0;PRO=0;QA=16764;QR=18982;RO=670;RPL=440;RPP=198.443;RPPR=154.223;RPR=200;RUN=1;SAF=182;SAP=261.47;SAR=458;SF=0,1;SRF=171;SRP=351.69;SRR=499;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.3151;esp6500siv2_ea=0.2724;esp6500siv2_all=0.3151;esp6500siv2_ea=0.2724;1000g2015aug_all=0.379393;avsnp147=rs870171;Kaviar_AF=0.292745;Kaviar_AC=45259;Kaviar_AN=154602;ExAC_ALL=0.2980;ExAC_AFR=0.4221;ExAC_AMR=0.2738;ExAC_EAS=0.4897;ExAC_FIN=0.2227;ExAC_NFE=0.2679;ExAC_OTH=0.3011;ExAC_SAS=0.2917;CLNALLELEID=228464;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0135;dpsi_zscore=-0.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2942;gnomAD_exome_AFR=0.4202;gnomAD_exome_AMR=0.2794;gnomAD_exome_ASJ=0.2749;gnomAD_exome_EAS=0.4962;gnomAD_exome_FIN=0.2319;gnomAD_exome_NFE=0.2693;gnomAD_exome_OTH=0.2882;gnomAD_exome_SAS=0.2755;gnomAD_genome_ALL=0.3182;gnomAD_genome_AFR=0.4240;gnomAD_genome_AMR=0.3126;gnomAD_genome_ASJ=0.2748;gnomAD_genome_EAS=0.5156;gnomAD_genome_FIN=0.2263;gnomAD_genome_NFE=0.2621;gnomAD_genome_OTH=0.2577;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-915.567,0,-1104.16:1332:670:640:16764:18982 . 0/1:-769.291,0,-965.043:1119:580:522:14173:16786 0/1:-1007.41,0,-1211.71:1453:737:693:18396:21130 . . 0/1:-788.083,0,-926.594:1161:582:556:14732:16563 0/1:-1080.46,0,-1107.01:1401:672:710:18966:19657 . . . . . 0/1:-2133.26,0,-2195.04:2758:1325:1383:37179:38176 0/1:-950.918,0,-1044.83:1305:661:623:16839:18325 . 0/1:-652.805,0,-733.19:899:454:430:11729:12768 . 0/1:-480.976,0,-679.424:822:435:370:9572:12353 . . 0/1:-733.156,0,-732.155:1071:521:527:14122:14319 . 1/1:-2022.58,-197.122,0:1075:66:987:27190:1574 . . 0/1:-853.117,0,-802.781:1045:500:525:14756:14242 1/1:-3177.8,-410.002,0:1592:44:1520:41777:823 . 1/1:-2561.05,-324.182,0:1328:50:1250:34124:924 0/1:-1085.86,0,-1142.66:1395:691:688:19235:19528 . . . . 0/1:-595.982,0,-671.786:870:435:415:10961:11969 0/1:-1195.56,0,-1343.01:1630:817:787:20980:23233 0/1:-923.842,0,-930.416:1227:596:606:16382:16669 . 0/1:-1127.56,0,-1034.19:1409:637:732:19641:18566 . . . . . 1/1:-3104.12,-374.378,0:1587:63:1491:40331:1301 0/1:-1026,0,-1079.9:1415:699:681:18302:19441 0/1:-832.728,0,-927.441:1229:592:603:15817:16969 . 0/1:-1118.71,0,-1251.22:1517:760:729:19882:21731 . . 0/1:-994.265,0,-1246.7:1429:748:658:18227:21182 . . 0/1:-1040.75,0,-1105.39:1423:685:702:18598:19690 0/1:-511.548,0,-730.906:905:486:400:10437:13374 0/1:-1088.51,0,-1298.31:1603:820:746:20315:23078 0/1:-856.588,0,-915.854:1152:550:575:15572:16179 . . 0/1:-834.173,0,-1194.85:1296:696:572:15488:19994 . 0/1:-1024.26,0,-1175.82:1399:699:677:18240:20314 0/1:-754.846,0,-1040.19:1214:638:543:14368:17938 . . . . . 0/1:-688.059,0,-879.546:1029:533:476:12989:15215 0/1:-972.971,0,-1272.38:1531:805:703:18607:22546 1/1:-2773.28,-314.264,0:1452:73:1359:37437:1553 0/1:-1023.25,0,-1186.43:1411:709:681:18270:20671 . . . 0/1:-1109.32,0,-1116.05:1502:721:750:19981:20397 . 1/1:-2324.5,-279.177,0:1192:55:1115:31113:1125 . 1/1:-2391.29,-284.725,0:1250:55:1164:31564:1069 . . 0/1:-638.209,0,-658.152:831:415:401:10881:11649 0/1:-914.435,0,-1093.04:1303:655:630:16973:18769 . 0/1:-898.104,0,-1073.44:1284:657:602:16455:18746 0/1:-1040.92,0,-1365.17:1556:808:721:19451:23425 0/1:-868.728,0,-1166.12:1380:735:615:16547:20409 0/1:-1067.02,0,-1172.8:1501:736:721:19323:20946 . 0/1:-1470.75,0,-1470.2:1493:746:736:22656:22559:746,736 . . 0/1:-895.717,0,-903.553:895:445:446:13643:13911:445,446 . . 1/1:-3269.61,-335.668,0:1292:25:1255:39176:564:25,1255 0/1:-1478.32,0,-1563.02:1518:766:747:22831:23762:766,747 0/1:-1279.29,0,-1248.78:1274:632:638:19658:19377:632,638 . . 0/1:-1003.11,0,-1175.44:1083:573:508:15749:17586:573,508 . 1/1:-3276.97,-334.406,0:1306:30:1272:39429:677:30,1272 1/1:-3780.62,-372.062,0:1528:41:1481:45853:1019:41,1481 . 0/1:-1522.52,0,-1475.45:1524:745:772:23558:22735:745,772 . 0/1:-1266.39,0,-1214.88:1216:595:614:19146:18488:595,614 . chr1 3350396 . C T 4554.89 . AB=0.454444;ABP=19.2336;AC=1;AF=0.5;AN=2;AO=409;CIGAR=1X;DP=900;DPB=900;DPRA=0;EPP=3.14303;EPPR=21.5001;GTI=0;LEN=1;MEANALT=3;MQM=30.2787;MQMR=30.5149;NS=1;NUMALT=1;ODDS=1048.8;PAIRED=0.929095;PAIREDR=0.869565;PAO=0;PQA=0;PQR=0;PRO=0;QA=9957;QR=13382;RO=437;RPL=319;RPP=281.431;RPPR=203.765;RPR=90;RUN=1;SAF=149;SAP=68.4252;SAR=260;SF=0;SRF=165;SRP=59.9009;SRR=272;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=PRDM16;GeneDetail.refGene=NM_199454:c.*21C>T,NM_022114:c.*21C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000998403;avsnp147=rs373722939;Kaviar_AF=0.0005498;Kaviar_AC=85;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0.0083;ExAC_FIN=0;ExAC_NFE=6.257e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=5.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0086;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.376e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.519e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0049;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.669e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-499.522,0,-688.876:900:437:409:9957:13382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 3350409 . G A 3283.63 . AB=0.416526;ABP=38.9;AC=3;AF=0.5;AN=6;AO=247;CIGAR=1X;DP=2120;DPB=593;DPRA=0;EPP=3.01909;EPPR=15.0558;GTI=0;LEN=1;MEANALT=3;MQM=27.3684;MQMR=28.6761;NS=1;NUMALT=1;ODDS=528.26;PAIRED=0.846154;PAIREDR=0.889937;PAO=0;PQA=0;PQR=0;PRO=0;QA=6732;QR=9394;RO=318;RPL=193;RPP=172.869;RPPR=214.531;RPR=54;RUN=1;SAF=75;SAP=85.7285;SAR=172;SF=0;SRF=117;SRP=51.1924;SRR=201;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=PRDM16;GeneDetail.refGene=NM_199454:c.*34G>A,NM_022114:c.*34G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0208;esp6500siv2_ea=0.0266;esp6500siv2_all=0.0208;esp6500siv2_ea=0.0266;1000g2015aug_all=0.0982428;avsnp147=rs3748837;Kaviar_AF=0.0558466;Kaviar_AC=8634;Kaviar_AN=154602;ExAC_ALL=0.0639;ExAC_AFR=0.0113;ExAC_AMR=0.0494;ExAC_EAS=0.3240;ExAC_FIN=0.0339;ExAC_NFE=0.0286;ExAC_OTH=0.0568;ExAC_SAS=0.1091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0611;gnomAD_exome_AFR=0.0103;gnomAD_exome_AMR=0.0431;gnomAD_exome_ASJ=0.0330;gnomAD_exome_EAS=0.3178;gnomAD_exome_FIN=0.0299;gnomAD_exome_NFE=0.0277;gnomAD_exome_OTH=0.0431;gnomAD_exome_SAS=0.1070;gnomAD_genome_ALL=0.0361;gnomAD_genome_AFR=0.0075;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.3154;gnomAD_genome_FIN=0.0275;gnomAD_genome_NFE=0.0244;gnomAD_genome_OTH=0.0336;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-265.119,0,-466.226:593:318:247:6732:9394 . 0/1:-446.407,0,-589.356:802:400:365:9707:12263 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-380.983,0,-531.771:725:370:323:8839:11196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 11905995 . C A 5128.81 . AB=0.416935;ABP=58.9263;AC=15;AF=0.5;AN=30;AO=389;CIGAR=1X;DP=12668;DPB=933;DPRA=0;EPP=12.394;EPPR=54.5992;GTI=0;LEN=1;MEANALT=3;MQM=33.9743;MQMR=37.3314;NS=1;NUMALT=1;ODDS=1155.17;PAIRED=0.946015;PAIREDR=0.886364;PAO=0;PQA=0;PQR=0;PRO=0;QA=10120;QR=15320;RO=528;RPL=141;RPP=66.9208;RPPR=15.0027;RPR=248;RUN=1;SAF=245;SAP=59.9542;SAR=144;SF=0,1;SRF=271;SRP=3.81638;SRR=257;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;genomicSuperDups=.;esp6500siv2_all=0.0482;esp6500siv2_ea=0.0641;esp6500siv2_all=0.0482;esp6500siv2_ea=0.0641;1000g2015aug_all=0.0221645;avsnp147=rs5066;Kaviar_AF=0.0093272;Kaviar_AC=1442;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0349;gnomAD_genome_AFR=0.0139;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0332;gnomAD_genome_NFE=0.0516;gnomAD_genome_OTH=0.0306;Whole_Blood=Whole_Blood::0.0542005::-0.741789;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-527.171,0,-985.647:933:528:389:10120:15320 . 0/1:-602.488,0,-818.521:934:478:436:11391:13528 . . . 0/1:-507.788,0,-827.725:852:477:364:9651:13371 . . . . . . . . . . . . . . . . . 0/1:-536.087,0,-959.078:959:536:409:10313:15065 . . . . . . . . . . 0/1:-512.95,0,-779.561:813:429:368:9418:12298 . . 0/1:-822.052,0,-1174.42:1205:633:558:14674:18514 . . . . . . 0/1:-305.325,0,-458.464:512:262:244:5858:7445 . . . 0/1:-444.235,0,-808.517:843:464:363:8875:13123 . . . 0/1:-419.939,0,-773.621:751:408:332:8198:11968 . 0/1:-313.972,0,-528.758:571:313:248:6365:8693 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-705.342,0,-1161.28:1183:642:523:13314:18397 . . . . 0/1:-312.107,0,-834.231:688:421:259:6559:12599 . . . . . . . . . . . . 0/1:-440.671,0,-660.624:558:309:245:7192:9587:309,245 . 0/1:-869.524,0,-1024.17:974:499:469:13751:15484:499,469 0/1:-729.649,0,-1057.84:892:496:394:11694:15399:496,394 . . . . . . . . . . . . . chr1 11906068 . A G 9048.18 . AB=0.464824;ABP=15.8427;AC=30;AF=0.5;AN=60;AO=555;CIGAR=1X;DP=33529;DPB=1194;DPRA=0;EPP=3.32722;EPPR=5.19576;GTI=0;LEN=1;MEANALT=3;MQM=34.5369;MQMR=37.277;NS=1;NUMALT=1;ODDS=2047.46;PAIRED=0.899099;PAIREDR=0.866345;PAO=0;PQA=0;PQR=0;PRO=0;QA=15956;QR=18988;RO=621;RPL=249;RPP=15.7222;RPPR=59.4091;RPR=306;RUN=1;SAF=287;SAP=4.42274;SAR=268;SF=0,1;SRF=290;SRP=8.88831;SRR=331;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NPPA;GeneDetail.refGene=.;ExonicFunc.refGene=stoploss;AAChange.refGene=NPPA:NM_006172:exon3:c.T454C:p.X152R;cytoBand=1p36.22;genomicSuperDups=.;esp6500siv2_all=0.2410;esp6500siv2_ea=0.1552;esp6500siv2_all=0.2410;esp6500siv2_ea=0.1552;1000g2015aug_all=0.179113;avsnp147=rs5065;Kaviar_AF=0.142514;Kaviar_AC=22033;Kaviar_AN=154602;ExAC_ALL=0.1437;ExAC_AFR=0.4078;ExAC_AMR=0.0797;ExAC_EAS=0.0117;ExAC_FIN=0.0755;ExAC_NFE=0.1343;ExAC_OTH=0.1531;ExAC_SAS=0.1559;CLNALLELEID=228268;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=1.595;CADD_phred=13.82;DANN_score=0.790;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.093;integrated_confidence_value=0;GERP++_RS=0.954;phyloP7way_vertebrate=-0.889;phyloP20way_mammalian=-0.231;phastCons7way_vertebrate=0.966;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=2.125;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM040788#"Stroke_increased_risk_association_with";gnomAD_exome_ALL=0.1368;gnomAD_exome_AFR=0.4147;gnomAD_exome_AMR=0.0888;gnomAD_exome_ASJ=0.1187;gnomAD_exome_EAS=0.0104;gnomAD_exome_FIN=0.0764;gnomAD_exome_NFE=0.1405;gnomAD_exome_OTH=0.1457;gnomAD_exome_SAS=0.1561;gnomAD_genome_ALL=0.2008;gnomAD_genome_AFR=0.4126;gnomAD_genome_AMR=0.0967;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.0093;gnomAD_genome_FIN=0.0764;gnomAD_genome_NFE=0.1399;gnomAD_genome_OTH=0.1268;Whole_Blood=Whole_Blood::0.173442::-0.262715;Liver=Liver::0.156863::-0.803226;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-899.495,0,-1198.4:1194:621:555:15956:18988 . 0/1:-1030.2,0,-1078.37:1238:576:634:18123:17728 . . . 0/1:-964.521,0,-979.322:1129:527:578:16659:16160 . . . 0/1:-993.774,0,-1064.61:1191:571:589:16769:17440 . . . 0/1:-721.837,0,-964.474:966:510:439:12556:15518 . . . . 0/1:-1027.57,0,-1335.28:1350:695:619:17716:21270 . . . . 0/1:-935.589,0,-1240.59:1233:638:567:16475:19535 . 0/1:-737.403,0,-863.644:978:495:466:12854:14794 . . . . . . . . 0/1:-919.616,0,-908.545:1040:485:534:15584:14838 0/1:-950.462,0,-994.959:1131:552:558:15985:16640 . 0/1:-1284.49,0,-1408.2:1512:730:760:21650:22506 . . . . . 0/1:-958.326,0,-1079.73:1200:589:587:16613:17859 0/1:-529.373,0,-558.343:618:298:312:8974:9157 . . . 0/1:-801.931,0,-896.213:1045:509:507:14101:15433 . . . 0/1:-714.744,0,-984.184:992:522:445:12789:15916 . 0/1:-470.288,0,-647.432:697:354:328:9195:10700 0/1:-600.043,0,-866.974:865:457:390:10990:13883 . 0/1:-480.261,0,-751.485:748:402:323:8984:12138 . 0/1:-882.662,0,-1040:1124:557:546:15089:16767 . . . . . . . . . 0/1:-1080.25,0,-1215.47:1318:644:640:18492:19430 . . 0/1:-1009.37,0,-1216.24:1285:648:613:17335:20048 . . 0/1:-669.563,0,-674.175:787:385:391:11229:11641 . 0/1:-1041.93,0,-1260.88:1362:687:643:18001:20822 0/1:-1179.46,0,-1282.23:1439:692:717:20268:20829 . . . . 0/1:-601.429,0,-1015.28:889:505:373:10938:15521 . . . 0/1:-1345.38,0,-1563.61:1648:812:789:22706:25138 . . . . . . . . 0/1:-665.844,0,-787.09:716:370:337:10366:11637:370,337 . 0/1:-1343.75,0,-1477.88:1416:705:689:20988:22218:705,689 0/1:-1116.85,0,-1375.06:1206:635:551:17338:20059:635,551 0/1:-1263.23,0,-1166.94:1212:568:628:19155:17869:568,628 . . . . . . . . . . . . chr1 11907430 . T G 3737.33 . AB=0.4729;ABP=7.7181;AC=2;AF=0.5;AN=4;AO=349;CIGAR=1X;DP=1099;DPB=738;DPRA=0;EPP=4.80845;EPPR=3.38389;GTI=0;LEN=1;MEANALT=3;MQM=33.6447;MQMR=33.5806;NS=1;NUMALT=1;ODDS=1128.88;PAIRED=0.982808;PAIREDR=0.97043;PAO=0;PQA=0;PQR=0;PRO=0;QA=8941;QR=10903;RO=372;RPL=145;RPP=24.669;RPPR=21.316;RPR=204;RUN=1;SAF=197;SAP=15.6098;SAR=152;SF=0;SRF=190;SRP=3.38389;SRR=182;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NPPA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NPPA:NM_006172:exon2:c.A190C:p.S64R;cytoBand=1p36.22;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0028;1000g2015aug_all=0.000599042;avsnp147=rs61757261;Kaviar_AF=0.0018499;Kaviar_AC=286;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0005;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0028;ExAC_OTH=0.0011;ExAC_SAS=0.0012;CLNALLELEID=132361;CLNDN=Atrial_fibrillation,_familial,_6;CLNDISDB=MedGen:C2677294,OMIM:612201;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.462;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.083;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.095;MutationAssessor_pred=M;FATHMM_score=0.91;FATHMM_pred=T;PROVEAN_score=-0.59;PROVEAN_pred=N;VEST3_score=0.634;CADD_raw=-0.738;CADD_phred=0.059;DANN_score=0.785;fathmm-MKL_coding_score=0.068;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.003;MetaSVM_pred=T;MetaLR_score=0.101;MetaLR_pred=T;integrated_fitCons_score=0.421;integrated_confidence_value=0;GERP++_RS=3.54;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.049;phastCons7way_vertebrate=0.157;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=7.273;GDI_full_10282015=.;dpsi_max_tissue=0.1379;dpsi_zscore=0.588;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM109498#"Atrial_fibrillation";gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0054;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-501.673,0,-626.343:738:372:349:8941:10903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-266.67,0,-258.195:361:172:187:4765:4783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 11907603 . G A 7460.26 . AB=0.449153;ABP=24.2098;AC=15;AF=0.5;AN=30;AO=424;CIGAR=1X;DP=14218;DPB=944;DPRA=0;EPP=121.335;EPPR=122.441;GTI=0;LEN=1;MEANALT=3;MQM=33.9033;MQMR=34.2485;NS=1;NUMALT=1;ODDS=1487.7;PAIRED=0.924528;PAIREDR=0.90101;PAO=0;PQA=0;PQR=0;PRO=0;QA=12103;QR=15757;RO=495;RPL=192;RPP=11.2045;RPPR=4.59394;RPR=232;RUN=1;SAF=190;SAP=12.9253;SAR=234;SF=0,1;SRF=208;SRP=30.3884;SRR=287;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_exonic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;genomicSuperDups=.;esp6500siv2_all=0.1552;esp6500siv2_ea=0.0877;esp6500siv2_all=0.1552;esp6500siv2_ea=0.0877;1000g2015aug_all=0.129593;avsnp147=rs5064;Kaviar_AF=0.0886405;Kaviar_AC=13704;Kaviar_AN=154602;ExAC_ALL=0.0894;ExAC_AFR=0.2858;ExAC_AMR=0.0519;ExAC_EAS=0.0086;ExAC_FIN=0.0432;ExAC_NFE=0.0753;ExAC_OTH=0.1013;ExAC_SAS=0.1093;CLNALLELEID=45324;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0761;dpsi_zscore=0.404;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0852;gnomAD_exome_AFR=0.2916;gnomAD_exome_AMR=0.0580;gnomAD_exome_ASJ=0.0594;gnomAD_exome_EAS=0.0075;gnomAD_exome_FIN=0.0436;gnomAD_exome_NFE=0.0805;gnomAD_exome_OTH=0.0896;gnomAD_exome_SAS=0.1108;gnomAD_genome_ALL=0.1347;gnomAD_genome_AFR=0.2897;gnomAD_genome_AMR=0.0680;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0068;gnomAD_genome_FIN=0.0433;gnomAD_genome_NFE=0.0878;gnomAD_genome_OTH=0.0916;Whole_Blood=Whole_Blood::0.102981::-0.261859;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-668.988,0,-940.853:944:495:424:12103:15757 . . . 0/1:-426.546,0,-615.002:647:333:296:8113:10517 . . . . 0/1:-806.365,0,-1019.32:1031:552:457:13884:17300 . . . . . . 0/1:-503.247,0,-594.189:663:320:322:9505:10304 . . . . . . . . . 0/1:-702.118,0,-865.736:936:469:435:12825:14654 . . . . . . . 0/1:-801.37,0,-966.613:1057:531:503:14531:16572 . . . . . . . . . . . 0/1:-689.788,0,-659.253:797:381:398:11537:11870 . 0/1:-367.443,0,-440.928:531:261:251:7175:8285 . 0/1:-796.087,0,-1005.94:991:506:466:13988:16288 . . . . . . . . . 0/1:-889.183,0,-1130.39:1166:592:541:15776:18620 . . 0/1:-941.749,0,-1228.38:1284:670:586:17092:21038 . . 0/1:-476.421,0,-691.473:666:358:294:8729:11533 . 0/1:-744.652,0,-1001.57:993:518:456:13381:16597 . . . . . . . . . 0/1:-1111.81,0,-1305.19:1359:684:643:19188:21475 . . . . . . . . . . . . 0/1:-1059.82,0,-1227.04:1153:579:551:16501:18594:579,551 . . . . . . . . . . . . chr1 11907648 . C T 12679.94 . AB=0.484504;ABP=8.32696;AC=8;AF=0.5;AN=16;AO=1235;CIGAR=1X;DP=11773;DPB=2549;DPRA=0;EPP=33.1841;EPPR=74.0859;GTI=0;LEN=1;MEANALT=3;MQM=35.587;MQMR=35.9206;NS=1;NUMALT=1;ODDS=5083.19;PAIRED=0.897976;PAIREDR=0.914218;PAO=0;PQA=0;PQR=0;PRO=0;QA=37201;QR=39503;RO=1259;RPL=646;RPP=8.72294;RPPR=15.4717;RPR=589;RUN=1;SAF=591;SAP=7.9493;SAR=644;SF=0,1;SRF=595;SRP=11.2219;SRR=664;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NPPA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NPPA:NM_006172:exon1:c.G94A:p.V32M;cytoBand=1p36.22;genomicSuperDups=.;esp6500siv2_all=0.0516;esp6500siv2_ea=0.0471;esp6500siv2_all=0.0516;esp6500siv2_ea=0.0471;1000g2015aug_all=0.0734824;avsnp147=rs5063;Kaviar_AF=0.0558854;Kaviar_AC=8640;Kaviar_AN=154602;ExAC_ALL=0.0562;ExAC_AFR=0.0603;ExAC_AMR=0.0479;ExAC_EAS=0.1135;ExAC_FIN=0.0254;ExAC_NFE=0.0421;ExAC_OTH=0.0385;ExAC_SAS=0.0997;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.783;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_pred=B;LRT_score=0.398;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.065;MutationAssessor_pred=L;FATHMM_score=0.77;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_pred=N;VEST3_score=0.037;CADD_raw=0.267;CADD_phred=5.366;DANN_score=0.819;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_pred=T;integrated_fitCons_score=0.461;integrated_confidence_value=0;GERP++_RS=-0.381;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-1.029;phastCons7way_vertebrate=0.658;phastCons20way_mammalian=0.015;SiPhy_29way_logOdds=4.595;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM057551#"Lower_diastolic_blood_pressure_association_with";gnomAD_exome_ALL=0.0557;gnomAD_exome_AFR=0.0625;gnomAD_exome_AMR=0.0447;gnomAD_exome_ASJ=0.0216;gnomAD_exome_EAS=0.1140;gnomAD_exome_FIN=0.0286;gnomAD_exome_NFE=0.0457;gnomAD_exome_OTH=0.0487;gnomAD_exome_SAS=0.0999;gnomAD_genome_ALL=0.0518;gnomAD_genome_AFR=0.0629;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.1123;gnomAD_genome_FIN=0.0312;gnomAD_genome_NFE=0.0459;gnomAD_genome_OTH=0.0397;Whole_Blood=Whole_Blood::0.0501355::0.751842;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-2220.46,0,-2396.95:2549:1259:1235:37201:39503 . . . 0/1:-927.459,0,-1317.39:1255:679:546:16351:21568 . . . . . . . . . 0/1:-1181.97,0,-1388.48:1458:734:686:20230:22811 . . . . . . . . . . . . . . . . . . . . 0/1:-1242.04,0,-1412.72:1525:774:709:21227:23790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-896.807,0,-968.116:1107:537:535:15727:16563 . . . . . . . . . . . . 0/1:-1315.16,0,-1617.33:1462:765:673:20754:23862:765,673 . . . . . . . 0/1:-1245.5,0,-1244.16:1210:589:603:18829:18837:589,603 . . . . 0/1:-1070.66,0,-1402.67:1207:641:543:16711:20604:641,543 . . . . . . chr1 26383667 . G C 4543.13 . AB=0.541226;ABP=9.99298;AC=1;AF=0.5;AN=2;AO=256;CIGAR=1X;DP=473;DPB=473;DPRA=0;EPP=3.31566;EPPR=6.79726;GTI=0;LEN=1;MEANALT=3;MQM=35.7969;MQMR=35.5507;NS=1;NUMALT=1;ODDS=803.795;PAIRED=0.945312;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=7486;QR=6296;RO=207;RPL=105;RPP=20.9589;RPPR=20.6443;RPR=151;RUN=1;SAF=172;SAP=68.6973;SAR=84;SF=0;SRF=148;SRP=86.1032;SRR=59;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778579355;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7873;dpsi_zscore=-1.828;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.502e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.461e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-471.283,0,-368.096:473:207:256:7486:6296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 26384973 . G A 5538.12 . AB=0.443839;ABP=28.1326;AC=1;AF=0.5;AN=2;AO=407;CIGAR=1X;DP=917;DPB=917;DPRA=0;EPP=109.082;EPPR=79.085;GTI=0;LEN=1;MEANALT=3;MQM=34.0762;MQMR=35.1011;NS=1;NUMALT=1;ODDS=1275.2;PAIRED=0.911548;PAIREDR=0.869474;PAO=0;PQA=0;PQR=0;PRO=0;QA=10668;QR=14138;RO=475;RPL=202;RPP=3.05832;RPPR=5.8675;RPR=205;RUN=1;SAF=235;SAP=24.1862;SAR=172;SF=0;SRF=290;SRP=53.4113;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TRIM63:NM_032588:exon5:c.C739T:p.Q247X;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000199681;avsnp147=rs148395034;Kaviar_AF=0.0004398;Kaviar_AC=68;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=224213;CLNDN=Inborn_genetic_diseases|Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MeSH:D030342,MedGen:C0950123|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.015;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=11.873;CADD_phred=38;DANN_score=0.998;fathmm-MKL_coding_score=0.674;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=9.358;GDI_full_10282015=.;dpsi_max_tissue=-30.5391;dpsi_zscore=-3.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM128455#"Hypertrophic_cardiomyopathy";gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0076;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-575.659,0,-848.226:917:475:407:10668:14138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 26385003 . T C 14030.15 . AB=0.46475;ABP=18.7784;AC=43;AF=0.5;AN=78;AO=679;CIGAR=1X;DP=60057;DPB=1461;DPRA=0;EPP=49.8329;EPPR=103.314;GTI=0;LEN=1;MEANALT=3;MQM=36.3122;MQMR=36.3393;NS=1;NUMALT=1;ODDS=2546.6;PAIRED=0.961708;PAIREDR=0.946207;PAO=0;PQA=0;PQR=0;PRO=0;QA=18813;QR=20978;RO=725;RPL=371;RPP=15.7033;RPPR=54.4098;RPR=308;RUN=1;SAF=364;SAP=10.6888;SAR=315;SF=0,1;SRF=383;SRP=8.04512;SRR=342;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon5:c.A709G:p.K237E;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.2350;esp6500siv2_ea=0.2165;esp6500siv2_all=0.2350;esp6500siv2_ea=0.2165;1000g2015aug_all=0.182308;avsnp147=rs2275950;Kaviar_AF=0.19232;Kaviar_AC=29733;Kaviar_AN=154602;ExAC_ALL=0.1921;ExAC_AFR=0.2706;ExAC_AMR=0.0851;ExAC_EAS=0.1937;ExAC_FIN=0.1959;ExAC_NFE=0.2195;ExAC_OTH=0.1652;ExAC_SAS=0.1062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.47;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;PROVEAN_score=3.31;PROVEAN_pred=N;VEST3_score=0.019;CADD_raw=1.211;CADD_phred=11.80;DANN_score=0.504;fathmm-MKL_coding_score=0.166;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.985;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.016;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=14.221;GDI_full_10282015=.;dpsi_max_tissue=-0.1761;dpsi_zscore=-0.638;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1840;gnomAD_exome_AFR=0.2697;gnomAD_exome_AMR=0.0961;gnomAD_exome_ASJ=0.1877;gnomAD_exome_EAS=0.1980;gnomAD_exome_FIN=0.1851;gnomAD_exome_NFE=0.2175;gnomAD_exome_OTH=0.1867;gnomAD_exome_SAS=0.1056;gnomAD_genome_ALL=0.2103;gnomAD_genome_AFR=0.2614;gnomAD_genome_AMR=0.1559;gnomAD_genome_ASJ=0.1867;gnomAD_genome_EAS=0.1938;gnomAD_genome_FIN=0.1898;gnomAD_genome_NFE=0.1920;gnomAD_genome_OTH=0.1898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-1121.25,0,-1268:1461:725:679:18813:20978 . . 0/1:-1263.93,0,-1520.14:1637:815:758:20979:24276 . 0/1:-1168.48,0,-1445.98:1556:781:714:19621:23062 . . . . . . 1/1:-2513.31,-322.335,0:1201:8:1129:31186:226 0/1:-2384.67,0,-3027.92:3163:1607:1430:39377:47813 . 0/1:-879.975,0,-981.036:1139:539:548:14947:15847 . . . . . . . . . . . . . 0/1:-1139.95,0,-1137.04:1352:616:672:18590:18373 1/1:-3181.5,-373.463,0:1498:29:1412:39345:786 . . 0/1:-1213.59,0,-1430.11:1550:741:742:20433:22535 . 1/1:-1889.39,-238.955,0:887:6:836:23185:173 0/1:-1428.26,0,-1565.35:1738:833:838:23273:24839 . . . . . 0/1:-1078.41,0,-1419.43:1496:752:684:18857:22677 0/1:-729.209,0,-735.395:860:411:417:11687:12004 . 0/1:-1583.11,0,-1697.34:1923:927:931:25593:27259 . . 0/1:-1464.95,0,-1796.84:1920:967:877:24314:28266 1/1:-3744.32,-438.85,0:1788:34:1682:46035:958 . . . 0/1:-667.867,0,-617.018:803:355:412:10838:10280 . . 0/1:-715.216,0,-872.288:1007:493:475:12600:14412 . . 0/1:-791.243,0,-936.286:1067:532:496:13507:15507 . 0/1:-1300.65,0,-1355.94:1564:750:768:21325:22090 0/1:-558.178,0,-738.65:836:416:378:10050:12299 . 0/1:-1027.93,0,-986.216:1220:554:622:16948:16150 0/1:-1049.04,0,-1468.84:1479:770:652:18054:22777 . 0/1:-1279.67,0,-1777.95:1757:893:791:21613:27179 0/1:-1470.93,0,-1840.78:1901:945:888:24399:28819 . . . . . 0/1:-766.648,0,-864.023:985:469:475:12627:13956 . . 0/1:-1259.17,0,-1559.11:1678:839:779:21367:24908 0/1:-1437.71,0,-1519.96:1758:833:857:23435:24453 . . 0/1:-974.72,0,-1372.25:1398:722:623:16673:21589 . . . 0/1:-1084.38,0,-1440.93:1511:761:680:18356:22590 0/1:-1592.7,0,-2000.4:2055:1048:944:26413:31549 . 0/1:-1576.07,0,-1557.04:1841:860:900:25264:25279 0/1:-1173.28,0,-1536.5:1597:822:712:19800:24085 . . . . . . . . . . . 0/1:-1783.9,0,-1980.03:1802:913:867:26926:29239:913,867 0/1:-1780.33,0,-2230.91:1919:1010:869:27057:32683:1010,869 . . . 0/1:-1928.76,0,-2092.06:1966:970:958:29416:31176:970,958 0/1:-1559.96,0,-2144.18:1765:964:775:24231:30927:964,775 . 0/1:-1354.64,0,-1867.96:1523:837:672:21077:27038:837,672 0/1:-1510.08,0,-1599:1456:728:705:22462:23519:728,705 . chr1 26386751 . G T 10054.82 . AB=0.437929;ABP=56.655;AC=3;AF=0.5;AN=6;AO=702;CIGAR=1X;DP=4071;DPB=1603;DPRA=0;EPP=29.1917;EPPR=22.3147;GTI=0;LEN=1;MEANALT=3;MQM=34.9758;MQMR=35.3345;NS=1;NUMALT=1;ODDS=2482.08;PAIRED=0.930199;PAIREDR=0.902357;PAO=0;PQA=0;PQR=0;PRO=0;QA=19677;QR=27038;RO=891;RPL=295;RPP=41.8122;RPPR=154.114;RPR=407;RUN=1;SAF=386;SAP=18.1673;SAR=316;SF=0,1;SRF=492;SRP=24.0889;SRR=399;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769304828;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.477e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=6.073e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2617;dpsi_zscore=-0.795;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.628e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.962e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1099.12,0,-1675.17:1603:891:702:19677:27038 . . . . . . . 0/1:-912.467,0,-1198.97:1241:654:574:16431:19715 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1119.47,0,-1373.26:1227:656:569:17355:20475:656,569 . . . . . chr1 26386817 . C T 6022.05 . AB=0.461628;ABP=14.0091;AC=1;AF=0.5;AN=2;AO=397;CIGAR=1X;DP=860;DPB=860;DPRA=0;EPP=27.5638;EPPR=10.2021;GTI=0;LEN=1;MEANALT=3;MQM=34.6171;MQMR=34.8165;NS=1;NUMALT=1;ODDS=1386.63;PAIRED=0.904282;PAIREDR=0.87844;PAO=0;PQA=0;PQR=0;PRO=0;QA=10936;QR=13371;RO=436;RPL=281;RPP=151.923;RPPR=150.352;RPR=116;RUN=1;SAF=198;SAP=3.01577;SAR=199;SF=0;SRF=201;SRP=8.76769;SRR=235;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon4:c.G537A:p.A179A;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756043069;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7288;dpsi_zscore=-1.293;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.718e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-628.126,0,-792.441:860:436:397:10936:13371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 26387783 . G A 12634.20 . AB=0.453018;ABP=33.8203;AC=1;AF=0.5;AN=2;AO=728;CIGAR=1X;DP=1607;DPB=1607;DPRA=0;EPP=11.7081;EPPR=3.3319;GTI=0;LEN=1;MEANALT=3;MQM=36.1277;MQMR=36.0685;NS=1;NUMALT=1;ODDS=2909.14;PAIRED=0.927198;PAIREDR=0.902081;PAO=0;PQA=0;PQR=0;PRO=0;QA=21541;QR=24435;RO=817;RPL=423;RPP=44.5427;RPPR=60.444;RPR=305;RUN=1;SAF=292;SAP=64.8615;SAR=436;SF=0;SRF=356;SRP=32.3132;SRR=461;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon3:c.C375T:p.H125H;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0026;1000g2015aug_all=0.00119808;avsnp147=rs144196126;Kaviar_AF=0.0011449;Kaviar_AC=177;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0003;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.9762;dpsi_zscore=-1.893;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0035;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1284.07,0,-1500.31:1607:817:728:21541:24435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 26387820 . G A 12894.80 . AB=0.467708;ABP=15.7725;AC=1;AF=0.5;AN=2;AO=659;CIGAR=1X;DP=1409;DPB=1409;DPRA=0;EPP=15.2714;EPPR=7.52851;GTI=0;LEN=1;MEANALT=3;MQM=40.3096;MQMR=40.3064;NS=1;NUMALT=1;ODDS=2969.15;PAIRED=0.972686;PAIREDR=0.964432;PAO=0;PQA=0;PQR=0;PRO=0;QA=20355;QR=23436;RO=731;RPL=474;RPP=278.221;RPPR=390.135;RPR=185;RUN=1;SAF=259;SAP=68.5202;SAR=400;SF=1;SRF=272;SRP=106.887;SRR=459;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon3:c.C338T:p.P113L;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs199936688;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.694e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.649;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.615;MutationAssessor_pred=M;FATHMM_score=1.05;FATHMM_pred=T;PROVEAN_score=-6.99;PROVEAN_pred=D;VEST3_score=0.712;CADD_raw=6.834;CADD_phred=33;DANN_score=0.998;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.706;MetaSVM_pred=T;MetaLR_score=0.215;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.33;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=18.984;GDI_full_10282015=.;dpsi_max_tissue=-0.8979;dpsi_zscore=-1.409;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.5e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1334.74,0,-1590.71:1409:731:659:20355:23436:731,659 chr1 26392824 . C A 5894.12 . AB=0.437965;ABP=29.9516;AC=8;AF=0.5;AN=16;AO=353;CIGAR=1X;DP=6760;DPB=806;DPRA=0;EPP=34.0199;EPPR=3.83497;GTI=0;LEN=1;MEANALT=3;MQM=32.9037;MQMR=32.2899;NS=1;NUMALT=1;ODDS=1025.31;PAIRED=0.926346;PAIREDR=0.87191;PAO=0;PQA=0;PQR=0;PRO=0;QA=9266;QR=13741;RO=445;RPL=191;RPP=8.18369;RPPR=105.606;RPR=162;RUN=1;SAF=172;SAP=3.50857;SAR=181;SF=0,1;SRF=199;SRP=13.7896;SRR=246;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon2:c.G267T:p.V89V;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0844;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0844;1000g2015aug_all=0.0183706;avsnp147=rs35123100;Kaviar_AF=0.0555814;Kaviar_AC=8593;Kaviar_AN=154602;ExAC_ALL=0.0529;ExAC_AFR=0.0135;ExAC_AMR=0.0286;ExAC_EAS=0;ExAC_FIN=0.0604;ExAC_NFE=0.0801;ExAC_OTH=0.0509;ExAC_SAS=0.0102;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1961;dpsi_zscore=-1.577;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0545;gnomAD_exome_AFR=0.0126;gnomAD_exome_AMR=0.0300;gnomAD_exome_ASJ=0.0541;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0655;gnomAD_exome_NFE=0.0864;gnomAD_exome_OTH=0.0498;gnomAD_exome_SAS=0.0105;gnomAD_genome_ALL=0.0659;gnomAD_genome_AFR=0.0140;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0698;gnomAD_genome_NFE=0.1033;gnomAD_genome_OTH=0.0825;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-458.937,0,-770.312:806:445:353:9266:13741 . . . . . . . 0/1:-363.51,0,-587.344:626:355:264:6996:10494 . . . . . . . 0/1:-623.262,0,-881.215:962:502:444:11791:15085 . . . . . . . 0/1:-600.128,0,-904.073:1030:565:441:11794:16932 . . . . . . . . . 0/1:-466.238,0,-666.177:776:413:353:9194:12441 . . . . . . . . . . . . . . . . . . . 0/1:-708.596,0,-784.403:933:452:462:12341:13881 . . . . . . . 0/1:-237.537,0,-428.939:527:293:222:5571:8427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1121.57,0,-1125.89:1100:536:560:17125:17275:536,560 . . . . . . . . . chr1 26393843 . G A 6003.65 . AB=0.454237;ABP=19.1086;AC=1;AF=0.5;AN=2;AO=402;CIGAR=1X;DP=885;DPB=885;DPRA=0;EPP=15.4558;EPPR=16.9683;GTI=0;LEN=1;MEANALT=3;MQM=35.3209;MQMR=37.5034;NS=1;NUMALT=1;ODDS=1382.39;PAIRED=0.965174;PAIREDR=0.940503;PAO=0;PQA=0;PQR=0;PRO=0;QA=10686;QR=13457;RO=437;RPL=159;RPP=41.1245;RPPR=12.1981;RPR=243;RUN=1;SAF=230;SAP=21.1815;SAR=172;SF=0;SRF=247;SRP=19.1547;SRR=190;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon1:c.C143T:p.A48V;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;1000g2015aug_all=0.000399361;avsnp147=rs140523053;Kaviar_AF=0.0013325;Kaviar_AC=206;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0004;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0009;CLNALLELEID=178468;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.215;MutationAssessor_pred=N;FATHMM_score=2.4;FATHMM_pred=T;PROVEAN_score=-3.9;PROVEAN_pred=D;VEST3_score=0.923;CADD_raw=7.006;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.940;MetaSVM_pred=T;MetaLR_score=0.057;MetaLR_pred=T;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.371;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM128453#"Hypertrophic_cardiomyopathy";gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0023;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-615.337,0,-849.846:885:437:402:10686:13457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 26393974 . C T 10933.10 . AB=0.438949;ABP=44.9026;AC=1;AF=0.5;AN=2;AO=568;CIGAR=1X;DP=1294;DPB=1294;DPRA=0;EPP=9.7541;EPPR=3.12262;GTI=0;LEN=1;MEANALT=3;MQM=40.1215;MQMR=39.9641;NS=1;NUMALT=1;ODDS=2517.44;PAIRED=0.975352;PAIREDR=0.965517;PAO=0;PQA=0;PQR=0;PRO=0;QA=17460;QR=21970;RO=696;RPL=355;RPP=80.0976;RPPR=108.639;RPR=213;RUN=1;SAF=224;SAP=58.0617;SAR=344;SF=1;SRF=257;SRP=106.355;SRR=439;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon1:c.G12A:p.K4K;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0010;1000g2015aug_all=0.0415335;avsnp147=rs3795690;Kaviar_AF=0.0153297;Kaviar_AC=2370;Kaviar_AN=154602;ExAC_ALL=0.0163;ExAC_AFR=0.0892;ExAC_AMR=0.0045;ExAC_EAS=0.0982;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0066;ExAC_SAS=0.0034;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0144;gnomAD_exome_AFR=0.0904;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0024;gnomAD_exome_EAS=0.0978;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0084;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0316;gnomAD_genome_AFR=0.0888;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.1082;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1118.19,0,-1498.84:1294:696:568:17460:21970:696,568 . . . . . chr1 74701107 . C T 4284.66 . AB=0.446394;ABP=15.8148;AC=1;AF=0.5;AN=2;AO=229;CIGAR=1X;DP=513;DPB=513;DPRA=0;EPP=10.985;EPPR=12.826;GTI=0;LEN=1;MEANALT=3;MQM=41.0349;MQMR=40.5941;NS=1;NUMALT=1;ODDS=986.579;PAIRED=0.995633;PAIREDR=0.98524;PAO=0;PQA=0;PQR=0;PRO=0;QA=6779;QR=8044;RO=271;RPL=73;RPP=68.3346;RPPR=22.2491;RPR=156;RUN=1;SAF=119;SAP=3.77838;SAR=110;SF=0;SRF=129;SRP=4.36447;SRR=142;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=TNNI3K;GeneDetail.refGene=NM_015978:c.-29C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0099;esp6500siv2_ea=0.0136;esp6500siv2_all=0.0099;esp6500siv2_ea=0.0136;1000g2015aug_all=0.00559105;avsnp147=rs41289180;Kaviar_AF=0.0090102;Kaviar_AC=1393;Kaviar_AN=154602;ExAC_ALL=0.0089;ExAC_AFR=0.0017;ExAC_AMR=0.0057;ExAC_EAS=0;ExAC_FIN=0.0196;ExAC_NFE=0.0124;ExAC_OTH=0.0088;ExAC_SAS=0.0020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0091;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0043;gnomAD_exome_EAS=7.161e-05;gnomAD_exome_FIN=0.0190;gnomAD_exome_NFE=0.0121;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0095;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0161;gnomAD_genome_NFE=0.0129;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-444.04,0,-548.705:513:271:229:6779:8044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74715119 . T A 4119.71 . AB=0.483516;ABP=4.0841;AC=1;AF=0.5;AN=2;AO=220;CIGAR=1X;DP=455;DPB=455;DPRA=0;EPP=54.1781;EPPR=50.3973;GTI=0;LEN=1;MEANALT=3;MQM=40.6955;MQMR=39.6494;NS=1;NUMALT=1;ODDS=948.599;PAIRED=0.995455;PAIREDR=0.978355;PAO=0;PQA=0;PQR=0;PRO=0;QA=6452;QR=7061;RO=231;RPL=91;RPP=17.2631;RPPR=5.12537;RPR=129;RUN=1;SAF=109;SAP=3.04978;SAR=111;SF=0;SRF=124;SRP=5.72699;SRR=107;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs202177393;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=2.506e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.55e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3909;dpsi_zscore=1.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.725e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-425.882,0,-465.101:455:231:220:6452:7061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74737274 . C T 7006.50 . AB=0.503759;ABP=3.09193;AC=5;AF=0.5;AN=10;AO=335;CIGAR=1X;DP=3629;DPB=665;DPRA=0;EPP=3.17235;EPPR=10.4233;GTI=0;LEN=1;MEANALT=3;MQM=39.4507;MQMR=40.348;NS=1;NUMALT=1;ODDS=1468.05;PAIRED=0.997015;PAIREDR=0.981191;PAO=0;PQA=0;PQR=0;PRO=0;QA=10122;QR=9785;RO=319;RPL=164;RPP=3.32792;RPPR=7.97269;RPR=171;RUN=1;SAF=144;SAP=17.3291;SAR=191;SF=0,1;SRF=129;SRP=28.3396;SRR=190;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0083;1000g2015aug_all=0.00579073;avsnp147=rs45443204;Kaviar_AF=0.0055433;Kaviar_AC=857;Kaviar_AN=154602;ExAC_ALL=0.0057;ExAC_AFR=0.0011;ExAC_AMR=0.0054;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0086;ExAC_OTH=0.0067;ExAC_SAS=0.0025;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.2094;dpsi_zscore=2.277;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0055;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0061;gnomAD_exome_ASJ=0.0145;gnomAD_exome_EAS=6.193e-05;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0077;gnomAD_exome_OTH=0.0090;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0039;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0132;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0054;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-673.448,0,-648.986:665:319:335:10122:9785 . . . . 0/1:-722.9,0,-812.087:764:392:359:10951:11976 . . 0/1:-996.016,0,-1069.41:1030:512:494:15157:15817 . . . . . . . . . . . . . 0/1:-697.986,0,-825.823:767:389:362:10778:12142 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-416.679,0,-452.847:403:206:196:6238:6599:206,196 . . . chr1 74801692 . T G 8124.45 . AB=0.49442;ABP=3.25265;AC=1;AF=0.5;AN=2;AO=443;CIGAR=1X;DP=896;DPB=896;DPRA=0;EPP=5.17197;EPPR=10.0408;GTI=0;LEN=1;MEANALT=3;MQM=40.2754;MQMR=39.8879;NS=1;NUMALT=1;ODDS=1870.72;PAIRED=0.972912;PAIREDR=0.982063;PAO=0;PQA=0;PQR=0;PRO=0;QA=12599;QR=13512;RO=446;RPL=205;RPP=8.3483;RPPR=6.82742;RPR=238;RUN=1;SAF=280;SAP=70.1103;SAR=163;SF=0;SRF=275;SRP=55.6709;SRR=171;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.3388;dpsi_zscore=-2.402;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-827.807,0,-885.828:896:446:443:12599:13512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74808620 . G C 12251.70 . AB=0.462676;ABP=19.3822;AC=1;AF=0.5;AN=2;AO=626;CIGAR=1X;DP=1353;DPB=1353;DPRA=0;EPP=4.39782;EPPR=18.298;GTI=0;LEN=1;MEANALT=3;MQM=40.0367;MQMR=40.3836;NS=1;NUMALT=1;ODDS=2821.06;PAIRED=0.966454;PAIREDR=0.951149;PAO=0;PQA=0;PQR=0;PRO=0;QA=19018;QR=21883;RO=696;RPL=354;RPP=26.3345;RPPR=29.4174;RPR=272;RUN=1;SAF=245;SAP=67.1693;SAR=381;SF=0;SRF=273;SRP=73.2088;SRR=423;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon8:c.G777C:p.L259F,FPGT-TNNI3K:NM_001112808:exon10:c.G1119C:p.L373F,FPGT-TNNI3K:NM_001199327:exon10:c.G1119C:p.L373F;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0016;1000g2015aug_all=0.00119808;avsnp147=rs150107405;Kaviar_AF=0.001423;Kaviar_AC=220;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0003;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0022;ExAC_OTH=0.0011;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.6;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.042;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=0.71;MutationAssessor_pred=N;FATHMM_score=2.37;FATHMM_pred=T;PROVEAN_score=-0.72;PROVEAN_pred=N;VEST3_score=0.105;CADD_raw=-2.697;CADD_phred=0.001;DANN_score=0.601;fathmm-MKL_coding_score=0.097;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.928;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-9.25;phyloP7way_vertebrate=-1.686;phyloP20way_mammalian=-0.282;phastCons7way_vertebrate=0.617;phastCons20way_mammalian=0.093;SiPhy_29way_logOdds=0.941;GDI_full_10282015=.;dpsi_max_tissue=0.0463;dpsi_zscore=0.281;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0025;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1243.05,0,-1487.98:1353:696:626:19018:21883 . . . . . . . . . . . . . . . . . . . . . . chr1 74808631 . C T 13403.60 . AB=0.50471;ABP=3.25574;AC=1;AF=0.5;AN=2;AO=643;CIGAR=1X;DP=1274;DPB=1274;DPRA=0;EPP=9.84892;EPPR=32.9441;GTI=0;LEN=1;MEANALT=3;MQM=40.0062;MQMR=41.0456;NS=1;NUMALT=1;ODDS=3072.77;PAIRED=0.951788;PAIREDR=0.970684;PAO=0;PQA=0;PQR=0;PRO=0;QA=20394;QR=20127;RO=614;RPL=385;RPP=57.4795;RPPR=141.659;RPR=258;RUN=1;SAF=217;SAP=150.525;SAR=426;SF=1;SRF=217;SRP=117.596;SRR=397;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon8:c.C788T:p.P263L,FPGT-TNNI3K:NM_001112808:exon10:c.C1130T:p.P377L,FPGT-TNNI3K:NM_001199327:exon10:c.C1130T:p.P377L;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0024;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0024;1000g2015aug_all=0.00199681;avsnp147=rs34521608;Kaviar_AF=0.0022315;Kaviar_AC=345;Kaviar_AN=154602;ExAC_ALL=0.0025;ExAC_AFR=0.0002;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0019;ExAC_OTH=0.0044;ExAC_SAS=0.0090;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.042;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.943;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.01;FATHMM_pred=T;PROVEAN_score=-1.51;PROVEAN_pred=N;VEST3_score=0.94;CADD_raw=5.184;CADD_phred=25.5;DANN_score=0.998;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.610;MetaSVM_pred=T;MetaLR_score=0.262;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.77;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.608;phastCons20way_mammalian=0.248;SiPhy_29way_logOdds=19.993;GDI_full_10282015=.;dpsi_max_tissue=0.0812;dpsi_zscore=0.422;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0090;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1368.34,0,-1369.98:1274:614:643:20394:20127:614,643 . . . . chr1 74819077 . T G 16801.75 . AB=0;ABP=0;AC=222;AF=1;AN=230;AO=660;CIGAR=1X;DP=83490;DPB=671;DPRA=0;EPP=205.365;EPPR=5.80219;GTI=0;LEN=1;MEANALT=3;MQM=37.9076;MQMR=26.1429;NS=1;NUMALT=1;ODDS=879.735;PAIRED=0.972727;PAIREDR=0.857143;PAO=0;PQA=0;PQR=0;PRO=0;QA=20772;QR=98;RO=7;RPL=497;RPP=370.042;RPPR=5.80219;RPR=163;RUN=1;SAF=233;SAP=126.837;SAR=427;SF=0,1;SRF=5;SRP=5.80219;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.9219;esp6500siv2_ea=0.9423;esp6500siv2_all=0.9219;esp6500siv2_ea=0.9423;1000g2015aug_all=0.939097;avsnp147=rs6424586;Kaviar_AF=0.924555;Kaviar_AC=142938;Kaviar_AN=154602;ExAC_ALL=0.9429;ExAC_AFR=0.8883;ExAC_AMR=0.9297;ExAC_EAS=0.9981;ExAC_FIN=0.9186;ExAC_NFE=0.9439;ExAC_OTH=0.9364;ExAC_SAS=0.9637;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0150;dpsi_zscore=-0.072;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9439;gnomAD_exome_AFR=0.8869;gnomAD_exome_AMR=0.9313;gnomAD_exome_ASJ=0.9684;gnomAD_exome_EAS=0.9980;gnomAD_exome_FIN=0.9262;gnomAD_exome_NFE=0.9427;gnomAD_exome_OTH=0.9471;gnomAD_exome_SAS=0.9648;gnomAD_genome_ALL=0.9271;gnomAD_genome_AFR=0.8820;gnomAD_genome_AMR=0.9351;gnomAD_genome_ASJ=0.9801;gnomAD_genome_EAS=0.9988;gnomAD_genome_FIN=0.9337;gnomAD_genome_NFE=0.9419;gnomAD_genome_OTH=0.9395;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1703.8,-193.674,0:671:7:660:20772:98 0/1:-869.854,0,-1022.61:968:497:467:13967:15705 1/1:-1979.76,-229.418,0:789:6:779:24095:84 1/1:-1164.66,-129.87,0:469:10:459:14165:140 1/1:-2126.17,-239.591,0:839:9:828:25785:157 0/1:-959.059,0,-1055.97:1027:533:489:15335:16573 1/1:-1587.6,-180.923,0:646:10:634:19527:153 1/1:-2205.39,-251.115,0:902:14:883:26888:252 1/1:-1634.42,-183.018,0:660:10:648:19823:200 1/1:-1862.07,-212.846,0:773:16:753:22719:262 1/1:-1821.41,-206.838,0:716:4:709:21935:100 1/1:-1835.79,-203.744,0:719:8:710:22234:148 1/1:-1971.74,-219.721,0:775:8:762:23701:147 1/1:-1419.58,-166.633,0:578:6:569:17472:84 1/1:-1658.67,-184.649,0:671:11:659:20349:211 1/1:-2680.75,-299.754,0:1064:14:1046:32432:254 1/1:-1397.81,-164.654,0:572:7:562:17178:116 1/1:-3958.19,-438.366,0:1547:18:1522:47557:326 1/1:-1924.36,-214.349,0:766:12:747:23301:188 1/1:-1348.06,-158.123,0:543:4:539:16576:82 1/1:-1608.62,-183.85,0:632:5:627:19449:70 1/1:-2369.57,-267.319,0:912:4:906:28457:87 1/1:-1159,-132.324,0:459:7:452:14248:98 1/1:-2480.69,-275.223,0:973:10:956:29805:200 1/1:-2200.86,-251.871,0:873:8:858:26570:119 0/1:-543.142,0,-622.661:622:327:290:8912:9938 1/1:-2030.88,-232.782,0:800:6:790:24495:84 1/1:-2183.14,-237.665,0:837:11:824:26094:176 1/1:-1436.79,-165.79,0:592:9:580:17665:151 1/1:-1429.31,-156.155,0:551:4:545:16993:110 1/1:-1735.95,-198.061,0:690:7:682:21054:111 1/1:-2319.19,-267.96,0:932:9:915:28291:166 0/1:-774.61,0,-899.671:865:452:406:12510:13900 1/1:-811.892,-95.5947,0:336:4:330:10064:56 1/1:-2082.16,-234.482,0:814:7:805:25260:111 1/1:-2388.34,-274.526,0:941:6:931:28635:84 1/1:-953.183,-107.694,0:386:6:379:11666:97 1/1:-2057.17,-231.615,0:826:11:808:25160:167 1/1:-1784.99,-204.588,0:709:7:701:21605:129 1/1:-974.789,-106.867,0:373:3:369:11815:68 1/1:-2331.25,-264.458,0:904:5:896:27946:83 1/1:-1657.89,-184.286,0:661:10:647:20173:179 1/1:-2007.39,-231.035,0:796:5:783:24211:70 1/1:-1975.64,-216.567,0:782:13:768:23913:243 1/1:-2476.34,-283.016,0:978:8:964:29645:130 1/1:-1883.6,-217.438,0:745:7:734:22876:105 1/1:-1937.01,-222.457,0:776:8:766:23406:125 1/1:-1132.81,-128.416,0:440:3:436:13615:42 1/1:-1597.24,-175.732,0:647:12:630:19531:211 1/1:-2457.82,-273.521,0:967:13:948:29892:202 1/1:-2284.28,-259.283,0:903:8:889:27389:138 1/1:-1837.76,-210.088,0:758:14:742:22770:196 1/1:-2448.71,-268.036,0:939:13:925:29289:195 1/1:-2157.2,-250.018,0:868:8:855:25992:130 1/1:-1461.17,-164.706,0:612:12:598:18375:230 1/1:-1691.72,-186.62,0:657:8:647:20219:132 1/1:-2035.73,-231.24,0:798:9:785:24315:170 1/1:-1063.83,-123.838,0:431:4:425:13053:78 0/1:-701.449,0,-537.226:642:287:353:10754:8924 1/1:-1965.42,-223.289,0:779:8:769:23949:125 1/1:-1092.1,-127.801,0:449:5:444:13703:88 1/1:-2388.89,-279.449,0:962:5:948:29393:83 1/1:-1679.13,-184.059,0:687:15:670:20615:283 1/1:-1365.73,-157.43,0:565:10:553:16879:153 1/1:-2406.91,-265.667,0:960:14:942:28872:262 1/1:-1955.14,-220.837,0:767:8:758:23806:130 1/1:-1119.87,-124.696,0:464:11:452:13753:174 1/1:-1954.79,-224.654,0:783:7:774:23902:164 1/1:-1515.21,-173.07,0:611:8:602:18435:130 1/1:-2018.38,-232.594,0:805:7:795:24469:98 1/1:-1870.19,-206.25,0:740:12:726:22560:208 1/1:-2393.3,-272.515,0:926:5:919:28597:70 1/1:-2128.88,-242.22,0:828:6:818:25501:102 1/1:-1317.02,-163.03,0:584:10:570:16370:184 1/1:-1678.59,-188.786,0:654:6:646:20161:84 1/1:-2551.36,-285.989,0:1018:17:1000:31316:276 1/1:-2233.69,-251.631,0:889:11:874:26885:167 1/1:-2143.41,-243.027,0:847:9:834:26117:169 1/1:-1298.12,-144.668,0:525:10:511:15824:158 1/1:-1443.24,-161.335,0:570:6:561:17552:106 1/1:-2246.07,-253.679,0:883:10:870:27049:198 1/1:-2459,-272.137,0:970:14:952:29801:249 1/1:-2178.68,-253.189,0:876:11:863:26267:167 1/1:-1660.95,-185.172,0:656:8:645:20424:147 1/1:-1577.33,-171.755,0:653:17:629:19548:305 1/1:-1693.02,-192.958,0:673:8:663:20750:125 1/1:-1393.38,-160.271,0:561:4:551:16867:96 0/1:-877.221,0,-872.305:878:440:431:13670:13681 1/1:-985.72,-115.447,0:391:2:388:11918:41 1/1:-1966.83,-228.393,0:778:6:769:23945:84 1/1:-2423.41,-270.125,0:976:16:960:29857:277 1/1:-1615.31,-185.528,0:650:4:645:19944:110 1/1:-2068.18,-234.979,0:822:8:809:25121:148 1/1:-1808.92,-208.018,0:726:8:715:22006:147 1/1:-2214.86,-258.21,0:897:8:883:26918:125 . 1/1:-1903.37,-202.391,0:705:9:696:22490:126:9,696 1/1:-1666.7,-176.675,0:621:8:612:19584:112:8,612 1/1:-1895.32,-206.077,0:702:4:697:22515:56:4,697 1/1:-1085.07,-110.766,0:420:9:411:12913:186:9,411 0/1:-619.746,0,-678.71:630:324:304:9671:10172:324,304 1/1:-2006.04,-214.089,0:743:8:734:23717:112:8,734 1/1:-1762.55,-190.618,0:657:7:650:20926:120:7,650 1/1:-1596.1,-169.184,0:595:7:587:19018:120:7,587 1/1:-1716.91,-181.899,0:637:7:630:20172:120:7,630 1/1:-1648.72,-171.37,0:616:8:608:19570:163:8,608 1/1:-2045.54,-215.057,0:755:8:744:24187:148:8,744 1/1:-1401.61,-148.803,0:528:7:521:16753:140:7,521 1/1:-1661.64,-177.899,0:619:5:613:19662:92:5,613 1/1:-1460.46,-148.759,0:552:11:540:17428:272:11,540 1/1:-1673.99,-169.357,0:631:13:617:19918:248:13,617 1/1:-1789.36,-184.076,0:666:11:654:21275:190:11,654 1/1:-1936.99,-208.59,0:741:10:728:23189:160:10,728 1/1:-1509.89,-148.267,0:578:18:559:18118:358:18,559 0/1:-643.842,0,-701.008:631:328:303:9803:10451:328,303 1/1:-1432.41,-148.538,0:538:11:526:17072:154:11,526 chr1 74834656 . ATGTGTGTGGT ATGTGTGGT 6004.65 . AB=0.492556;ABP=3.39826;AC=2;AF=0.5;AN=4;AO=397;CIGAR=1M2D7M;DP=1535;DPB=737.8;DPRA=0;EPP=241.932;EPPR=219.814;GTI=0;LEN=2;MEANALT=38;MQM=39.8539;MQMR=40.8983;NS=1;NUMALT=1;ODDS=1451.25;PAIRED=0.969773;PAIREDR=0.988701;PAO=15;PQA=348;PQR=449;PRO=18;QA=11182;QR=11674;RO=354;RPL=68;RPP=375.612;RPPR=305.323;RPR=329;RUN=1;SAF=317;SAP=310.238;SAR=80;SF=0,1;SRF=285;SRP=289.203;SRR=69;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0016;1000g2015aug_all=.;avsnp147=rs752655066;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.956e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=6.843e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.995e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.706e-05;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=6.472e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-779.282:806:354:397:11182:11674 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-543.782,0,-806.329:729:355:310:8429:11585:355,310 . . . . . chr1 74901733 . TGTCTAC TTTTTTT 31.80 . AB=0.411765;ABP=4.1599;AC=2;AF=0.5;AN=4;AO=7;CIGAR=1M1X1M1X1M2X;DP=26;DPB=18.5714;DPRA=0;EPP=18.2106;EPPR=3.0103;GTI=0;LEN=7;MEANALT=7;MQM=30.5714;MQMR=18.5;NS=1;NUMALT=1;ODDS=7.25639;PAIRED=1;PAIREDR=1;PAO=2;PQA=37;PQR=0;PRO=0;QA=119;QR=119;RO=4;RPL=0;RPP=18.2106;RPPR=3.0103;RPR=7;RUN=1;SAF=0;SAP=18.2106;SAR=7;SF=0;SRF=4;SRP=11.6962;SRR=0;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-9.63611,0,-1.69746:17:4:7:119:119 . . . . . . . 0/1:-4.6559,0,-1.01555:9:3:3:59:87 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74901736 . CTAC TTTT 42.81 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=8;CIGAR=1X1M2X;DP=16;DPB=16;DPRA=0;EPP=20.3821;EPPR=9.52472;GTI=0;LEN=4;MEANALT=6;MQM=25;MQMR=6.33333;NS=1;NUMALT=1;ODDS=9.85778;PAIRED=0.75;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=133;QR=83;RO=3;RPL=0;RPP=20.3821;RPPR=9.52472;RPR=8;RUN=1;SAF=0;SAP=20.3821;SAR=8;SF=0;SRF=3;SRP=9.52472;SRR=0;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 1/1:-8.79663,-1.6241,0:16:3:8:133:83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74901739 . CTTTTTTTTTTTTTTTTTTTTA CTTTTTTTTTTTTTTTTTTTA,TTTTTTTTTTTTTTTTTTTTTA 47.10 . AB=0;ABP=0;AC=10,18;AF=1;AN=28;AO=14;CIGAR=1X;DP=386;DPB=17;DPRA=0;EPP=33.4109;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=25.7857;MQMR=3;NS=1;NUMALT=1;ODDS=12.4837;PAIRED=0.857143;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=239;QR=36;RO=1;RPL=0;RPP=33.4109;RPPR=5.18177;RPR=14;RUN=1;SAF=0;SAP=33.4109;SAR=14;SF=0;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.540335;avsnp147=rs533006110;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;ExAC_ALL=0.1341;ExAC_AFR=0.1487;ExAC_AMR=0.1104;ExAC_EAS=0.0905;ExAC_FIN=0.1891;ExAC_NFE=0.1407;ExAC_OTH=0.1523;ExAC_SAS=0.1092;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2253;gnomAD_exome_AFR=0.1853;gnomAD_exome_AMR=0.2821;gnomAD_exome_ASJ=0.2540;gnomAD_exome_EAS=0.2554;gnomAD_exome_FIN=0.2322;gnomAD_exome_NFE=0.2046;gnomAD_exome_OTH=0.2465;gnomAD_exome_SAS=0.2159;gnomAD_genome_ALL=0.5511;gnomAD_genome_AFR=0.2014;gnomAD_genome_AMR=0.6981;gnomAD_genome_ASJ=0.7396;gnomAD_genome_EAS=0.8215;gnomAD_genome_FIN=0.4255;gnomAD_genome_NFE=0.7326;gnomAD_genome_OTH=0.7128;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1118;dpsi_zscore=-0.484;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR 2/2:.,.,.,.,.,0:17:1:.,14:.,239:36 . . . . 1/1:-9.60124,-5.41854,0,.,.,.:44:0:9,.:130,.:0 . . . . 2/2:-11.9965,.,.,-3.31133,.,0:29:0:.,11:.,147:0 . . . . . 2/2:-9.70213,.,.,-5.00094,.,0:27:1:.,8:.,130:33 . 2/2:.,.,.,.,.,0:26:5:.,20:.,331:132 . . . . . . . . 2/2:.,.,.,.,.,0:30:8:.,21:.,339:216 . . . . . 1/1:-3.7236,-1.50515,0,.,.,.:5:0:2,.:47,.:0 2/2:.,.,.,.,.,0:19:3:.,15:.,234:55 . . 2/2:.,.,.,.,.,0:26:6:.,18:.,283:177 . . . . . . . . . . . 2/2:.,.,.,.,.,0:13:3:.,8:.,166:99 . . . . . . . . . . . . . . 1/1:-5.8292,-4.58826,0,.,.,.:43:2:9,.:103,.:61 1/1:-9.31652,-5.45289,0,.,.,.:36:1:8,.:126,.:34 . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-8.85971,-4.08727,0,.,.,.:34:2:9,.:154,.:64 . . 2/2:-10.1124,.,.,-3.94696,.,0:37:1:.,9:.,120:31 . . . . . . . . . . . . . . . . . . . . . chr1 74901829 . A C 357.16 . AB=0.464286;ABP=3.94093;AC=12;AF=0.5;AN=24;AO=39;CIGAR=1X;DP=802;DPB=84;DPRA=0;EPP=27.5646;EPPR=11.961;GTI=0;LEN=1;MEANALT=3;MQM=27.7179;MQMR=30.9512;NS=1;NUMALT=1;ODDS=90.3034;PAIRED=0.717949;PAIREDR=0.829268;PAO=0;PQA=0;PQR=0;PRO=0;QA=1119;QR=1094;RO=41;RPL=17;RPP=4.40227;RPPR=31.0276;RPR=22;RUN=1;SAF=13;SAP=12.42;SAR=26;SF=0,1;SRF=24;SRP=5.60547;SRR=17;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0967;esp6500siv2_ea=0.06;esp6500siv2_all=0.0967;esp6500siv2_ea=0.06;1000g2015aug_all=0.0776757;avsnp147=rs45589143;Kaviar_AF=0.0636085;Kaviar_AC=9834;Kaviar_AN=154602;ExAC_ALL=0.0655;ExAC_AFR=0.1756;ExAC_AMR=0.0931;ExAC_EAS=0.0002;ExAC_FIN=0.0530;ExAC_NFE=0.0610;ExAC_OTH=0.0628;ExAC_SAS=0.0343;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0130;dpsi_zscore=0.089;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0633;gnomAD_exome_AFR=0.1798;gnomAD_exome_AMR=0.0880;gnomAD_exome_ASJ=0.0453;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0618;gnomAD_exome_OTH=0.0547;gnomAD_exome_SAS=0.0338;gnomAD_genome_ALL=0.0874;gnomAD_genome_AFR=0.1740;gnomAD_genome_AMR=0.0693;gnomAD_genome_ASJ=0.0367;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0458;gnomAD_genome_NFE=0.0600;gnomAD_genome_OTH=0.0608;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-48.5569,0,-59.0282:84:41:39:1119:1094 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-29.5701,0,-51.4:67:41:26:699:1050 . . . . . . 0/1:-76.2358,0,-66.5875:95:49:43:1269:1297 . . 0/1:-68.2616,0,-58.2098:93:45:48:1315:1198 . . 0/1:-41.3361,0,-54.6083:69:38:28:789:1017 . . . . . . . . 0/1:-43.0837,0,-50.4859:64:36:28:784:1023 . . . . . . . . . . 0/1:-54.0326,0,-76.182:88:50:36:1050:1303 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-51.4703,0,-71.8882:81:45:36:1028:1321 . 0/1:-42.8266,0,-77.0694:101:59:41:1073:1625 . . . . . . . . . . . . 0/1:-13.7156,0,-15.7106:17:9:8:248:242:9,8 0/1:-12.1069,0,-18.506:20:11:9:203:287:11,9 . . . . . . . . . . . . 0/1:-21.4048,0,-19.1779:23:10:13:355:317:10,13 . chr1 74902244 . A G 6162.68 . AB=0.448703;ABP=23.2831;AC=12;AF=0.5;AN=24;AO=398;CIGAR=1X;DP=8128;DPB=887;DPRA=0;EPP=47.2036;EPPR=29.6963;GTI=0;LEN=1;MEANALT=3;MQM=39.9146;MQMR=40.6255;NS=1;NUMALT=1;ODDS=1784.17;PAIRED=0.987437;PAIREDR=0.997872;PAO=0;PQA=0;PQR=0;PRO=0;QA=12391;QR=14938;RO=470;RPL=240;RPP=39.6962;RPPR=9.6818;RPR=158;RUN=1;SAF=118;SAP=146.197;SAR=280;SF=0,1;SRF=137;SRP=180.498;SRR=333;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0899;esp6500siv2_ea=0.0619;esp6500siv2_all=0.0899;esp6500siv2_ea=0.0619;1000g2015aug_all=0.0662939;avsnp147=rs41289200;Kaviar_AF=0.0607301;Kaviar_AC=9389;Kaviar_AN=154602;ExAC_ALL=0.0631;ExAC_AFR=0.1447;ExAC_AMR=0.0931;ExAC_EAS=0.0002;ExAC_FIN=0.0534;ExAC_NFE=0.0615;ExAC_OTH=0.0628;ExAC_SAS=0.0341;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9702;dpsi_zscore=1.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0609;gnomAD_exome_AFR=0.1491;gnomAD_exome_AMR=0.0871;gnomAD_exome_ASJ=0.0443;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0538;gnomAD_exome_NFE=0.0616;gnomAD_exome_OTH=0.0534;gnomAD_exome_SAS=0.0341;gnomAD_genome_ALL=0.0815;gnomAD_genome_AFR=0.1464;gnomAD_genome_AMR=0.0730;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0493;gnomAD_genome_NFE=0.0623;gnomAD_genome_OTH=0.0654;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-806.75,0,-1035.3:887:470:398:12391:14938 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-617.625,0,-525.681:566:255:303:9059:8105 . . . . . . 0/1:-763.035,0,-891.164:816:417:385:11668:13280 . . 0/1:-856.851,0,-947.739:865:435:417:12874:14021 . . 0/1:-679.824,0,-887.542:765:412:338:10461:12896 . . . . . . . . 0/1:-371.383,0,-490.049:419:225:185:5703:7068 . . . . . . . . . . 0/1:-406.615,0,-674.005:541:301:220:6513:9695 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-571.647,0,-750.407:641:349:283:8832:10904 . 0/1:-747.356,0,-912.928:803:421:364:11371:13487 . . . . . . . . . . . . 0/1:-555.336,0,-527.605:522:250:261:8192:7847:250,261 0/1:-701.52,0,-819.655:730:379:339:10568:11993:379,339 . . . . . . . . . . . . 0/1:-527.588,0,-671.643:573:305:256:7989:9686:305,256 . chr1 74929170 . T C 6355.82 . AB=0.467337;ABP=10.3868;AC=4;AF=0.5;AN=8;AO=372;CIGAR=1X;DP=2888;DPB=796;DPRA=0;EPP=95.6831;EPPR=128.521;GTI=0;LEN=1;MEANALT=3;MQM=38.9543;MQMR=38.9605;NS=1;NUMALT=1;ODDS=1634.09;PAIRED=0.965054;PAIREDR=0.962963;PAO=0;PQA=0;PQR=0;PRO=0;QA=11444;QR=12637;RO=405;RPL=219;RPP=28.4375;RPPR=39.9468;RPR=153;RUN=1;SAF=136;SAP=61.3832;SAR=236;SF=0;SRF=149;SRP=64.3959;SRR=256;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon21:c.T2057C:p.I686T,FPGT-TNNI3K:NM_001112808:exon23:c.T2399C:p.I800T,FPGT-TNNI3K:NM_001199327:exon23:c.T2399C:p.I800T;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0037;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0037;1000g2015aug_all=0.0209665;avsnp147=rs3737564;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;ExAC_ALL=0.0169;ExAC_AFR=0.0061;ExAC_AMR=0.0302;ExAC_EAS=0.0441;ExAC_FIN=0.0219;ExAC_NFE=0.0060;ExAC_OTH=0.0220;ExAC_SAS=0.0415;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.677;SIFT_pred=T;Polyphen2_HDIV_score=0.763;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.272;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.24;MutationAssessor_pred=M;FATHMM_score=-1.52;FATHMM_pred=D;PROVEAN_score=1.58;PROVEAN_pred=N;VEST3_score=0.732;CADD_raw=4.228;CADD_phred=23.9;DANN_score=0.997;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_pred=D;MetaSVM_score=0.007;MetaSVM_pred=D;MetaLR_score=0.428;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.91;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.002;GDI_full_10282015=.;dpsi_max_tissue=0.8770;dpsi_zscore=1.442;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0170;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0272;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0.0430;gnomAD_exome_FIN=0.0209;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0188;gnomAD_exome_SAS=0.0401;gnomAD_genome_ALL=0.0097;gnomAD_genome_AFR=0.0064;gnomAD_genome_AMR=0.0287;gnomAD_genome_ASJ=0.0067;gnomAD_genome_EAS=0.0359;gnomAD_genome_FIN=0.0200;gnomAD_genome_NFE=0.0046;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-735.544,0,-832.274:796:405:372:11444:12637 . 0/1:-638.314,0,-713.42:702:347:348:10277:10856 . . . . . . . . . . . . . 0/1:-947.972,0,-1019.03:968:480:470:14515:15363 . . . . . . . . . . . 0/1:-315.375,0,-523.47:422:236:179:5304:7475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74954856 . CTTTTTTC CTTTTTTTC 3684.51 . AB=0.369676;ABP=89.6065;AC=5;AF=0.5;AN=10;AO=217;CIGAR=1M1I7M;DP=2906;DPB=628.375;DPRA=0;EPP=9.26454;EPPR=5.55942;GTI=0;LEN=1;MEANALT=47;MQM=40.4562;MQMR=40.6739;NS=1;NUMALT=1;ODDS=737.409;PAIRED=0.990783;PAIREDR=0.967391;PAO=10.5;PQA=242;PQR=242;PRO=10.5;QA=5566;QR=8510;RO=276;RPL=97;RPP=8.30389;RPPR=18.2421;RPR=120;RUN=1;SAF=117;SAP=5.90226;SAR=100;SF=0;SRF=135;SRP=3.29354;SRR=141;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0985;esp6500siv2_ea=0.0168;esp6500siv2_all=0.0985;esp6500siv2_ea=0.0168;1000g2015aug_all=0.081869;avsnp147=rs397897537;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;ExAC_ALL=0.0335;ExAC_AFR=0.2624;ExAC_AMR=0.0198;ExAC_EAS=0;ExAC_FIN=0.0038;ExAC_NFE=0.0137;ExAC_OTH=0.0344;ExAC_SAS=0.0127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0284;gnomAD_exome_AFR=0.2616;gnomAD_exome_AMR=0.0178;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0056;gnomAD_exome_NFE=0.0141;gnomAD_exome_OTH=0.0232;gnomAD_exome_SAS=0.0112;gnomAD_genome_ALL=0.0811;gnomAD_genome_AFR=0.2605;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0184;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-330.471,0,-581.173:587:276:217:5566:8510 . . 0/1:-430.969,0,-509.649:586:254:250:6727:7750 . . . . . . . . 0/1:-285.415,0,-288.831:369:143:166:4415:4469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-366.504,0,-420.55:525:208:223:5746:6399 . . . . 0/1:-477.172,0,-885.446:839:416:298:7995:12686 . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74954952 . A C 3431.79 . AB=0.504323;ABP=3.06662;AC=2;AF=0.5;AN=4;AO=175;CIGAR=1X;DP=727;DPB=347;DPRA=0;EPP=10.7656;EPPR=8.06024;GTI=0;LEN=1;MEANALT=1;MQM=40.6;MQMR=41.064;NS=1;NUMALT=1;ODDS=781.797;PAIRED=0.937143;PAIREDR=0.906977;PAO=0;PQA=0;PQR=0;PRO=0;QA=5499;QR=5245;RO=172;RPL=65;RPP=28.1373;RPPR=54.7216;RPR=110;RUN=1;SAF=75;SAP=10.7656;SAR=100;SF=1;SRF=76;SRP=8.06024;SRR=96;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0091;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0091;1000g2015aug_all=0.00219649;avsnp147=rs142942027;Kaviar_AF=0.005388;Kaviar_AC=833;Kaviar_AN=154602;ExAC_ALL=0.0050;ExAC_AFR=0.0015;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0073;ExAC_OTH=0.0056;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.1641;dpsi_zscore=-2.373;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0050;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0080;gnomAD_exome_OTH=0.0039;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0038;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0061;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-371.238,0,-352.826:347:172:175:5499:5245:172,175 . 0/1:-337.404,0,-465.656:380:213:165:5263:6654:213,165 . . . . . . . . . . . . . . . . . chr1 74954971 . C G 6086.82 . AB=0.445137;ABP=23.9777;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X;DP=802;DPB=802;DPRA=0;EPP=8.85564;EPPR=25.9462;GTI=0;LEN=1;MEANALT=3;MQM=39.6162;MQMR=39.7082;NS=1;NUMALT=1;ODDS=1401.54;PAIRED=0.977591;PAIREDR=0.976471;PAO=0;PQA=0;PQR=0;PRO=0;QA=10101;QR=13202;RO=425;RPL=189;RPP=5.69271;RPPR=7.92038;RPR=168;RUN=1;SAF=93;SAP=180.87;SAR=264;SF=0;SRF=124;SRP=163.081;SRR=301;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000399361;avsnp147=rs200428708;Kaviar_AF=0.0015912;Kaviar_AC=246;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0;ExAC_AMR=8.735e-05;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0029;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0731;dpsi_zscore=0.393;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=6.799e-05;gnomAD_exome_AMR=6.824e-05;gnomAD_exome_ASJ=0.0066;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-636.967,0,-892.188:802:425:357:10101:13202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74957823 . CCTTCTTCTTCTTC CCTTCTTCTTC 3592.78 . AB=0.370213;ABP=140.543;AC=1;AF=0.5;AN=2;AO=348;CIGAR=1M3D10M;DP=940;DPB=866.143;DPRA=0;EPP=3.11014;EPPR=4.59104;GTI=0;LEN=3;MEANALT=107;MQM=36.4598;MQMR=39.0932;NS=1;NUMALT=1;ODDS=827.269;PAIRED=0.916667;PAIREDR=0.901763;PAO=18.5;PQA=452.5;PQR=508.5;PRO=20.5;QA=7209;QR=12252;RO=397;RPL=94;RPP=162.751;RPPR=198.394;RPR=254;RUN=1;SAF=184;SAP=5.50625;SAR=164;SF=0;SRF=225;SRP=18.3747;SRR=172;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TNNI3K:NM_015978:exon23:c.2235_2237del:p.745_746del,FPGT-TNNI3K:NM_001112808:exon25:c.2577_2579del:p.859_860del;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-384.418,0,-797.408:940:397:348:7209:12252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 74957911 . A G 6926.46 . AB=0.444553;ABP=30.4621;AC=1;AF=0.5;AN=2;AO=457;CIGAR=1X;DP=1028;DPB=1028;DPRA=0;EPP=18.4482;EPPR=3.33068;GTI=0;LEN=1;MEANALT=3;MQM=35.8206;MQMR=38.1129;NS=1;NUMALT=1;ODDS=1594.88;PAIRED=0.886214;PAIREDR=0.919854;PAO=0;PQA=0;PQR=0;PRO=0;QA=12707;QR=16768;RO=549;RPL=330;RPP=198.818;RPPR=260.205;RPR=127;RUN=1;SAF=210;SAP=9.51521;SAR=247;SF=0;SRF=222;SRP=46.6177;SRR=327;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon23:c.A2312G:p.Y771C,FPGT-TNNI3K:NM_001112808:exon25:c.A2654G:p.Y885C;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-0.82;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_pred=N;VEST3_score=0.862;CADD_raw=5.878;CADD_phred=27.4;DANN_score=0.998;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.522;MetaSVM_pred=T;MetaLR_score=0.287;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.77;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.960;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=13.143;GDI_full_10282015=.;dpsi_max_tissue=-0.1277;dpsi_zscore=-0.527;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR 0/1:-724.087,0,-1080.37:1028:549:457:12707:16768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 75006027 . A G 11903.05 . AB=0.482255;ABP=5.63057;AC=136;AF=0.5;AN=196;AO=462;CIGAR=1X;DP=82221;DPB=958;DPRA=0;EPP=16.716;EPPR=3.01481;GTI=0;LEN=1;MEANALT=3;MQM=39.8745;MQMR=39.7277;NS=1;NUMALT=1;ODDS=1901.67;PAIRED=0.97619;PAIREDR=0.987526;PAO=0;PQA=0;PQR=0;PRO=0;QA=13125;QR=14970;RO=481;RPL=285;RPP=57.8329;RPPR=25.7679;RPR=177;RUN=1;SAF=295;SAP=80.0177;SAR=167;SF=0,1;SRF=323;SRP=125.917;SRR=158;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.4446;esp6500siv2_ea=0.5560;esp6500siv2_all=0.4446;esp6500siv2_ea=0.5560;1000g2015aug_all=0.324481;avsnp147=rs3895907;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;ExAC_ALL=0.4555;ExAC_AFR=0.2186;ExAC_AMR=0.3397;ExAC_EAS=0.1557;ExAC_FIN=0.4781;ExAC_NFE=0.5609;ExAC_OTH=0.4487;ExAC_SAS=0.4036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0615;dpsi_zscore=-0.314;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4556;gnomAD_exome_AFR=0.2063;gnomAD_exome_AMR=0.3525;gnomAD_exome_ASJ=0.5908;gnomAD_exome_EAS=0.1568;gnomAD_exome_FIN=0.4829;gnomAD_exome_NFE=0.5610;gnomAD_exome_OTH=0.4848;gnomAD_exome_SAS=0.4050;gnomAD_genome_ALL=0.4299;gnomAD_genome_AFR=0.2194;gnomAD_genome_AMR=0.3768;gnomAD_genome_ASJ=0.5629;gnomAD_genome_EAS=0.1785;gnomAD_genome_FIN=0.4808;gnomAD_genome_NFE=0.5629;gnomAD_genome_OTH=0.5071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-847.825,0,-990.453:958:481:462:13125:14970 0/1:-953.428,0,-1127.66:1107:557:523:14721:17079 0/1:-816.258,0,-883.935:891:435:434:12566:13229 . 0/1:-707.638,0,-1021.98:917:498:395:11230:15150 . 1/1:-1856.19,-216.318,0:794:8:761:21599:207 0/1:-922.092,0,-848.641:920:428:473:13966:12962 0/1:-631.305,0,-673.054:674:325:336:9665:10003 . 0/1:-956.137,0,-901.278:947:450:485:14359:13882 0/1:-782.748,0,-840.631:841:410:412:11900:12599 0/1:-816.559,0,-936.894:900:462:419:12500:14076 0/1:-798.208,0,-684.118:817:366:426:12111:10811 1/1:-1797.52,-204.387,0:749:6:716:21111:153 1/1:-2822.71,-308.207,0:1173:13:1120:32967:403 0/1:-567.325,0,-859.017:741:407:315:9120:12371 1/1:-4129.61,-473.88,0:1678:9:1626:47862:230 1/1:-2304.76,-262.727,0:948:5:915:27286:167 . 0/1:-600.907,0,-642.952:656:313:328:9340:9578 0/1:-1111.3,0,-1099.95:1124:540:563:16820:16662 0/1:-519.028,0,-626.036:600:305:273:8087:9334 0/1:-1007.36,0,-1008.91:1039:493:520:15246:15374 1/1:-2333.31,-269.301,0:986:9:948:27447:212 . 1/1:-2195.19,-237.256,0:939:17:895:26178:445 0/1:-880.577,0,-1017.1:991:498:468:13641:15293 0/1:-694.823,0,-686.612:746:342:385:10623:10554 1/1:-1517.56,-165.314,0:636:8:613:17699:257 1/1:-2095.04,-246.228,0:883:4:842:24390:96 1/1:-2777.48,-324.498,0:1165:6:1109:32281:132 . 0/1:-226.055,0,-370.164:301:167:131:3827:5306 1/1:-2278.71,-265.065,0:966:7:920:26531:182 1/1:-2388.75,-277.973,0:1002:7:957:27838:138 1/1:-940.262,-100.707,0:408:8:384:11122:196 0/1:-802.533,0,-1141.18:1013:548:442:12889:16678 1/1:-2034.11,-212.425,0:896:19:845:24061:601 . 0/1:-1055.74,0,-1182.33:1153:580:549:16194:17650 0/1:-605.022,0,-862.87:765:405:342:9602:12666 0/1:-591.732,0,-1029.94:835:477:337:9768:14816 0/1:-857.409,0,-835.024:886:411:458:12921:12778 0/1:-1093.85,0,-1243.24:1189:595:572:16725:18626 0/1:-922.817,0,-1051.8:990:495:476:14054:15634 0/1:-709.119,0,-931.941:854:439:393:11236:13828 1/1:-1202.68,-141.489,0:507:2:488:14077:68 0/1:-972.893,0,-802.044:950:427:505:14732:12824 0/1:-902.312,0,-1018.43:995:491:480:13874:15206 0/1:-855.265,0,-912.262:910:445:451:13077:13781 . 0/1:-1151.08,0,-1032.88:1132:517:591:17200:15794 0/1:-849.13,0,-1001.69:974:490:454:13121:14905 0/1:-523.442,0,-759.719:693:369:301:8471:11306 1/1:-1627.31,-192.818,0:670:1:649:19102:32 0/1:-1041.85,0,-1068.3:1082:518:540:15845:16021 1/1:-1363.98,-148.093,0:606:11:574:16224:330 1/1:-1453.09,-161.69,0:630:12:594:17251:269 0/1:-716.386,0,-850.124:799:412:379:10977:12695 0/1:-651.587,0,-672.791:694:334:341:9958:10198 0/1:-1123.86,0,-1016.91:1109:510:574:16769:15636 1/1:-1767.93,-198.838,0:741:9:713:20740:223 0/1:-723.331,0,-750.543:765:367:377:11042:11503 0/1:-1051.05,0,-1119.86:1141:556:562:16235:16931 1/1:-2455.89,-273.976,0:1042:15:999:28790:367 0/1:-451.089,0,-794.417:671:394:264:7584:11838 1/1:-2324.78,-276.872,0:985:6:948:27402:128 0/1:-569.916,0,-780.688:717:381:324:9191:11520 0/1:-611.508,0,-1134.42:920:545:358:10256:16344 1/1:-1940.64,-226.621,0:829:7:787:22595:164 0/1:-971.176,0,-1217.56:1081:565:497:14896:17741 1/1:-2800.88,-309.459,0:1161:12:1113:32683:340 . 0/1:-703.811,0,-893.756:832:434:383:11032:13185 0/1:-725.812,0,-971.732:873:470:387:11384:14376 0/1:-1009.21,0,-1032.43:1059:501:533:15355:15659 0/1:-1051.58,0,-1070.28:1123:539:564:16140:16315 . 1/1:-1544.99,-159.559,0:671:12:631:18408:388 0/1:-916.117,0,-1082.4:1043:530:482:14174:16211 1/1:-2216.07,-242.933,0:947:15:896:26094:367 0/1:-911.674,0,-1099.09:1061:549:485:14263:16512 1/1:-2151.26,-211.777,0:942:26:892:25718:734 0/1:-769.322,0,-852.955:856:425:410:11970:12918 1/1:-1750.82,-194.872,0:724:6:697:20509:190 . 0/1:-876.109,0,-971.256:961:480:466:13691:14525 1/1:-1470.07,-177.552,0:624:4:599:17184:74 . 0/1:-1091.92,0,-1445.19:1289:683:580:17078:21258 . 1/1:-2581.1,-283.442,0:1071:13:1028:30320:373 0/1:-726.368,0,-967.287:869:458:393:11442:14306 0/1:-923.487,0,-1065.6:1037:513:507:14296:15931 . 1/1:-1501.28,-156.063,0:562:4:549:17440:118:4,549 1/1:-1319.17,-127.458,0:521:12:497:15567:323:12,497 0/1:-777.358,0,-549.555:634:270:356:11156:8541:270,356 . 0/1:-572.29,0,-442.314:478:210:265:8206:6694:210,265 . 0/1:-621.253,0,-526.427:548:249:290:8981:7933:249,290 1/1:-1430.35,-141.358,0:562:9:538:16800:276:9,538 1/1:-1383.86,-140.267,0:532:7:515:16111:190:7,515 . . 1/1:-1260.12,-131.608,0:490:5:473:14688:139:5,473 1/1:-1245.64,-124.17,0:479:8:465:14603:205:8,465 1/1:-1384.14,-150.015,0:520:2:511:16054:50:2,511 1/1:-1376.97,-146.98,0:541:5:527:16098:149:5,527 0/1:-401.844,0,-631.264:488:276:207:6310:8948:276,207 0/1:-662.022,0,-589.727:592:272:311:9730:8756:272,311 0/1:-622.864,0,-513.271:545:241:290:9031:7798:241,290 0/1:-522.829,0,-529.173:489:241:241:7669:7762:241,241 1/1:-979.17,-105.176,0:376:2:366:11415:63:2,366 chr1 75009699 . T C 10012.50 . AB=0.462651;ABP=18.0955;AC=1;AF=0.5;AN=2;AO=576;CIGAR=1X;DP=1245;DPB=1245;DPRA=0;EPP=13.2042;EPPR=22.5468;GTI=0;LEN=1;MEANALT=3;MQM=37.6181;MQMR=39.648;NS=1;NUMALT=1;ODDS=2305.47;PAIRED=0.947917;PAIREDR=0.965732;PAO=0;PQA=0;PQR=0;PRO=0;QA=16485;QR=20142;RO=642;RPL=266;RPP=10.3089;RPPR=3.49736;RPR=310;RUN=1;SAF=274;SAP=5.96592;SAR=302;SF=0;SRF=330;SRP=4.10618;SRR=312;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=NM_001112808:c.*33T>C\x3bNM_015978:c.*33T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0218;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0218;esp6500siv2_ea=0.0003;1000g2015aug_all=0.0443291;avsnp147=rs45520236;Kaviar_AF=0.0023092;Kaviar_AC=357;Kaviar_AN=154602;ExAC_ALL=0.0148;ExAC_AFR=0.1368;ExAC_AMR=0.0065;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0046;ExAC_SAS=0.0138;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0115;gnomAD_exome_AFR=0.1378;gnomAD_exome_AMR=0.0066;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0054;gnomAD_exome_SAS=0.0130;gnomAD_genome_ALL=0.0407;gnomAD_genome_AFR=0.1415;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1012.15,0,-1351.68:1245:642:576:16485:20142 . . . . . . . . . . . . . . . . . . . . . . . . . chr1 78381726 . T A 2116.33 . AB=0.506849;ABP=3.09954;AC=1;AF=0.5;AN=2;AO=111;CIGAR=1X;DP=219;DPB=219;DPRA=0;EPP=11.6375;EPPR=18.7736;GTI=0;LEN=1;MEANALT=1;MQM=40.6757;MQMR=39.1296;NS=1;NUMALT=1;ODDS=422.909;PAIRED=0.981982;PAIREDR=0.916667;PAO=0;PQA=0;PQR=0;PRO=0;QA=3302;QR=3006;RO=108;RPL=43;RPP=15.2371;RPPR=4.2971;RPR=68;RUN=1;SAF=57;SAP=3.18637;SAR=54;SF=0;SRF=58;SRP=4.2971;SRR=50;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3177;dpsi_zscore=0.916;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.266e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-220.376,0,-192.127:219:108:111:3302:3006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 78383301 . T C 6758.77 . AB=0.506667;ABP=3.29983;AC=1;AF=0.5;AN=2;AO=380;CIGAR=1X;DP=750;DPB=750;DPRA=0;EPP=9.61615;EPPR=15.2589;GTI=0;LEN=1;MEANALT=3;MQM=40.1368;MQMR=40.6964;NS=1;NUMALT=1;ODDS=1556.26;PAIRED=0.944737;PAIREDR=0.94429;PAO=0;PQA=0;PQR=0;PRO=0;QA=10599;QR=10802;RO=359;RPL=115;RPP=131.584;RPPR=80.2458;RPR=265;RUN=1;SAF=180;SAP=5.29606;SAR=200;SF=0;SRF=150;SRP=24.0657;SRR=209;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEXN:NM_144573:exon3:c.T78C:p.L26L;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=0.000399361;avsnp147=rs376535223;Kaviar_AF=0.0004463;Kaviar_AC=69;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0026;CLNALLELEID=448242;CLNDN=Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.4290;dpsi_zscore=2.323;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=6.461e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-697.769,0,-714.127:750:359:380:10599:10802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 78390821 . CAAAAAGT CAAAAGT 2612.62 . AB=0.519802;ABP=4.38628;AC=3;AF=0.5;AN=6;AO=210;CIGAR=1M1D5M;DP=885;DPB=378;DPRA=0;EPP=8.96634;EPPR=26.2187;GTI=0;LEN=1;MEANALT=14;MQM=40.8238;MQMR=41.1272;NS=1;NUMALT=1;ODDS=704.465;PAIRED=0.985714;PAIREDR=0.99422;PAO=9.5;PQA=96.5;PQR=96.5;PRO=9.5;QA=5310;QR=5073;RO=173;RPL=131;RPP=30.9706;RPPR=49.7158;RPR=79;RUN=1;SAF=118;SAP=10.0004;SAR=92;SF=0,1;SRF=92;SRP=4.52908;SRR=81;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0218;esp6500siv2_ea=0.0251;esp6500siv2_all=0.0218;esp6500siv2_ea=0.0251;1000g2015aug_all=0.00938498;avsnp147=rs200727461;Kaviar_AF=0.0016905;Kaviar_AC=44;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0103;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0090;gnomAD_genome_NFE=0.0159;gnomAD_genome_OTH=0.0155;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:.,.,-320.99:404:173:210:5310:5073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-327.007:387:167:191:4657:5056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-62.3563,0,-105.478:94:47:39:996:1494:47,39 . . . . . . . . . chr1 78392446 . G A 3663.67 . AB=0.452785;ABP=11.0074;AC=41;AF=0.5;AN=76;AO=187;CIGAR=1X;DP=14045;DPB=413;DPRA=0;EPP=8.13126;EPPR=23.0292;GTI=0;LEN=1;MEANALT=3;MQM=39.4064;MQMR=39.9095;NS=1;NUMALT=1;ODDS=791.512;PAIRED=0.983957;PAIREDR=0.97619;PAO=0;PQA=0;PQR=0;PRO=0;QA=5470;QR=5777;RO=210;RPL=91;RPP=3.3006;RPPR=3.05166;RPR=96;RUN=1;SAF=98;SAP=3.95088;SAR=89;SF=0,1;SRF=115;SRP=7.14644;SRR=95;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.1578;esp6500siv2_ea=0.2073;esp6500siv2_all=0.1578;esp6500siv2_ea=0.2073;1000g2015aug_all=0.150759;avsnp147=rs1166698;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;ExAC_ALL=0.1846;ExAC_AFR=0.0366;ExAC_AMR=0.1428;ExAC_EAS=0.3947;ExAC_FIN=0.1704;ExAC_NFE=0.2142;ExAC_OTH=0.1737;ExAC_SAS=0.0781;CLNALLELEID=57075;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.63;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_pred=N;VEST3_score=0.422;CADD_raw=5.664;CADD_phred=26.7;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.291;MetaSVM_pred=T;MetaLR_score=0.460;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.64;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.925;phastCons20way_mammalian=0.986;SiPhy_29way_logOdds=19.694;GDI_full_10282015=.;dpsi_max_tissue=-0.3300;dpsi_zscore=-0.896;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1816;gnomAD_exome_AFR=0.0340;gnomAD_exome_AMR=0.1407;gnomAD_exome_ASJ=0.2171;gnomAD_exome_EAS=0.3942;gnomAD_exome_FIN=0.1628;gnomAD_exome_NFE=0.2106;gnomAD_exome_OTH=0.1837;gnomAD_exome_SAS=0.0771;gnomAD_genome_ALL=0.1653;gnomAD_genome_AFR=0.0400;gnomAD_genome_AMR=0.1671;gnomAD_genome_ASJ=0.2053;gnomAD_genome_EAS=0.3964;gnomAD_genome_FIN=0.1734;gnomAD_genome_NFE=0.2107;gnomAD_genome_OTH=0.1616;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-351.073,0,-379.665:413:210:187:5470:5777 . . . 0/1:-335.482,0,-316.689:375:182:187:5238:4994 . . . 0/1:-208.702,0,-268.078:279:144:120:3378:4040 . . . 0/1:-277.431,0,-317.918:326:172:148:4386:4845 . . . . . 0/1:-412.469,0,-298.691:411:176:220:6123:4798 . 0/1:-284.072,0,-231.474:286:128:147:4304:3607 0/1:-424.594,0,-311.601:421:186:220:6297:5069 . . 0/1:-412.669,0,-246.762:364:142:211:5990:4009 1/1:-733.852,-86.8905,0:315:3:310:8713:82 . . 0/1:-218.069,0,-216.646:255:127:121:3468:3381 0/1:-316.912,0,-186.167:280:114:156:4663:3111 . 0/1:-388.301,0,-468.79:473:242:213:6091:6988 . . . 0/1:-346.022,0,-321.12:383:175:190:5200:5021 0/1:-354.72,0,-275.842:355:156:187:5297:4383 . . . 0/1:-508.068,0,-407.919:507:226:269:7609:6380 . . 0/1:-398.789,0,-445.35:471:236:215:6224:6667 . 0/1:-444.438,0,-255.345:389:151:219:6368:4222 0/1:-290.586,0,-283.21:336:164:160:4488:4401 . . . . . . . . . 0/1:-321.039,0,-296.678:361:173:179:5071:4656 . . . . 0/1:-445.247,0,-380.729:471:222:236:6729:5966 1/1:-538.092,-49.6684,0:231:7:219:6349:207 . . . 0/1:-220.574,0,-217.047:255:124:119:3397:3411 0/1:-426.935,0,-474.333:509:256:236:6729:7239 . . . . . 1/1:-609.773,-74.0022,0:268:2:263:7174:64 . 0/1:-387.607,0,-429.806:449:232:209:6065:6576 0/1:-317.571,0,-329.437:358:182:168:4908:5000 0/1:-329.318,0,-422.752:436:231:188:5324:6367 . 0/1:-194.512,0,-264.154:269:144:119:3154:3962 . . . . 0/1:-287.23,0,-372.006:387:203:169:4693:5634 . 0/1:-356.117,0,-272.571:353:159:186:5334:4349 0/1:-435.481,0,-373.124:447:208:226:6547:5907 . . . 0/1:-253.456,0,-229.775:281:133:139:3898:3748 0/1:-312.351,0,-436.869:425:233:176:5104:6383 . 0/1:-439.092,0,-260.247:371:143:218:6274:4248 . 0/1:-319.712,0,-277.106:301:140:156:4753:4178:140,156 . . . . . 0/1:-397.388,0,-344.991:380:180:193:5864:5261:180,193 . . . 0/1:-480.748,0,-388.985:439:199:227:7040:5994:199,227 . 0/1:-427.563,0,-395.538:415:196:208:6433:5944:196,208 . . . . . . . chr1 78392503 . A C 3162.11 . AB=0.489744;ABP=3.36664;AC=1;AF=0.5;AN=2;AO=191;CIGAR=1X;DP=390;DPB=390;DPRA=0;EPP=20.3025;EPPR=19.1732;GTI=0;LEN=1;MEANALT=3;MQM=40.1414;MQMR=40.1392;NS=1;NUMALT=1;ODDS=728.102;PAIRED=0.968586;PAIREDR=0.984536;PAO=0;PQA=0;PQR=0;PRO=0;QA=5154;QR=5825;RO=194;RPL=96;RPP=3.02167;RPPR=3.05507;RPR=95;RUN=1;SAF=66;SAP=42.5857;SAR=125;SF=0;SRF=58;SRP=71.1095;SRR=136;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon7:c.A598C:p.K200Q,NEXN:NM_144573:exon8:c.A790C:p.K264Q;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752321632;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=0.822;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.502;Polyphen2_HVAR_pred=P;LRT_score=0.286;LRT_pred=N;MutationTaster_score=0.828;MutationTaster_pred=D;MutationAssessor_score=2.325;MutationAssessor_pred=M;FATHMM_score=-0.04;FATHMM_pred=T;PROVEAN_score=-0.57;PROVEAN_pred=N;VEST3_score=0.222;CADD_raw=2.073;CADD_phred=16.68;DANN_score=0.987;fathmm-MKL_coding_score=0.925;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.538;MetaSVM_pred=T;MetaLR_score=0.272;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.63;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.941;phastCons20way_mammalian=0.984;SiPhy_29way_logOdds=12.581;GDI_full_10282015=.;dpsi_max_tissue=-0.2758;dpsi_zscore=-0.817;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-329.059,0,-386.869:390:194:191:5154:5825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 78392589 . T A 2299.31 . AB=0.469534;ABP=5.2596;AC=1;AF=0.5;AN=2;AO=131;CIGAR=1X;DP=279;DPB=279;DPRA=0;EPP=5.81167;EPPR=3.24827;GTI=0;LEN=1;MEANALT=3;MQM=38.3359;MQMR=40.2534;NS=1;NUMALT=1;ODDS=529.435;PAIRED=0.984733;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3900;QR=4262;RO=146;RPL=71;RPP=5.01601;RPPR=24.4871;RPR=60;RUN=1;SAF=36;SAP=60.7118;SAR=95;SF=0;SRF=37;SRP=80.1124;SRR=109;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;1000g2015aug_all=0.000798722;avsnp147=rs188416492;Kaviar_AF=0.0013583;Kaviar_AC=210;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0003;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0007;CLNALLELEID=57077;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0488;dpsi_zscore=0.293;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0020;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-243.31,0,-287.076:279:146:131:3900:4262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 78395131 . A C 5844.45 . AB=0.496528;ABP=3.07062;AC=2;AF=0.5;AN=4;AO=286;CIGAR=1X;DP=1228;DPB=576;DPRA=0;EPP=56.5834;EPPR=43.613;GTI=0;LEN=1;MEANALT=3;MQM=39.1399;MQMR=39.8877;NS=1;NUMALT=1;ODDS=1189.17;PAIRED=0.982517;PAIREDR=0.961404;PAO=0;PQA=0;PQR=0;PRO=0;QA=8207;QR=8405;RO=285;RPL=182;RPP=49.2034;RPPR=22.8278;RPR=104;RUN=1;SAF=123;SAP=15.1584;SAR=163;SF=0;SRF=126;SRP=11.3076;SRR=159;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon8:c.A803C:p.E268A,NEXN:NM_144573:exon9:c.A995C:p.E332A;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0024;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0024;1000g2015aug_all=0.00319489;avsnp147=rs201763096;Kaviar_AF=0.0036222;Kaviar_AC=560;Kaviar_AN=154602;ExAC_ALL=0.0040;ExAC_AFR=0.0013;ExAC_AMR=0.0015;ExAC_EAS=0.0002;ExAC_FIN=0.0071;ExAC_NFE=0.0028;ExAC_OTH=0.0078;ExAC_SAS=0.0125;CLNALLELEID=57079;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.032;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.114;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.505;MutationAssessor_pred=M;FATHMM_score=-0.02;FATHMM_pred=T;PROVEAN_score=-1.84;PROVEAN_pred=N;VEST3_score=0.263;CADD_raw=3.628;CADD_phred=23.2;DANN_score=0.992;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.439;MetaSVM_pred=T;MetaLR_score=0.303;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.98;phyloP7way_vertebrate=-0.099;phyloP20way_mammalian=0.202;phastCons7way_vertebrate=0.789;phastCons20way_mammalian=0.742;SiPhy_29way_logOdds=13.199;GDI_full_10282015=.;dpsi_max_tissue=-0.0831;dpsi_zscore=-0.395;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM159729#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0031;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0075;gnomAD_exome_NFE=0.0032;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0135;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0054;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-535.2,0,-543.548:576:285:286:8207:8405 . . . 0/1:-671.169,0,-527.388:652:293:354:10116:8437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 78395151 . G A 4964.72 . AB=0.465704;ABP=8.67024;AC=1;AF=0.5;AN=2;AO=258;CIGAR=1X;DP=554;DPB=554;DPRA=0;EPP=9.60888;EPPR=10.7311;GTI=0;LEN=1;MEANALT=3;MQM=39.8798;MQMR=39.2882;NS=1;NUMALT=1;ODDS=1143.17;PAIRED=0.96124;PAIREDR=0.982639;PAO=0;PQA=0;PQR=0;PRO=0;QA=7833;QR=8646;RO=288;RPL=152;RPP=20.8197;RPPR=75.4229;RPR=106;RUN=1;SAF=109;SAP=16.4768;SAR=149;SF=0;SRF=127;SRP=11.7263;SRR=161;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon8:c.G823A:p.E275K,NEXN:NM_144573:exon9:c.G1015A:p.E339K;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.56;MutationAssessor_pred=M;FATHMM_score=-0.19;FATHMM_pred=T;PROVEAN_score=-1.17;PROVEAN_pred=N;VEST3_score=0.549;CADD_raw=3.549;CADD_phred=23.1;DANN_score=0.997;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.585;MetaSVM_pred=T;MetaLR_score=0.293;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.17;phyloP7way_vertebrate=0.630;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.953;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.84;GDI_full_10282015=.;dpsi_max_tissue=-0.0970;dpsi_zscore=-0.440;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-507.999,0,-570.614:554:288:258:7833:8646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 78407911 . C G 4514.00 . AB=0.469799;ABP=6.55169;AC=4;AF=0.5;AN=8;AO=210;CIGAR=1X;DP=2056;DPB=447;DPRA=0;EPP=33.1627;EPPR=31.7922;GTI=0;LEN=1;MEANALT=3;MQM=38.5714;MQMR=39.3273;NS=1;NUMALT=1;ODDS=788.007;PAIRED=0.995238;PAIREDR=0.995455;PAO=0;PQA=0;PQR=0;PRO=0;QA=5690;QR=6594;RO=220;RPL=77;RPP=35.4376;RPPR=33.9637;RPR=133;RUN=1;SAF=83;SAP=23.0292;SAR=127;SF=0,1;SRF=79;SRP=40.9518;SRR=141;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0032;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0032;1000g2015aug_all=0.00119808;avsnp147=rs147422621;Kaviar_AF=0.0027555;Kaviar_AC=426;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0007;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0030;ExAC_OTH=0.0045;ExAC_SAS=0.0056;CLNALLELEID=142215;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1472;dpsi_zscore=0.610;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0058;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0035;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0062;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-357.78,0,-436.057:447:220:210:5690:6594 . . . . . . . . . 0/1:-641.09,0,-695.706:710:343:348:9919:10518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-461.523,0,-450.551:490:232:249:7074:7044 . . . . . . . . . . . 0/1:-390.05,0,-400.728:409:204:195:5881:6157:204,195 . . . . . . . . . . chr1 78408380 . G C 6077.58 . AB=0.462112;ABP=13.0476;AC=1;AF=0.5;AN=2;AO=372;CIGAR=1X;DP=805;DPB=805;DPRA=0;EPP=33.2708;EPPR=10.3143;GTI=0;LEN=1;MEANALT=3;MQM=38.4409;MQMR=39.3808;NS=1;NUMALT=1;ODDS=1399.41;PAIRED=0.978495;PAIREDR=0.985258;PAO=0;PQA=0;PQR=0;PRO=0;QA=10148;QR=11960;RO=407;RPL=253;RPP=107.825;RPPR=162.691;RPR=119;RUN=1;SAF=173;SAP=6.95631;SAR=199;SF=0;SRF=181;SRP=13.8143;SRR=226;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon12:c.G1702C:p.E568Q,NEXN:NM_144573:exon13:c.G1894C:p.E632Q;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs370965740;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=2.499e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.523e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.032;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.78;MutationAssessor_pred=N;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=-0.53;PROVEAN_pred=N;VEST3_score=0.723;CADD_raw=4.254;CADD_phred=23.9;DANN_score=0.998;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.970;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_pred=T;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=5.84;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=20.129;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.68e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=5.809e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.437e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-629.438,0,-788.301:805:407:372:10148:11960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 112319731 . G A 10269.10 . AB=0.487116;ABP=4.74495;AC=1;AF=0.5;AN=2;AO=586;CIGAR=1X;DP=1203;DPB=1203;DPRA=0;EPP=10.8513;EPPR=3.01396;GTI=0;LEN=1;MEANALT=3;MQM=36.1775;MQMR=36.7572;NS=1;NUMALT=1;ODDS=2364.55;PAIRED=0.856655;PAIREDR=0.873524;PAO=0;PQA=0;PQR=0;PRO=0;QA=17559;QR=18595;RO=593;RPL=159;RPP=269.16;RPPR=256.296;RPR=427;RUN=1;SAF=335;SAP=29.1569;SAR=251;SF=0;SRF=327;SRP=16.636;SRR=266;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_172198:exon6:c.C1626T:p.N542N,KCND3:NM_004980:exon7:c.C1683T:p.N561N;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749990612;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.766e-05;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7082;dpsi_zscore=-1.276;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.843e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1065.51,0,-1139.83:1203:593:586:17559:18595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 112321032 . T A 10016.77 . AB=0.516129;ABP=5.60206;AC=30;AF=0.5;AN=50;AO=592;CIGAR=1X;DP=21248;DPB=1147;DPRA=0;EPP=49.022;EPPR=24.7887;GTI=0;LEN=1;MEANALT=3;MQM=35.3057;MQMR=37.5531;NS=1;NUMALT=1;ODDS=2368.89;PAIRED=0.947635;PAIREDR=0.899267;PAO=0;PQA=0;PQR=0;PRO=0;QA=17543;QR=16811;RO=546;RPL=271;RPP=12.1804;RPPR=14.6074;RPR=321;RUN=1;SAF=301;SAP=3.3771;SAR=291;SF=0,1;SRF=268;SRP=3.40801;SRR=278;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.2462;esp6500siv2_ea=0.1974;esp6500siv2_all=0.2462;esp6500siv2_ea=0.1974;1000g2015aug_all=0.192692;avsnp147=rs640029;Kaviar_AF=0.180444;Kaviar_AC=27897;Kaviar_AN=154602;ExAC_ALL=0.1803;ExAC_AFR=0.3437;ExAC_AMR=0.0781;ExAC_EAS=0.0405;ExAC_FIN=0.2158;ExAC_NFE=0.1960;ExAC_OTH=0.1504;ExAC_SAS=0.1471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2579;dpsi_zscore=0.826;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1738;gnomAD_exome_AFR=0.3457;gnomAD_exome_AMR=0.0847;gnomAD_exome_ASJ=0.1344;gnomAD_exome_EAS=0.0411;gnomAD_exome_FIN=0.2241;gnomAD_exome_NFE=0.1992;gnomAD_exome_OTH=0.1639;gnomAD_exome_SAS=0.1462;gnomAD_genome_ALL=0.2354;gnomAD_genome_AFR=0.3395;gnomAD_genome_AMR=0.1277;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0438;gnomAD_genome_FIN=0.2315;gnomAD_genome_NFE=0.2087;gnomAD_genome_OTH=0.1857;Whole_Blood=Whole_Blood::0.201897::0.269792;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1052.4,0,-1040.61:1147:546:592:17543:16811 0/1:-842.135,0,-843.752:922:446:469:13728:13389 . . . . . . . . . 0/1:-715.979,0,-831.272:885:445:420:12044:13545 0/1:-471.198,0,-632.893:636:342:286:8316:10109 . . . . . 0/1:-570.163,0,-562.328:652:306:338:9746:9419 0/1:-540.847,0,-634.624:660:344:306:8963:10013 . 0/1:-465.679,0,-434.308:517:245:267:7749:7373 . . . . . . . . . . . . . . 0/1:-904.4,0,-917.558:1023:499:512:14969:15083 . 1/1:-1397.58,-169.922,0:620:9:599:17534:210 . . . . 0/1:-977.321,0,-1243.46:1225:646:565:16461:19795 . . 0/1:-389.702,0,-478.083:499:259:227:6719:7698 0/1:-657.975,0,-722.032:751:385:360:10842:11577 . 0/1:-981.31,0,-917.621:1077:504:555:16262:15035 . 1/1:-2541.8,-291.996,0:1110:18:1069:31558:433 . . 0/1:-709.849,0,-619.951:765:345:404:11606:10488 . . . . . 0/1:-1007.53,0,-1158.19:1197:620:561:16796:18540 . 0/1:-425.41,0,-456.467:544:271:260:7254:8001 1/1:-2629.15,-306.904,0:1144:24:1108:32570:498 . . . . . . . . . . . . . . 0/1:-450.411,0,-579.577:570:303:261:7637:9214 . . . . . . . . . 1/1:-1958.24,-212.356,0:864:23:829:24468:581 . . 1/1:-2615.45,-284.174,0:1162:31:1106:32408:670 . . . . . . . . 0/1:-868.108,0,-1130.16:970:516:437:13466:16504:516,437 . . . 0/1:-771.759,0,-872.955:835:420:400:12009:13218:420,400 . 0/1:-610.964,0,-746.735:656:348:295:9497:10955:348,295 . . . . . . 0/1:-864.771,0,-858.199:817:403:407:12984:12754:403,407 . chr1 112323335 . G A 9532.58 . AB=0.520833;ABP=7.35324;AC=1;AF=0.5;AN=2;AO=600;CIGAR=1X;DP=1152;DPB=1152;DPRA=0;EPP=15.185;EPPR=9.87662;GTI=0;LEN=1;MEANALT=3;MQM=34.2833;MQMR=33.8676;NS=1;NUMALT=1;ODDS=1941.14;PAIRED=0.925;PAIREDR=0.889328;PAO=0;PQA=0;PQR=0;PRO=0;QA=16466;QR=15464;RO=506;RPL=282;RPP=7.70068;RPPR=13.7389;RPR=318;RUN=1;SAF=349;SAP=37.7683;SAR=251;SF=0;SRF=297;SRP=36.2433;SRR=209;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon4:c.C1348T:p.L450F,KCND3:NM_172198:exon4:c.C1348T:p.L450F;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs150401343;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=190050;CLNDN=Spinocerebellar_ataxia_19|Brugada_syndrome_9|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:C4225340,OMIM:616399|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.278;SIFT_pred=T;Polyphen2_HDIV_score=0.045;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.049;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.965;MutationAssessor_pred=M;FATHMM_score=-2.12;FATHMM_pred=D;PROVEAN_score=-0.5;PROVEAN_pred=N;VEST3_score=0.653;CADD_raw=4.189;CADD_phred=23.8;DANN_score=0.994;fathmm-MKL_coding_score=0.934;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.295;MetaSVM_pred=T;MetaLR_score=0.422;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.26;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.937;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=18.461;GDI_full_10282015=.;dpsi_max_tissue=0.5420;dpsi_zscore=1.174;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM111334#"Brugada_syndrome";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=6.005e-05;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=6.457e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.665e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-968.247,0,-857.824:1152:506:600:16466:15464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 112329550 . TG TT,GG 5531.10 . AB=0;ABP=0;AC=2,0;AF=0;AN=24;AO=58;CIGAR=1X;DP=10304;DPB=1079;DPRA=0;EPP=21.1309;EPPR=116.97;GTI=0;LEN=1;MEANALT=3;MQM=28.8621;MQMR=37.5774;NS=1;NUMALT=1;ODDS=1115.1;PAIRED=0.948276;PAIREDR=0.965278;PAO=0;PQA=0;PQR=0;PRO=0;QA=1128;QR=29844;RO=1008;RPL=39;RPP=17.986;RPPR=698.019;RPR=19;RUN=1;SAF=57;SAP=120.42;SAR=1;SF=1;SRF=799;SRP=752.901;SRR=209;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0611;dpsi_zscore=-0.313;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-2383.72:1079:1008:.,58:.,1128:29844:1008,58 . 0/0:.,.,.,.,.,-2113.51:998:912:.,74:.,1402:26825:912,74 0/0:.,.,.,.,.,-1085.42:538:487:.,43:.,797:13896:487,43 0/0:.,.,.,.,.,-1425.36:744:671:.,65:.,1211:19078:671,65 . 0/0:.,.,.,.,.,-1959.46:886:821:.,53:.,1005:24719:821,53 1/1:-1812.47,-167.068,0,.,.,.:966:63:799,.:23456,.:1249:63,799 . . . 0/0:.,.,.,.,.,-1716.94:758:712:.,38:.,670:21098:712,38 0/0:.,.,.,.,.,-1734.19:807:747:.,52:.,990:21781:747,52 . . 0/0:.,.,.,.,.,-1900.5:879:826:.,46:.,814:23714:826,46 0/0:.,.,.,.,.,-2410.2:1063:994:.,57:.,1059:29719:994,57 0/0:.,.,.,.,.,-1704.66:825:749:.,67:.,1235:21842:749,67 0/0:.,.,.,.,.,-1674.58:761:709:.,40:.,716:20894:709,40 . chr1 112329551 . G T 4902.08 . AB=0.397784;ABP=93.1253;AC=29;AF=0.5;AN=54;AO=395;CIGAR=1X;DP=22996;DPB=993;DPRA=0;EPP=100.254;EPPR=16.8223;GTI=0;LEN=1;MEANALT=3;MQM=31.5646;MQMR=32.4342;NS=1;NUMALT=1;ODDS=1055.36;PAIRED=0.926582;PAIREDR=0.919658;PAO=0;PQA=0;PQR=0;PRO=0;QA=11018;QR=17492;RO=585;RPL=68;RPP=371.781;RPPR=248.179;RPR=327;RUN=1;SAF=306;SAP=261.877;SAR=89;SF=0,1;SRF=465;SRP=444.821;SRR=120;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1417;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1417;1000g2015aug_all=0.192692;avsnp147=rs3738298;Kaviar_AF=0.161634;Kaviar_AC=24989;Kaviar_AN=154602;ExAC_ALL=0.1652;ExAC_AFR=0.1795;ExAC_AMR=0.1117;ExAC_EAS=0.2066;ExAC_FIN=0.2098;ExAC_NFE=0.1492;ExAC_OTH=0.1839;ExAC_SAS=0.2176;CLNALLELEID=249363;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1142;dpsi_zscore=-0.491;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1627;gnomAD_exome_AFR=0.1885;gnomAD_exome_AMR=0.1162;gnomAD_exome_ASJ=0.1501;gnomAD_exome_EAS=0.2034;gnomAD_exome_FIN=0.1988;gnomAD_exome_NFE=0.1469;gnomAD_exome_OTH=0.15;gnomAD_exome_SAS=0.2155;gnomAD_genome_ALL=0.1714;gnomAD_genome_AFR=0.1869;gnomAD_genome_AMR=0.1337;gnomAD_genome_ASJ=0.1291;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.1963;gnomAD_genome_NFE=0.1559;gnomAD_genome_OTH=0.1731;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-551.348,0,-1033.73:993:585:395:11018:17492 . . 0/1:-463.303,0,-746.737:793:436:351:9461:13174 1/1:-1331.47,-134.7,0:724:65:646:18634:1231 . . . . . 0/1:-942.283,0,-1785.28:1737:1023:702:19616:30583 . . . . 0/1:-293.148,0,-383.225:459:246:211:5874:7293 0/1:-608.7,0,-1018.96:1014:564:441:12262:17165 . . . . . 0/1:-479.356,0,-599.152:698:363:330:8894:10801 . . . 0/1:-381.544,0,-704.254:704:400:296:7890:11880 . 0/1:-637.538,0,-969.416:1012:563:436:11986:16616 0/1:-403.623,0,-881.681:823:487:327:8560:14703 . 0/1:-465.485,0,-729.589:805:439:359:9423:13018 . 0/1:-685.621,0,-1010.9:1082:586:483:13375:17768 . . 0/1:-423.775,0,-914.597:828:502:313:8581:15149 . . . . . 0/1:-604.557,0,-1083.65:1045:598:434:12212:17946 . . . 0/1:-578.072,0,-1074.4:1024:591:419:11489:18150 0/1:-264.771,0,-401.23:452:259:186:5341:7663 . . . 0/1:-373,0,-711.6:697:417:277:7568:12492 . . . . . . . . 0/1:-502.057,0,-860.43:869:487:374:10033:14774 0/1:-445.142,0,-803.691:791:453:330:8975:13662 . . . . . . . . . . . . . . . . 0/1:-401.196,0,-780.977:786:449:326:8673:13562 . . . . . . . 0/1:-476.853,0,-1045.17:976:593:371:10042:17592 . . . . 0/1:-736.009,0,-1081.77:1002:552:443:12736:16712:552,443 0/1:-362.29,0,-581.381:538:304:231:6411:9011:304,231 1/1:-1468.29,-130.815,0:748:66:673:19390:1197:66,673 . . . . . . . 0/1:-635.371,0,-850.692:807:434:362:10578:13069:434,362 . . . . 0/1:-642.102,0,-852.176:825:432:382:10846:13255:432,382 0/1:-619.231,0,-759.615:764:397:360:10321:11839:397,360 . chr1 112524680 . C G 11221.58 . AB=0.501679;ABP=3.04676;AC=2;AF=0.5;AN=4;AO=747;CIGAR=1X;DP=2629;DPB=1489;DPRA=0;EPP=10.5712;EPPR=5.57881;GTI=0;LEN=1;MEANALT=3;MQM=33.2383;MQMR=33.0309;NS=1;NUMALT=1;ODDS=2507.19;PAIRED=0.922356;PAIREDR=0.932489;PAO=0;PQA=0;PQR=0;PRO=0;QA=19924;QR=21175;RO=711;RPL=418;RPP=26.036;RPPR=3.69747;RPR=329;RUN=1;SAF=356;SAP=6.57128;SAR=391;SF=0,1;SRF=315;SRP=23.0483;SRR=396;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.G669C:p.S223S,KCND3:NM_172198:exon2:c.G669C:p.S223S;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.0138;esp6500siv2_ea=0.0186;esp6500siv2_all=0.0138;esp6500siv2_ea=0.0186;1000g2015aug_all=0.0081869;avsnp147=rs17215423;Kaviar_AF=0.0141395;Kaviar_AC=2186;Kaviar_AN=154602;ExAC_ALL=0.0140;ExAC_AFR=0.0029;ExAC_AMR=0.0108;ExAC_EAS=0;ExAC_FIN=0.0265;ExAC_NFE=0.0201;ExAC_OTH=0.0135;ExAC_SAS=0.0014;CLNALLELEID=238121;CLNDN=Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0108;dpsi_zscore=-0.043;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0139;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0096;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0250;gnomAD_exome_NFE=0.0214;gnomAD_exome_OTH=0.0141;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0185;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0347;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0256;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1100.75,0,-1160.96:1489:711:747:19924:21175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1295.09,0,-1049.1:1140:507:619:18995:16208:507,619 . . . . . chr1 112524698 . C T 5397.18 . AB=0.39499;ABP=102.429;AC=1;AF=0.5;AN=2;AO=410;CIGAR=1X;DP=1038;DPB=1038;DPRA=0;EPP=71.8407;EPPR=35.421;GTI=0;LEN=1;MEANALT=3;MQM=32.5732;MQMR=33.4628;NS=1;NUMALT=1;ODDS=1242.75;PAIRED=0.929268;PAIREDR=0.927365;PAO=0;PQA=0;PQR=0;PRO=0;QA=11483;QR=17808;RO=592;RPL=160;RPP=45.9101;RPPR=49.022;RPR=250;RUN=1;SAF=226;SAP=12.3529;SAR=184;SF=0;SRF=303;SRP=3.72923;SRR=289;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.G651A:p.P217P,KCND3:NM_172198:exon2:c.G651A:p.P217P;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000798722;avsnp147=rs186974111;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=5.034e-05;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.06e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=497988;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0660;dpsi_zscore=-0.332;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.486e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.402e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.245e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-566.948,0,-1054.87:1038:592:410:11483:17808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 112524708 . T C 4940.74 . AB=0.47561;ABP=6.39992;AC=1;AF=0.5;AN=2;AO=312;CIGAR=1X;DP=656;DPB=656;DPRA=0;EPP=5.26529;EPPR=31.7704;GTI=0;LEN=1;MEANALT=3;MQM=32.1282;MQMR=34.2226;NS=1;NUMALT=1;ODDS=1137.65;PAIRED=0.932692;PAIREDR=0.893417;PAO=0;PQA=0;PQR=0;PRO=0;QA=9202;QR=9312;RO=319;RPL=136;RPP=14.1461;RPPR=33.5675;RPR=176;RUN=1;SAF=151;SAP=3.70628;SAR=161;SF=0;SRF=162;SRP=3.18048;SRR=157;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.A641G:p.K214R,KCND3:NM_172198:exon2:c.A641G:p.K214R;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=0.000199681;avsnp147=rs142744204;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=8.708e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=224176;CLNDN=Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.344;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-4.13;FATHMM_pred=D;PROVEAN_score=-0.89;PROVEAN_pred=N;VEST3_score=0.117;CADD_raw=1.042;CADD_phred=10.90;DANN_score=0.979;fathmm-MKL_coding_score=0.852;fathmm-MKL_coding_pred=D;MetaSVM_score=0.004;MetaSVM_pred=D;MetaLR_score=0.616;MetaLR_pred=D;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.51;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.504;GDI_full_10282015=.;dpsi_max_tissue=-0.1762;dpsi_zscore=-0.638;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.814e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-503.033,0,-533.668:656:319:312:9202:9312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 112524890 . C T 7259.92 . AB=0.454303;ABP=23.4514;AC=1;AF=0.5;AN=2;AO=512;CIGAR=1X;DP=1127;DPB=1127;DPRA=0;EPP=3.07816;EPPR=17.2107;GTI=0;LEN=1;MEANALT=3;MQM=32.5938;MQMR=34.2988;NS=1;NUMALT=1;ODDS=1671.66;PAIRED=0.921875;PAIREDR=0.927944;PAO=0;PQA=0;PQR=0;PRO=0;QA=13847;QR=16059;RO=569;RPL=263;RPP=3.84157;RPPR=5.79238;RPR=249;RUN=1;SAF=223;SAP=21.4848;SAR=289;SF=0;SRF=258;SRP=13.7303;SRR=311;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.G459A:p.S153S,KCND3:NM_172198:exon2:c.G459A:p.S153S;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs755206508;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=7.437e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=497998;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0541;dpsi_zscore=-0.283;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.486e-05;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.468e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-736.556,0,-936.774:1127:569:512:13847:16059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 112524974 . C T 7958.10 . AB=0.445326;ABP=32.4535;AC=1;AF=0.5;AN=2;AO=505;CIGAR=1X;DP=1134;DPB=1134;DPRA=0;EPP=46.874;EPPR=36.9294;GTI=0;LEN=1;MEANALT=3;MQM=34.5881;MQMR=34.9661;NS=1;NUMALT=1;ODDS=1832.42;PAIRED=0.918812;PAIREDR=0.869492;PAO=0;PQA=0;PQR=0;PRO=0;QA=14522;QR=17932;RO=590;RPL=268;RPP=7.14255;RPPR=5.13025;RPR=237;RUN=1;SAF=235;SAP=8.27773;SAR=270;SF=0;SRF=296;SRP=3.02502;SRR=294;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.G375A:p.P125P,KCND3:NM_172198:exon2:c.G375A:p.P125P;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.0210;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0210;esp6500siv2_ea=0.0010;1000g2015aug_all=0.0451278;avsnp147=rs2289723;Kaviar_AF=0.017904;Kaviar_AC=2768;Kaviar_AN=154602;ExAC_ALL=0.0192;ExAC_AFR=0.0597;ExAC_AMR=0.0319;ExAC_EAS=0.1072;ExAC_FIN=0.0023;ExAC_NFE=0.0008;ExAC_OTH=0.0121;ExAC_SAS=0.0199;CLNALLELEID=364337;CLNDN=Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0297;dpsi_zscore=-0.163;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0182;gnomAD_exome_AFR=0.0622;gnomAD_exome_AMR=0.0274;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0.1005;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0119;gnomAD_exome_SAS=0.0208;gnomAD_genome_ALL=0.0227;gnomAD_genome_AFR=0.0577;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0902;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-810.557,0,-1087.5:1134:590:505:14522:17932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 112525085 . G A 8974.89 . AB=0.441743;ABP=32.1063;AC=18;AF=0.5;AN=36;AO=436;CIGAR=1X;DP=21390;DPB=987;DPRA=0;EPP=12.6524;EPPR=3.11654;GTI=0;LEN=1;MEANALT=3;MQM=34.0046;MQMR=35.1937;NS=1;NUMALT=1;ODDS=1552.39;PAIRED=0.880734;PAIREDR=0.902153;PAO=0;PQA=0;PQR=0;PRO=0;QA=12336;QR=15615;RO=511;RPL=187;RPP=22.1551;RPPR=11.6154;RPR=249;RUN=1;SAF=215;SAP=3.1896;SAR=221;SF=0,1;SRF=241;SRP=6.58409;SRR=270;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C264T:p.P88P,KCND3:NM_172198:exon2:c.C264T:p.P88P;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.0953;esp6500siv2_ea=0.1205;esp6500siv2_all=0.0953;esp6500siv2_ea=0.1205;1000g2015aug_all=0.0471246;avsnp147=rs17221819;Kaviar_AF=0.0906068;Kaviar_AC=14008;Kaviar_AN=154602;ExAC_ALL=0.0886;ExAC_AFR=0.0455;ExAC_AMR=0.0394;ExAC_EAS=0.0008;ExAC_FIN=0.0677;ExAC_NFE=0.1233;ExAC_OTH=0.0918;ExAC_SAS=0.0639;CLNALLELEID=134760;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0437;dpsi_zscore=0.269;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0844;gnomAD_exome_AFR=0.0461;gnomAD_exome_AMR=0.0411;gnomAD_exome_ASJ=0.0745;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0663;gnomAD_exome_NFE=0.1253;gnomAD_exome_OTH=0.0856;gnomAD_exome_SAS=0.0653;gnomAD_genome_ALL=0.0818;gnomAD_genome_AFR=0.0451;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0636;gnomAD_genome_NFE=0.1178;gnomAD_genome_OTH=0.0898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-685.526,0,-950.448:987:511:436:12336:15615 . . . . . . . . . . 0/1:-1030.88,0,-1132.98:1269:612:616:17563:18584 0/1:-801.847,0,-1119.52:1172:609:521:14755:18356 0/1:-698.669,0,-980.621:1067:555:473:12982:16552 . . . . . . . . . . . . . . . . . . . . . . 0/1:-1090.4,0,-1405.19:1531:777:700:19861:23466 . . . . . . . . . 0/1:-979.254,0,-1327.62:1404:723:628:17478:21753 . . . . . 0/1:-1229.15,0,-1231.62:1449:681:714:20521:20625 . . . . . . . 0/1:-554.162,0,-643.929:781:376:369:10510:11207 . . 0/1:-634.804,0,-760.538:883:441:407:11278:13021 . . 0/1:-520.794,0,-606.333:707:360:324:9297:10748 . 0/1:-754.669,0,-1171.7:1179:636:506:13981:18896 . 0/1:-890.651,0,-909.867:1145:534:565:15597:16009 . . . . . 0/1:-1076.86,0,-1185.15:1362:648:660:18497:20007 . . . . 0/1:-1032.58,0,-1361.96:1469:747:677:19040:22564 . . . . 0/1:-516.034,0,-925.216:854:486:339:9579:14795 . . . . . . . . . . 0/1:-1239.37,0,-1513.24:1339:707:617:19140:22106:707,617 . . . . . . . . . . . . . . . 0/1:-1273.58,0,-1253.98:1247:600:627:19175:18967:600,627 . 0/1:-1359.86,0,-1755.9:1545:820:702:21289:25650:820,702 chr1 115256406 . T C 432.78 . AB=0.316327;ABP=31.7269;AC=1;AF=0.5;AN=2;AO=31;CIGAR=1X;DP=98;DPB=98;DPRA=0;EPP=3.64073;EPPR=6.30041;GTI=0;LEN=1;MEANALT=2;MQM=40.1935;MQMR=40.7879;NS=1;NUMALT=1;ODDS=99.6505;PAIRED=0.870968;PAIREDR=0.893939;PAO=0;PQA=0;PQR=0;PRO=0;QA=972;QR=2007;RO=66;RPL=8;RPP=18.771;RPPR=55.6521;RPR=23;RUN=1;SAF=18;SAP=4.76149;SAR=13;SF=1;SRF=37;SRP=5.11597;SRR=29;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs373417606;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0412;dpsi_zscore=-0.224;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-53.5062,0,-145.13:98:66:31:972:2007:66,31 . . . . . . . . . . . . . . . . chr1 116243868 . A G 8655.11 . AB=0.503122;ABP=3.10522;AC=20;AF=0.5;AN=40;AO=564;CIGAR=1X;DP=21040;DPB=1121;DPRA=0;EPP=64.1349;EPPR=110.223;GTI=0;LEN=1;MEANALT=3;MQM=37.6312;MQMR=37.7067;NS=1;NUMALT=1;ODDS=2061.09;PAIRED=0.969858;PAIREDR=0.95619;PAO=0;PQA=0;PQR=0;PRO=0;QA=16010;QR=16092;RO=525;RPL=116;RPP=427.387;RPPR=560.103;RPR=448;RUN=1;SAF=405;SAP=236.005;SAR=159;SF=0,1;SRF=380;SRP=231.429;SRR=145;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.T1194C:p.D398D;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.0441;esp6500siv2_ea=0.0614;esp6500siv2_all=0.0441;esp6500siv2_ea=0.0614;1000g2015aug_all=0.0309505;avsnp147=rs28730711;Kaviar_AF=0.0529683;Kaviar_AC=8189;Kaviar_AN=154602;ExAC_ALL=0.0542;ExAC_AFR=0.0104;ExAC_AMR=0.0976;ExAC_EAS=0.0001;ExAC_FIN=0.0463;ExAC_NFE=0.0638;ExAC_OTH=0.0540;ExAC_SAS=0.0442;CLNALLELEID=53327;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0568;gnomAD_exome_AFR=0.0092;gnomAD_exome_AMR=0.1039;gnomAD_exome_ASJ=0.0598;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0458;gnomAD_exome_NFE=0.0631;gnomAD_exome_OTH=0.0623;gnomAD_exome_SAS=0.0445;gnomAD_genome_ALL=0.0474;gnomAD_genome_AFR=0.0112;gnomAD_genome_AMR=0.0911;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0498;gnomAD_genome_NFE=0.0689;gnomAD_genome_OTH=0.0714;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-1023.01,0,-999.243:1121:525:564:16010:16092 . . . 0/1:-756.33,0,-1095.83:981:544:413:12299:16575 . . 0/1:-986.391,0,-962.354:1053:509:518:14975:15226 . . . . 0/1:-658.498,0,-651.503:765:357:387:10606:10671 . . 0/1:-674.249,0,-765.75:790:391:380:10784:11968 . . 0/1:-473.915,0,-460.076:542:248:281:7628:7593 . . . . . . . . . . . . . . . . . . . . . . 0/1:-1092.73,0,-1010.22:1140:524:598:16794:16093 . . . . 0/1:-1026.34,0,-1139.88:1169:575:581:16198:17722 . . 0/1:-1038.41,0,-1295.77:1235:636:572:16404:19754 . . . . . . . 0/1:-1254.07,0,-1325.91:1388:680:682:19618:20633 . . . . . . . 0/1:-906.468,0,-1097.44:1071:537:519:14520:16766 . . . . 0/1:-851.378,0,-919.763:921:454:453:13120:14032 . . . . . . . . . . . . 0/1:-1022.33,0,-1160.52:1196:589:569:16191:17832 . . 0/1:-1193.94,0,-1301.6:1339:670:644:18758:20245 . . . . . . . . . 0/1:-991.658,0,-1051.96:1004:499:489:15073:15896:499,489 . 0/1:-1088.25,0,-1173.56:1077:541:523:16292:17441:541,523 . . 0/1:-981.447,0,-1214.58:1054:552:489:15123:17755:552,489 . . 0/1:-1018.2,0,-1003.26:1007:496:493:15341:15248:496,493 . . . 0/1:-1177.86,0,-1259.95:1198:606:576:17793:19006:606,576 0/1:-1018.09,0,-1016.84:989:491:492:15334:15272:491,492 . . chr1 116243877 . G A 13698.40 . AB=0;ABP=0;AC=95;AF=1;AN=150;AO=908;CIGAR=1X;DP=82403;DPB=941;DPRA=0;EPP=72.1243;EPPR=10.8276;GTI=0;LEN=1;MEANALT=3;MQM=38.0099;MQMR=30.8;NS=1;NUMALT=1;ODDS=1187.9;PAIRED=0.95815;PAIREDR=0.9;PAO=0;PQA=0;PQR=0;PRO=0;QA=27235;QR=263;RO=10;RPL=213;RPP=558.611;RPPR=3.87889;RPR=695;RUN=1;SAF=650;SAP=370.496;SAR=258;SF=0,1;SRF=6;SRP=3.87889;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.C1185T:p.D395D;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.3880;esp6500siv2_ea=0.3573;esp6500siv2_all=0.3880;esp6500siv2_ea=0.3573;1000g2015aug_all=0.425719;avsnp147=rs7413162;Kaviar_AF=0.0005692;Kaviar_AC=88;Kaviar_AN=154602;ExAC_ALL=0.3838;ExAC_AFR=0.4558;ExAC_AMR=0.4505;ExAC_EAS=0.3005;ExAC_FIN=0.4079;ExAC_NFE=0.3619;ExAC_OTH=0.3943;ExAC_SAS=0.4128;CLNALLELEID=53325;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3813;gnomAD_exome_AFR=0.4508;gnomAD_exome_AMR=0.4390;gnomAD_exome_ASJ=0.4048;gnomAD_exome_EAS=0.2922;gnomAD_exome_FIN=0.3947;gnomAD_exome_NFE=0.3548;gnomAD_exome_OTH=0.4042;gnomAD_exome_SAS=0.4085;gnomAD_genome_ALL=0.3862;gnomAD_genome_AFR=0.4462;gnomAD_genome_AMR=0.4400;gnomAD_genome_ASJ=0.3867;gnomAD_genome_EAS=0.2512;gnomAD_genome_FIN=0.3959;gnomAD_genome_NFE=0.3609;gnomAD_genome_OTH=0.3822;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2264.7,-258.567,0:941:10:908:27235:263 0/1:-1370.75,0,-1175.86:1372:621:705:21064:18501 1/1:-2573.05,-285.91,0:1035:8:1006:30811:220 0/1:-573.076,0,-731.889:684:363:310:9208:11024 0/1:-1035.13,0,-1199.58:1211:628:556:16727:18578 0/1:-1295.12,0,-1350.39:1406:690:691:20708:20653 0/1:-862.684,0,-917.313:968:477:467:13859:14129 1/1:-3023.17,-297.94,0:1270:30:1217:36464:914 0/1:-1021.96,0,-903.076:1009:458:530:15643:14183 1/1:-2647.9,-283.066,0:1133:22:1092:32366:622 1/1:-2006.01,-215.383,0:865:16:837:24707:480 0/1:-991.162,0,-1115.28:1109:555:523:15605:16724 . 0/1:-603.084,0,-808.675:806:428:356:10131:12574 0/1:-887.193,0,-794.221:899:414:460:13585:12309 . 0/1:-651.274,0,-745.655:811:406:374:10699:11912 0/1:-2104.61,0,-2365.46:2328:1185:1093:32908:35763 1/1:-2503.64,-279.219,0:1015:10:989:29792:265 . . 0/1:-1211.66,0,-1198.14:1290:625:634:18981:18458 . . . 1/1:-1817.12,-203.809,0:803:14:781:22670:412 . 0/1:-1039.74,0,-1228.23:1165:611:527:16266:18416 . 0/1:-667.016,0,-803.944:773:395:364:10851:12049 1/1:-2189.17,-234.09,0:888:11:865:26419:335 0/1:-1087.57,0,-1324.41:1273:665:585:17279:19770 . 0/1:-930.688,0,-866.083:954:439:497:14618:13385 0/1:-1237.22,0,-1048.39:1199:544:611:18722:16254 0/1:-1125.9,0,-1185.17:1246:613:604:17839:18366 0/1:-1093.01,0,-942.186:1073:493:553:16601:14812 0/1:-1041.18,0,-941.431:1019:480:515:15872:14496 . . . 1/1:-2652.99,-298.972,0:1118:14:1080:31857:359 . 0/1:-989.36,0,-976.794:1042:511:505:15246:15002 1/1:-3193.94,-358.761,0:1308:14:1276:38357:381 0/1:-997.46,0,-1287.58:1220:664:531:16044:19519 . 0/1:-551.709,0,-605.461:607:305:289:8687:9261 0/1:-787.776,0,-900.739:882:450:409:12524:13511 0/1:-1179.41,0,-1280.42:1298:651:620:18657:19269 0/1:-1118.4,0,-1221.17:1233:636:573:17485:18797 1/1:-2296.46,-253.688,0:979:15:948:28062:450 1/1:-3331.08,-372.804,0:1345:13:1312:39791:326 . 0/1:-703.464,0,-674.161:768:368:371:11068:10693 . . . 1/1:-1933.27,-213.648,0:799:14:776:23287:331 . . 0/1:-1316.2,0,-1434.77:1454:737:679:20515:22078 . . 0/1:-1430.79,0,-1278.51:1436:668:740:21981:19854 0/1:-949.461,0,-1257.83:1136:624:487:15121:18638 . . 0/1:-914.872,0,-943.507:996:488:488:14662:14373 . 0/1:-956.204,0,-980.146:1034:504:500:14896:14945 0/1:-1261.09,0,-1389.1:1382:700:651:19595:20974 0/1:-1319.32,0,-1140.89:1290:584:669:20077:17799 . . . . 1/1:-3197.2,-353.261,0:1271:8:1243:37986:275 1/1:-1633.32,-171.884,0:668:11:652:19699:312 0/1:-616.741,0,-590.856:636:304:321:9569:9274 0/1:-1158.79,0,-1305.7:1297:658:608:18308:19814 0/1:-1270.34,0,-1248.06:1338:645:664:19927:19312 1/1:-3059.01,-316.776,0:1297:28:1255:37354:804 . 1/1:-2314.98,-266.168,0:945:5:914:27609:118 0/1:-918.895,0,-946.568:1015:493:497:14517:14672 0/1:-777.507,0,-722.192:795:370:406:12016:11159 . . 0/1:-837.775,0,-1223.18:1080:595:453:13627:17887 . . 0/1:-1299.62,0,-1272.42:1343:653:671:20100:19590 0/1:-1060.34,0,-1238.96:1202:626:554:16951:18844 . . 0/1:-1245.65,0,-1565.21:1389:726:634:19293:22685:726,634 . 0/1:-1379.99,0,-1307.56:1270:609:641:20386:19302:609,641 0/1:-698.683,0,-707.295:689:340:342:10621:10588:340,342 0/1:-1077.44,0,-1086.83:1057:526:514:16193:16374:526,514 0/1:-1218.77,0,-1201.62:1191:581:588:18220:17945:581,588 . 0/1:-1090.43,0,-1383.96:1182:639:528:16663:20043:639,528 0/1:-1148.56,0,-1138.8:1098:541:542:17284:16862:541,542 . 1/1:-3000.9,-307.395,0:1134:12:1114:35292:358:12,1114 0/1:-1011.79,0,-862.766:925:432:482:14850:13288:432,482 0/1:-1059.07,0,-1121.25:1055:533:509:16076:16600:533,509 1/1:-2754.27,-292.027,0:1059:11:1039:32517:282:11,1039 . 0/1:-1169.02,0,-1300.88:1194:619:565:17801:19198:619,565 0/1:-1240.61,0,-1317.84:1249:631:595:18849:19492:631,595 0/1:-1088.89,0,-1075.89:1045:512:515:16321:16091:512,515 0/1:-1039.21,0,-990.114:971:476:483:15410:14770:476,483 1/1:-2913.33,-283.327,0:1136:20:1106:34630:629:20,1106 chr1 116245533 . G A 3902.71 . AB=0.484909;ABP=3.99336;AC=1;AF=0.5;AN=2;AO=241;CIGAR=1X;DP=497;DPB=497;DPRA=0;EPP=11.6692;EPPR=27.9069;GTI=0;LEN=1;MEANALT=3;MQM=37.5394;MQMR=38.3633;NS=1;NUMALT=1;ODDS=898.633;PAIRED=0.979253;PAIREDR=0.967347;PAO=0;PQA=0;PQR=0;PRO=0;QA=6929;QR=7521;RO=245;RPL=50;RPP=182.143;RPPR=210.488;RPR=191;RUN=1;SAF=186;SAP=157.635;SAR=55;SF=0;SRF=191;SRP=169.363;SRR=54;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.0212;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0212;esp6500siv2_ea=0.0008;1000g2015aug_all=0.0175719;avsnp147=rs77775029;Kaviar_AF=0.0060995;Kaviar_AC=943;Kaviar_AN=154602;ExAC_ALL=0.0067;ExAC_AFR=0.0696;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0088;ExAC_SAS=0.0003;CLNALLELEID=53321;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.6006;dpsi_zscore=2.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=0.0668;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0049;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0198;gnomAD_genome_AFR=0.0682;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-433.726,0,-489.421:497:245:241:6929:7521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116245655 . G C 8407.69 . AB=0;ABP=0;AC=50;AF=1;AN=90;AO=690;CIGAR=1X;DP=37676;DPB=709;DPRA=0;EPP=35.7523;EPPR=3.25157;GTI=0;LEN=1;MEANALT=2;MQM=38.5942;MQMR=40;NS=1;NUMALT=1;ODDS=875.98;PAIRED=0.956522;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20099;QR=268;RO=9;RPL=497;RPP=293.849;RPPR=3.25157;RPR=193;RUN=1;SAF=313;SAP=15.9007;SAR=377;SF=0,1;SRF=6;SRP=5.18177;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.1829;esp6500siv2_ea=0.2029;esp6500siv2_all=0.1829;esp6500siv2_ea=0.2029;1000g2015aug_all=0.216054;avsnp147=rs12402684;Kaviar_AF=0.196233;Kaviar_AC=30338;Kaviar_AN=154602;ExAC_ALL=0.2328;ExAC_AFR=0.1534;ExAC_AMR=0.2942;ExAC_EAS=0.1705;ExAC_FIN=0.2458;ExAC_NFE=0.2308;ExAC_OTH=0.2211;ExAC_SAS=0.2812;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2833;dpsi_zscore=0.866;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2167;gnomAD_exome_AFR=0.1432;gnomAD_exome_AMR=0.2479;gnomAD_exome_ASJ=0.2079;gnomAD_exome_EAS=0.1460;gnomAD_exome_FIN=0.2163;gnomAD_exome_NFE=0.2144;gnomAD_exome_OTH=0.2413;gnomAD_exome_SAS=0.2629;gnomAD_genome_ALL=0.1927;gnomAD_genome_AFR=0.1409;gnomAD_genome_AMR=0.2494;gnomAD_genome_ASJ=0.2020;gnomAD_genome_EAS=0.1278;gnomAD_genome_FIN=0.2112;gnomAD_genome_NFE=0.2207;gnomAD_genome_OTH=0.2138;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1681.18,-186.728,0:709:9:690:20099:268 . . . . 0/1:-947.949,0,-952.641:1044:505:515:14957:15196 0/1:-635.837,0,-694.212:759:376:364:10318:11114 0/1:-832.252,0,-874.357:909:448:443:13105:13732 0/1:-689.225,0,-689.332:773:365:383:11019:10817 1/1:-2074.55,-233.748,0:919:18:884:25635:484 0/1:-734.315,0,-656.872:743:354:378:11399:10442 0/1:-723.571,0,-795.707:807:399:394:11440:12141 . . . . 0/1:-518.512,0,-599.722:655:338:304:8601:9833 . 0/1:-624.039,0,-803.564:796:409:368:10285:12405 . . . . . . . . . . 0/1:-557.392,0,-599.223:619:306:305:8935:9116 1/1:-1674.36,-202.958,0:715:5:698:20312:105 . . 0/1:-618.237,0,-671.939:710:358:335:9746:10627 . 0/1:-730.011,0,-910.994:902:469:416:11784:13920 0/1:-742.694,0,-721.598:816:397:403:11620:11856 0/1:-775.936,0,-918.973:910:473:420:12572:14297 . . . . . 0/1:-661.828,0,-708.869:765:371:374:10734:11025 0/1:-1103.94,0,-1036.75:1175:558:589:17328:16342 0/1:-762.589,0,-948.63:934:481:436:12556:14469 . 0/1:-385.905,0,-425.571:442:225:206:6257:6503 0/1:-612.767,0,-646.187:695:339:333:9662:10055 0/1:-887.133,0,-1096.29:1053:561:479:14175:16693 . 0/1:-532.645,0,-725.753:738:385:335:9252:11466 1/1:-2574.86,-306.013,0:1116:10:1087:31031:278 . 0/1:-448.795,0,-585.33:596:308:279:7713:9335 . . . 1/1:-1490.03,-157.227,0:665:19:639:18432:473 . . 0/1:-912.555,0,-1075.55:1100:552:524:14775:16717 . . . 0/1:-814.971,0,-909.402:912:469:433:12776:14159 . . 0/1:-671.779,0,-596.715:728:324:382:10758:9550 . 0/1:-642.491,0,-794.932:783:414:352:10250:12372 0/1:-861.098,0,-1130.24:1072:557:487:14053:17048 . . . . . . . . . 0/1:-822.429,0,-1035.1:1036:534:474:13690:16259 . . 0/1:-610.215,0,-599.333:667:312:340:9730:9513 . 0/1:-490.421,0,-683.135:658:354:289:8320:10637 . . . . . . 0/1:-754.852,0,-945.407:913:474:418:12095:14436 . . . . 0/1:-1221.74,0,-1329.84:1250:632:602:18589:19668:632,602 0/1:-534.571,0,-495.375:492:233:253:7870:7407:233,253 0/1:-780.556,0,-771.432:755:365:380:11708:11491:365,380 0/1:-1084.29,0,-1181.34:1108:556:535:16228:17294:556,535 . . . . 0/1:-966.849,0,-1176.11:1029:543:474:14731:17096:543,474 . 0/1:-689.46,0,-824.365:733:386:337:10485:12104:386,337 0/1:-769.257,0,-1019.52:849:464:375:12017:14686:464,375 . 0/1:-894.273,0,-882.141:870:423:435:13247:13175:423,435 . 0/1:-706.64,0,-896.86:774:407:344:10806:13059:407,344 . 0/1:-1009.28,0,-996.632:982:476:490:14986:14773:476,490 chr1 116245680 . C T 2927.47 . AB=0.481108;ABP=4.24098;AC=1;AF=0.5;AN=2;AO=191;CIGAR=1X;DP=397;DPB=397;DPRA=0;EPP=13.9359;EPPR=7.44188;GTI=0;LEN=1;MEANALT=3;MQM=36.4503;MQMR=36.8265;NS=1;NUMALT=1;ODDS=674.074;PAIRED=0.91623;PAIREDR=0.933673;PAO=0;PQA=0;PQR=0;PRO=0;QA=5254;QR=5694;RO=196;RPL=145;RPP=114.438;RPPR=67.0023;RPR=46;RUN=1;SAF=77;SAP=18.5744;SAR=114;SF=0;SRF=82;SRP=14.3551;SRR=114;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1026;dpsi_zscore=0.491;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-314.157,0,-350.53:397:196:191:5254:5694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116247790 . G A 2841.29 . AB=0;ABP=0;AC=82;AF=1;AN=136;AO=194;CIGAR=1X;DP=21068;DPB=211;DPRA=0;EPP=11.7857;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=36.3969;MQMR=19;NS=1;NUMALT=1;ODDS=250.928;PAIRED=0.979381;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=5130;QR=113;RO=4;RPL=94;RPP=3.41325;RPPR=3.0103;RPR=100;RUN=1;SAF=177;SAP=289.555;SAR=17;SF=0,1;SRF=3;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.4012;esp6500siv2_ea=0.3197;esp6500siv2_all=0.4012;esp6500siv2_ea=0.3197;1000g2015aug_all=0.428714;avsnp147=rs3811003;Kaviar_AF=0.342441;Kaviar_AC=52942;Kaviar_AN=154602;ExAC_ALL=0.3486;ExAC_AFR=0.5646;ExAC_AMR=0.3729;ExAC_EAS=0.5152;ExAC_FIN=0.2995;ExAC_NFE=0.3086;ExAC_OTH=0.3341;ExAC_SAS=0.2909;CLNALLELEID=249368;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0021;dpsi_zscore=0.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3449;gnomAD_exome_AFR=0.5697;gnomAD_exome_AMR=0.3650;gnomAD_exome_ASJ=0.2832;gnomAD_exome_EAS=0.5200;gnomAD_exome_FIN=0.2972;gnomAD_exome_NFE=0.3113;gnomAD_exome_OTH=0.3276;gnomAD_exome_SAS=0.2921;gnomAD_genome_ALL=0.3834;gnomAD_genome_AFR=0.5621;gnomAD_genome_AMR=0.3717;gnomAD_genome_ASJ=0.2781;gnomAD_genome_EAS=0.5173;gnomAD_genome_FIN=0.2987;gnomAD_genome_NFE=0.2918;gnomAD_genome_OTH=0.3184;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-417.101,-53.5357,0:211:4:194:5130:113 0/1:-244.946,0,-283.294:346:160:161:4204:4688 . . . . . 0/1:-229.172,0,-275.013:317:154:148:3920:4476 . . . 1/1:-513.245,-51.5505,0:258:10:232:6562:251 . . 0/1:-514.314,0,-696.437:712:367:316:8593:10763 0/1:-195.281,0,-315.528:304:162:135:3462:4827 0/1:-136.103,0,-179.482:208:104:91:2399:2985 . 0/1:-323.593,0,-303.444:380:164:192:5130:4935 0/1:-135.125,0,-164.194:183:86:87:2262:2636 . 0/1:-294.984,0,-371.586:405:202:183:4901:6019 1/1:-439.527,-54.9389,0:242:5:210:5706:136 1/1:-671.243,-71.0929,0:349:12:319:8575:329 0/1:-296.81,0,-317.52:374:178:178:4817:5207 0/1:-157.075,0,-227.417:243:128:103:2778:3676 . . 0/1:-262.532,0,-440.688:409:222:176:4647:6802 . 0/1:-236.046,0,-268.279:335:154:161:4173:4338 0/1:-226.306,0,-258.147:289:141:135:3766:4139 . . . . . 0/1:-242.969,0,-352.095:363:196:148:4217:5725 1/1:-645.375,-70.1528,0:320:9:292:8013:264 . . 0/1:-329.005,0,-329.874:372:181:183:5264:5308 . 0/1:-261.358,0,-313.652:349:169:161:4363:4986 . . 0/1:-260.623,0,-366.503:377:189:165:4446:5738 0/1:-217.78,0,-409.263:369:214:139:3938:6327 0/1:-224.879,0,-185.277:274:116:143:3685:3319 . 0/1:-345.125,0,-354.202:425:192:214:5640:5758 0/1:-228.677,0,-224.414:270:126:126:3581:3691 0/1:-191.791,0,-243.033:261:129:116:3163:3736 . 0/1:-89.4269,0,-177.872:185:101:69:1808:2811 . 0/1:-274.13,0,-352.487:394:194:178:4586:5526 0/1:-121.126,0,-155.41:186:93:80:2097:2526 . . 1/1:-413.327,-53.3078,0:223:5:201:5303:114 1/1:-748.391,-88.8063,0:363:7:336:9300:171 . . 0/1:-213.234,0,-332.94:330:179:139:3652:5171 . 0/1:-228.15,0,-355.912:369:196:149:3990:5721 0/1:-245.717,0,-337.865:362:189:157:4189:5422 0/1:-331.519,0,-450.168:458:232:203:5503:7010 1/1:-761.415,-86.955,0:391:11:355:9367:264 . . 0/1:-288.948,0,-458.149:434:233:179:4833:7121 . 1/1:-767.522,-92.5344,0:375:6:350:9450:181 . 0/1:-123.822,0,-180.455:172:88:77:2173:2692 0/1:-260.005,0,-395.416:379:197:168:4387:6070 0/1:-257.355,0,-439.663:412:220:174:4490:6624 1/1:-834.196,-102.138,0:399:6:375:10362:150 0/1:-239.196,0,-240.031:280:133:135:3789:3926 0/1:-190.279,0,-263.472:284:146:125:3336:4129 1/1:-651.954,-77.9115,0:330:7:305:8060:182 0/1:-199.976,0,-255.422:266:134:121:3372:3917 0/1:-263.552,0,-290.027:329:157:161:4285:4687 0/1:-162.634,0,-187.594:213:104:100:2701:3014 1/1:-518.243,-58.234,0:262:8:239:6481:182 . 0/1:-232.932,0,-286.628:314:156:147:3845:4593 1/1:-791.98,-92.1277,0:368:6:345:9577:153 0/1:-276.791,0,-318.193:351:176:159:4471:5107 0/1:-302.197,0,-378.304:405:207:185:4984:5983 . 0/1:-258.787,0,-288.992:287:138:135:3885:4363:138,135 0/1:-240.617,0,-239.236:243:112:124:3586:3580:112,124 0/1:-246.493,0,-273.969:264:128:127:3754:4109:128,127 0/1:-160.381,0,-164.168:166:77:83:2370:2472:77,83 . . . 0/1:-223.532,0,-305.023:268:140:123:3504:4463:140,123 1/1:-479.405,-50.8929,0:205:4:192:5581:91:4,192 0/1:-235.149,0,-202.913:218:101:115:3479:3163:101,115 . 0/1:-170.697,0,-243.721:208:111:90:2671:3533:111,90 . 0/1:-207.71,0,-194.797:208:100:107:3134:2959:100,107 0/1:-190.778,0,-238.345:209:109:93:3018:3487:109,93 0/1:-212.45,0,-292.346:256:138:114:3301:4223:138,114 0/1:-277.259,0,-302.933:306:150:149:4289:4661:150,149 . 0/1:-169.892,0,-232.771:203:111:91:2644:3447:111,91 0/1:-224.199,0,-235.466:248:116:123:3482:3550:116,123 chr1 116247824 . C T 12364.80 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=607;CIGAR=1X;DP=669;DPB=669;DPRA=0;EPP=78.2248;EPPR=6.20364;GTI=0;LEN=1;MEANALT=3;MQM=36.6771;MQMR=36;NS=1;NUMALT=1;ODDS=719.735;PAIRED=0.952224;PAIREDR=0.941176;PAO=0;PQA=0;PQR=0;PRO=0;QA=15945;QR=435;RO=17;RPL=154;RPP=322.832;RPPR=24.5973;RPR=453;RUN=1;SAF=385;SAP=98.0578;SAR=222;SF=0;SRF=8;SRP=3.13803;SRR=9;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon9:c.G928A:p.D310N;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs141314684;Kaviar_AF=0.0005175;Kaviar_AC=80;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0022;ExAC_SAS=0.0011;CLNALLELEID=172473;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.485;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.235;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=-1.33;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_pred=D;VEST3_score=0.061;CADD_raw=4.702;CADD_phred=24.6;DANN_score=0.999;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.397;MetaSVM_pred=T;MetaLR_score=0.335;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.745;SiPhy_29way_logOdds=19.172;GDI_full_10282015=.;dpsi_max_tissue=-0.0061;dpsi_zscore=-0.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0047;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=9.684e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1286.76,-150.865,0:669:17:607:15945:435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116247826 . T C 4963.26 . AB=0.454006;ABP=15.3948;AC=1;AF=0.5;AN=2;AO=306;CIGAR=1X;DP=674;DPB=674;DPRA=0;EPP=63.0735;EPPR=44.2023;GTI=0;LEN=1;MEANALT=3;MQM=37.9804;MQMR=38.3769;NS=1;NUMALT=1;ODDS=1142.83;PAIRED=0.960784;PAIREDR=0.924012;PAO=0;PQA=0;PQR=0;PRO=0;QA=8590;QR=9275;RO=329;RPL=73;RPP=184.676;RPPR=161.581;RPR=233;RUN=1;SAF=180;SAP=23.7032;SAR=126;SF=0;SRF=210;SRP=57.6667;SRR=119;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon9:c.A926G:p.D309G;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs72703607;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=8.239e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=276521;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.911;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.795;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.52;MutationAssessor_pred=M;FATHMM_score=-1.2;FATHMM_pred=T;PROVEAN_score=-5.74;PROVEAN_pred=D;VEST3_score=0.72;CADD_raw=5.950;CADD_phred=27.6;DANN_score=0.997;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=0.124;MetaSVM_pred=D;MetaLR_score=0.522;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.975;phastCons20way_mammalian=0.349;SiPhy_29way_logOdds=15.414;GDI_full_10282015=.;dpsi_max_tissue=-0.0169;dpsi_zscore=-0.084;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.961e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-531.215,0,-588.518:674:329:306:8590:9275 . . . . . . . . . . . . . . . . . . . . . . . chr1 116260532 . A T 20260.29 . AB=0;ABP=0;AC=137;AF=1;AN=194;AO=1140;CIGAR=1X;DP=140126;DPB=1192;DPRA=0;EPP=167.654;EPPR=28.7251;GTI=0;LEN=1;MEANALT=3;MQM=35.8728;MQMR=30.9474;NS=1;NUMALT=1;ODDS=1459.21;PAIRED=0.971053;PAIREDR=0.947368;PAO=0;PQA=0;PQR=0;PRO=0;QA=32433;QR=368;RO=19;RPL=497;RPP=43.613;RPPR=4.03889;RPR=643;RUN=1;SAF=430;SAP=152.347;SAR=710;SF=0,1;SRF=10;SRP=3.12459;SRR=9;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.5993;esp6500siv2_ea=0.5505;esp6500siv2_all=0.5993;esp6500siv2_ea=0.5505;1000g2015aug_all=0.642772;avsnp147=rs2997741;Kaviar_AF=0.573414;Kaviar_AC=88651;Kaviar_AN=154602;ExAC_ALL=0.5802;ExAC_AFR=0.6901;ExAC_AMR=0.6426;ExAC_EAS=0.6451;ExAC_FIN=0.5576;ExAC_NFE=0.5441;ExAC_OTH=0.5716;ExAC_SAS=0.5885;CLNALLELEID=249369;CLNDN=Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1304;dpsi_zscore=0.568;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5799;gnomAD_exome_AFR=0.6970;gnomAD_exome_AMR=0.6256;gnomAD_exome_ASJ=0.5373;gnomAD_exome_EAS=0.6413;gnomAD_exome_FIN=0.5538;gnomAD_exome_NFE=0.5478;gnomAD_exome_OTH=0.5909;gnomAD_exome_SAS=0.5843;gnomAD_genome_ALL=0.5863;gnomAD_genome_AFR=0.6866;gnomAD_genome_AMR=0.6283;gnomAD_genome_ASJ=0.5199;gnomAD_genome_EAS=0.6180;gnomAD_genome_FIN=0.5472;gnomAD_genome_NFE=0.5345;gnomAD_genome_OTH=0.5544;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2612.29,-319.516,0:1192:19:1140:32433:368 . . 1/1:-2088.59,-250.125,0:921:9:871:25396:166 0/1:-1323.32,0,-1392.16:1541:749:754:21435:21950 1/1:-4103.36,-470.993,0:1800:34:1719:49837:684 0/1:-1106.9,0,-1267.02:1357:665:643:18299:19877 0/1:-1240.1,0,-1650.46:1654:855:751:21140:25447 0/1:-1029.14,0,-1156.1:1237:597:597:17021:17878 1/1:-3654,-432.498,0:1606:26:1537:44741:502 1/1:-2679.36,-310.529,0:1209:22:1145:33130:505 0/1:-1188.28,0,-1604.05:1530:818:675:19473:24205 . . 1/1:-2596.99,-290.546,0:1149:22:1091:31228:511 . 0/1:-793.474,0,-966.039:1053:524:497:13506:15372 0/1:-2167.26,0,-2994.17:2867:1497:1281:36307:44779 1/1:-3114.97,-367.862,0:1351:16:1288:37887:290 0/1:-927.318,0,-994.535:1084:524:529:15206:15816 . 0/1:-1451.2,0,-1544.43:1643:796:806:23205:23923 0/1:-687.031,0,-930.63:928:487:417:11859:14319 . 0/1:-1531.76,0,-1374.53:1622:729:838:24019:21887 1/1:-2115.96,-274.607,0:1001:9:953:26720:201 1/1:-3084.66,-328.596,0:1407:44:1315:37663:978 0/1:-1206.97,0,-1368.47:1459:707:693:19613:21157 0/1:-899.009,0,-1036.34:1128:542:531:14816:16408 0/1:-828.384,0,-1104.51:1121:579:496:14075:16968 1/1:-2619.39,-301.349,0:1181:26:1121:32251:536 0/1:-1648.42,0,-1888.56:1981:974:961:27161:29217 . 1/1:-2324.01,-257.704,0:1105:34:1022:28812:704 0/1:-1170.6,0,-1778.5:1577:863:677:19258:26439 0/1:-1518.88,0,-1648.62:1794:869:876:24920:25835 0/1:-1146.52,0,-1341.81:1438:723:673:19076:20879 0/1:-1413.29,0,-1392.53:1577:740:795:22800:22074 . . 0/1:-1459.39,0,-1665.76:1740:844:843:23496:25717 1/1:-3115.11,-359.534,0:1378:22:1306:37557:497 . 0/1:-1191.08,0,-1336.02:1449:702:695:19303:20907 1/1:-4074.42,-479.145,0:1801:28:1713:49638:535 0/1:-1319.9,0,-1425.37:1525:730:750:21468:22106 0/1:-1191.72,0,-1399.66:1464:725:686:19485:21681 0/1:-691.4,0,-659.804:768:356:389:11018:10486 0/1:-1130.64,0,-1147.96:1269:592:645:18336:17831 1/1:-4079.94,-488.007,0:1798:25:1715:49492:446 0/1:-1267.27,0,-1568.44:1580:800:740:21091:23972 1/1:-3004.68,-361.544,0:1378:24:1306:37439:477 1/1:-3959.7,-452.272,0:1764:31:1664:48111:696 0/1:-1281.26,0,-1730.04:1656:865:728:21123:26322 1/1:-2083.91,-235.868,0:989:27:923:26221:616 0/1:-1022.77,0,-1122.57:1195:581:577:16424:17286 . 0/1:-554.332,0,-793.88:790:419:336:9497:12485 1/1:-2313.25,-279.62,0:1057:17:1006:28078:339 0/1:-1164.49,0,-1319.51:1419:700:669:18688:20405 0/1:-663.063,0,-897.997:911:480:392:11236:14100 0/1:-1558.52,0,-1819.52:1886:936:897:25505:27882 0/1:-1081.44,0,-1168.24:1260:613:611:17224:18049 1/1:-1965.09,-244.244,0:899:14:853:23944:227 1/1:-4121.28,-463.381,0:1860:44:1758:50835:977 0/1:-1182.4,0,-1598.85:1555:825:686:19644:24244 . 0/1:-1261.72,0,-1431.72:1488:740:707:20154:22055 0/1:-1117.18,0,-1064:1243:580:625:17784:16980 0/1:-1199.07,0,-1449.85:1529:776:698:19870:22590 1/1:-3194.16,-378.61,0:1432:24:1349:38938:438 1/1:-4108.32,-483.305,0:1796:28:1715:49603:546 1/1:-3862.26,-455.045,0:1716:26:1644:47175:584 . . 1/1:-3924.91,-452.196,0:1783:36:1679:47965:813 . 1/1:-3665.48,-438.819,0:1628:26:1552:44673:448 . 0/1:-992.413,0,-848.648:1021:453:540:15767:13509 0/1:-1284.68,0,-1495.63:1593:794:734:21421:23322 1/1:-3845.63,-460.279,0:1725:23:1639:47034:489 1/1:-3711.82,-431.479,0:1657:27:1573:45072:594 0/1:-1169.77,0,-1222.16:1360:658:659:18679:19134 1/1:-2738.68,-334.392,0:1289:21:1212:34108:443 1/1:-2844.99,-329.837,0:1337:28:1251:34777:638 1/1:-2384.05,-278.048,0:1062:19:1004:29112:405 0/1:-1374.15,0,-1475.58:1558:760:748:21925:22862 0/1:-736.647,0,-803.424:883:426:433:12047:12848 1/1:-3133.89,-362.777,0:1413:25:1342:38120:613 0/1:-1954.36,0,-1771.29:2047:928:1051:30193:28178 1/1:-2787.03,-333.627,0:1234:15:1178:33843:342 1/1:-3646.44,-425.32,0:1622:26:1544:44147:585 0/1:-1488.53,0,-1503.67:1660:793:818:23631:23447 0/1:-1425.78,0,-1468.4:1621:782:800:23179:23176 . 0/1:-1448.17,0,-1805.16:1585:823:733:22611:26438:823,733 0/1:-1666.64,0,-1658.35:1619:793:802:25094:24677:793,802 1/1:-4355.03,-458.443,0:1715:24:1665:51314:567:24,1665 1/1:-2213.77,-237.702,0:890:13:854:26203:262:13,854 0/1:-1208.12,0,-1506.94:1354:713:619:19147:22090:713,619 0/1:-1607.01,0,-1813.75:1734:862:824:24848:26857:862,824 . 0/1:-1627.35,0,-1562.34:1582:770:778:24553:23648:770,778 1/1:-3886.56,-409.894,0:1515:19:1477:46050:474:19,1477 0/1:-1564.42,0,-1763.67:1668:847:780:24082:26244:847,780 0/1:-1434.67,0,-1809.74:1622:858:740:22664:26528:858,740 0/1:-1205.2,0,-1492.77:1335:695:613:18614:21742:695,613 0/1:-1405.93,0,-1609.27:1505:760:708:21795:23718:760,708 1/1:-3237.83,-354.713,0:1322:14:1272:38602:368:14,1272 1/1:-4070.16,-407.015,0:1652:34:1589:48716:937:34,1589 1/1:-3671.58,-410.867,0:1468:11:1423:43699:255:11,1423 0/1:-1573.4,0,-1904.71:1725:892:804:24438:27979:892,804 0/1:-1436.76,0,-1435.63:1426:687:713:21941:21518:687,713 0/1:-1196.17,0,-1477.47:1333:701:604:18557:21618:701,604 1/1:-3672.38,-387.996,0:1475:22:1429:44232:616:22,1429 chr1 116260544 . C T 13959.24 . AB=0;ABP=0;AC=65;AF=1;AN=112;AO=1151;CIGAR=1X;DP=78667;DPB=1210;DPRA=0;EPP=202.282;EPPR=4.31318;GTI=0;LEN=1;MEANALT=3;MQM=35.9201;MQMR=36.8;NS=1;NUMALT=1;ODDS=1460.56;PAIRED=0.972198;PAIREDR=0.933333;PAO=0;PQA=0;PQR=0;PRO=0;QA=32303;QR=447;RO=15;RPL=561;RPP=4.59693;RPPR=3.15506;RPR=590;RUN=1;SAF=414;SAP=199.837;SAR=737;SF=0,1;SRF=5;SRP=6.62942;SRR=10;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2274;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2274;1000g2015aug_all=0.250799;avsnp147=rs3811001;Kaviar_AF=0.231912;Kaviar_AC=35854;Kaviar_AN=154602;ExAC_ALL=0.2359;ExAC_AFR=0.2206;ExAC_AMR=0.2716;ExAC_EAS=0.1573;ExAC_FIN=0.2352;ExAC_NFE=0.2315;ExAC_OTH=0.2362;ExAC_SAS=0.2797;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0247;dpsi_zscore=0.166;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2363;gnomAD_exome_AFR=0.2195;gnomAD_exome_AMR=0.2651;gnomAD_exome_ASJ=0.2091;gnomAD_exome_EAS=0.1534;gnomAD_exome_FIN=0.2325;gnomAD_exome_NFE=0.2347;gnomAD_exome_OTH=0.2600;gnomAD_exome_SAS=0.2725;gnomAD_genome_ALL=0.2229;gnomAD_genome_AFR=0.2062;gnomAD_genome_AMR=0.2734;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.1395;gnomAD_genome_FIN=0.2258;gnomAD_genome_NFE=0.2379;gnomAD_genome_OTH=0.2311;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2594.25,-313.293,0:1210:15:1151:32303:447 . . 0/1:-773.904,0,-879.623:920:456:442:12678:13923 . . 0/1:-1071.37,0,-1336.73:1326:676:625:18092:20703 0/1:-1173.92,0,-1748.46:1647:878:728:20296:26447 0/1:-951.958,0,-1220.51:1220:611:580:15914:18629 1/1:-3442.32,-406.853,0:1561:19:1501:42408:586 1/1:-2541.43,-288.77,0:1191:25:1127:31609:668 0/1:-1140.69,0,-1640.04:1519:807:677:19023:24653 . . . . 0/1:-788.379,0,-976.622:1033:522:491:13710:15500 . 0/1:-1121.74,0,-1332.64:1360:685:636:18505:20864 . . . . . . 1/1:-2053.34,-269.593,0:987:9:939:26000:190 . . . 0/1:-774.889,0,-1179.32:1115:598:494:13509:17865 1/1:-2579.01,-301.565,0:1175:17:1125:31648:503 0/1:-1577.17,0,-2009.24:1958:980:932:26216:30613 . 0/1:-910.691,0,-988.943:1079:516:526:14758:15735 . 0/1:-1460.93,0,-1687.52:1796:869:876:24332:26260 0/1:-1114.22,0,-1376.97:1405:705:657:18488:21204 0/1:-1320.18,0,-1508.81:1553:759:762:21767:23392 . . . . . 0/1:-1172.3,0,-1379.67:1438:719:674:19167:21515 0/1:-1537.64,0,-1585.45:1772:847:878:24739:25531 0/1:-1258.54,0,-1452.15:1493:720:735:20613:22452 . 0/1:-674.524,0,-667.193:759:360:378:10721:10589 0/1:-1085.63,0,-1187.06:1260:611:633:17883:18478 0/1:-1394.64,0,-1729.98:1772:902:819:23237:26962 0/1:-1211.45,0,-1622.57:1559:803:721:20348:24557 0/1:-1072.55,0,-1220.2:1339:652:651:18239:19900 0/1:-1407.81,0,-1703.73:1741:879:823:23031:26858 . 0/1:-734.201,0,-909.226:980:488:471:12739:14723 . . . 1/1:-2241.39,-266.678,0:1043:14:988:27254:419 . . 0/1:-1502.59,0,-1828.72:1832:924:867:24778:27823 . . . 0/1:-1135.01,0,-1702.45:1539:840:663:18935:25494 . . 0/1:-1107.88,0,-1113.93:1258:588:636:17690:17585 . 0/1:-1124.97,0,-1326.71:1412:692:676:18668:20993 0/1:-1305.23,0,-1873.99:1754:937:783:22314:28509 0/1:-1348.14,0,-1588.59:1655:804:811:22603:24824 . . . . 1/1:-3588.96,-414.87,0:1614:22:1551:44078:680 . 0/1:-912.469,0,-877.468:1014:466:528:14687:13880 0/1:-1164.44,0,-1619.47:1557:811:710:19802:24796 0/1:-1296.74,0,-1774.47:1732:904:784:22033:27544 . . 0/1:-1099.66,0,-1043.09:1277:607:631:17773:17778 . 0/1:-873.004,0,-964.101:1038:500:515:14683:15183 . . 0/1:-1135.88,0,-1378.68:1396:702:666:18655:21447 . . 0/1:-1183.65,0,-1706.27:1605:854:712:19946:25930 . . . 0/1:-1350.02,0,-1830.98:1579:838:717:21414:26510:838,717 . 0/1:-1577.05,0,-1863.11:1703:864:819:24485:27568:864,819 0/1:-775.165,0,-1021.78:891:464:415:12282:15019:464,415 0/1:-1162.15,0,-1587.23:1363:725:623:18506:23102:725,623 0/1:-1585.16,0,-1872.07:1727:870:824:24654:27583:870,824 . . 0/1:-1400.19,0,-1624.94:1497:755:725:21814:24201:755,725 . 0/1:-1338.25,0,-1870.42:1587:850:714:21370:27210:850,714 . 0/1:-1302.39,0,-1639.05:1480:765:697:20685:24188:765,697 1/1:-3241.51,-359.179,0:1320:10:1285:38496:348:10,1285 . 0/1:-1200.52,0,-1662.99:1449:772:654:19583:24603:772,654 . 0/1:-1365.3,0,-1531.48:1408:705:691:20978:22606:705,691 0/1:-1137.91,0,-1507.13:1302:686:598:17864:21954:686,598 1/1:-3481.97,-335.283,0:1467:38:1406:42359:1210:38,1406 chr1 116260570 . T C 12853.68 . AB=0.458796;ABP=40.2316;AC=3;AF=0.5;AN=6;AO=1158;CIGAR=1X;DP=5008;DPB=2524;DPRA=0;EPP=93.7696;EPPR=85.3325;GTI=0;LEN=1;MEANALT=3;MQM=36.2634;MQMR=39.5962;NS=1;NUMALT=1;ODDS=4508.16;PAIRED=0.970639;PAIREDR=0.973846;PAO=0;PQA=0;PQR=0;PRO=0;QA=33530;QR=39072;RO=1300;RPL=720;RPP=152.133;RPPR=317.633;RPR=438;RUN=1;SAF=399;SAP=246.035;SAR=759;SF=0;SRF=446;SRP=281.066;SRR=854;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.0215;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0215;esp6500siv2_ea=0.0022;1000g2015aug_all=0.0199681;avsnp147=rs28730715;Kaviar_AF=0.0012678;Kaviar_AC=196;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0665;dpsi_zscore=-0.334;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0162;gnomAD_genome_AFR=0.0554;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-2017.2,0,-2597.78:2524:1300:1158:33530:39072 . . . . . . . . . 0/1:-1097.12,0,-1304.59:1322:676:626:17893:20241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-882.754,0,-1043.58:1162:580:550:15296:16997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116269700 . T C 4378.91 . AB=0.441315;ABP=22.1254;AC=1;AF=0.5;AN=2;AO=282;CIGAR=1X;DP=639;DPB=639;DPRA=0;EPP=20.7517;EPPR=16.4455;GTI=0;LEN=1;MEANALT=3;MQM=35.8156;MQMR=37.4094;NS=1;NUMALT=1;ODDS=1008.28;PAIRED=0.812057;PAIREDR=0.777778;PAO=0;PQA=0;PQR=0;PRO=0;QA=7896;QR=10176;RO=342;RPL=107;RPP=38.6163;RPPR=52.1795;RPR=175;RUN=1;SAF=150;SAP=5.50518;SAR=132;SF=0;SRF=169;SRP=3.11189;SRR=173;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon6:c.A650G:p.Y217C;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs373227317;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.671e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.032e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.76;MutationAssessor_pred=M;FATHMM_score=-1.36;FATHMM_pred=T;PROVEAN_score=-6.24;PROVEAN_pred=D;VEST3_score=0.942;CADD_raw=5.356;CADD_phred=25.9;DANN_score=0.998;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_pred=D;MetaSVM_score=0.355;MetaSVM_pred=D;MetaLR_score=0.615;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.62;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.122;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=11.968;GDI_full_10282015=.;dpsi_max_tissue=-1.6096;dpsi_zscore=-1.761;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.846e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.939e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.587e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-452.219,0,-651.035:639:342:282:7896:10176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116269768 . A C 8030.34 . AB=0.444942;ABP=32.4214;AC=1;AF=0.5;AN=2;AO=497;CIGAR=1X;DP=1117;DPB=1117;DPRA=0;EPP=3.99336;EPPR=3.18502;GTI=0;LEN=1;MEANALT=3;MQM=37.7284;MQMR=39.2184;NS=1;NUMALT=1;ODDS=1849.05;PAIRED=0.764588;PAIREDR=0.786535;PAO=0;PQA=0;PQR=0;PRO=0;QA=14184;QR=19134;RO=609;RPL=367;RPP=248.422;RPPR=365.853;RPR=130;RUN=1;SAF=176;SAP=94.8719;SAR=321;SF=0;SRF=223;SRP=97.7457;SRR=386;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0064;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0064;1000g2015aug_all=0.00259585;avsnp147=rs72554064;Kaviar_AF=0.004366;Kaviar_AC=675;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0007;ExAC_AMR=0.0080;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0061;ExAC_OTH=0.0081;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7131;dpsi_zscore=1.868;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0046;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0143;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0057;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0054;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-848.37,0,-1276.54:1117:609:497:14184:19134 . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116280971 . G C 9401.79 . AB=0.456998;ABP=22.0592;AC=1;AF=0.5;AN=2;AO=542;CIGAR=1X;DP=1186;DPB=1186;DPRA=0;EPP=5.31799;EPPR=45.3736;GTI=0;LEN=1;MEANALT=3;MQM=38.131;MQMR=39.3842;NS=1;NUMALT=1;ODDS=2164.84;PAIRED=0.940959;PAIREDR=0.960591;PAO=0;PQA=0;PQR=0;PRO=0;QA=15707;QR=18975;RO=609;RPL=346;RPP=93.1544;RPPR=210.106;RPR=196;RUN=1;SAF=173;SAP=156.92;SAR=369;SF=0;SRF=190;SRP=189.996;SRR=419;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs199939582;Kaviar_AF=0.0006856;Kaviar_AC=106;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0022;ExAC_SAS=0.0048;CLNALLELEID=53333;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1883;dpsi_zscore=-0.664;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0050;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-974.112,0,-1267.98:1186:609:542:15707:18975 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116280980 . C G 7684.68 . AB=0.430221;ABP=46.9518;AC=1;AF=0.5;AN=2;AO=447;CIGAR=1X;DP=1039;DPB=1039;DPRA=0;EPP=12.8475;EPPR=6.6907;GTI=0;LEN=1;MEANALT=3;MQM=38.4295;MQMR=38.6032;NS=1;NUMALT=1;ODDS=1769.46;PAIRED=0.991051;PAIREDR=0.96649;PAO=0;PQA=0;PQR=0;PRO=0;QA=13030;QR=16975;RO=567;RPL=276;RPP=56.5684;RPPR=68.7328;RPR=171;RUN=1;SAF=142;SAP=132.079;SAR=305;SF=0;SRF=162;SRP=229.154;SRR=405;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0012;1000g2015aug_all=.;avsnp147=rs72554061;Kaviar_AF=0.0017141;Kaviar_AC=265;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0004;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0031;ExAC_OTH=0.0033;ExAC_SAS=6.057e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1611;dpsi_zscore=0.642;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-798.983,0,-1121.1:1039:567:447:13030:16975 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116283343 . A G 21127.85 . AB=0.466523;ABP=12.0245;AC=197;AF=0.5;AN=220;AO=432;CIGAR=1X;DP=110630;DPB=926;DPRA=0;EPP=29.068;EPPR=45.4092;GTI=0;LEN=1;MEANALT=3;MQM=38.7708;MQMR=39.4534;NS=1;NUMALT=1;ODDS=1846.78;PAIRED=0.967593;PAIREDR=0.959746;PAO=0;PQA=0;PQR=0;PRO=0;QA=13025;QR=15100;RO=472;RPL=129;RPP=155.194;RPPR=162.172;RPR=303;RUN=1;SAF=263;SAP=47.425;SAR=169;SF=0,1;SRF=283;SRP=43.661;SRR=189;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.7084;esp6500siv2_ea=0.8780;esp6500siv2_all=0.7084;esp6500siv2_ea=0.8780;1000g2015aug_all=0.64357;avsnp147=rs9428083;Kaviar_AF=0.785559;Kaviar_AC=121449;Kaviar_AN=154602;ExAC_ALL=0.7872;ExAC_AFR=0.3602;ExAC_AMR=0.7652;ExAC_EAS=0.7627;ExAC_FIN=0.8160;ExAC_NFE=0.8689;ExAC_OTH=0.7991;ExAC_SAS=0.7403;CLNALLELEID=53331;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1535;dpsi_zscore=-0.589;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7965;gnomAD_exome_AFR=0.3495;gnomAD_exome_AMR=0.7742;gnomAD_exome_ASJ=0.8469;gnomAD_exome_EAS=0.7659;gnomAD_exome_FIN=0.8132;gnomAD_exome_NFE=0.8748;gnomAD_exome_OTH=0.8062;gnomAD_exome_SAS=0.7465;gnomAD_genome_ALL=0.7101;gnomAD_genome_AFR=0.3715;gnomAD_genome_AMR=0.7763;gnomAD_genome_ASJ=0.8411;gnomAD_genome_EAS=0.8102;gnomAD_genome_FIN=0.8188;gnomAD_genome_NFE=0.8575;gnomAD_genome_OTH=0.8075;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-832.256,0,-1005.19:926:472:432:13025:15100 1/1:-2848.58,-329.195,0:1149:4:1121:34286:107 1/1:-2286.49,-258.354,0:926:6:896:27395:164 1/1:-1441.92,-167.713,0:579:1:557:17140:21 1/1:-2547.01,-280.677,0:1039:9:1002:30728:280 1/1:-3258.4,-377.156,0:1313:3:1273:38917:86 0/1:-804.639,0,-924.831:872:436:417:12663:14066 0/1:-1136.84,0,-1134.28:1153:549:571:17489:17489 1/1:-2385.36,-277.539,0:955:1:925:28393:14 . 0/1:-886.789,0,-1012.38:977:485:467:13946:15438 1/1:-2408.91,-276.692,0:978:3:935:28702:64 1/1:-2379.65,-271.649,0:950:2:918:28272:72 1/1:-1830.37,-221.554,0:759:2:739:22268:28 0/1:-905.836,0,-840.006:862:404:447:13615:12883 1/1:-3631.71,-416.756,0:1493:7:1426:43192:182 0/1:-810.684,0,-699.791:796:351:419:12805:11159 0/1:-1912.8,0,-2038.39:1981:956:985:29925:30849 1/1:-2354,-275.267,0:951:4:920:28109:100 1/1:-1769.47,-207.451,0:721:2:698:21270:50 1/1:-1923.83,-219.31,0:786:7:753:23187:138 1/1:-2692.27,-305.693,0:1083:4:1047:32078:122 1/1:-1541.04,-173.365,0:638:4:605:18574:113 1/1:-2666.27,-312.458,0:1082:1:1041:31828:14 1/1:-2891.34,-320.663,0:1174:11:1136:34663:331 1/1:-1902.99,-227.783,0:827:3:785:23225:108 1/1:-2501.56,-288.527,0:1021:5:983:29906:132 0/1:-1141.17,0,-1136.32:1151:546:577:17392:17446 1/1:-2028.04,-241.345,0:844:1:807:24342:21 1/1:-1776.2,-198.732,0:692:3:674:21213:64 . 1/1:-3038.61,-345.222,0:1225:5:1177:36302:176 1/1:-2801.29,-323.436,0:1150:7:1107:33487:160 0/1:-819.59,0,-962.643:893:454:417:12709:14626 1/1:-2469.49,-278.786,0:972:2:944:29309:68 1/1:-2830.28,-323.254,0:1117:5:1091:33702:130 0/1:-1047.15,0,-953.152:1031:472:535:16136:14976 0/1:-987.256,0,-1101.22:1032:516:487:15331:16728 1/1:-2439.87,-282.63,0:1012:5:969:29501:128 1/1:-1741.29,-204.044,0:705:1:681:20864:14 1/1:-3127.95,-359.698,0:1245:4:1206:37454:69 1/1:-2173.17,-249.159,0:892:6:856:26155:133 1/1:-2509.03,-291.961,0:1021:4:983:30001:69 1/1:-2857.75,-326.258,0:1149:4:1108:34306:96 1/1:-3163.12,-360.09,0:1256:7:1217:37803:149 1/1:-2882.96,-317.292,0:1164:12:1118:34348:301 1/1:-2693.46,-311.867,0:1069:0:1036:32070:0 1/1:-1415.17,-163.439,0:562:1:546:16687:14 0/1:-882.997,0,-817.134:840:383:439:13348:12637 0/1:-1142.85,0,-1314.37:1243:626:590:17912:19965 1/1:-2602.92,-300.909,0:1054:3:1018:31151:82 1/1:-2278.9,-266.551,0:934:3:905:27424:78 0/1:-1147.87,0,-1291.79:1192:600:561:17500:19288 1/1:-2835.02,-327.913,0:1152:7:1104:33748:98 1/1:-1765.99,-211.66,0:725:1:703:21530:36 1/1:-1916.92,-206.398,0:778:10:740:22813:230 1/1:-2528.45,-296.214,0:1025:0:984:30256:0 1/1:-1309.67,-161.312,0:549:1:537:16059:14 0/1:-694.662,0,-766.366:743:363:365:11056:11666 1/1:-2483.62,-279.192,0:1002:6:964:29596:146 1/1:-1522.58,-187.571,0:652:2:626:18761:28 1/1:-2873.54,-329.29,0:1157:4:1121:34149:118 1/1:-2464.52,-282.326,0:970:2:944:29108:28 1/1:-1811.48,-211.266,0:749:5:725:22001:143 1/1:-3057.77,-356.067,0:1217:2:1187:36519:28 1/1:-2641.2,-303.841,0:1064:5:1029:31238:83 1/1:-1323.81,-153.859,0:555:3:530:16023:104 1/1:-2818.81,-323.43,0:1147:4:1104:33715:114 0/1:-843.648,0,-895.769:902:437:439:13232:13835 1/1:-2512.52,-285.757,0:1033:6:996:30413:190 1/1:-2667.56,-305.999,0:1060:1:1026:31636:36 0/1:-1277.6,0,-1503.05:1373:700:655:19878:22657 1/1:-3015.4,-341.067,0:1208:4:1160:35827:114 1/1:-1476.02,-182.934,0:652:8:621:18367:134 1/1:-2129.36,-238.848,0:848:4:825:25407:122 1/1:-3052.41,-344.739,0:1243:8:1200:36652:222 1/1:-2836.28,-325.98,0:1130:5:1105:34005:108 1/1:-3026.78,-339.37,0:1230:9:1183:36346:232 1/1:-1742.49,-198.709,0:696:3:679:20766:108 1/1:-1838.78,-213.885,0:748:3:730:22349:77 1/1:-2650.3,-310.663,0:1065:0:1032:31540:0 . . 1/1:-2454.49,-279.782,0:1000:6:964:29595:172 . 1/1:-2427.35,-277.503,0:976:4:955:28981:136 1/1:-1881.23,-216.8,0:768:4:744:22730:118 1/1:-2893.86,-330.228,0:1172:5:1138:34826:158 1/1:-1548.09,-183.327,0:627:0:609:18579:0 1/1:-2421.38,-278.62,0:996:6:963:29247:157 0/1:-1411.1,0,-1378.12:1417:667:718:21754:21290 1/1:-2315.07,-262.229,0:919:4:890:27579:78 1/1:-2988.13,-343.553,0:1201:6:1161:35688:106 1/1:-2746.82,-314.831,0:1093:3:1067:33018:82 1/1:-2476.12,-288.348,0:1015:3:979:29879:82 . 1/1:-2937.37,-312.327,0:1085:4:1068:34384:118:4,1068 1/1:-3016.7,-323.514,0:1118:4:1098:35182:100:4,1098 1/1:-3275.65,-348.836,0:1202:3:1181:38413:86:3,1181 1/1:-1939.53,-211.925,0:715:0:704:22585:0:0,704 0/1:-1082.56,0,-938.213:923:428:480:15743:14052:428,480 1/1:-3403.93,-365.846,0:1241:2:1228:39749:50:2,1228 1/1:-2709.44,-293.035,0:1019:5:999:31753:149:5,999 1/1:-3018.7,-320.849,0:1106:3:1087:35133:82:3,1087 1/1:-2768.52,-300.127,0:1009:0:997:32424:0:0,997 1/1:-2953.86,-318.782,0:1094:2:1078:34458:72:2,1078 1/1:-3437.09,-371.471,0:1248:0:1234:40034:0:0,1234 1/1:-2516.57,-264.266,0:929:4:905:29297:118:4,905 1/1:-2732.49,-292.911,0:1006:3:992:32105:82:3,992 0/1:-1091.53,0,-1143.07:1044:516:511:16483:16894:516,511 1/1:-2833.81,-289.214,0:1065:9:1035:33353:285:9,1035 1/1:-3065.09,-327.815,0:1142:5:1120:35601:158:5,1120 0/1:-1359.55,0,-1414.36:1255:632:615:20063:20784:632,615 0/1:-1174.13,0,-1254.19:1110:560:540:17551:18468:560,540 1/1:-2725.83,-290.02,0:998:3:979:31785:68:3,979 0/1:-1037.26,0,-1178.25:1028:525:493:15896:17193:525,493 chr1 116283440 . T C 8832.14 . AB=0.502058;ABP=3.04604;AC=1;AF=0.5;AN=2;AO=488;CIGAR=1X;DP=972;DPB=972;DPRA=0;EPP=69.2402;EPPR=43.9277;GTI=0;LEN=1;MEANALT=3;MQM=37.8156;MQMR=38.4837;NS=1;NUMALT=1;ODDS=2033.67;PAIRED=0.961066;PAIREDR=0.941176;PAO=0;PQA=0;PQR=0;PRO=0;QA=14230;QR=14258;RO=459;RPL=309;RPP=78.2109;RPPR=18.3809;RPR=179;RUN=1;SAF=254;SAP=4.7902;SAR=234;SF=0;SRF=221;SRP=4.37752;SRR=238;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon3:c.A329G:p.E110G;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.83;MutationAssessor_pred=M;FATHMM_score=-1.28;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_pred=D;VEST3_score=0.738;CADD_raw=6.362;CADD_phred=29.4;DANN_score=0.999;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_pred=D;MetaSVM_score=0.167;MetaSVM_pred=D;MetaLR_score=0.553;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.97;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=13.970;GDI_full_10282015=.;dpsi_max_tissue=-0.0490;dpsi_zscore=-0.261;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-905.296,0,-899.892:972:459:488:14230:14258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 116310966 . GT GC 722.78 . AB=0.424242;ABP=7.94546;AC=1;AF=0.5;AN=2;AO=42;CIGAR=1M1X;DP=99;DPB=99.5;DPRA=0;EPP=19.7617;EPPR=6.45911;GTI=0;LEN=1;MEANALT=3;MQM=41.2381;MQMR=39.6078;NS=1;NUMALT=1;ODDS=166.426;PAIRED=0.97619;PAIREDR=0.960784;PAO=1;PQA=36;PQR=0;PRO=0;QA=1213;QR=1633;RO=51;RPL=18;RPP=4.87156;RPPR=6.45911;RPR=24;RUN=1;SAF=30;SAP=19.7617;SAR=12;SF=1;SRF=42;SRP=49.3776;SRR=9;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=CASQ2:NM_001232:exon1:c.196delA:p.T66fs;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-81.8424,0,-111.553:99:51:42:1213:1633:51,42 . . . . . . . . . . . . . . . . . . chr1 116310967 . TGA CGA 2809.66 . AB=0.415771;ABP=20.2031;AC=91;AF=0.5;AN=144;AO=116;CIGAR=1X;DP=20629;DPB=279;DPRA=0;EPP=49.8093;EPPR=25.2818;GTI=0;LEN=1;MEANALT=3;MQM=37.7931;MQMR=38.4423;NS=1;NUMALT=1;ODDS=358.596;PAIRED=0.982759;PAIREDR=0.99359;PAO=0;PQA=0;PQR=0;PRO=0;QA=3029;QR=4574;RO=156;RPL=62;RPP=4.20835;RPPR=7.52028;RPR=54;RUN=1;SAF=95;SAP=105.519;SAR=21;SF=0,1;SRF=127;SRP=136.695;SRR=29;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon1:c.A196G:p.T66A;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.3394;esp6500siv2_ea=0.2891;esp6500siv2_all=0.3394;esp6500siv2_ea=0.2891;1000g2015aug_all=0.401158;avsnp147=rs4074536;Kaviar_AF=0.320132;Kaviar_AC=49493;Kaviar_AN=154602;ExAC_ALL=0.3265;ExAC_AFR=0.4538;ExAC_AMR=0.3635;ExAC_EAS=0.5483;ExAC_FIN=0.2731;ExAC_NFE=0.2837;ExAC_OTH=0.3040;ExAC_SAS=0.2999;CLNALLELEID=53328;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.943;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_pred=N;FATHMM_score=1.18;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_pred=N;VEST3_score=0.011;CADD_raw=-1.622;CADD_phred=0.002;DANN_score=0.183;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.939;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=3.44;phyloP7way_vertebrate=-2.525;phyloP20way_mammalian=-0.462;phastCons7way_vertebrate=0.858;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=8.620;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM108210#"QRS_interval_association_with";gnomAD_exome_ALL=0.3281;gnomAD_exome_AFR=0.4565;gnomAD_exome_AMR=0.3604;gnomAD_exome_ASJ=0.2596;gnomAD_exome_EAS=0.5498;gnomAD_exome_FIN=0.2770;gnomAD_exome_NFE=0.2901;gnomAD_exome_OTH=0.3256;gnomAD_exome_SAS=0.3019;gnomAD_genome_ALL=0.3281;gnomAD_genome_AFR=0.4433;gnomAD_genome_AMR=0.3513;gnomAD_genome_ASJ=0.2583;gnomAD_genome_EAS=0.5479;gnomAD_genome_FIN=0.2668;gnomAD_genome_NFE=0.2547;gnomAD_genome_OTH=0.2912;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-301.451:279:156:116:3029:4574 . . 1/1:.,.,0:198:0:190:5042:0 . 1/1:.,.,0:377:5:357:9102:123 . . 0/1:.,.,-272.108:312:144:147:3850:4322 . 0/1:.,.,-238.29:285:136:128:3504:3916 0/1:.,.,-291.855:342:160:160:4070:4643 . . 1/1:.,.,0:247:2:232:5943:28 . . . 0/1:.,.,-392.014:364:192:153:4026:5788 0/1:.,.,-177.962:196:96:93:2426:2895 . . . . . 1/1:.,.,0:225:2:209:5412:68 1/1:.,.,0:377:5:353:9228:139 0/1:.,.,-327.572:370:180:173:4731:5162 0/1:.,.,-195.755:246:118:113:2794:3328 0/1:.,.,-222.878:262:126:127:3455:3584 0/1:.,.,-375.139:314:188:114:2850:5575 0/1:.,.,-447.729:422:224:178:4404:6784 . . . . . . 0/1:.,.,-281.018:341:155:163:4148:4515 . 0/1:.,.,-383.189:387:207:164:4323:5869 . . 0/1:.,.,-294.06:326:158:153:3925:4652 0/1:.,.,-396.425:471:218:231:5889:6227 0/1:.,.,-274.391:332:156:156:3989:4526 0/1:.,.,-321.875:354:170:164:4267:5015 0/1:.,.,-199.063:197:112:78:2057:3188 . 0/1:.,.,-344.34:412:190:197:5361:5512 0/1:.,.,-388.9:389:204:166:4431:6007 0/1:.,.,-255.939:304:138:149:3614:4104 0/1:.,.,-414.031:379:207:154:4218:6092 0/1:.,.,-274.114:342:161:166:4371:4604 0/1:.,.,-187.319:239:105:120:2831:3022 0/1:.,.,-255.839:291:140:146:3801:4187 . . . 1/1:.,.,0:346:6:322:8270:164 0/1:.,.,-144.194:201:85:100:2367:2383 0/1:.,.,-431.006:473:237:204:5421:6730 0/1:.,.,-253.826:294:142:135:3377:4176 1/1:.,.,0:197:6:183:4761:145 0/1:.,.,-390.343:403:202:172:4315:5863 0/1:.,.,-303.188:371:166:176:4619:4806 . 0/1:.,.,-319.167:365:185:154:4078:5113 . 0/1:.,.,-375.66:405:202:179:4585:5844 1/1:.,.,0:330:7:298:7767:174 0/1:.,.,-450.434:467:234:212:5561:6957 1/1:.,.,0:336:3:313:8138:84 . . 1/1:.,.,0:402:8:362:9439:233 . 1/1:.,.,0:368:5:340:8645:139 . 0/1:.,.,-201.407:208:106:90:2498:3158 1/1:.,.,0:349:4:328:8843:78 0/1:.,.,-320.12:373:185:168:4448:5001 1/1:.,.,0:387:8:352:9122:200 0/1:.,.,-247.825:336:142:180:4534:4189 . 0/1:.,.,-300.952:298:162:121:3174:4627 0/1:.,.,-288.833:275:151:109:2705:4386 0/1:.,.,-322.427:352:173:166:4373:5073 . 1/1:.,.,0:302:2:283:7349:64 0/1:.,.,-426.906:465:226:221:5904:6677 1/1:.,.,0:305:8:278:7383:174 0/1:.,.,-397.05:412:212:183:4830:6143 0/1:.,.,-361.917:371:184:168:4211:5544 0/1:.,.,-306.433:349:169:166:4272:4873 . 0/1:.,.,-176.061:126:78:46:1354:2447:78,46 . 0/1:.,.,-60.8881:93:33:58:1632:1003:33,58 0/1:.,.,-45.3063:50:23:27:830:682:23,27 . 0/1:.,.,-112.589:113:57:52:1479:1651:57,52 . . 1/1:.,.,0:80:0:79:2384:0:0,79 0/1:.,.,-50.8235:65:28:35:1093:854:28,35 0/1:.,.,-76.2894:88:38:45:1411:1200:38,45 0/1:.,.,-81.3948:90:41:46:1367:1274:41,46 0/1:.,.,-97.4827:98:49:47:1432:1507:49,47 0/1:.,.,-104.047:96:52:42:1211:1514:52,42 1/1:.,.,0:113:0:112:3095:0:0,112 1/1:-186.303,-17.8025,0:87:2:76:2191:64:2,76 0/1:.,.,-102.625:104:50:51:1477:1509:50,51 . 1/1:-215.384,-22.0013,0:106:2:88:2528:64:2,88 . chr1 147230978 . G A 16624.25 . AB=0.472024;ABP=9.6926;AC=5;AF=0.5;AN=8;AO=464;CIGAR=1X;DP=5669;DPB=983;DPRA=0;EPP=16.6569;EPPR=17.3209;GTI=0;LEN=1;MEANALT=3;MQM=34.0862;MQMR=34.8945;NS=1;NUMALT=1;ODDS=1656.08;PAIRED=0.883621;PAIREDR=0.853955;PAO=0;PQA=0;PQR=0;PRO=0;QA=12993;QR=14926;RO=493;RPL=265;RPP=23.3959;RPPR=53.4387;RPR=199;RUN=1;SAF=210;SAP=12.0706;SAR=254;SF=0,1;SRF=216;SRP=19.3999;SRR=277;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GJA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA5:NM_005266:exon2:c.C369T:p.Y123Y,GJA5:NM_181703:exon2:c.C369T:p.Y123Y;cytoBand=1q21.2;genomicSuperDups=.;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0064;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0064;1000g2015aug_all=0.0163738;avsnp147=rs2232191;Kaviar_AF=0.0088162;Kaviar_AC=1363;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0004;ExAC_AMR=0.0054;ExAC_EAS=0.0469;ExAC_FIN=0.0011;ExAC_NFE=0.0069;ExAC_OTH=0.0099;ExAC_SAS=0.0085;CLNALLELEID=276314;CLNDN=Atrial_standstill_1|Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation;CLNDISDB=MedGen:C1838539,OMIM:108770|MedGen:C3279693,OMIM:614049|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0091;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=0.0482;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0065;gnomAD_exome_OTH=0.0058;gnomAD_exome_SAS=0.0081;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0488;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-731.612,0,-887.862:983:493:464:12993:14926 . . . . . . . . . . . . . . . . . . . . . 1/1:-2585.75,-346.531,0:1330:19:1260:34852:497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1916.93,0,-1647.65:1710:786:900:28301:25125:786,900 . . . . 0/1:-1676.69,0,-1731.64:1646:812:814:25220:25838:812,814 . . . . . . chr1 156084760 . C T 5050.74 . AB=0.429764;ABP=33.8186;AC=3;AF=0.5;AN=6;AO=309;CIGAR=1X;DP=3250;DPB=719;DPRA=0;EPP=12.6308;EPPR=11.9183;GTI=0;LEN=1;MEANALT=3;MQM=29.4013;MQMR=31.7301;NS=1;NUMALT=1;ODDS=672.464;PAIRED=0.857605;PAIREDR=0.826705;PAO=0;PQA=0;PQR=0;PRO=0;QA=7402;QR=10939;RO=352;RPL=77;RPP=171.844;RPPR=202.884;RPR=232;RUN=1;SAF=220;SAP=123.608;SAR=89;SF=0;SRF=235;SRP=88.9068;SRR=117;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001282626:exon1:c.C51T:p.S17S,LMNA:NM_005572:exon1:c.C51T:p.S17S,LMNA:NM_170707:exon1:c.C51T:p.S17S,LMNA:NM_170708:exon1:c.C51T:p.S17S,LMNA:NM_001282625:exon4:c.C51T:p.S17S;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0126;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0126;1000g2015aug_all=0.00678914;avsnp147=rs11549668;Kaviar_AF=0.0088873;Kaviar_AC=1374;Kaviar_AN=154602;ExAC_ALL=0.0240;ExAC_AFR=0.0092;ExAC_AMR=0.0370;ExAC_EAS=0.0005;ExAC_FIN=0.0243;ExAC_NFE=0.0371;ExAC_OTH=0.0265;ExAC_SAS=0.0061;CLNALLELEID=45141;CLNDN=Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1720;dpsi_zscore=-0.630;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0105;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0138;gnomAD_exome_ASJ=0.0172;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0049;gnomAD_exome_NFE=0.0141;gnomAD_exome_OTH=0.0138;gnomAD_exome_SAS=0.0042;gnomAD_genome_ALL=0.0080;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0116;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-331.172,0,-592.105:719:352:309:7402:10939 . . . 0/1:-510.175,0,-716.93:885:448:387:9898:13705 . 0/1:-853.325,0,-1387.99:1646:823:698:17713:24844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156084924 . G A 4209.33 . AB=0.44958;ABP=18.7763;AC=2;AF=0.5;AN=4;AO=321;CIGAR=1X;DP=1356;DPB=714;DPRA=0;EPP=11.2971;EPPR=35.3228;GTI=0;LEN=1;MEANALT=3;MQM=33.9502;MQMR=31.1793;NS=1;NUMALT=1;ODDS=1070.9;PAIRED=0.906542;PAIREDR=0.847826;PAO=0;PQA=0;PQR=0;PRO=0;QA=8686;QR=11387;RO=368;RPL=171;RPP=5.99354;RPPR=21.515;RPR=150;RUN=1;SAF=170;SAP=5.45236;SAR=151;SF=0;SRF=189;SRP=3.60037;SRR=179;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001282626:exon1:c.G215A:p.R72H,LMNA:NM_005572:exon1:c.G215A:p.R72H,LMNA:NM_170707:exon1:c.G215A:p.R72H,LMNA:NM_170708:exon1:c.G215A:p.R72H,LMNA:NM_001282625:exon4:c.G215A:p.R72H;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs727504340;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.396e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.488e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.94;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.59;MutationAssessor_pred=H;FATHMM_score=-2.52;FATHMM_pred=D;PROVEAN_score=-4.14;PROVEAN_pred=D;VEST3_score=0.603;CADD_raw=7.100;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=0.914;MetaSVM_pred=D;MetaLR_score=0.845;MetaLR_pred=D;integrated_fitCons_score=0.733;integrated_confidence_value=0;GERP++_RS=4.77;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.974;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.339;GDI_full_10282015=.;dpsi_max_tissue=-0.1383;dpsi_zscore=-0.553;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.658e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.93e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-474.721,0,-607.126:714:368:321:8686:11387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-387.339,0,-446.117:642:302:314:7958:8886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156096612 . T C 12201.70 . AB=0.454096;ABP=28.9269;AC=1;AF=0.5;AN=2;AO=643;CIGAR=1X;DP=1416;DPB=1416;DPRA=0;EPP=3.04069;EPPR=4.33115;GTI=0;LEN=1;MEANALT=3;MQM=38.0622;MQMR=38.8221;NS=1;NUMALT=1;ODDS=2809.55;PAIRED=0.951788;PAIREDR=0.921379;PAO=0;PQA=0;PQR=0;PRO=0;QA=19679;QR=21058;RO=725;RPL=248;RPP=75.986;RPPR=64.2578;RPR=395;RUN=1;SAF=294;SAP=13.226;SAR=349;SF=1;SRF=364;SRP=3.03726;SRR=361;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001282624:exon2:c.T19C:p.L7L;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747205385;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.115e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.986e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3875;dpsi_zscore=-0.968;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.245e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.573e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1237.79,0,-1374.11:1416:725:643:19679:21058:725,643 chr1 156100467 . C A 12471.30 . AB=0.449754;ABP=47.5266;AC=1;AF=0.5;AN=2;AO=913;CIGAR=1X;DP=2030;DPB=2030;DPRA=0;EPP=117.08;EPPR=184.977;GTI=0;LEN=1;MEANALT=3;MQM=34.9146;MQMR=36.4227;NS=1;NUMALT=1;ODDS=2871.63;PAIRED=0.88828;PAIREDR=0.90689;PAO=0;PQA=0;PQR=0;PRO=0;QA=23470;QR=31618;RO=1074;RPL=548;RPP=82.6603;RPPR=58.7245;RPR=365;RUN=1;SAF=439;SAP=5.92383;SAR=474;SF=0;SRF=497;SRP=15.9502;SRR=577;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon2:c.C80A:p.A27D,LMNA:NM_001282626:exon2:c.C416A:p.A139D,LMNA:NM_005572:exon2:c.C416A:p.A139D,LMNA:NM_170707:exon2:c.C416A:p.A139D,LMNA:NM_170708:exon2:c.C416A:p.A139D,LMNA:NM_001282624:exon3:c.C173A:p.A58D,LMNA:NM_001282625:exon5:c.C416A:p.A139D;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.041;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.972;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.585;MutationAssessor_pred=L;FATHMM_score=-1.57;FATHMM_pred=D;PROVEAN_score=-3.37;PROVEAN_pred=D;VEST3_score=0.884;CADD_raw=5.771;CADD_phred=27.0;DANN_score=0.997;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_pred=D;MetaSVM_score=0.577;MetaSVM_pred=D;MetaLR_score=0.733;MetaLR_pred=D;integrated_fitCons_score=0.675;integrated_confidence_value=0;GERP++_RS=5.59;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=17.084;GDI_full_10282015=.;dpsi_max_tissue=0.4954;dpsi_zscore=1.128;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1278.26,0,-1981.74:2030:1074:913:23470:31618 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156104245 . C T 12543.90 . AB=0.453312;ABP=37.8859;AC=1;AF=0.5;AN=2;AO=835;CIGAR=1X;DP=1842;DPB=1842;DPRA=0;EPP=8.27645;EPPR=17.0661;GTI=0;LEN=1;MEANALT=3;MQM=34.7964;MQMR=35.5409;NS=1;NUMALT=1;ODDS=2888.33;PAIRED=0.922156;PAIREDR=0.914845;PAO=0;PQA=0;PQR=0;PRO=0;QA=22721;QR=25720;RO=869;RPL=267;RPP=238.624;RPPR=241.6;RPR=568;RUN=1;SAF=406;SAP=4.386;SAR=429;SF=0;SRF=411;SRP=8.53019;SRR=458;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon3:c.C229T:p.R77W,LMNA:NM_001282626:exon3:c.C565T:p.R189W,LMNA:NM_005572:exon3:c.C565T:p.R189W,LMNA:NM_170707:exon3:c.C565T:p.R189W,LMNA:NM_170708:exon3:c.C565T:p.R189W,LMNA:NM_001282624:exon4:c.C322T:p.R108W,LMNA:NM_001282625:exon6:c.C565T:p.R189W;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000399361;avsnp147=rs267607626;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=1.65e-05;ExAC_AFR=0;ExAC_AMR=8.655e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=77803;CLNDN=Primary_dilated_cardiomyopathy|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN517202;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;SIFT_score=0.211;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.74;MutationAssessor_pred=L;FATHMM_score=-2.45;FATHMM_pred=D;PROVEAN_score=-1.94;PROVEAN_pred=N;VEST3_score=0.948;CADD_raw=5.482;CADD_phred=26.2;DANN_score=0.996;fathmm-MKL_coding_score=0.839;fathmm-MKL_coding_pred=D;MetaSVM_score=0.311;MetaSVM_pred=D;MetaLR_score=0.680;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.3;phyloP7way_vertebrate=-0.662;phyloP20way_mammalian=0.020;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=13.396;GDI_full_10282015=.;dpsi_max_tissue=-0.0952;dpsi_zscore=-0.434;hgmdCODING=HGMD::Cardiomyopathy,_dilated#20307303;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM101732#"Cardiomyopathy_dilated";gnomAD_exome_ALL=1.218e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.953e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1287.66,0,-1548.72:1842:869:835:22721:25720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156104292 . G A 13128.05 . AB=0.455342;ABP=22.7931;AC=5;AF=0.5;AN=10;AO=520;CIGAR=1X;DP=8499;DPB=1142;DPRA=0;EPP=14.302;EPPR=10.3857;GTI=0;LEN=1;MEANALT=3;MQM=30.4885;MQMR=32.8211;NS=1;NUMALT=1;ODDS=1744.54;PAIRED=0.805769;PAIREDR=0.866667;PAO=0;PQA=0;PQR=0;PRO=0;QA=15294;QR=16787;RO=570;RPL=340;RPP=109.914;RPPR=167.829;RPR=180;RUN=1;SAF=222;SAP=27.1303;SAR=298;SF=0;SRF=252;SRP=19.6049;SRR=318;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon3:c.G276A:p.L92L,LMNA:NM_001282626:exon3:c.G612A:p.L204L,LMNA:NM_005572:exon3:c.G612A:p.L204L,LMNA:NM_170707:exon3:c.G612A:p.L204L,LMNA:NM_170708:exon3:c.G612A:p.L204L,LMNA:NM_001282624:exon4:c.G369A:p.L123L,LMNA:NM_001282625:exon6:c.G612A:p.L204L;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.0057;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0057;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00798722;avsnp147=rs12117552;Kaviar_AF=0.0089973;Kaviar_AC=1391;Kaviar_AN=154602;ExAC_ALL=0.0097;ExAC_AFR=0.0017;ExAC_AMR=0.0035;ExAC_EAS=0.0001;ExAC_FIN=0.0115;ExAC_NFE=0.0088;ExAC_OTH=0.0088;ExAC_SAS=0.0270;CLNALLELEID=57235;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4509;dpsi_zscore=-1.041;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0098;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0228;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0105;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0098;gnomAD_exome_SAS=0.0268;gnomAD_genome_ALL=0.0060;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0086;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-780.518,0,-938.676:1142:570:520:15294:16787 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1400.29,0,-1298.27:1712:794:836:24326:23104 0/1:-1393.5,0,-1163.05:1585:699:820:23607:20422 . . . . . . . . . 0/1:-1419.13,0,-1467.57:1862:909:884:25113:26146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1709.64,0,-1804.32:2198:1056:1048:30090:31162 . . . . . . . . . . . . . . . . . . . . . . . chr1 156105028 . T C 16641.79 . AB=0.519737;ABP=7.12467;AC=31;AF=0.5;AN=58;AO=632;CIGAR=1X;DP=46188;DPB=1216;DPRA=0;EPP=99.9844;EPPR=79.3669;GTI=0;LEN=1;MEANALT=3;MQM=32.9509;MQMR=34.4487;NS=1;NUMALT=1;ODDS=1702.8;PAIRED=0.799051;PAIREDR=0.81749;PAO=0;PQA=0;PQR=0;PRO=0;QA=18776;QR=14249;RO=526;RPL=362;RPP=32.0915;RPPR=20.9931;RPR=270;RUN=1;SAF=312;SAP=3.2302;SAR=320;SF=0,1;SRF=273;SRP=4.66161;SRR=253;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon5:c.T525C:p.A175A,LMNA:NM_001282626:exon5:c.T861C:p.A287A,LMNA:NM_005572:exon5:c.T861C:p.A287A,LMNA:NM_170707:exon5:c.T861C:p.A287A,LMNA:NM_170708:exon5:c.T861C:p.A287A,LMNA:NM_001282624:exon6:c.T618C:p.A206A,LMNA:NM_001282625:exon8:c.T861C:p.A287A;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1978;esp6500siv2_ea=0.0751;esp6500siv2_all=0.1978;esp6500siv2_ea=0.0751;1000g2015aug_all=0.193091;avsnp147=rs538089;Kaviar_AF=0.106389;Kaviar_AC=16448;Kaviar_AN=154602;ExAC_ALL=0.1094;ExAC_AFR=0.4522;ExAC_AMR=0.0621;ExAC_EAS=0.0200;ExAC_FIN=0.0560;ExAC_NFE=0.0745;ExAC_OTH=0.0982;ExAC_SAS=0.1360;CLNALLELEID=57252;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8358;dpsi_zscore=1.413;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1011;gnomAD_exome_AFR=0.4589;gnomAD_exome_AMR=0.0647;gnomAD_exome_ASJ=0.1316;gnomAD_exome_EAS=0.0192;gnomAD_exome_FIN=0.0559;gnomAD_exome_NFE=0.0722;gnomAD_exome_OTH=0.0952;gnomAD_exome_SAS=0.1378;gnomAD_genome_ALL=0.1739;gnomAD_genome_AFR=0.4433;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0204;gnomAD_genome_FIN=0.0684;gnomAD_genome_NFE=0.0712;gnomAD_genome_OTH=0.0835;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1076.86,0,-758.603:1216:526:632:18776:14249 . 0/1:-1290.14,0,-1213.1:1594:753:776:22685:21316 . 0/1:-1407.41,0,-1218.3:1793:812:890:25846:22294 . 0/1:-1131.78,0,-1075.25:1461:682:710:20301:18911 . 0/1:-1075.54,0,-1297.85:1628:818:728:20574:22692 . . . . 0/1:-941.07,0,-942.123:1398:656:668:18401:17856 . . . . . . . . . . . . . 0/1:-1204.53,0,-921.958:1450:616:761:21749:17097 . 0/1:-913.148,0,-900.031:1232:578:589:17031:15949 . . . . . . . 0/1:-1276.63,0,-1090.81:1544:696:776:22535:19414 . . 0/1:-1733.75,0,-1528.78:2136:993:1046:30879:27288 . . . . . 0/1:-1169.62,0,-1281.83:1655:800:757:21720:22293 0/1:-775.297,0,-636.645:904:416:441:13153:11420 . 0/1:-1644.85,0,-1677.63:2142:1039:1015:29983:28691 . 0/1:-1359.83,0,-1050.42:1642:710:859:24652:19675 . . . 0/1:-983.335,0,-911.706:1253:593:597:17623:16224 . . . 0/1:-1662.58,0,-1386.5:2024:910:1011:29131:25443 . 0/1:-1546.29,0,-1764.94:2230:1114:999:28755:30804 . 0/1:-746.876,0,-866.54:1171:568:516:14725:15664 . . 0/1:-680.148,0,-689.467:970:457:462:13201:12805 . . . . . . . . . . . . 0/1:-768.972,0,-732.887:1009:477:479:14097:13309 . 0/1:-1376.72,0,-1395.21:1853:889:881:25323:24352 . . . . 0/1:-967.202,0,-978.923:1264:611:590:17278:17226 . 0/1:-673.926,0,-707.929:943:472:434:12572:12782 . 0/1:-1637.09,0,-1697.6:2200:1085:1010:29957:29771 0/1:-1189.62,0,-1168.82:1607:775:748:21800:20859 . 1/1:-3780.97,-436.516,0:1839:52:1744:50666:1363 0/1:-1520.93,0,-1418.09:1969:908:947:27088:25444 . . . . . . . . 1/1:-5652.39,-558.524,0:2242:49:2168:68427:1350:49,2168 . . . . . . . . . 0/1:-1728.85,0,-1854.83:1819:925:862:26688:28408:925,862 . . chr1 156105678 . CCA CCC 78.39 . AB=0.336898;ABP=89.4279;AC=3;AF=0.5;AN=6;AO=126;CIGAR=2M1X;DP=1074;DPB=376.667;DPRA=0;EPP=130.472;EPPR=54.8889;GTI=0;LEN=1;MEANALT=15;MQM=21.3889;MQMR=27.346;NS=1;NUMALT=1;ODDS=6.97924;PAIRED=0.904762;PAIREDR=0.701422;PAO=0.5;PQA=16;PQR=44;PRO=4.5;QA=2101;QR=5537;RO=211;RPL=76;RPP=14.6604;RPPR=80.9054;RPR=50;RUN=1;SAF=96;SAP=78.0812;SAR=30;SF=0;SRF=86;SRP=18.6634;SRR=125;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-37.373,0,-269.89:374:211:126:2101:5537 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-45.3356,0,-355.203:478:264:170:2803:7128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-29.5678,0,-174.533:222:120:81:1417:3211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156105679 . CA CC 60.58 . AB=0.346109;ABP=180.12;AC=4;AF=0.5;AN=8;AO=298;CIGAR=1M1X;DP=1977;DPB=865;DPRA=0;EPP=233.886;EPPR=163.432;GTI=0;LEN=1;MEANALT=8;MQM=20.2852;MQMR=27.8788;NS=1;NUMALT=1;ODDS=19.2932;PAIRED=0.88255;PAIREDR=0.590385;PAO=3.5;PQA=62;PQR=7;PRO=4.5;QA=5116;QR=13638;RO=520;RPL=180;RPP=31.0208;RPPR=138.31;RPR=118;RUN=1;SAF=240;SAP=244.379;SAR=58;SF=0;SRF=186;SRP=94.4794;SRR=334;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-82.4123,0,-697.243:861:520:298:5116:13638 . . . . . . . . . . . . . . . 0/1:-37.8674,0,-309.838:398:235:138:2373:5976 . . . . . . . . . . . 0/1:-35.4898,0,-328.135:380:227:130:2292:6051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-37.1055,0,-228.145:338:187:129:2129:4766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156105680 . A C 51.17 . AB=0.351675;ABP=82.8872;AC=4;AF=0.5;AN=8;AO=147;CIGAR=1X;DP=1545;DPB=418;DPRA=0;EPP=191.633;EPPR=59.4604;GTI=0;LEN=1;MEANALT=3;MQM=20.9932;MQMR=28.1509;NS=1;NUMALT=1;ODDS=6.38956;PAIRED=0.829932;PAIREDR=0.592453;PAO=0;PQA=0;PQR=0;PRO=0;QA=2533;QR=6241;RO=265;RPL=88;RPP=15.4335;RPPR=103.971;RPR=59;RUN=1;SAF=105;SAP=61.6401;SAR=42;SF=0;SRF=98;SRP=42.0231;SRR=167;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3804;dpsi_zscore=0.998;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-45.6006,0,-308.476:418:265:147:2533:6241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-27.6221,0,-215.349:302:190:105:1739:4363 0/1:-40.0581,0,-318.658:438:280:148:2531:6691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-42.9655,0,-236.102:387:236:138:2362:5144 . . . . . . . . . . . . . . . . . . . . . . chr1 156105704 . G A 1238.54 . AB=0.347639;ABP=96.9707;AC=1;AF=0.5;AN=2;AO=162;CIGAR=1X;DP=466;DPB=466;DPRA=0;EPP=20.3821;EPPR=48.7485;GTI=0;LEN=1;MEANALT=3;MQM=27.4815;MQMR=26.0553;NS=1;NUMALT=1;ODDS=285.185;PAIRED=0.592593;PAIREDR=0.715415;PAO=0;PQA=0;PQR=0;PRO=0;QA=3735;QR=6860;RO=253;RPL=53;RPP=45.0457;RPPR=8.37461;RPR=109;RUN=1;SAF=60;SAP=26.6552;SAR=102;SF=0;SRF=116;SRP=6.79536;SRR=137;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon6:c.G613A:p.E205K,LMNA:NM_001282626:exon6:c.G949A:p.E317K,LMNA:NM_005572:exon6:c.G949A:p.E317K,LMNA:NM_170707:exon6:c.G949A:p.E317K,LMNA:NM_170708:exon6:c.G949A:p.E317K,LMNA:NM_001282624:exon7:c.G706A:p.E236K,LMNA:NM_001282625:exon9:c.G949A:p.E317K;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs56816490;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=57257;CLNDN=Primary_dilated_cardiomyopathy|Charcot-Marie-Tooth_disease,_type_2|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN043576|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;SIFT_score=0.082;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.095;MutationAssessor_pred=M;FATHMM_score=-2.76;FATHMM_pred=D;PROVEAN_score=-3.2;PROVEAN_pred=D;VEST3_score=0.979;CADD_raw=7.086;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=0.876;MetaSVM_pred=D;MetaLR_score=0.865;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=17.261;GDI_full_10282015=.;dpsi_max_tissue=0.1271;dpsi_zscore=0.560;hgmdCODING=HGMD::Cardiomyopathy,_dilated#11897440;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM022423#"Cardiomyopathy_dilated";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.669e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-143.611,0,-321.67:466:253:162:3735:6860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156105928 . G A 3467.41 . AB=0.397878;ABP=37.1606;AC=29;AF=0.5;AN=54;AO=150;CIGAR=1X;DP=12816;DPB=377;DPRA=0;EPP=3.93679;EPPR=3.87675;GTI=0;LEN=1;MEANALT=3;MQM=26.1467;MQMR=27.8768;NS=1;NUMALT=1;ODDS=324.843;PAIRED=0.766667;PAIREDR=0.753695;PAO=0;PQA=0;PQR=0;PRO=0;QA=4061;QR=5916;RO=203;RPL=80;RPP=4.45795;RPPR=3.10657;RPR=70;RUN=1;SAF=47;SAP=48.4085;SAR=103;SF=0,1;SRF=74;SRP=35.3684;SRR=129;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1975;esp6500siv2_ea=0.0748;esp6500siv2_all=0.1975;esp6500siv2_ea=0.0748;1000g2015aug_all=0.192292;avsnp147=rs534807;Kaviar_AF=0.10364;Kaviar_AC=16023;Kaviar_AN=154602;ExAC_ALL=0.1077;ExAC_AFR=0.4537;ExAC_AMR=0.0614;ExAC_EAS=0.0202;ExAC_FIN=0.0542;ExAC_NFE=0.0733;ExAC_OTH=0.0959;ExAC_SAS=0.1303;CLNALLELEID=45136;CLNDN=Primary_dilated_cardiomyopathy|not_specified|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2885;dpsi_zscore=0.874;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0997;gnomAD_exome_AFR=0.4598;gnomAD_exome_AMR=0.0644;gnomAD_exome_ASJ=0.1298;gnomAD_exome_EAS=0.0192;gnomAD_exome_FIN=0.0551;gnomAD_exome_NFE=0.0713;gnomAD_exome_OTH=0.0936;gnomAD_exome_SAS=0.1317;gnomAD_genome_ALL=0.1732;gnomAD_genome_AFR=0.4440;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.0198;gnomAD_genome_FIN=0.0676;gnomAD_genome_NFE=0.0704;gnomAD_genome_OTH=0.0776;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-153.896,0,-286.981:377:203:150:4061:5916 . 0/1:-252.519,0,-341.585:426:210:201:5571:6496 . 0/1:-230.868,0,-408.424:484:266:200:5554:7914 . 0/1:-160.613,0,-357.461:423:240:164:4332:7367 . 0/1:-230.585,0,-349.921:501:265:206:5735:7718 . . . . 0/1:-174.129,0,-269.921:344:188:144:4083:5740 . . . . . . . . . . . . . 0/1:-220.372,0,-390.155:490:252:212:5667:7852 . . . . . . . . . 0/1:-224.547,0,-325.506:429:227:180:5034:6787 . . 0/1:-355.943,0,-444.406:622:292:283:7593:8960 . . . . . 0/1:-305.746,0,-383.627:536:263:251:6604:7853 0/1:-173.294,0,-300.919:333:183:137:3807:5501 . 0/1:-377.394,0,-437.272:624:289:307:8325:8786 . 0/1:-236.127,0,-322.19:466:234:199:5273:6742 . . . 0/1:-186.245,0,-303.977:391:208:163:4480:6077 . . . 0/1:-341.575,0,-454.368:642:321:290:7558:9405 . 0/1:-360.412,0,-496.833:703:349:308:8179:10348 . 0/1:-148.682,0,-230.574:330:171:141:3659:4825 . . 0/1:-100.824,0,-168.97:237:125:95:2519:3690 . . . . . . . . . . . . 0/1:-161.79,0,-184.695:293:132:139:3815:3839 . . . . . . 0/1:-172.659,0,-284.693:377:195:152:4243:5884 . 0/1:-154.887,0,-189.664:317:143:151:3803:4077 . 0/1:-297.602,0,-601.951:670:367:271:7197:11141 0/1:-255.736,0,-351.142:520:254:231:5953:7574 . 1/1:-861.191,-110.277,0:580:23:507:13793:741 0/1:-213.687,0,-485.965:591:335:220:5525:10037 . . . . . . . . 1/1:-1342.36,-128.692,0:593:18:554:17024:525:18,554 . . . . . . . . . 0/1:-447.212,0,-496.542:517:263:249:7486:8099:263,249 . . chr1 156106161 . G A 4510.96 . AB=0.479245;ABP=4.9933;AC=1;AF=0.5;AN=2;AO=254;CIGAR=1X;DP=530;DPB=530;DPRA=0;EPP=78.5502;EPPR=49.8093;GTI=0;LEN=1;MEANALT=3;MQM=39.1339;MQMR=39.2069;NS=1;NUMALT=1;ODDS=1038.69;PAIRED=0.952756;PAIREDR=0.942529;PAO=0;PQA=0;PQR=0;PRO=0;QA=7427;QR=7946;RO=261;RPL=160;RPP=40.2502;RPPR=87.8808;RPR=94;RUN=1;SAF=88;SAP=55.023;SAR=166;SF=1;SRF=88;SRP=63.121;SRR=173;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon7:c.G978A:p.G326G,LMNA:NM_001282626:exon7:c.G1314A:p.G438G,LMNA:NM_005572:exon7:c.G1314A:p.G438G,LMNA:NM_170707:exon7:c.G1314A:p.G438G,LMNA:NM_170708:exon7:c.G1314A:p.G438G,LMNA:NM_001282624:exon8:c.G1071A:p.G357G,LMNA:NM_001282625:exon10:c.G1314A:p.G438G;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774817302;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=274897;CLNDN=Charcot-Marie-Tooth_disease,_type_2|not_specified;CLNDISDB=MedGen:CN043576|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1057;dpsi_zscore=0.501;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.41e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-475.195,0,-522.74:530:261:254:7427:7946:261,254 . . . . . . . . . . . . . . . . . . . chr1 156106181 . TGGAT TGGAC,GGGAT 836.72 . AB=0;ABP=0;AC=2,0;AF=0;AN=30;AO=22;CIGAR=1X;DP=4649;DPB=406;DPRA=0;EPP=4.58955;EPPR=5.80549;GTI=0;LEN=1;MEANALT=3;MQM=38.3636;MQMR=39.492;NS=1;NUMALT=1;ODDS=414.212;PAIRED=0.863636;PAIREDR=0.973404;PAO=0;PQA=0;PQR=0;PRO=0;QA=355;QR=10301;RO=376;RPL=12;RPP=3.40511;RPPR=243.351;RPR=10;RUN=1;SAF=3;SAP=28.2783;SAR=19;SF=1;SRF=121;SRP=106.71;SRR=255;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=LMNA:NM_001257374:exon7:c.1002delT:p.D334fs,LMNA:NM_001282626:exon7:c.1338delT:p.D446fs,LMNA:NM_005572:exon7:c.1338delT:p.D446fs,LMNA:NM_170707:exon7:c.1338delT:p.D446fs,LMNA:NM_170708:exon7:c.1338delT:p.D446fs,LMNA:NM_001282624:exon8:c.1095delT:p.D365fs,LMNA:NM_001282625:exon10:c.1338delT:p.D446fs;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon7:c.T998G:p.V333G,LMNA:NM_001282626:exon7:c.T1334G:p.V445G,LMNA:NM_005572:exon7:c.T1334G:p.V445G,LMNA:NM_170707:exon7:c.T1334G:p.V445G,LMNA:NM_170708:exon7:c.T1334G:p.V445G,LMNA:NM_001282624:exon8:c.T1091G:p.V364G,LMNA:NM_001282625:exon10:c.T1334G:p.V445G;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.981;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.61;MutationAssessor_pred=M;FATHMM_score=-5.05;FATHMM_pred=D;PROVEAN_score=-6.24;PROVEAN_pred=D;VEST3_score=0.949;CADD_raw=5.610;CADD_phred=26.5;DANN_score=0.997;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=1.105;MetaSVM_pred=D;MetaLR_score=0.965;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=13.996;GDI_full_10282015=.;dpsi_max_tissue=-0.3135;dpsi_zscore=-0.873;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-848.265:406:376:.,22:.,355:10301:376,22 . . 0/0:.,.,.,.,.,-380.712:204:185:.,18:.,335:4862:185,18 0/0:.,.,.,.,.,-524.191:276:252:.,23:.,404:6609:252,23 0/0:.,.,.,.,.,-838.433:429:388:.,34:.,565:10389:388,34 0/0:.,.,.,.,.,-602.879:315:285:.,28:.,489:7511:285,28 1/1:-695.427,-71.2949,0,.,.,.:320:4:268,.:8338,.:119:4,268 . 0/0:.,.,.,.,.,-787.918:394:360:.,27:.,528:9620:360,27 0/0:.,.,.,.,.,-649.1:306:284:.,18:.,303:7801:284,18 0/0:.,.,.,.,.,-458.416:228:209:.,18:.,316:5595:209,18 0/0:.,.,.,.,.,-515.346:258:239:.,16:.,314:6247:239,16 0/0:.,.,.,.,.,-500.495:261:236:.,21:.,388:6178:236,21 0/0:.,.,.,.,.,-805.549:392:366:.,22:.,422:9885:366,22 0/0:.,.,.,.,.,-594.726:289:270:.,16:.,299:7249:270,16 0/0:.,.,.,.,.,-668.817:338:306:.,24:.,428:8290:306,24 . 0/0:.,.,.,.,.,-476.202:233:214:.,18:.,333:5799:214,18 . chr1 156106185 . T C,G 1787.41 . AB=0.438662;ABP=11.8011;AC=28,0;AF=0.5;AN=58;AO=118;CIGAR=1X;DP=7439;DPB=269;DPRA=0;EPP=3.08391;EPPR=3.62103;GTI=0;LEN=1;MEANALT=3;MQM=34.1695;MQMR=32.7891;NS=1;NUMALT=1;ODDS=347.513;PAIRED=0.991525;PAIREDR=0.945312;PAO=0;PQA=0;PQR=0;PRO=0;QA=3229;QR=3213;RO=128;RPL=85;RPP=52.7701;RPPR=72.4974;RPR=33;RUN=1;SAF=27;SAP=78.3862;SAR=91;SF=0,1;SRF=31;SRP=76.9082;SRR=97;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon7:c.T1002C:p.D334D,LMNA:NM_001282626:exon7:c.T1338C:p.D446D,LMNA:NM_005572:exon7:c.T1338C:p.D446D,LMNA:NM_170707:exon7:c.T1338C:p.D446D,LMNA:NM_170708:exon7:c.T1338C:p.D446D,LMNA:NM_001282624:exon8:c.T1095C:p.D365D,LMNA:NM_001282625:exon10:c.T1338C:p.D446D;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.2541;esp6500siv2_ea=0.0760;esp6500siv2_all=0.2541;esp6500siv2_ea=0.0760;1000g2015aug_all=0.249201;avsnp147=rs505058;Kaviar_AF=0.120911;Kaviar_AC=18693;Kaviar_AN=154602;ExAC_ALL=0.1611;ExAC_AFR=0.6488;ExAC_AMR=0.1012;ExAC_EAS=0.0307;ExAC_FIN=0.0810;ExAC_NFE=0.0978;ExAC_OTH=0.1407;ExAC_SAS=0.1609;CLNALLELEID=57201;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2650;dpsi_zscore=0.838;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1150;gnomAD_exome_AFR=0.6407;gnomAD_exome_AMR=0.0743;gnomAD_exome_ASJ=0.1320;gnomAD_exome_EAS=0.0198;gnomAD_exome_FIN=0.0560;gnomAD_exome_NFE=0.0734;gnomAD_exome_OTH=0.1030;gnomAD_exome_SAS=0.1430;gnomAD_genome_ALL=0.2261;gnomAD_genome_AFR=0.6254;gnomAD_genome_AMR=0.0883;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0198;gnomAD_genome_FIN=0.0685;gnomAD_genome_NFE=0.0717;gnomAD_genome_OTH=0.0937;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon7:c.T1002G:p.D334E,LMNA:NM_001282626:exon7:c.T1338G:p.D446E,LMNA:NM_005572:exon7:c.T1338G:p.D446E,LMNA:NM_170707:exon7:c.T1338G:p.D446E,LMNA:NM_170708:exon7:c.T1338G:p.D446E,LMNA:NM_001282624:exon8:c.T1095G:p.D365E,LMNA:NM_001282625:exon10:c.T1338G:p.D446E;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs505058;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.133e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.106e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.835;MutationAssessor_pred=M;FATHMM_score=-5.29;FATHMM_pred=D;PROVEAN_score=-3.73;PROVEAN_pred=D;VEST3_score=0.84;CADD_raw=4.935;CADD_phred=25.0;DANN_score=0.996;fathmm-MKL_coding_score=0.536;fathmm-MKL_coding_pred=D;MetaSVM_score=1.113;MetaSVM_pred=D;MetaLR_score=0.965;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-5.0;phyloP7way_vertebrate=-0.534;phyloP20way_mammalian=-1.339;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=16.492;GDI_full_10282015=.;dpsi_max_tissue=-0.0767;dpsi_zscore=-0.373;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.238e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.45e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-181.531,0,-172.025,.,.,.:269:128:118,.:3229,.:3213 . 0/1:-136.425,0,-111.766,.,.,.:185:81:95,.:2598,.:2199 . 0/1:-188.262,0,-210.342,.,.,.:299:151:132,.:3672,.:3749 . 0/1:-132.03,0,-167.179,.,.,.:242:119:105,.:2893,.:3213 . 0/1:-196.622,0,-156.779,.,.,.:249:111:119,.:3254,.:2765 . . . . 0/1:-149.302,0,-156.295,.,.,.:245:114:117,.:3038,.:2907 . . . . . . . . . . . . . 0/1:-205.166,0,-173.906,.,.,.:265:117:130,.:3434,.:3258 . 0/1:-174.412,0,-168.62,.,.,.:240:117:113,.:3103,.:2948 . . . . . . . 0/1:-176.861,0,-111.286,.,.,.:211:85:108,.:2937,.:2271 . . 0/1:-219.902,0,-195.224,.,.,.:283:123:142,.:3824,.:3450 . . . . . . 0/1:-103.39,0,-149.266,.,.,.:177:99:73,.:1930,.:2546 . 0/1:-267.242,0,-214.506,.,.,.:360:156:175,.:4644,.:4051 . 0/1:-119.348,0,-187.896,.,.,.:237:125:94,.:2476,.:3282 . . . 0/1:-122.293,0,-195.693,.,.,.:240:133:94,.:2457,.:3328 . . . 0/1:-212.352,0,-238.454,.,.,.:337:157:151,.:3863,.:4080 . 0/1:-296.032,0,-284.758,.,.,.:403:188:189,.:5197,.:4898 . 0/1:-103.097,0,-101.053,.,.,.:174:79:78,.:2046,.:1987 . . 0/1:-79.4228,0,-107.098,.,.,.:148:74:62,.:1628,.:1936 . . . . . . . . . . . . 0/1:-91.5956,0,-136.238,.,.,.:161:81:66,.:1711,.:2350 . 0/1:-233.273,0,-262.514,.,.,.:359:178:161,.:4330,.:4517 . . . . 0/1:-108.688,0,-145.321,.,.,.:176:93:74,.:2068,.:2426 . 0/1:-151.383,0,-53.2626,.,.,.:155:50:94,.:2460,.:1255 . 0/1:-261.329,0,-231.984,.,.,.:375:165:182,.:4682,.:4263 0/1:-178.64,0,-172.295,.,.,.:261:121:123,.:3320,.:3095 . 1/1:-627.544,-80.8277,0,.,.,.:331:7:313,.:8321,.:186 0/1:-199.046,0,-249.416,.,.,.:317:161:135,.:3752,.:4246 . . . 0/0:0,.,.,-59.8574,.,-630.01:279:262:.,14:.,266:7624:262,14 . . . . . . . . . . . . . . 0/1:-241.861,0,-211.488,.,.,.:237:115:116,.:3651,.:3283:115,116 0/0:0,.,.,-46.7235,.,-503.941:224:210:.,12:.,225:5987:210,12 . chr1 156106827 . G A 6935.35 . AB=0.424623;ABP=61.9347;AC=1;AF=0.5;AN=2;AO=507;CIGAR=1X;DP=1194;DPB=1194;DPRA=0;EPP=3.97397;EPPR=7.28005;GTI=0;LEN=1;MEANALT=3;MQM=32.4221;MQMR=33.1477;NS=1;NUMALT=1;ODDS=1596.92;PAIRED=0.899408;PAIREDR=0.895666;PAO=0;PQA=0;PQR=0;PRO=0;QA=13806;QR=19159;RO=623;RPL=298;RPP=36.9358;RPPR=18.6568;RPR=209;RUN=1;SAF=236;SAP=8.25695;SAR=271;SF=0;SRF=311;SRP=3.01379;SRR=312;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762836610;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.513e-05;ExAC_OTH=0;ExAC_SAS=0.0013;CLNALLELEID=228278;CLNDN=Charcot-Marie-Tooth_disease,_type_2|not_specified;CLNDISDB=MedGen:CN043576|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1403;dpsi_zscore=0.594;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.688e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-708.124,0,-1101.86:1194:623:507:13806:19159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156106964 . C T 4651.93 . AB=0.477778;ABP=6.09862;AC=1;AF=0.5;AN=2;AO=344;CIGAR=1X;DP=720;DPB=720;DPRA=0;EPP=18.7913;EPPR=6.60446;GTI=0;LEN=1;MEANALT=3;MQM=31.4302;MQMR=32.1207;NS=1;NUMALT=1;ODDS=1071.15;PAIRED=0.898256;PAIREDR=0.899425;PAO=0;PQA=0;PQR=0;PRO=0;QA=9321;QR=10898;RO=348;RPL=242;RPP=126.734;RPPR=58.1457;RPR=102;RUN=1;SAF=165;SAP=4.24753;SAR=179;SF=0;SRF=169;SRP=3.63429;SRR=179;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=LMNA:NM_001257374:exon9:c.C1213T:p.Q405X,LMNA:NM_001282626:exon9:c.C1549T:p.Q517X,LMNA:NM_005572:exon9:c.C1549T:p.Q517X,LMNA:NM_170707:exon9:c.C1549T:p.Q517X,LMNA:NM_170708:exon9:c.C1549T:p.Q517X,LMNA:NM_001282624:exon10:c.C1306T:p.Q436X,LMNA:NM_001282625:exon12:c.C1549T:p.Q517X;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=13.679;CADD_phred=43;DANN_score=0.997;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=17.320;GDI_full_10282015=.;dpsi_max_tissue=-17.4708;dpsi_zscore=-3.132;hgmdCODING=HGMD::Cardiomyopathy,_dilated#22224630;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1210612#"Cardiomyopathy_dilated";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-487.218,0,-590.67:720:348:344:9321:10898 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156107534 . C T 12159.32 . AB=0.446163;ABP=46.9671;AC=50;AF=0.5;AN=94;AO=779;CIGAR=1X;DP=69788;DPB=1746;DPRA=0;EPP=64.8959;EPPR=34.7901;GTI=0;LEN=1;MEANALT=3;MQM=34.9409;MQMR=34.5968;NS=1;NUMALT=1;ODDS=2705.73;PAIRED=0.883184;PAIREDR=0.882883;PAO=0;PQA=0;PQR=0;PRO=0;QA=21882;QR=27102;RO=888;RPL=571;RPP=370.318;RPPR=165.783;RPR=208;RUN=1;SAF=377;SAP=4.7525;SAR=402;SF=0,1;SRF=472;SRP=10.6789;SRR=416;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H\x3bLMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1970;esp6500siv2_ea=0.2531;esp6500siv2_all=0.1970;esp6500siv2_ea=0.2531;1000g2015aug_all=0.220248;avsnp147=rs4641;Kaviar_AF=0.116195;Kaviar_AC=17964;Kaviar_AN=154602;ExAC_ALL=0.2655;ExAC_AFR=0.0998;ExAC_AMR=0.3660;ExAC_EAS=0.3081;ExAC_FIN=0.25;ExAC_NFE=0.2817;ExAC_OTH=0.3297;ExAC_SAS=0.2943;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8285;dpsi_zscore=1.912;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM003892#"Metabolic_syndrome_association_with";gnomAD_exome_ALL=0.2634;gnomAD_exome_AFR=0.0905;gnomAD_exome_AMR=0.3240;gnomAD_exome_ASJ=0.3013;gnomAD_exome_EAS=0.2656;gnomAD_exome_FIN=0.1728;gnomAD_exome_NFE=0.2649;gnomAD_exome_OTH=0.2734;gnomAD_exome_SAS=0.2926;gnomAD_genome_ALL=0.1960;gnomAD_genome_AFR=0.0919;gnomAD_genome_AMR=0.2912;gnomAD_genome_ASJ=0.23;gnomAD_genome_EAS=0.2466;gnomAD_genome_FIN=0.1742;gnomAD_genome_NFE=0.2486;gnomAD_genome_OTH=0.2220;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1229.5,0,-1607.67:1746:888:779:21882:27102 . 0/1:-664.411,0,-898.293:970:485:435:12010:14823 . . . 0/1:-1154.97,0,-1757.58:1767:924:772:21231:28823 . 0/1:-1172,0,-1641.79:1688:871:753:20837:27037 . . . . . 0/1:-1381,0,-2076.46:2043:1080:893:24867:33535 . . . 0/1:-791.247,0,-1048.32:1141:559:525:14451:17132 0/1:-697.106,0,-1039.58:1055:556:450:12509:16969 . 0/1:-625.028,0,-698.943:838:394:395:11004:12160 . 0/1:-1168.11,0,-1633.79:1689:864:770:20741:26882 0/1:-804.036,0,-1080.66:1190:604:533:14930:18486 . . 0/1:-724.142,0,-1102.26:1147:614:491:13841:18769 . . . 0/1:-1267.32,0,-1510.23:1680:823:783:22197:25270 . . . 1/1:-4118.08,-496.7,0:2031:36:1880:52511:959 . . 0/1:-802.445,0,-1060.87:1100:563:500:13984:17367 0/1:-1206.89,0,-1542.77:1612:802:754:20743:25009 . . 0/1:-847.072,0,-1429.34:1326:722:552:15950:22787 . . . . 0/1:-641.43,0,-1238.91:1138:650:448:12519:20012 . 1/1:-3397.42,-410.379,0:1672:32:1550:43507:833 . 0/1:-1294.07,0,-1457.96:1669:791:816:22529:24662 0/1:-1236.49,0,-1743.56:1844:937:823:22631:28918 0/1:-899.521,0,-850.104:1096:508:541:15428:15384 . . 0/1:-512.56,0,-967.965:959:525:386:10354:15918 . . 0/1:-696.325,0,-871.058:958:473:449:12636:14800 0/1:-1388.66,0,-1833.22:1922:978:870:24333:30143 . 0/1:-574.223,0,-1093.18:1022:576:406:10943:17657 0/1:-1218.84,0,-1800.87:1808:939:796:22113:29527 0/1:-1073.46,0,-1418.04:1514:784:685:19091:23666 0/1:-602.968,0,-728.297:858:437:395:10749:13084 . . . 0/1:-1033.69,0,-1331.93:1369:706:614:17600:21705 0/1:-1412.5,0,-1947.95:2010:1038:891:24857:31875 . . 0/1:-869.582,0,-1226.3:1276:664:567:15723:20438 . . 0/1:-1239.17,0,-1673.92:1766:891:806:22421:27664 . . 0/1:-1045.97,0,-1524.65:1624:828:705:19591:25542 . 0/1:-1190.54,0,-1702.21:1757:917:772:21283:28129 . 1/1:-2534.88,-292.979,0:1296:34:1189:33090:912 0/1:-1021.15,0,-1282.05:1384:689:648:18029:21284 0/1:-757.692,0,-1162.19:1135:605:492:13870:18555 . . . . 0/1:-865.978,0,-1253.75:1273:671:562:15854:20697 0/1:-1342.56,0,-1904.25:1927:1001:853:23558:30935 . . . 0/1:-1788.71,0,-1799.49:1765:853:884:26929:27014:853,884 . 0/1:-2051.43,0,-1972.94:1926:913:995:30713:29532:913,995 0/1:-1144.11,0,-1234.37:1187:588:576:17535:18524:588,576 . . . . . 0/1:-2121.9,0,-2140.6:2085:1006:1046:32204:31927:1006,1046 . 0/1:-1409.9,0,-1440.81:1361:664:676:20950:21442:664,676 0/1:-1511.91,0,-1651.98:1538:769:745:22900:24549:769,745 . . . 0/1:-1720.46,0,-2058.92:1861:964:863:26510:30516:964,863 . . 0/1:-1680.93,0,-1996.96:1765:917:827:25717:29244:917,827 chr1 156107534 . C T 16376.55 . AB=0.50085;ABP=3.02137;AC=8;AF=0.5;AN=16;AO=884;CIGAR=1X;DP=13488;DPB=1765;DPRA=0;EPP=43.2562;EPPR=70.6467;GTI=0;LEN=1;MEANALT=3;MQM=39.7534;MQMR=40.1852;NS=1;NUMALT=1;ODDS=4005.79;PAIRED=0.966063;PAIREDR=0.961313;PAO=0;PQA=0;PQR=0;PRO=0;QA=26929;QR=27014;RO=853;RPL=631;RPP=353.993;RPPR=221.555;RPR=253;RUN=1;SAF=427;SAP=5.22108;SAR=457;SF=1;SRF=445;SRP=6.49535;SRR=408;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H\x3bLMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1970;esp6500siv2_ea=0.2531;esp6500siv2_all=0.1970;esp6500siv2_ea=0.2531;1000g2015aug_all=0.220248;avsnp147=rs4641;Kaviar_AF=0.116195;Kaviar_AC=17964;Kaviar_AN=154602;ExAC_ALL=0.2655;ExAC_AFR=0.0998;ExAC_AMR=0.3660;ExAC_EAS=0.3081;ExAC_FIN=0.25;ExAC_NFE=0.2817;ExAC_OTH=0.3297;ExAC_SAS=0.2943;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8285;dpsi_zscore=1.912;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM003892#"Metabolic_syndrome_association_with";gnomAD_exome_ALL=0.2634;gnomAD_exome_AFR=0.0905;gnomAD_exome_AMR=0.3240;gnomAD_exome_ASJ=0.3013;gnomAD_exome_EAS=0.2656;gnomAD_exome_FIN=0.1728;gnomAD_exome_NFE=0.2649;gnomAD_exome_OTH=0.2734;gnomAD_exome_SAS=0.2926;gnomAD_genome_ALL=0.1960;gnomAD_genome_AFR=0.0919;gnomAD_genome_AMR=0.2912;gnomAD_genome_ASJ=0.23;gnomAD_genome_EAS=0.2466;gnomAD_genome_FIN=0.1742;gnomAD_genome_NFE=0.2486;gnomAD_genome_OTH=0.2220;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1788.71,0,-1799.49:1765:853:884:26929:27014:853,884 . 0/1:-2051.43,0,-1972.94:1926:913:995:30713:29532:913,995 0/1:-1144.11,0,-1234.37:1187:588:576:17535:18524:588,576 . . . . . 0/1:-2121.9,0,-2140.6:2085:1006:1046:32204:31927:1006,1046 . 0/1:-1409.9,0,-1440.81:1361:664:676:20950:21442:664,676 0/1:-1511.91,0,-1651.98:1538:769:745:22900:24549:769,745 . . . 0/1:-1720.46,0,-2058.92:1861:964:863:26510:30516:964,863 . . 0/1:-1680.93,0,-1996.96:1765:917:827:25717:29244:917,827 chr1 156108298 . C T 1377.77 . AB=0.472414;ABP=4.92719;AC=1;AF=0.5;AN=2;AO=137;CIGAR=1X;DP=290;DPB=290;DPRA=0;EPP=11.395;EPPR=3.56081;GTI=0;LEN=1;MEANALT=3;MQM=28.854;MQMR=31.7254;NS=1;NUMALT=1;ODDS=317.242;PAIRED=0.839416;PAIREDR=0.84507;PAO=0;PQA=0;PQR=0;PRO=0;QA=3371;QR=4480;RO=142;RPL=65;RPP=3.78696;RPPR=6.00754;RPR=72;RUN=1;SAF=77;SAP=7.591;SAR=60;SF=0;SRF=78;SRP=6.00754;SRR=64;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_170708:exon10:c.C1628T:p.S543L,LMNA:NM_001257374:exon11:c.C1382T:p.S461L,LMNA:NM_001282626:exon11:c.C1718T:p.S573L,LMNA:NM_170707:exon11:c.C1718T:p.S573L;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs60890628;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=9.386e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=6.624e-05;CLNALLELEID=29556;CLNDN=Dilated_cardiomyopathy_1A|Familial_partial_lipodystrophy_2|Mandibuloacral_dysplasia_with_type_A_lipodystrophy,_atypical|Charcot-Marie-Tooth_disease,_type_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN043412|MedGen:CN043576|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.021;SIFT_pred=D;Polyphen2_HDIV_score=0.981;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.391;Polyphen2_HVAR_pred=B;LRT_score=0.156;LRT_pred=N;MutationTaster_score=0.973;MutationTaster_pred=A;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-1.85;FATHMM_pred=D;PROVEAN_score=-0.53;PROVEAN_pred=N;VEST3_score=0.831;CADD_raw=4.715;CADD_phred=24.6;DANN_score=0.998;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_pred=D;MetaSVM_score=0.191;MetaSVM_pred=D;MetaLR_score=0.553;MetaLR_pred=D;integrated_fitCons_score=0.632;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.596;GDI_full_10282015=.;dpsi_max_tissue=-1.8710;dpsi_zscore=-1.858;hgmdCODING=HGMD::Cardiomyopathy,_dilated#12628721;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM033087#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=9.803e-05;gnomAD_genome_ALL=9.699e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.675e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-145.988,0,-246.814:290:142:137:3371:4480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 156108976 . G C 2203.17 . AB=0.415179;ABP=17.0085;AC=31;AF=0.5;AN=58;AO=93;CIGAR=1X;DP=8215;DPB=224;DPRA=0;EPP=3.59403;EPPR=11.486;GTI=0;LEN=1;MEANALT=3;MQM=28.7204;MQMR=29.6532;NS=1;NUMALT=1;ODDS=214.801;PAIRED=0.967742;PAIREDR=0.887097;PAO=0;PQA=0;PQR=0;PRO=0;QA=2517;QR=3713;RO=124;RPL=74;RPP=73.6415;RPPR=36.9133;RPR=19;RUN=1;SAF=31;SAP=25.4488;SAR=62;SF=0,1;SRF=41;SRP=33.9012;SRR=83;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_001282626:c.*79G>C,NM_170707:c.*79G>C,NM_170708:c.*79G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1767;esp6500siv2_ea=0.0773;esp6500siv2_all=0.1767;esp6500siv2_ea=0.0773;1000g2015aug_all=0.185304;avsnp147=rs7339;Kaviar_AF=0.0188031;Kaviar_AC=2907;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=77653;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5319;dpsi_zscore=1.792;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1680;gnomAD_genome_AFR=0.4229;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0198;gnomAD_genome_FIN=0.0687;gnomAD_genome_NFE=0.0708;gnomAD_genome_OTH=0.0820;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-109.839,0,-190.886:224:124:93:2517:3713 . 0/1:-172.591,0,-222.753:298:150:141:3807:4480 . 0/1:-185.554,0,-214.659:289:140:133:3738:4093 . 0/1:-175.188,0,-199.574:260:127:126:3457:3750 . 0/1:-167.319,0,-198.661:270:130:134:3608:3813 . . . . 0/1:-112.624,0,-206.743:234:132:90:2512:3980 . . . . . . . . . . . . . 0/1:-120.625,0,-296.866:285:171:106:2802:5196 . 0/1:-139.015,0,-193.578:248:130:112:3041:3705 . . . . . . . 0/1:-209.676,0,-176.238:265:109:146:4066:3346 . . 0/1:-169.199,0,-251.419:290:156:129:3802:4406 . . . . . 0/1:-212.555,0,-246.299:323:158:156:4353:4791 0/1:-127.129,0,-131.401:183:86:94:2531:2534 . 0/1:-179.525,0,-253.619:285:154:121:3577:4674 . 0/1:-188.492,0,-217.293:313:145:162:4359:4481 . . . 0/1:-150.028,0,-194.44:228:113:108:3089:3463 . . . 0/1:-265.59,0,-243.372:333:156:171:5033:4740 . 0/1:-220.494,0,-315.498:389:197:174:4731:6035 . 0/1:-178.288,0,-190.534:295:142:139:3651:3930 . . 0/1:-113.874,0,-145.139:200:100:95:2448:2865 . . . . . . . . . . . . 0/1:-66.6328,0,-141.175:171:97:70:1822:2785 . 0/1:-203.513,0,-346.915:390:216:165:4398:6364 . . . . 0/1:-179.29,0,-174.067:257:114:133:3608:3400 . 0/1:-142.619,0,-134.39:206:95:107:2890:2804 . 0/1:-241.301,0,-313.441:374:196:168:4989:6140 0/1:-128.377,0,-248.157:274:155:110:3041:4620 . 1/1:-491.129,-60.3673,0:294:16:265:7232:440 0/1:-262.36,0,-325.367:426:223:190:5523:6759 . . . . . . . . 1/1:-782.826,-63.8412,0:356:17:325:10018:492:17,325 . . . . . . . . . 0/1:-240.314,0,-252.626:255:123:125:3888:3906:123,125 . . chr1 156108976 . G C 4863.92 . AB=0;ABP=0;AC=3;AF=1;AN=4;AO=325;CIGAR=1X;DP=611;DPB=356;DPRA=0;EPP=5.4223;EPPR=9.26925;GTI=0;LEN=1;MEANALT=3;MQM=36.6892;MQMR=35.3529;NS=1;NUMALT=1;ODDS=332.126;PAIRED=0.907692;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10018;QR=492;RO=17;RPL=215;RPP=76.6733;RPPR=3.13803;RPR=110;RUN=1;SAF=70;SAP=231.683;SAR=255;SF=1;SRF=4;SRP=13.3567;SRR=13;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_001282626:c.*79G>C,NM_170707:c.*79G>C,NM_170708:c.*79G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1767;esp6500siv2_ea=0.0773;esp6500siv2_all=0.1767;esp6500siv2_ea=0.0773;1000g2015aug_all=0.185304;avsnp147=rs7339;Kaviar_AF=0.0188031;Kaviar_AC=2907;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=77653;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5319;dpsi_zscore=1.792;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1680;gnomAD_genome_AFR=0.4229;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0198;gnomAD_genome_FIN=0.0687;gnomAD_genome_NFE=0.0708;gnomAD_genome_OTH=0.0820;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-782.826,-63.8412,0:356:17:325:10018:492:17,325 . . . . . . . . . 0/1:-240.314,0,-252.626:255:123:125:3888:3906:123,125 . . chr1 156109536 . G A 5170.82 . AB=0.474849;ABP=11.2025;AC=5;AF=0.5;AN=10;AO=708;CIGAR=1X;DP=4824;DPB=1491;DPRA=0;EPP=4.00402;EPPR=3.05725;GTI=0;LEN=1;MEANALT=3;MQM=31.5551;MQMR=33.1392;NS=1;NUMALT=1;ODDS=2072.23;PAIRED=0.690678;PAIREDR=0.728378;PAO=0;PQA=0;PQR=0;PRO=0;QA=19404;QR=22574;RO=740;RPL=92;RPP=845.149;RPPR=858.688;RPR=616;RUN=1;SAF=281;SAP=68.3876;SAR=427;SF=0;SRF=314;SRP=39.8197;SRR=426;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_001282626:c.*639G>A,NM_170707:c.*639G>A,NM_170708:c.*639G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00319489;avsnp147=rs185169879;Kaviar_AF=0.0024126;Kaviar_AC=373;Kaviar_AN=154602;ExAC_ALL=0.0083;ExAC_AFR=0.0053;ExAC_AMR=0.0109;ExAC_EAS=0.0074;ExAC_FIN=.;ExAC_NFE=0.0189;ExAC_OTH=0;ExAC_SAS=0.0047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0089;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0070;gnomAD_exome_ASJ=0.0163;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0051;gnomAD_exome_NFE=0.0141;gnomAD_exome_OTH=0.0092;gnomAD_exome_SAS=0.0037;gnomAD_genome_ALL=0.0067;gnomAD_genome_AFR=0.0020;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0106;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-1009.22,0,-1275.37:1491:740:708:19404:22574 . . . . . . . . . . . . . . . . 0/1:-726.635,0,-804.64:1058:509:517:13890:15289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-309.839,0,-515.243:613:327:259:6920:9703 . . . . . . . . . . . . . . . . . . . . 0/1:-374.564,0,-755.099:787:461:305:8202:14099 0/1:-542.42,0,-725.804:875:440:417:10890:13421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 162257246 . A G 8741.66 . AB=0.462468;ABP=17.1914;AC=3;AF=0.5;AN=6;AO=536;CIGAR=1X;DP=3835;DPB=1159;DPRA=0;EPP=3.26958;EPPR=8.55024;GTI=0;LEN=1;MEANALT=3;MQM=37.1325;MQMR=38.1661;NS=1;NUMALT=1;ODDS=1827.43;PAIRED=0.979478;PAIREDR=0.980565;PAO=0;PQA=0;PQR=0;PRO=0;QA=14136;QR=16719;RO=566;RPL=270;RPP=3.07512;RPPR=22.8988;RPR=266;RUN=1;SAF=110;SAP=407.552;SAR=426;SF=0,1;SRF=123;SRP=395.87;SRR=443;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0174;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0174;1000g2015aug_all=0.00599042;avsnp147=rs7538260;Kaviar_AF=0.0117916;Kaviar_AC=1823;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0029;ExAC_AMR=0.0076;ExAC_EAS=0;ExAC_FIN=0.0070;ExAC_NFE=0.0179;ExAC_OTH=0.0132;ExAC_SAS=0.0038;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0072;dpsi_zscore=0.048;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0096;gnomAD_exome_ASJ=0.0237;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0071;gnomAD_exome_NFE=0.0175;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0040;gnomAD_genome_ALL=0.0083;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0128;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-844.967,0,-1066.58:1159:566:536:14136:16719 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-863.93,0,-1229.78:1272:634:577:14654:18861 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1279.32,0,-1444.43:1404:680:692:19628:21752:680,692 . . . . . . . . . . . . . . . . . chr1 162270463 . G A 15331.90 . AB=0.477798;ABP=10.2421;AC=1;AF=0.5;AN=2;AO=807;CIGAR=1X;DP=1689;DPB=1689;DPRA=0;EPP=65.9991;EPPR=62.4629;GTI=0;LEN=1;MEANALT=3;MQM=39.2007;MQMR=39.9006;NS=1;NUMALT=1;ODDS=3530.3;PAIRED=0.966543;PAIREDR=0.948538;PAO=0;PQA=0;PQR=0;PRO=0;QA=24428;QR=26699;RO=855;RPL=562;RPP=273.406;RPPR=288.032;RPR=245;RUN=1;SAF=423;SAP=7.103;SAR=384;SF=1;SRF=452;SRP=9.1082;SRR=403;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon4:c.G296A:p.S99N,NOS1AP:NM_014697:exon4:c.G311A:p.S104N\x3bNOS1AP:NM_001164757:exon4:c.G296A:p.S99N,NOS1AP:NM_014697:exon4:c.G311A:p.S104N;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0043;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0043;1000g2015aug_all=0.00239617;avsnp147=rs41271967;Kaviar_AF=0.0031824;Kaviar_AC=492;Kaviar_AN=154602;ExAC_ALL=0.0033;ExAC_AFR=0.0004;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0153;ExAC_NFE=0.0038;ExAC_OTH=0.0077;ExAC_SAS=0.0018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.372;SIFT_pred=T;Polyphen2_HDIV_score=0.053;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.969;MutationTaster_pred=D;MutationAssessor_score=2.065;MutationAssessor_pred=M;FATHMM_score=2.46;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_pred=N;VEST3_score=0.065;CADD_raw=2.037;CADD_phred=16.45;DANN_score=0.987;fathmm-MKL_coding_score=0.715;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.070;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_pred=T;integrated_fitCons_score=0.742;integrated_confidence_value=0;GERP++_RS=4.4;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.819;GDI_full_10282015=.;dpsi_max_tissue=0.2558;dpsi_zscore=0.822;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0153;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0018;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0155;gnomAD_genome_NFE=0.0048;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon4:c.G296A:p.S99N,NOS1AP:NM_014697:exon4:c.G311A:p.S104N\x3bNOS1AP:NM_001164757:exon4:c.G296A:p.S99N,NOS1AP:NM_014697:exon4:c.G311A:p.S104N;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0043;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0043;1000g2015aug_all=0.00239617;avsnp147=rs41271967;Kaviar_AF=0.0031824;Kaviar_AC=492;Kaviar_AN=154602;ExAC_ALL=0.0033;ExAC_AFR=0.0004;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0153;ExAC_NFE=0.0038;ExAC_OTH=0.0077;ExAC_SAS=0.0018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.372;SIFT_pred=T;Polyphen2_HDIV_score=0.053;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.969;MutationTaster_pred=D;MutationAssessor_score=2.065;MutationAssessor_pred=M;FATHMM_score=2.46;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_pred=N;VEST3_score=0.065;CADD_raw=2.037;CADD_phred=16.45;DANN_score=0.987;fathmm-MKL_coding_score=0.715;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.070;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_pred=T;integrated_fitCons_score=0.742;integrated_confidence_value=0;GERP++_RS=4.4;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.819;GDI_full_10282015=.;dpsi_max_tissue=0.2558;dpsi_zscore=0.822;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0153;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0018;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0155;gnomAD_genome_NFE=0.0048;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1576.34,0,-1787.62:1689:855:807:24428:26699:855,807 . . . . . . . . . . . . chr1 162302846 . C T 5566.72 . AB=0.477537;ABP=5.64425;AC=1;AF=0.5;AN=2;AO=287;CIGAR=1X;DP=601;DPB=601;DPRA=0;EPP=86.4266;EPPR=58.3257;GTI=0;LEN=1;MEANALT=3;MQM=39.4808;MQMR=40.1941;NS=1;NUMALT=1;ODDS=1281.79;PAIRED=0.986063;PAIREDR=0.963816;PAO=0;PQA=0;PQR=0;PRO=0;QA=8952;QR=9609;RO=304;RPL=214;RPP=153.432;RPPR=255.473;RPR=73;RUN=1;SAF=131;SAP=7.73912;SAR=156;SF=1;SRF=148;SRP=3.46745;SRR=156;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon5:c.C369T:p.I123I,NOS1AP:NM_014697:exon5:c.C384T:p.I128I;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0041;1000g2015aug_all=0.00319489;avsnp147=rs41271969;Kaviar_AF=0.0033764;Kaviar_AC=522;Kaviar_AN=154602;ExAC_ALL=0.0035;ExAC_AFR=0.0004;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0153;ExAC_NFE=0.0040;ExAC_OTH=0.0077;ExAC_SAS=0.0018;CLNALLELEID=486842;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5531;dpsi_zscore=-1.144;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0153;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0046;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0157;gnomAD_genome_NFE=0.0051;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-588.879,0,-649.904:601:304:287:8952:9609:304,287 . . . . . . . . . . . . chr1 162313735 . C T 16913.36 . AB=0.42451;ABP=81.3657;AC=90;AF=0.5;AN=134;AO=672;CIGAR=1X;DP=94855;DPB=1583;DPRA=0;EPP=6.31921;EPPR=28.0161;GTI=0;LEN=1;MEANALT=3;MQM=36.9092;MQMR=36.8621;NS=1;NUMALT=1;ODDS=2346.87;PAIRED=0.925595;PAIREDR=0.8753;PAO=0;PQA=0;PQR=0;PRO=0;QA=18140;QR=25549;RO=834;RPL=396;RPP=49.5419;RPPR=22.2671;RPR=276;RUN=1;SAF=270;SAP=59.3135;SAR=402;SF=0,1;SRF=338;SRP=68.0087;SRR=496;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon6:c.C549T:p.S183S,NOS1AP:NM_014697:exon6:c.C564T:p.S188S;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.3343;esp6500siv2_ea=0.3571;esp6500siv2_all=0.3343;esp6500siv2_ea=0.3571;1000g2015aug_all=0.430911;avsnp147=rs3751284;Kaviar_AF=0.397168;Kaviar_AC=61403;Kaviar_AN=154602;ExAC_ALL=0.4072;ExAC_AFR=0.2887;ExAC_AMR=0.4933;ExAC_EAS=0.6054;ExAC_FIN=0.4665;ExAC_NFE=0.3647;ExAC_OTH=0.4339;ExAC_SAS=0.4646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0326;dpsi_zscore=-0.179;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4127;gnomAD_exome_AFR=0.2842;gnomAD_exome_AMR=0.4850;gnomAD_exome_ASJ=0.3893;gnomAD_exome_EAS=0.5968;gnomAD_exome_FIN=0.4691;gnomAD_exome_NFE=0.3580;gnomAD_exome_OTH=0.3949;gnomAD_exome_SAS=0.4626;gnomAD_genome_ALL=0.3718;gnomAD_genome_AFR=0.2970;gnomAD_genome_AMR=0.4414;gnomAD_genome_ASJ=0.3533;gnomAD_genome_EAS=0.6063;gnomAD_genome_FIN=0.4627;gnomAD_genome_NFE=0.3632;gnomAD_genome_OTH=0.4020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1041.91,0,-1629.93:1583:834:672:18140:25549 . . . 0/1:-1485.69,0,-1551.91:1790:825:891:24378:24940 0/1:-822.078,0,-1137.85:1163:607:524:14140:18205 . 1/1:-2461.16,-289.173,0:1218:27:1118:30204:698 1/1:-3299.36,-408.551,0:1627:29:1507:40760:701 1/1:-2749.67,-349.831,0:1373:22:1265:33775:450 0/1:-927.222,0,-1176.61:1256:619:583:15722:18875 0/1:-959.804,0,-1124.59:1230:591:590:15741:18008 0/1:-940.8,0,-1165.9:1264:614:603:16219:18501 1/1:-2195.19,-284.888,0:1113:13:1021:26730:310 1/1:-4352.16,-560.431,0:2058:16:1939:52872:317 . 0/1:-2095.07,0,-2962.33:2928:1488:1303:35454:45590 1/1:-2819.09,-345.13,0:1403:26:1295:34640:649 0/1:-928.235,0,-1058.06:1182:544:591:15391:16892 . . 0/1:-596.632,0,-997.574:951:514:398:10670:15682 0/1:-1279.96,0,-1732.64:1796:899:820:21987:27465 0/1:-1258.25,0,-1311.13:1549:698:779:20670:21239 1/1:-2247.48,-295.702,0:1124:14:1054:27685:311 0/1:-998.685,0,-1509.73:1447:749:648:17342:23371 . . 0/1:-865.185,0,-883.108:1028:470:516:13835:14401 . . 0/1:-1220.53,0,-1525.57:1567:777:730:20064:23576 . . 0/1:-1253.25,0,-1621.39:1731:835:820:21319:25382 . . . 0/1:-665.365,0,-963.124:954:483:426:11212:14793 . . 0/1:-1056.5,0,-1384.15:1401:703:645:17795:21472 . 0/1:-1239.93,0,-1703.28:1692:865:759:20784:26123 1/1:-2807.89,-342.915,0:1423:32:1305:34831:741 . 0/1:-641.431,0,-713.778:827:384:401:10398:11573 0/1:-865.122,0,-1011.22:1068:519:517:14047:15959 0/1:-1384.16,0,-1685.18:1765:869:845:23192:26631 0/1:-1219.73,0,-1435.52:1616:767:782:20491:22734 . . . 1/1:-2150.68,-288.869,0:1101:17:1019:27145:324 . 0/1:-1109.4,0,-1448.58:1468:740:665:18220:22571 . 1/1:-2007.93,-248.205,0:1016:24:937:24734:554 . . 1/1:-3371.35,-391.181,0:1702:46:1571:42101:1131 0/1:-949.124,0,-1089.35:1219:576:576:15597:17542 1/1:-1909.14,-244.237,0:1000:18:908:24325:413 . . 1/1:-1639.63,-210.243,0:824:11:769:20540:295 . 0/1:-984.933,0,-1094.16:1278:598:622:16385:17921 . . 1/1:-3698.71,-442.201,0:1767:31:1648:45365:734 . . 0/1:-905.078,0,-1197.24:1218:599:575:15538:18686 . . 1/1:-3037.5,-375.143,0:1578:31:1448:38166:892 0/1:-684.302,0,-931.531:948:467:438:11516:14356 1/1:-1592.28,-179.734,0:804:22:740:19678:584 1/1:-3026.76,-379.192,0:1558:32:1439:37788:781 . 0/1:-1223.94,0,-1442.8:1598:770:760:20372:23153 . 0/1:-898.961,0,-1312.44:1283:677:559:15757:20515 0/1:-980.834,0,-1131.84:1230:593:587:15958:17950 0/1:-814.114,0,-975.386:1034:491:501:13282:15162 . . 1/1:-2751.11,-356.633,0:1408:15:1288:34030:444 0/1:-1596.18,0,-1712.42:1969:918:982:26422:27792 0/1:-974.299,0,-1034.38:1223:564:584:15882:16917 0/1:-1333.06,0,-1665.55:1755:858:828:22061:25896 1/1:-3130.75,-407.457,0:1562:15:1441:38089:363 1/1:-3159.11,-390.234,0:1572:28:1455:38645:671 . 0/1:-1430.2,0,-1852.57:1664:876:749:22242:27326:876,749 1/1:-3809.38,-393.676,0:1609:32:1526:45138:864:32,1526 0/1:-1585.78,0,-1775.56:1721:839:834:24199:26376:839,834 . 1/1:-3018.63,-329.346,0:1264:18:1206:35492:459:18,1206 0/1:-1525.18,0,-1655.32:1605:777:791:23105:24862:777,791 0/1:-1372.83,0,-1519.38:1436:704:706:20973:22374:704,706 . 0/1:-1354.28,0,-1349.89:1359:644:677:20228:20412:644,677 1/1:-3441.46,-338.471,0:1491:41:1410:41381:1118:41,1410 . . . 0/1:-1182.56,0,-1587.51:1381:724:635:18547:23123:724,635 0/1:-1416.49,0,-1745.43:1594:809:750:22009:25784:809,750 0/1:-1167.75,0,-1743.54:1468:801:632:18612:25261:801,632 0/1:-1659.77,0,-1694.65:1682:803:840:24961:25465:803,840 . 0/1:-1225.4,0,-1467.22:1339:673:640:18803:21603:673,640 . chr1 162324996 . C T 7107.86 . AB=0.511842;ABP=3.93603;AC=2;AF=0.5;AN=4;AO=389;CIGAR=1X;DP=2065;DPB=760;DPRA=0;EPP=32.7578;EPPR=37.1798;GTI=0;LEN=1;MEANALT=3;MQM=35.8458;MQMR=36.5086;NS=1;NUMALT=1;ODDS=1273.04;PAIRED=0.928021;PAIREDR=0.933908;PAO=0;PQA=0;PQR=0;PRO=0;QA=10369;QR=9671;RO=348;RPL=178;RPP=9.08931;RPPR=39.0518;RPR=211;RUN=1;SAF=222;SAP=19.8964;SAR=167;SF=0,1;SRF=157;SRP=10.2236;SRR=191;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon7:c.C600T:p.A200A,NOS1AP:NM_014697:exon7:c.C615T:p.A205A;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.0337;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0337;esp6500siv2_ea=0.0017;1000g2015aug_all=0.0303514;avsnp147=rs61751200;Kaviar_AF=0.0092819;Kaviar_AC=1435;Kaviar_AN=154602;ExAC_ALL=0.0096;ExAC_AFR=0.0932;ExAC_AMR=0.0068;ExAC_EAS=0.0005;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0044;ExAC_SAS=0.0005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2496;dpsi_zscore=-0.775;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.0993;gnomAD_exome_AMR=0.0073;gnomAD_exome_ASJ=0.0031;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=8.972e-05;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0060;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0278;gnomAD_genome_AFR=0.0955;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-628.387,0,-568.786:760:348:389:10369:9671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1191.83,0,-1374.37:1305:666:614:18277:20518:666,614 . . . . . . . . . . . . . . . . . . chr1 162326761 . C T 11620.10 . AB=0.471945;ABP=13.976;AC=1;AF=0.5;AN=2;AO=757;CIGAR=1X;DP=1604;DPB=1604;DPRA=0;EPP=12.3301;EPPR=9.27981;GTI=0;LEN=1;MEANALT=3;MQM=33.4214;MQMR=33.7506;NS=1;NUMALT=1;ODDS=2675.62;PAIRED=0.882431;PAIREDR=0.887218;PAO=0;PQA=0;PQR=0;PRO=0;QA=21427;QR=24090;RO=798;RPL=299;RPP=75.5294;RPPR=54.8318;RPR=458;RUN=1;SAF=431;SAP=34.6358;SAR=326;SF=0;SRF=475;SRP=65.8796;SRR=323;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon8:c.C759T:p.P253P,NOS1AP:NM_014697:exon8:c.C774T:p.P258P;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5326;dpsi_zscore=-1.123;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1181.95,0,-1371.89:1604:798:757:21427:24090 . . . . . . . . . . . . . . . . . . . . . . . . . chr1 162326851 . C T 16299.50 . AB=0.429577;ABP=119.23;AC=1;AF=0.5;AN=2;AO=1159;CIGAR=1X;DP=2698;DPB=2698;DPRA=0;EPP=4.58598;EPPR=29.8823;GTI=0;LEN=1;MEANALT=3;MQM=32.648;MQMR=33.9986;NS=1;NUMALT=1;ODDS=3753.1;PAIRED=0.867127;PAIREDR=0.840199;PAO=0;PQA=0;PQR=0;PRO=0;QA=31926;QR=41391;RO=1408;RPL=508;RPP=41.323;RPPR=151.219;RPR=651;RUN=1;SAF=507;SAP=42.4022;SAR=652;SF=0;SRF=655;SRP=17.822;SRR=753;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon8:c.C849T:p.S283S,NOS1AP:NM_014697:exon8:c.C864T:p.S288S;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.0054;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0054;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00159744;avsnp147=rs77473623;Kaviar_AF=0.0059378;Kaviar_AC=918;Kaviar_AN=154602;ExAC_ALL=0.0057;ExAC_AFR=0.0018;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0038;ExAC_NFE=0.0088;ExAC_OTH=0.0044;ExAC_SAS=0.0020;CLNALLELEID=45323;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9633;dpsi_zscore=1.498;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0093;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0050;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0083;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1651.84,0,-2427.91:2698:1408:1159:31926:41391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 162335256 . C T 11865.20 . AB=0.455291;ABP=24.1746;AC=35;AF=0.5;AN=64;AO=555;CIGAR=1X;DP=46336;DPB=1219;DPRA=0;EPP=3.10811;EPPR=7.56407;GTI=0;LEN=1;MEANALT=3;MQM=34.1225;MQMR=35.0032;NS=1;NUMALT=1;ODDS=1847.22;PAIRED=0.899099;PAIREDR=0.889968;PAO=0;PQA=0;PQR=0;PRO=0;QA=14777;QR=18178;RO=618;RPL=308;RPP=17.5689;RPPR=4.41578;RPR=247;RUN=1;SAF=224;SAP=47.8052;SAR=331;SF=0,1;SRF=238;SRP=73.8607;SRR=380;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R\x3bNOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.2147;esp6500siv2_ea=0.1199;esp6500siv2_all=0.2147;esp6500siv2_ea=0.1199;1000g2015aug_all=0.250799;avsnp147=rs348624;Kaviar_AF=0.166621;Kaviar_AC=25760;Kaviar_AN=154602;ExAC_ALL=0.1730;ExAC_AFR=0.4163;ExAC_AMR=0.2089;ExAC_EAS=0.1289;ExAC_FIN=0.1053;ExAC_NFE=0.1195;ExAC_OTH=0.1582;ExAC_SAS=0.2616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0857;dpsi_zscore=-0.404;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1686;gnomAD_exome_AFR=0.4198;gnomAD_exome_AMR=0.2065;gnomAD_exome_ASJ=0.1532;gnomAD_exome_EAS=0.1300;gnomAD_exome_FIN=0.1088;gnomAD_exome_NFE=0.1169;gnomAD_exome_OTH=0.1463;gnomAD_exome_SAS=0.2631;gnomAD_genome_ALL=0.1984;gnomAD_genome_AFR=0.4066;gnomAD_genome_AMR=0.2026;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.1378;gnomAD_genome_FIN=0.1168;gnomAD_genome_NFE=0.1075;gnomAD_genome_OTH=0.1510;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-816.98,0,-1070.61:1219:618:555:14777:18178 . . . . . 0/1:-853.207,0,-948.794:1143:540:560:14764:16100 0/1:-2163.5,0,-2969.81:3107:1566:1393:37768:47208 . . . . . . . . . . . 0/1:-848.586,0,-980.694:1092:516:521:14094:15692 . . 0/1:-1290.09,0,-1296.46:1583:720:798:21483:21730 0/1:-1088.31,0,-1341.52:1520:728:706:19146:22146 . . 0/1:-1039.96,0,-1697.94:1692:900:715:18861:27237 . . . . 0/1:-894.398,0,-1255.56:1294:653:589:15846:19780 0/1:-1225.09,0,-1349.53:1534:721:743:20476:21770 . . 0/1:-993.718,0,-1267.93:1400:690:658:17137:21105 . . . 0/1:-1272.42,0,-1585.21:1701:843:790:21480:25757 . 0/1:-797.248,0,-1264.68:1283:686:539:14720:20649 . . . . . 1/1:-1515.85,-195.286,0:820:22:737:19541:499 0/1:-646.288,0,-1079.32:1050:573:433:11829:17240 1/1:-3025.22,-368.496,0:1560:32:1421:38388:849 . 0/1:-1252.99,0,-1639.16:1726:856:803:21846:26363 . . . 0/1:-1025.27,0,-1413.15:1503:772:680:18102:23410 . 1/1:-2595.33,-325.1,0:1322:25:1217:32740:687 0/1:-851.593,0,-1210.7:1275:653:567:15077:19524 . 0/1:-978.755,0,-1228.42:1374:670:630:17026:20319 . . 0/1:-569.464,0,-889.209:984:524:409:11041:15186 . . . 0/1:-1094.82,0,-1760.89:1720:901:731:19746:27730 0/1:-688.25,0,-858.625:971:469:456:12016:14139 0/1:-643.24,0,-861.048:949:466:434:11508:13855 . . 0/1:-1158.02,0,-1449.77:1603:804:738:19854:24039 . . . . . . . 0/1:-1307.15,0,-1736.13:1823:917:832:22861:27812 . 0/1:-1338.14,0,-1619.85:1757:859:822:22567:25825 0/1:-1165.84,0,-1536.22:1684:841:773:20637:25291 . . . 0/1:-1396.14,0,-1605.51:1490:743:712:21434:23819:743,712 . . . . . . . 0/1:-1595,0,-1640.06:1634:794:797:24181:24561:794,797 . 0/1:-1014.4,0,-1328.28:1173:614:524:15854:19554:614,524 . . . . . 0/1:-1207.59,0,-1482.13:1350:698:622:18537:21810:698,622 . . chr1 162335256 . C T 12844.35 . AB=0.477852;ABP=9.35858;AC=4;AF=0.5;AN=8;AO=712;CIGAR=1X;DP=5647;DPB=1490;DPRA=0;EPP=5.07198;EPPR=27.2121;GTI=0;LEN=1;MEANALT=3;MQM=39.7598;MQMR=40.1319;NS=1;NUMALT=1;ODDS=3158.26;PAIRED=0.963483;PAIREDR=0.97712;PAO=0;PQA=0;PQR=0;PRO=0;QA=21434;QR=23819;RO=743;RPL=417;RPP=48.4038;RPPR=78.7663;RPR=295;RUN=1;SAF=260;SAP=115.439;SAR=452;SF=1;SRF=280;SRP=100.884;SRR=463;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R\x3bNOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.2147;esp6500siv2_ea=0.1199;esp6500siv2_all=0.2147;esp6500siv2_ea=0.1199;1000g2015aug_all=0.250799;avsnp147=rs348624;Kaviar_AF=0.166621;Kaviar_AC=25760;Kaviar_AN=154602;ExAC_ALL=0.1730;ExAC_AFR=0.4163;ExAC_AMR=0.2089;ExAC_EAS=0.1289;ExAC_FIN=0.1053;ExAC_NFE=0.1195;ExAC_OTH=0.1582;ExAC_SAS=0.2616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0857;dpsi_zscore=-0.404;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1686;gnomAD_exome_AFR=0.4198;gnomAD_exome_AMR=0.2065;gnomAD_exome_ASJ=0.1532;gnomAD_exome_EAS=0.1300;gnomAD_exome_FIN=0.1088;gnomAD_exome_NFE=0.1169;gnomAD_exome_OTH=0.1463;gnomAD_exome_SAS=0.2631;gnomAD_genome_ALL=0.1984;gnomAD_genome_AFR=0.4066;gnomAD_genome_AMR=0.2026;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.1378;gnomAD_genome_FIN=0.1168;gnomAD_genome_NFE=0.1075;gnomAD_genome_OTH=0.1510;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1396.14,0,-1605.51:1490:743:712:21434:23819:743,712 . . . . . . . 0/1:-1595,0,-1640.06:1634:794:797:24181:24561:794,797 . 0/1:-1014.4,0,-1328.28:1173:614:524:15854:19554:614,524 . . . . . 0/1:-1207.59,0,-1482.13:1350:698:622:18537:21810:698,622 . . chr1 162336953 . C T 5926.39 . AB=0.439797;ABP=27.8488;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=789;DPB=789;DPRA=0;EPP=19.287;EPPR=41.5018;GTI=0;LEN=1;MEANALT=3;MQM=38.9971;MQMR=39.9461;NS=1;NUMALT=1;ODDS=1364.6;PAIRED=0.95389;PAIREDR=0.920375;PAO=0;PQA=0;PQR=0;PRO=0;QA=9846;QR=12944;RO=427;RPL=167;RPP=4.06788;RPPR=5.70048;RPR=180;RUN=1;SAF=187;SAP=7.57227;SAR=160;SF=1;SRF=217;SRP=3.25949;SRR=210;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon2:c.C332T:p.A111V,NOS1AP:NM_001164757:exon10:c.C1202T:p.A401V,NOS1AP:NM_014697:exon10:c.C1217T:p.A406V;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00499201;avsnp147=rs34398505;Kaviar_AF=0.001326;Kaviar_AC=205;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0138;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.072e-05;ExAC_OTH=0.0044;ExAC_SAS=0;CLNALLELEID=45322;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.516;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.043;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.757;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-1.12;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_pred=N;VEST3_score=0.159;CADD_raw=3.671;CADD_phred=23.3;DANN_score=0.998;fathmm-MKL_coding_score=0.661;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.905;MetaSVM_pred=T;MetaLR_score=0.116;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.96;phyloP7way_vertebrate=0.791;phyloP20way_mammalian=0.768;phastCons7way_vertebrate=0.913;phastCons20way_mammalian=0.959;SiPhy_29way_logOdds=15.280;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0148;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0051;gnomAD_genome_AFR=0.0177;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-604.273,0,-879.042:789:427:347:9846:12944:427,347 . . . . . . . . . . . . . . . . . . chr1 201328705 . G A 4311.56 . AB=0.463354;ABP=12.4002;AC=6;AF=0.5;AN=12;AO=373;CIGAR=1X;DP=4836;DPB=805;DPRA=0;EPP=8.6049;EPPR=5.92972;GTI=0;LEN=1;MEANALT=3;MQM=29.3271;MQMR=30.4278;NS=1;NUMALT=1;ODDS=1017.01;PAIRED=0.932976;PAIREDR=0.886111;PAO=0;PQA=0;PQR=0;PRO=0;QA=9593;QR=10563;RO=360;RPL=104;RPP=161.504;RPPR=189.853;RPR=269;RUN=1;SAF=258;SAP=122.057;SAR=115;SF=0,1;SRF=249;SRP=117.881;SRR=111;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0206;esp6500siv2_ea=0.0283;esp6500siv2_all=0.0206;esp6500siv2_ea=0.0283;1000g2015aug_all=0.0113818;avsnp147=rs45576635;Kaviar_AF=0.0193788;Kaviar_AC=2996;Kaviar_AN=154602;ExAC_ALL=0.0269;ExAC_AFR=0.0064;ExAC_AMR=0.0212;ExAC_EAS=0.0004;ExAC_FIN=0.0184;ExAC_NFE=0.0364;ExAC_OTH=0.0290;ExAC_SAS=0.0251;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3619;dpsi_zscore=0.974;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0217;gnomAD_exome_AFR=0.0041;gnomAD_exome_AMR=0.0171;gnomAD_exome_ASJ=0.0329;gnomAD_exome_EAS=6.711e-05;gnomAD_exome_FIN=0.0097;gnomAD_exome_NFE=0.0301;gnomAD_exome_OTH=0.0303;gnomAD_exome_SAS=0.0217;gnomAD_genome_ALL=0.0173;gnomAD_genome_AFR=0.0057;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0100;gnomAD_genome_NFE=0.0266;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-478.521,0,-533.718:805:360:373:9593:10563 . . . . . 0/1:-257.481,0,-296.021:512:230:242:6177:6734 . 0/1:-646.549,0,-748.7:1088:507:480:12688:14525 . . . . . . . . . . . . . . . . 0/1:-432.501,0,-584.715:816:391:351:8797:11304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-419.41,0,-591.552:788:366:364:9236:10891 . . . . . . . . . . . . . . . . . . . . 0/1:-595.332,0,-749.501:827:419:352:10227:11861:419,352 . . . . . . . . . . . . . . chr1 201328824 . G A 8141.83 . AB=0.452113;ABP=17.1524;AC=24;AF=0.5;AN=46;AO=321;CIGAR=1X;DP=26910;DPB=710;DPRA=0;EPP=3.07118;EPPR=3.03512;GTI=0;LEN=1;MEANALT=3;MQM=31.5421;MQMR=32.4743;NS=1;NUMALT=1;ODDS=984.081;PAIRED=0.915888;PAIREDR=0.934286;PAO=0;PQA=0;PQR=0;PRO=0;QA=8864;QR=10228;RO=350;RPL=265;RPP=298.5;RPPR=65.0524;RPR=56;RUN=1;SAF=129;SAP=29.8594;SAR=192;SF=0,1;SRF=123;SRP=70.115;SRR=227;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.2247;esp6500siv2_ea=0.1020;esp6500siv2_all=0.2247;esp6500siv2_ea=0.1020;1000g2015aug_all=0.277157;avsnp147=rs2275863;Kaviar_AF=0.132896;Kaviar_AC=20546;Kaviar_AN=154602;ExAC_ALL=0.2084;ExAC_AFR=0.5048;ExAC_AMR=0.1369;ExAC_EAS=0.3233;ExAC_FIN=0.2040;ExAC_NFE=0.1326;ExAC_OTH=0.1676;ExAC_SAS=0.2180;CLNALLELEID=249664;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1102;dpsi_zscore=-0.479;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1539;gnomAD_exome_AFR=0.4877;gnomAD_exome_AMR=0.0994;gnomAD_exome_ASJ=0.1377;gnomAD_exome_EAS=0.2712;gnomAD_exome_FIN=0.1335;gnomAD_exome_NFE=0.0985;gnomAD_exome_OTH=0.1518;gnomAD_exome_SAS=0.2044;gnomAD_genome_ALL=0.2177;gnomAD_genome_AFR=0.4689;gnomAD_genome_AMR=0.1184;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.2744;gnomAD_genome_FIN=0.1269;gnomAD_genome_NFE=0.0993;gnomAD_genome_OTH=0.1395;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-469.901,0,-564.81:710:350:321:8864:10228 . . . . . 0/1:-850.389,0,-944.171:1222:567:579:15962:16655 0/1:-561.293,0,-1027.26:1035:566:424:10990:16956 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-751.174,0,-1155.35:1299:671:552:14872:19913 0/1:-948.679,0,-1239.39:1514:755:674:17977:22010 . . 0/1:-598.075,0,-715.202:846:415:396:10644:12271 0/1:-859.432,0,-1074.36:1315:654:588:15943:19038 . . . 0/1:-954.492,0,-1360.54:1485:776:631:17320:22820 0/1:-734.817,0,-990.666:1135:560:507:13492:16699 . . . . . . . 0/1:-900.805,0,-1076.62:1343:642:608:16425:18791 . . . . . . . . 0/1:-822.239,0,-940.763:1155:537:547:14767:16042 . . . 0/1:-321.836,0,-564.559:602:330:240:6533:9781 . 0/1:-760.696,0,-896.646:1126:531:521:13908:15728 0/1:-869.254,0,-928.628:1249:573:605:16089:16852 0/1:-672.464,0,-1003.04:1159:604:484:13249:17307 . . . . . 0/1:-778.733,0,-1144.36:1327:676:581:15496:19661 0/1:-781.938,0,-1133.43:1296:670:557:15069:19783 . . . . . . . . . . . 0/1:-590.657,0,-1001.97:1077:586:435:11715:17055 . . . . . . . . . . 0/1:-1051.73,0,-1024.4:1114:526:546:16308:15997:526,546 . . . . . 1/1:-3403.21,-385.586,0:1452:12:1372:40667:359:12,1372 0/1:-882.749,0,-916.068:993:487:472:13884:14395:487,472 . . . 0/1:-940.872,0,-1337.24:1232:656:530:15469:19971:656,530 0/1:-949.314,0,-1283.84:1224:644:536:15687:19684:644,536 . . . chr1 201330366 . G C 6910.21 . AB=0.481781;ABP=5.14661;AC=5;AF=0.5;AN=10;AO=357;CIGAR=1X;DP=5139;DPB=741;DPRA=0;EPP=5.2061;EPPR=10.2191;GTI=0;LEN=1;MEANALT=3;MQM=33.4958;MQMR=33.7669;NS=1;NUMALT=1;ODDS=1199.34;PAIRED=0.94958;PAIREDR=0.905149;PAO=0;PQA=0;PQR=0;PRO=0;QA=10017;QR=10794;RO=369;RPL=100;RPP=152.939;RPPR=113.461;RPR=257;RUN=1;SAF=237;SAP=86.2744;SAR=120;SF=0;SRF=246;SRP=92.0407;SRR=123;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0110;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0110;esp6500siv2_ea=0.0008;1000g2015aug_all=0.0579073;avsnp147=rs2275862;Kaviar_AF=0.0210799;Kaviar_AC=3259;Kaviar_AN=154602;ExAC_ALL=0.0223;ExAC_AFR=0.0303;ExAC_AMR=0.0207;ExAC_EAS=0.1977;ExAC_FIN=0.0070;ExAC_NFE=0.0026;ExAC_OTH=0.0154;ExAC_SAS=0.0130;CLNALLELEID=186298;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1175;dpsi_zscore=0.535;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0225;gnomAD_exome_AFR=0.0311;gnomAD_exome_AMR=0.0193;gnomAD_exome_ASJ=0.0032;gnomAD_exome_EAS=0.2000;gnomAD_exome_FIN=0.0092;gnomAD_exome_NFE=0.0020;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0137;gnomAD_genome_ALL=0.0224;gnomAD_genome_AFR=0.0296;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.2010;gnomAD_genome_FIN=0.0115;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-552.709,0,-614.007:741:369:357:10017:10794 . . . . . 0/1:-786.689,0,-880.404:1097:540:539:14526:15836 0/1:-761.886,0,-858.146:1017:507:500:14131:14975 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-948.264,0,-989.694:1239:604:623:17229:17604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-622.972,0,-984.722:1045:579:452:12416:17269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 201330429 . T C 11977.84 . AB=0.477612;ABP=8.84411;AC=5;AF=0.5;AN=10;AO=640;CIGAR=1X;DP=8139;DPB=1340;DPRA=0;EPP=176.307;EPPR=66.4823;GTI=0;LEN=1;MEANALT=3;MQM=32.6344;MQMR=34.4705;NS=1;NUMALT=1;ODDS=2187.57;PAIRED=0.946875;PAIREDR=0.927383;PAO=0;PQA=0;PQR=0;PRO=0;QA=17509;QR=19394;RO=661;RPL=300;RPP=8.43898;RPPR=7.03459;RPR=340;RUN=1;SAF=321;SAP=3.02387;SAR=319;SF=0,1;SRF=348;SRP=7.03459;SRR=313;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon12:c.A740G:p.K247R,TNNT2:NM_001001431:exon13:c.A749G:p.K250R,TNNT2:NM_001276346:exon13:c.A659G:p.K220R,TNNT2:NM_000364:exon14:c.A779G:p.K260R,TNNT2:NM_001001430:exon14:c.A758G:p.K253R,TNNT2:NM_001276347:exon14:c.A758G:p.K253R,TNNT2:NM_001276345:exon15:c.A788G:p.K263R;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0602;esp6500siv2_ea=0.0148;esp6500siv2_all=0.0602;esp6500siv2_ea=0.0148;1000g2015aug_all=0.0974441;avsnp147=rs3730238;Kaviar_AF=0.047024;Kaviar_AC=7270;Kaviar_AN=154602;ExAC_ALL=0.0507;ExAC_AFR=0.1527;ExAC_AMR=0.0232;ExAC_EAS=0.0476;ExAC_FIN=0.0517;ExAC_NFE=0.0162;ExAC_OTH=0.0540;ExAC_SAS=0.1464;CLNALLELEID=52838;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.14;SIFT_pred=T;Polyphen2_HDIV_score=0.196;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.118;Polyphen2_HVAR_pred=B;LRT_score=0.087;LRT_pred=N;MutationTaster_score=0.053;MutationTaster_pred=P;MutationAssessor_score=0.84;MutationAssessor_pred=L;FATHMM_score=-2.27;FATHMM_pred=D;PROVEAN_score=-1.45;PROVEAN_pred=N;VEST3_score=0.371;CADD_raw=2.213;CADD_phred=17.60;DANN_score=0.992;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.972;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.57;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=1.058;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=5.509;GDI_full_10282015=.;dpsi_max_tissue=-2.6335;dpsi_zscore=-2.074;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM034301#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0471;gnomAD_exome_AFR=0.1530;gnomAD_exome_AMR=0.0208;gnomAD_exome_ASJ=0.0215;gnomAD_exome_EAS=0.0455;gnomAD_exome_FIN=0.0522;gnomAD_exome_NFE=0.0151;gnomAD_exome_OTH=0.0437;gnomAD_exome_SAS=0.1450;gnomAD_genome_ALL=0.0607;gnomAD_genome_AFR=0.1472;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0413;gnomAD_genome_FIN=0.0550;gnomAD_genome_NFE=0.0179;gnomAD_genome_OTH=0.0439;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-976.508,0,-1118.79:1340:661:640:17509:19394 . . . . . . . 0/1:-1252.78,0,-1396.24:1734:826:833:23041:24237 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1478.48,0,-1448.09:1413:689:710:22096:21746:689,710 . . . . . 0/1:-1940.87,0,-1997.99:1885:938:923:29186:29974:938,923 . . . . 0/1:-1763.43,0,-1822.45:1767:867:869:26816:27335:867,869 . . . . chr1 201331068 . A G 16744.70 . AB=0.516297;ABP=7.8938;AC=1;AF=0.5;AN=2;AO=1093;CIGAR=1X;DP=2117;DPB=2117;DPRA=0;EPP=118.4;EPPR=95.6931;GTI=0;LEN=1;MEANALT=3;MQM=32.0439;MQMR=32.3211;NS=1;NUMALT=1;ODDS=3139.66;PAIRED=0.858188;PAIREDR=0.833682;PAO=0;PQA=0;PQR=0;PRO=0;QA=30743;QR=26945;RO=956;RPL=332;RPP=368.646;RPPR=359.204;RPR=761;RUN=1;SAF=540;SAP=3.34605;SAR=553;SF=0;SRF=467;SRP=4.10966;SRR=489;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon11:c.T644C:p.I215T,TNNT2:NM_001001431:exon12:c.T653C:p.I218T,TNNT2:NM_001276346:exon12:c.T563C:p.I188T,TNNT2:NM_000364:exon13:c.T683C:p.I228T,TNNT2:NM_001001430:exon13:c.T662C:p.I221T,TNNT2:NM_001276347:exon13:c.T662C:p.I221T,TNNT2:NM_001276345:exon14:c.T692C:p.I231T;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs45520032;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=9.615e-05;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=178930;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=0.977;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.925;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.585;MutationAssessor_pred=M;FATHMM_score=-1.54;FATHMM_pred=D;PROVEAN_score=-4.15;PROVEAN_pred=D;VEST3_score=0.894;CADD_raw=5.995;CADD_phred=27.8;DANN_score=0.998;fathmm-MKL_coding_score=0.693;fathmm-MKL_coding_pred=D;MetaSVM_score=0.457;MetaSVM_pred=D;MetaLR_score=0.659;MetaLR_pred=D;integrated_fitCons_score=0.632;integrated_confidence_value=0;GERP++_RS=4.44;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.242;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=13.654;GDI_full_10282015=.;dpsi_max_tissue=-1.0458;dpsi_zscore=-1.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1310647#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1734.25,0,-1420.16:2117:956:1093:30743:26945 . . . . . . . . . . . . . . . . . . . . . . . chr1 201331144 . G A 14289.40 . AB=0.471531;ABP=15.745;AC=1;AF=0.5;AN=2;AO=853;CIGAR=1X;DP=1809;DPB=1809;DPRA=0;EPP=12.4828;EPPR=9.09627;GTI=0;LEN=1;MEANALT=3;MQM=37.1067;MQMR=36.5706;NS=1;NUMALT=1;ODDS=3290.25;PAIRED=0.908558;PAIREDR=0.894619;PAO=0;PQA=0;PQR=0;PRO=0;QA=24760;QR=27384;RO=892;RPL=647;RPP=498.098;RPPR=513.657;RPR=206;RUN=1;SAF=314;SAP=131.886;SAR=539;SF=1;SRF=346;SRP=100.386;SRR=546;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W\x3bTNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W\x3bTNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730881106;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.05;MutationAssessor_pred=M;FATHMM_score=-3.0;FATHMM_pred=D;PROVEAN_score=-3.0;PROVEAN_pred=D;VEST3_score=0.556;CADD_raw=6.918;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.569;fathmm-MKL_coding_pred=D;MetaSVM_score=0.705;MetaSVM_pred=D;MetaLR_score=0.822;MetaLR_pred=D;integrated_fitCons_score=0.632;integrated_confidence_value=0;GERP++_RS=1.12;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.097;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=12.404;GDI_full_10282015=.;dpsi_max_tissue=-0.9507;dpsi_zscore=-1.442;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM168011#"Cardiomyopathy_dilated";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W\x3bTNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W\x3bTNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730881106;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.05;MutationAssessor_pred=M;FATHMM_score=-3.0;FATHMM_pred=D;PROVEAN_score=-3.0;PROVEAN_pred=D;VEST3_score=0.556;CADD_raw=6.918;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.569;fathmm-MKL_coding_pred=D;MetaSVM_score=0.705;MetaSVM_pred=D;MetaLR_score=0.822;MetaLR_pred=D;integrated_fitCons_score=0.632;integrated_confidence_value=0;GERP++_RS=1.12;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.097;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=12.404;GDI_full_10282015=.;dpsi_max_tissue=-0.9507;dpsi_zscore=-1.442;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM168011#"Cardiomyopathy_dilated";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W\x3bTNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W\x3bTNNT2:NM_001001432:exon11:c.C568T:p.R190W,TNNT2:NM_001001431:exon12:c.C577T:p.R193W,TNNT2:NM_001276346:exon12:c.C487T:p.R163W,TNNT2:NM_000364:exon13:c.C607T:p.R203W,TNNT2:NM_001001430:exon13:c.C586T:p.R196W,TNNT2:NM_001276347:exon13:c.C586T:p.R196W,TNNT2:NM_001276345:exon14:c.C616T:p.R206W;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730881106;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.05;MutationAssessor_pred=M;FATHMM_score=-3.0;FATHMM_pred=D;PROVEAN_score=-3.0;PROVEAN_pred=D;VEST3_score=0.556;CADD_raw=6.918;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.569;fathmm-MKL_coding_pred=D;MetaSVM_score=0.705;MetaSVM_pred=D;MetaLR_score=0.822;MetaLR_pred=D;integrated_fitCons_score=0.632;integrated_confidence_value=0;GERP++_RS=1.12;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.097;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=12.404;GDI_full_10282015=.;dpsi_max_tissue=-0.9507;dpsi_zscore=-1.442;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM168011#"Cardiomyopathy_dilated";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1503.43,0,-1685.36:1809:892:853:24760:27384:892,853 . . . . . . . . . . . . . . chr1 201331231 . G A 2076.24 . AB=0.419414;ABP=33.8086;AC=1;AF=0.5;AN=2;AO=229;CIGAR=1X;DP=546;DPB=546;DPRA=0;EPP=14.6263;EPPR=4.0596;GTI=0;LEN=1;MEANALT=3;MQM=24.3668;MQMR=27.5168;NS=1;NUMALT=1;ODDS=478.071;PAIRED=0.668122;PAIREDR=0.758389;PAO=0;PQA=0;PQR=0;PRO=0;QA=6435;QR=8938;RO=298;RPL=122;RPP=5.14384;RPPR=4.87573;RPR=107;RUN=1;SAF=42;SAP=202.378;SAR=187;SF=0;SRF=70;SRP=184.918;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0107;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0107;1000g2015aug_all=0.00339457;avsnp147=rs28730745;Kaviar_AF=0.0089003;Kaviar_AC=1376;Kaviar_AN=154602;ExAC_ALL=0.0111;ExAC_AFR=0.0016;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0311;ExAC_NFE=0.0172;ExAC_OTH=0.0067;ExAC_SAS=6.804e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3796;dpsi_zscore=0.997;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0087;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0038;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0228;gnomAD_exome_NFE=0.0133;gnomAD_exome_OTH=0.0069;gnomAD_exome_SAS=6.575e-05;gnomAD_genome_ALL=0.0105;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0266;gnomAD_genome_NFE=0.0132;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-239.689,0,-429.007:546:298:229:6435:8938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 201331240 . C T 3805.11 . AB=0.428346;ABP=31.3284;AC=1;AF=0.5;AN=2;AO=272;CIGAR=1X;DP=635;DPB=635;DPRA=0;EPP=19.9031;EPPR=3.99361;GTI=0;LEN=1;MEANALT=3;MQM=30.8419;MQMR=32.6792;NS=1;NUMALT=1;ODDS=876.159;PAIRED=0.863971;PAIREDR=0.842767;PAO=0;PQA=0;PQR=0;PRO=0;QA=7822;QR=9280;RO=318;RPL=114;RPP=18.4661;RPPR=8.36387;RPR=158;RUN=1;SAF=115;SAP=17.0929;SAR=157;SF=1;SRF=102;SRP=91.7539;SRR=216;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001430:exon12:c.G574A:p.A192T,TNNT2:NM_001276347:exon12:c.G574A:p.A192T,TNNT2:NM_001276345:exon13:c.G604A:p.A202T;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0331;esp6500siv2_ea=.;esp6500siv2_all=0.0331;esp6500siv2_ea=.;1000g2015aug_all=0.0341454;avsnp147=rs11810834;Kaviar_AF=0.0091719;Kaviar_AC=1418;Kaviar_AN=154602;ExAC_ALL=0.0122;ExAC_AFR=0.1295;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0029;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1647;dpsi_zscore=0.650;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0076;gnomAD_exome_AFR=0.1072;gnomAD_exome_AMR=0.0049;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0053;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0304;gnomAD_genome_AFR=0.1062;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-392.044,0,-525.433:635:318:272:7822:9280:318,272 . . . . . . . . chr1 201331256 . G A 3389.72 . AB=0.444062;ABP=18.8011;AC=2;AF=0.5;AN=4;AO=258;CIGAR=1X;DP=1136;DPB=581;DPRA=0;EPP=20.8197;EPPR=3.19308;GTI=0;LEN=1;MEANALT=3;MQM=27.7752;MQMR=26.0168;NS=1;NUMALT=1;ODDS=728.749;PAIRED=0.678295;PAIREDR=0.747475;PAO=0;PQA=0;PQR=0;PRO=0;QA=7716;QR=9270;RO=297;RPL=107;RPP=19.3048;RPPR=3.89497;RPR=151;RUN=1;SAF=71;SAP=116.264;SAR=187;SF=0;SRF=99;SRP=74.6689;SRR=198;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;1000g2015aug_all=0.00179712;avsnp147=rs373805222;Kaviar_AF=0.0018823;Kaviar_AC=291;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0;ExAC_AMR=0.0023;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0040;ExAC_OTH=0.0018;ExAC_SAS=0.0040;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1600;dpsi_zscore=0.640;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0111;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0014;gnomAD_exome_SAS=0.0033;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-339.577,0,-407.996:581:297:258:7716:9270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-389.199,0,-342.656:555:251:280:8182:7884 . . . . . . . . . . . . . . . . . . . . . chr1 201334382 . G A 27958.84 . AB=0;ABP=0;AC=166;AF=1;AN=204;AO=1284;CIGAR=1X;DP=182905;DPB=1379;DPRA=0;EPP=72.0171;EPPR=24.253;GTI=0;LEN=1;MEANALT=3;MQM=32.7593;MQMR=27.4783;NS=1;NUMALT=1;ODDS=1627.68;PAIRED=0.918224;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=34113;QR=524;RO=23;RPL=712;RPP=36.1574;RPPR=3.10471;RPR=572;RUN=1;SAF=571;SAP=37.1112;SAR=713;SF=0,1;SRF=13;SRP=3.86001;SRR=10;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.6828;esp6500siv2_ea=0.7184;esp6500siv2_all=0.6828;esp6500siv2_ea=0.7184;1000g2015aug_all=0.695088;avsnp147=rs3729547;Kaviar_AF=0.712837;Kaviar_AC=110206;Kaviar_AN=154602;ExAC_ALL=0.7194;ExAC_AFR=0.6243;ExAC_AMR=0.7690;ExAC_EAS=0.5480;ExAC_FIN=0.7971;ExAC_NFE=0.7147;ExAC_OTH=0.7775;ExAC_SAS=0.8187;CLNALLELEID=52801;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3312;dpsi_zscore=-0.898;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7237;gnomAD_exome_AFR=0.6147;gnomAD_exome_AMR=0.7649;gnomAD_exome_ASJ=0.7724;gnomAD_exome_EAS=0.5437;gnomAD_exome_FIN=0.7888;gnomAD_exome_NFE=0.7096;gnomAD_exome_OTH=0.7523;gnomAD_exome_SAS=0.8175;gnomAD_genome_ALL=0.6921;gnomAD_genome_AFR=0.6157;gnomAD_genome_AMR=0.7685;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5336;gnomAD_genome_FIN=0.7944;gnomAD_genome_NFE=0.7202;gnomAD_genome_OTH=0.7454;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2597.85,-356.687,0:1379:23:1284:34113:524 0/1:-1327.7,0,-1516.38:1977:934:930:24080:26496 1/1:-3118.03,-408.998,0:1536:19:1448:39501:437 . 0/1:-1378.3,0,-1450.05:1967:913:946:25136:25543 0/1:-1728.25,0,-1929.78:2433:1158:1151:30868:32948 1/1:-3063.78,-404.011,0:1617:31:1486:39956:747 1/1:-4086.74,-551.377,0:2056:19:1913:52603:394 1/1:-3251.08,-445.362,0:1629:17:1533:41582:315 . 0/1:-1191.5,0,-1235.3:1656:771:789:21365:21854 1/1:-3648.49,-494.699,0:1825:12:1704:46295:295 0/1:-1086.84,0,-1411.83:1627:800:736:19730:23469 0/1:-847.838,0,-989.58:1326:618:635:16587:17980 1/1:-2697.2,-372.102,0:1354:11:1284:34220:294 1/1:-5413.91,-760.592,0:2682:9:2544:68488:169 1/1:-2604.56,-374.494,0:1371:11:1283:34748:247 0/1:-2493.19,0,-2843.98:3487:1684:1629:43422:48335 1/1:-3761.78,-515.197,0:1865:10:1756:47332:231 . . 1/1:-3782.48,-522.091,0:1864:9:1759:48149:210 0/1:-656.57,0,-736.11:1016:481:475:12683:13448 0/1:-1749.8,0,-1945.07:2284:1092:1083:30232:32541 1/1:-3750.97,-526.222,0:1892:7:1777:47895:167 . 0/1:-1304.89,0,-1547.33:1846:897:855:22877:26032 1/1:-3357.63,-444.271,0:1627:11:1526:42394:221 1/1:-2370.61,-334.503,0:1288:15:1180:31403:367 1/1:-2710.38,-356.298,0:1381:21:1286:34568:489 1/1:-3046.94,-416.757,0:1497:7:1404:38471:129 1/1:-4289.56,-581.607,0:2143:17:2010:54379:382 1/1:-3795.22,-523.529,0:1900:11:1783:48245:220 1/1:-3534.03,-497.18,0:1837:13:1697:45328:260 1/1:-3801.21,-501.843,0:1826:14:1729:47779:348 1/1:-3986.67,-554.034,0:2023:18:1906:51094:386 0/1:-1638.68,0,-1730.81:2255:1056:1074:28599:29740 . 1/1:-3150.66,-430.198,0:1679:22:1548:41091:534 1/1:-2575.86,-353.278,0:1347:14:1240:32750:322 0/1:-1735.54,0,-1585.8:2154:966:1090:29446:27954 0/1:-1294.47,0,-1265.06:1706:776:835:22463:21942 1/1:-3752.16,-527.472,0:1914:12:1799:47444:226 1/1:-3439.62,-460.515,0:1722:14:1625:43719:410 1/1:-4531.79,-606.922,0:2224:18:2093:56964:390 1/1:-3562.81,-480.476,0:1810:21:1683:45725:489 0/1:-1341.87,0,-1299.59:1750:781:865:23199:22854 1/1:-2146.95,-292.598,0:1054:6:985:26815:106 1/1:-2693.17,-373.731,0:1346:8:1265:34465:198 1/1:-4099.73,-529.287,0:2056:28:1923:52443:724 1/1:-4149.62,-589.417,0:2114:10:1986:52919:227 1/1:-2970.4,-407.167,0:1594:19:1468:39374:503 0/1:-1518.76,0,-2175.77:2363:1214:1042:27844:35462 1/1:-4220.38,-582.669,0:2101:16:1986:53943:319 1/1:-2120.42,-298.92,0:1169:17:1072:28144:384 1/1:-2834.48,-367.376,0:1376:18:1289:35558:412 0/1:-1463.23,0,-1419.79:1922:864:952:25719:24769 . 1/1:-2630.13,-352.572,0:1344:13:1247:33262:319 0/1:-1319.2,0,-1439.12:1853:867:881:23149:24610 0/1:-643.598,0,-730.787:1009:476:479:12284:13579 0/1:-1661.64,0,-1962.89:2342:1133:1104:29864:32928 1/1:-3337.43,-453.416,0:1667:14:1560:42166:288 1/1:-1963.35,-272.119,0:1073:16:985:25845:410 0/1:-1564.08,0,-1744.51:2130:1025:1019:27745:29423 1/1:-3469.94,-485.743,0:1798:13:1671:44310:259 1/1:-1936.48,-285.034,0:1028:6:954:25952:127 . 0/1:-1122.1,0,-1127.16:1524:680:756:19744:19444 0/1:-1542.16,0,-1372.54:1955:850:999:26774:24626 1/1:-3220.12,-431.762,0:1655:21:1538:41225:530 0/1:-1726.56,0,-1924.92:2303:1132:1091:29615:32819 0/1:-1505.1,0,-1689.54:2042:1000:958:26433:28795 0/1:-682.147,0,-621.328:1061:466:522:13387:12629 0/1:-1110.06,0,-1210.54:1515:712:726:19328:20715 1/1:-3871.85,-533.085,0:2037:25:1877:50079:566 1/1:-3985.76,-546.423,0:2022:14:1882:50629:315 1/1:-3990.04,-537.39,0:2021:18:1888:50762:491 0/1:-777.61,0,-889.637:1122:538:532:14010:15515 1/1:-2066.3,-275.303,0:1057:10:988:26632:286 1/1:-3381.24,-447.767,0:1801:34:1655:44425:878 1/1:-3962.56,-541.762,0:2006:14:1875:49846:387 0/1:-1345.57,0,-1615.6:1981:967:909:24076:27735 1/1:-3164.32,-404.652,0:1634:28:1504:40635:766 1/1:-2687.54,-363.552,0:1388:18:1290:34958:374 1/1:-3476.95,-468.571,0:1759:18:1643:44057:450 . 1/1:-3568.66,-487.937,0:1787:15:1667:45200:248 0/1:-593.589,0,-875.135:929:487:400:10854:14397 0/1:-1189.39,0,-1186.92:1538:709:769:20926:20596 1/1:-4777.6,-661.488,0:2395:14:2264:61362:324 0/1:-1102.57,0,-1424.19:1662:829:753:19690:23966 1/1:-4791.35,-652.38,0:2360:11:2219:60993:253 1/1:-3951.73,-543.176,0:2000:22:1874:50385:418 1/1:-3648.5,-500.999,0:1842:14:1733:46705:314 . 1/1:-5066.6,-563.73,0:2009:14:1957:59696:384:14,1957 0/1:-2008.45,0,-2092.73:2050:1005:1004:30379:31407:1005,1004 1/1:-5719.64,-621.694,0:2250:18:2197:67393:542:18,2197 0/1:-1351.71,0,-1241.57:1310:621:667:20501:19016:621,667 1/1:-4632.92,-510.672,0:1828:17:1784:54366:397:17,1784 0/1:-2117.64,0,-2075.85:2140:1030:1077:32597:31820:1030,1077 0/1:-1720.5,0,-1980.46:1904:975:877:26658:29813:975,877 0/1:-2070.21,0,-2043.69:2107:1009:1057:31729:31293:1009,1057 0/1:-1966.69,0,-2015.4:2008:994:981:29954:30486:994,981 . 1/1:-5424.27,-600.463,0:2148:14:2098:64002:399:14,2098 . . 0/1:-1718.81,0,-1802.42:1796:885:883:26466:27133:885,883 1/1:-5181.22,-594.951,0:2084:8:2032:61010:218:8,2032 1/1:-4614.52,-529.084,0:1862:8:1807:54526:203:8,1807 1/1:-4944.6,-517.31,0:2000:29:1932:58755:868:29,1932 . 1/1:-4527.42,-500.474,0:1778:9:1738:53261:289:9,1738 1/1:-5348.58,-608.99,0:2124:11:2074:62858:256:11,2074 chr1 201334795 . C T 9460.74 . AB=0.48662;ABP=4.57918;AC=21;AF=0.5;AN=42;AO=491;CIGAR=1X;DP=26006;DPB=1009;DPRA=0;EPP=46.3557;EPPR=53.6299;GTI=0;LEN=1;MEANALT=3;MQM=34.9776;MQMR=35.5705;NS=1;NUMALT=1;ODDS=1749.8;PAIRED=0.881874;PAIREDR=0.900415;PAO=0;PQA=0;PQR=0;PRO=0;QA=13806;QR=14720;RO=482;RPL=367;RPP=264.157;RPPR=237.205;RPR=124;RUN=1;SAF=211;SAP=24.0661;SAR=280;SF=0,1;SRF=215;SRP=15.1922;SRR=267;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon7:c.G192A:p.S64S,TNNT2:NM_001001430:exon8:c.G207A:p.S69S,TNNT2:NM_001001431:exon8:c.G207A:p.S69S,TNNT2:NM_001276347:exon8:c.G207A:p.S69S,TNNT2:NM_000364:exon9:c.G237A:p.S79S,TNNT2:NM_001276345:exon9:c.G237A:p.S79S,TNNT2:NM_001276346:exon9:c.G234A:p.S78S;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0920;esp6500siv2_ea=0.0634;esp6500siv2_all=0.0920;esp6500siv2_ea=0.0634;1000g2015aug_all=0.0824681;avsnp147=rs3729845;Kaviar_AF=0.0622954;Kaviar_AC=9631;Kaviar_AN=154602;ExAC_ALL=0.0644;ExAC_AFR=0.1618;ExAC_AMR=0.0383;ExAC_EAS=0.0003;ExAC_FIN=0.0683;ExAC_NFE=0.0624;ExAC_OTH=0.0686;ExAC_SAS=0.0634;CLNALLELEID=52786;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1381;dpsi_zscore=-1.549;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0606;gnomAD_exome_AFR=0.1547;gnomAD_exome_AMR=0.0377;gnomAD_exome_ASJ=0.0614;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0662;gnomAD_exome_NFE=0.0619;gnomAD_exome_OTH=0.0628;gnomAD_exome_SAS=0.0639;gnomAD_genome_ALL=0.0841;gnomAD_genome_AFR=0.1542;gnomAD_genome_AMR=0.0489;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0610;gnomAD_genome_NFE=0.0617;gnomAD_genome_OTH=0.0592;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-800.878,0,-881.932:1009:482:491:13806:14720 . . . . 0/1:-1333.39,0,-1716.47:1786:914:826:23220:28363 . . . . . . . . . . 0/1:-619.698,0,-635.753:806:381:396:10859:11549 . . . . . . . . . . 0/1:-892.107,0,-1067.21:1133:572:530:15203:17641 . . . . 0/1:-1033.33,0,-1330.92:1330:668:628:17904:21005 . . . . . 0/1:-992.792,0,-1005.89:1196:548:600:16777:16932 . . 0/1:-971.554,0,-1192.85:1277:634:608:16781:19699 . . 0/1:-989.965,0,-1326.54:1348:697:614:17336:21826 . . . 0/1:-685.021,0,-945.758:955:503:424:12127:15101 . 0/1:-1064.06,0,-1355.4:1442:727:674:18635:22520 0/1:-857.787,0,-811.548:1086:491:557:15167:15067 . . 0/1:-577.672,0,-665.668:815:394:394:10777:12043 . . . . . . . . . . . . . . . . . . 0/1:-471.108,0,-565.247:736:360:357:9636:10377 . . . 0/1:-1183.53,0,-1155.17:1398:652:709:19855:19917 . . . 0/1:-1038.96,0,-1561.22:1503:799:658:18546:24928 . . . . . 0/1:-961.551,0,-1248.05:1296:666:605:16537:20427 . . . . 0/1:-1264.33,0,-1403.99:1553:756:756:21750:23362 0/1:-1138.57,0,-1282.86:1436:693:696:19473:21442 . . 0/1:-1635.55,0,-1640.95:1661:800:829:25041:25156:800,829 . . . . . . . . . . . . 0/1:-1144.78,0,-1180.46:1143:572:557:17336:17829:572,557 . . . . 0/1:-1066.76,0,-1119.5:1097:537:542:16448:16804:537,542 . chr1 201336028 . G C 12470.60 . AB=0.49058;ABP=4.03304;AC=1;AF=0.5;AN=2;AO=651;CIGAR=1X;DP=1327;DPB=1327;DPRA=0;EPP=44.1082;EPPR=10.0576;GTI=0;LEN=1;MEANALT=3;MQM=38.6697;MQMR=38.8298;NS=1;NUMALT=1;ODDS=2871.45;PAIRED=0.930876;PAIREDR=0.934049;PAO=0;PQA=0;PQR=0;PRO=0;QA=19845;QR=20246;RO=652;RPL=465;RPP=262.656;RPPR=323.069;RPR=186;RUN=1;SAF=303;SAP=9.76488;SAR=348;SF=1;SRF=286;SRP=24.3254;SRR=366;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0001;1000g2015aug_all=0.028754;avsnp147=rs45449197;Kaviar_AF=0.0084346;Kaviar_AC=1304;Kaviar_AN=154602;ExAC_ALL=0.0089;ExAC_AFR=0.0979;ExAC_AMR=0.0038;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0022;ExAC_SAS=0.0001;CLNALLELEID=186306;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4935;dpsi_zscore=1.126;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0067;gnomAD_exome_AFR=0.0937;gnomAD_exome_AMR=0.0043;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0270;gnomAD_genome_AFR=0.0950;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1285.48,0,-1316.04:1327:652:651:19845:20246:652,651 . . . . . . . . chr1 201336984 . C T 10817.79 . AB=0.467836;ABP=10.693;AC=97;AF=0.5;AN=144;AO=400;CIGAR=1X;DP=74147;DPB=855;DPRA=0;EPP=39.5128;EPPR=50.5032;GTI=0;LEN=1;MEANALT=3;MQM=32.685;MQMR=32.8267;NS=1;NUMALT=1;ODDS=1097.65;PAIRED=0.9425;PAIREDR=0.918317;PAO=0;PQA=0;PQR=0;PRO=0;QA=9582;QR=11512;RO=404;RPL=261;RPP=83.8108;RPPR=80.4093;RPR=139;RUN=1;SAF=134;SAP=97.5996;SAR=266;SF=0,1;SRF=129;SRP=117.582;SRR=275;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.3268;esp6500siv2_ea=0.4466;esp6500siv2_all=0.3268;esp6500siv2_ea=0.4466;1000g2015aug_all=0.285543;avsnp147=rs3729843;Kaviar_AF=0.389284;Kaviar_AC=60184;Kaviar_AN=154602;ExAC_ALL=0.4128;ExAC_AFR=0.0772;ExAC_AMR=0.5342;ExAC_EAS=0.2070;ExAC_FIN=0.4912;ExAC_NFE=0.4552;ExAC_OTH=0.4524;ExAC_SAS=0.4420;CLNALLELEID=249666;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8250;dpsi_zscore=-1.361;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4197;gnomAD_exome_AFR=0.0688;gnomAD_exome_AMR=0.5179;gnomAD_exome_ASJ=0.4031;gnomAD_exome_EAS=0.2025;gnomAD_exome_FIN=0.4757;gnomAD_exome_NFE=0.4556;gnomAD_exome_OTH=0.4364;gnomAD_exome_SAS=0.4404;gnomAD_genome_ALL=0.3424;gnomAD_genome_AFR=0.0795;gnomAD_genome_AMR=0.5096;gnomAD_genome_ASJ=0.3709;gnomAD_genome_EAS=0.1826;gnomAD_genome_FIN=0.4822;gnomAD_genome_NFE=0.4630;gnomAD_genome_OTH=0.4520;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-505.228,0,-623.472:855:404:400:9582:11512 0/1:-598.708,0,-1000.23:1138:592:480:11749:17031 1/1:-1841.51,-244.454,0:1039:27:934:23116:544 . 0/1:-645.398,0,-835.761:1037:506:476:11764:14420 . 1/1:-1420.84,-195.843,0:860:26:769:18451:581 1/1:-1939.5,-243.883,0:1145:43:1030:25178:1016 . . 0/1:-583.179,0,-712.568:938:434:449:10729:12327 0/1:-778.566,0,-763.779:1049:478:521:13389:13733 0/1:-500.856,0,-779.179:925:480:399:9509:13679 0/1:-328.012,0,-457.303:628:312:278:6583:8555 0/1:-502.536,0,-616.405:798:380:367:9173:10988 1/1:-2685.74,-382.82,0:1432:19:1336:33659:301 0/1:-342.773,0,-494.078:633:316:284:6708:8875 0/1:-1360.6,0,-1628.3:2030:961:944:23341:27816 0/1:-756.085,0,-687.949:979:435:484:12510:12349 . . 1/1:-2080.09,-273.516,0:1150:31:1057:26242:704 . 0/1:-947.966,0,-1014.76:1345:620:651:16506:17885 1/1:-2164.53,-302.817,0:1187:21:1091:26965:360 . . . 1/1:-1204.03,-179.305,0:698:12:635:16003:204 1/1:-1406.68,-186.431,0:779:21:703:17862:382 0/1:-522.1,0,-732.42:872:437:390:9708:12517 1/1:-2230.66,-302.177,0:1255:35:1147:27984:649 1/1:-1921.92,-261.484,0:1094:31:990:24461:554 0/1:-665.025,0,-813.18:1032:489:488:11873:14498 1/1:-2287.28,-310.887,0:1184:18:1102:27915:365 . . . 0/1:-568.332,0,-718.774:915:443:428:10405:12769 . . . 1/1:-1844.14,-254.479,0:1005:21:917:23455:369 1/1:-2009.38,-267.504,0:1074:22:985:25114:459 . 0/1:-594.213,0,-881.323:1015:514:438:10675:15161 . 1/1:-1161.82,-160.354,0:663:15:602:14688:329 0/1:-476.172,0,-700.135:810:421:353:8913:11837 0/1:-834.264,0,-937.116:1245:582:584:14468:16594 . 0/1:-481.841,0,-520.796:826:371:391:9320:10550 0/1:-898.362,0,-988.219:1260:592:608:15670:16993 0/1:-729.21,0,-833.924:1165:547:551:13120:15233 0/1:-338.913,0,-361.872:574:259:268:6506:7098 1/1:-1501.95,-205.897,0:822:16:754:18789:326 0/1:-836.771,0,-932.134:1179:558:566:14346:15815 . 1/1:-1300.95,-158.399,0:757:32:673:16634:730 . 0/1:-328.167,0,-410.642:552:261:253:6187:7437 . . 0/1:-382.901,0,-385.466:623:279:300:7030:7804 0/1:-873.83,0,-1052.75:1327:637:614:15203:18490 0/1:-650.746,0,-953.84:1095:559:489:11893:16066 . . . 0/1:-687.029,0,-822.904:1059:498:500:12185:14476 . 0/1:-951.582,0,-1168.07:1440:693:664:16838:20167 0/1:-807.108,0,-938.014:1212:578:570:14151:16395 . 0/1:-562.196,0,-665.343:878:412:412:10237:11794 1/1:-2219.93,-296.234,0:1265:32:1134:27845:696 0/1:-704.877,0,-978.611:1161:584:518:12696:16895 . 0/1:-460.006,0,-598.962:742:360:336:8099:10236 1/1:-1149.74,-147.138,0:654:22:582:14669:484 1/1:-1831.53,-236.988,0:1059:37:951:23444:766 0/1:-698.491,0,-945.341:1210:586:546:12894:16820 . 0/1:-595.322,0,-827.631:1014:514:448:11049:14525 1/1:-1498.76,-184.582,0:916:39:815:19512:915 1/1:-1873.92,-253.979,0:1049:28:959:23823:549 . 0/1:-789.104,0,-811.166:1165:512:569:13803:14560 0/1:-416.134,0,-450.112:651:295:323:7686:8230 . 1/1:-2661.27,-356.836,0:1472:37:1353:33672:825 . 0/1:-865.963,0,-1063.52:1283:619:605:15561:18096 . 1/1:-2059.78,-283.394,0:1182:34:1078:26402:729 . 0/1:-1102.49,0,-939.611:1095:497:564:16800:14924:497,564 0/1:-1046.94,0,-945.358:1098:507:549:16150:14898:507,549 . . 0/1:-786.661,0,-809.413:873:424:422:12207:12606:424,422 0/1:-1093.8,0,-1118.69:1249:601:595:17173:17782:601,595 0/1:-1026.07,0,-950.618:1070:512:523:15709:15016:512,523 0/1:-825.944,0,-1210.9:1179:651:485:14082:18845:651,485 0/1:-884.775,0,-799.215:918:425:463:13617:12680:425,463 . . . . . 1/1:-2637.06,-312.527,0:1129:11:1083:31828:256:11,1083 0/1:-828.136,0,-868.97:975:478:460:13351:13956:478,460 0/1:-920.964,0,-996.45:1097:548:500:14556:15922:548,500 . . 1/1:-2497.53,-279.724,0:1063:11:1018:30124:370:11,1018 chr1 201336984 . C T 11978.54 . AB=0.515068;ABP=5.16987;AC=13;AF=0.5;AN=22;AO=564;CIGAR=1X;DP=11746;DPB=1095;DPRA=0;EPP=56.6195;EPPR=27.5868;GTI=0;LEN=1;MEANALT=3;MQM=38.7021;MQMR=38.8229;NS=1;NUMALT=1;ODDS=2084.49;PAIRED=0.952128;PAIREDR=0.937626;PAO=0;PQA=0;PQR=0;PRO=0;QA=16800;QR=14924;RO=497;RPL=371;RPP=124.998;RPPR=82.6382;RPR=193;RUN=1;SAF=196;SAP=116.912;SAR=368;SF=1;SRF=157;SRP=149.329;SRR=340;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.3268;esp6500siv2_ea=0.4466;esp6500siv2_all=0.3268;esp6500siv2_ea=0.4466;1000g2015aug_all=0.285543;avsnp147=rs3729843;Kaviar_AF=0.389284;Kaviar_AC=60184;Kaviar_AN=154602;ExAC_ALL=0.4128;ExAC_AFR=0.0772;ExAC_AMR=0.5342;ExAC_EAS=0.2070;ExAC_FIN=0.4912;ExAC_NFE=0.4552;ExAC_OTH=0.4524;ExAC_SAS=0.4420;CLNALLELEID=249666;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8250;dpsi_zscore=-1.361;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4197;gnomAD_exome_AFR=0.0688;gnomAD_exome_AMR=0.5179;gnomAD_exome_ASJ=0.4031;gnomAD_exome_EAS=0.2025;gnomAD_exome_FIN=0.4757;gnomAD_exome_NFE=0.4556;gnomAD_exome_OTH=0.4364;gnomAD_exome_SAS=0.4404;gnomAD_genome_ALL=0.3424;gnomAD_genome_AFR=0.0795;gnomAD_genome_AMR=0.5096;gnomAD_genome_ASJ=0.3709;gnomAD_genome_EAS=0.1826;gnomAD_genome_FIN=0.4822;gnomAD_genome_NFE=0.4630;gnomAD_genome_OTH=0.4520;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1102.49,0,-939.611:1095:497:564:16800:14924:497,564 0/1:-1046.94,0,-945.358:1098:507:549:16150:14898:507,549 . . 0/1:-786.661,0,-809.413:873:424:422:12207:12606:424,422 0/1:-1093.8,0,-1118.69:1249:601:595:17173:17782:601,595 0/1:-1026.07,0,-950.618:1070:512:523:15709:15016:512,523 0/1:-825.944,0,-1210.9:1179:651:485:14082:18845:651,485 0/1:-884.775,0,-799.215:918:425:463:13617:12680:425,463 . . . . . 1/1:-2637.06,-312.527,0:1129:11:1083:31828:256:11,1083 0/1:-828.136,0,-868.97:975:478:460:13351:13956:478,460 0/1:-920.964,0,-996.45:1097:548:500:14556:15922:548,500 . . 1/1:-2497.53,-279.724,0:1063:11:1018:30124:370:11,1018 chr1 201337340 . G A 3315.43 . AB=0.443662;ABP=18.6694;AC=1;AF=0.5;AN=2;AO=252;CIGAR=1X;DP=568;DPB=568;DPRA=0;EPP=4.69922;EPPR=12.4098;GTI=0;LEN=1;MEANALT=3;MQM=30.4683;MQMR=31.682;NS=1;NUMALT=1;ODDS=763.406;PAIRED=0.81746;PAIREDR=0.833922;PAO=0;PQA=0;PQR=0;PRO=0;QA=6857;QR=8042;RO=283;RPL=144;RPP=14.1779;RPPR=13.5147;RPR=108;RUN=1;SAF=105;SAP=18.2106;SAR=147;SF=0;SRF=126;SRP=10.3841;SRR=157;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon4:c.C68T:p.A23V,TNNT2:NM_001001430:exon5:c.C83T:p.A28V,TNNT2:NM_001001431:exon5:c.C83T:p.A28V,TNNT2:NM_001276347:exon5:c.C83T:p.A28V,TNNT2:NM_000364:exon6:c.C113T:p.A38V,TNNT2:NM_001276345:exon6:c.C113T:p.A38V,TNNT2:NM_001276346:exon6:c.C113T:p.A38V;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs200754249;Kaviar_AF=0.0004592;Kaviar_AC=71;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0004;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=52844;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|not_specified|Increased_left_ventricular_wall_thickness|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374|MedGen:CN221599|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.583;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.763;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-6.32;FATHMM_pred=D;PROVEAN_score=0.06;PROVEAN_pred=N;VEST3_score=0.73;CADD_raw=0.566;CADD_phred=7.920;DANN_score=0.818;fathmm-MKL_coding_score=0.011;fathmm-MKL_coding_pred=N;MetaSVM_score=0.899;MetaSVM_pred=D;MetaLR_score=0.890;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-1.3;phyloP7way_vertebrate=0.034;phyloP20way_mammalian=-0.250;phastCons7way_vertebrate=0.427;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=3.888;GDI_full_10282015=.;dpsi_max_tissue=-0.9944;dpsi_zscore=-1.468;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM063210#"Increased_left_ventricular_wall_thickness";gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=4.487e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-342.098,0,-439.298:568:283:252:6857:8042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 201338553 . T C 10413.59 . AB=0;ABP=0;AC=168;AF=1;AN=208;AO=447;CIGAR=1X;DP=71096;DPB=462;DPRA=0;EPP=23.5348;EPPR=3.25157;GTI=0;LEN=1;MEANALT=2;MQM=30.0515;MQMR=37.6667;NS=1;NUMALT=1;ODDS=547.121;PAIRED=0.879195;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=13550;QR=272;RO=9;RPL=377;RPP=460.861;RPPR=14.8328;RPR=70;RUN=1;SAF=159;SAP=83.8503;SAR=288;SF=0,1;SRF=4;SRP=3.25157;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.7269;esp6500siv2_ea=0.7219;esp6500siv2_all=0.7269;esp6500siv2_ea=0.7219;1000g2015aug_all=0.734625;avsnp147=rs10800776;Kaviar_AF=0.0237821;Kaviar_AC=619;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7297;gnomAD_genome_AFR=0.7452;gnomAD_genome_AMR=0.7733;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5311;gnomAD_genome_FIN=0.7950;gnomAD_genome_NFE=0.7224;gnomAD_genome_OTH=0.7464;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-942.28,-114.405,0:462:9:447:13550:272 0/1:-619.248,0,-516.938:822:374:416:12122:9841 1/1:-1215.71,-158.967,0:573:7:557:16761:163 . 0/1:-439.169,0,-458.308:606:299:282:8457:8414 0/1:-637.107,0,-494.042:770:336:405:11609:9366 1/1:-1118.63,-152.338,0:536:3:523:15688:73 1/1:-1521.23,-216.878,0:754:2:733:21648:50 1/1:-1157.21,-158.332,0:570:5:553:15832:139 . 0/1:-536.721,0,-415.201:622:270:328:9726:7630 1/1:-1150.92,-156.823,0:565:6:543:16207:163 0/1:-507.481,0,-331.228:613:261:333:9600:6814 0/1:-344.558,0,-268.491:460:203:238:6761:5537 1/1:-1168.07,-152.547,0:529:3:519:15641:64 1/1:-1970.94,-291.659,0:990:1:970:27792:14 1/1:-992.319,-138.693,0:496:5:482:14191:132 0/1:-1030.32,0,-853.184:1279:585:654:18895:15697 1/1:-1317.05,-177.848,0:649:6:630:18437:159 . 0/1:-305.443,0,-363.002:473:247:209:5987:6572 1/1:-1417.7,-194.682,0:680:5:664:19676:77 0/1:-295.816,0,-300.535:413:205:195:5674:5453 0/1:-545.713,0,-489.561:763:360:375:10893:9708 1/1:-1591.4,-225.009,0:784:5:765:22441:108 . 0/1:-524.102,0,-346.819:617:251:337:9741:6756 1/1:-1223.59,-161.948,0:568:2:556:16898:68 1/1:-1024.67,-152.186,0:543:6:527:14625:113 1/1:-1074.51,-148.862,0:524:5:514:14983:112 1/1:-1146.62,-154.085,0:537:4:523:15601:92 1/1:-1437.39,-192.887,0:693:5:672:19956:136 1/1:-1419.67,-198.566,0:685:3:667:19655:42 1/1:-1512.2,-214.379,0:737:5:722:20721:88 1/1:-1426.84,-187.968,0:663:6:647:19166:142 1/1:-1571.25,-219.134,0:750:3:734:21329:42 0/1:-860.481,0,-631.981:1005:448:519:15340:12525 . 1/1:-1219.64,-168.556,0:611:7:588:17002:145 1/1:-1192.1,-159.995,0:567:5:550:16298:128 0/1:-644.906,0,-484.951:782:335:432:12553:9003 0/1:-507.555,0,-424.28:680:303:341:9737:8176 1/1:-1207.15,-169.464,0:591:4:570:17218:56 1/1:-1306.37,-186.338,0:634:0:619:18164:0 1/1:-1522.27,-213.047,0:755:5:739:21482:136 1/1:-1370.01,-191.931,0:703:8:677:19480:191 0/1:-501.927,0,-467.981:657:321:313:9241:8858 1/1:-769.777,-108.973,0:364:0:362:10749:0 1/1:-1092.57,-141.373,0:509:5:494:14872:99 1/1:-1596.57,-217.139,0:782:7:759:22202:189 1/1:-1843.15,-261.877,0:889:3:876:25831:42 1/1:-1252.93,-180.027,0:635:4:620:17804:94 0/1:-492.867,0,-575.409:747:386:333:9657:10277 1/1:-1591.22,-224.227,0:761:1:746:21833:14 1/1:-804.223,-124.601,0:428:1:421:11898:27 1/1:-1007.92,-134.421,0:487:6:469:13903:122 0/1:-499.77,0,-546.905:739:374:339:9656:9880 . 1/1:-1029.3,-138.201,0:506:7:491:14343:154 0/1:-549.434,0,-525.078:777:362:389:11112:9755 0/1:-304.069,0,-227.479:428:184:230:6474:4727 0/1:-682.304,0,-490.737:811:352:429:12679:9571 1/1:-1358.66,-181.439,0:650:7:634:18944:158 1/1:-868.651,-122.924,0:436:4:425:12573:100 0/1:-615.088,0,-551.535:886:413:435:12462:11059 1/1:-1507.3,-205.589,0:720:4:705:21037:96 1/1:-739.521,-110.068,0:392:3:377:10709:60 . 0/1:-541.415,0,-403.472:640:288:338:9785:7728 0/1:-539.517,0,-427.04:692:299:357:10397:8111 1/1:-1528.45,-205.192,0:738:9:714:20902:169 0/1:-635.832,0,-609.096:874:406:428:12532:11220 0/1:-559.691,0,-477.37:738:329:369:10939:8777 0/1:-231.606,0,-233.395:404:188:200:5295:4900 0/1:-433.711,0,-284.344:522:220:284:8278:6001 1/1:-1659.52,-232.278,0:817:6:795:23075:133 1/1:-1626.01,-218.529,0:761:4:748:21841:100 1/1:-1588.56,-215.869,0:781:8:757:22319:203 0/1:-379.364,0,-249.496:430:168:244:7002:4648 1/1:-903.204,-122.82,0:415:0:408:11910:0 1/1:-1328.83,-186.437,0:660:5:645:18950:132 1/1:-1669.77,-231.284,0:802:5:785:23233:92 0/1:-644.554,0,-479.916:792:345:420:12130:9186 1/1:-1257.6,-178.754,0:611:1:597:17433:14 1/1:-1264.74,-166.367,0:641:11:618:18135:313 1/1:-1299.72,-177.781,0:655:9:636:18638:191 . 1/1:-1401.79,-190.852,0:679:6:662:19442:115 0/1:-255.129,0,-308.67:371:197:166:4851:5396 0/1:-414.827,0,-331.759:576:258:293:8487:6869 1/1:-1706.29,-235.715,0:846:8:818:24324:200 0/1:-468.934,0,-457.122:622:296:309:9193:8205 1/1:-1619.9,-227.971,0:785:5:768:22732:106 1/1:-1556.78,-210.264,0:742:5:721:21650:105 1/1:-1539.7,-213.104,0:766:11:744:21500:198 . 1/1:-2408.36,-269.837,0:949:6:935:29163:163:6,935 0/1:-888.134,0,-753.175:863:410:429:13662:11991:410,429 1/1:-2435.18,-258.926,0:961:12:937:29375:308:12,937 0/1:-618.795,0,-544.556:613:295:301:9509:8629:295,301 1/1:-1955.65,-218.886,0:756:3:743:23464:64:3,743 0/1:-1046.91,0,-811.161:994:455:513:16074:13038:455,513 0/1:-874.575,0,-660.031:823:365:434:13489:10596:365,434 0/1:-881.786,0,-755.275:886:426:436:13677:12353:426,436 0/1:-772.878,0,-535.632:695:305:374:11592:8802:305,374 . 1/1:-2126.71,-234.343,0:827:7:809:25146:134:7,809 0/1:-660.696,0,-643.195:683:337:331:10334:9928:337,331 . 0/1:-774.425,0,-557.756:715:320:380:11741:9141:320,380 1/1:-2266.68,-254.636,0:902:6:880:27325:137:6,880 1/1:-2025.81,-228.063,0:811:7:793:24600:189:7,793 1/1:-2361.4,-265.134,0:942:6:917:28310:172:6,917 . 1/1:-1960.27,-218.425,0:764:4:751:23601:100:4,751 1/1:-2258.6,-244.986,0:894:11:870:27390:238:11,870 chr1 201338896 . T C 13868.41 . 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C T,A 10024.39 . 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1/1:-1072.02,-156.935,0,.,.,.:572:3:529,.:14323,.:49 0/1:-547.97,0,-616.163,.,.,.:785:365:396,.:10538,.:11170 0/1:-319.814,0,-370.596,.,.,.:489:232:231,.:6160,.:7302 0/1:-545.164,0,-912.604,.,.,.:958:501:410,.:10643,.:15808 0/1:-432.729,0,-588.859,.,.,.:663:336:301,.:8134,.:10342 1/1:-836.813,-117.601,0,.,.,.:478:11:436,.:11452,.:250 0/1:-630.293,0,-830.936,.,.,.:932:461:431,.:11862,.:14134 1/1:-1313.86,-189.953,0,.,.,.:705:9:650,.:17514,.:191 0/1:-152.335,0,-374.559,.,.,.:371:215:140,.:3630,.:6549 0/1:-549.961,0,-679.507,.,.,.:777:377:373,.:10223,.:11344 . 2/1:-1286.17,-645.922,-565.578,-618.017,0,-537.975:778:26:367,366:9893,10622:496 1/1:-1429.25,-211.085,0,.,.,.:782:10:732,.:18897,.:184 0/1:-804.616,0,-971.714,.,.,.:1105:538:530,.:14471,.:16466 0/1:-712.297,0,-658.156,.,.,.:925:399:485,.:12926,.:12358 0/1:-259.397,0,-297.058,.,.,.:430:200:205,.:5426,.:5833 0/1:-420.908,0,-679.329,.,.,.:670:367:283,.:7669,.:11359 1/1:-1586.81,-241.898,0,.,.,.:867:3:813,.:21361,.:42 0/1:-480.542,0,-622.913,.,.,.:768:369:368,.:9347,.:11351 0/1:-596.236,0,-840.249,.,.,.:932:463:431,.:11485,.:14477 1/1:-875.354,-123.682,0,.,.,.:468:5:444,.:11703,.:143 1/1:-827.044,-103.989,0,.,.,.:441:10:409,.:11171,.:303 1/1:-1480.89,-201.656,0,.,.,.:814:14:750,.:19970,.:331 1/1:-1713.26,-246.582,0,.,.,.:896:6:839,.:22842,.:106 0/1:-571.208,0,-671.687,.,.,.:862:405:417,.:11073,.:12340 1/1:-1330.32,-181.764,0,.,.,.:735:14:679,.:18159,.:329 1/1:-1296.66,-185.693,0,.,.,.:725:8:656,.:17489,.:258 1/1:-1441.61,-202.354,0,.,.,.:755:11:710,.:19178,.:241 . 1/1:-1576.82,-224.6,0,.,.,.:853:9:789,.:20919,.:214 0/1:-375.275,0,-395.066,.,.,.:489:232:245,.:6540,.:7322 . 1/1:-2122.41,-306.442,0,.,.,.:1073:2:1021,.:27720,.:28 1/1:-1359.5,-196.382,0,.,.,.:704:6:664,.:17906,.:163 1/1:-1855.09,-265.674,0,.,.,.:964:5:898,.:24193,.:70 1/1:-1512.77,-213.153,0,.,.,.:807:10:746,.:19909,.:224 1/1:-1559.75,-219.572,0,.,.,.:834:10:775,.:20659,.:232 . 1/1:-1525.9,-178.132,0,.,.,.:647:6:621,.:18093,.:131:6,621 0/1:-617.651,0,-650.364,.,.,.:665:320:329,.:9634,.:9969:320,329 1/1:-1702.35,-188.198,0,.,.,.:735:10:699,.:20526,.:311:10,699 0/1:-337.407,0,-450.598,.,.,.:403:207:188,.:5524,.:6745:207,188 0/1:-510.015,0,-577.269,.,.,.:562:274:278,.:8056,.:8583:274,278 0/1:-575.824,0,-794.689,.,.,.:727:388:331,.:9313,.:11994:388,331 0/1:-598.054,0,-561.825,.,.,.:604:272:313,.:9190,.:8705:272,313 0/1:-494.708,0,-651.36,.,.,.:611:320:280,.:8001,.:10084:320,280 0/1:-549.604,0,-636.703,.,.,.:622:308:298,.:8652,.:9794:308,298 . . . . 0/1:-584.577,0,-483.258,.,.,.:568:246:307,.:8879,.:7799:246,307 1/1:-1631,-185.355,0,.,.,.:726:8:687,.:19816,.:273:8,687 0/1:-528.576,0,-548.663,.,.,.:579:280:288,.:8343,.:8726:280,288 0/1:-663.981,0,-644.819,.,.,.:709:330:363,.:10667,.:10110:330,363 . 1/1:-1281.28,-144.068,0,.,.,.:539:6:521,.:15259,.:186:6,521 1/1:-1645.57,-188.7,0,.,.,.:716:9:690,.:19928,.:250:9,690 chr1 201339044 . G A 4691.40 . AB=0.495077;ABP=3.15995;AC=10;AF=0.5;AN=20;AO=352;CIGAR=1X;DP=6264;DPB=711;DPRA=0;EPP=23.7627;EPPR=15.7496;GTI=0;LEN=1;MEANALT=3;MQM=32.4091;MQMR=34.3879;NS=1;NUMALT=1;ODDS=1206.48;PAIRED=0.920455;PAIREDR=0.933333;PAO=0;PQA=0;PQR=0;PRO=0;QA=10401;QR=10235;RO=330;RPL=275;RPP=244.858;RPPR=206.839;RPR=77;RUN=1;SAF=120;SAP=80.3937;SAR=232;SF=0,1;SRF=126;SRP=43.0444;SRR=204;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0905;esp6500siv2_ea=0.1009;esp6500siv2_all=0.0905;esp6500siv2_ea=0.1009;1000g2015aug_all=0.0678914;avsnp147=rs45584633;Kaviar_AF=0.0184409;Kaviar_AC=2851;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.9949;dpsi_zscore=-2.616;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0852;gnomAD_genome_AFR=0.0626;gnomAD_genome_AMR=0.0955;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0.0888;gnomAD_genome_FIN=0.0695;gnomAD_genome_NFE=0.1003;gnomAD_genome_OTH=0.1020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-567.254,0,-581.018:711:330:352:10401:10235 . . . 0/1:-596.709,0,-605.11:791:372:387:10918:11081 . . . . 0/1:-686.615,0,-525.876:773:332:418:12055:10049 . . . . . . . . . . 0/1:-277.409,0,-327.921:409:199:191:5692:6133 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-574.905,0,-708.844:861:445:392:10951:13466 . . . 0/1:-385.175,0,-533.458:576:289:260:7436:9093 . 0/1:-344.763,0,-435.176:488:246:228:6627:7531 . . . . . . . . . . 0/1:-431.96,0,-372.255:403:194:202:6489:5962:194,202 . . . . . 0/1:-672.683,0,-683.618:669:327:336:10438:10456:327,336 . . . . . . . 0/1:-543.345,0,-656.868:583:311:268:8527:10000:311,268 . . chr1 201341175 . CAGAAGAGAAGT CAGAAGT 8066.79 . AB=0;ABP=0;AC=148;AF=1;AN=196;AO=621;CIGAR=1M5D6M;DP=86742;DPB=474.583;DPRA=0;EPP=27.0993;EPPR=7.35324;GTI=0;LEN=5;MEANALT=60;MQM=30.3833;MQMR=24;NS=1;NUMALT=1;ODDS=885.343;PAIRED=0.937198;PAIREDR=1;PAO=18.5;PQA=509;PQR=505;PRO=18.5;QA=12143;QR=58;RO=2;RPL=185;RPP=223.308;RPPR=3.0103;RPR=436;RUN=1;SAF=385;SAP=80.6413;SAR=236;SF=0,1;SRF=1;SRP=3.0103;SRR=1;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.520367;avsnp147=rs398053705;Kaviar_AF=0.0179364;Kaviar_AC=2773;Kaviar_AN=154602;ExAC_ALL=0.5919;ExAC_AFR=0.3041;ExAC_AMR=0.7004;ExAC_EAS=0.4805;ExAC_FIN=0.6783;ExAC_NFE=0.6146;ExAC_OTH=0.6424;ExAC_SAS=0.6264;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6029;gnomAD_exome_AFR=0.2953;gnomAD_exome_AMR=0.6918;gnomAD_exome_ASJ=0.6451;gnomAD_exome_EAS=0.4795;gnomAD_exome_FIN=0.6671;gnomAD_exome_NFE=0.6134;gnomAD_exome_OTH=0.6209;gnomAD_exome_SAS=0.6266;gnomAD_genome_ALL=0.5292;gnomAD_genome_AFR=0.3040;gnomAD_genome_AMR=0.6776;gnomAD_genome_ASJ=0.6333;gnomAD_genome_EAS=0.4630;gnomAD_genome_FIN=0.6784;gnomAD_genome_NFE=0.6170;gnomAD_genome_OTH=0.6173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1033.13,-199.74,0:754:2:621:12143:58 0/1:-422.178,0,-998.198:1055:452:414:8384:14097 1/1:-1202.36,-216.398,0:795:3:670:13938:92 . 0/1:-432.621,0,-807.187:957:381:402:8223:11904 0/1:-572.763,0,-883.26:1160:435:498:10355:13576 1/1:-1007.28,-184.082,0:683:4:564:11734:118 1/1:-1347.04,-258.578,0:959:1:799:15649:33 1/1:-1258.4,-212.213,0:799:4:679:14670:139 . 0/1:-341.368,0,-625.847:790:304:327:6523:9582 1/1:-1269.04,-226.296,0:826:3:693:14701:92 0/1:-372.902,0,-772.525:868:357:325:6954:11118 0/1:-236.259,0,-502.521:620:241:250:4761:7558 1/1:-903.004,-156.116,0:635:5:521:10663:154 1/1:-1758.27,-335.505,0:1198:1:1001:20470:36 1/1:-781.674,-156.755,0:581:2:470:9073:62 0/1:-861.893,0,-1597.89:1884:736:803:16217:23104 1/1:-1295.54,-237.735,0:873:3:735:15139:96 . . 1/1:-1433.78,-286.28,0:948:0:822:16665:0 0/1:-182.907,0,-380.439:475:178:188:3684:5666 0/1:-440.105,0,-910.484:1058:425:412:8572:13397 1/1:-1442.8,-267.961,0:939:2:812:16585:53 . 0/1:-367.712,0,-883.233:990:409:389:7721:12891 1/1:-1274.17,-222.166,0:847:0:698:14774:0 1/1:-813.528,-160.257,0:602:1:498:9446:33 1/1:-1055.9,-191.455,0:686:0:587:12272:0 1/1:-1055.25,-199.282,0:737:0:606:12264:0 1/1:-1599.75,-289.492,0:1075:3:885:18460:100 1/1:-1377.21,-242.493,0:902:4:768:16185:135 1/1:-1000.75,-180.213,0:728:6:598:11838:195 1/1:-1460.24,-263.401,0:941:0:815:16926:0 0/1:-451.156,0,-782.145:979:364:409:8330:11525 . . 1/1:-1127.6,-218.543,0:789:4:681:13370:122 0/1:-286.285,0,-482.109:608:228:263:5166:7190 0/1:-526.539,0,-854.066:1079:405:474:9611:12764 0/1:-434.198,0,-738.065:909:349:386:7909:10917 1/1:-1211.2,-225.866,0:862:5:711:14248:147 1/1:-1281.87,-229.696,0:850:5:724:15066:148 0/1:-593.234,0,-944.91:1158:450:511:10640:14149 0/1:-372.572,0,-758.738:861:345:344:7120:10831 0/1:-359.272,0,-683.002:849:342:346:6975:10711 1/1:-705.725,-122.82,0:466:0:385:8094:0 1/1:-1073.64,-191.62,0:764:6:635:12765:201 1/1:-1609.1,-286.385,0:1066:5:886:18811:161 1/1:-1505.97,-284.561,0:1005:2:846:17519:71 1/1:-1122.76,-218.207,0:844:4:682:13322:113 0/1:-452.734,0,-1113.7:1217:514:452:8941:16163 0/1:-450.685,0,-857.055:1037:415:425:8499:12888 1/1:-705.539,-126.129,0:563:9:452:8566:276 1/1:-1018.12,-175.583,0:665:4:568:11778:123 0/1:-442.845,0,-787.487:968:357:418:8218:11127 . 1/1:-894.358,-161.908,0:646:6:519:10546:182 0/1:-419.519,0,-713.457:886:332:365:7662:10335 0/1:-193.505,0,-377.203:503:184:210:3940:5678 0/1:-510.443,0,-936.796:1166:450:472:9461:14148 0/1:-361.832,0,-622.81:756:292:334:6683:9145 1/1:-718.131,-126.326,0:565:9:447:8664:280 0/1:-569.573,0,-1022.76:1218:484:495:10467:15230 1/1:-1408.38,-247.268,0:952:5:801:16551:162 0/1:-184.683,0,-342.889:486:183:195:3695:5642 . . 0/1:-345.176,0,-811.404:901:377:353:6886:11866 0/1:-403.393,0,-872.261:929:401:359:7608:12487 0/1:-571.165,0,-1084.13:1196:494:494:10619:15520 0/1:-449.501,0,-810.42:1008:380:417:8426:11758 0/1:-168.996,0,-427.183:561:220:223:3818:6684 0/1:-321.548,0,-589.226:713:259:306:6096:8278 1/1:-1371.64,-254.88,0:982:2:779:15811:61 0/1:-490.698,0,-702.522:956:347:439:8775:10825 0/1:-496.15,0,-991.05:1131:461:469:9409:14549 0/1:-240.458,0,-483.651:558:216:222:4559:6748 1/1:-672.052,-106.805,0:490:7:390:8030:194 1/1:-1401.85,-251.081,0:954:4:811:16503:120 1/1:-1309.86,-246.477,0:931:5:766:15384:152 0/1:-528.072,0,-847.876:1060:416:453:9411:12900 1/1:-1098.02,-178.37,0:783:9:632:12996:285 1/1:-1049.16,-173.992,0:707:10:602:12534:318 1/1:-1219.7,-216.799,0:831:4:675:14130:114 . 1/1:-1372.05,-250.724,0:909:1:766:15883:35 0/1:-187.552,0,-501.668:502:228:178:3666:7123 . 1/1:-1781.73,-321.262,0:1238:9:1042:20960:284 0/1:-354.497,0,-730.896:798:328:330:6708:10225 1/1:-1619.06,-307.653,0:1034:0:906:18870:0 1/1:-1257.91,-251.556,0:913:3:765:14730:90 1/1:-1216.31,-224.61,0:916:8:733:14331:250 . 1/1:-1771.74,-263.763,0:1085:9:949:20554:266:9,949 0/1:-585.462,0,-966.348:1018:449:443:9816:14191:449,443 1/1:-1770.6,-256.875,0:1115:14:974:20855:457:14,974 0/1:-282.021,0,-619.927:590:278:230:4994:8818:278,230 0/1:-488.306,0,-793.294:866:366:377:8169:11676:366,377 0/1:-628.245,0,-1110.24:1152:507:483:10596:16133:507,483 0/1:-587.812,0,-902.849:1031:418:456:9772:13256:418,456 0/1:-635.502,0,-981.584:1129:461:510:10609:14559:461,510 0/1:-453.221,0,-866.1:921:403:377:7899:12589:403,377 . . . . 0/1:-468.963,0,-709.739:854:338:386:7915:10603:338,386 1/1:-1742.13,-268.394,0:1083:8:945:20180:242:8,945 0/1:-486.171,0,-963.738:964:439:402:8465:13878:439,402 0/1:-625.024,0,-791.659:970:377:461:10056:11905:377,461 . 1/1:-1423.99,-221.166,0:835:2:763:16408:60:2,763 1/1:-1730.13,-264.514,0:1046:5:928:20004:155:5,928 chr1 201341216 . G C 11241.10 . AB=0.487127;ABP=5.13469;AC=1;AF=0.5;AN=2;AO=719;CIGAR=1X;DP=1476;DPB=1476;DPRA=0;EPP=87.2387;EPPR=71.5115;GTI=0;LEN=1;MEANALT=3;MQM=37.0125;MQMR=33.6467;NS=1;NUMALT=1;ODDS=2395.13;PAIRED=0.972184;PAIREDR=0.953285;PAO=0;PQA=0;PQR=0;PRO=0;QA=18871;QR=19141;RO=685;RPL=256;RPP=132.42;RPPR=109.172;RPR=463;RUN=1;SAF=358;SAP=3.03748;SAR=361;SF=0;SRF=334;SRP=3.92644;SRR=351;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00319489;avsnp147=rs45553832;Kaviar_AF=0.0011578;Kaviar_AC=179;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0095;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7153;dpsi_zscore=1.869;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0093;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0031;gnomAD_genome_AFR=0.0094;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1154.14,0,-1066.31:1476:685:719:18871:19141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 201341225 . C T 16775.10 . AB=0.49415;ABP=3.54379;AC=1;AF=0.5;AN=2;AO=887;CIGAR=1X;DP=1795;DPB=1795;DPRA=0;EPP=81.4502;EPPR=93.9947;GTI=0;LEN=1;MEANALT=3;MQM=35.2153;MQMR=37.0382;NS=1;NUMALT=1;ODDS=3862.61;PAIRED=0.97407;PAIREDR=0.973003;PAO=0;PQA=0;PQR=0;PRO=0;QA=27979;QR=27940;RO=889;RPL=406;RPP=16.7809;RPPR=35.3137;RPR=481;RUN=1;SAF=414;SAP=11.5322;SAR=473;SF=1;SRF=415;SRP=11.513;SRR=474;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0069;1000g2015aug_all=0.00219649;avsnp147=rs45582534;Kaviar_AF=0.0045084;Kaviar_AC=697;Kaviar_AN=154602;ExAC_ALL=0.0039;ExAC_AFR=0.0009;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0065;ExAC_OTH=0;ExAC_SAS=0.0005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8403;dpsi_zscore=1.916;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0075;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0063;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0069;1000g2015aug_all=0.00219649;avsnp147=rs45582534;Kaviar_AF=0.0045084;Kaviar_AC=697;Kaviar_AN=154602;ExAC_ALL=0.0039;ExAC_AFR=0.0009;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0065;ExAC_OTH=0;ExAC_SAS=0.0005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8403;dpsi_zscore=1.916;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0075;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0063;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1696.07,0,-1750.99:1795:889:887:27979:27940:889,887 . . . . . . . . . . . . . . . . . chr1 201341341 . C T 19707.87 . AB=0;ABP=0;AC=172;AF=1;AN=210;AO=842;CIGAR=1X;DP=120117;DPB=869;DPRA=0;EPP=20.3511;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=35.1675;MQMR=37.125;NS=1;NUMALT=1;ODDS=1102.65;PAIRED=0.938242;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24564;QR=196;RO=8;RPL=649;RPP=539.266;RPPR=4.09604;RPR=193;RUN=1;SAF=295;SAP=166.784;SAR=547;SF=0,1;SRF=3;SRP=4.09604;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.7208;esp6500siv2_ea=0.7244;esp6500siv2_all=0.7208;esp6500siv2_ea=0.7244;1000g2015aug_all=0.771765;avsnp147=rs868407;Kaviar_AF=0.141499;Kaviar_AC=21876;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.9102;dpsi_zscore=-1.870;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7375;gnomAD_genome_AFR=0.7212;gnomAD_genome_AMR=0.7947;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.7329;gnomAD_genome_FIN=0.8074;gnomAD_genome_NFE=0.7258;gnomAD_genome_OTH=0.7617;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1932.23,-238.628,0:869:8:842:24564:196 0/1:-1073.55,0,-1431.45:1379:706:646:19109:22221 1/1:-2511.56,-297.644,0:1095:13:1059:31445:299 0/1:-651.927,0,-674.506:714:341:358:10491:10785 0/1:-955.505,0,-1357.57:1283:674:589:17254:21176 0/1:-1212.5,0,-1410.6:1459:726:707:20716:22441 1/1:-1982.78,-234.867,0:872:12:834:25298:309 1/1:-2778.33,-351.152,0:1236:8:1191:35360:177 1/1:-2318.25,-279.062,0:1030:13:996:29407:279 0/1:-1064.22,0,-1074.12:1158:562:573:17099:17460 1/1:-2474.73,-303.226,0:1074:5:1037:31136:141 1/1:-2526.57,-313.441,0:1089:4:1062:31557:96 0/1:-892.911,0,-1011.95:1044:509:517:15296:16243 0/1:-705.557,0,-651.148:817:373:425:12434:11493 1/1:-1997.98,-231.265,0:873:11:839:25127:295 1/1:-3795.17,-476.444,0:1661:9:1616:47879:187 1/1:-1659.74,-221.282,0:781:4:754:21724:78 0/1:-1875.25,0,-2526.31:2464:1289:1132:32869:40219 1/1:-2675.38,-326.779,0:1137:4:1105:33535:98 . . 1/1:-2682.35,-331.939,0:1155:5:1125:33926:106 0/1:-510.96,0,-580.809:629:303:314:9026:9626 0/1:-1162.53,0,-1417.91:1392:708:661:19861:22335 1/1:-2981.08,-372.996,0:1321:7:1274:37270:145 . 0/1:-1090.37,0,-1144.82:1228:593:620:18263:18574 1/1:-2649.9,-324.88,0:1126:4:1090:32820:63 1/1:-1658.77,-223.167,0:789:5:766:22406:114 1/1:-2183.27,-256.72,0:946:15:911:27551:297 1/1:-2207.1,-275.977,0:978:9:943:27859:126 1/1:-3256.55,-387.039,0:1406:12:1354:40780:309 1/1:-2811.24,-337.912,0:1235:12:1192:35614:298 1/1:-2606.82,-326.665,0:1157:5:1107:32903:92 1/1:-2864.74,-335.3,0:1200:8:1167:35658:231 1/1:-2838.65,-343.368,0:1209:7:1174:35459:178 0/1:-1531.37,0,-1441.75:1644:781:835:24684:23494 . 1/1:-2303.54,-288.887,0:1003:3:971:29221:60 1/1:-1838.96,-221.943,0:797:7:770:22829:142 1/1:-3153.86,-379.364,0:1341:8:1301:38927:209 0/1:-935.976,0,-1051.8:1075:534:520:15696:16767 1/1:-2599.7,-328.721,0:1156:6:1119:32856:124 1/1:-2585.33,-315.22,0:1112:9:1085:32558:200 1/1:-3222.73,-395.774,0:1372:5:1329:39789:83 1/1:-2569.25,-311.895,0:1111:9:1066:31876:174 0/1:-989.194,0,-1052.01:1138:551:565:16653:17177 1/1:-1522.29,-183.491,0:661:5:638:19087:113 1/1:-1741.47,-210.645,0:759:7:732:22064:182 1/1:-3191.27,-373.365,0:1368:15:1324:39820:370 1/1:-2760.9,-333.528,0:1183:6:1144:34586:170 1/1:-2144.79,-283.859,0:1014:6:976:28461:155 0/1:-1080.3,0,-1505.73:1401:743:639:18807:23357 1/1:-3179.89,-400.504,0:1393:6:1348:39486:104 1/1:-1504.28,-196.057,0:715:7:688:19958:196 1/1:-1994.25,-237.794,0:851:5:830:24756:154 0/1:-1143.9,0,-1320.19:1364:683:649:19202:20964 . 1/1:-1858.73,-221.092,0:828:9:796:23945:254 0/1:-1172.51,0,-1300.18:1346:674:643:19282:20793 0/1:-533.089,0,-734.229:714:374:327:9898:11615 0/1:-1310.18,0,-1352.83:1453:685:744:21775:21672 1/1:-2466.14,-295.57,0:1047:8:1020:30644:190 1/1:-1300.96,-158.563,0:622:10:594:17533:271 0/1:-1341.6,0,-1436.76:1515:738:754:22458:23105 1/1:-2751.67,-331.729,0:1207:11:1162:34612:269 1/1:-1158.08,-137.632,0:558:9:522:15331:281 . 0/1:-914.85,0,-1061:1065:542:502:14887:16896 1/1:-2715.04,-322.816,0:1178:10:1139:33848:263 1/1:-2603.38,-314.682,0:1123:9:1087:32484:179 0/1:-1475.82,0,-1560.18:1621:802:781:23989:24716 0/1:-1113.5,0,-1090.8:1249:592:635:18835:18264 0/1:-470.088,0,-550.703:661:325:316:8862:9699 0/1:-629.775,0,-949.564:867:475:379:11034:15043 1/1:-3047.95,-393.817,0:1360:2:1323:38483:57 1/1:-2967.48,-357.192,0:1277:7:1226:36944:204 1/1:-3003.01,-363.004,0:1324:17:1271:37808:334 0/1:-623.857,0,-797.364:787:409:365:10845:12888 1/1:-1463.13,-167.914,0:633:8:615:18937:235 1/1:-2413.04,-310.173,0:1080:6:1050:31251:146 1/1:-2913.01,-368.135,0:1319:10:1283:37247:258 0/1:-1098.18,0,-1359.37:1348:691:635:18901:21547 1/1:-2314.13,-264.299,0:1038:19:995:29403:503 1/1:-2129.39,-235.869,0:978:22:928:27937:648 1/1:-2363.74,-297.11,0:1032:4:1002:29784:74 . 1/1:-2808.09,-339.243,0:1214:10:1169:35229:191 0/1:-619.753,0,-616.889:678:320:344:10345:9978 0/1:-870.968,0,-1048.75:1061:546:495:14687:16763 1/1:-3622.35,-418.217,0:1563:16:1513:45804:486 0/1:-824.374,0,-1258.75:1136:615:488:14280:19208 1/1:-3274.22,-402.189,0:1395:6:1360:41172:131 1/1:-2831.58,-353.93,0:1233:5:1200:35752:105 1/1:-2809.87,-344.104,0:1271:14:1228:35884:376 . 1/1:-3625.18,-392.266,0:1404:10:1377:42959:286:10,1377 0/1:-1288.46,0,-1501.24:1329:681:635:19834:21948:681,635 1/1:-3619.04,-381.638,0:1384:15:1365:43180:416:15,1365 0/1:-853.461,0,-764.982:778:368:405:12795:11790:368,405 1/1:-3007.93,-327.046,0:1142:7:1124:35532:176:7,1124 0/1:-1386.97,0,-1569.07:1415:725:683:21333:22975:725,683 0/1:-1226.76,0,-1435.87:1259:651:599:18740:21002:651,599 0/1:-1370.56,0,-1448.07:1347:675:657:20706:21511:675,657 0/1:-1124.53,0,-1245.07:1145:583:547:17202:18522:583,547 . 1/1:-3632.73,-397.549,0:1372:4:1355:42412:144:4,1355 0/1:-1165.95,0,-1021.51:1049:497:541:17150:15697:497,541 . 0/1:-1254.19,0,-1190.99:1169:567:589:18630:18058:567,589 1/1:-3174.33,-345.27,0:1235:11:1211:37734:326:11,1211 1/1:-3401.7,-377.143,0:1300:4:1290:39998:140:4,1290 1/1:-3623.2,-379.669,0:1390:14:1368:42939:437:14,1368 . 1/1:-2790.55,-298.509,0:1037:5:1028:32796:150:5,1028 1/1:-3481.7,-383.342,0:1317:5:1303:41138:163:5,1303 chr1 201342385 . T C 8273.45 . AB=0.479808;ABP=6.69345;AC=1;AF=0.5;AN=2;AO=499;CIGAR=1X;DP=1040;DPB=1040;DPRA=0;EPP=68.8464;EPPR=97.5345;GTI=0;LEN=1;MEANALT=3;MQM=35.493;MQMR=36.4555;NS=1;NUMALT=1;ODDS=1798.33;PAIRED=0.937876;PAIREDR=0.906832;PAO=0;PQA=0;PQR=0;PRO=0;QA=14037;QR=13467;RO=483;RPL=214;RPP=24.947;RPPR=3.05076;RPR=285;RUN=1;SAF=226;SAP=12.6231;SAR=273;SF=0;SRF=224;SRP=8.51766;SRR=259;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001001432:c.-3A>G,NM_000364:c.-3A>G,NM_001001431:c.-3A>G,NM_001276347:c.-3A>G,NM_001276346:c.-3A>G,NM_001276345:c.-3A>G,NM_001001430:c.-3A>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752977897;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=364606;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.820;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=0.41;PROVEAN_pred=N;VEST3_score=0.052;CADD_raw=1.538;CADD_phred=13.52;DANN_score=0.881;fathmm-MKL_coding_score=0.069;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.849;MetaSVM_pred=T;MetaLR_score=0.144;MetaLR_pred=T;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=-2.13;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=-0.357;phastCons7way_vertebrate=0.722;phastCons20way_mammalian=0.961;SiPhy_29way_logOdds=10.210;GDI_full_10282015=.;dpsi_max_tissue=-8.7683;dpsi_zscore=-2.843;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.843e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.685e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.683e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-845.133,0,-799.11:1040:483:499:14037:13467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 227069677 . T C 10769.18 . AB=0;ABP=0;AC=182;AF=1;AN=224;AO=507;CIGAR=1X;DP=72388;DPB=519;DPRA=0;EPP=27.1021;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=32.5759;MQMR=41.3333;NS=1;NUMALT=1;ODDS=675.984;PAIRED=0.836292;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=15041;QR=104;RO=3;RPL=331;RPP=105.909;RPPR=9.52472;RPR=176;RUN=1;SAF=186;SAP=81.0677;SAR=321;SF=0,1;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7931;esp6500siv2_ea=0.7801;esp6500siv2_all=0.7931;esp6500siv2_ea=0.7801;1000g2015aug_all=0.735623;avsnp147=rs11405;Kaviar_AF=0.755857;Kaviar_AC=116857;Kaviar_AN=154602;ExAC_ALL=0.7603;ExAC_AFR=0.8168;ExAC_AMR=0.7404;ExAC_EAS=0.5626;ExAC_FIN=0.7863;ExAC_NFE=0.7801;ExAC_OTH=0.7841;ExAC_SAS=0.7508;CLNALLELEID=249746;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7289;dpsi_zscore=1.335;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7569;gnomAD_exome_AFR=0.8162;gnomAD_exome_AMR=0.7408;gnomAD_exome_ASJ=0.7548;gnomAD_exome_EAS=0.5550;gnomAD_exome_FIN=0.7870;gnomAD_exome_NFE=0.7788;gnomAD_exome_OTH=0.7744;gnomAD_exome_SAS=0.7546;gnomAD_genome_ALL=0.7693;gnomAD_genome_AFR=0.8193;gnomAD_genome_AMR=0.7536;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5455;gnomAD_genome_FIN=0.7845;gnomAD_genome_NFE=0.7619;gnomAD_genome_OTH=0.7643;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1119.12,-144.337,0:519:3:507:15041:104 0/1:-544.989,0,-521.504:690:331:329:9542:8982 1/1:-1458.46,-186.458,0:669:6:653:18798:135 1/1:-772.62,-104.355,0:353:1:348:9912:27 0/1:-557.331,0,-481.483:709:322:346:10152:8729 1/1:-1874.09,-252.048,0:865:3:845:24407:71 0/1:-531.463,0,-404.902:603:265:300:8736:7246 0/1:-595.898,0,-459.537:685:302:357:10375:8142 1/1:-1403.41,-180.91,0:612:1:604:18179:14 0/1:-609.703,0,-500.757:742:327:382:10871:8993 0/1:-430.199,0,-454.896:593:294:267:7556:7882 0/1:-439.248,0,-501.997:616:308:279:8304:8599 1/1:-1357.38,-172.182,0:626:5:602:17511:121 1/1:-1118.07,-153.243,0:527:3:512:14709:78 0/1:-439.445,0,-341.542:512:222:265:7480:5944 . 1/1:-1048.27,-143.26,0:506:3:492:14048:77 1/1:-2679.6,-343.76,0:1201:6:1169:34185:172 0/1:-428.42,0,-536.485:644:329:284:8133:8938 1/1:-1075.9,-144.266,0:505:4:494:13973:63 0/1:-355.229,0,-363.302:500:240:227:6439:6356 0/1:-517.87,0,-469.321:660:308:316:9141:8151 0/1:-279.984,0,-271.668:410:200:188:5563:5090 1/1:-1666.03,-210.35,0:754:5:738:21305:168 1/1:-1656.85,-223.762,0:767:3:751:21863:49 1/1:-895.991,-125.239,0:455:5:436:12010:108 1/1:-1400.28,-186.485,0:640:3:631:17958:49 0/1:-505.566,0,-478.799:629:288:311:9047:8008 1/1:-958.569,-133.958,0:460:0:445:12835:0 1/1:-1029.51,-131.794,0:449:1:441:13064:14 1/1:-1165.28,-153.826,0:521:0:511:14788:0 1/1:-1650.98,-214.373,0:727:1:712:20937:27 1/1:-1439.8,-189.809,0:681:6:660:18985:137 1/1:-1514.76,-205.905,0:703:0:684:19749:0 1/1:-1591.78,-196.334,0:703:5:685:20263:143 0/1:-548.207,0,-595.511:754:380:340:9865:10370 0/1:-650.345,0,-664.137:849:401:406:11550:11055 1/1:-1526.66,-197.757,0:687:3:667:19763:55 0/1:-461.277,0,-393.254:588:268:291:8163:7096 1/1:-977.583,-131.519,0:447:1:438:12865:14 0/1:-561.625,0,-627.082:778:397:338:10056:11053 1/1:-1284.75,-178.373,0:636:6:614:17288:148 1/1:-1483.44,-196.944,0:684:2:668:19163:53 1/1:-1303.41,-170.974,0:611:3:593:17047:104 1/1:-1706.52,-209.748,0:774:8:748:22032:225 1/1:-1388.31,-179.351,0:633:4:619:17947:100 1/1:-1444.81,-188.886,0:671:5:652:18762:109 1/1:-684.005,-92.7056,0:323:1:311:8933:14 1/1:-957.453,-127.578,0:446:2:433:12220:46 1/1:-1583.02,-190.835,0:704:9:686:20324:235 0/1:-663.293,0,-546.37:802:357:401:11653:9941 1/1:-1267.61,-177.85,0:626:5:604:17405:88 1/1:-1651.66,-202.906,0:750:8:728:21509:216 1/1:-1626.04,-219.998,0:768:3:752:21671:82 0/1:-356.672,0,-290.675:466:208:241:6694:5429 0/1:-436.805,0,-393.282:531:255:255:7531:6812 1/1:-1580.38,-202.575,0:696:3:685:19968:64 1/1:-717.2,-103.534,0:363:1:351:9918:27 1/1:-1123.83,-148.169,0:520:3:507:14581:82 0/1:-487.142,0,-583.048:715:371:320:8981:9990 1/1:-938.83,-123.687,0:468:5:447:12652:140 0/1:-654.718,0,-615.907:809:387:386:11159:10398 1/1:-1302.22,-160.82,0:590:9:572:16413:219 1/1:-896.181,-122.404,0:434:2:422:12160:72 1/1:-1759.44,-231.988,0:820:7:801:22922:145 1/1:-1505.73,-192.75,0:671:3:658:19306:77 0/1:-291.95,0,-290.514:424:200:198:5624:5268 0/1:-575.264,0,-489.947:693:324:323:9583:8638 1/1:-1213.58,-160.065,0:554:1:537:15662:21 0/1:-501.438,0,-494.804:671:315:332:9512:8540 0/1:-518.641,0,-455.884:632:290:309:8844:8004 0/1:-768.31,0,-666.885:918:426:443:13134:11713 1/1:-1499.43,-175.437,0:671:10:651:19284:303 1/1:-717.916,-113.597,0:426:5:400:10813:127 1/1:-1113.81,-147.452,0:511:2:498:14314:41 0/1:-571.481,0,-676.138:838:427:361:10220:11607 1/1:-1526.23,-200.825,0:697:4:682:20077:69 0/1:-618.454,0,-695.298:878:437:391:11325:11840 0/1:-326.495,0,-369.821:465:235:204:5830:6322 0/1:-421.476,0,-309.35:487:205:260:7271:5633 0/1:-675.812,0,-549.717:790:360:396:11545:9800 0/1:-619.565,0,-610.401:822:385:397:11145:10350 1/1:-1662.16,-214.398,0:791:7:765:21808:203 1/1:-1271.33,-169.087,0:608:4:588:16672:103 1/1:-1160.54,-157.221,0:575:7:555:15985:209 0/1:-560.226,0,-549.316:713:338:335:9732:9273 1/1:-923.456,-117.521,0:426:4:415:12039:98 1/1:-1458.06,-188.207,0:686:9:660:18936:179 . 0/1:-532.008,0,-408.288:627:277:315:9061:7527 1/1:-1812.73,-236.364,0:832:6:815:23558:145 0/1:-439.947,0,-488.679:584:286:269:7630:7979 0/1:-699.815,0,-637.183:890:407:443:12654:11187 . 1/1:-1481.65,-181.567,0:702:12:675:19449:322 . 0/1:-766.968,0,-665.106:742:339:373:11460:10203:339,373 1/1:-1890.59,-216.888,0:746:2:732:22250:46:2,732 1/1:-1960.92,-211.782,0:765:5:749:23285:172:5,749 1/1:-993.96,-107.072,0:388:3:379:11833:89:3,379 1/1:-1618.53,-182.123,0:613:0:605:18756:0:0,605 1/1:-2085.25,-229.952,0:802:5:786:24540:92:5,786 1/1:-1592.08,-180.563,0:615:1:603:18740:14:1,603 1/1:-2048.08,-226.247,0:775:3:767:24006:100:3,767 1/1:-1669.02,-188.318,0:643:2:635:19687:72:2,635 1/1:-2013.78,-213.572,0:776:8:762:23906:205:8,762 1/1:-1943.01,-213.357,0:744:3:731:22773:86:3,731 1/1:-1376.55,-151.548,0:521:1:513:16111:36:1,513 0/1:-739.614,0,-541.564:649:286:351:10959:8542:286,351 1/1:-1623.35,-180.306,0:608:1:602:19005:14:1,602 1/1:-2057.76,-210.196,0:798:13:776:24457:326:13,776 0/1:-628.597,0,-631.744:652:318:322:9677:9542:318,322 1/1:-2064.11,-228.58,0:789:2:772:24282:50:2,772 1/1:-1774.3,-196.954,0:676:2:665:20839:68:2,665 0/1:-521.735,0,-541.112:541:272:256:7996:8304:272,256 0/1:-867.36,0,-683.298:784:356:416:12899:10604:356,416 chr1 227069737 . C T 4378.24 . AB=0.452229;ABP=9.23427;AC=142;AF=0.5;AN=196;AO=142;CIGAR=1X;DP=39703;DPB=314;DPRA=0;EPP=5.21236;EPPR=4.68386;GTI=0;LEN=1;MEANALT=3;MQM=32.2958;MQMR=30.9363;NS=1;NUMALT=1;ODDS=368.854;PAIRED=0.915493;PAIREDR=0.789809;PAO=0;PQA=0;PQR=0;PRO=0;QA=3667;QR=4454;RO=157;RPL=125;RPP=181.377;RPPR=192.343;RPR=17;RUN=1;SAF=48;SAP=35.3683;SAR=94;SF=0,1;SRF=66;SRP=11.6547;SRR=91;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4895;esp6500siv2_ea=0.5388;esp6500siv2_all=0.4895;esp6500siv2_ea=0.5388;1000g2015aug_all=0.443291;avsnp147=rs6759;Kaviar_AF=0.494392;Kaviar_AC=76434;Kaviar_AN=154602;ExAC_ALL=0.4995;ExAC_AFR=0.3905;ExAC_AMR=0.5145;ExAC_EAS=0.4064;ExAC_FIN=0.5332;ExAC_NFE=0.5425;ExAC_OTH=0.5434;ExAC_SAS=0.4169;CLNALLELEID=249747;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2198;dpsi_zscore=0.760;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5025;gnomAD_exome_AFR=0.3796;gnomAD_exome_AMR=0.5185;gnomAD_exome_ASJ=0.6122;gnomAD_exome_EAS=0.4051;gnomAD_exome_FIN=0.5361;gnomAD_exome_NFE=0.5342;gnomAD_exome_OTH=0.5450;gnomAD_exome_SAS=0.4195;gnomAD_genome_ALL=0.4770;gnomAD_genome_AFR=0.3866;gnomAD_genome_AMR=0.5371;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.3888;gnomAD_genome_FIN=0.5358;gnomAD_genome_NFE=0.5173;gnomAD_genome_OTH=0.5072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-189.973,0,-237.82:314:157:142:3667:4454 . 0/1:-242.6,0,-288.347:377:181:176:4682:5297 1/1:-422.405,-62.0912,0:221:2:209:5569:59 0/1:-248.097,0,-319.251:421:197:197:4971:5754 1/1:-951.014,-133.912,0:519:10:482:12773:253 . 0/1:-288.499,0,-353.423:436:205:203:5297:6062 1/1:-680.2,-90.0225,0:376:13:339:9148:311 0/1:-303.264,0,-368.452:486:218:242:5964:6320 . 0/1:-200.223,0,-343.596:375:198:157:4030:5739 1/1:-746.059,-99.4465,0:405:10:371:9666:253 1/1:-570.07,-88.8844,0:328:4:298:7544:74 . . 1/1:-480.97,-72.824,0:296:9:263:6749:192 0/1:-418.502,0,-665.368:732:384:310:8138:11465 0/1:-202.851,0,-402.272:397:220:158:4311:6505 1/1:-549.276,-82.0106,0:319:6:292:7504:106 0/1:-170.047,0,-299.6:315:170:127:3385:5033 . . 1/1:-940.446,-129.484,0:495:6:456:12231:139 1/1:-828.707,-119.925,0:472:7:426:10914:169 1/1:-512.907,-78.6855,0:297:5:271:7060:123 1/1:-727.977,-104.279,0:399:9:370:9434:155 . 0/1:-189.688,0,-214.668:290:131:141:3668:3906 0/1:-206.219,0,-264.095:311:158:143:3728:4599 1/1:-612.371,-85.4193,0:329:5:300:8012:101 1/1:-823.316,-116.841,0:422:4:398:10734:78 0/1:-227.987,0,-349.595:410:216:172:4679:6213 1/1:-834.895,-118.138,0:474:12:420:10627:239 1/1:-738.747,-102.442,0:416:8:370:9669:201 0/1:-259.431,0,-448.687:488:258:211:5283:7615 0/1:-335.305,0,-528.065:578:295:248:6570:8664 1/1:-748.995,-110.493,0:419:6:380:9764:124 0/1:-261.159,0,-273.848:370:167:185:4859:4792 1/1:-480.785,-73.1611,0:274:4:247:6270:107 0/1:-269.008,0,-425.693:460:244:189:5076:7207 0/1:-281.559,0,-268.662:408:185:206:5196:5423 1/1:-857.349,-116.687,0:435:7:405:10972:158 0/1:-190.765,0,-319.65:367:190:155:3924:5590 0/1:-289.205,0,-418.153:481:245:210:5445:7171 1/1:-721.419,-101.412,0:394:6:360:9486:145 1/1:-719.561,-108.162,0:408:6:372:9283:162 1/1:-350.506,-48.9069,0:207:6:190:4841:119 1/1:-476.418,-69.8177,0:250:1:235:6270:14 1/1:-749.708,-109.216,0:408:4:378:9787:76 0/1:-275.041,0,-428.339:488:259:205:5564:7462 1/1:-706.289,-111.546,0:416:4:376:9553:92 1/1:-774.226,-98.8398,0:455:14:409:10523:381 1/1:-887.692,-126.72,0:501:10:444:11732:232 0/1:-167.261,0,-242.856:304:149:140:3525:4169 0/1:-265.352,0,-245.854:326:142:175:4645:4272 0/1:-328.734,0,-440.192:481:246:211:5851:7319 1/1:-321.24,-39.6091,0:217:11:181:4775:265 1/1:-655.975,-93.1191,0:366:7:331:8682:138 0/1:-219.597,0,-397.441:435:233:176:4504:6546 0/1:-169.694,0,-251.008:332:169:146:3588:4649 0/1:-271.338,0,-508.906:504:268:207:5264:8128 1/1:-724.054,-98.0813,0:381:5:355:9487:153 1/1:-431.684,-62.5314,0:269:11:242:6185:262 1/1:-891.081,-121.719,0:500:14:444:11936:304 1/1:-714.677,-97.9794,0:408:11:367:9665:261 . 0/1:-203.791,0,-453.445:436:257:159:4179:7508 1/1:-678.093,-100.211,0:365:2:339:8882:28 . 0/1:-275.915,0,-303.411:402:191:190:4961:5327 0/1:-327.007,0,-501.851:557:290:241:6258:8563 0/1:-289.949,0,-363.145:420:206:199:5372:6256 0/1:-131.7,0,-184.626:283:134:131:3163:3732 0/1:-136.85,0,-325.935:314:185:112:2963:5192 0/1:-292.908,0,-516.326:563:303:228:5599:8841 1/1:-792.074,-114.196,0:465:12:414:10660:272 0/1:-271.849,0,-498.557:515:280:207:5505:8149 0/1:-150.596,0,-293.289:307:162:126:3194:4857 0/1:-239.44,0,-188.021:315:127:165:4216:3684 0/1:-325.548,0,-379.103:457:222:214:5799:6510 0/1:-294.988,0,-470.732:530:268:229:5878:7741 0/1:-349.122,0,-343.856:495:220:250:6413:6557 1/1:-648.241,-87.8624,0:407:13:356:8924:353 . . 1/1:-443.061,-65.0859,0:252:5:233:5827:119 1/1:-731.788,-102.658,0:426:8:374:9671:243 . 0/1:-232.619,0,-351.469:414:207:177:4490:6075 1/1:-925.097,-129.6,0:506:8:463:12141:211 . 0/1:-336.272,0,-446.753:540:270:251:6663:7945 . 1/1:-801.579,-101.684,0:461:12:412:10693:330 . 0/1:-527.715,0,-485.529:501:242:252:7936:7343:242,252 0/1:-556.585,0,-433.05:480:209:266:8297:6648:209,266 0/1:-439.672,0,-491.337:463:235:224:6764:7405:235,224 1/1:-649.981,-72.1338,0:246:2:242:7599:50:2,242 0/1:-408.067,0,-354.368:378:169:205:6101:5511:169,205 1/1:-1164.91,-127.418,0:461:5:449:13988:117:5,449 0/1:-360.836,0,-369.191:364:178:181:5562:5671:178,181 0/1:-560.608,0,-384.669:458:197:256:8140:6119:197,256 1/1:-986.601,-106.343,0:402:6:390:11781:179:6,390 0/1:-489.126,0,-465.456:467:224:237:7381:7169:224,237 0/1:-401.453,0,-527.567:439:238:197:6230:7663:238,197 0/1:-297.39,0,-354.168:312:165:144:4526:5300:165,144 0/1:-465.502,0,-364.508:394:174:215:6867:5617:174,215 0/1:-325.148,0,-372.976:355:182:167:5061:5590:182,167 1/1:-1080.92,-93.6416,0:446:14:426:13278:441:14,426 . 0/1:-480.838,0,-472.596:460:223:233:7276:7199:223,233 1/1:-966.514,-111.381,0:377:0:370:11372:0:0,370 0/1:-259.073,0,-356.738:308:167:137:4178:5371:167,137 . chr1 227071449 . G A 10832.97 . AB=0.479282;ABP=8.40899;AC=2;AF=0.5;AN=4;AO=694;CIGAR=1X;DP=2866;DPB=1448;DPRA=0;EPP=46.5774;EPPR=67.5863;GTI=0;LEN=1;MEANALT=3;MQM=34.5692;MQMR=36.1429;NS=1;NUMALT=1;ODDS=2379.04;PAIRED=0.848703;PAIREDR=0.8529;PAO=0;PQA=0;PQR=0;PRO=0;QA=18807;QR=21968;RO=707;RPL=224;RPP=192.36;RPPR=288.726;RPR=470;RUN=1;SAF=306;SAP=24.0492;SAR=388;SF=0,1;SRF=304;SRP=33.113;SRR=403;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.G185A:p.R62H,PSEN2:NM_012486:exon5:c.G185A:p.R62H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0026;1000g2015aug_all=0.0179712;avsnp147=rs58973334;Kaviar_AF=0.0091267;Kaviar_AC=1411;Kaviar_AN=154602;ExAC_ALL=0.0099;ExAC_AFR=0.0399;ExAC_AMR=0.0075;ExAC_EAS=0.0003;ExAC_FIN=0.0002;ExAC_NFE=0.0036;ExAC_OTH=0.0221;ExAC_SAS=0.0264;CLNALLELEID=103887;CLNDN=Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.548;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=-5.02;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=2.001;CADD_phred=16.22;DANN_score=0.997;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_pred=N;MetaSVM_score=0.771;MetaSVM_pred=D;MetaLR_score=0.404;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=-4.6;phyloP7way_vertebrate=-0.695;phyloP20way_mammalian=0.085;phastCons7way_vertebrate=0.043;phastCons20way_mammalian=0.904;SiPhy_29way_logOdds=7.020;GDI_full_10282015=.;dpsi_max_tissue=0.1089;dpsi_zscore=0.509;hgmdCODING=HGMD::Alzheimer_disease#9384602;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM981662#"Alzheimer_disease";gnomAD_exome_ALL=0.0086;gnomAD_exome_AFR=0.0408;gnomAD_exome_AMR=0.0062;gnomAD_exome_ASJ=0.0173;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0249;gnomAD_genome_ALL=0.0143;gnomAD_genome_AFR=0.0455;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1067.26,0,-1342.27:1448:707:694:18807:21968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1348.64,0,-1546.13:1418:726:673:20830:23419:726,673 . . . . . . . . . . . . . . . . . chr1 227071469 . C G 10192.30 . AB=0.455908;ABP=22.1591;AC=1;AF=0.5;AN=2;AO=517;CIGAR=1X;DP=1134;DPB=1134;DPRA=0;EPP=77.3066;EPPR=77.3134;GTI=0;LEN=1;MEANALT=3;MQM=39.6538;MQMR=39.8647;NS=1;NUMALT=1;ODDS=2346.87;PAIRED=0.924565;PAIREDR=0.945545;PAO=0;PQA=0;PQR=0;PRO=0;QA=16137;QR=19387;RO=606;RPL=198;RPP=64.5046;RPPR=135.105;RPR=319;RUN=1;SAF=204;SAP=52.9122;SAR=313;SF=1;SRF=236;SRP=67.3518;SRR=370;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C205G:p.P69A,PSEN2:NM_012486:exon5:c.C205G:p.P69A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs202133351;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=9.078e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189388;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.354;SIFT_pred=T;Polyphen2_HDIV_score=0.036;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-4.88;FATHMM_pred=D;PROVEAN_score=-1.09;PROVEAN_pred=N;VEST3_score=0.408;CADD_raw=0.784;CADD_phred=9.363;DANN_score=0.979;fathmm-MKL_coding_score=0.526;fathmm-MKL_coding_pred=D;MetaSVM_score=0.564;MetaSVM_pred=D;MetaLR_score=0.935;MetaLR_pred=D;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.42;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.066;phastCons7way_vertebrate=0.151;phastCons20way_mammalian=0.007;SiPhy_29way_logOdds=14.696;GDI_full_10282015=.;dpsi_max_tissue=0.0677;dpsi_zscore=0.372;hgmdCODING=HGMD::Alzheimer_disease,_early_onset#22221884;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM124565#"Alzheimer_disease_early_onset";gnomAD_exome_ALL=8.939e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1047.47,0,-1321.16:1134:606:517:16137:19387:606,517 . . . . . . . . . . . . . chr1 227071525 . C T 18780.83 . AB=0.455908;ABP=22.1591;AC=142;AF=0.5;AN=196;AO=517;CIGAR=1X;DP=127535;DPB=1134;DPRA=0;EPP=15.7157;EPPR=9.80396;GTI=0;LEN=1;MEANALT=3;MQM=35.2863;MQMR=36.1218;NS=1;NUMALT=1;ODDS=1929.85;PAIRED=0.854932;PAIREDR=0.879865;PAO=0;PQA=0;PQR=0;PRO=0;QA=15168;QR=18691;RO=591;RPL=351;RPP=146.76;RPPR=216.413;RPR=166;RUN=1;SAF=177;SAP=114.604;SAR=340;SF=0,1;SRF=199;SRP=139.872;SRR=392;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4902;esp6500siv2_ea=0.5395;esp6500siv2_all=0.4902;esp6500siv2_ea=0.5395;1000g2015aug_all=0.443291;avsnp147=rs1046240;Kaviar_AF=0.496235;Kaviar_AC=76719;Kaviar_AN=154602;ExAC_ALL=0.4991;ExAC_AFR=0.3877;ExAC_AMR=0.5158;ExAC_EAS=0.4064;ExAC_FIN=0.5331;ExAC_NFE=0.5418;ExAC_OTH=0.5452;ExAC_SAS=0.4170;CLNALLELEID=249748;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0269;dpsi_zscore=0.179;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5030;gnomAD_exome_AFR=0.3796;gnomAD_exome_AMR=0.5193;gnomAD_exome_ASJ=0.6124;gnomAD_exome_EAS=0.4051;gnomAD_exome_FIN=0.5363;gnomAD_exome_NFE=0.5348;gnomAD_exome_OTH=0.5458;gnomAD_exome_SAS=0.4194;gnomAD_genome_ALL=0.4774;gnomAD_genome_AFR=0.3867;gnomAD_genome_AMR=0.5383;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.3856;gnomAD_genome_FIN=0.5367;gnomAD_genome_NFE=0.5179;gnomAD_genome_OTH=0.5072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-873.751,0,-1170.9:1134:591:517:15168:18691 . 0/1:-1188.08,0,-1308.39:1381:687:661:19788:21903 1/1:-1853.53,-226.579,0:815:8:780:23378:209 0/1:-1229.7,0,-1487.18:1516:773:709:21195:24264 1/1:-3910.23,-487.638,0:1750:12:1683:50019:300 . 0/1:-1477.19,0,-1361.77:1585:723:818:24515:23028 1/1:-3075.14,-361.101,0:1360:17:1296:39061:449 0/1:-1146.88,0,-1500.98:1452:747:672:20022:23898 . 0/1:-1104.88,0,-1323.95:1351:670:648:18983:21358 1/1:-2935.88,-366.7,0:1311:8:1260:37858:218 1/1:-2447.07,-318.949,0:1124:4:1089:31816:122 . . 1/1:-1998.82,-250.592,0:929:11:887:26337:322 0/1:-2309.87,0,-3218.18:3026:1605:1350:40592:50999 0/1:-1126.38,0,-1208.13:1285:616:643:19252:20002 1/1:-2187.62,-274.716,0:985:5:951:28042:149 0/1:-714.991,0,-1194.05:1064:582:448:12871:18703 . . 1/1:-3927.41,-474.166,0:1736:13:1665:49724:384 1/1:-3407.47,-432.38,0:1534:5:1464:43519:136 1/1:-2045.42,-270.675,0:958:4:916:26786:100 1/1:-3004.98,-354.862,0:1310:12:1256:38066:340 . 0/1:-795.218,0,-896.68:981:484:471:13928:15136 0/1:-808.585,0,-1120.12:1031:545:464:14010:17524 1/1:-2835.14,-345.711,0:1231:8:1191:35980:236 1/1:-3692.9,-450.999,0:1593:5:1533:46596:136 0/1:-1081.61,0,-1579.95:1510:810:664:19596:25398 1/1:-2906.88,-371.269,0:1317:6:1264:37249:150 1/1:-3174.37,-391.636,0:1393:11:1345:39972:307 0/1:-1381.74,0,-1424.03:1560:744:777:23154:23680 0/1:-1417.61,0,-1755.7:1730:881:817:24286:28164 1/1:-2843.07,-334.08,0:1228:13:1173:35942:304 0/1:-1011.33,0,-1222.16:1251:635:575:17418:20137 1/1:-2141.5,-272.973,0:941:2:911:27083:28 0/1:-1521.6,0,-1613.91:1756:850:865:26475:26971 0/1:-1283.59,0,-1362.94:1452:701:716:21530:22429 1/1:-3217.08,-400.814,0:1420:4:1363:40565:122 0/1:-941.886,0,-1497.15:1312:722:553:16795:23318 0/1:-1406.07,0,-1709.25:1683:851:793:24024:27081 1/1:-3233.21,-405.644,0:1420:2:1358:41002:50 1/1:-3001.73,-370.512,0:1357:9:1302:38823:293 1/1:-1822.47,-222.478,0:802:6:775:23114:163 1/1:-2729.31,-342.155,0:1185:4:1139:34162:76 1/1:-3951.39,-478.563,0:1725:11:1666:50369:313 0/1:-1239.63,0,-1522.8:1522:775:705:21309:24175 1/1:-2696.83,-350.838,0:1255:8:1198:35662:247 1/1:-3833.07,-471.173,0:1704:13:1637:48666:341 1/1:-3970.59,-492.866,0:1745:8:1685:49410:232 0/1:-733.857,0,-866.878:928:455:447:13332:14694 0/1:-915.186,0,-1126.91:1099:563:515:15436:18041 0/1:-1368.64,0,-1558.31:1661:827:791:23477:26116 1/1:-1541.2,-200.432,0:747:7:713:20715:196 1/1:-2306.77,-287.157,0:1034:6:991:29374:159 0/1:-1234.61,0,-1471.94:1503:763:704:21168:23678 0/1:-778.817,0,-889.01:950:469:460:13746:14675 0/1:-1394.65,0,-1579.87:1619:792:791:23710:25241 1/1:-3213.46,-399.111,0:1392:4:1349:39892:100 1/1:-1805.09,-231.478,0:839:8:797:23676:229 1/1:-4026.89,-489.569,0:1763:10:1704:51472:338 1/1:-3362.74,-422.086,0:1458:2:1413:42309:63 . 0/1:-1312.21,0,-1245.19:1389:647:708:21423:20824 1/1:-2691.64,-340.374,0:1198:2:1140:34070:42 . 0/1:-1267.67,0,-1353.57:1471:719:720:21508:22810 0/1:-1570.06,0,-1804.37:1830:898:888:26408:28645 0/1:-1193.06,0,-1663.33:1575:845:692:20652:26846 0/1:-724.756,0,-837.861:983:485:461:13318:14850 0/1:-978.539,0,-891.979:1033:465:549:16051:14897 0/1:-1212.25,0,-1750.64:1662:875:740:21336:27860 1/1:-3299.55,-393.693,0:1501:17:1438:42113:527 0/1:-1216.5,0,-1697.16:1601:841:733:21688:26554 0/1:-665.739,0,-1018.14:911:495:398:11699:15764 0/1:-832.189,0,-889.486:921:439:451:13527:13964 0/1:-1198.22,0,-1568.22:1534:799:709:21158:25207 0/1:-1351.81,0,-1609.86:1636:817:779:23247:26039 0/1:-1328.9,0,-1587.79:1606:799:769:22638:25492 1/1:-2674.71,-334.666,0:1199:7:1148:33901:200 . . 1/1:-2017.34,-243.817,0:925:11:877:26147:317 1/1:-3413.84,-394.121,0:1564:25:1494:44044:766 . 0/1:-918.933,0,-1189.18:1195:626:535:16230:19709 1/1:-4004.89,-485.068,0:1772:17:1699:51227:480 . 0/1:-1519.08,0,-1778.89:1820:909:874:26335:28897 . 1/1:-3483.32,-429.755,0:1581:14:1502:44301:387 . 0/1:-1211.9,0,-1229.96:1162:572:576:18121:18391:572,576 0/1:-1004.54,0,-1211.94:1065:555:494:15523:17797:555,494 0/1:-1096.38,0,-1211.61:1097:553:531:16829:18073:553,531 1/1:-1674.65,-175.562,0:652:7:631:19836:199:7,631 0/1:-995.52,0,-1059.09:978:495:474:15057:15876:495,474 1/1:-2942.82,-326.777,0:1139:4:1116:34941:136:4,1116 0/1:-1025.64,0,-833.353:887:403:475:15049:12894:403,475 0/1:-1058.59,0,-1299.02:1113:586:518:16504:18924:586,518 1/1:-2510.81,-274.23,0:947:2:930:29599:72:2,930 0/1:-1261.95,0,-1172.31:1172:564:592:18782:17995:564,592 0/1:-1028.45,0,-1207.09:1070:551:506:15885:17825:551,506 0/1:-936.068,0,-975.36:887:441:434:13892:14329:441,434 0/1:-942.548,0,-1087.29:963:503:448:14283:16115:503,448 0/1:-827.28,0,-1004.29:885:461:407:12831:14886:461,407 1/1:-2847.74,-309.49,0:1088:6:1069:33767:159:6,1069 . 0/1:-1118.22,0,-1041.3:1041:500:526:16816:15787:500,526 1/1:-2365.86,-248.485,0:920:8:899:28005:279:8,899 0/1:-938.257,0,-902.875:859:405:441:14007:13373:405,441 . chr1 227075772 . G A 13309.70 . AB=0.455689;ABP=32.8386;AC=1;AF=0.5;AN=2;AO=797;CIGAR=1X;DP=1749;DPB=1749;DPRA=0;EPP=88.368;EPPR=42.5407;GTI=0;LEN=1;MEANALT=3;MQM=36.9624;MQMR=37.9733;NS=1;NUMALT=1;ODDS=3064.68;PAIRED=0.953576;PAIREDR=0.946667;PAO=0;PQA=0;PQR=0;PRO=0;QA=22599;QR=27201;RO=900;RPL=316;RPP=77.1864;RPPR=130.645;RPR=481;RUN=1;SAF=442;SAP=23.6325;SAR=355;SF=0;SRF=491;SRP=19.2336;SRR=409;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201919671;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.767e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6262;dpsi_zscore=-1.209;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.655e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-1358.81,0,-1746.79:1749:900:797:22599:27201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 227075813 . A G 12940.60 . AB=0.455965;ABP=29.9753;AC=2;AF=0.5;AN=4;AO=730;CIGAR=1X;DP=2778;DPB=1601;DPRA=0;EPP=56.4226;EPPR=21.2744;GTI=0;LEN=1;MEANALT=3;MQM=39.9329;MQMR=40.3376;NS=1;NUMALT=1;ODDS=3273.06;PAIRED=0.987671;PAIREDR=0.970896;PAO=0;PQA=0;PQR=0;PRO=0;QA=22249;QR=27423;RO=859;RPL=324;RPP=23.0116;RPPR=15.0457;RPR=406;RUN=1;SAF=342;SAP=9.3046;SAR=388;SF=1;SRF=396;SRP=14.3581;SRR=463;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon7:c.A520G:p.M174V,PSEN2:NM_012486:exon7:c.A520G:p.M174V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000399361;avsnp147=rs61757781;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0.0023;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.242;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.981;MutationTaster_pred=D;MutationAssessor_score=0.515;MutationAssessor_pred=N;FATHMM_score=-5.82;FATHMM_pred=D;PROVEAN_score=-0.12;PROVEAN_pred=N;VEST3_score=0.546;CADD_raw=1.890;CADD_phred=15.53;DANN_score=0.971;fathmm-MKL_coding_score=0.846;fathmm-MKL_coding_pred=D;MetaSVM_score=0.675;MetaSVM_pred=D;MetaLR_score=0.871;MetaLR_pred=D;integrated_fitCons_score=0.626;integrated_confidence_value=0;GERP++_RS=3.59;phyloP7way_vertebrate=0.020;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=6.099;GDI_full_10282015=.;dpsi_max_tissue=1.0548;dpsi_zscore=1.553;hgmdCODING=HGMD::Alzheimer_disease#18667258;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM083053#"Alzheimer_disease";gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1440.03,0,-1885.56:1601:859:730:22249:27423:859,730 . 0/1:-1176.53,0,-1258.81:1177:588:571:17729:18729:588,571 . . . . . . . . chr1 227075920 . A G 5110.27 . AB=0.457014;ABP=13.6515;AC=2;AF=0.5;AN=4;AO=303;CIGAR=1X;DP=1459;DPB=663;DPRA=0;EPP=20.2172;EPPR=3.18155;GTI=0;LEN=1;MEANALT=3;MQM=34.5875;MQMR=37.0189;NS=1;NUMALT=1;ODDS=1033.11;PAIRED=0.914191;PAIREDR=0.943218;PAO=0;PQA=0;PQR=0;PRO=0;QA=8117;QR=9284;RO=317;RPL=138;RPP=8.23473;RPPR=47.9536;RPR=165;RUN=1;SAF=97;SAP=88.1564;SAR=206;SF=0,1;SRF=104;SRP=84.396;SRR=213;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0113;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0113;1000g2015aug_all=0.00419329;avsnp147=rs149734051;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0995;dpsi_zscore=-0.447;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0166;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0452;gnomAD_genome_NFE=0.0214;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-467.177,0,-576.379:663:317:303:8117:9284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-832.452,0,-743.098:796:380:402:12410:11455:380,402 . . . . . . . . . . . . . chr1 227076671 . T C 12134.14 . AB=0.489051;ABP=3.86621;AC=4;AF=0.5;AN=8;AO=402;CIGAR=1X;DP=6361;DPB=822;DPRA=0;EPP=7.87181;EPPR=5.01516;GTI=0;LEN=1;MEANALT=3;MQM=33.6642;MQMR=36.6675;NS=1;NUMALT=1;ODDS=1493;PAIRED=0.905473;PAIREDR=0.877238;PAO=0;PQA=0;PQR=0;PRO=0;QA=11703;QR=11245;RO=391;RPL=259;RPP=75.6952;RPPR=43.1353;RPR=143;RUN=1;SAF=179;SAP=13.4679;SAR=223;SF=0,1;SRF=183;SRP=6.48132;SRR=208;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon8:c.T708C:p.S236S,PSEN2:NM_012486:exon8:c.T708C:p.S236S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0073;1000g2015aug_all=0.0291534;avsnp147=rs61730652;Kaviar_AF=0.0127941;Kaviar_AC=1978;Kaviar_AN=154602;ExAC_ALL=0.0130;ExAC_AFR=0.0901;ExAC_AMR=0.0095;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0064;ExAC_OTH=0.0077;ExAC_SAS=0.0052;CLNALLELEID=249751;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1070;dpsi_zscore=0.504;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0115;gnomAD_exome_AFR=0.0908;gnomAD_exome_AMR=0.0090;gnomAD_exome_ASJ=0.0204;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0021;gnomAD_exome_NFE=0.0062;gnomAD_exome_OTH=0.0100;gnomAD_exome_SAS=0.0048;gnomAD_genome_ALL=0.0277;gnomAD_genome_AFR=0.0852;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-665.068,0,-676.444:822:391:402:11703:11245 . 0/1:-1305.26,0,-1526.83:1750:874:803:23622:25976 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1488.04,0,-1528.68:1955:938:955:27396:26738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1645.9,0,-1949.5:1834:948:852:26297:29205:948,852 . . . . . chr1 227078955 . T C 14192.79 . AB=0;ABP=0;AC=183;AF=1;AN=224;AO=711;CIGAR=1X;DP=101850;DPB=725;DPRA=0;EPP=27.2019;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=31.4473;MQMR=22.5;NS=1;NUMALT=1;ODDS=965.259;PAIRED=0.890295;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=19618;QR=85;RO=4;RPL=242;RPP=160.386;RPPR=11.6962;RPR=469;RUN=1;SAF=437;SAP=84.155;SAR=274;SF=0,1;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7801;esp6500siv2_ea=0.7797;esp6500siv2_all=0.7801;esp6500siv2_ea=0.7797;1000g2015aug_all=0.722843;avsnp147=rs2802267;Kaviar_AF=0.741077;Kaviar_AC=114572;Kaviar_AN=154602;ExAC_ALL=0.7643;ExAC_AFR=0.7748;ExAC_AMR=0.7454;ExAC_EAS=0.5929;ExAC_FIN=0.7959;ExAC_NFE=0.7860;ExAC_OTH=0.7900;ExAC_SAS=0.7593;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0054;dpsi_zscore=-0.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7556;gnomAD_exome_AFR=0.7691;gnomAD_exome_AMR=0.7395;gnomAD_exome_ASJ=0.7559;gnomAD_exome_EAS=0.5739;gnomAD_exome_FIN=0.7879;gnomAD_exome_NFE=0.7796;gnomAD_exome_OTH=0.7732;gnomAD_exome_SAS=0.7563;gnomAD_genome_ALL=0.7564;gnomAD_genome_AFR=0.7697;gnomAD_genome_AMR=0.7488;gnomAD_genome_ASJ=0.7733;gnomAD_genome_EAS=0.5608;gnomAD_genome_FIN=0.7861;gnomAD_genome_NFE=0.7624;gnomAD_genome_OTH=0.7633;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1483.13,-210.294,0:725:4:711:19618:85 0/1:-698.443,0,-762.679:1058:502:498:13524:13560 1/1:-1700.25,-237.72,0:846:8:823:22923:152 1/1:-1020.46,-140.741,0:510:3:495:13570:104 0/1:-633.801,0,-690.014:970:460:453:12349:12691 1/1:-2286.73,-328.577,0:1129:2:1096:30371:35 0/1:-531.54,0,-549.006:745:349:354:9725:9703 0/1:-676.526,0,-703.981:967:441:471:12764:12895 1/1:-1638.22,-233.578,0:803:3:784:21332:62 0/1:-650.357,0,-739.696:1024:483:479:12689:13562 0/1:-556.98,0,-723.432:902:447:408:10820:12607 0/1:-546.62,0,-583.711:803:386:373:9983:10681 1/1:-1681.59,-246.125,0:844:3:830:22136:64 1/1:-1218.44,-178.313,0:643:6:617:16870:146 1/1:-1499.82,-213.068,0:760:6:734:20089:128 . 1/1:-1374.42,-200.921,0:709:6:679:18755:109 1/1:-3737.47,-533.314,0:1859:11:1814:49015:259 0/1:-633.49,0,-634.724:907:426:428:11588:11570 1/1:-1224.89,-180.016,0:609:0:598:16392:0 0/1:-474.807,0,-545.124:682:332:322:8910:9604 0/1:-758.833,0,-818.417:1060:501:502:13775:14169 0/1:-382.43,0,-362.883:536:245:267:7139:6856 1/1:-2307.27,-329.716,0:1130:3:1102:30207:60 1/1:-2092.48,-285.355,0:1026:8:1005:27919:227 1/1:-1274.35,-193.863,0:664:0:644:17775:0 1/1:-1805.24,-262.581,0:907:4:882:23964:76 0/1:-647.997,0,-679.514:931:423:445:12332:11859 1/1:-1227.93,-178.923,0:653:8:627:16739:172 1/1:-1483.5,-215.629,0:750:2:729:19721:50 1/1:-1639.1,-231.728,0:796:3:776:21579:42 1/1:-2185.95,-307.271,0:1085:6:1046:29105:126 1/1:-2078.69,-294.595,0:1016:3:991:27316:64 1/1:-1684.24,-247.951,0:852:3:833:22275:42 1/1:-1859.64,-251.821,0:913:10:881:24214:224 0/1:-866.105,0,-582.153:1054:425:563:15132:11607 0/1:-687.765,0,-910.552:1142:567:489:13342:16148 1/1:-1815.87,-240.023,0:864:9:840:23960:250 0/1:-627.104,0,-649.727:925:435:441:11923:11938 1/1:-1292.39,-185.228,0:645:3:628:17296:60 0/1:-822.22,0,-863.365:1144:539:548:15033:15154 1/1:-1679.38,-248.952,0:852:0:827:22150:0 1/1:-1905.33,-286.262,0:983:3:955:25474:55 1/1:-1531.34,-218.736,0:765:4:744:20628:87 1/1:-2057.07,-284.449,0:1008:8:981:27211:163 1/1:-1817.2,-258.051,0:917:10:893:23804:220 1/1:-1736.66,-248.428,0:865:7:845:23288:164 1/1:-1027.29,-139.93,0:505:5:491:13360:136 1/1:-1364.38,-189.937,0:658:2:640:18120:46 1/1:-2210.71,-309.122,0:1101:12:1073:29494:313 0/1:-868.916,0,-648.552:1047:444:548:15279:12480 1/1:-1419.99,-214.94,0:753:2:732:20071:68 1/1:-2415.38,-331.391,0:1170:8:1140:31449:192 1/1:-1870.93,-268.109,0:957:8:924:24867:178 0/1:-417.742,0,-407.463:654:294:322:8442:7929 0/1:-457.396,0,-562.014:730:352:341:9170:9868 1/1:-1732.33,-248.488,0:865:3:837:22957:82 1/1:-985.271,-151.984,0:533:3:515:13587:62 1/1:-1260.1,-173.05,0:638:9:623:17217:236 0/1:-730.6,0,-562.591:961:411:493:13136:11237 1/1:-1015.61,-150.659,0:526:1:510:13996:36 0/1:-846.853,0,-880.477:1197:561:576:16038:16144 1/1:-1806.94,-250.327,0:870:3:847:23625:82 1/1:-1100.49,-162.327,0:581:3:559:15055:77 1/1:-2253.56,-319.482,0:1123:7:1095:29993:204 1/1:-1759.64,-247.594,0:879:6:859:23632:188 0/1:-315.727,0,-305.542:472:212:235:6310:5990 0/1:-632.762,0,-599.992:838:371:407:11240:10906 1/1:-1499.43,-218.789,0:779:4:757:20376:118 0/1:-575.696,0,-655.233:899:427:422:11276:11854 0/1:-632.483,0,-680.739:933:452:430:11880:12341 0/1:-948.052,0,-1100.9:1354:670:618:17354:19277 1/1:-1826.78,-252.755,0:901:5:879:24085:176 1/1:-911.798,-146.288,0:511:1:489:12898:14 1/1:-1413.76,-204.605,0:719:5:693:19136:70 0/1:-724.83,0,-663.689:995:445:482:13487:12306 1/1:-2071.01,-289.758,0:1041:7:1008:27993:195 0/1:-690.356,0,-936.289:1149:573:509:13572:16368 0/1:-372.684,0,-456.284:599:299:260:7075:8113 0/1:-498.589,0,-471.684:655:304:312:8751:8636 0/1:-700.457,0,-650.5:969:425:486:12950:12056 0/1:-714.578,0,-879.449:1083:530:491:13610:15421 1/1:-1919.9,-272.16,0:1023:14:983:25925:346 1/1:-1522.88,-214.606,0:768:6:741:20398:128 1/1:-1429.1,-205.833,0:736:7:718:19413:158 0/1:-558.024,0,-646.095:824:398:382:10537:11410 1/1:-1164.33,-161.749,0:576:6:559:15448:106 1/1:-1953.72,-277.617,0:992:8:966:25879:222 . 0/1:-594.224,0,-533.149:815:365:417:11161:10215 1/1:-2543.47,-360.332,0:1274:9:1237:34079:196 0/1:-585.586,0,-639.769:866:430:393:10721:11863 0/1:-908.369,0,-962.198:1292:611:612:16481:17393 . 1/1:-1984.62,-274.957,0:1023:11:983:26948:304 . 0/1:-1121.96,0,-1245.86:1218:621:572:17662:18775:621,572 1/1:-2976.62,-337.849,0:1152:2:1135:35262:50:2,1135 1/1:-2977.93,-341.148,0:1156:3:1136:35350:49:3,1136 1/1:-1813.95,-201.959,0:699:2:690:21454:72:2,690 1/1:-2447.61,-277.839,0:944:1:930:28846:27:1,930 1/1:-3008.4,-337.712,0:1168:4:1149:35591:105:4,1149 1/1:-2595.09,-289.385,0:1008:4:992:30874:118:4,992 1/1:-3061.34,-338.483,0:1183:7:1166:36305:177:7,1166 1/1:-2390.03,-269.707,0:928:2:915:28488:72:2,915 1/1:-2970.22,-321.559,0:1180:13:1161:35695:367:13,1161 1/1:-3155.56,-344.188,0:1219:6:1193:37315:190:6,1193 1/1:-2181.1,-234.02,0:839:5:825:25688:180:5,825 0/1:-993.017,0,-948.481:1012:481:506:15299:14776:481,506 1/1:-2402.8,-267.131,0:927:4:909:28429:96:4,909 1/1:-2826.34,-317.658,0:1129:7:1107:33790:200:7,1107 0/1:-1103.36,0,-971.586:1067:500:549:16801:15269:500,549 1/1:-3022.03,-345.522,0:1188:3:1162:35824:67:3,1162 1/1:-2369.62,-263.525,0:906:2:892:27859:63:2,892 0/1:-897.246,0,-1021.26:963:497:453:14026:15680:497,453 0/1:-1086.92,0,-1187.53:1152:580:543:16756:17881:580,543 chr1 227081847 . CCAG CCAA 14494.37 . AB=0;ABP=0;AC=6;AF=1;AN=6;AO=436;CIGAR=3M1X;DP=1994;DPB=501;DPRA=0;EPP=7.4927;EPPR=3.0103;GTI=0;LEN=1;MEANALT=12;MQM=39.711;MQMR=38.3333;NS=1;NUMALT=1;ODDS=562.507;PAIRED=0.979358;PAIREDR=1;PAO=6.5;PQA=128;PQR=45;PRO=1.5;QA=12629;QR=189;RO=6;RPL=293;RPP=115.07;RPPR=4.45795;RPR=143;RUN=1;SAF=216;SAP=3.08999;SAR=220;SF=1;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1074.99,-120.599,0:498:6:436:12629:189:6,436 . . . . . . . . . . 1/1:-1739.3,-209.365,0:805:8:709:20429:226:8,709 . . 1/1:-1591.51,-189.918,0:691:4:636:18656:122:4,636 . . chr1 227081848 . CAG CAA 15992.70 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=658;CIGAR=2M1X;DP=743;DPB=748.333;DPRA=0;EPP=3.0103;EPPR=7.94546;GTI=0;LEN=1;MEANALT=12;MQM=39.3769;MQMR=38.1818;NS=1;NUMALT=1;ODDS=827.728;PAIRED=0.984802;PAIREDR=1;PAO=13;PQA=188;PQR=53;PRO=2;QA=19151;QR=354;RO=11;RPL=449;RPP=193.097;RPPR=3.20771;RPR=209;RUN=1;SAF=276;SAP=40.0903;SAR=382;SF=1;SRF=5;SRP=3.20771;SRR=6;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1624.54,-177.144,0:743:11:658:19151:354:11,658 . . . . . . . chr1 227081850 . G A 8809.33 . AB=0.395983;ABP=68.5127;AC=137;AF=0.5;AN=192;AO=276;CIGAR=1X;DP=85982;DPB=697;DPRA=0;EPP=3.04177;EPPR=12.4515;GTI=0;LEN=1;MEANALT=3;MQM=31.5616;MQMR=31.8587;NS=1;NUMALT=1;ODDS=676.283;PAIRED=0.927536;PAIREDR=0.858696;PAO=0;PQA=0;PQR=0;PRO=0;QA=6525;QR=10987;RO=368;RPL=174;RPP=43.7962;RPPR=50.8063;RPR=102;RUN=1;SAF=121;SAP=12.1053;SAR=155;SF=0,1;SRF=171;SRP=6.9992;SRR=197;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.5378;esp6500siv2_ea=0.5608;esp6500siv2_all=0.5378;esp6500siv2_ea=0.5608;1000g2015aug_all=0.574081;avsnp147=rs2855562;Kaviar_AF=0.556481;Kaviar_AC=86033;Kaviar_AN=154602;ExAC_ALL=0.5757;ExAC_AFR=0.4945;ExAC_AMR=0.6755;ExAC_EAS=0.6536;ExAC_FIN=0.6065;ExAC_NFE=0.5668;ExAC_OTH=0.6067;ExAC_SAS=0.5375;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1221;dpsi_zscore=0.547;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5789;gnomAD_exome_AFR=0.4836;gnomAD_exome_AMR=0.6677;gnomAD_exome_ASJ=0.6477;gnomAD_exome_EAS=0.6511;gnomAD_exome_FIN=0.5970;gnomAD_exome_NFE=0.5551;gnomAD_exome_OTH=0.6049;gnomAD_exome_SAS=0.5353;gnomAD_genome_ALL=0.5439;gnomAD_genome_AFR=0.4892;gnomAD_genome_AMR=0.6730;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.6568;gnomAD_genome_FIN=0.6025;gnomAD_genome_NFE=0.5390;gnomAD_genome_OTH=0.5680;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-308.348,0,-614.069:697:368:276:6525:10987 . 0/1:-503.379,0,-816.737:949:474:416:9801:14281 1/1:-852.392,-124.654,0:566:19:495:11471:353 0/1:-444.344,0,-825.442:966:479:428:9950:14096 1/1:-2037.11,-286.109,0:1256:34:1099:27162:671 . 0/1:-516.197,0,-750.981:977:448:444:10357:13269 1/1:-1286.11,-174.084,0:856:37:731:17400:717 0/1:-447.173,0,-743.232:908:457:396:9734:13806 . 0/1:-450.002,0,-791.055:884:465:371:9063:14103 1/1:-1272.23,-186.758,0:845:31:724:17457:561 1/1:-981.656,-155.826,0:685:18:576:13738:309 . . 1/1:-1060.57,-169.647,0:689:17:611:14559:251 0/1:-1135.67,0,-1435.57:1958:905:924:22039:26786 0/1:-490.743,0,-783.066:914:458:405:9635:13609 1/1:-918.392,-152.235,0:625:15:548:12758:249 0/1:-313.984,0,-654.396:661:359:271:6493:10658 . . 1/1:-1723.63,-267.749,0:1139:26:987:23207:444 1/1:-1582.34,-226.648,0:1040:30:865:20637:513 1/1:-966.712,-157.446,0:700:25:592:14135:406 1/1:-1397.11,-205.363,0:985:36:842:19257:769 . 0/1:-389.905,0,-518.545:722:327:334:8001:9745 0/1:-332.042,0,-611.856:684:340:292:6684:10272 1/1:-1176.71,-166.397,0:737:21:646:15607:431 1/1:-1715.93,-251.331,0:1102:30:951:23486:524 0/1:-551.241,0,-1046.22:1114:580:465:11228:17634 1/1:-1646.43,-240.821,0:1079:30:926:22058:591 1/1:-1369.22,-211.087,0:913:28:797:18755:511 0/1:-525.379,0,-872.161:1038:529:438:10729:15767 0/1:-624.407,0,-1010.34:1180:575:522:12287:17597 1/1:-1271.99,-200.181,0:838:18:722:16843:300 0/1:-501.374,0,-787.933:948:467:423:10311:13795 1/1:-1103.63,-166.459,0:689:18:613:14421:307 0/1:-580.337,0,-904.424:1069:516:496:11693:15655 0/1:-493.999,0,-611.482:841:397:402:9668:11505 1/1:-1419.81,-209.976,0:892:23:779:18709:388 0/1:-487.707,0,-640.182:860:392:406:9630:11679 0/1:-650.294,0,-826.329:1136:514:536:12796:15501 1/1:-1479.92,-226.468,0:908:13:793:19515:208 1/1:-1598.41,-249.281,0:1006:19:881:20997:273 1/1:-863.809,-135.854,0:577:14:488:11480:196 1/1:-1152.98,-180.965,0:736:11:638:15225:167 1/1:-1768.88,-261.727,0:1115:28:985:23668:567 0/1:-558.935,0,-962.641:1098:546:474:11538:16343 1/1:-1295.17,-202.42,0:902:30:769:18245:477 1/1:-1639.14,-252.728,0:1057:25:926:21765:470 1/1:-1845.07,-284.363,0:1208:36:1047:24735:559 0/1:-252.479,0,-491.54:636:315:274:6205:9281 0/1:-293.235,0,-625.298:671:363:270:6511:10580 0/1:-492.671,0,-888.596:994:511:429:10216:15046 1/1:-734.013,-105.078,0:534:24:448:10632:523 1/1:-928.563,-136.581,0:690:34:565:12940:560 0/1:-517.389,0,-963.456:1086:562:457:10690:16367 0/1:-201.53,0,-508.451:551:303:207:4781:9011 0/1:-592.581,0,-1006.81:1211:606:528:12463:17764 1/1:-1357.01,-208.403,0:883:23:772:18400:406 1/1:-966.355,-155.552,0:644:18:568:13310:331 1/1:-1688.41,-251.865,0:1101:33:950:22459:550 1/1:-1532.81,-227.661,0:954:22:828:20143:369 0/1:-243.633,0,-483.994:556:298:219:5312:9112 0/1:-459.628,0,-816.996:936:481:397:9436:14228 1/1:-1369.6,-204.118,0:913:30:781:18493:495 . 0/1:-479.086,0,-729.851:923:456:419:9944:13235 0/1:-653.332,0,-1016.4:1220:610:540:12953:18096 0/1:-572.925,0,-915.5:1098:533:494:11506:15981 0/1:-273.219,0,-393.033:568:281:249:6155:8021 0/1:-440.324,0,-543.44:699:326:332:8292:9702 0/1:-580.114,0,-1011.53:1188:598:503:11893:17709 1/1:-1637.58,-249.478,0:1083:32:926:21805:508 0/1:-485.23,0,-835.916:1003:504:429:10053:15098 0/1:-276.041,0,-571.124:649:350:271:6211:10299 0/1:-299.061,0,-461.542:569:280:249:5786:8534 0/1:-493.84,0,-725.333:905:429:409:9830:12774 0/1:-439.702,0,-1004.52:1040:571:398:9759:17239 0/1:-634.574,0,-863.056:1059:512:485:12121:15374 1/1:-1327.62,-200.908,0:889:23:767:18089:474 . . 1/1:-1039.95,-150.917,0:685:20:582:13910:371 1/1:-1455.57,-220.804,0:965:26:827:18908:534 . 0/1:-470.14,0,-678.094:862:425:384:9223:12565 1/1:-1739.02,-267.127,0:1137:24:985:23021:473 0/1:-469.831,0,-730.944:923:443:402:9633:13169 0/1:-692.181,0,-920.221:1188:557:551:13578:16667 . 1/1:-1731.04,-253.117,0:1120:31:967:23425:617 . 0/1:-823.111,0,-989.505:955:476:455:12887:14903:476,455 0/1:-773.868,0,-897.282:874:430:418:12000:13474:430,418 0/1:-789.367,0,-784.327:848:386:427:12140:12223:386,427 . 0/1:-649.836,0,-795.285:758:374:361:10199:11863:374,361 1/1:-1916.41,-226.171,0:851:9:807:22898:232:9,807 0/1:-614.544,0,-717.534:716:344:356:9977:10792:344,356 0/1:-836.814,0,-732.293:846:368:451:12684:11425:368,451 1/1:-1655.69,-195.495,0:707:4:678:19534:118:4,678 0/1:-777.924,0,-930.538:877:433:411:12176:13797:433,411 0/1:-726.141,0,-816.315:813:395:390:11105:12394:395,390 0/1:-608.244,0,-632.048:656:313:328:9316:9830:313,328 . 0/1:-636.765,0,-630.346:680:307:350:9867:9650:307,350 . . 0/1:-698.278,0,-885.348:846:419:390:11133:13110:419,390 . 0/1:-631.689,0,-695.902:673:322:334:9701:10371:322,334 . chr1 228399479 . ACCC ACCG,CCCC 3023.09 . AB=0;ABP=0;AC=4,0;AF=0;AN=40;AO=68;CIGAR=1X;DP=14585;DPB=782;DPRA=0;EPP=3.52123;EPPR=31.991;GTI=0;LEN=1;MEANALT=3;MQM=37.1176;MQMR=37.922;NS=1;NUMALT=1;ODDS=615.08;PAIRED=0.926471;PAIREDR=0.953191;PAO=0;PQA=0;PQR=0;PRO=0;QA=1416;QR=18559;RO=705;RPL=33;RPP=3.13803;RPPR=95.1947;RPR=35;RUN=1;SAF=65;SAP=125.762;SAR=3;SF=1;SRF=452;SRP=124.985;SRR=253;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic\x3bncRNA_intronic\x3bncRNA_intronic;Gene.refGene=C1orf145;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=C1orf145;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8957;dpsi_zscore=1.934;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-1422.84:782:705:.,68:.,1416:18559:705,68 1/1:-1531.15,-197.16,0,.,.,.:728:6:621,.:18804,.:156:6,621 0/0:.,.,.,.,.,-1670.8:835:780:.,45:.,1057:21127:780,45 0/0:.,.,.,.,.,-788.221:397:366:.,25:.,522:9696:366,25 0/0:.,.,.,.,.,-1347.86:714:655:.,53:.,1327:17466:655,53 0/0:.,.,.,.,.,-1643.33:844:776:.,54:.,1309:20867:776,54 0/0:.,.,.,.,.,-1405.3:735:682:.,45:.,1082:17734:682,45 0/0:.,.,.,.,.,-1531.27:809:738:.,65:.,1282:19455:738,65 0/0:.,.,.,.,.,-1396.7:721:663:.,43:.,938:17592:663,43 0/0:.,.,.,.,.,-1437.19:808:726:.,77:.,1639:18770:726,77 1/1:-1839.15,-227.099,0,.,.,.:849:6:729,.:22156,.:137:6,729 0/0:.,.,.,.,.,-1054.9:567:517:.,48:.,975:13493:517,48 0/0:.,.,.,.,.,-1228.16:677:611:.,54:.,1310:16055:611,54 0/0:.,.,.,.,.,-1301.63:686:618:.,60:.,1230:16837:618,60 0/0:.,.,.,.,.,-1455.14:828:752:.,62:.,1527:19219:752,62 0/0:.,.,.,.,.,-1265.94:660:610:.,48:.,978:16238:610,48 0/0:.,.,.,.,.,-1499.78:776:714:.,47:.,1163:18983:714,47 0/0:.,.,.,.,.,-1232.01:646:585:.,56:.,1093:15827:585,56 0/0:.,.,.,.,.,-1222.37:666:598:.,60:.,1213:16011:598,60 0/0:.,.,.,.,.,-1672.05:857:793:.,57:.,1189:21207:793,57 chr1 228399480 . CCC CCG 19956.28 . AB=0;ABP=0;AC=12;AF=1;AN=12;AO=683;CIGAR=2M1X;DP=4610;DPB=750.333;DPRA=0;EPP=59.2492;EPPR=3.44459;GTI=0;LEN=1;MEANALT=10;MQM=38.3045;MQMR=38;NS=1;NUMALT=1;ODDS=972.146;PAIRED=0.935578;PAIREDR=0.8;PAO=81;PQA=2510.5;PQR=45.5;PRO=7;QA=20823;QR=138;RO=5;RPL=300;RPP=24.9126;RPPR=3.44459;RPR=383;RUN=1;SAF=429;SAP=100.377;SAR=254;SF=1;SRF=5;SRP=13.8677;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic\x3bncRNA_intronic\x3bncRNA_intronic;Gene.refGene=C1orf145;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1945.49,-222.676,0:721:5:683:20823:138:5,683 1/1:-2229.87,-244.114,0:846:15:802:24170:426:15,802 1/1:-1958.83,-218.658,0:740:10:707:21387:265:10,707 . . . . . 1/1:-1740.84,-200.61,0:679:8:633:19103:192:8,633 . 1/1:-2154.43,-245.926,0:841:9:785:23583:234:9,785 . 1/1:-2100.95,-238.049,0:783:5:741:22596:155:5,741 . . . chr1 228399481 . CC CG 21879.10 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=806;CIGAR=1M1X;DP=842;DPB=873.5;DPRA=0;EPP=34.4347;EPPR=10.8276;GTI=0;LEN=1;MEANALT=7;MQM=37.9777;MQMR=30.4;NS=1;NUMALT=1;ODDS=1088.19;PAIRED=0.926799;PAIREDR=0.9;PAO=63;PQA=1928;PQR=0;PRO=0;QA=24607;QR=245;RO=10;RPL=296;RPP=126.391;RPPR=3.87889;RPR=510;RUN=1;SAF=499;SAP=102.327;SAR=307;SF=1;SRF=6;SRP=3.87889;SRR=4;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic\x3bncRNA_intronic\x3bncRNA_intronic;Gene.refGene=C1orf145;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2215.47,-244.754,0:842:10:806:24607:245:10,806 . . . . . . . . . . . . . . . . . chr1 228399482 . C G 7056.68 . AB=0.446429;ABP=15.5738;AC=122;AF=0.5;AN=184;AO=225;CIGAR=1X;DP=64181;DPB=504;DPRA=0;EPP=4.64132;EPPR=7.24908;GTI=0;LEN=1;MEANALT=3;MQM=27.32;MQMR=27.0554;NS=1;NUMALT=1;ODDS=566.642;PAIRED=0.942222;PAIREDR=0.926199;PAO=0;PQA=0;PQR=0;PRO=0;QA=5866;QR=8003;RO=271;RPL=83;RPP=36.6054;RPPR=41.1593;RPR=142;RUN=1;SAF=151;SAP=60.231;SAR=74;SF=0,1;SRF=169;SRP=38.9798;SRR=102;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=C1orf145;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6342;esp6500siv2_ea=0.6129;esp6500siv2_all=0.6342;esp6500siv2_ea=0.6129;1000g2015aug_all=0.721046;avsnp147=rs11804508;Kaviar_AF=0.576681;Kaviar_AC=89156;Kaviar_AN=154602;ExAC_ALL=0.6570;ExAC_AFR=0.6684;ExAC_AMR=0.6065;ExAC_EAS=0.8257;ExAC_FIN=0.6696;ExAC_NFE=0.6207;ExAC_OTH=0.6824;ExAC_SAS=0.7884;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2212;dpsi_zscore=0.763;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6480;gnomAD_exome_AFR=0.6555;gnomAD_exome_AMR=0.5965;gnomAD_exome_ASJ=0.5985;gnomAD_exome_EAS=0.8234;gnomAD_exome_FIN=0.6513;gnomAD_exome_NFE=0.6047;gnomAD_exome_OTH=0.6380;gnomAD_exome_SAS=0.7706;gnomAD_genome_ALL=0.6405;gnomAD_genome_AFR=0.6595;gnomAD_genome_AMR=0.5919;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8323;gnomAD_genome_FIN=0.6405;gnomAD_genome_NFE=0.6098;gnomAD_genome_OTH=0.6643;Whole_Blood=Whole_Blood::0.352304::-0.320807;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-262.945,0,-376.704:504:271:225:5866:8003 . 0/1:-422.126,0,-436.928:687:327:349:9075:9405 1/1:-807.847,-124.309,0:493:23:465:12350:366 1/1:-1134.9,-190.23,0:694:15:669:17571:265 . . . 0/1:-378.516,0,-504.232:635:322:305:8037:9609 0/1:-469.789,0,-546.165:809:396:398:10082:11909 . 0/1:-456.639,0,-479.892:733:338:389:10084:10183 0/1:-327.299,0,-375.783:559:271:276:7123:8040 0/1:-283.414,0,-321.724:540:257:275:7054:7646 1/1:-960.161,-150.378,0:571:12:553:14355:278 1/1:-1749.63,-267.38,0:1024:30:981:25988:524 . 1/1:-2728.08,-419.215,0:1552:32:1501:39662:569 1/1:-1192.93,-191.765,0:690:10:667:17598:188 1/1:-833.145,-128.578,0:528:18:502:13161:366 0/1:-295.063,0,-318.219:461:229:227:6216:6620 1/1:-1284.93,-215.123,0:752:7:732:19030:105 0/1:-242.566,0,-233.458:395:180:209:5554:5251 0/1:-579.754,0,-534.294:859:395:446:12084:11637 1/1:-1358.83,-217.405,0:785:10:770:20018:206 0/1:-324.422,0,-413.308:591:289:291:7556:8641 1/1:-1367.97,-210.271,0:755:11:731:19329:220 1/1:-1100.34,-168.408,0:641:17:609:15599:302 0/1:-327.362,0,-287.215:526:232:286:7291:6654 1/1:-1111.38,-176.135,0:623:9:609:16298:186 1/1:-1050.63,-168.517,0:625:14:605:16038:278 0/1:-487.337,0,-401.733:710:321:380:10191:9300 0/1:-493.828,0,-457.301:746:326:401:10404:9435 0/1:-439.039,0,-513.328:709:343:359:9092:10239 1/1:-1144.66,-176.626,0:648:14:624:16706:282 0/1:-514.473,0,-506.179:832:385:437:11384:11118 0/1:-510.3,0,-650.298:869:436:423:10897:13022 . . 0/1:-270.819,0,-306.033:455:219:231:6290:6710 0/1:-541.514,0,-525.055:807:369:426:11268:11247 1/1:-1255.06,-202.467,0:744:12:714:18438:246 1/1:-1210.32,-181.259,0:707:19:676:18152:382 0/1:-467.616,0,-417.117:658:289:364:9472:8753 0/1:-612.164,0,-511.776:864:378:473:12494:11337 1/1:-1094.24,-156.467,0:647:26:608:15724:550 0/1:-534.632,0,-414.976:734:322:397:10410:9300 0/1:-241.152,0,-285.964:403:199:198:5284:5757 1/1:-902.428,-150.825,0:519:6:506:13184:91 1/1:-1513.45,-236.53,0:893:21:858:22270:450 1/1:-1469.34,-229.519,0:822:11:796:21143:183 0/1:-308.546,0,-443.84:655:323:322:8323:9442 0/1:-546.046,0,-584.802:875:416:450:12100:12302 1/1:-1640.12,-281.732,0:988:12:964:24697:168 0/1:-252.562,0,-297.115:474:223:244:6247:6436 1/1:-1020.64,-165.078,0:568:5:560:14817:88 1/1:-1296.29,-201.074,0:748:16:719:19133:246 0/1:-208.445,0,-284.063:412:209:197:4855:6121 0/1:-318.646,0,-284.455:489:208:271:6631:6074 . 0/1:-255.326,0,-282.387:469:221:238:5902:6456 1/1:-1560.94,-239.497,0:945:28:902:23354:583 0/1:-469.045,0,-396.717:650:295:346:9311:8651 0/1:-294.465,0,-307.937:513:236:266:6733:6766 0/1:-484.547,0,-653.35:885:449:425:10885:13213 1/1:-1302.2,-214.178,0:794:21:755:19479:347 0/1:-186.927,0,-199.632:372:176:190:4933:5184 . . 0/1:-401.34,0,-453.666:701:340:353:9154:9826 . 0/1:-569.308,0,-645.01:907:441:452:12060:12956 0/1:-461.208,0,-584.71:845:416:415:10488:12402 0/1:-273.238,0,-277.664:499:237:249:6302:6601 1/1:-1040.36,-167.982,0:597:8:583:15230:147 1/1:-1453.25,-214.971,0:890:33:844:22232:785 0/1:-445.348,0,-545.461:731:367:356:9488:10693 1/1:-1489.39,-233.72,0:891:25:854:22435:447 0/1:-307.737,0,-367:494:243:242:6651:7220 0/1:-201.654,0,-241.701:355:178:175:4557:5155 0/1:-409.329,0,-443.384:701:332:360:9384:9521 0/1:-439.921,0,-563.067:784:385:390:10128:11559 0/1:-425.588,0,-604.406:793:404:379:9886:11969 1/1:-1107.87,-176.457,0:679:16:656:17167:370 0/1:-376.124,0,-434.688:635:308:317:8117:9165 0/1:-382.23,0,-415.65:665:319:328:8406:9107 0/1:-381.599,0,-287.607:516:216:296:7740:6487 . . 0/1:-409.054,0,-405.071:646:289:351:8981:8571 0/1:-480.635,0,-573.005:832:414:401:10472:12545 0/1:-429.36,0,-413.261:670:304:357:9298:9100 0/1:-550.089,0,-496.775:809:358:434:11405:10830 1/1:-1303.47,-192.834,0:779:19:749:19508:497 0/1:-543.551,0,-496.267:805:360:435:11270:10602 . 0/1:-930.07,0,-747.482:880:392:472:14082:12161:392,472 . . 0/1:-389.134,0,-417.53:422:208:208:6120:6349:208,208 . . . 0/1:-783.784,0,-939.408:885:461:417:12503:14232:461,417 0/1:-764.215,0,-745.426:778:372:396:11947:11663:372,396 0/1:-913.023,0,-781.454:904:423:471:14018:12931:423,471 . 0/1:-619.878,0,-536.696:605:286:307:9387:8619:286,307 . 0/1:-723.592,0,-699.111:747:356:384:11277:11074:356,384 . 0/1:-722.39,0,-699.37:728:350:371:11240:10977:350,371 . 0/1:-680.603,0,-673.644:704:348:350:10597:10695:348,350 0/1:-768.406,0,-607.1:726:325:396:11775:10072:325,396 0/1:-932.083,0,-852.759:942:446:481:14539:13605:446,481 chr1 228399766 . T C 6012.75 . AB=0.403614;ABP=29.8005;AC=140;AF=0.5;AN=202;AO=134;CIGAR=1X;DP=45658;DPB=332;DPRA=0;EPP=5.34382;EPPR=7.34125;GTI=0;LEN=1;MEANALT=3;MQM=30.6269;MQMR=32.2707;NS=1;NUMALT=1;ODDS=417.531;PAIRED=0.731343;PAIREDR=0.723757;PAO=0;PQA=0;PQR=0;PRO=0;QA=4157;QR=5257;RO=181;RPL=106;RPP=101.602;RPPR=41.9888;RPR=28;RUN=1;SAF=63;SAP=4.04742;SAR=71;SF=0,1;SRF=89;SRP=3.11827;SRR=92;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T282C:p.A94A,OBSCN:NM_001271223:exon2:c.T282C:p.A94A,OBSCN:NM_052843:exon2:c.T282C:p.A94A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6409;esp6500siv2_ea=0.6178;esp6500siv2_all=0.6409;esp6500siv2_ea=0.6178;1000g2015aug_all=0.726238;avsnp147=rs55971985;Kaviar_AF=0.445602;Kaviar_AC=68891;Kaviar_AN=154602;ExAC_ALL=0.6937;ExAC_AFR=0.6981;ExAC_AMR=0.6408;ExAC_EAS=0.8338;ExAC_FIN=0.7538;ExAC_NFE=0.6233;ExAC_OTH=0.6301;ExAC_SAS=0.7563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1930;dpsi_zscore=0.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6560;gnomAD_exome_AFR=0.6872;gnomAD_exome_AMR=0.6053;gnomAD_exome_ASJ=0.6068;gnomAD_exome_EAS=0.8068;gnomAD_exome_FIN=0.6433;gnomAD_exome_NFE=0.6077;gnomAD_exome_OTH=0.6439;gnomAD_exome_SAS=0.7632;gnomAD_genome_ALL=0.6463;gnomAD_genome_AFR=0.6803;gnomAD_genome_AMR=0.5941;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8193;gnomAD_genome_FIN=0.6427;gnomAD_genome_NFE=0.6101;gnomAD_genome_OTH=0.6674;Whole_Blood=Whole_Blood::0.347527::-0.32548;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-199.745,0,-291.687:332:181:134:4157:5257 . 0/1:-363.959,0,-260.726:426:183:229:6966:5106 1/1:-676.833,-91.2121,0:313:0:303:9198:0 1/1:-965.926,-137.059,0:467:1:464:14224:32 . . . 0/1:-310.46,0,-393.747:485:252:209:6443:7446 0/1:-419.667,0,-392.738:556:262:277:8209:7450 . 0/1:-318.41,0,-356.406:465:240:206:6469:6743 0/1:-344.485,0,-254.284:420:179:227:6690:5136 0/1:-286.773,0,-348.922:448:232:201:6082:6474 1/1:-769.866,-99.3399,0:336:0:330:10504:0 1/1:-1133.53,-155.549,0:530:2:524:16199:50 . 1/1:-2568.94,-352.205,0:1183:0:1170:35536:0 1/1:-597.595,-85.4986,0:301:2:297:9049:50 1/1:-995.123,-137.292,0:464:2:457:13545:28 0/1:-298.676,0,-255.62:391:177:203:6040:5141 1/1:-958.016,-129.695,0:456:3:447:13829:77 0/1:-295.089,0,-249.415:331:156:168:5230:4521 0/1:-566.584,0,-486.128:704:321:358:10734:9242 1/1:-810.845,-117.402,0:392:0:390:12027:0 0/1:-295.282,0,-306.6:388:187:191:5825:5461 1/1:-1009.87,-145.026,0:489:1:485:14546:14 1/1:-781.699,-102.867,0:345:1:343:10629:36 0/1:-370.471,0,-291.753:424:195:219:6728:5473 1/1:-1121.8,-150.708,0:515:2:511:15326:41 1/1:-673.052,-88.1505,0:311:3:306:9592:84 0/1:-390.357,0,-468.788:563:284:264:7876:8234 0/1:-452.482,0,-380.247:550:252:276:8291:7172 0/1:-284.95,0,-296.939:388:200:178:5586:5848 1/1:-917.289,-123.121,0:415:0:409:12628:0 0/1:-512.671,0,-506.719:638:307:313:9546:9112 0/1:-375.483,0,-325.714:460:220:230:7185:6349 . . 0/1:-236.079,0,-158.874:283:121:152:4688:3310 0/1:-432.169,0,-411.409:569:271:281:8563:7704 1/1:-970.511,-137.711,0:478:3:470:14363:71 1/1:-868.43,-119.518,0:410:2:404:12642:50 0/1:-229.446,0,-343.869:363:198:159:4800:5746 0/1:-385.963,0,-541.65:614:325:271:8060:9505 1/1:-653.303,-82.7417,0:301:4:296:9363:85 0/1:-348.813,0,-404.494:495:251:231:6800:7278 0/1:-330.432,0,-185.215:338:129:195:5913:3684 1/1:-564.497,-73.3448,0:260:3:257:8256:60 1/1:-1261.29,-178.4,0:605:3:597:18120:49 1/1:-1368.85,-190.853,0:643:0:634:19041:0 0/1:-370.717,0,-404.364:508:252:240:7351:7229 0/1:-356.694,0,-485.583:552:305:233:7008:8658 1/1:-1452.65,-201.679,0:682:1:673:20626:14 0/1:-245.769,0,-291.325:378:191:171:5174:5474 1/1:-914.211,-128.856,0:442:4:434:13016:91 1/1:-1296.38,-175.074,0:597:2:588:18103:28 0/1:-242.186,0,-208.109:285:138:140:4239:3938 0/1:-162.867,0,-170.398:236:120:102:3054:3242 . 0/1:-257.795,0,-282.946:382:186:185:5623:5262 1/1:-1404.88,-180.961,0:629:4:619:19211:74 0/1:-366.791,0,-317.095:415:192:204:6234:5689 0/1:-206.285,0,-244.477:312:165:139:4196:4706 0/1:-530.537,0,-392.82:622:272:335:9842:7710 1/1:-1193.9,-154.033,0:548:4:537:16642:100 0/1:-203.021,0,-207.732:278:137:131:3972:3805 . . 0/1:-329.305,0,-296.055:424:193:217:6516:5648 . 0/1:-522.693,0,-558.617:687:344:322:9691:9935 0/1:-449.812,0,-338.99:511:220:271:8382:6406 0/1:-199.698,0,-248.503:321:159:152:4433:4528 1/1:-907.824,-120.111,0:406:0:399:12415:0 1/1:-1269.54,-173.857,0:588:2:580:17783:50 0/1:-397.197,0,-347.432:492:233:245:7489:6782 1/1:-1249.75,-174.346,0:610:4:600:18393:91 0/1:-329.667,0,-265.68:416:185:211:6114:5256 0/1:-115.815,0,-122.282:153:78:65:2088:2335 0/1:-358.728,0,-479.589:564:300:242:7320:8621 0/1:-471.546,0,-463.85:631:303:307:9298:8890 0/1:-481.545,0,-483.544:620:295:302:9237:8440 1/1:-859.091,-118.904,0:417:3:409:12576:71 0/1:-266.072,0,-301.648:374:197:165:5039:5661 0/1:-373.992,0,-431.448:520:266:239:7303:7845 0/1:-236.829,0,-224.086:320:157:157:4790:4365 . . 0/1:-339.507,0,-276.445:395:183:203:6135:5217 0/1:-533.597,0,-439.702:652:309:318:9822:8744 0/1:-383.944,0,-421.95:518:253:247:7693:7641 0/1:-364.32,0,-547.043:601:328:249:7689:9328 1/1:-936.523,-116.219,0:456:10:444:13257:254 0/1:-468.723,0,-442.332:598:293:288:8784:8343 . 0/1:-359.401,0,-377.295:375:188:175:5448:5625:188,175 1/1:-940.143,-100.215,0:358:2:351:11207:68:2,351 1/1:-1146.46,-124.927,0:416:0:415:13379:0:0,415 0/1:-189.72,0,-190.56:181:92:88:2832:2849:92,88 1/1:-1065.31,-117.101,0:392:0:389:12504:0:0,389 1/1:-1100.47,-113.394,0:417:4:406:13103:113:4,406 1/1:-984.21,-112.182,0:379:1:374:11565:36:1,374 0/1:-466.22,0,-422.278:441:213:218:7039:6463:213,218 0/1:-388.715,0,-332.537:352:169:181:5921:5059:169,181 0/1:-497.092,0,-378.269:436:200:231:7239:6054:200,231 1/1:-1078.58,-115.71,0:404:2:400:12659:59:2,400 0/1:-384.179,0,-334.3:364:168:193:5905:5153:168,193 1/1:-973.983,-107.468,0:363:0:357:11355:0:0,357 0/1:-456.699,0,-341.379:378:166:206:6742:5254:166,206 1/1:-1092.38,-120.402,0:409:1:403:12831:14:1,403 0/1:-354.293,0,-408.378:377:195:176:5429:6057:195,176 1/1:-1133.74,-124.626,0:415:0:414:13220:0:0,414 0/1:-365.556,0,-440.323:390:209:178:5697:6410:209,178 0/1:-452.014,0,-439.07:424:210:206:6677:6557:210,206 0/1:-406.346,0,-404.829:402:203:191:6135:6072:203,191 chr1 228399799 . C T 2252.37 . AB=0.407619;ABP=41.9272;AC=8;AF=0.5;AN=16;AO=214;CIGAR=1X;DP=3546;DPB=525;DPRA=0;EPP=22.655;EPPR=27.4225;GTI=0;LEN=1;MEANALT=3;MQM=30.7523;MQMR=32.1176;NS=1;NUMALT=1;ODDS=474.871;PAIRED=0.836449;PAIREDR=0.816609;PAO=0;PQA=0;PQR=0;PRO=0;QA=5283;QR=8918;RO=289;RPL=172;RPP=174.496;RPPR=135.921;RPR=42;RUN=1;SAF=111;SAP=3.65971;SAR=103;SF=0;SRF=129;SRP=10.231;SRR=160;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.C315T:p.C105C,OBSCN:NM_001271223:exon2:c.C315T:p.C105C,OBSCN:NM_052843:exon2:c.C315T:p.C105C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0314;esp6500siv2_ea=0.037;esp6500siv2_all=0.0314;esp6500siv2_ea=0.037;1000g2015aug_all=0.0507188;avsnp147=rs11582369;Kaviar_AF=0.0192236;Kaviar_AC=2972;Kaviar_AN=154602;ExAC_ALL=0.0412;ExAC_AFR=0.0359;ExAC_AMR=0.0857;ExAC_EAS=0.1364;ExAC_FIN=0;ExAC_NFE=0.0482;ExAC_OTH=0.0565;ExAC_SAS=0.0348;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0344;dpsi_zscore=-0.189;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0481;gnomAD_exome_AFR=0.0173;gnomAD_exome_AMR=0.0538;gnomAD_exome_ASJ=0.0347;gnomAD_exome_EAS=0.1213;gnomAD_exome_FIN=0.0612;gnomAD_exome_NFE=0.0415;gnomAD_exome_OTH=0.0422;gnomAD_exome_SAS=0.0339;gnomAD_genome_ALL=0.0447;gnomAD_genome_AFR=0.0179;gnomAD_genome_AMR=0.0636;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1161;gnomAD_genome_FIN=0.0598;gnomAD_genome_NFE=0.0477;gnomAD_genome_OTH=0.0579;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-236.24,0,-510.176:525:289:214:5283:8918 . . . 0/1:-410.414,0,-601.941:735:369:328:8194:11243 . . . . 0/1:-249.53,0,-287.71:403:198:193:5065:6174 . . . . . . . . . . . . . . . . . . . . . 0/1:-242.021,0,-406.404:479:251:212:5282:7651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-153.643,0,-190.616:251:120:124:3192:3771 . . . . . . . . . . . . . . 0/1:-156.399,0,-305.193:357:197:144:3466:5968 . 0/1:-331.755,0,-322.431:504:222:257:6334:6774 . . . . . . . 0/1:-222.506,0,-188.9:292:126:153:3915:3688 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228399980 . G A 3613.58 . AB=0.483461;ABP=3.94409;AC=1;AF=0.5;AN=2;AO=190;CIGAR=1X;DP=393;DPB=393;DPRA=0;EPP=5.25035;EPPR=15.1371;GTI=0;LEN=1;MEANALT=3;MQM=39.0053;MQMR=39.2923;NS=1;NUMALT=1;ODDS=832.057;PAIRED=0.931579;PAIREDR=0.861538;PAO=0;PQA=0;PQR=0;PRO=0;QA=5904;QR=6517;RO=195;RPL=141;RPP=99.7437;RPPR=243.643;RPR=49;RUN=1;SAF=65;SAP=44.154;SAR=125;SF=1;SRF=73;SRP=29.7472;SRR=122;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.G496A:p.A166T,OBSCN:NM_001271223:exon2:c.G496A:p.A166T,OBSCN:NM_052843:exon2:c.G496A:p.A166T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs555146765;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.764;SIFT_pred=T;Polyphen2_HDIV_score=0.166;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.096;Polyphen2_HVAR_pred=B;LRT_score=0.702;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-1.1;MutationAssessor_pred=N;FATHMM_score=-0.17;FATHMM_pred=T;PROVEAN_score=0.34;PROVEAN_pred=N;VEST3_score=0.061;CADD_raw=0.913;CADD_phred=10.15;DANN_score=0.936;fathmm-MKL_coding_score=0.090;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.000;MetaSVM_pred=T;MetaLR_score=0.068;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=2.15;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=-0.041;phastCons7way_vertebrate=0.033;phastCons20way_mammalian=0.060;SiPhy_29way_logOdds=6.335;GDI_full_10282015=.;dpsi_max_tissue=0.4178;dpsi_zscore=1.043;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0004;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0005;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-382.897,0,-432.049:393:195:190:5904:6517:195,190 . . . . . . . . . . . . . . . . . chr1 228400152 . T G 52.17 . AB=0.384615;ABP=7.52028;AC=1;AF=0.5;AN=2;AO=15;CIGAR=1X;DP=39;DPB=39;DPRA=0;EPP=27.4756;EPPR=26.1727;GTI=0;LEN=1;MEANALT=1;MQM=24.4667;MQMR=30.5;NS=1;NUMALT=1;ODDS=12.0136;PAIRED=1;PAIREDR=0.791667;PAO=0;PQA=0;PQR=0;PRO=0;QA=480;QR=792;RO=24;RPL=2;RPP=20.5268;RPPR=20.744;RPR=13;RUN=1;SAF=14;SAP=27.4756;SAR=1;SF=0;SRF=21;SRP=32.3252;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T668G:p.L223R,OBSCN:NM_001271223:exon2:c.T668G:p.L223R,OBSCN:NM_052843:exon2:c.T668G:p.L223R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.657;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.976;Polyphen2_HVAR_pred=D;LRT_score=0.022;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.16;FATHMM_pred=T;PROVEAN_score=-2.62;PROVEAN_pred=D;VEST3_score=0.389;CADD_raw=3.598;CADD_phred=23.2;DANN_score=0.957;fathmm-MKL_coding_score=0.857;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.710;MetaSVM_pred=T;MetaLR_score=0.282;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=4.49;phyloP7way_vertebrate=0.966;phyloP20way_mammalian=0.880;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.017;GDI_full_10282015=.;dpsi_max_tissue=0.1338;dpsi_zscore=0.577;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.157e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.042e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.606e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=7.028e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-17.7302,0,-41.8909:39:24:15:480:792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228401183 . G C 1057.74 . AB=0.453659;ABP=6.83421;AC=1;AF=0.5;AN=2;AO=93;CIGAR=1X;DP=205;DPB=205;DPRA=0;EPP=3.03365;EPPR=3.1896;GTI=0;LEN=1;MEANALT=3;MQM=28.6882;MQMR=30.7523;NS=1;NUMALT=1;ODDS=243.553;PAIRED=0.892473;PAIREDR=0.87156;PAO=0;PQA=0;PQR=0;PRO=0;QA=2628;QR=3471;RO=109;RPL=27;RPP=38.5244;RPPR=47.0175;RPR=66;RUN=1;SAF=72;SAP=63.7415;SAR=21;SF=0;SRF=87;SRP=87.1798;SRR=22;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon3:c.G1030C:p.V344L,OBSCN:NM_001271223:exon3:c.G1030C:p.V344L,OBSCN:NM_052843:exon3:c.G1030C:p.V344L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000998403;avsnp147=rs569727649;Kaviar_AF=0.0004528;Kaviar_AC=70;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0076;ExAC_SAS=0.0045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.152;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.67;MutationAssessor_pred=M;FATHMM_score=-0.53;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_pred=N;VEST3_score=0.366;CADD_raw=4.903;CADD_phred=24.9;DANN_score=0.996;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_pred=D;MetaSVM_score=0.060;MetaSVM_pred=D;MetaLR_score=0.572;MetaLR_pred=D;integrated_fitCons_score=0.564;integrated_confidence_value=0;GERP++_RS=5.47;phyloP7way_vertebrate=0.897;phyloP20way_mammalian=1.029;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=19.308;GDI_full_10282015=.;dpsi_max_tissue=0.4162;dpsi_zscore=1.041;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.569e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0048;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-122.518,0,-191.352:205:109:93:2628:3471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228401329 . C T 2625.46 . AB=0.445619;ABP=20.0147;AC=2;AF=0.5;AN=4;AO=295;CIGAR=1X;DP=1101;DPB=662;DPRA=0;EPP=12.0274;EPPR=5.28248;GTI=0;LEN=1;MEANALT=3;MQM=30.7729;MQMR=31.6261;NS=1;NUMALT=1;ODDS=782.75;PAIRED=0.630508;PAIREDR=0.707246;PAO=0;PQA=0;PQR=0;PRO=0;QA=7910;QR=10927;RO=345;RPL=239;RPP=249.52;RPPR=111.024;RPR=56;RUN=1;SAF=108;SAP=48.9498;SAR=187;SF=0;SRF=133;SRP=42.2919;SRR=212;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon3:c.C1176T:p.R392R,OBSCN:NM_001271223:exon3:c.C1176T:p.R392R,OBSCN:NM_052843:exon3:c.C1176T:p.R392R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0050;esp6500siv2_ea=0.0074;esp6500siv2_all=0.0050;esp6500siv2_ea=0.0074;1000g2015aug_all=0.00339457;avsnp147=rs185717159;Kaviar_AF=0.0032147;Kaviar_AC=497;Kaviar_AN=154602;ExAC_ALL=0.0075;ExAC_AFR=0.0016;ExAC_AMR=0.0026;ExAC_EAS=0;ExAC_FIN=0.0051;ExAC_NFE=0.0130;ExAC_OTH=0.0035;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5331;dpsi_zscore=1.165;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0074;gnomAD_exome_OTH=0.0041;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0041;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0067;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-380.265,0,-596.872:662:345:295:7910:10927 . . . . . . . . . . . . . . . . 0/1:-210.75,0,-391.712:439:238:184:4866:7547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228401978 . G A 13126.90 . AB=0.453722;ABP=31.751;AC=1;AF=0.5;AN=2;AO=701;CIGAR=1X;DP=1545;DPB=1545;DPRA=0;EPP=15.305;EPPR=39.5267;GTI=0;LEN=1;MEANALT=3;MQM=39.3638;MQMR=39.5169;NS=1;NUMALT=1;ODDS=3022.58;PAIRED=0.945792;PAIREDR=0.940821;PAO=0;PQA=0;PQR=0;PRO=0;QA=20901;QR=26729;RO=828;RPL=305;RPP=28.6622;RPPR=54.4123;RPR=396;RUN=1;SAF=378;SAP=12.3808;SAR=323;SF=1;SRF=459;SRP=24.253;SRR=369;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.G1362A:p.L454L,OBSCN:NM_001271223:exon4:c.G1362A:p.L454L,OBSCN:NM_052843:exon4:c.G1362A:p.L454L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs768137772;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.704e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.11e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0664;dpsi_zscore=-0.334;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.981e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.462e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.708e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1327.97,0,-1814.84:1545:828:701:20901:26729:828,701 . . . . . . . . . . . . . . . . . . chr1 228402047 . A G 16869.78 . AB=0.472727;ABP=10.1169;AC=140;AF=0.5;AN=202;AO=520;CIGAR=1X;DP=133118;DPB=1100;DPRA=0;EPP=23.4723;EPPR=3.21297;GTI=0;LEN=1;MEANALT=3;MQM=29.5115;MQMR=32.4038;NS=1;NUMALT=1;ODDS=1610.81;PAIRED=0.898077;PAIREDR=0.897143;PAO=0;PQA=0;PQR=0;PRO=0;QA=14152;QR=15132;RO=525;RPL=278;RPP=8.42228;RPPR=4.20564;RPR=242;RUN=1;SAF=257;SAP=3.16063;SAR=263;SF=0,1;SRF=179;SRP=118.363;SRR=346;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6305;esp6500siv2_ea=0.6095;esp6500siv2_all=0.6305;esp6500siv2_ea=0.6095;1000g2015aug_all=0.719848;avsnp147=rs1620111;Kaviar_AF=0.0035899;Kaviar_AC=555;Kaviar_AN=154602;ExAC_ALL=0.6544;ExAC_AFR=0.6583;ExAC_AMR=0.6030;ExAC_EAS=0.8132;ExAC_FIN=0.6609;ExAC_NFE=0.6132;ExAC_OTH=0.6633;ExAC_SAS=0.7672;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5775;dpsi_zscore=1.208;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6515;gnomAD_exome_AFR=0.6615;gnomAD_exome_AMR=0.6027;gnomAD_exome_ASJ=0.6049;gnomAD_exome_EAS=0.8094;gnomAD_exome_FIN=0.6582;gnomAD_exome_NFE=0.6117;gnomAD_exome_OTH=0.6406;gnomAD_exome_SAS=0.7665;gnomAD_genome_ALL=0.6403;gnomAD_genome_AFR=0.6612;gnomAD_genome_AMR=0.5919;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8168;gnomAD_genome_FIN=0.6403;gnomAD_genome_NFE=0.6098;gnomAD_genome_OTH=0.6663;Whole_Blood=Whole_Blood::0.352304::-0.320807;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-709.453,0,-804.329:1100:525:520:14152:15132 . 0/1:-857.104,0,-735.529:1077:466:567:15925:13559 1/1:-1502.08,-225.508,0:775:3:765:21401:64 1/1:-2102.31,-296.972,0:1108:21:1076:30211:533 . . . 0/1:-903.764,0,-838.435:1176:531:606:17010:15814 0/1:-881.539,0,-1025.79:1399:678:670:18350:19641 . 0/1:-876.329,0,-887.47:1219:579:600:17048:17093 0/1:-927.789,0,-935.939:1267:602:627:17940:17468 0/1:-630.31,0,-738.899:1048:510:492:13652:14424 1/1:-1992.7,-274.622,0:1012:15:989:28041:350 1/1:-3482.71,-501.277,0:1800:23:1749:49190:507 . 1/1:-5179.35,-752.491,0:2692:23:2627:72796:570 1/1:-2413.66,-346.039,0:1173:3:1161:33155:67 1/1:-1973.39,-289.955,0:1018:8:998:27805:169 0/1:-630.267,0,-691.745:920:426:453:12411:12607 1/1:-2631.81,-386.596,0:1352:7:1320:36845:178 0/1:-549.122,0,-570.316:842:396:410:11288:11214 0/1:-1101.42,0,-1178.34:1638:765:819:22152:22484 1/1:-2777.55,-409.449,0:1418:7:1390:39082:164 0/1:-650.754,0,-852.058:1136:560:529:14390:16188 1/1:-2349.82,-341.559,0:1242:15:1214:33355:379 1/1:-2135.3,-307.22,0:1089:8:1066:30099:212 0/1:-686.542,0,-763.662:1040:485:514:13847:14251 1/1:-2055.02,-294.972,0:1079:13:1047:28992:328 1/1:-2043.73,-283.384,0:1016:13:994:28190:278 0/1:-857.128,0,-1189.93:1443:713:681:18341:21208 0/1:-1035.29,0,-1029.55:1458:668:737:20320:19474 0/1:-788.323,0,-888.19:1226:588:606:16328:16904 1/1:-2307.76,-316.247,0:1172:15:1140:31993:448 0/1:-974.738,0,-1112.95:1419:695:681:19238:20439 0/1:-1171.66,0,-1059.17:1602:708:831:22731:20245 . . 0/1:-536.966,0,-668.16:873:424:411:11121:12137 0/1:-1085.65,0,-1084.36:1547:708:793:21785:20649 1/1:-2404.26,-348.335,0:1244:15:1213:34156:334 1/1:-2528.99,-359.04,0:1252:9:1226:35050:232 0/1:-762.983,0,-966.602:1232:608:580:15670:18055 0/1:-1050.35,0,-1197.02:1590:782:761:21144:23007 1/1:-2309.58,-336.299,0:1241:18:1203:33412:469 0/1:-783.839,0,-908.155:1191:578:580:15799:16952 0/1:-510.793,0,-642.102:804:398:380:10168:11638 1/1:-1683.28,-228.562,0:854:18:827:23671:406 1/1:-2933.3,-411.385,0:1527:22:1481:41405:598 1/1:-2784.42,-400.581,0:1388:5:1365:38668:154 0/1:-820.21,0,-964.678:1324:632:638:17452:18287 0/1:-1189.68,0,-1145.71:1601:736:798:22668:21861 1/1:-3035.72,-446.335,0:1530:5:1498:41992:114 0/1:-668.299,0,-660.457:1001:451:506:13621:12954 1/1:-2164.87,-320.807,0:1093:5:1074:30584:140 1/1:-2383.82,-352.929,0:1233:5:1211:33457:149 0/1:-499.343,0,-601.705:784:388:381:10254:11506 0/1:-618.163,0,-616.537:872:410:436:12336:11757 . 0/1:-543.982,0,-602.106:870:400:436:11885:11618 1/1:-2967.88,-435.51,0:1514:8:1487:42094:196 0/1:-691.517,0,-813.086:1085:522:523:13958:15398 0/1:-554.096,0,-706.277:936:480:427:11807:13929 0/1:-1085.66,0,-1097.11:1546:717:779:21810:21330 1/1:-2610.99,-386.031,0:1371:10:1337:37004:264 0/1:-479.084,0,-559.202:793:381:383:10254:10948 . . 0/1:-907.829,0,-970.191:1308:624:631:17881:18055 . 0/1:-1095.57,0,-1059.72:1493:701:759:21404:20513 0/1:-1060.72,0,-1033.75:1465:661:764:20895:19235 0/1:-394.842,0,-490.714:779:365:370:9596:10539 1/1:-1997.22,-281.542,0:978:10:959:27594:220 1/1:-2968.7,-419.294,0:1599:30:1530:42128:747 0/1:-955.557,0,-1031.91:1421:680:692:19496:19522 1/1:-2969.36,-433.522,0:1545:15:1514:42751:346 0/1:-583.982,0,-634.54:883:419:430:11753:12090 0/1:-526.74,0,-422.68:686:295:363:10142:8612 0/1:-989.848,0,-1108.14:1471:705:710:19493:20627 0/1:-984.146,0,-986.533:1449:669:723:20222:19212 0/1:-869.524,0,-1056.41:1422:692:671:18482:20113 1/1:-2347.85,-336.838,0:1171:8:1148:32643:236 0/1:-653.805,0,-795.883:1048:508:501:13780:14985 0/1:-800.555,0,-796.729:1139:526:574:15987:15080 0/1:-646.793,0,-726.016:971:464:468:13249:13432 . . 0/1:-796.084,0,-832.476:1172:546:576:15662:15838 0/1:-1296.17,0,-1183.99:1795:803:926:26049:23196 0/1:-697.187,0,-906.3:1136:570:527:14690:17027 0/1:-1057.05,0,-1195.79:1557:734:754:20835:21769 1/1:-2493.94,-348.564,0:1326:23:1288:35997:633 0/1:-1008.65,0,-989.785:1439:654:734:20179:19000 . 0/1:-1829.22,0,-1716.2:1704:824:865:27396:26224:824,865 1/1:-4446.57,-468.881,0:1691:15:1671:52895:473:15,1671 1/1:-4585.25,-490.254,0:1726:10:1705:54447:314:10,1705 0/1:-1127.79,0,-1029.89:1031:497:530:16941:15715:497,530 1/1:-4039.6,-428.571,0:1547:14:1527:48126:447:14,1527 1/1:-4377.73,-482.151,0:1698:13:1668:52198:352:13,1668 1/1:-4151.43,-410.86,0:1582:23:1552:49446:739:23,1552 0/1:-1859.38,0,-1701.52:1725:821:884:28044:26050:821,884 0/1:-1585.12,0,-1802.46:1610:839:751:24084:26685:839,751 0/1:-1888.79,0,-1693.49:1737:827:887:28072:26096:827,887 1/1:-4605.62,-481.662,0:1741:15:1715:54748:444:15,1715 0/1:-1364.85,0,-1137.62:1225:553:655:20450:17497:553,655 1/1:-4103.5,-422.497,0:1578:18:1548:48713:562:18,1548 0/1:-1707.76,0,-1702.11:1630:795:813:25824:25594:795,813 1/1:-4940.34,-513.271,0:1914:26:1869:59174:746:26,1869 0/1:-1679.38,0,-1557.63:1583:760:803:25305:23665:760,803 1/1:-4488.85,-475.052,0:1719:17:1684:53475:508:17,1684 0/1:-1528.58,0,-1330.42:1422:675:732:23088:20680:675,732 0/1:-1634.23,0,-1719.04:1611:809:778:24844:25608:809,778 0/1:-2029.28,0,-2315.85:2139:1106:1004:31587:34602:1106,1004 chr1 228402063 . T C 10391.10 . AB=0.449453;ABP=37.4756;AC=1;AF=0.5;AN=2;AO=698;CIGAR=1X;DP=1553;DPB=1553;DPRA=0;EPP=7.50257;EPPR=29.3734;GTI=0;LEN=1;MEANALT=3;MQM=31.2966;MQMR=33.1329;NS=1;NUMALT=1;ODDS=2392.63;PAIRED=0.904011;PAIREDR=0.876129;PAO=0;PQA=0;PQR=0;PRO=0;QA=20070;QR=21883;RO=775;RPL=378;RPP=13.4757;RPPR=4.76149;RPR=320;RUN=1;SAF=294;SAP=40.6533;SAR=404;SF=0;SRF=325;SRP=46.79;SRR=450;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.T1447C:p.C483R,OBSCN:NM_001271223:exon4:c.T1447C:p.C483R,OBSCN:NM_052843:exon4:c.T1447C:p.C483R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769496430;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.341e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.554e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.533;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.702;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=-0.395;MutationAssessor_pred=N;FATHMM_score=-0.91;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_pred=N;VEST3_score=0.173;CADD_raw=-1.102;CADD_phred=0.010;DANN_score=0.541;fathmm-MKL_coding_score=0.124;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.979;MetaSVM_pred=T;MetaLR_score=0.121;MetaLR_pred=T;integrated_fitCons_score=0.767;integrated_confidence_value=0;GERP++_RS=-0.235;phyloP7way_vertebrate=-0.512;phyloP20way_mammalian=0.124;phastCons7way_vertebrate=0.865;phastCons20way_mammalian=0.623;SiPhy_29way_logOdds=2.034;GDI_full_10282015=.;dpsi_max_tissue=0.1110;dpsi_zscore=0.516;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.745e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.312e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-1053.49,0,-1222.68:1553:775:698:20070:21883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228402121 . AGTT GGTT 12020.67 . AB=0.485557;ABP=4.32752;AC=140;AF=0.5;AN=202;AO=353;CIGAR=1X;DP=94148;DPB=727;DPRA=0;EPP=10.5459;EPPR=29.5803;GTI=0;LEN=1;MEANALT=3;MQM=30.8725;MQMR=32.6067;NS=1;NUMALT=1;ODDS=1209.01;PAIRED=0.903683;PAIREDR=0.86236;PAO=0;PQA=0;PQR=0;PRO=0;QA=10333;QR=10797;RO=356;RPL=236;RPP=90.1214;RPPR=205.055;RPR=117;RUN=1;SAF=115;SAP=96.076;SAR=238;SF=0,1;SRF=98;SRP=159.161;SRR=258;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6257;esp6500siv2_ea=0.6065;esp6500siv2_all=0.6257;esp6500siv2_ea=0.6065;1000g2015aug_all=0.719649;avsnp147=rs1771487;Kaviar_AF=0.638129;Kaviar_AC=98656;Kaviar_AN=154602;ExAC_ALL=0.6539;ExAC_AFR=0.6577;ExAC_AMR=0.6032;ExAC_EAS=0.8131;ExAC_FIN=0.6616;ExAC_NFE=0.6122;ExAC_OTH=0.6633;ExAC_SAS=0.7671;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.989;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.939;MutationTaster_pred=P;MutationAssessor_score=0.31;MutationAssessor_pred=N;FATHMM_score=-1.0;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_pred=N;VEST3_score=0.247;CADD_raw=3.331;CADD_phred=22.9;DANN_score=0.997;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.767;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.348;SiPhy_29way_logOdds=15.165;GDI_full_10282015=.;dpsi_max_tissue=0.1598;dpsi_zscore=0.639;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6517;gnomAD_exome_AFR=0.6616;gnomAD_exome_AMR=0.6028;gnomAD_exome_ASJ=0.6046;gnomAD_exome_EAS=0.8095;gnomAD_exome_FIN=0.6583;gnomAD_exome_NFE=0.6117;gnomAD_exome_OTH=0.6398;gnomAD_exome_SAS=0.7663;gnomAD_genome_ALL=0.6403;gnomAD_genome_AFR=0.6600;gnomAD_genome_AMR=0.5923;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8182;gnomAD_genome_FIN=0.6406;gnomAD_genome_NFE=0.6104;gnomAD_genome_OTH=0.6643;Whole_Blood=Whole_Blood::0.350949::-0.324149;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-588.817:727:356:353:10333:10797 . 0/1:.,.,-510.256:788:322:439:12296:9479 1/1:.,.,0:562:5:549:15263:99 1/1:.,.,0:813:11:792:22068:311 . . . 0/1:.,.,-604.169:851:375:449:12185:11079 0/1:.,.,-771.412:975:463:477:13325:13979 . 0/1:.,.,-577.544:791:354:411:11513:10417 0/1:.,.,-583.621:868:374:464:12819:11071 0/1:.,.,-504.287:734:336:377:10445:9710 1/1:.,.,0:717:8:699:19519:218 1/1:.,.,0:1300:6:1274:35837:172 . 1/1:.,.,0:1947:13:1906:53379:350 1/1:.,.,0:882:1:868:24240:14 1/1:.,.,0:709:3:695:18947:95 0/1:.,.,-498.017:611:289:295:8102:8481 1/1:.,.,0:932:2:921:25764:68 0/1:.,.,-442.316:586:274:293:7985:7967 0/1:.,.,-801.374:1087:491:555:15687:14229 1/1:.,.,0:1088:2:1072:30035:28 0/1:.,.,-634.24:782:387:366:10126:11565 1/1:.,.,0:889:10:866:24028:298 1/1:.,.,0:792:7:772:21735:217 0/1:.,.,-569.523:766:338:405:10771:10406 1/1:.,.,0:787:5:762:21543:146 1/1:.,.,0:758:10:731:20729:237 0/1:.,.,-866.998:1029:502:496:13686:15074 0/1:.,.,-763.067:1005:463:503:14046:13801 0/1:.,.,-669.973:884:417:430:11955:12259 1/1:.,.,0:847:10:820:23089:263 0/1:.,.,-715.159:944:424:491:13493:12797 0/1:.,.,-873.856:1142:517:585:15513:15523 . . 0/1:.,.,-459.369:629:279:323:8807:8273 0/1:.,.,-728.564:1035:441:565:15759:13396 1/1:.,.,0:930:4:908:24727:100 1/1:.,.,0:946:3:921:25474:100 0/1:.,.,-649.474:852:389:429:11910:11611 0/1:.,.,-898.653:1059:529:488:13515:15757 1/1:.,.,0:931:9:912:25384:263 0/1:.,.,-712.017:841:413:403:11091:12430 0/1:.,.,-443.251:545:260:261:7035:7696 1/1:.,.,0:650:8:632:17706:244 1/1:.,.,0:1124:9:1102:30872:312 1/1:.,.,0:1014:2:990:28206:50 0/1:.,.,-758.998:869:438:403:10862:13413 0/1:.,.,-822.463:1113:487:596:16707:14736 1/1:.,.,0:1114:1:1089:30784:36 0/1:.,.,-504.35:728:321:379:10529:9297 1/1:.,.,0:778:5:755:21261:92 1/1:.,.,0:924:6:899:24473:141 0/1:.,.,-419.144:535:259:258:6913:7679 0/1:.,.,-469.845:670:292:344:9380:8683 . 0/1:.,.,-406.404:613:265:323:8624:7585 1/1:.,.,0:1097:5:1079:29995:128 0/1:.,.,-656.317:827:387:412:11567:11639 0/1:.,.,-497.304:658:321:312:8486:9401 0/1:.,.,-930.163:1166:576:550:15409:16777 1/1:.,.,0:1044:5:1022:27757:158 0/1:.,.,-344.13:515:239:257:7035:6914 . . 0/1:.,.,-795.528:923:456:436:12218:13793 . 0/1:.,.,-712.905:1087:459:586:16409:13544 0/1:.,.,-779.728:1068:479:550:15474:13987 0/1:.,.,-404.23:579:273:283:6801:8145 1/1:.,.,0:698:3:681:19348:64 1/1:.,.,0:1187:18:1151:32047:547 0/1:.,.,-757.463:1061:465:552:15214:13750 1/1:.,.,0:1082:5:1062:30177:154 0/1:.,.,-459.395:630:283:324:9104:8319 0/1:.,.,-302.058:479:202:255:7225:5811 0/1:.,.,-818.104:999:497:482:13327:14382 0/1:.,.,-792.056:1047:498:523:14247:14780 0/1:.,.,-804.711:994:489:455:12531:14269 1/1:.,.,0:855:8:834:23448:218 0/1:.,.,-569.387:777:359:384:10426:10571 0/1:.,.,-569.743:835:371:434:12384:10460 0/1:.,.,-484.535:694:307:360:9941:9170 . . 0/1:.,.,-634.974:830:385:415:11729:11200 0/1:.,.,-792.915:1205:515:644:17949:14920 0/1:.,.,-737.768:880:443:402:10966:12939 0/1:.,.,-907.679:1073:522:506:13936:15627 1/1:.,.,0:998:15:960:26593:448 0/1:.,.,-699.048:1012:429:548:14424:12887 . 0/1:.,.,-1082:1169:540:602:18873:16828:540,602 1/1:.,.,0:1213:7:1195:37278:230:7,1195 1/1:.,.,0:1261:12:1237:38575:384:12,1237 0/1:.,.,-708.761:725:342:367:11316:10813:342,367 1/1:.,.,0:1045:9:1025:30648:253:9,1025 1/1:.,.,0:1165:5:1144:35352:176:5,1144 1/1:.,.,0:1129:21:1090:33534:680:21,1090 0/1:.,.,-1136.43:1180:546:614:18508:17333:546,614 0/1:.,.,-1040.79:1048:497:538:16579:15784:497,538 0/1:.,.,-1075.02:1164:531:614:18703:16665:531,614 1/1:-2743.67,-308.206,0:1166:5:1017:31571:164:5,1017 0/1:.,.,-827.372:940:408:517:15992:12841:408,517 1/1:-2536.13,-270.572,0:1096:9:934:29241:261:9,934 0/1:.,.,-979.42:1036:477:543:17026:14887:477,543 1/1:.,.,0:1407:15:1373:42029:436:15,1373 0/1:.,.,-905.254:1071:466:584:18016:14285:466,584 1/1:.,.,0:1284:6:1256:38812:197:6,1256 0/1:.,.,-884.622:916:432:467:14368:13537:432,467 0/1:.,.,-989.955:1013:478:528:16415:14913:478,528 0/1:.,.,-1359.09:1327:648:662:20585:20424:648,662 chr1 228402129 . G A 10017.30 . AB=0.561688;ABP=33.5519;AC=1;AF=0.5;AN=2;AO=519;CIGAR=1X;DP=924;DPB=924;DPRA=0;EPP=128.232;EPPR=34.2495;GTI=0;LEN=1;MEANALT=3;MQM=38.4778;MQMR=40.5448;NS=1;NUMALT=1;ODDS=1761.12;PAIRED=0.961464;PAIREDR=0.964194;PAO=0;PQA=0;PQR=0;PRO=0;QA=15547;QR=12455;RO=391;RPL=350;RPP=140.081;RPPR=126.307;RPR=169;RUN=1;SAF=191;SAP=81.5389;SAR=328;SF=1;SRF=120;SRP=129.639;SRR=271;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.G1513A:p.V505M,OBSCN:NM_001271223:exon4:c.G1513A:p.V505M,OBSCN:NM_052843:exon4:c.G1513A:p.V505M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs375898060;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.165;MutationAssessor_pred=M;FATHMM_score=-0.05;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_pred=N;VEST3_score=0.404;CADD_raw=6.651;CADD_phred=32;DANN_score=0.998;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=0.286;MetaSVM_pred=D;MetaLR_score=0.579;MetaLR_pred=D;integrated_fitCons_score=0.767;integrated_confidence_value=0;GERP++_RS=5.14;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.979;phastCons20way_mammalian=0.163;SiPhy_29way_logOdds=18.579;GDI_full_10282015=.;dpsi_max_tissue=-0.0386;dpsi_zscore=-0.211;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.939e-05;gnomAD_exome_ASJ=0.0030;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1046.92,0,-803.913:924:391:519:15547:12455:391,519 . . . . . . . . chr1 228402508 . C T 4599.85 . AB=0.454918;ABP=11.625;AC=89;AF=0.5;AN=150;AO=222;CIGAR=1X;DP=45164;DPB=488;DPRA=0;EPP=23.7078;EPPR=19.521;GTI=0;LEN=1;MEANALT=3;MQM=28.3514;MQMR=29.0474;NS=1;NUMALT=1;ODDS=591.695;PAIRED=0.864865;PAIREDR=0.831897;PAO=0;PQA=0;PQR=0;PRO=0;QA=6070;QR=7177;RO=232;RPL=49;RPP=153.409;RPPR=230.79;RPR=173;RUN=1;SAF=139;SAP=33.6848;SAR=83;SF=0,1;SRF=161;SRP=78.8246;SRR=71;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon5:c.C1537T:p.L513L,OBSCN:NM_001271223:exon5:c.C1537T:p.L513L,OBSCN:NM_052843:exon5:c.C1537T:p.L513L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3723;esp6500siv2_ea=0.3900;esp6500siv2_all=0.3723;esp6500siv2_ea=0.3900;1000g2015aug_all=0.275759;avsnp147=rs2776853;Kaviar_AF=0.339226;Kaviar_AC=52445;Kaviar_AN=154602;ExAC_ALL=0.3644;ExAC_AFR=0.3617;ExAC_AMR=0.4145;ExAC_EAS=0.1936;ExAC_FIN=0.3585;ExAC_NFE=0.4016;ExAC_OTH=0.3505;ExAC_SAS=0.2633;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0519;dpsi_zscore=0.306;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3465;gnomAD_exome_AFR=0.3422;gnomAD_exome_AMR=0.3958;gnomAD_exome_ASJ=0.3952;gnomAD_exome_EAS=0.1829;gnomAD_exome_FIN=0.3413;gnomAD_exome_NFE=0.3857;gnomAD_exome_OTH=0.36;gnomAD_exome_SAS=0.2326;gnomAD_genome_ALL=0.3577;gnomAD_genome_AFR=0.3354;gnomAD_genome_AMR=0.4045;gnomAD_genome_ASJ=0.3510;gnomAD_genome_EAS=0.1783;gnomAD_genome_FIN=0.3589;gnomAD_genome_NFE=0.3888;gnomAD_genome_OTH=0.3337;Whole_Blood=Whole_Blood::0.349593::0.31404;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-284.581,0,-358.924:488:232:222:6070:7177 1/1:-1321.61,-190.845,0:737:10:671:18390:259 0/1:-379.458,0,-447.535:618:299:287:7831:9214 . . 1/1:-1370.29,-195.662,0:794:10:711:19236:290 1/1:-853.991,-120.543,0:517:11:462:12467:282 1/1:-1208.23,-165.326,0:709:15:639:17465:405 0/1:-372.056,0,-360.848:562:252:267:7105:8012 0/1:-388.043,0,-435.891:640:304:299:8165:9541 1/1:-890.447,-140.709,0:542:5:481:12939:154 0/1:-362.2,0,-372.771:581:285:267:7343:8679 0/1:-323.872,0,-423.888:598:302:265:6987:9078 0/1:-260.908,0,-274.067:467:222:216:5821:6636 . . 1/1:-637.586,-90.8957,0:395:8:351:9444:231 . . . 0/1:-334.942,0,-227.65:437:193:215:5984:5847 . 0/1:-209.542,0,-156.214:304:132:154:4204:4139 0/1:-484.364,0,-511.855:763:361:355:9641:11268 . 0/1:-168.984,0,-304.517:433:230:179:4440:6916 . . 0/1:-254.708,0,-267.198:437:205:193:5344:6279 . . 0/1:-463.878,0,-473.09:695:338:325:9041:10311 0/1:-445.971,0,-501.863:699:333:326:8992:10298 0/1:-461.418,0,-519.978:739:358:337:9088:10767 . 0/1:-451.624,0,-483.54:732:341:355:9233:10538 0/1:-572.975,0,-665.934:968:472:443:11941:14309 1/1:-975.046,-140.077,0:557:7:505:13789:160 1/1:-876.734,-137.319,0:546:5:479:13091:154 0/1:-310.466,0,-369.267:488:239:219:6061:7463 0/1:-485.904,0,-486.099:766:345:366:9801:10589 . . 0/1:-490.538,0,-358.576:642:260:346:9264:7937 0/1:-367.357,0,-531.33:667:348:275:7729:10724 . 0/1:-372.494,0,-485.603:648:323:289:8002:9999 0/1:-222.616,0,-282.268:373:191:163:4492:5740 . . . . 0/1:-471.281,0,-609.222:805:408:353:9598:12560 . 0/1:-297.477,0,-215.176:427:175:226:6119:5308 . . 0/1:-170.524,0,-190.65:334:156:156:4036:4746 0/1:-278.984,0,-405.445:484:253:208:5593:7796 1/1:-1338.67,-193.987,0:796:11:697:19003:255 0/1:-210.407,0,-170.828:318:143:158:4361:4369 . 0/1:-302.329,0,-534.602:644:344:266:7030:10668 0/1:-195.496,0,-323.515:388:208:163:4552:6364 0/1:-429.388,0,-587.984:792:407:335:9136:12489 . 0/1:-124.862,0,-189.361:262:133:111:2968:4067 1/1:-1071.9,-154.011,0:663:14:571:15129:303 1/1:-1093.32,-164.303,0:691:10:587:15685:308 0/1:-336.14,0,-517.725:673:360:277:7576:10832 1/1:-1070.48,-167.983,0:656:9:581:15519:144 0/1:-519.104,0,-620.959:843:416:381:10529:12808 0/1:-467.629,0,-446.483:720:322:344:9284:9683 0/1:-171.578,0,-159.269:329:156:155:4141:4625 . . 0/1:-467.003,0,-583.933:799:381:355:9848:11647 . 0/1:-292.928,0,-370.062:486:232:228:6047:7293 0/1:-200.623,0,-309.948:379:197:164:4568:6159 0/1:-418.281,0,-447.278:659:311:307:8415:9314 0/1:-417.496,0,-496.76:742:369:323:9054:11056 0/1:-437.929,0,-500.819:732:355:329:8912:10651 . 0/1:-328.151,0,-386.933:584:285:272:7136:8783 0/1:-438.4,0,-391.269:641:279:322:8633:8733 0/1:-281.53,0,-280.34:473:219:225:5796:6490 1/1:-1068.85,-163.391,0:644:8:571:15298:187 1/1:-689.938,-101.686,0:386:2:342:9466:28 0/1:-280.67,0,-385.913:537:260:238:6271:7941 0/1:-378.206,0,-700.21:786:430:327:8872:13378 0/1:-372.529,0,-443.646:618:306:279:7722:9473 0/1:-434.989,0,-485.486:720:349:336:8966:10873 . 0/1:-416.004,0,-482.463:728:345:334:8932:10622 . 0/1:-660.949,0,-784.547:806:397:378:10728:12720:397,378 . . 0/1:-470.581,0,-472.122:520:244:256:7437:7687:244,256 . . . 0/1:-655.527,0,-701.065:761:367:358:10497:11610:367,358 0/1:-616.686,0,-507.207:611:266:326:9558:8306:266,326 0/1:-545.784,0,-587.029:626:310:294:8678:9583:310,294 . 0/1:-411.579,0,-491.378:523:261:236:6640:8143:261,236 . 0/1:-537.627,0,-559.244:610:295:296:8829:9131:295,296 . 0/1:-419.304,0,-589.438:590:316:254:7080:9586:316,254 . 0/1:-533.234,0,-499.625:574:267:281:8477:8400:267,281 0/1:-516.751,0,-477.904:565:261:282:8231:8177:261,282 0/1:-619.915,0,-614.743:697:333:335:9877:10357:333,335 chr1 228404198 . G A 5585.99 . AB=0.498513;ABP=3.02967;AC=11;AF=0.5;AN=22;AO=503;CIGAR=1X;DP=8489;DPB=1009;DPRA=0;EPP=3.98163;EPPR=20.4618;GTI=0;LEN=1;MEANALT=3;MQM=33.1034;MQMR=33.4752;NS=1;NUMALT=1;ODDS=1709.56;PAIRED=0.854871;PAIREDR=0.896328;PAO=0;PQA=0;PQR=0;PRO=0;QA=13476;QR=14301;RO=463;RPL=227;RPP=13.3755;RPPR=4.70339;RPR=276;RUN=1;SAF=262;SAP=4.91412;SAR=241;SF=0;SRF=275;SRP=38.5089;SRR=188;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2172A:p.A724A,OBSCN:NM_001271223:exon7:c.G2172A:p.A724A,OBSCN:NM_052843:exon7:c.G2172A:p.A724A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0342;esp6500siv2_ea=0.0367;esp6500siv2_all=0.0342;esp6500siv2_ea=0.0367;1000g2015aug_all=0.0535144;avsnp147=rs61501937;Kaviar_AF=0.0294563;Kaviar_AC=4554;Kaviar_AN=154602;ExAC_ALL=0.0683;ExAC_AFR=0.0499;ExAC_AMR=0.1392;ExAC_EAS=0.1733;ExAC_FIN=0.1338;ExAC_NFE=0.0822;ExAC_OTH=0.0741;ExAC_SAS=0.0460;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8417;dpsi_zscore=-1.372;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0521;gnomAD_exome_AFR=0.0319;gnomAD_exome_AMR=0.0597;gnomAD_exome_ASJ=0.0638;gnomAD_exome_EAS=0.1195;gnomAD_exome_FIN=0.0559;gnomAD_exome_NFE=0.0404;gnomAD_exome_OTH=0.0538;gnomAD_exome_SAS=0.0433;gnomAD_genome_ALL=0.0483;gnomAD_genome_AFR=0.0307;gnomAD_genome_AMR=0.0706;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1178;gnomAD_genome_FIN=0.0610;gnomAD_genome_NFE=0.0461;gnomAD_genome_OTH=0.0601;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-752.072,0,-797.061:1009:463:503:13476:14301 . . . 0/1:-897.824,0,-818.33:1103:471:578:15670:14621 . . . . 0/1:-536.424,0,-479.901:653:291:335:9230:8883 . . . . . . . . . . . . . . . . . . . . . 0/1:-568.29,0,-782.885:904:436:412:10694:13483 . . . . . . . . . . 0/1:-452.402,0,-538.202:672:312:333:8532:9690 . . . . . . . . 0/1:-710.561,0,-779.572:951:442:468:12865:13864 . . . . . . . . . . 0/1:-397.239,0,-453.113:582:268:288:7484:8144 . . . . 0/1:-517.793,0,-540.739:721:319:366:9441:9929 . . . . . . . . . 0/1:-399.163,0,-423.828:514:231:266:6957:7160 . 0/1:-625.868,0,-691.608:881:407:436:11533:12706 . . . . . . . 0/1:-410.733,0,-342.705:499:206:264:7052:6236 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228404305 . G A 6035.57 . AB=0.414966;ABP=67.6375;AC=2;AF=0.5;AN=4;AO=427;CIGAR=1X;DP=1661;DPB=1029;DPRA=0;EPP=54.8866;EPPR=18.6694;GTI=0;LEN=1;MEANALT=3;MQM=32.9906;MQMR=33.8134;NS=1;NUMALT=1;ODDS=1351.77;PAIRED=0.87822;PAIREDR=0.943662;PAO=0;PQA=0;PQR=0;PRO=0;QA=12041;QR=18219;RO=568;RPL=221;RPP=4.15452;RPPR=31.2853;RPR=206;RUN=1;SAF=199;SAP=7.28713;SAR=228;SF=0,1;SRF=293;SRP=4.24896;SRR=275;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2279A:p.R760Q,OBSCN:NM_001271223:exon7:c.G2279A:p.R760Q,OBSCN:NM_052843:exon7:c.G2279A:p.R760Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0084;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0084;1000g2015aug_all=0.00279553;avsnp147=rs180689095;Kaviar_AF=0.0049935;Kaviar_AC=772;Kaviar_AN=154602;ExAC_ALL=0.0122;ExAC_AFR=0.0028;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0.0225;ExAC_NFE=0.0171;ExAC_OTH=0.0192;ExAC_SAS=0.0087;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.632;SIFT_pred=T;Polyphen2_HDIV_score=0.093;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.481;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.735;MutationAssessor_pred=N;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_pred=N;VEST3_score=0.057;CADD_raw=-0.246;CADD_phred=0.876;DANN_score=0.840;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.980;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=-5.63;phyloP7way_vertebrate=-0.702;phyloP20way_mammalian=-0.785;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=14.566;GDI_full_10282015=.;dpsi_max_tissue=-0.8636;dpsi_zscore=-1.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0060;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=7.398e-05;gnomAD_exome_FIN=0.0078;gnomAD_exome_NFE=0.0089;gnomAD_exome_OTH=0.0042;gnomAD_exome_SAS=0.0062;gnomAD_genome_ALL=0.0058;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0085;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-605.02,0,-1085.91:1029:568:427:12041:18219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-691.903,0,-634.913:632:297:324:10354:9682:297,324 . . . . . . . . chr1 228404377 . G A 3296.14 . AB=0.429561;ABP=21.6709;AC=1;AF=0.5;AN=2;AO=186;CIGAR=1X;DP=433;DPB=433;DPRA=0;EPP=53.8648;EPPR=45.9081;GTI=0;LEN=1;MEANALT=3;MQM=38.7849;MQMR=40.3154;NS=1;NUMALT=1;ODDS=758.965;PAIRED=0.919355;PAIREDR=0.946058;PAO=0;PQA=0;PQR=0;PRO=0;QA=5645;QR=7643;RO=241;RPL=125;RPP=50.8294;RPPR=98.6001;RPR=61;RUN=1;SAF=79;SAP=12.1632;SAR=107;SF=1;SRF=110;SRP=6.98382;SRR=131;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2351A:p.R784H,OBSCN:NM_001271223:exon7:c.G2351A:p.R784H,OBSCN:NM_052843:exon7:c.G2351A:p.R784H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000998403;avsnp147=rs201053792;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0012;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.518;SIFT_pred=T;Polyphen2_HDIV_score=0.765;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.526;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=0.41;FATHMM_pred=T;PROVEAN_score=-1.39;PROVEAN_pred=N;VEST3_score=0.127;CADD_raw=2.131;CADD_phred=17.05;DANN_score=0.872;fathmm-MKL_coding_score=0.180;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.803;MetaSVM_pred=T;MetaLR_score=0.145;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=3.28;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.962;phastCons20way_mammalian=0.263;SiPhy_29way_logOdds=6.106;GDI_full_10282015=.;dpsi_max_tissue=1.0434;dpsi_zscore=1.546;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=6.859e-05;gnomAD_exome_NFE=5.634e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-349.204,0,-526.291:433:241:186:5645:7643:241,186 . . . . . . . . . . . chr1 228404382 . G A 3193.56 . AB=0.44;ABP=21.7718;AC=1;AF=0.5;AN=2;AO=264;CIGAR=1X;DP=600;DPB=600;DPRA=0;EPP=30.6801;EPPR=58.5245;GTI=0;LEN=1;MEANALT=3;MQM=30.7348;MQMR=31.6558;NS=1;NUMALT=1;ODDS=735.345;PAIRED=0.909091;PAIREDR=0.90942;PAO=0;PQA=0;PQR=0;PRO=0;QA=6911;QR=8342;RO=276;RPL=170;RPP=50.5195;RPPR=112.56;RPR=94;RUN=1;SAF=79;SAP=95.4295;SAR=185;SF=0;SRF=113;SRP=22.6794;SRR=163;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2356A:p.A786T,OBSCN:NM_001271223:exon7:c.G2356A:p.A786T,OBSCN:NM_052843:exon7:c.G2356A:p.A786T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=9.1e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=9.1e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs369543744;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=4.319e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.327e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.73;SIFT_pred=T;Polyphen2_HDIV_score=0.115;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1;MutationAssessor_pred=L;FATHMM_score=0.43;FATHMM_pred=T;PROVEAN_score=-0.93;PROVEAN_pred=N;VEST3_score=0.083;CADD_raw=1.029;CADD_phred=10.83;DANN_score=0.986;fathmm-MKL_coding_score=0.483;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.064;MetaSVM_pred=T;MetaLR_score=0.112;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=1.16;phyloP7way_vertebrate=-0.021;phyloP20way_mammalian=0.106;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.496;SiPhy_29way_logOdds=6.253;GDI_full_10282015=.;dpsi_max_tissue=1.0458;dpsi_zscore=1.547;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.367e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=7.452e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.862e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-343.855,0,-451.222:600:276:264:6911:8342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228404777 . C T 7728.65 . AB=0.41828;ABP=77.895;AC=1;AF=0.5;AN=2;AO=540;CIGAR=1X;DP=1291;DPB=1291;DPRA=0;EPP=4.03974;EPPR=4.40017;GTI=0;LEN=1;MEANALT=3;MQM=33.4389;MQMR=33.5675;NS=1;NUMALT=1;ODDS=1779.59;PAIRED=0.807407;PAIREDR=0.79971;PAO=0;PQA=0;PQR=0;PRO=0;QA=14951;QR=20412;RO=689;RPL=288;RPP=8.22183;RPPR=13.9811;RPR=252;RUN=1;SAF=302;SAP=19.4813;SAR=238;SF=0;SRF=384;SRP=22.6796;SRR=305;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon8:c.C2441T:p.P814L,OBSCN:NM_001271223:exon8:c.C2441T:p.P814L,OBSCN:NM_052843:exon8:c.C2441T:p.P814L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs374032777;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.359e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.055e-05;ExAC_OTH=0;ExAC_SAS=6.059e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.27;SIFT_pred=T;Polyphen2_HDIV_score=0.709;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.066;Polyphen2_HVAR_pred=B;LRT_score=0.454;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.72;MutationAssessor_pred=N;FATHMM_score=0.95;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_pred=N;VEST3_score=0.138;CADD_raw=0.550;CADD_phred=7.805;DANN_score=0.706;fathmm-MKL_coding_score=0.106;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.046;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=-0.868;phyloP7way_vertebrate=-0.631;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.475;phastCons20way_mammalian=0.009;SiPhy_29way_logOdds=3.468;GDI_full_10282015=.;dpsi_max_tissue=-0.3214;dpsi_zscore=-0.884;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.928e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.998e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-787.101,0,-1205.45:1291:689:540:14951:20412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228404997 . C T 3083.92 . AB=0.485149;ABP=3.59079;AC=7;AF=0.5;AN=14;AO=147;CIGAR=1X;DP=4428;DPB=303;DPRA=0;EPP=104.774;EPPR=87.7564;GTI=0;LEN=1;MEANALT=3;MQM=33.0068;MQMR=34.8649;NS=1;NUMALT=1;ODDS=406.678;PAIRED=0.972789;PAIREDR=0.966216;PAO=0;PQA=0;PQR=0;PRO=0;QA=4305;QR=4802;RO=148;RPL=133;RPP=212.195;RPPR=207.305;RPR=14;RUN=1;SAF=18;SAP=185.015;SAR=129;SF=0;SRF=21;SRP=167.866;SRR=127;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0290;esp6500siv2_ea=0.0401;esp6500siv2_all=0.0290;esp6500siv2_ea=0.0401;1000g2015aug_all=0.0169728;avsnp147=rs115777899;Kaviar_AF=0.0304783;Kaviar_AC=4712;Kaviar_AN=154602;ExAC_ALL=0.0320;ExAC_AFR=0.0068;ExAC_AMR=0.0120;ExAC_EAS=0.0006;ExAC_FIN=0.0244;ExAC_NFE=0.0407;ExAC_OTH=0.0268;ExAC_SAS=0.0497;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1626;dpsi_zscore=-1.561;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0297;gnomAD_exome_AFR=0.0055;gnomAD_exome_AMR=0.0113;gnomAD_exome_ASJ=0.0247;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0225;gnomAD_exome_NFE=0.0415;gnomAD_exome_OTH=0.0271;gnomAD_exome_SAS=0.0436;gnomAD_genome_ALL=0.0257;gnomAD_genome_AFR=0.0070;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0203;gnomAD_genome_NFE=0.0410;gnomAD_genome_OTH=0.0337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-238.496,0,-288.224:303:148:147:4305:4802 . . . . . . . . . . 0/1:-375.458,0,-429.419:456:227:219:6460:7336 . . 0/1:-867.487,0,-1522.6:1338:760:543:16325:24494 . . . . . . . . . . . . . . . . 0/1:-351.681,0,-531.081:500:268:217:6309:8677 . . . . . . . . . . . . . 0/1:-264.852,0,-405.736:381:207:160:4801:6550 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-501.342,0,-905.299:800:449:330:9251:14432 . . . . . . . . . . . . . . . . . 0/1:-371.589,0,-721.852:650:376:258:7478:12085 . . . . . . . . . . . . . . . . . . . . . . chr1 228407010 . C T 2747.72 . AB=0.44795;ABP=10.47;AC=90;AF=0.5;AN=152;AO=142;CIGAR=1X;DP=32550;DPB=317;DPRA=0;EPP=9.12712;EPPR=4.68386;GTI=0;LEN=1;MEANALT=3;MQM=28.7817;MQMR=32.2548;NS=1;NUMALT=1;ODDS=284.047;PAIRED=0.971831;PAIREDR=0.974522;PAO=0;PQA=0;PQR=0;PRO=0;QA=3289;QR=4676;RO=157;RPL=52;RPP=25.092;RPPR=28.5839;RPR=90;RUN=1;SAF=113;SAP=110.911;SAR=29;SF=0,1;SRF=130;SRP=149.744;SRR=27;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.285343;avsnp147=rs1757158;Kaviar_AF=0.322253;Kaviar_AC=49821;Kaviar_AN=154602;ExAC_ALL=0.4103;ExAC_AFR=0.4318;ExAC_AMR=0.4940;ExAC_EAS=0.2565;ExAC_FIN=0.4069;ExAC_NFE=0.4470;ExAC_OTH=0.4021;ExAC_SAS=0.2759;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2383;dpsi_zscore=0.793;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3500;gnomAD_exome_AFR=0.3724;gnomAD_exome_AMR=0.3988;gnomAD_exome_ASJ=0.3962;gnomAD_exome_EAS=0.1916;gnomAD_exome_FIN=0.3452;gnomAD_exome_NFE=0.3863;gnomAD_exome_OTH=0.3618;gnomAD_exome_SAS=0.2348;gnomAD_genome_ALL=0.3664;gnomAD_genome_AFR=0.3697;gnomAD_genome_AMR=0.4057;gnomAD_genome_ASJ=0.3510;gnomAD_genome_EAS=0.1821;gnomAD_genome_FIN=0.3628;gnomAD_genome_NFE=0.3856;gnomAD_genome_OTH=0.3337;Whole_Blood=Whole_Blood::0.351902::0.307818;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-143.949,0,-257.512:317:157:142:3289:4676 1/1:-754.775,-117.241,0:501:11:430:10495:207 0/1:-180.799,0,-288.616:381:179:163:3849:5268 . . 1/1:-890.963,-132.72,0:580:16:510:12456:330 1/1:-526.535,-74.4458,0:357:9:305:7477:239 1/1:-731.8,-113.82,0:478:9:412:10224:195 0/1:-215.813,0,-290.694:401:184:179:4494:5539 0/1:-168.252,0,-328.566:411:215:165:3916:6173 1/1:-567.633,-86.5869,0:389:12:332:8178:221 0/1:-146.874,0,-334.394:342:202:125:3211:5876 0/1:-204.66,0,-270.993:381:180:175:4034:5200 0/1:-152.497,0,-232.964:337:159:147:3435:4608 . . 1/1:-394.703,-51.5267,0:297:14:246:6010:384 . . . 0/1:-138.303,0,-249.199:309:154:128:3138:4406 . 0/1:-112.373,0,-139.293:229:104:106:2446:2972 0/1:-274.258,0,-402.646:540:256:243:5913:7544 . 0/1:-137.295,0,-224.812:320:156:136:3343:4535 . . 0/1:-167.758,0,-222.271:348:174:148:3587:5033 . . 0/1:-239.232,0,-335.229:434:212:196:4892:6104 0/1:-231.658,0,-398.704:492:261:206:4912:7425 0/1:-279.91,0,-522.558:618:325:242:5953:9404 . 0/1:-266.104,0,-390.64:510:255:218:5358:7411 0/1:-387.38,0,-602.93:786:381:338:8319:10988 1/1:-458.899,-72.8619,0:313:8:268:6413:156 1/1:-670.374,-108.834,0:465:9:404:9439:201 0/1:-186.844,0,-318.695:372:190:150:3887:5622 0/1:-208.362,0,-350.129:427:218:179:4457:6434 . . 0/1:-148.326,0,-401.529:418:242:151:3788:6910 0/1:-182.092,0,-379.644:440:235:169:4133:6987 . 0/1:-186.517,0,-402.422:473:249:182:4319:7255 0/1:-149.019,0,-262.034:320:161:132:3116:4539 . . . 0/1:-226.742,0,-284.314:428:203:202:4862:5914 0/1:-184.463,0,-366.629:459:245:188:4306:7009 . 0/1:-164.557,0,-265.062:378:198:158:3825:5557 . . 0/1:-102.526,0,-217.932:280:154:105:2427:4345 0/1:-92.1722,0,-295.829:316:186:112:2607:5269 1/1:-802.381,-113.142,0:591:27:492:11701:540 0/1:-128.356,0,-193.852:271:137:117:2866:3770 . 0/1:-235.758,0,-390.504:455:233:188:4848:7019 0/1:-133.531,0,-219.846:287:141:121:2920:4088 0/1:-199.929,0,-468.681:485:269:189:4721:8136 . 0/1:-117.495,0,-138.997:206:100:96:2478:2814 1/1:-604.557,-89.6392,0:394:7:334:8112:156 1/1:-766.071,-114.125,0:510:14:438:10657:353 0/1:-193.033,0,-359.587:460:243:181:4354:6950 1/1:-691.112,-97.2788,0:459:12:399:9584:334 0/1:-266.845,0,-455.924:551:282:232:5620:8267 0/1:-214.625,0,-383.289:465:248:194:4777:7100 0/1:-140.471,0,-194.66:310:147:138:3375:4112 . . 0/1:-269.945,0,-466.805:583:295:248:6071:8610 . 0/1:-168.232,0,-256.806:343:169:144:3585:4901 0/1:-163.011,0,-131.251:229:92:126:3150:2611 0/1:-267.58,0,-355.869:504:246:225:5853:7015 0/1:-220.611,0,-440.29:548:284:230:5245:8343 0/1:-221.777,0,-490.788:557:303:217:5064:8823 . 0/1:-232.198,0,-294.226:424:198:188:4774:5717 0/1:-222.682,0,-362.079:474:233:203:4768:6647 0/1:-169.132,0,-212.876:309:140:146:3592:4173 1/1:-741.84,-114.511,0:504:15:436:10630:288 1/1:-454.191,-71.113,0:293:6:254:6362:109 0/1:-182.564,0,-195.45:331:147:160:3934:4218 0/1:-269.123,0,-381.141:513:256:223:5633:7466 0/1:-238.809,0,-328.073:476:224:210:5025:6489 0/1:-257.572,0,-481.255:563:300:231:5579:8757 . 0/1:-251.975,0,-355.311:509:243:229:5388:6865 . 0/1:-495.002,0,-533.333:611:284:303:8350:8561:284,303 . . 0/1:-338.25,0,-396.593:422:207:195:5618:6221:207,195 . . . 0/1:-384.746,0,-448.2:474:232:230:6450:7234:232,230 0/1:-357.207,0,-394.018:442:208:219:6032:6382:208,219 0/1:-321.04,0,-548.126:506:280:204:5650:8531:280,204 . 0/1:-293.298,0,-366.254:387:191:180:4945:5812:191,180 . 0/1:-329.647,0,-406.673:425:206:201:5566:6386:206,201 . 0/1:-454.463,0,-380.857:504:211:270:7382:6363:211,270 . 0/1:-318.266,0,-385.001:410:198:199:5270:6294:198,199 0/1:-321.498,0,-398.533:428:210:204:5405:6429:210,204 0/1:-358.077,0,-498.933:490:253:225:6280:7875:253,225 chr1 228407059 . G T 2621.92 . AB=0.389163;ABP=46.3328;AC=7;AF=0.5;AN=14;AO=158;CIGAR=1X;DP=4994;DPB=406;DPRA=0;EPP=3.06527;EPPR=14.6393;GTI=0;LEN=1;MEANALT=3;MQM=29.6646;MQMR=31.3678;NS=1;NUMALT=1;ODDS=305.27;PAIRED=0.981013;PAIREDR=0.971074;PAO=0;PQA=0;PQR=0;PRO=0;QA=3843;QR=6793;RO=242;RPL=45;RPP=66.5602;RPPR=49.5265;RPR=113;RUN=1;SAF=107;SAP=46.1099;SAR=51;SF=0;SRF=164;SRP=69.3748;SRR=78;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2688T:p.A896A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0135783;avsnp147=rs141906801;Kaviar_AF=0.0252843;Kaviar_AC=3909;Kaviar_AN=154602;ExAC_ALL=0.0284;ExAC_AFR=0.0063;ExAC_AMR=0.0124;ExAC_EAS=0.0004;ExAC_FIN=0.0241;ExAC_NFE=0.0377;ExAC_OTH=0.0270;ExAC_SAS=0.0309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2908;dpsi_zscore=-1.624;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0255;gnomAD_exome_AFR=0.0048;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0244;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0207;gnomAD_exome_NFE=0.0369;gnomAD_exome_OTH=0.0235;gnomAD_exome_SAS=0.0286;gnomAD_genome_ALL=0.0231;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0178;gnomAD_genome_NFE=0.0370;gnomAD_genome_OTH=0.0275;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-154.325,0,-386.804:406:242:158:3843:6793 . . . . . . . . . . 0/1:-173.141,0,-484.867:497:303:186:4205:8628 . . 0/1:-591.238,0,-1357.07:1464:857:580:13984:24817 . . . . . . . . . . . . . . . . 0/1:-229.946,0,-473.661:566:325:226:5418:8994 . . . . . . . . . . . . . 0/1:-195.926,0,-339.203:428:239:177:4359:6529 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-371.055,0,-707.797:879:489:373:9097:13705 . . . . . . . . . . . . . . . . . 0/1:-339.194,0,-636.277:754:412:327:7695:11928 . . . . . . . . . . . . . . . . . . . . . . chr1 228407260 . G A 6122.44 . AB=0.425439;ABP=25.0298;AC=90;AF=0.5;AN=152;AO=194;CIGAR=1X;DP=53695;DPB=456;DPRA=0;EPP=3.0103;EPPR=3.89301;GTI=0;LEN=1;MEANALT=3;MQM=34.5515;MQMR=32.9431;NS=1;NUMALT=1;ODDS=597.191;PAIRED=0.953608;PAIREDR=0.906504;PAO=0;PQA=0;PQR=0;PRO=0;QA=5298;QR=7482;RO=246;RPL=124;RPP=35.6495;RPPR=65.2945;RPR=70;RUN=1;SAF=53;SAP=89.6901;SAR=141;SF=0,1;SRF=71;SRP=98.4845;SRR=175;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2889A:p.E963E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.277157;avsnp147=rs1771484;Kaviar_AF=0.319084;Kaviar_AC=49331;Kaviar_AN=154602;ExAC_ALL=0.3831;ExAC_AFR=0.3814;ExAC_AMR=0.4348;ExAC_EAS=0.2162;ExAC_FIN=0.3782;ExAC_NFE=0.4158;ExAC_OTH=0.3765;ExAC_SAS=0.2858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.9351;dpsi_zscore=2.221;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3448;gnomAD_exome_AFR=0.3413;gnomAD_exome_AMR=0.3928;gnomAD_exome_ASJ=0.3944;gnomAD_exome_EAS=0.1891;gnomAD_exome_FIN=0.3432;gnomAD_exome_NFE=0.3813;gnomAD_exome_OTH=0.3583;gnomAD_exome_SAS=0.2348;gnomAD_genome_ALL=0.3575;gnomAD_genome_AFR=0.3392;gnomAD_genome_AMR=0.4033;gnomAD_genome_ASJ=0.3510;gnomAD_genome_EAS=0.1828;gnomAD_genome_FIN=0.3627;gnomAD_genome_NFE=0.3852;gnomAD_genome_OTH=0.3313;Whole_Blood=Whole_Blood::0.347826::0.307926;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-279.373,0,-428.942:456:246:194:5298:7482 1/1:-1361.82,-188.13,0:796:15:703:18020:348 0/1:-352.053,0,-607.115:670:347:289:7171:10539 . . 1/1:-1823.31,-236.721,0:998:27:883:23777:534 1/1:-981.842,-140.004,0:528:6:487:12912:146 1/1:-1603.49,-208.105,0:924:26:820:21453:591 0/1:-542.443,0,-597.48:779:351:381:9801:10661 0/1:-411.173,0,-646.01:701:362:308:8034:11027 1/1:-1125.61,-159.747,0:630:9:566:15065:208 0/1:-368.442,0,-646.902:667:360:273:7246:11008 0/1:-450.511,0,-537.235:643:316:300:8011:9552 0/1:-277.516,0,-401.578:496:239:217:5694:7007 . . 1/1:-861.79,-113.073,0:493:11:435:11572:289 . . . 0/1:-358.265,0,-387.49:491:239:229:6199:7047 . 0/1:-288.298,0,-308.814:416:204:188:5065:5988 0/1:-566.749,0,-805.974:892:466:388:10822:13791 . 0/1:-260.397,0,-484.265:534:282:211:5513:8377 . . 0/1:-389.188,0,-436.131:592:266:290:7297:8105 . . 0/1:-425.702,0,-689.891:709:374:303:8305:11329 0/1:-477.442,0,-772.637:842:430:354:9140:12849 0/1:-635.267,0,-718.414:930:435:448:11422:12924 . 0/1:-601.335,0,-574.354:798:356:398:10716:10570 0/1:-734.464,0,-1076.39:1193:616:518:13819:18250 1/1:-1076.97,-147.797,0:566:8:511:13703:125 1/1:-1235.07,-165.782,0:693:18:611:16090:313 0/1:-386.894,0,-497.647:573:281:259:7143:8328 0/1:-478.841,0,-652.838:735:366:337:8757:11019 . . 0/1:-466.397,0,-588.459:684:344:316:8659:10315 0/1:-515.324,0,-630.433:733:351:336:9264:10601 . 0/1:-484.7,0,-594.778:733:353:345:8990:10691 0/1:-317.28,0,-418.168:468:235:219:5631:6935 . . . 0/1:-447.988,0,-458.555:656:290:328:8339:8535 0/1:-531.117,0,-673.527:782:386:365:9623:11563 . 0/1:-312.893,0,-382.839:526:251:247:6230:7252 . . 0/1:-264.155,0,-331.89:451:214:198:5117:6201 0/1:-250.236,0,-457.014:488:256:210:5230:7681 1/1:-1701.33,-242.123,0:956:12:853:22401:291 0/1:-234.302,0,-432.591:471:252:194:4927:7424 . 0/1:-494.725,0,-502.028:697:317:335:8679:9294 0/1:-323.808,0,-395.344:497:239:238:6097:7114 0/1:-537.367,0,-765.959:868:446:386:10318:13267 . 0/1:-205.969,0,-310.273:398:199:176:4378:5724 1/1:-1241.36,-160.04,0:697:15:621:16369:405 1/1:-1397.29,-183.505,0:795:24:719:18414:543 0/1:-465.133,0,-584.868:741:357:346:8937:10505 1/1:-1297.04,-166.331,0:727:22:646:16916:454 0/1:-684.482,0,-742.032:938:432:456:12188:12886 0/1:-475.213,0,-644.222:756:366:345:9004:11012 0/1:-281.278,0,-326.622:483:221:230:6111:6389 . . 0/1:-620.46,0,-719.046:898:409:444:11385:12386 . 0/1:-285.012,0,-416.408:456:230:200:5226:7039 0/1:-291.989,0,-327.578:420:196:203:5217:5879 0/1:-503.82,0,-674.275:794:393:359:9461:11712 0/1:-603.929,0,-692.507:908:411:436:11169:12326 0/1:-494.565,0,-773.471:877:456:382:9840:13648 . 0/1:-380.358,0,-607.992:690:360:291:7457:10798 0/1:-455.658,0,-607.909:716:351:326:8361:10540 0/1:-331.517,0,-331.646:435:191:217:5866:6126 1/1:-1328.39,-175.332,0:739:19:671:17990:438 1/1:-834.731,-121.814,0:460:5:422:11055:83 0/1:-370.391,0,-560.91:642:330:276:7167:9723 0/1:-469.298,0,-735.229:803:409:356:9189:12548 0/1:-503.178,0,-590.884:722:338:341:9106:10355 0/1:-523.567,0,-777.922:884:455:377:10089:13494 . 0/1:-498.139,0,-722.684:860:439:379:9579:12854 . 0/1:-983.851,0,-1174.02:1075:553:502:15226:17421:553,502 . . 0/1:-626.87,0,-719.447:679:344:320:9750:10816:344,320 . . . 0/1:-917.183,0,-983.267:959:474:467:14009:14936:474,467 0/1:-692.141,0,-962.484:813:436:361:11005:14178:436,361 0/1:-949.827,0,-917.83:943:456:465:14193:14179:456,465 . 0/1:-633.631,0,-691.921:647:320:315:9661:10261:320,315 . 0/1:-778.999,0,-718.147:739:341:383:11737:10884:341,383 . 0/1:-766.017,0,-888.002:821:415:390:11948:13247:415,390 . 0/1:-786.712,0,-727.028:768:363:394:11919:11116:363,394 0/1:-688.103,0,-838.416:745:389:343:10648:12411:389,343 0/1:-842.073,0,-986.702:912:464:433:13186:14737:464,433 chr1 228407265 . G A 3903.40 . AB=0.455128;ABP=16.6516;AC=2;AF=0.5;AN=4;AO=355;CIGAR=1X;DP=1211;DPB=780;DPRA=0;EPP=9.67152;EPPR=4.58312;GTI=0;LEN=1;MEANALT=3;MQM=33.5887;MQMR=35.0902;NS=1;NUMALT=1;ODDS=1136.26;PAIRED=0.985915;PAIREDR=0.917293;PAO=0;PQA=0;PQR=0;PRO=0;QA=9643;QR=12129;RO=399;RPL=239;RPP=95.5517;RPPR=130.409;RPR=116;RUN=1;SAF=106;SAP=128.093;SAR=249;SF=0;SRF=111;SRP=173.512;SRR=288;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2894A:p.R965K;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0429313;avsnp147=rs61560753;Kaviar_AF=0.0318237;Kaviar_AC=4920;Kaviar_AN=154602;ExAC_ALL=0.0489;ExAC_AFR=0.0064;ExAC_AMR=0.0822;ExAC_EAS=0.1402;ExAC_FIN=0.0697;ExAC_NFE=0.0358;ExAC_OTH=0.0443;ExAC_SAS=0.0466;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.59;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.02;CADD_raw=0.971;CADD_phred=10.49;DANN_score=0.753;fathmm-MKL_coding_score=0.204;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.284;integrated_confidence_value=0;GERP++_RS=4.6;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.902;SiPhy_29way_logOdds=7.463;GDI_full_10282015=.;dpsi_max_tissue=2.8550;dpsi_zscore=2.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0375;gnomAD_exome_AFR=0.0054;gnomAD_exome_AMR=0.0500;gnomAD_exome_ASJ=0.0066;gnomAD_exome_EAS=0.1162;gnomAD_exome_FIN=0.0504;gnomAD_exome_NFE=0.0266;gnomAD_exome_OTH=0.0334;gnomAD_exome_SAS=0.0312;gnomAD_genome_ALL=0.0336;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0561;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.1174;gnomAD_genome_FIN=0.0553;gnomAD_genome_NFE=0.0339;gnomAD_genome_OTH=0.0540;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-524.602,0,-720.627:780:399:355:9643:12129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-307.328,0,-398.986:431:217:202:5482:6747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228412227 . TG CA,CG 6623.58 . AB=0.400275;ABP=65.8098;AC=90,3;AF=0.5;AN=156;AO=291;CIGAR=2X;DP=73888;DPB=732;DPRA=0;EPP=5.70412;EPPR=38.4777;GTI=0;LEN=2;MEANALT=17;MQM=28.0103;MQMR=31.4986;NS=1;NUMALT=1;ODDS=694.838;PAIRED=0.924399;PAIREDR=0.917355;PAO=1;PQA=16;PQR=0;PRO=6;QA=7443;QR=10736;RO=363;RPL=126;RPP=14.3602;RPPR=40.3441;RPR=165;RUN=1;SAF=193;SAP=70.3558;SAR=98;SF=0,1;SRF=228;SRP=54.7488;SRR=135;TYPE=mnp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=OBSCN:NM_001098623:exon9:c.2721_2722CA,OBSCN:NM_052843:exon9:c.2721_2722CA,OBSCN:NM_001271223:exon10:c.2997_2998CA;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386640006;Kaviar_AF=0.0134927;Kaviar_AC=2086;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.T2721C:p.S907S,OBSCN:NM_052843:exon9:c.T2721C:p.S907S,OBSCN:NM_001271223:exon10:c.T2997C:p.S999S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.41254;avsnp147=rs1771480;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;ExAC_ALL=0.4000;ExAC_AFR=0.5881;ExAC_AMR=0.4768;ExAC_EAS=0.4163;ExAC_FIN=0.3488;ExAC_NFE=0.3914;ExAC_OTH=0.3616;ExAC_SAS=0.2840;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3512;dpsi_zscore=1.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3993;gnomAD_exome_AFR=0.5866;gnomAD_exome_AMR=0.4697;gnomAD_exome_ASJ=0.4082;gnomAD_exome_EAS=0.4185;gnomAD_exome_FIN=0.3517;gnomAD_exome_NFE=0.3905;gnomAD_exome_OTH=0.3945;gnomAD_exome_SAS=0.2829;gnomAD_genome_ALL=0.4390;gnomAD_genome_AFR=0.5698;gnomAD_genome_AMR=0.4651;gnomAD_genome_ASJ=0.3775;gnomAD_genome_EAS=0.3922;gnomAD_genome_FIN=0.3708;gnomAD_genome_NFE=0.3890;gnomAD_genome_OTH=0.3528;Whole_Blood=Whole_Blood::0.392954::0.324141;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-318.523,0,-604.218,.,.,.:727:363:291,.:7443,.:10736 1/1:-1741.39,-274.39,0,.,.,.:1081:10:989,.:25126,.:317 0/1:-500.296,0,-798.919,.,.,.:973:468:427,.:10884,.:14042 . . 1/1:-1991.11,-301.071,0,.,.,.:1201:13:1074,.:27766,.:361 1/1:-1205.56,-195.286,0,.,.,.:786:11:714,.:17701,.:316 1/1:-1490.98,-215.835,0,.,.,.:945:20:842,.:21077,.:596 0/1:-396.754,0,-882.29,.,.,.:948:490:372,.:9310,.:14714 0/1:-444.188,0,-929.091,.,.,.:1057:533:439,.:10998,.:16001 1/1:-1154.88,-173.794,0,.,.,.:752:14:662,.:16487,.:401 0/1:-360.943,0,-865.319,.,.,.:894:481:338,.:8343,.:14539 0/1:-380.451,0,-780.841,.,.,.:879:439:361,.:8924,.:13144 0/1:-351.432,0,-669.145,.,.,.:785:386:324,.:8009,.:11488 . . 1/1:-1050.42,-165.39,0,.,.,.:693:12:634,.:16181,.:358 . . . 0/1:-386.63,0,-605.436,.,.,.:765:365:334,.:8484,.:10747 . 0/1:-209.159,0,-551.08,.,.,.:573:318:211,.:5458,.:9559 1/2:-1880.61,-1070.4,-928.39,-795.442,0,-616.408:1257:13:525,657:13569,15510:382 . 0/1:-336.15,0,-712.343,.,.,.:826:423:330,.:8124,.:12660 . . 0/1:-349.737,0,-584.458,.,.,.:724:356:307,.:7855,.:10350 . . 0/1:-550.368,0,-1035.99,.,.,.:1131:589:469,.:12130,.:17816 0/1:-526.412,0,-819.261,.,.,.:960:455:429,.:10851,.:13883 0/1:-506.568,0,-900.328,.,.,.:1030:517:427,.:10595,.:15443 . 0/1:-560.771,0,-920.477,.,.,.:1120:534:498,.:12208,.:16080 0/1:-665.191,0,-1138.89,.,.,.:1317:655:548,.:13693,.:19573 1/1:-986.52,-164.53,0,.,.,.:632:4:569,.:14783,.:118 1/1:-1442.76,-236.262,0,.,.,.:928:9:831,.:19948,.:258 0/1:-328.103,0,-630.005,.,.,.:685:352:281,.:7264,.:10492 0/1:-614.529,0,-1017.35,.,.,.:1183:582:507,.:12915,.:17473 0/2:.,.,.,.,.,-666.71:1020:433:.,554:.,16250:12487 . 0/1:-431.422,0,-741.656,.,.,.:882:435:376,.:9361,.:12614 0/1:-485.664,0,-971.751,.,.,.:1098:558:429,.:10940,.:16581 . 0/1:-470.094,0,-1018.71,.,.,.:1053:554:409,.:10618,.:16718 0/1:-290.69,0,-480.123,.,.,.:567:282:249,.:6125,.:8424 . . . 0/1:-408.69,0,-835.254,.,.,.:977:496:400,.:9735,.:14888 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0/2:.,.,.,.,.,-697.831:857:445:.,384:.,11428:12639 . 0/1:-554.222,0,-996.498,.,.,.:1132:563:467,.:11778,.:17027 . 0/1:-260.929,0,-553.185,.,.,.:656:333:248,.:6124,.:9770 0/1:-207.197,0,-594.914,.,.,.:591:324:215,.:5042,.:9869 0/1:-475.621,0,-836.433,.,.,.:972:483:404,.:10268,.:14246 0/1:-503.88,0,-1003.52,.,.,.:1095:567:459,.:11154,.:16935 0/1:-503.92,0,-971.593,.,.,.:1127:568:448,.:11572,.:16729 . 0/1:-424.253,0,-817.384,.,.,.:939:474:380,.:8998,.:14101 0/1:-360.11,0,-852.847,.,.,.:885:481:328,.:8078,.:14227 0/1:-318.936,0,-671.986,.,.,.:724:371:283,.:7167,.:11312 1/1:-1473.91,-236.381,0,.,.,.:964:13:864,.:21462,.:371 1/1:-872.434,-137.79,0,.,.,.:519:3:477,.:12111,.:88 0/1:-399.53,0,-800.543,.,.,.:898:460:356,.:9019,.:13878 0/1:-503.065,0,-1004.47,.,.,.:1106:567:437,.:11369,.:16963 0/1:-438.166,0,-861.859,.,.,.:935:479:383,.:9775,.:14571 0/1:-599.561,0,-992.785,.,.,.:1157:573:495,.:12641,.:17101 . 0/1:-546.42,0,-1085.47,.,.,.:1208:615:488,.:12176,.:18407 . 0/1:-1032.07,0,-1470.01,.,.,.:1423:760:612,.:18780,.:23472:760,612 . . 0/1:-672.773,0,-803.218,.,.,.:839:413:388,.:11752,.:12710:413,388 . . . 0/1:-961.872,0,-1413.44,.,.,.:1360:717:587,.:17898,.:22368:717,587 0/1:-808.247,0,-1301.71,.,.,.:1202:649:505,.:15604,.:20412:649,505 0/1:-917.875,0,-1395.23,.,.,.:1327:695:578,.:17674,.:21744:695,578 . 0/1:-661.828,0,-1095.58,.,.,.:1010:555:408,.:12533,.:17248:555,408 . 0/1:-782.008,0,-1122.28,.,.,.:1094:572:477,.:14636,.:17780:572,477 . 0/1:-858.492,0,-1244.85,.,.,.:1194:633:511,.:15774,.:19781:633,511 . 0/1:-686.563,0,-1336.15,.,.,.:1160:659:438,.:13428,.:20686:659,438 0/1:-624.504,0,-1116.79,.,.,.:968:543:394,.:12175,.:17170:543,394 0/1:-927.634,0,-1338.8,.,.,.:1294:687:561,.:17368,.:21410:687,561 chr1 228412308 . G A 7473.06 . AB=0.445652;ABP=21.8927;AC=93;AF=0.5;AN=156;AO=328;CIGAR=1X;DP=72713;DPB=736;DPRA=0;EPP=101.547;EPPR=80.5374;GTI=0;LEN=1;MEANALT=3;MQM=29.2927;MQMR=30.4795;NS=1;NUMALT=1;ODDS=993.097;PAIRED=0.954268;PAIREDR=0.912821;PAO=0;PQA=0;PQR=0;PRO=0;QA=9264;QR=12316;RO=390;RPL=188;RPP=18.2636;RPPR=121.695;RPR=140;RUN=1;SAF=153;SAP=6.21455;SAR=175;SF=0,1;SRF=188;SRP=4.1016;SRR=202;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.G2802A:p.S934S,OBSCN:NM_052843:exon9:c.G2802A:p.S934S,OBSCN:NM_001271223:exon10:c.G3078A:p.S1026S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4471;esp6500siv2_ea=0.3925;esp6500siv2_all=0.4471;esp6500siv2_ea=0.3925;1000g2015aug_all=0.41254;avsnp147=rs1757152;Kaviar_AF=0.394186;Kaviar_AC=60942;Kaviar_AN=154602;ExAC_ALL=0.4010;ExAC_AFR=0.5867;ExAC_AMR=0.4760;ExAC_EAS=0.4144;ExAC_FIN=0.3495;ExAC_NFE=0.3933;ExAC_OTH=0.3641;ExAC_SAS=0.2848;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.0063;dpsi_zscore=-2.156;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4006;gnomAD_exome_AFR=0.5865;gnomAD_exome_AMR=0.4696;gnomAD_exome_ASJ=0.4087;gnomAD_exome_EAS=0.4183;gnomAD_exome_FIN=0.3520;gnomAD_exome_NFE=0.3930;gnomAD_exome_OTH=0.3962;gnomAD_exome_SAS=0.2840;gnomAD_genome_ALL=0.4421;gnomAD_genome_AFR=0.5710;gnomAD_genome_AMR=0.4690;gnomAD_genome_ASJ=0.3775;gnomAD_genome_EAS=0.3914;gnomAD_genome_FIN=0.3716;gnomAD_genome_NFE=0.3944;gnomAD_genome_OTH=0.3569;Whole_Blood=Whole_Blood::0.398374::0.323916;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-451.263,0,-662.8:736:390:328:9264:12316 1/1:-1879.26,-250.915,0:1056:29:998:28063:731 0/1:-550.935,0,-762.524:866:443:406:11714:14050 . . 1/1:-2365.04,-315.968,0:1235:24:1183:34375:644 1/1:-1372.82,-193.876,0:783:19:739:20748:451 1/1:-1749.21,-228.045,0:963:26:912:25804:787 0/1:-584.03,0,-952.113:964:511:435:12620:16172 0/1:-527.794,0,-1060.86:1021:580:427:12347:18444 1/1:-1421.99,-191.367,0:762:15:732:20865:436 0/1:-448.77,0,-926.039:889:524:348:10068:16373 0/1:-501.735,0,-907.789:882:477:387:11119:15395 0/1:-454.643,0,-728.362:809:429:369:10364:13370 . . 1/1:-1215.56,-165.558,0:706:21:672:18795:528 . . . 0/1:-484.253,0,-605.344:716:362:339:9948:11177 . 0/1:-221.419,0,-594.1:545:333:203:5747:10401 1/1:-2211.33,-292.079,0:1155:27:1110:32442:695 . 0/1:-455.654,0,-674.889:784:412:359:10228:12690 . . 0/1:-457.921,0,-657.642:751:384:353:9885:11902 . . 0/1:-677.322,0,-1012.6:1063:569:485:13824:18111 0/1:-616.142,0,-937.952:988:524:444:12823:16592 0/1:-644.876,0,-914.639:1005:523:467:13165:16307 . 0/1:-684.254,0,-999.298:1122:578:528:15341:18311 0/1:-792.067,0,-1256.46:1322:708:580:16134:22165 1/1:-1244.23,-188.368,0:676:5:651:18531:114 1/1:-1713.11,-241.38,0:906:13:868:25057:379 0/1:-343.127,0,-718.533:691:399:278:7878:12388 0/1:-723.722,0,-1063.26:1148:607:521:15319:19267 0/1:-643.212,0,-815.939:968:475:464:13104:14638 . 0/1:-510.939,0,-847.759:845:463:363:10785:14584 0/1:-579.345,0,-1070.59:1065:604:448:12955:19127 . 0/1:-632.022,0,-1025.93:1056:575:465:13480:18091 0/1:-358.191,0,-559.096:589:322:255:7297:10077 . . . 0/1:-543.61,0,-850.605:955:508:428:11778:15583 0/1:-698.234,0,-1036.39:1113:582:515:14961:18411 . 0/1:-398.092,0,-672.706:717:386:314:8898:12021 . . 0/1:-383.855,0,-565.454:643:342:285:8025:10716 0/1:-354.185,0,-777.08:735:427:294:8301:13568 1/1:-2094.94,-288.991,0:1105:22:1054:29505:520 0/1:-315.972,0,-620.261:623:345:266:7687:10772 . 0/1:-459.319,0,-949.993:908:524:369:10354:16149 0/1:-283.59,0,-565.497:599:337:249:7102:10455 0/1:-636.092,0,-1098.92:1126:631:473:13642:19682 . 0/1:-301.638,0,-441.896:507:270:224:6216:8292 1/1:-1485.95,-190.858,0:786:19:749:21601:527 1/1:-1579.67,-232.731,0:870:14:827:23044:315 0/1:-511.006,0,-1085.75:1028:601:412:11764:19094 1/1:-1797.06,-244.634,0:945:16:904:25731:404 0/1:-746.285,0,-1264.25:1311:722:565:16501:22798 0/1:-657.481,0,-1004.89:1069:560:484:14074:17676 0/1:-340.526,0,-655.628:754:414:317:8362:12152 0/1:-328.657,0,-811.165:772:457:302:8543:14446 . 0/1:-748.227,0,-1035.73:1136:586:534:15264:18677 . 0/1:-365.449,0,-674.804:667:377:274:7834:11774 0/1:-294.632,0,-529.074:552:301:235:6591:9648 0/1:-601.824,0,-971.557:1014:551:449:12919:17316 0/1:-499.992,0,-1074.68:1057:607:424:11530:19108 0/1:-553.429,0,-1223.35:1141:673:450:12546:21318 . 0/1:-531.184,0,-967.997:961:551:385:11130:16910 0/1:-444.774,0,-952.873:883:522:342:10165:16181 0/1:-405.713,0,-643.163:689:359:320:9069:11396 1/1:-1703.81,-233.102,0:950:22:897:25622:619 1/1:-994.902,-136.695,0:500:5:486:14132:132 0/1:-485.901,0,-774.444:846:446:381:10765:14227 0/1:-574.015,0,-1098.44:1085:617:445:13143:19563 0/1:-667.507,0,-807.758:966:471:473:13289:14718 0/1:-718.336,0,-973.034:1076:559:500:14333:17481 . 0/1:-681.557,0,-1139.21:1181:641:522:14816:19913 . 0/1:-1019.45,0,-1486.6:1413:773:625:19567:24509:773,625 . . 0/1:-628.543,0,-808.593:782:407:369:11281:13061:407,369 . . . 0/1:-936.321,0,-1318.53:1247:671:566:17683:21675:671,566 0/1:-784.397,0,-1236.45:1121:627:484:15372:19996:627,484 0/1:-970.727,0,-1363.97:1312:690:615:19486:22315:690,615 . 0/1:-692.057,0,-1083.22:986:549:430:13665:17437:549,430 . 0/1:-739.769,0,-1134.64:1045:578:461:14458:18621:578,461 . 0/1:-775.224,0,-1253.01:1128:633:489:15245:20234:633,489 . 0/1:-808.355,0,-1233.31:1132:636:491:15526:20406:636,491 0/1:-647.412,0,-1048.11:927:516:407:12830:16676:516,407 0/1:-885.015,0,-1428.92:1283:729:549:17485:23471:729,549 chr1 228412370 . C T 3223.12 . AB=0.37931;ABP=109.412;AC=1;AF=0.5;AN=2;AO=319;CIGAR=1X;DP=841;DPB=841;DPRA=0;EPP=6.01224;EPPR=38.1523;GTI=0;LEN=1;MEANALT=3;MQM=32.6865;MQMR=33.4587;NS=1;NUMALT=1;ODDS=742.15;PAIRED=0.946708;PAIREDR=0.96789;PAO=0;PQA=0;PQR=0;PRO=0;QA=7520;QR=12706;RO=436;RPL=247;RPP=211.478;RPPR=206.232;RPR=72;RUN=1;SAF=98;SAP=105.995;SAR=221;SF=0;SRF=149;SRP=97.8578;SRR=287;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.C2864T:p.A955V,OBSCN:NM_052843:exon9:c.C2864T:p.A955V,OBSCN:NM_001271223:exon10:c.C3140T:p.A1047V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;1000g2015aug_all=0.00179712;avsnp147=rs369659740;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0.0028;ExAC_FIN=0;ExAC_NFE=3.013e-05;ExAC_OTH=0;ExAC_SAS=6.066e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.157;SIFT_pred=T;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.805;Polyphen2_HVAR_pred=P;LRT_score=0.670;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.19;MutationAssessor_pred=M;FATHMM_score=3.5;FATHMM_pred=T;PROVEAN_score=-1.51;PROVEAN_pred=N;VEST3_score=0.061;CADD_raw=1.159;CADD_phred=11.53;DANN_score=0.992;fathmm-MKL_coding_score=0.111;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.037;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=-2.53;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.017;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.009;SiPhy_29way_logOdds=0.604;GDI_full_10282015=.;dpsi_max_tissue=-1.2231;dpsi_zscore=-1.590;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0031;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.692e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-366.648,0,-756.974:841:436:319:7520:12706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228430865 . T G 1687.59 . AB=0.562232;ABP=10.8481;AC=1;AF=0.5;AN=2;AO=131;CIGAR=1X;DP=233;DPB=233;DPRA=0;EPP=4.35297;EPPR=7.44372;GTI=0;LEN=1;MEANALT=3;MQM=30.8015;MQMR=31.6771;NS=1;NUMALT=1;ODDS=289.454;PAIRED=0.984733;PAIREDR=0.864583;PAO=0;PQA=0;PQR=0;PRO=0;QA=3674;QR=2958;RO=96;RPL=30;RPP=86.5705;RPPR=39.2015;RPR=101;RUN=1;SAF=100;SAP=81.9292;SAR=31;SF=0;SRF=83;SRP=113.846;SRR=13;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0082;esp6500siv2_ea=.;esp6500siv2_all=0.0082;esp6500siv2_ea=.;1000g2015aug_all=0.00798722;avsnp147=rs114819974;Kaviar_AF=0.0021992;Kaviar_AC=340;Kaviar_AN=154602;ExAC_ALL=0.0033;ExAC_AFR=0.0384;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0017;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0548;dpsi_zscore=0.319;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0260;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.499e-05;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0076;gnomAD_genome_AFR=0.0268;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.659e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-193.795,0,-149.761:233:96:131:3674:2958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228431095 . A G 14321.65 . AB=0.48766;ABP=4.35005;AC=144;AF=0.5;AN=198;AO=494;CIGAR=1X;DP=109378;DPB=1013;DPRA=0;EPP=5.13782;EPPR=5.16397;GTI=0;LEN=1;MEANALT=3;MQM=31.6053;MQMR=33.6107;NS=1;NUMALT=1;ODDS=1592.74;PAIRED=0.923077;PAIREDR=0.920082;PAO=0;PQA=0;PQR=0;PRO=0;QA=13590;QR=14309;RO=488;RPL=368;RPP=260.44;RPPR=170.481;RPR=126;RUN=1;SAF=200;SAP=41.8506;SAR=294;SF=0,1;SRF=194;SRP=47.5077;SRR=294;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon10:c.A3141G:p.T1047T,OBSCN:NM_052843:exon10:c.A3141G:p.T1047T,OBSCN:NM_001271223:exon11:c.A3417G:p.T1139T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7003;esp6500siv2_ea=0.6828;esp6500siv2_all=0.7003;esp6500siv2_ea=0.6828;1000g2015aug_all=0.616613;avsnp147=rs1771455;Kaviar_AF=0.640968;Kaviar_AC=99095;Kaviar_AN=154602;ExAC_ALL=0.6499;ExAC_AFR=0.7051;ExAC_AMR=0.6700;ExAC_EAS=0.5783;ExAC_FIN=0.7014;ExAC_NFE=0.6797;ExAC_OTH=0.6205;ExAC_SAS=0.5015;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4947;dpsi_zscore=1.777;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6494;gnomAD_exome_AFR=0.7020;gnomAD_exome_AMR=0.6802;gnomAD_exome_ASJ=0.6343;gnomAD_exome_EAS=0.5779;gnomAD_exome_FIN=0.6980;gnomAD_exome_NFE=0.6767;gnomAD_exome_OTH=0.6502;gnomAD_exome_SAS=0.5002;gnomAD_genome_ALL=0.6885;gnomAD_genome_AFR=0.7037;gnomAD_genome_AMR=0.6921;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5489;gnomAD_genome_FIN=0.7149;gnomAD_genome_NFE=0.6910;gnomAD_genome_OTH=0.6711;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-729.895,0,-790.515:1013:488:494:13590:14309 1/1:-2497.03,-340.763,0:1232:13:1193:33371:328 1/1:-1859.19,-244.55,0:935:15:894:25104:422 0/1:-509.071,0,-678.466:769:400:348:9485:11838 0/1:-757.68,0,-890.231:1125:551:531:14710:16063 1/1:-2799.56,-387.159,0:1393:14:1339:37116:353 1/1:-1945.36,-270.216,0:965:10:928:25893:166 1/1:-2433.73,-324.294,0:1219:15:1167:32677:395 1/1:-2022.48,-263.637,0:980:13:943:26424:302 1/1:-2474.57,-344.964,0:1239:13:1205:32828:320 1/1:-2047.69,-285.183,0:1043:11:992:27074:247 0/1:-764.145,0,-759.904:1017:476:498:13905:13984 1/1:-1969.72,-257.813,0:984:14:940:26216:384 1/1:-1840.32,-264.746,0:933:9:896:24932:190 . . 1/1:-1645.08,-224.742,0:829:8:803:22346:244 . 0/1:-764.196,0,-870.781:1042:514:496:13905:15454 . 1/1:-1586.87,-217.021,0:808:12:766:21266:265 0/1:-943.853,0,-974.453:1230:602:584:16846:17733 0/1:-453.401,0,-504.816:660:317:316:8478:9270 1/1:-2833.66,-382.739,0:1364:13:1329:37469:284 . 1/1:-1595.63,-234.162,0:806:5:783:21609:70 . 1/1:-2100.7,-275.078,0:1018:10:987:28100:286 0/1:-551.29,0,-651.91:856:419:398:10899:12126 1/1:-1796.31,-227.836,0:866:14:833:23535:388 1/1:-1785.2,-241.255,0:878:9:849:23793:226 0/1:-1038.33,0,-1212.19:1480:745:693:19373:21272 0/1:-692.7,0,-1020.28:1114:576:486:13198:17350 1/1:-2269.27,-307.609,0:1116:10:1073:30128:236 0/1:-870.292,0,-836.553:1107:522:551:15522:15160 1/1:-2491.25,-353.334,0:1233:5:1191:32917:101 1/1:-2882.8,-397.697,0:1407:10:1353:38033:200 1/1:-2160.97,-299.283,0:1052:8:1012:28209:176 1/1:-2105.55,-288.679,0:1079:18:1031:28059:420 0/1:-620.113,0,-546.694:789:352:400:10887:10024 1/1:-2663.53,-361.177,0:1278:13:1243:34918:297 0/1:-718.934,0,-786.328:998:493:476:13259:14236 . 0/1:-619.278,0,-807.951:950:484:424:11963:13996 0/1:-959.551,0,-1159.49:1389:706:641:18303:20199 . 1/1:-2307,-325.244,0:1118:3:1092:30331:55 0/1:-388.988,0,-529.126:628:325:275:7428:9437 . . 0/1:-965.932,0,-1008.49:1305:621:634:17704:17885 1/1:-1839.2,-271.71,0:989:9:951:25631:250 0/1:-935.64,0,-1134.59:1354:672:630:17538:19502 . 1/1:-1485.81,-216.134,0:765:7:735:20125:169 . . 0/1:-464.126,0,-389.874:630:274:327:8785:7820 0/1:-535.873,0,-654.823:798:398:371:10387:11545 1/1:-2335.68,-309.905,0:1140:17:1098:30999:423 0/1:-498.963,0,-443.753:662:293:340:9339:8627 0/1:-1072.96,0,-1005.35:1372:633:685:18995:18251 0/1:-734.723,0,-727.806:952:450:471:13119:12940 0/1:-510.595,0,-647.969:797:402:359:9772:11697 1/1:-2597.18,-332.222,0:1316:26:1246:34800:722 1/1:-2394.78,-323.944,0:1175:16:1139:31776:352 0/1:-496.045,0,-529.134:718:334:353:9735:9757 1/1:-2038.6,-270.342,0:1021:14:970:26857:363 1/1:-1696.98,-223.195,0:831:12:799:22523:328 0/1:-786.872,0,-792.417:1049:499:504:14329:14430 1/1:-2018.36,-281.6,0:992:5:965:27296:158 0/1:-1068.27,0,-1328.04:1490:760:681:19333:22591 1/1:-2532.78,-341.285,0:1241:11:1193:33148:305 0/1:-393.181,0,-526.138:694:343:308:8201:9913 1/1:-1921.3,-266.794,0:949:10:915:25234:193 0/1:-1023.77,0,-995.089:1375:638:683:18728:18488 0/1:-823.754,0,-926.955:1192:579:560:15564:16896 0/1:-1012.47,0,-834.354:1220:533:631:17534:15740 1/1:-1407.53,-182.364,0:689:10:668:18496:268 1/1:-1285.55,-164.156,0:633:12:606:17535:376 0/1:-964.497,0,-810.279:1169:516:610:16969:15144 0/1:-909.755,0,-929.628:1231:582:607:16954:16896 0/1:-955.172,0,-800.622:1180:521:614:17625:15082 . 0/1:-725.218,0,-641.702:932:413:487:13326:11911 1/1:-1859.28,-260.183,0:957:14:915:25498:311 1/1:-1532.91,-208.319,0:755:9:728:20371:232 1/1:-2167.22,-299.255,0:1078:17:1032:28637:314 1/1:-1436.98,-202.453,0:692:3:675:18873:64 0/1:-618.901,0,-786.079:936:481:415:11612:13895 0/1:-1209.9,0,-1057.88:1502:671:771:21615:19549 0/1:-743.388,0,-727.253:976:451:490:13476:13189 0/1:-1009.34,0,-1031.62:1320:639:641:18022:18406 0/1:-861.444,0,-898.433:1146:541:562:15589:16014 0/1:-971.421,0,-840.807:1227:542:638:17561:15787 . 0/1:-1416.8,0,-1522.99:1481:737:727:22494:23596:737,727 . 0/1:-1461.22,0,-1420.1:1453:699:730:22916:22093:699,730 0/1:-754.527,0,-913.99:843:445:391:12055:13951:445,391 . 1/1:-3985.23,-460.231,0:1597:4:1559:48608:118:4,1559 0/1:-1340.99,0,-1320.53:1332:634:674:20895:20448:634,674 0/1:-1346.43,0,-1648.29:1504:782:696:21483:25004:782,696 1/1:-3380.68,-363.37,0:1365:15:1334:41682:498:15,1334 0/1:-1475.43,0,-1357.91:1459:678:756:23335:21278:678,756 0/1:-1233.91,0,-1527.8:1397:732:650:20010:22989:732,650 0/1:-1127.39,0,-1161.54:1153:569:570:17596:18085:569,570 1/1:-3418.63,-398.151,0:1360:4:1334:41268:100:4,1334 0/1:-1388.18,0,-1376.89:1376:663:693:21634:21196:663,693 0/1:-1495.57,0,-1487.21:1552:757:773:23852:23659:757,773 0/1:-1254.33,0,-1350.86:1338:660:648:19778:20906:660,648 0/1:-1525.9,0,-1646.02:1633:815:783:24285:25667:815,783 0/1:-1258.37,0,-1328.8:1285:635:630:19723:20262:635,630 1/1:-3247.59,-361.817,0:1286:9:1260:39184:258:9,1260 1/1:-3866.46,-430.876,0:1572:13:1534:47589:430:13,1534 chr1 228432108 . C A,T 2212.68 . AB=0.389359;ABP=90.9431;AC=1,1;AF=0.5;AN=4;AO=322;CIGAR=1X;DP=1665;DPB=827;DPRA=0;EPP=3.98139;EPPR=18.0408;GTI=0;LEN=1;MEANALT=3;MQM=17.1832;MQMR=17.9897;NS=1;NUMALT=1;ODDS=380.552;PAIRED=0.944099;PAIREDR=0.965021;PAO=0;PQA=0;PQR=0;PRO=0;QA=8689;QR=14221;RO=486;RPL=111;RPP=70.4473;RPPR=76.2148;RPR=211;RUN=1;SAF=180;SAP=12.7482;SAR=142;SF=0;SRF=275;SRP=21.3114;SRR=211;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.C3317A:p.T1106K,OBSCN:NM_052843:exon11:c.C3317A:p.T1106K,OBSCN:NM_001271223:exon12:c.C3593A:p.T1198K;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs368159429;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.796e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.842;SIFT_pred=T;Polyphen2_HDIV_score=0.144;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_pred=B;LRT_score=0.029;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.56;MutationAssessor_pred=N;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_pred=N;VEST3_score=0.229;CADD_raw=0.266;CADD_phred=5.354;DANN_score=0.742;fathmm-MKL_coding_score=0.015;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.993;MetaSVM_pred=T;MetaLR_score=0.112;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.72;phyloP7way_vertebrate=-0.006;phyloP20way_mammalian=0.005;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.930;SiPhy_29way_logOdds=6.887;GDI_full_10282015=.;dpsi_max_tissue=-0.6890;dpsi_zscore=-1.260;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.655e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.371e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.C3317T:p.T1106M,OBSCN:NM_052843:exon11:c.C3317T:p.T1106M,OBSCN:NM_001271223:exon12:c.C3593T:p.T1198M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000399361;avsnp147=rs368159429;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=9.936e-05;ExAC_AFR=0.0001;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=5.994e-05;ExAC_OTH=0.0011;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.909;Polyphen2_HVAR_pred=D;LRT_score=0.029;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.03;MutationAssessor_pred=M;FATHMM_score=-0.35;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_pred=N;VEST3_score=0.251;CADD_raw=0.991;CADD_phred=10.61;DANN_score=0.812;fathmm-MKL_coding_score=0.115;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.576;MetaSVM_pred=T;MetaLR_score=0.350;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.72;phyloP7way_vertebrate=-0.006;phyloP20way_mammalian=0.005;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.930;SiPhy_29way_logOdds=6.887;GDI_full_10282015=.;dpsi_max_tissue=-0.4149;dpsi_zscore=-1.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.162e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=6.459e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-188.054,0,-457.845,.,.,.:827:486:322,.:8689,.:14221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-299.887,.,.,0,.,-403.47:838:426:.,393:.,10738:12869 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228432264 . A T 1549.44 . AB=0.51049;ABP=3.28363;AC=8;AF=0.5;AN=16;AO=146;CIGAR=1X;DP=2707;DPB=286;DPRA=0;EPP=40.193;EPPR=4.37378;GTI=0;LEN=1;MEANALT=3;MQM=28.1986;MQMR=26.5194;NS=1;NUMALT=1;ODDS=300.661;PAIRED=0.972603;PAIREDR=0.976744;PAO=0;PQA=0;PQR=0;PRO=0;QA=3693;QR=3732;RO=129;RPL=92;RPP=24.4871;RPPR=65.6463;RPR=54;RUN=1;SAF=46;SAP=46.3803;SAR=100;SF=0;SRF=35;SRP=61.6064;SRR=94;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.A3473T:p.H1158L,OBSCN:NM_052843:exon11:c.A3473T:p.H1158L,OBSCN:NM_001271223:exon12:c.A3749T:p.H1250L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0401;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0401;1000g2015aug_all=0.0171725;avsnp147=rs41305731;Kaviar_AF=0.031345;Kaviar_AC=4846;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.0064;ExAC_AMR=0.0147;ExAC_EAS=0.0005;ExAC_FIN=0.0422;ExAC_NFE=0.0425;ExAC_OTH=0.0329;ExAC_SAS=0.0323;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.664;SIFT_pred=T;Polyphen2_HDIV_score=0.558;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.108;Polyphen2_HVAR_pred=B;LRT_score=0.085;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.72;MutationAssessor_pred=N;FATHMM_score=3.69;FATHMM_pred=T;PROVEAN_score=-1.87;PROVEAN_pred=N;VEST3_score=0.219;CADD_raw=0.066;CADD_phred=3.252;DANN_score=0.760;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.889;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.39;phyloP7way_vertebrate=1.039;phyloP20way_mammalian=1.059;phastCons7way_vertebrate=0.538;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=9.904;GDI_full_10282015=.;dpsi_max_tissue=-1.0467;dpsi_zscore=-1.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0314;gnomAD_exome_AFR=0.0070;gnomAD_exome_AMR=0.0155;gnomAD_exome_ASJ=0.0400;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0404;gnomAD_exome_NFE=0.0419;gnomAD_exome_OTH=0.0335;gnomAD_exome_SAS=0.0308;gnomAD_genome_ALL=0.0282;gnomAD_genome_AFR=0.0076;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0452;gnomAD_genome_NFE=0.0395;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . 0/1:-173.28,0,-150.218:286:129:146:3693:3732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-141.098,0,-155.987:284:139:133:3599:3974 . . . . . . 0/1:-218.937,0,-255.778:407:210:184:4897:6155 . 0/1:-187.517,0,-194.968:340:171:158:4343:5046 . . . . . . . . . . . . . . . 0/1:-191.485,0,-179.703:345:168:171:4525:4956 . . . . 0/1:-121.429,0,-196.446:301:170:121:3312:5005 . . . . . . . . . . . . . . . . . . . 0/1:-179.37,0,-260.22:384:210:161:4476:6238 . . . . . . 0/1:-192,0,-187.012:360:166:180:4508:5022 . . . . . . . . . . . . . . . . . . . . . chr1 228433171 . C T 2162.49 . AB=0.442254;ABP=33.8574;AC=1;AF=0.5;AN=2;AO=471;CIGAR=1X;DP=1065;DPB=1065;DPRA=0;EPP=39.5288;EPPR=26.6864;GTI=0;LEN=1;MEANALT=3;MQM=14.0807;MQMR=13.4337;NS=1;NUMALT=1;ODDS=497.933;PAIRED=0.974522;PAIREDR=0.964158;PAO=0;PQA=0;PQR=0;PRO=0;QA=12746;QR=17732;RO=558;RPL=287;RPP=51.9214;RPPR=10.5443;RPR=184;RUN=1;SAF=257;SAP=11.5348;SAR=214;SF=0;SRF=281;SRP=3.07256;SRR=277;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.C3539T:p.A1180V,OBSCN:NM_052843:exon12:c.C3539T:p.A1180V,OBSCN:NM_001271223:exon13:c.C3815T:p.A1272V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0005;1000g2015aug_all=0.000798722;avsnp147=rs189620214;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0007;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0009;ExAC_OTH=0.0011;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.349;SIFT_pred=T;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.507;Polyphen2_HVAR_pred=P;LRT_score=0.060;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_pred=T;PROVEAN_score=-1.22;PROVEAN_pred=N;VEST3_score=0.168;CADD_raw=0.182;CADD_phred=4.487;DANN_score=0.633;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.997;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=0.052;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-0.644;phastCons7way_vertebrate=0.171;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=6.447;GDI_full_10282015=.;dpsi_max_tissue=-0.1740;dpsi_zscore=-0.634;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0043;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.97e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-235.194,0,-337.832:1065:558:471:12746:17732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228433217 . A G 6497.96 . AB=0.577657;ABP=41.4578;AC=144;AF=0.5;AN=198;AO=424;CIGAR=1X;DP=94148;DPB=734;DPRA=0;EPP=3.03079;EPPR=3.12768;GTI=0;LEN=1;MEANALT=3;MQM=12.4127;MQMR=17.3682;NS=1;NUMALT=1;ODDS=460.902;PAIRED=0.971698;PAIREDR=0.959459;PAO=0;PQA=0;PQR=0;PRO=0;QA=12360;QR=9052;RO=296;RPL=146;RPP=92.2455;RPPR=18.5334;RPR=278;RUN=1;SAF=233;SAP=12.0444;SAR=191;SF=0,1;SRF=163;SRP=9.61275;SRR=133;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.A3585G:p.T1195T,OBSCN:NM_052843:exon12:c.A3585G:p.T1195T,OBSCN:NM_001271223:exon13:c.A3861G:p.T1287T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6987;esp6500siv2_ea=0.6825;esp6500siv2_all=0.6987;esp6500siv2_ea=0.6825;1000g2015aug_all=0.616613;avsnp147=rs2487384;Kaviar_AF=0.639436;Kaviar_AC=98858;Kaviar_AN=154602;ExAC_ALL=0.6502;ExAC_AFR=0.7041;ExAC_AMR=0.6695;ExAC_EAS=0.5806;ExAC_FIN=0.7014;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5038;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0828;dpsi_zscore=0.428;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6499;gnomAD_exome_AFR=0.7019;gnomAD_exome_AMR=0.6806;gnomAD_exome_ASJ=0.6341;gnomAD_exome_EAS=0.5788;gnomAD_exome_FIN=0.6977;gnomAD_exome_NFE=0.6768;gnomAD_exome_OTH=0.6507;gnomAD_exome_SAS=0.5032;gnomAD_genome_ALL=0.6889;gnomAD_genome_AFR=0.7043;gnomAD_genome_AMR=0.6914;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5509;gnomAD_genome_FIN=0.7152;gnomAD_genome_NFE=0.6913;gnomAD_genome_OTH=0.6724;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-229.96,0,-214.182:734:296:424:12360:9052 1/1:-1137.67,-322.417,0:1141:16:1114:32511:416 1/1:-888.377,-245.757,0:860:12:839:25382:336 0/1:-193.887,0,-154.227:602:244:347:10093:7306 0/1:-220.519,0,-339.727:968:457:489:14231:13551 1/1:-1360.17,-382.639,0:1336:15:1304:38136:493 1/1:-925.356,-252.103,0:905:16:875:25969:468 1/1:-1130.05,-328.318,0:1136:12:1113:32510:375 1/1:-958.622,-247.917,0:881:14:861:25895:433 1/1:-983.411,-267.772,0:968:18:940:28312:471 1/1:-854.628,-237.455,0:840:11:823:24718:350 0/1:-209.572,0,-279.96:820:384:422:12649:11859 1/1:-832.309,-245.849,0:872:9:849:24568:248 1/1:-791.488,-224.17,0:804:17:778:22548:423 . . 1/1:-679.722,-194.109,0:678:9:664:19555:250 . 0/1:-262.51,0,-314.379:925:424:483:14411:12913 . 1/1:-725.299,-206.399,0:703:6:689:20191:170 0/1:-234.197,0,-370.268:970:461:489:14526:13818 0/1:-110.836,0,-181.111:511:247:249:7215:7276 1/1:-1248.37,-335.756,0:1196:19:1150:34437:605 . 1/1:-847.139,-251.815,0:886:13:865:25010:393 . 1/1:-871.809,-243.942,0:866:18:836:25098:532 0/1:-131.913,0,-329.398:780:401:365:10536:11817 1/1:-817.428,-224.077,0:801:12:783:23219:364 1/1:-787.649,-215.506,0:753:9:732:21725:232 0/1:-327.198,0,-278.064:1037:430:579:17235:12771 0/1:-246.326,0,-299.448:914:409:485:14107:12256 1/1:-1115.51,-309.635,0:1097:13:1069:31424:455 0/1:-237.673,0,-322.022:880:400:463:13765:12037 1/1:-1052.97,-300.222,0:1069:13:1030:30164:390 1/1:-1418.82,-396.273,0:1377:9:1340:38875:236 1/1:-869.243,-243.855,0:836:6:815:24896:163 1/1:-923.791,-273.806,0:926:3:911:26791:86 0/1:-128.005,0,-305.455:707:370:325:9946:11053 1/1:-1133.93,-315.545,0:1076:6:1055:31683:143 0/1:-228.503,0,-282.724:847:377:445:13168:11516 . 0/1:-207.367,0,-314.663:925:433:463:13952:13074 0/1:-318.96,0,-337.186:1117:498:603:18037:15034 . 1/1:-941.664,-272.591,0:943:8:912:27182:203 0/1:-116.461,0,-208.401:555:280:266:7939:8411 . . 0/1:-304.344,0,-356.976:1098:486:588:17302:14941 1/1:-851.742,-248.441,0:888:16:859:25290:475 0/1:-315.556,0,-320.936:1087:483:585:17492:14289 . 1/1:-678.331,-198.38,0:695:9:677:19903:235 . . 0/1:-101.552,0,-227.087:558:297:251:7523:8793 0/1:-129.969,0,-312.853:692:365:312:9535:11200 1/1:-1146.64,-310.156,0:1116:16:1083:31332:496 0/1:-148.09,0,-235.346:593:284:292:8788:8584 0/1:-283.302,0,-413.517:1116:540:558:16630:16360 0/1:-178.45,0,-432.327:952:497:437:12902:14956 0/1:-152.867,0,-167.993:616:272:325:9504:7907 1/1:-1197.87,-327.946,0:1153:17:1113:33100:490 1/1:-1084.72,-300.915,0:1045:11:1019:30331:283 0/1:-112.224,0,-153.475:494:227:260:7782:6725 1/1:-972.905,-271.693,0:958:14:928:27542:413 1/1:-826.523,-231.901,0:816:9:794:23608:279 0/1:-209.69,0,-332.518:897:418:459:13411:12565 1/1:-882.665,-251.76,0:902:15:875:26158:413 0/1:-335.016,0,-413.649:1261:561:671:19668:17301 1/1:-1065.14,-298.61,0:1043:15:1008:30226:413 0/1:-67.5336,0,-245.333:622:336:268:6890:9788 1/1:-902.353,-244.588,0:867:8:839:25000:254 0/1:-292.629,0,-391.629:1169:529:616:17973:15610 0/1:-263.516,0,-358.47:1050:490:536:16045:14695 0/1:-267.701,0,-436.488:1130:545:563:16493:16476 1/1:-579.71,-165.286,0:576:7:564:16749:178 1/1:-624.312,-169.09,0:624:9:600:17835:205 0/1:-248.286,0,-343.438:1019:466:528:15613:13763 0/1:-291.876,0,-422.893:1167:550:592:17357:16818 0/1:-298.97,0,-369.864:1154:541:588:17357:16457 . 0/1:-191.195,0,-301.174:901:442:437:12822:13224 1/1:-935.415,-256.596,0:880:6:853:25037:163 1/1:-642.598,-178.389,0:635:10:616:18095:282 1/1:-969.3,-271.639,0:964:13:932:27529:370 1/1:-648.816,-185.151,0:639:6:623:18646:168 0/1:-173.933,0,-358.178:866:452:403:11985:13524 0/1:-221.21,0,-483.271:1112:557:530:15930:16969 0/1:-167.524,0,-314.348:803:382:401:11659:11567 0/1:-265.458,0,-340.076:1032:467:541:15980:14028 0/1:-272.863,0,-338.061:1078:490:569:16648:14751 0/1:-278.517,0,-392.553:1111:516:566:16563:15637 . 0/1:-865.87,0,-769.771:1250:531:706:21717:17059:531,706 . 0/1:-772.379,0,-884.334:1236:583:639:19905:18729:583,639 0/1:-505.414,0,-540.827:778:362:409:12818:11512:362,409 . 1/1:-2301.04,-387.871,0:1322:3:1301:41249:60:3,1301 0/1:-709.55,0,-753.011:1092:503:577:18173:16107:503,577 0/1:-821.231,0,-840.071:1234:577:647:20411:18130:577,647 1/1:-2143.24,-344.605,0:1184:5:1173:36601:132:5,1173 0/1:-704.415,0,-872.235:1152:556:581:18337:17923:556,581 0/1:-760.14,0,-1052.52:1336:678:644:20362:21700:678,644 0/1:-534.799,0,-586.19:853:396:449:13927:12727:396,449 1/1:-1995.66,-323.159,0:1124:6:1108:34368:197:6,1108 0/1:-619.484,0,-749.567:1047:506:525:16370:16046:506,525 0/1:-699.046,0,-918.286:1222:594:611:18879:18812:594,611 0/1:-757.858,0,-686.905:1109:482:607:18703:15334:482,607 0/1:-893.335,0,-766.402:1259:539:710:22187:17268:539,710 0/1:-680.032,0,-616.624:989:431:550:17210:13622:431,550 1/1:-1742.69,-288.159,0:983:3:967:30370:64:3,967 1/1:-2315.47,-374.115,0:1357:15:1326:41232:431:15,1326 chr1 228433346 . C T 367.47 . AB=0.453237;ABP=10.9307;AC=2;AF=0.5;AN=4;AO=189;CIGAR=1X;DP=632;DPB=417;DPRA=0;EPP=3.02179;EPPR=3.09873;GTI=0;LEN=1;MEANALT=3;MQM=12.8307;MQMR=14.6199;NS=1;NUMALT=1;ODDS=99.0803;PAIRED=0.994709;PAIREDR=0.972851;PAO=0;PQA=0;PQR=0;PRO=0;QA=5395;QR=6677;RO=221;RPL=108;RPP=11.386;RPPR=37.2134;RPR=81;RUN=1;SAF=19;SAP=264.977;SAR=170;SF=0;SRF=32;SRP=245.203;SRR=189;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.C3714T:p.C1238C,OBSCN:NM_052843:exon12:c.C3714T:p.C1238C,OBSCN:NM_001271223:exon13:c.C3990T:p.C1330C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0028;1000g2015aug_all=0.0587061;avsnp147=rs75801409;Kaviar_AF=0.0238936;Kaviar_AC=3694;Kaviar_AN=154602;ExAC_ALL=0.0258;ExAC_AFR=0.0278;ExAC_AMR=0.0048;ExAC_EAS=0.2169;ExAC_FIN=0.0047;ExAC_NFE=0.0039;ExAC_OTH=0.0200;ExAC_SAS=0.0365;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0182;dpsi_zscore=0.124;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0251;gnomAD_exome_AFR=0.0287;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0195;gnomAD_exome_EAS=0.2160;gnomAD_exome_FIN=0.0051;gnomAD_exome_NFE=0.0033;gnomAD_exome_OTH=0.0159;gnomAD_exome_SAS=0.0341;gnomAD_genome_ALL=0.0213;gnomAD_genome_AFR=0.0297;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1959;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-81.4206,0,-145.898:417:221:189:5395:6677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-54.1203,0,-63.5612:215:93:114:3066:2837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228434322 . A G 8809.77 . AB=0.462324;ABP=22.3178;AC=1;AF=0.5;AN=2;AO=724;CIGAR=1X;DP=1566;DPB=1566;DPRA=0;EPP=8.30101;EPPR=16.5475;GTI=0;LEN=1;MEANALT=3;MQM=25.7169;MQMR=25.2761;NS=1;NUMALT=1;ODDS=2028.53;PAIRED=0.950276;PAIREDR=0.968193;PAO=0;PQA=0;PQR=0;PRO=0;QA=21689;QR=22001;RO=786;RPL=219;RPP=248.339;RPPR=238.568;RPR=505;RUN=1;SAF=486;SAP=187.477;SAR=238;SF=0;SRF=509;SRP=151.709;SRR=277;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.A3851G:p.Q1284R,OBSCN:NM_052843:exon13:c.A3851G:p.Q1284R,OBSCN:NM_001271223:exon14:c.A4127G:p.Q1376R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762285273;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.656e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.553;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.956;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.185;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.305;CADD_raw=2.410;CADD_phred=18.89;DANN_score=0.996;fathmm-MKL_coding_score=0.518;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.591;MetaSVM_pred=T;MetaLR_score=0.332;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.01;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.979;SiPhy_29way_logOdds=14.713;GDI_full_10282015=.;dpsi_max_tissue=1.9815;dpsi_zscore=1.961;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.124e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-934.306,0,-953.426:1566:786:724:21689:22001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228434395 . T C 13202.59 . AB=0.472789;ABP=8.68272;AC=144;AF=0.5;AN=198;AO=417;CIGAR=1X;DP=107394;DPB=882;DPRA=0;EPP=52.0064;EPPR=60.5543;GTI=0;LEN=1;MEANALT=3;MQM=25.5875;MQMR=30.5094;NS=1;NUMALT=1;ODDS=1050.98;PAIRED=0.935252;PAIREDR=0.924528;PAO=0;PQA=0;PQR=0;PRO=0;QA=11201;QR=11553;RO=424;RPL=272;RPP=86.9999;RPPR=168.944;RPR=145;RUN=1;SAF=226;SAP=9.38933;SAR=191;SF=0,1;SRF=243;SRP=22.697;SRR=181;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3924C:p.A1308A,OBSCN:NM_052843:exon13:c.T3924C:p.A1308A,OBSCN:NM_001271223:exon14:c.T4200C:p.A1400A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6989;esp6500siv2_ea=0.6833;esp6500siv2_all=0.6989;esp6500siv2_ea=0.6833;1000g2015aug_all=0.617612;avsnp147=rs7517088;Kaviar_AF=0.641861;Kaviar_AC=99233;Kaviar_AN=154602;ExAC_ALL=0.6498;ExAC_AFR=0.7052;ExAC_AMR=0.6695;ExAC_EAS=0.5791;ExAC_FIN=0.7016;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5013;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7501;dpsi_zscore=1.882;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6496;gnomAD_exome_AFR=0.7027;gnomAD_exome_AMR=0.6808;gnomAD_exome_ASJ=0.6341;gnomAD_exome_EAS=0.5782;gnomAD_exome_FIN=0.6979;gnomAD_exome_NFE=0.6768;gnomAD_exome_OTH=0.6505;gnomAD_exome_SAS=0.5004;gnomAD_genome_ALL=0.6887;gnomAD_genome_AFR=0.7048;gnomAD_genome_AMR=0.6933;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5508;gnomAD_genome_FIN=0.7148;gnomAD_genome_NFE=0.6906;gnomAD_genome_OTH=0.6714;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-477.618,0,-603.971:882:424:417:11201:11553 1/1:-2256.39,-361.219,0:1251:4:1216:34439:122 1/1:-1883.08,-283.885,0:1033:10:987:28696:330 0/1:-541.583,0,-354.457:708:277:400:11306:7409 0/1:-811.286,0,-552.335:1093:435:607:17274:11870 1/1:-2890.18,-448.324,0:1603:14:1552:43583:347 1/1:-1698.92,-254.649,0:935:10:899:25913:299 1/1:-2295.38,-359.937,0:1319:13:1273:35797:344 1/1:-1964.18,-298.782,0:1112:15:1071:30268:361 1/1:-2276.37,-357.468,0:1299:12:1258:35003:335 1/1:-1822.94,-287.451,0:1039:8:999:28525:222 0/1:-716.848,0,-548.126:1029:422:552:15856:11398 1/1:-1794.38,-280.818,0:983:5:950:27085:123 1/1:-1660.96,-257.242,0:937:9:889:25180:170 . . 1/1:-1637.33,-253.882,0:915:9:884:25681:196 . 0/1:-689.25,0,-552.521:951:407:509:14772:11332 . 1/1:-1564.5,-244.18,0:879:8:849:24246:203 0/1:-773.457,0,-697.47:1151:499:593:16870:13767 0/1:-347.287,0,-334.905:579:261:281:7869:6994 1/1:-2610.58,-416.893,0:1456:8:1409:39988:196 . 1/1:-1569.96,-254.38,0:911:6:875:24779:141 . 1/1:-1798.41,-281.981,0:1040:12:1002:28439:309 0/1:-621.861,0,-498.004:940:408:482:13293:10959 1/1:-1421.45,-216.975,0:797:7:771:21990:208 1/1:-1743.41,-268.976,0:999:11:956:27002:264 0/1:-887.115,0,-736.78:1246:547:654:19148:15028 0/1:-723.53,0,-709.921:1103:492:559:15625:13776 1/1:-2436.44,-393.304,0:1364:5:1323:37038:136 0/1:-647.826,0,-671.235:1007:469:485:14123:13081 1/1:-2445.18,-376.171,0:1337:8:1291:37035:213 1/1:-2849.01,-439.207,0:1616:13:1557:42847:413 1/1:-1660.49,-251.749,0:905:7:871:25389:180 1/1:-2028.48,-316.101,0:1122:10:1081:31109:253 0/1:-488.073,0,-591.159:814:389:393:10918:10916 1/1:-2499.24,-401.17,0:1368:3:1338:38328:64 0/1:-778.569,0,-606.18:1111:452:605:16838:12560 . 0/1:-675.55,0,-614.044:1009:444:521:15136:12321 0/1:-870.297,0,-713.312:1192:511:620:17886:14220 . 1/1:-2217.86,-358.496,0:1238:4:1197:33749:78 0/1:-395.687,0,-424.975:667:306:324:9049:8397 . . 0/1:-840.946,0,-727.875:1247:542:647:18351:15148 1/1:-1864.62,-295.357,0:1061:11:1019:28927:268 0/1:-717.293,0,-796.102:1202:552:590:16754:15421 . 1/1:-1521.17,-255.116,0:909:4:870:24086:118 . . 0/1:-370.272,0,-379.436:624:278:316:8573:7439 0/1:-524.436,0,-509.054:811:361:402:11434:10125 1/1:-2710.43,-415.433,0:1497:15:1441:40737:322 0/1:-577.905,0,-352.114:780:295:451:12338:7874 0/1:-913.914,0,-863.266:1455:654:719:20298:17449 0/1:-691.371,0,-652.818:1064:478:534:15332:12929 0/1:-547.218,0,-448.179:791:335:416:11960:9333 1/1:-2379.88,-365.495,0:1375:22:1318:37352:573 1/1:-2418.91,-367.7,0:1284:7:1250:36136:138 0/1:-437.317,0,-304.784:624:255:341:9396:6942 1/1:-2118.07,-322.244,0:1175:11:1132:32315:317 1/1:-2117.87,-323.414,0:1176:11:1140:32591:269 0/1:-855.749,0,-705.737:1208:520:642:18119:14162 1/1:-2083.44,-310.206,0:1121:12:1081:30957:279 0/1:-1030.87,0,-786.392:1401:570:763:21690:15829 1/1:-2298.02,-358.366,0:1281:10:1240:35115:263 0/1:-502.37,0,-398.464:843:334:459:12452:9038 1/1:-1803.94,-291.397,0:991:0:968:27502:0 0/1:-982.226,0,-871.959:1483:644:771:21630:17720 0/1:-792.958,0,-833.421:1302:599:653:18296:16267 0/1:-841.383,0,-705.355:1216:508:643:17984:14163 1/1:-1389.22,-217.389,0:773:5:747:21429:136 1/1:-1173.88,-181.305,0:655:6:629:18122:142 0/1:-760,0,-587.634:1149:469:622:17343:12508 0/1:-836.538,0,-725.726:1237:541:642:18025:14683 0/1:-791.124,0,-754.558:1273:564:634:17691:15444 . 0/1:-578.858,0,-584.791:923:424:465:13144:11573 1/1:-2051.85,-326.185,0:1136:4:1093:30535:114 1/1:-1349.68,-209.92,0:749:7:725:20839:127 1/1:-2225.26,-351.392,0:1315:16:1255:35164:439 1/1:-1157.18,-183.25,0:639:4:616:17922:121 0/1:-683.648,0,-523.311:923:377:508:14402:10559 0/1:-833.27,0,-940.406:1404:675:658:18607:18307 0/1:-583.767,0,-642.541:963:443:473:13343:12239 0/1:-820.001,0,-783.402:1297:570:664:18590:15594 0/1:-844.606,0,-724.459:1256:539:663:18528:14411 0/1:-830.05,0,-716.589:1260:550:652:18430:14951 . 0/1:-1239.81,0,-784.622:1173:468:673:20735:14016:468,673 . 0/1:-1078.03,0,-846.8:1109:480:611:18969:14468:480,611 0/1:-790.32,0,-638.173:852:367:461:13949:10919:367,461 . 1/1:-2878.46,-362.518,0:1274:8:1245:38786:165:8,1245 0/1:-971.178,0,-707.809:1034:438:567:17204:12726:438,567 0/1:-1121.63,0,-897.804:1201:545:638:19759:16028:545,638 1/1:-2760.32,-342.154,0:1215:8:1192:36969:236:8,1192 0/1:-1141.26,0,-664.35:1070:428:623:19146:12545:428,623 0/1:-1150.12,0,-943.661:1245:547:658:20264:16321:547,658 0/1:-799.258,0,-591.549:803:345:438:13725:10236:345,438 1/1:-2431.84,-308.531,0:1083:4:1062:32647:144:4,1062 0/1:-876.078,0,-613.615:907:377:506:15455:11227:377,506 0/1:-1015,0,-828.29:1087:473:587:17928:14334:473,587 0/1:-1017.68,0,-846.352:1098:491:583:18000:14534:491,583 0/1:-1107.92,0,-824.588:1136:488:624:19269:14577:488,624 0/1:-1030.74,0,-678.698:1011:412:577:18197:12052:412,577 1/1:-2325.43,-293.976,0:1029:4:1003:31121:109:4,1003 1/1:-2755.98,-357.402,0:1254:7:1229:37883:199:7,1229 chr1 228434420 . G T 4608.21 . AB=0.40302;ABP=73.3473;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=861;DPB=861;DPRA=0;EPP=34.5561;EPPR=78.1789;GTI=0;LEN=1;MEANALT=2;MQM=33.0836;MQMR=31.8963;NS=1;NUMALT=1;ODDS=1061.08;PAIRED=0.974063;PAIREDR=0.945205;PAO=0;PQA=0;PQR=0;PRO=0;QA=9835;QR=16325;RO=511;RPL=270;RPP=236.109;RPPR=329.067;RPR=77;RUN=1;SAF=144;SAP=24.7939;SAR=203;SF=1;SRF=239;SRP=7.63796;SRR=272;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.G3949T:p.V1317L,OBSCN:NM_052843:exon13:c.G3949T:p.V1317L,OBSCN:NM_001271223:exon14:c.G4225T:p.V1409L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs758488556;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.657e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.128;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.08;MutationAssessor_pred=L;FATHMM_score=-0.2;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_pred=N;VEST3_score=0.427;CADD_raw=1.831;CADD_phred=15.17;DANN_score=0.601;fathmm-MKL_coding_score=0.330;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.552;MetaSVM_pred=T;MetaLR_score=0.315;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.94;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.934;SiPhy_29way_logOdds=14.828;GDI_full_10282015=.;dpsi_max_tissue=0.7766;dpsi_zscore=1.370;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.123e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-505.294,0,-937.634:861:511:347:9835:16325:511,347 . . . . . . chr1 228434467 . T C,G 6542.66 . AB=0.5;ABP=3.0103;AC=144,0;AF=0.5;AN=202;AO=210;CIGAR=1X;DP=49696;DPB=420;DPRA=0;EPP=10.0004;EPPR=3.58545;GTI=0;LEN=1;MEANALT=3;MQM=30.0143;MQMR=34.2378;NS=1;NUMALT=1;ODDS=565.733;PAIRED=0.985714;PAIREDR=0.962162;PAO=0;PQA=0;PQR=0;PRO=0;QA=5899;QR=4947;RO=185;RPL=137;RPP=45.3644;RPPR=65.5604;RPR=73;RUN=1;SAF=53;SAP=114.851;SAR=157;SF=0,1;SRF=44;SRP=113.45;SRR=141;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3996C:p.A1332A,OBSCN:NM_052843:exon13:c.T3996C:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272C:p.A1424A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7295;esp6500siv2_ea=0.6824;esp6500siv2_all=0.7295;esp6500siv2_ea=0.6824;1000g2015aug_all=0.66254;avsnp147=rs7517108;Kaviar_AF=0.658174;Kaviar_AC=101755;Kaviar_AN=154602;ExAC_ALL=0.6689;ExAC_AFR=0.8216;ExAC_AMR=0.7404;ExAC_EAS=0.5954;ExAC_FIN=0.7009;ExAC_NFE=0.6802;ExAC_OTH=0.6258;ExAC_SAS=0.5101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9149;dpsi_zscore=1.469;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6681;gnomAD_exome_AFR=0.8207;gnomAD_exome_AMR=0.7421;gnomAD_exome_ASJ=0.6363;gnomAD_exome_EAS=0.5940;gnomAD_exome_FIN=0.6974;gnomAD_exome_NFE=0.6773;gnomAD_exome_OTH=0.6632;gnomAD_exome_SAS=0.5094;gnomAD_genome_ALL=0.7236;gnomAD_genome_AFR=0.8169;gnomAD_genome_AMR=0.7404;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.5741;gnomAD_genome_FIN=0.7149;gnomAD_genome_NFE=0.6917;gnomAD_genome_OTH=0.6782;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3996G:p.A1332A,OBSCN:NM_052843:exon13:c.T3996G:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272G:p.A1424A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5831;dpsi_zscore=-1.170;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-306.668,0,-270.427,.,.,.:420:185:210,.:5899,.:4947 1/1:-1196.48,-173.602,0,.,.,.:614:3:587,.:16503,.:82 1/1:-981.73,-139.024,0,.,.,.:502:7:476,.:13638,.:124 0/1:-304.625,0,-163.954,.,.,.:325:121:189,.:5377,.:3318 0/1:-357.031,0,-256.183,.,.,.:465:192:256,.:7073,.:5129 1/1:-1488.84,-203.85,0,.,.,.:769:15:735,.:20819,.:337 1/1:-881.028,-125.469,0,.,.,.:453:3:431,.:12228,.:73 1/1:-1233.29,-174.72,0,.,.,.:661:16:626,.:17211,.:340 1/1:-1020.67,-142.875,0,.,.,.:543:9:521,.:14376,.:236 1/1:-1202.67,-170.421,0,.,.,.:630:9:596,.:16677,.:179 1/1:-910.817,-125.396,0,.,.,.:477:9:455,.:12765,.:197 0/1:-348.776,0,-282.932,.,.,.:458:205:234,.:6776,.:5657 1/1:-919.551,-128.129,0,.,.,.:464:8:448,.:12607,.:199 1/1:-901.39,-121.259,0,.,.,.:478:12:444,.:12591,.:298 . . 1/1:-786.498,-111.161,0,.,.,.:419:6:397,.:10896,.:139 . 0/1:-347.028,0,-262.827,.,.,.:406:178:210,.:6040,.:5044 . 1/1:-751.145,-103.09,0,.,.,.:390:6:370,.:10332,.:132 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0/1:-370.733,0,-274.852,.,.,.:480:201:261,.:7461,.:5456 . 0/1:-340.146,0,-259.728,.,.,.:424:174:229,.:6559,.:4839 0/1:-472.731,0,-333.985,.,.,.:564:228:307,.:8549,.:6428 . 1/1:-1127.9,-162.169,0,.,.,.:582:6:560,.:15726,.:134 0/1:-244.714,0,-172.689,.,.,.:305:121:168,.:4796,.:3265 . . 0/1:-490.838,0,-301.7,.,.,.:571:230:314,.:8868,.:6110 1/1:-976.77,-138.594,0,.,.,.:535:10:509,.:13840,.:251 0/1:-355.537,0,-388.482,.,.,.:532:255:251,.:7181,.:6927 . 1/1:-812.061,-116.6,0,.,.,.:421:7:406,.:11357,.:123 . . 0/1:-198.838,0,-199.621,.,.,.:309:142:153,.:4185,.:3754 0/1:-264.313,0,-177.515,.,.,.:325:134:176,.:5004,.:3541 1/1:-1396.54,-194.928,0,.,.,.:703:7:669,.:18918,.:142 0/1:-331.764,0,-162.575,.,.,.:349:131:205,.:6030,.:3569 0/1:-524.19,0,-402.767,.,.,.:661:287:339,.:9769,.:7691 0/1:-325.661,0,-325.711,.,.,.:473:213:239,.:6699,.:5938 0/1:-283.453,0,-232.19,.,.,.:384:169:194,.:5453,.:4503 1/1:-1222.04,-175.871,0,.,.,.:628:9:603,.:17186,.:195 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0/1:-499.436,0,-257.676,.,.,.:407:156:244,.:7755,.:4484:156,244 0/1:-492.405,0,-344.095,.,.,.:458:200:245,.:7559,.:5771:200,245 1/1:-1217.67,-142.096,0,.,.,.:503:2:489,.:14733,.:64:2,489 0/1:-581.238,0,-202.47,.,.,.:423:147:267,.:8386,.:3962:147,267 0/1:-531.15,0,-378.576,.,.,.:483:213:256,.:7983,.:6129:213,256 0/1:-408.566,0,-221.23,.,.,.:332:128:197,.:6038,.:3683:128,197 1/1:-1181.52,-129.771,0,.,.,.:473:5:464,.:14311,.:136:5,464 0/1:-431.357,0,-186.394,.,.,.:338:118:212,.:6580,.:3403:118,212 0/1:-505.31,0,-291.619,.,.,.:428:168:249,.:7682,.:4806:168,249 0/1:-540.566,0,-331.483,.,.,.:474:197:267,.:8274,.:5612:197,267 0/1:-514.183,0,-334.548,.,.,.:464:199:259,.:7908,.:5585:199,259 0/1:-427.824,0,-266.414,.,.,.:373:157:209,.:6488,.:4373:157,209 1/1:-1041.85,-115.398,0,.,.,.:422:5:409,.:12655,.:149:5,409 1/1:-1189.58,-140.737,0,.,.,.:482:1:477,.:14607,.:36:1,477 chr1 228437772 . G A 6048.18 . AB=0.452668;ABP=36.9279;AC=1;AF=0.5;AN=2;AO=789;CIGAR=1X;DP=1743;DPB=1743;DPRA=0;EPP=4.00384;EPPR=8.76096;GTI=0;LEN=1;MEANALT=3;MQM=19.9214;MQMR=20.8966;NS=1;NUMALT=1;ODDS=1392.65;PAIRED=0.961977;PAIREDR=0.936782;PAO=0;PQA=0;PQR=0;PRO=0;QA=19770;QR=26537;RO=870;RPL=254;RPP=220.325;RPPR=187.67;RPR=535;RUN=1;SAF=447;SAP=33.3531;SAR=342;SF=0;SRF=492;SRP=35.4476;SRR=378;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon14:c.G4140A:p.E1380E,OBSCN:NM_052843:exon14:c.G4140A:p.E1380E,OBSCN:NM_001271223:exon15:c.G4416A:p.E1472E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0193;esp6500siv2_ea=0.0025;esp6500siv2_all=0.0193;esp6500siv2_ea=0.0025;1000g2015aug_all=0.0611022;avsnp147=rs12080655;Kaviar_AF=0.0238613;Kaviar_AC=3689;Kaviar_AN=154602;ExAC_ALL=0.0256;ExAC_AFR=0.0545;ExAC_AMR=0.0059;ExAC_EAS=0.1934;ExAC_FIN=0.0047;ExAC_NFE=0.0028;ExAC_OTH=0.0167;ExAC_SAS=0.0357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5971;dpsi_zscore=1.225;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0245;gnomAD_exome_AFR=0.0551;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0073;gnomAD_exome_EAS=0.1948;gnomAD_exome_FIN=0.0051;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0155;gnomAD_exome_SAS=0.0333;gnomAD_genome_ALL=0.0259;gnomAD_genome_AFR=0.0523;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.1681;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-639.35,0,-971.412:1743:870:789:19770:26537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228444385 . T C 1943.97 . AB=0.412998;ABP=34.3715;AC=2;AF=0.5;AN=4;AO=197;CIGAR=1X;DP=858;DPB=477;DPRA=0;EPP=3.1095;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=24.264;MQMR=27.1328;NS=1;NUMALT=1;ODDS=398.782;PAIRED=0.979695;PAIREDR=0.972656;PAO=0;PQA=0;PQR=0;PRO=0;QA=5563;QR=7210;RO=256;RPL=52;RPP=98.3457;RPPR=91.2603;RPR=145;RUN=1;SAF=143;SAP=90.3211;SAR=54;SF=0;SRF=219;SRP=283.978;SRR=37;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.T4343C:p.V1448A,OBSCN:NM_052843:exon15:c.T4343C:p.V1448A,OBSCN:NM_001271223:exon16:c.T4619C:p.V1540A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0153;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0153;esp6500siv2_ea=0.0015;1000g2015aug_all=0.0157748;avsnp147=rs112216954;Kaviar_AF=0.0052651;Kaviar_AC=814;Kaviar_AN=154602;ExAC_ALL=0.0053;ExAC_AFR=0.0449;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0011;ExAC_SAS=0.0043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.151;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.215;MutationAssessor_pred=N;FATHMM_score=0.36;FATHMM_pred=T;PROVEAN_score=-0.2;PROVEAN_pred=N;VEST3_score=0.023;CADD_raw=-3.108;CADD_phred=0.001;DANN_score=0.232;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.080;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=-0.92;phyloP7way_vertebrate=-0.410;phyloP20way_mammalian=-2.033;phastCons7way_vertebrate=0.010;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.962;GDI_full_10282015=.;dpsi_max_tissue=0.4921;dpsi_zscore=1.125;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0046;gnomAD_exome_AFR=0.0426;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0047;gnomAD_genome_ALL=0.0122;gnomAD_genome_AFR=0.0403;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-200.907,0,-340.33:477:256:197:5563:7210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-241.192,0,-198.112:381:162:200:5554:4611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228444565 . T A 17699.23 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=846;CIGAR=1X;DP=138467;DPB=964;DPRA=0;EPP=8.44155;EPPR=33.4109;GTI=0;LEN=1;MEANALT=3;MQM=24.5473;MQMR=20.2143;NS=1;NUMALT=1;ODDS=1110.31;PAIRED=0.934988;PAIREDR=0.857143;PAO=0;PQA=0;PQR=0;PRO=0;QA=22909;QR=196;RO=14;RPL=539;RPP=141.163;RPPR=3.63072;RPR=307;RUN=1;SAF=315;SAP=122.765;SAR=531;SF=0,1;SRF=8;SRP=3.63072;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs7532342;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=-4.01;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_pred=T;PROVEAN_score=5.76;PROVEAN_pred=N;VEST3_score=0.295;CADD_raw=0.030;CADD_phred=2.884;DANN_score=0.239;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.939;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.6;phyloP7way_vertebrate=0.127;phyloP20way_mammalian=0.200;phastCons7way_vertebrate=0.551;phastCons20way_mammalian=0.008;SiPhy_29way_logOdds=10.586;GDI_full_10282015=.;dpsi_max_tissue=0.5351;dpsi_zscore=1.167;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1345.42,-246.423,0:964:14:846:22909:196 1/1:-1761.59,-323.057,0:1322:23:1138:30315:353 1/1:-1530.37,-276.63,0:1108:17:957:25595:288 1/1:-993.297,-180.341,0:726:14:635:16555:214 1/1:-1611.13,-299.775,0:1194:18:1031:27563:292 1/1:-2169.19,-387.461,0:1524:20:1335:36439:326 1/1:-1429.29,-254.653,0:1026:19:891:23594:312 1/1:-1746.84,-327.986,0:1297:13:1129:30050:230 1/1:-1377.8,-250.596,0:1018:20:881:23736:287 1/1:-1689.09,-305.364,0:1216:19:1059:29098:266 1/1:-1335.45,-251.963,0:993:16:872:22738:231 1/1:-1568.88,-292.077,0:1131:13:1002:26605:220 1/1:-1436.43,-269.313,0:1034:10:913:24295:140 1/1:-1329.28,-242.279,0:1013:28:863:23094:505 1/1:-1142.89,-199.727,0:845:23:715:19379:380 1/1:-2162.41,-398.237,0:1589:15:1361:36439:217 1/1:-1216.35,-231.432,0:921:13:796:21359:213 1/1:-3637.78,-648.119,0:2535:26:2224:59546:407 1/1:-1550.83,-277.438,0:1103:18:965:25403:315 1/1:-1206.53,-222.364,0:892:13:759:20510:240 1/1:-1194.85,-221.925,0:848:7:750:20216:123 1/1:-1642.05,-302.388,0:1203:25:1054:28758:423 1/1:-947.599,-179.531,0:717:10:623:16561:154 1/1:-2133.41,-393.969,0:1508:21:1355:36403:330 1/1:-1946.35,-350.986,0:1402:15:1203:32130:243 1/1:-1361.56,-261.45,0:1026:15:898:24068:228 1/1:-1761.74,-313.706,0:1228:15:1078:28768:217 1/1:-1576.94,-292.492,0:1148:15:1014:27213:241 1/1:-1292.21,-247.91,0:968:14:850:21962:243 1/1:-1262.78,-237.073,0:919:10:806:21332:166 1/1:-1284.58,-235.725,0:965:18:826:21828:265 1/1:-1747.09,-330.674,0:1319:17:1139:30212:271 1/1:-1791.16,-307.128,0:1256:23:1093:29244:392 1/1:-1703.36,-306.497,0:1238:19:1065:28495:337 1/1:-1473.46,-269.35,0:1078:15:932:25190:223 1/1:-1886.15,-342.449,0:1363:21:1202:32560:343 1/1:-2468.04,-422.975,0:1716:25:1484:40315:413 1/1:-1397.79,-261.397,0:1038:15:902:24107:236 1/1:-1439.16,-269.097,0:1103:16:935:24807:273 1/1:-1260.1,-218.263,0:913:17:771:20714:271 1/1:-1752.76,-314.686,0:1271:21:1098:29881:356 1/1:-1470.43,-275.326,0:1079:13:937:25085:220 1/1:-1588.74,-278.369,0:1139:17:968:26133:265 1/1:-1340.25,-254.314,0:1001:12:876:23024:199 1/1:-1798.83,-336.247,0:1310:13:1147:30999:213 1/1:-1573.72,-281.914,0:1135:18:981:26424:290 1/1:-1692.12,-322.755,0:1270:16:1105:29561:237 1/1:-1064.21,-189.357,0:760:14:671:17714:247 1/1:-1333.96,-225.996,0:917:15:799:21851:265 1/1:-1896.67,-349.574,0:1397:17:1201:32245:256 1/1:-1972.37,-349.531,0:1416:21:1220:32691:361 1/1:-1449.3,-275.144,0:1125:20:964:25602:319 1/1:-1829.08,-332.328,0:1359:26:1174:31690:420 1/1:-2094.09,-373.775,0:1472:21:1291:34113:366 1/1:-1113.98,-208.33,0:852:14:725:19568:203 1/1:-1260.24,-225.032,0:901:16:780:20733:271 1/1:-1910.87,-344.126,0:1320:13:1167:31002:196 1/1:-1023.14,-188.09,0:752:7:645:17317:105 1/1:-1089.34,-206.008,0:839:14:715:19047:229 1/1:-1976.01,-361.499,0:1436:17:1246:33094:256 1/1:-1015.77,-183.263,0:780:19:660:17891:336 1/1:-2065.69,-383.845,0:1551:18:1314:34576:285 1/1:-1699.69,-306.12,0:1205:16:1058:28458:273 1/1:-982.673,-184.342,0:767:19:655:16980:266 1/1:-1927.46,-356.189,0:1428:23:1238:33618:384 1/1:-1740.06,-315.954,0:1273:13:1082:28924:244 1/1:-1036.11,-190.988,0:779:14:667:18026:214 1/1:-1633.74,-290.091,0:1116:13:999:27103:189 1/1:-1624.15,-304.921,0:1192:12:1037:27667:204 1/1:-1817.1,-334.01,0:1312:16:1138:30297:231 1/1:-1472.97,-293.311,0:1180:13:1004:26814:288 1/1:-2180.04,-402.781,0:1580:21:1380:37082:346 1/1:-1822.33,-321.344,0:1306:19:1125:30550:280 1/1:-1077.76,-206.289,0:878:23:740:19361:369 1/1:-1356.13,-253.91,0:1005:15:872:23231:210 1/1:-2023.25,-365.276,0:1490:25:1270:34057:409 1/1:-1890.74,-344.395,0:1353:16:1183:32143:257 1/1:-1814.82,-331.556,0:1340:24:1162:30716:381 1/1:-1162.07,-203.885,0:822:10:709:18636:167 1/1:-1026.35,-188.718,0:729:6:639:17190:84 1/1:-1743.89,-319.04,0:1262:16:1096:29619:266 1/1:-1884.56,-351.763,0:1389:16:1208:32026:277 1/1:-1959.65,-350.686,0:1384:15:1210:32625:224 1/1:-1628.64,-290.095,0:1135:15:998:26948:210 1/1:-1332.88,-248.623,0:1000:11:855:22795:185 1/1:-1589.27,-287.711,0:1126:13:985:26250:195 1/1:-1101.1,-208.401,0:823:11:716:19106:161 1/1:-1666.65,-306.238,0:1237:19:1069:28957:279 1/1:-1008.27,-182.48,0:721:10:629:16910:154 1/1:-1460.98,-274.502,0:1064:9:930:24635:126 1/1:-2112.71,-395.946,0:1556:17:1355:36268:346 1/1:-1817.82,-323.979,0:1275:14:1112:30696:231 1/1:-1989.06,-355.569,0:1406:23:1235:33891:396 1/1:-1928.34,-336.193,0:1364:25:1170:31827:350 1/1:-1702.12,-309.922,0:1248:15:1071:28614:236 . 1/1:-3314.86,-478.659,0:1650:3:1596:48808:42:3,1596 1/1:-2889.96,-419.533,0:1454:3:1399:42519:42:3,1399 1/1:-2826.07,-418.876,0:1473:5:1407:42522:70:5,1407 1/1:-1922.48,-263.778,0:924:2:882:26774:28:2,882 1/1:-2639.46,-367.11,0:1274:4:1232:38122:56:4,1232 1/1:-2993.11,-430.944,0:1503:3:1436:43241:42:3,1436 1/1:-2859.05,-405.901,0:1440:11:1381:41843:179:11,1381 1/1:-2854.42,-412.784,0:1449:7:1390:42074:120:7,1390 1/1:-2634.34,-386.045,0:1341:5:1288:39219:70:5,1288 1/1:-2870.61,-412.261,0:1461:11:1404:42700:176:11,1404 1/1:-3108.51,-438.955,0:1542:6:1473:45260:84:6,1473 1/1:-2377.81,-339.951,0:1196:3:1142:34693:60:3,1142 1/1:-2873.38,-418.08,0:1457:3:1398:43065:42:3,1398 1/1:-2671.22,-383.101,0:1337:2:1279:38652:28:2,1279 1/1:-3143.63,-462.617,0:1598:2:1543:46965:28:2,1543 1/1:-2773.18,-398.414,0:1393:4:1336:40817:56:4,1336 1/1:-2872.1,-419.506,0:1458:3:1403:42376:42:3,1403 1/1:-2619.62,-373.312,0:1307:6:1259:38301:84:6,1259 1/1:-2596.53,-374.742,0:1307:4:1254:38294:56:4,1254 1/1:-3269.99,-476.421,0:1669:9:1611:48918:148:9,1611 chr1 228447315 . TGGTACAAGGACG TG 3720.08 . AB=0.388094;ABP=193.037;AC=1;AF=0.5;AN=2;AO=678;CIGAR=1M11D1M;DP=1747;DPB=1170.54;DPRA=0;EPP=8.65997;EPPR=4.48526;GTI=0;LEN=11;MEANALT=95;MQM=22.0059;MQMR=32.5625;NS=1;NUMALT=1;ODDS=856.58;PAIRED=0.974926;PAIREDR=0.965802;PAO=1.5;PQA=32.5;PQR=178.5;PRO=7.5;QA=12801;QR=26674;RO=848;RPL=233;RPP=146.955;RPPR=271.822;RPR=445;RUN=1;SAF=357;SAP=7.16108;SAR=321;SF=1;SRF=488;SRP=44.9648;SRR=360;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001271223:exon17:c.4977_4987del:p.W1659fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-399.953,0,-1657.07:1747:848:678:12801:26674:848,678 . . . . . . chr1 228447457 . C G 3218.22 . AB=0.395062;ABP=64.9911;AC=1;AF=0.5;AN=2;AO=256;CIGAR=1X;DP=648;DPB=648;DPRA=0;EPP=3.55317;EPPR=4.47319;GTI=0;LEN=1;MEANALT=3;MQM=29.9492;MQMR=31.1237;NS=1;NUMALT=1;ODDS=741.023;PAIRED=0.890625;PAIREDR=0.923684;PAO=0;PQA=0;PQR=0;PRO=0;QA=7902;QR=11479;RO=380;RPL=191;RPP=137.676;RPPR=188.157;RPR=65;RUN=1;SAF=75;SAP=98.3176;SAR=181;SF=0;SRF=106;SRP=164.294;SRR=274;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon17:c.C5117G:p.S1706C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.19;FATHMM_pred=T;PROVEAN_score=-2.4;PROVEAN_pred=N;VEST3_score=0.129;CADD_raw=2.368;CADD_phred=18.61;DANN_score=0.977;fathmm-MKL_coding_score=0.574;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.172;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_pred=T;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=4.32;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-0.007;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.180;SiPhy_29way_logOdds=14.276;GDI_full_10282015=.;dpsi_max_tissue=1.2137;dpsi_zscore=1.642;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-358.353,0,-623.725:648:380:256:7902:11479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228447463 . G A 3489.84 . AB=0.50234;ABP=3.04079;AC=6;AF=0.5;AN=12;AO=322;CIGAR=1X;DP=3425;DPB=641;DPRA=0;EPP=4.73669;EPPR=10.4223;GTI=0;LEN=1;MEANALT=3;MQM=28.6832;MQMR=30.2933;NS=1;NUMALT=1;ODDS=962.396;PAIRED=0.906832;PAIREDR=0.953333;PAO=0;PQA=0;PQR=0;PRO=0;QA=9361;QR=9375;RO=300;RPL=249;RPP=211.903;RPPR=110.744;RPR=73;RUN=1;SAF=96;SAP=116.979;SAR=226;SF=0;SRF=77;SRP=157.301;SRR=223;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0080;esp6500siv2_ea=0.0110;esp6500siv2_all=0.0080;esp6500siv2_ea=0.0110;1000g2015aug_all=0.00239617;avsnp147=rs147633098;Kaviar_AF=0.0078783;Kaviar_AC=1218;Kaviar_AN=154602;ExAC_ALL=0.0084;ExAC_AFR=0.0018;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0.0036;ExAC_NFE=0.0133;ExAC_OTH=0.0056;ExAC_SAS=0.0024;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.56;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.106;CADD_raw=0.355;CADD_phred=6.217;DANN_score=0.813;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.972;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=-2.54;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=-0.473;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.061;SiPhy_29way_logOdds=12.965;GDI_full_10282015=.;dpsi_max_tissue=0.6472;dpsi_zscore=1.268;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0083;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0275;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0052;gnomAD_exome_NFE=0.0120;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0063;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0103;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-459.548,0,-470.761:641:300:322:9361:9375 . . . 0/1:-544.494,0,-696.952:837:418:395:11424:12992 . . . . 0/1:-412.913,0,-370.847:527:240:278:8289:7591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-226.161,0,-296.308:374:184:178:4918:5593 . . . . . . . . . . . . . . . . 0/1:-418.636,0,-607.81:691:364:310:9038:11293 . . . . . . . 0/1:-259.98,0,-288.623:355:173:177:5210:5399 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228447490 . G A 3059.50 . AB=0.475177;ABP=6.0288;AC=2;AF=0.5;AN=4;AO=268;CIGAR=1X;DP=997;DPB=564;DPRA=0;EPP=57.4916;EPPR=20.6268;GTI=0;LEN=1;MEANALT=3;MQM=30.8843;MQMR=32.8451;NS=1;NUMALT=1;ODDS=777.702;PAIRED=0.921642;PAIREDR=0.947183;PAO=0;PQA=0;PQR=0;PRO=0;QA=7963;QR=8474;RO=284;RPL=223;RPP=259.73;RPPR=245.267;RPR=45;RUN=1;SAF=48;SAP=242.715;SAR=220;SF=0;SRF=65;SRP=184.344;SRR=219;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0013;1000g2015aug_all=0.0153754;avsnp147=rs111441834;Kaviar_AF=0.0051358;Kaviar_AC=794;Kaviar_AN=154602;ExAC_ALL=0.0052;ExAC_AFR=0.0437;ExAC_AMR=0.0018;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0016;ExAC_OTH=0.0011;ExAC_SAS=0.0043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2956;dpsi_zscore=-1.626;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0413;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0039;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0119;gnomAD_genome_AFR=0.0393;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-404.504,0,-474.676:564:284:268:7963:8474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-319.814,0,-357.188:433:213:205:5874:6557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228451826 . C T 3541.20 . AB=0.401929;ABP=54.972;AC=52;AF=0.5;AN=92;AO=250;CIGAR=1X;DP=34647;DPB=622;DPRA=0;EPP=3.14927;EPPR=7.11051;GTI=0;LEN=1;MEANALT=3;MQM=22.704;MQMR=22.423;NS=1;NUMALT=1;ODDS=386.476;PAIRED=0.928;PAIREDR=0.930514;PAO=0;PQA=0;PQR=0;PRO=0;QA=6455;QR=10014;RO=331;RPL=57;RPP=163.665;RPPR=222.71;RPR=193;RUN=1;SAF=174;SAP=86.4296;SAR=76;SF=0,1;SRF=240;SRP=148.656;SRR=91;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4595T:p.A1532V,OBSCN:NM_052843:exon16:c.C4595T:p.A1532V,OBSCN:NM_001271223:exon18:c.C5147T:p.A1716V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2679;esp6500siv2_ea=0.2810;esp6500siv2_all=0.2679;esp6500siv2_ea=0.2810;1000g2015aug_all=0.30631;avsnp147=rs453140;Kaviar_AF=0.279912;Kaviar_AC=43275;Kaviar_AN=154602;ExAC_ALL=0.2944;ExAC_AFR=0.2505;ExAC_AMR=0.2738;ExAC_EAS=0.4042;ExAC_FIN=0.3589;ExAC_NFE=0.2922;ExAC_OTH=0.2897;ExAC_SAS=0.2611;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.448;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.628;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.96;MutationAssessor_pred=N;FATHMM_score=3.72;FATHMM_pred=T;PROVEAN_score=0.88;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=0.352;CADD_phred=6.186;DANN_score=0.718;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-1.6;phyloP7way_vertebrate=-0.379;phyloP20way_mammalian=-0.767;phastCons7way_vertebrate=0.089;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=6.177;GDI_full_10282015=.;dpsi_max_tissue=-0.2980;dpsi_zscore=-0.850;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2933;gnomAD_exome_AFR=0.2485;gnomAD_exome_AMR=0.2811;gnomAD_exome_ASJ=0.2382;gnomAD_exome_EAS=0.4012;gnomAD_exome_FIN=0.3522;gnomAD_exome_NFE=0.2892;gnomAD_exome_OTH=0.2858;gnomAD_exome_SAS=0.2600;gnomAD_genome_ALL=0.2987;gnomAD_genome_AFR=0.2592;gnomAD_genome_AMR=0.2780;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.3870;gnomAD_genome_FIN=0.3499;gnomAD_genome_NFE=0.3003;gnomAD_genome_OTH=0.3279;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-203.115,0,-394.648:622:331:250:6455:10014 0/1:-166.296,0,-285.472:496:246:213:5316:7210 0/1:-348.061,0,-419.401:846:390:393:10295:11789 . . . 0/1:-282.961,0,-440.176:735:355:328:8348:10487 0/1:-280.343,0,-423.765:754:374:330:8719:11127 . . 0/1:-210.037,0,-424.62:678:356:275:7002:10589 0/1:-227.993,0,-354.289:660:321:289:7629:9676 . . . . 0/1:-178.912,0,-451.152:656:367:248:6445:11159 . 0/1:-194.717,0,-316.703:561:288:238:6272:8677 0/1:-272.532,0,-369.484:692:330:310:7777:9724 . 0/1:-279.661,0,-558.858:836:440:344:8890:13647 . 0/1:-237.494,0,-324.353:632:309:282:6773:9016 . 1/1:-794.961,-147.587,0:632:17:543:13928:287 . 1/1:-694.177,-113.289,0:557:17:473:12195:494 1/1:-753.174,-140.56,0:573:8:498:12821:222 . . 0/1:-355.341,0,-538.595:902:444:388:9612:13504 0/1:-230.554,0,-350.504:608:301:268:7316:8874 0/1:-364.169,0,-451.171:834:392:381:9732:11829 0/1:-506.413,0,-653.321:1158:543:531:13949:16068 . . . 0/1:-262.698,0,-458.128:764:400:311:8241:11918 . . . . . 0/1:-290.629,0,-428.931:746:371:317:8615:11004 . . . 0/1:-382.927,0,-444.604:810:361:391:9840:11102 0/1:-258.399,0,-461.638:797:389:350:8712:11817 . . 0/1:-167.785,0,-272.294:546:260:244:6158:7796 . . . . . . 0/1:-396.354,0,-527.601:931:442:430:10958:13292 . . 0/1:-277.566,0,-563.356:874:452:348:8959:13668 1/1:-1134.76,-201.701,0:865:22:747:18965:494 . . . . . . 0/1:-381.566,0,-397.167:821:380:381:9929:11218 . 0/1:-237.072,0,-330.597:625:304:287:7636:9281 0/1:-383.703,0,-613.978:1013:504:442:11439:15139 . 0/1:-361.639,0,-439.901:833:390:404:10793:11730 0/1:-175.902,0,-309.648:511:265:205:5273:8110 0/1:-196.94,0,-258.311:474:221:218:5681:6696 . . . . . 0/1:-305.132,0,-398.353:719:351:322:8152:10531 0/1:-157.397,0,-249.485:455:210:206:5256:6296 . . . . . . 0/1:-351.595,0,-465.988:887:418:404:10278:12126 . . . . 0/1:-586.992,0,-706.16:931:445:443:12630:13832:445,443 . . 1/1:-1579.06,-233.362,0:921:15:848:23954:341:15,848 0/1:-387.367,0,-690.297:768:419:315:8589:12891:419,315 . 0/1:-475.727,0,-651.38:861:423:396:10850:13251:423,396 . 0/1:-512.626,0,-772.301:926:478:408:11280:14972:478,408 . 1/1:-1433.89,-215.574,0:834:11:769:22032:313:11,769 . 0/1:-432.077,0,-678.721:812:430:345:10019:13007:430,345 . 0/1:-531.316,0,-702.173:923:456:412:11967:13818:456,412 . 0/1:-408.183,0,-570.131:708:353:321:9005:11066:353,321 0/1:-553.805,0,-625.498:860:421:408:11944:12801:421,408 chr1 228451850 . C T 1144.01 . AB=0.407129;ABP=42.9401;AC=1;AF=0.5;AN=2;AO=217;CIGAR=1X;DP=533;DPB=533;DPRA=0;EPP=21.5128;EPPR=7.73912;GTI=0;LEN=1;MEANALT=3;MQM=18.9171;MQMR=21.9024;NS=1;NUMALT=1;ODDS=263.418;PAIRED=0.930876;PAIREDR=0.926829;PAO=0;PQA=0;PQR=0;PRO=0;QA=5401;QR=8931;RO=287;RPL=72;RPP=56.3365;RPPR=27.5926;RPR=145;RUN=1;SAF=146;SAP=59.2985;SAR=71;SF=0;SRF=193;SRP=77.1657;SRR=94;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4619T:p.A1540V,OBSCN:NM_052843:exon16:c.C4619T:p.A1540V,OBSCN:NM_001271223:exon18:c.C5171T:p.A1724V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770867123;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.66e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.504e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.587;SIFT_pred=T;Polyphen2_HDIV_score=0.784;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.364;Polyphen2_HVAR_pred=B;LRT_score=0.086;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.46;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_pred=N;VEST3_score=0.023;CADD_raw=-0.663;CADD_phred=0.088;DANN_score=0.346;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.926;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-1.66;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.353;phastCons7way_vertebrate=0.022;phastCons20way_mammalian=0.009;SiPhy_29way_logOdds=7.187;GDI_full_10282015=.;dpsi_max_tissue=-0.3449;dpsi_zscore=-0.915;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.625e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-136.75,0,-342.115:533:287:217:5401:8931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228452016 . G C 6086.48 . AB=0.470738;ABP=11.7791;AC=7;AF=0.5;AN=14;AO=555;CIGAR=1X;DP=9243;DPB=1179;DPRA=0;EPP=131.19;EPPR=73.0117;GTI=0;LEN=1;MEANALT=3;MQM=22.2288;MQMR=21.9276;NS=1;NUMALT=1;ODDS=1118.71;PAIRED=0.963964;PAIREDR=0.932566;PAO=0;PQA=0;PQR=0;PRO=0;QA=15196;QR=18632;RO=608;RPL=382;RPP=173.915;RPPR=172.742;RPR=173;RUN=1;SAF=237;SAP=28.6806;SAR=318;SF=0,1;SRF=263;SRP=27.0251;SRR=345;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.G4785C:p.E1595D,OBSCN:NM_052843:exon16:c.G4785C:p.E1595D,OBSCN:NM_001271223:exon18:c.G5337C:p.E1779D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0139;esp6500siv2_ea=0.0195;esp6500siv2_all=0.0139;esp6500siv2_ea=0.0195;1000g2015aug_all=0.00399361;avsnp147=rs185523702;Kaviar_AF=0.0134345;Kaviar_AC=2077;Kaviar_AN=154602;ExAC_ALL=0.0137;ExAC_AFR=0.0025;ExAC_AMR=0.0078;ExAC_EAS=0.0001;ExAC_FIN=0.0271;ExAC_NFE=0.0190;ExAC_OTH=0.0078;ExAC_SAS=0.0049;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.291;SIFT_pred=T;Polyphen2_HDIV_score=0.279;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.36;MutationAssessor_pred=N;FATHMM_score=3.65;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_pred=N;VEST3_score=0.049;CADD_raw=-1.319;CADD_phred=0.004;DANN_score=0.736;fathmm-MKL_coding_score=0.390;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.858;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=3.77;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.131;phastCons7way_vertebrate=0.883;phastCons20way_mammalian=0.630;SiPhy_29way_logOdds=13.174;GDI_full_10282015=.;dpsi_max_tissue=0.5311;dpsi_zscore=1.163;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0134;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0082;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0274;gnomAD_exome_NFE=0.0186;gnomAD_exome_OTH=0.0132;gnomAD_exome_SAS=0.0055;gnomAD_genome_ALL=0.0140;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0246;gnomAD_genome_NFE=0.0189;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-527.506,0,-682.03:1179:608:555:15196:18632 . . . . . . . . . . . . . . . . . . . . . 0/1:-711.58,0,-881.309:1512:766:725:20524:22921 . . . . . . . . . . . . . . . . . . 0/1:-418.525,0,-562.863:1012:533:464:12889:15883 . . . . . . . . . . . . . . . . . . . . . 0/1:-683.687,0,-793.345:1391:705:671:19215:21221 . . . . . . . . . . . . . . . 0/1:-651.69,0,-749.237:1383:697:669:19220:21118 . . . . . . . . . . . 0/1:-884.391,0,-1032.55:1365:692:660:21017:22263:692,660 . . . . 0/1:-956.458,0,-1086.31:1401:718:678:22076:23175:718,678 . . . . . . chr1 228452032 . G A 4320.39 . AB=0.453596;ABP=19.1326;AC=2;AF=0.5;AN=4;AO=391;CIGAR=1X;DP=2338;DPB=862;DPRA=0;EPP=4.6153;EPPR=83.2213;GTI=0;LEN=1;MEANALT=3;MQM=21.578;MQMR=23.1135;NS=1;NUMALT=1;ODDS=734.07;PAIRED=0.951407;PAIREDR=0.971631;PAO=0;PQA=0;PQR=0;PRO=0;QA=10596;QR=12245;RO=423;RPL=250;RPP=68.9931;RPPR=123.181;RPR=141;RUN=1;SAF=121;SAP=126.307;SAR=270;SF=0;SRF=175;SRP=30.3667;SRR=248;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.G4801A:p.A1601T,OBSCN:NM_052843:exon16:c.G4801A:p.A1601T,OBSCN:NM_001271223:exon18:c.G5353A:p.A1785T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0044;1000g2015aug_all=0.0571086;avsnp147=rs55706639;Kaviar_AF=0.0242106;Kaviar_AC=3743;Kaviar_AN=154602;ExAC_ALL=0.0262;ExAC_AFR=0.0249;ExAC_AMR=0.0047;ExAC_EAS=0.2210;ExAC_FIN=0.0059;ExAC_NFE=0.0043;ExAC_OTH=0.0223;ExAC_SAS=0.0370;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.79;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.487;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=-2.05;PROVEAN_pred=N;VEST3_score=0.209;CADD_raw=3.095;CADD_phred=22.5;DANN_score=0.971;fathmm-MKL_coding_score=0.063;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.994;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.75;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.846;phastCons20way_mammalian=0.017;SiPhy_29way_logOdds=8.895;GDI_full_10282015=.;dpsi_max_tissue=-0.0258;dpsi_zscore=-0.141;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0253;gnomAD_exome_AFR=0.0249;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0090;gnomAD_exome_EAS=0.2194;gnomAD_exome_FIN=0.0065;gnomAD_exome_NFE=0.0042;gnomAD_exome_OTH=0.0163;gnomAD_exome_SAS=0.0349;gnomAD_genome_ALL=0.0198;gnomAD_genome_AFR=0.0243;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.1964;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0031;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-346.254,0,-472.602:862:423:391:10596:12245 . . 0/1:-587.605,0,-873.694:1476:746:656:18217:22455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228459861 . C T 2069.87 . AB=0.405272;ABP=50.3212;AC=1;AF=0.5;AN=2;AO=246;CIGAR=1X;DP=607;DPB=607;DPRA=0;EPP=8.97744;EPPR=4.55157;GTI=0;LEN=1;MEANALT=3;MQM=27.8455;MQMR=25.7098;NS=1;NUMALT=1;ODDS=476.606;PAIRED=0.95122;PAIREDR=0.958991;PAO=0;PQA=0;PQR=0;PRO=0;QA=5995;QR=9496;RO=317;RPL=184;RPP=134.393;RPPR=167.583;RPR=62;RUN=1;SAF=76;SAP=81.0068;SAR=170;SF=0;SRF=115;SRP=54.8585;SRR=202;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon20:c.C5925T:p.D1975D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs753775842;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.69e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.068e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3686;dpsi_zscore=-0.946;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.037e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.669e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-238.227,0,-406.606:607:317:246:5995:9496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228461097 . C G 7318.24 . AB=0.505088;ABP=3.25336;AC=5;AF=0.5;AN=10;AO=546;CIGAR=1X;DP=5906;DPB=1081;DPRA=0;EPP=17.3277;EPPR=3.21375;GTI=0;LEN=1;MEANALT=3;MQM=28.2125;MQMR=28.8413;NS=1;NUMALT=1;ODDS=1657.16;PAIRED=0.950549;PAIREDR=0.908222;PAO=0;PQA=0;PQR=0;PRO=0;QA=15078;QR=15647;RO=523;RPL=215;RPP=56.5256;RPPR=174.108;RPR=331;RUN=1;SAF=312;SAP=27.2067;SAR=234;SF=0;SRF=291;SRP=17.4633;SRR=232;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.C6111G:p.D2037E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00219649;avsnp147=rs116320185;Kaviar_AF=0.0049999;Kaviar_AC=773;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0010;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0044;ExAC_NFE=0.0079;ExAC_OTH=0.0011;ExAC_SAS=0.0011;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.3;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.53;CADD_raw=1.035;CADD_phred=10.86;DANN_score=0.972;fathmm-MKL_coding_score=0.082;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.850;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-9.04;phyloP7way_vertebrate=-1.376;phyloP20way_mammalian=-1.280;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.908;SiPhy_29way_logOdds=18.945;GDI_full_10282015=.;dpsi_max_tissue=-2.1290;dpsi_zscore=-1.940;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0074;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0031;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-737.053,0,-769.04:1081:523:546:15078:15647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-788.07,0,-827.094:1168:583:575:16003:17276 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-720.024,0,-990.607:1249:662:569:15738:19809 . . . . 0/1:-821.902,0,-1099.84:1267:660:589:16880:19732 . . . . . . . 0/1:-708.275,0,-891.612:1141:595:518:14733:17521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228461129 . A G 16337.27 . AB=0.508909;ABP=3.62934;AC=152;AF=0.5;AN=204;AO=457;CIGAR=1X;DP=123653;DPB=898;DPRA=0;EPP=61.5545;EPPR=16.3159;GTI=0;LEN=1;MEANALT=3;MQM=29.0722;MQMR=31.2181;NS=1;NUMALT=1;ODDS=1298.24;PAIRED=0.932166;PAIREDR=0.887255;PAO=0;PQA=0;PQR=0;PRO=0;QA=12468;QR=11291;RO=408;RPL=256;RPP=17.3838;RPPR=37.0726;RPR=201;RUN=1;SAF=229;SAP=3.01505;SAR=228;SF=0,1;SRF=197;SRP=4.05346;SRR=211;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.A6143G:p.H2048R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7357;esp6500siv2_ea=0.6953;esp6500siv2_all=0.7357;esp6500siv2_ea=0.6953;1000g2015aug_all=0.69349;avsnp147=rs1188724;Kaviar_AF=0.680023;Kaviar_AC=105133;Kaviar_AN=154602;ExAC_ALL=0.6908;ExAC_AFR=0.8132;ExAC_AMR=0.7420;ExAC_EAS=0.7286;ExAC_FIN=0.7517;ExAC_NFE=0.6973;ExAC_OTH=0.6432;ExAC_SAS=0.5151;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.12;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.018;CADD_raw=-0.541;CADD_phred=0.174;DANN_score=0.112;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.004;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-1.1;phyloP7way_vertebrate=-0.385;phyloP20way_mammalian=-1.962;phastCons7way_vertebrate=0.584;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=11.816;GDI_full_10282015=.;dpsi_max_tissue=0.6982;dpsi_zscore=1.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6902;gnomAD_exome_AFR=0.8111;gnomAD_exome_AMR=0.7432;gnomAD_exome_ASJ=0.6409;gnomAD_exome_EAS=0.7290;gnomAD_exome_FIN=0.7484;gnomAD_exome_NFE=0.6933;gnomAD_exome_OTH=0.6762;gnomAD_exome_SAS=0.5153;gnomAD_genome_ALL=0.7432;gnomAD_genome_AFR=0.8083;gnomAD_genome_AMR=0.7464;gnomAD_genome_ASJ=0.6358;gnomAD_genome_EAS=0.7027;gnomAD_genome_FIN=0.7607;gnomAD_genome_NFE=0.7098;gnomAD_genome_OTH=0.7092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-642.903,0,-576.353:898:408:457:12468:11291 1/1:-2438.76,-357.972,0:1265:8:1236:34670:187 1/1:-2193.98,-314.675,0:1111:6:1082:30803:186 0/1:-536.901,0,-503.156:764:351:386:10721:9651 0/1:-738.214,0,-862.548:1183:578:556:15372:16106 1/1:-3288.84,-476.766,0:1692:12:1643:46575:282 1/1:-1953.56,-284.761,0:1033:10:1007:28559:268 1/1:-2793.03,-397.593,0:1479:15:1413:39578:426 1/1:-2359.65,-333.863,0:1187:10:1152:32553:241 1/1:-2304.37,-323.672,0:1230:16:1184:33203:476 1/1:-2050.34,-276.838,0:1100:21:1051:29683:555 0/1:-747.876,0,-733.31:1081:500:548:15170:13946 1/1:-2082.13,-284.148,0:1069:12:1038:29534:406 1/1:-1808.14,-262.313,0:981:12:942:25639:376 . 0/1:-1201.39,0,-1137.09:1640:759:815:23446:21319 1/1:-1525.51,-233.163,0:805:4:787:22080:56 . 0/1:-813.318,0,-748.082:1128:517:573:16268:14400 . 1/1:-1902.24,-274.784,0:966:5:938:26387:127 0/1:-703.958,0,-982.645:1226:642:545:15048:17902 0/1:-517.11,0,-380.08:672:288:356:9666:7685 1/1:-3112.3,-450.036,0:1558:8:1523:43668:200 . 1/1:-1821.23,-279.12,0:982:4:952:26443:113 . 1/1:-1980.36,-291.699,0:1011:3:987:28227:77 1/1:-1717.38,-245.658,0:905:8:868:24820:209 1/1:-2041.79,-303.716,0:1050:5:1029:29045:114 1/1:-1877.05,-273.353,0:939:3:922:26289:86 0/1:-887.546,0,-834.141:1226:567:614:17840:15664 1/1:-2603.54,-375.738,0:1318:6:1284:36348:168 1/1:-2669.66,-386.592,0:1403:16:1343:37121:337 0/1:-729.421,0,-750.14:1043:515:495:14518:13964 1/1:-2829.85,-414.449,0:1490:10:1448:40055:288 1/1:-3392.23,-500.56,0:1736:5:1690:47183:110 1/1:-2054.18,-304.405,0:1048:3:1023:29221:64 1/1:-2414.24,-356.879,0:1238:4:1199:33723:78 0/1:-605.05,0,-627.274:828:397:396:11619:11257 1/1:-2771.05,-408.372,0:1408:2:1369:39205:50 0/1:-844.245,0,-829.257:1207:549:588:16246:15368 . 0/1:-716.246,0,-630.186:978:439:510:14097:12175 0/1:-914.962,0,-808.539:1225:557:620:17727:15342 . 1/1:-2288.7,-341.348,0:1177:3:1153:32475:86 1/1:-1506.07,-215.935,0:761:3:740:20976:99 . . 1/1:-2774.75,-394.127,0:1416:14:1380:38761:342 1/1:-2165.51,-325.638,0:1203:14:1154:31914:434 0/1:-1030.64,0,-808.861:1293:549:687:19737:15282 . 1/1:-1860.3,-280.845,0:986:4:952:26260:78 0/1:-753.544,0,-644.383:997:446:513:14645:12443 0/1:-1078.11,0,-915.663:1360:600:699:20043:16861 0/1:-559.672,0,-473.834:761:334:390:11111:9347 0/1:-689.656,0,-596.684:885:394:456:12896:11204 1/1:-2885.93,-410.894,0:1467:10:1421:39856:255 0/1:-480.256,0,-576.69:809:402:372:10425:11045 0/1:-1149.48,0,-1068.23:1567:732:769:21753:20224 0/1:-779.53,0,-723.722:1068:479:547:15350:13311 0/1:-601.587,0,-493.681:833:373:424:11875:9924 1/1:-2768.26,-382.1,0:1410:14:1366:39204:400 1/1:-2557.63,-369.279,0:1310:8:1273:35827:196 0/1:-370.286,0,-484.85:664:319:308:8272:9065 1/1:-2034.88,-288.643,0:1042:11:1017:28653:282 1/1:-2387.79,-344.152,0:1218:7:1184:33088:168 0/1:-794.81,0,-780.957:1152:527:572:15676:14465 1/1:-2369.25,-333.557,0:1222:12:1187:33507:322 1/1:-3229.15,-460.553,0:1610:7:1565:45048:169 1/1:-2282.76,-342.514,0:1206:5:1168:32599:127 0/1:-475.543,0,-623.22:890:418:421:11368:12043 1/1:-2020.37,-291.329,0:1011:3:984:28201:82 0/1:-1204.77,0,-970.528:1546:681:801:22505:18798 0/1:-1004.53,0,-955.183:1398:635:706:19735:17842 0/1:-881.206,0,-881.359:1240:583:603:17291:16045 1/1:-1472.47,-212.981,0:753:4:735:20534:107 1/1:-1389.22,-215.121,0:736:1:716:19709:36 0/1:-918.108,0,-651.169:1153:470:623:17463:12837 0/1:-928.721,0,-1001.62:1372:662:657:18677:18638 0/1:-1006.06,0,-944.622:1421:651:699:19711:17759 . 0/1:-832.449,0,-820.161:1206:548:604:16679:15291 1/1:-2210.71,-320.656,0:1127:9:1098:31042:215 1/1:-1540.42,-214.54,0:783:10:763:21731:210 1/1:-2509.11,-368.153,0:1269:6:1243:34787:124 1/1:-1437.89,-211.855,0:722:2:710:19997:28 0/1:-728.906,0,-699.05:982:455:493:14269:12775 0/1:-1125.68,0,-920.968:1486:662:769:21745:17936 0/1:-914.786,0,-797.771:1237:559:627:17562:15458 0/1:-974.243,0,-750.133:1221:513:662:18484:14350 0/1:-983.435,0,-809.735:1289:560:672:18684:15673 0/1:-1000.05,0,-947.019:1428:646:717:19833:17634 . 0/1:-1602.1,0,-1639.86:1778:855:894:27305:26375:855,894 . 0/1:-1415.94,0,-1254.05:1510:668:807:24661:20802:668,807 0/1:-1019.51,0,-948.249:1091:494:568:17145:15433:494,568 . 1/1:-3878.5,-489.334,0:1728:9:1689:51506:254:9,1689 0/1:-1223.37,0,-1255.26:1384:664:691:21051:20194:664,691 0/1:-1451.49,0,-1217.47:1515:687:803:24889:20479:687,803 1/1:-3325.71,-406.925,0:1432:8:1403:43331:213:8,1403 0/1:-1594.08,0,-1163.57:1590:669:883:26978:20341:669,883 0/1:-1712.07,0,-1467.63:1765:797:941:29063:24444:797,941 0/1:-1041.73,0,-1148.09:1208:594:588:17920:18095:594,588 1/1:-3307.14,-420.304,0:1463:6:1426:43002:135:6,1426 0/1:-1118.4,0,-1184.27:1301:636:644:19758:19421:636,644 0/1:-1515.87,0,-1409.34:1650:765:856:26302:23391:765,856 0/1:-1193.14,0,-1364.48:1451:726:694:21174:22056:726,694 0/1:-1436.44,0,-1335.93:1560:721:813:24783:22060:721,813 0/1:-1240.83,0,-1245:1398:678:692:21449:20307:678,692 1/1:-3082.38,-383.684,0:1344:6:1314:40372:157:6,1314 1/1:-3840.41,-458.395,0:1695:16:1634:50684:455:16,1634 chr1 228461187 . T C 7470.34 . AB=0.450769;ABP=16.6939;AC=5;AF=0.5;AN=10;AO=293;CIGAR=1X;DP=5404;DPB=650;DPRA=0;EPP=28.8086;EPPR=3.35689;GTI=0;LEN=1;MEANALT=3;MQM=31.3072;MQMR=31.6026;NS=1;NUMALT=1;ODDS=876.991;PAIRED=0.962457;PAIREDR=0.957655;PAO=0;PQA=0;PQR=0;PRO=0;QA=7764;QR=8064;RO=307;RPL=199;RPP=84.7184;RPPR=80.9923;RPR=94;RUN=1;SAF=110;SAP=42.5044;SAR=183;SF=0,1;SRF=94;SRP=103.174;SRR=213;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.T6201C:p.D2067D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0179;esp6500siv2_ea=0.0250;esp6500siv2_all=0.0179;esp6500siv2_ea=0.0250;1000g2015aug_all=0.00958466;avsnp147=rs185495392;Kaviar_AF=0.0164875;Kaviar_AC=2549;Kaviar_AN=154602;ExAC_ALL=0.0165;ExAC_AFR=0.0037;ExAC_AMR=0.0110;ExAC_EAS=0.0001;ExAC_FIN=0.0126;ExAC_NFE=0.0226;ExAC_OTH=0.0170;ExAC_SAS=0.0135;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8763;dpsi_zscore=1.442;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0172;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0108;gnomAD_exome_ASJ=0.0438;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0153;gnomAD_exome_NFE=0.0219;gnomAD_exome_OTH=0.0247;gnomAD_exome_SAS=0.0147;gnomAD_genome_ALL=0.0141;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0200;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . 0/1:-403.318,0,-420.852:650:307:293:7764:8064 . 0/1:-885.58,0,-742.743:1253:553:621:16309:14536 . . . . . . . . . . . . . . . . . . . . 0/1:-736.03,0,-630.417:1001:438:499:13778:11686 . . . . . . . . . . . . . . . 0/1:-1007.78,0,-887.923:1465:660:699:18964:17431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-888.947,0,-950.494:1035:536:469:14280:15480:536,469 . . . . . . . . . . . . . . . . chr1 228461200 . A G 8362.70 . AB=0.521201;ABP=7.42998;AC=1;AF=0.5;AN=2;AO=590;CIGAR=1X;DP=1132;DPB=1132;DPRA=0;EPP=56.0089;EPPR=3.28936;GTI=0;LEN=1;MEANALT=3;MQM=32.0203;MQMR=34.4317;NS=1;NUMALT=1;ODDS=1662.2;PAIRED=0.937288;PAIREDR=0.957831;PAO=0;PQA=0;PQR=0;PRO=0;QA=15677;QR=13867;RO=498;RPL=339;RPP=31.5118;RPPR=48.3758;RPR=251;RUN=1;SAF=192;SAP=159.194;SAR=398;SF=0;SRF=129;SRP=254.169;SRR=369;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.A6214G:p.S2072G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.465;MutationAssessor_pred=M;FATHMM_score=3.46;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_pred=D;VEST3_score=0.286;CADD_raw=3.916;CADD_phred=23.5;DANN_score=0.996;fathmm-MKL_coding_score=0.406;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.188;MetaSVM_pred=T;MetaLR_score=0.044;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.52;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.977;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.904;SiPhy_29way_logOdds=8.965;GDI_full_10282015=.;dpsi_max_tissue=0.8590;dpsi_zscore=1.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.07e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.985e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-870.135,0,-762.252:1132:498:590:15677:13867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228461757 . G A 4242.11 . AB=0;ABP=0;AC=52;AF=1;AN=92;AO=543;CIGAR=1X;DP=25080;DPB=609;DPRA=0;EPP=94.1921;EPPR=4.31318;GTI=0;LEN=1;MEANALT=3;MQM=28.337;MQMR=20.7333;NS=1;NUMALT=1;ODDS=676.74;PAIRED=0.937385;PAIREDR=0.933333;PAO=0;PQA=0;PQR=0;PRO=0;QA=14375;QR=314;RO=15;RPL=359;RPP=125.481;RPPR=14.7363;RPR=184;RUN=1;SAF=288;SAP=7.36524;SAR=255;SF=0,1;SRF=10;SRP=6.62942;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2182;esp6500siv2_ea=0.1774;esp6500siv2_all=0.2182;esp6500siv2_ea=0.1774;1000g2015aug_all=0.206669;avsnp147=rs474735;Kaviar_AF=0.184163;Kaviar_AC=28472;Kaviar_AN=154602;ExAC_ALL=0.2052;ExAC_AFR=0.3342;ExAC_AMR=0.3271;ExAC_EAS=0.1526;ExAC_FIN=0.1651;ExAC_NFE=0.1897;ExAC_OTH=0.1921;ExAC_SAS=0.1351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1063;dpsi_zscore=-0.468;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2007;gnomAD_exome_AFR=0.3206;gnomAD_exome_AMR=0.3182;gnomAD_exome_ASJ=0.2198;gnomAD_exome_EAS=0.1527;gnomAD_exome_FIN=0.1542;gnomAD_exome_NFE=0.1830;gnomAD_exome_OTH=0.1987;gnomAD_exome_SAS=0.1225;gnomAD_genome_ALL=0.2155;gnomAD_genome_AFR=0.3127;gnomAD_genome_AMR=0.3026;gnomAD_genome_ASJ=0.1921;gnomAD_genome_EAS=0.1372;gnomAD_genome_FIN=0.1645;gnomAD_genome_NFE=0.1770;gnomAD_genome_OTH=0.1851;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-991.939,-149.219,0:609:15:543:14375:314 . . . 1/1:-1367.76,-194.06,0:788:13:713:19371:376 1/1:-721.224,-102.157,0:428:8:385:10208:196 0/1:-432.098,0,-519.204:694:334:329:8743:10336 0/1:-317.575,0,-446.296:536:266:242:6557:8479 . 0/1:-255.832,0,-395.491:516:265:230:5833:8192 . 0/1:-360.912,0,-414.037:559:269:265:7158:8393 . . . . . . . . . 0/1:-149.68,0,-208.661:298:142:139:3547:4366 0/1:-388.015,0,-466.402:630:313:294:8097:9585 . 0/1:-256.351,0,-226.891:418:182:215:5665:5471 . . 0/1:-284.108,0,-320.449:481:235:225:5938:7257 . . 0/1:-355.813,0,-364.63:536:254:261:7030:7808 0/1:-399.839,0,-484.819:644:320:292:7816:9963 . . . . 0/1:-243.253,0,-272.836:380:184:181:4937:5737 1/1:-1015.96,-149.886,0:616:13:559:14832:328 . 0/1:-381.541,0,-426.927:555:273:265:7505:8341 . . 0/1:-338.382,0,-419.472:549:274:255:6731:8599 . . . 0/1:-251.914,0,-318.184:412:203:192:5155:6339 . . . 0/1:-254.978,0,-339.441:489:247:210:5616:7689 0/1:-328.948,0,-448.05:559:279:257:6925:8743 . . . . 0/1:-192.342,0,-203.067:320:150:153:4006:4607 . . 0/1:-198.982,0,-226.535:347:173:164:4461:5472 . . 0/1:-186.555,0,-258.159:332:170:145:3999:5349 0/1:-345.792,0,-510.316:611:323:266:7195:10097 . 0/1:-208.737,0,-136.679:279:107:160:4268:3270 . 1/1:-1303.69,-190.549,0:780:16:693:18647:308 0/1:-440.633,0,-506.361:692:324:340:9054:10142 0/1:-393.459,0,-460.27:647:307:307:7856:9698 0/1:-438.826,0,-675.316:778:411:350:9192:12925 0/1:-348.397,0,-437.963:561:265:272:7156:8409 0/1:-179.573,0,-195.943:346:168:168:4291:5000 . . . . 0/1:-283.013,0,-323.41:444:215:215:5735:6741 . 0/1:-302.303,0,-460.714:589:302:261:6707:9394 0/1:-517.827,0,-426.412:707:306:362:9616:9440 0/1:-431.73,0,-616.741:781:397:351:9266:12290 . . 0/1:-322.027,0,-488.082:611:325:259:6758:10149 0/1:-299.634,0,-287.676:419:187:222:5941:5845 . 1/1:-602.637,-82.7611,0:369:10:331:8735:250 0/1:-331.472,0,-351.382:494:236:233:6414:7385 . . . . . . 0/1:-665.857,0,-870.442:802:410:365:10776:13118:410,365 . . 0/1:-555.561,0,-515.76:556:260:287:8594:8254:260,287 . . . 0/1:-658.583,0,-705.792:716:344:356:10356:10770:344,356 . 0/1:-533.63,0,-617.546:609:306:286:8450:9670:306,286 . . . . . 0/1:-565.515,0,-598.974:607:297:301:8869:9314:297,301 . 0/1:-440.365,0,-590.109:540:280:245:7024:8971:280,245 0/1:-378.182,0,-510.9:446:240:197:5956:7654:240,197 . chr1 228461767 . C T 2755.46 . AB=0.526682;ABP=5.67552;AC=1;AF=0.5;AN=2;AO=227;CIGAR=1X;DP=431;DPB=431;DPRA=0;EPP=75.415;EPPR=34.9199;GTI=0;LEN=1;MEANALT=3;MQM=28.4053;MQMR=29.6045;NS=1;NUMALT=1;ODDS=549.115;PAIRED=0.951542;PAIREDR=0.949153;PAO=0;PQA=0;PQR=0;PRO=0;QA=5917;QR=5244;RO=177;RPL=144;RPP=38.6052;RPPR=16.3704;RPR=83;RUN=1;SAF=127;SAP=9.98388;SAR=100;SF=0;SRF=99;SRP=8.42058;SRR=78;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764143872;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0014;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7205;dpsi_zscore=-1.286;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.78e-05;gnomAD_genome_ALL=9.706e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.677e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-295.799,0,-251.984:431:177:227:5917:5244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228461999 . C T 9144.75 . AB=0.487805;ABP=5.18177;AC=2;AF=0.5;AN=4;AO=820;CIGAR=1X;DP=2848;DPB=1681;DPRA=0;EPP=3.39163;EPPR=16.9193;GTI=0;LEN=1;MEANALT=3;MQM=32.5634;MQMR=34.0178;NS=1;NUMALT=1;ODDS=2589.42;PAIRED=0.873171;PAIREDR=0.853875;PAO=0;PQA=0;PQR=0;PRO=0;QA=21193;QR=24150;RO=787;RPL=374;RPP=16.7382;RPPR=7.20701;RPR=446;RUN=1;SAF=312;SAP=104.741;SAR=508;SF=0;SRF=288;SRP=125.852;SRR=499;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon19:c.C5537T:p.T1846M,OBSCN:NM_052843:exon19:c.C5537T:p.T1846M,OBSCN:NM_001271223:exon23:c.C6662T:p.T2221M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0014;1000g2015aug_all=0.000399361;avsnp147=rs200976664;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0006;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0011;ExAC_SAS=0.0042;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.217;SIFT_pred=T;Polyphen2_HDIV_score=0.722;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.154;Polyphen2_HVAR_pred=B;LRT_score=0.751;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=0.05;FATHMM_pred=T;PROVEAN_score=-1.48;PROVEAN_pred=N;VEST3_score=0.077;CADD_raw=1.078;CADD_phred=11.10;DANN_score=0.975;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.919;MetaSVM_pred=T;MetaLR_score=0.177;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.09;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=3.980;GDI_full_10282015=.;dpsi_max_tissue=0.2613;dpsi_zscore=0.831;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=5.81e-05;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1144.76,0,-1370.22:1681:787:820:21193:24150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-719.849,0,-1106.52:1167:608:525:14109:18797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228462520 . C T 5524.64 . AB=0.444929;ABP=27.1665;AC=1;AF=0.5;AN=2;AO=408;CIGAR=1X;DP=917;DPB=917;DPRA=0;EPP=24.8102;EPPR=30.7243;GTI=0;LEN=1;MEANALT=3;MQM=32.6667;MQMR=34.0695;NS=1;NUMALT=1;ODDS=1272.1;PAIRED=0.921569;PAIREDR=0.883436;PAO=0;PQA=0;PQR=0;PRO=0;QA=11173;QR=14708;RO=489;RPL=284;RPP=139.26;RPPR=98.9681;RPR=124;RUN=1;SAF=180;SAP=15.2727;SAR=228;SF=0;SRF=203;SRP=33.6019;SRR=286;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon20:c.C5931T:p.S1977S,OBSCN:NM_052843:exon20:c.C5931T:p.S1977S,OBSCN:NM_001271223:exon24:c.C7056T:p.S2352S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00179712;avsnp147=rs138680175;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0016;ExAC_SAS=0.0047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0142;dpsi_zscore=-0.066;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=5.923e-05;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0043;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-579.209,0,-861.574:917:489:408:11173:14708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228464246 . GAT GAG 40141.10 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1520;CIGAR=2M1X;DP=1592;DPB=1603;DPRA=0;EPP=138.533;EPPR=3.10471;GTI=0;LEN=1;MEANALT=9;MQM=38.8513;MQMR=30;NS=1;NUMALT=1;ODDS=1962.68;PAIRED=0.932237;PAIREDR=0.73913;PAO=24;PQA=641;PQR=217;PRO=7;QA=47739;QR=586;RO=23;RPL=753;RPP=3.29031;RPPR=5.3706;RPR=767;RUN=1;SAF=781;SAP=5.53035;SAR=739;SF=1;SRF=6;SRP=14.4341;SRR=17;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon22:c.6318delT:p.D2106fs,OBSCN:NM_052843:exon22:c.6318delT:p.D2106fs,OBSCN:NM_001271223:exon26:c.7443delT:p.D2481fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4029.37,-433.018,0:1592:23:1520:47739:586:23,1520 . . . . . . . . . . . . . . chr1 228464248 . T G 15764.04 . AB=0.569982;ABP=49.2071;AC=150;AF=0.5;AN=202;AO=619;CIGAR=1X;DP=121109;DPB=1086;DPRA=0;EPP=130.987;EPPR=81.0309;GTI=0;LEN=1;MEANALT=3;MQM=29.0065;MQMR=34.2982;NS=1;NUMALT=1;ODDS=1249.62;PAIRED=0.838449;PAIREDR=0.877193;PAO=0;PQA=0;PQR=0;PRO=0;QA=16149;QR=11288;RO=456;RPL=333;RPP=10.7595;RPPR=6.22941;RPR=286;RUN=1;SAF=291;SAP=7.8128;SAR=328;SF=0,1;SRF=249;SRP=11.4105;SRR=207;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6318G:p.D2106E,OBSCN:NM_052843:exon22:c.T6318G:p.D2106E,OBSCN:NM_001271223:exon26:c.T7443G:p.D2481E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7384;esp6500siv2_ea=0.6965;esp6500siv2_all=0.7384;esp6500siv2_ea=0.6965;1000g2015aug_all=0.695487;avsnp147=rs1188721;Kaviar_AF=0.660729;Kaviar_AC=102150;Kaviar_AN=154602;ExAC_ALL=0.6930;ExAC_AFR=0.8190;ExAC_AMR=0.7452;ExAC_EAS=0.7280;ExAC_FIN=0.7555;ExAC_NFE=0.6998;ExAC_OTH=0.6572;ExAC_SAS=0.5172;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-1.4;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-0.460;CADD_phred=0.276;DANN_score=0.574;fathmm-MKL_coding_score=0.065;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.037;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=-0.623;phyloP7way_vertebrate=-1.863;phyloP20way_mammalian=-0.337;phastCons7way_vertebrate=0.950;phastCons20way_mammalian=0.548;SiPhy_29way_logOdds=7.276;GDI_full_10282015=.;dpsi_max_tissue=-1.3255;dpsi_zscore=-1.638;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6914;gnomAD_exome_AFR=0.8154;gnomAD_exome_AMR=0.7458;gnomAD_exome_ASJ=0.6475;gnomAD_exome_EAS=0.7293;gnomAD_exome_FIN=0.7478;gnomAD_exome_NFE=0.6944;gnomAD_exome_OTH=0.6789;gnomAD_exome_SAS=0.5158;gnomAD_genome_ALL=0.7457;gnomAD_genome_AFR=0.8125;gnomAD_genome_AMR=0.75;gnomAD_genome_ASJ=0.6358;gnomAD_genome_EAS=0.7045;gnomAD_genome_FIN=0.7610;gnomAD_genome_NFE=0.7121;gnomAD_genome_OTH=0.7102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-825.037,0,-564.335:1086:456:619:16149:11288 1/1:-2496.18,-385.929,0:1359:20:1323:35936:344 1/1:-1962.66,-256.051,0:1008:27:972:27632:609 0/1:-459.22,0,-410.429:706:326:370:9376:8082 0/1:-653.295,0,-694.669:1105:533:547:13908:13536 1/1:-3178.01,-452.731,0:1734:44:1665:45400:904 1/1:-1941.27,-285.182,0:1056:22:1023:27810:410 1/1:-2418.99,-353.028,0:1316:27:1275:34441:468 1/1:-2183.4,-317.167,0:1159:17:1128:30741:371 1/1:-2387.09,-343.531,0:1271:24:1234:33817:480 1/1:-1861.19,-253.119,0:1005:31:966:26114:642 0/1:-966.942,0,-658.097:1254:530:698:18344:13541 1/1:-2198.38,-326.76,0:1164:15:1136:30625:260 1/1:-1745.73,-242.634,0:944:30:906:24961:632 . 0/1:-1383.36,0,-1002.68:1781:759:996:26345:19654 1/1:-1861.72,-259.276,0:1003:24:970:26420:508 . 0/1:-597.294,0,-764.722:1028:535:481:11946:13705 . 1/1:-1632.82,-237.966,0:831:8:814:22738:132 0/1:-926.958,0,-679.208:1286:558:699:18474:13501 0/1:-584.566,0,-378.141:773:329:436:11377:8067 1/1:-3058.4,-425.056,0:1612:37:1550:42447:710 . 1/1:-1742.97,-268.366,0:969:15:943:25393:258 . 1/1:-2060.68,-289.954,0:1054:22:1029:28347:438 1/1:-1906.21,-295.156,0:1043:14:1017:27245:253 1/1:-1817.68,-269.018,0:967:17:938:25843:286 1/1:-1912.11,-283.727,0:1020:15:994:27095:272 0/1:-1080.21,0,-841.787:1475:659:789:20665:16473 1/1:-2599.91,-396.218,0:1431:20:1385:37682:351 1/1:-2153.07,-305.441,0:1172:29:1129:30769:571 0/1:-761.243,0,-756.836:1158:551:591:15453:14095 1/1:-2458.86,-348.11,0:1309:34:1259:34786:594 1/1:-2793.78,-416.614,0:1487:18:1457:39646:349 1/1:-1859.07,-274.113,0:975:15:950:26617:268 1/1:-2166.27,-337.258,0:1168:11:1139:30558:167 0/1:-592.199,0,-467.901:856:371:473:12551:9460 1/1:-2814.27,-421.564,0:1462:15:1438:39453:210 0/1:-809.478,0,-844.166:1267:605:636:16171:15256 . 0/1:-769.072,0,-617.795:1065:476:573:14952:12147 0/1:-1078.78,0,-889.638:1494:664:804:20880:17118 . 1/1:-2342.09,-356.762,0:1268:16:1227:32448:237 1/1:-1333.93,-182.473,0:692:15:667:18460:301 . . 1/1:-2520.07,-388.794,0:1398:20:1360:35767:348 1/1:-2248,-341.332,0:1237:23:1208:31878:433 0/1:-1061.92,0,-905.108:1472:663:787:20624:17020 . 1/1:-1759.81,-259.838,0:960:17:929:25236:307 0/1:-626.779,0,-500.115:940:424:497:12978:10304 0/1:-1018.03,0,-680.569:1364:574:767:19740:14449 0/1:-547.007,0,-442.36:804:358:429:11074:8884 0/1:-653.746,0,-465.966:862:383:468:12326:9400 1/1:-2573.97,-368.605,0:1360:21:1321:36393:487 0/1:-527.182,0,-386.594:744:318:414:10653:8128 0/1:-961.015,0,-977.143:1505:748:732:18922:18576 0/1:-897.082,0,-645.089:1224:529:675:17772:13139 0/1:-610.724,0,-441.294:846:373:458:11569:9244 1/1:-2652.09,-392.799,0:1445:30:1401:38572:563 1/1:-2352.92,-353.259,0:1261:17:1228:33292:307 0/1:-470.741,0,-462.039:750:342:398:10244:8920 1/1:-1879.74,-276.107,0:987:20:956:26642:355 1/1:-1959.44,-289.136,0:1098:23:1061:28273:499 0/1:-903.339,0,-639.846:1258:536:697:17640:13341 1/1:-1982.4,-299.313,0:1126:28:1086:29150:548 1/1:-3221.83,-468.416,0:1652:17:1612:44727:321 1/1:-2576.71,-389.805,0:1384:20:1349:36675:373 0/1:-422.79,0,-376.556:758:337:402:9393:8501 1/1:-2246.86,-323.651,0:1149:18:1117:30992:287 0/1:-890.507,0,-814.181:1391:651:716:17947:16429 0/1:-902.885,0,-795.827:1343:606:716:18196:15319 0/1:-999.545,0,-848.378:1410:650:742:19179:16468 1/1:-1396.29,-193.546,0:731:18:704:19781:336 1/1:-1162.05,-161.569,0:646:22:617:17098:487 0/1:-991.938,0,-688.253:1338:578:733:19481:14324 0/1:-1004.08,0,-830.771:1415:645:753:19515:16041 0/1:-957.253,0,-791.258:1351:611:725:18600:15416 . 0/1:-731.644,0,-586.881:1039:459:560:14266:11692 1/1:-2166.21,-330.709,0:1166:18:1133:31027:259 1/1:-1669.89,-234.811,0:875:20:849:23340:411 1/1:-2201.53,-344.638,0:1198:11:1171:31866:154 1/1:-1304.61,-189.608,0:678:13:661:18393:203 0/1:-727.788,0,-491.657:968:415:539:13929:10084 0/1:-1217.67,0,-1009.6:1715:765:927:24577:19984 0/1:-882.776,0,-635.744:1196:516:661:17146:12877 0/1:-917.71,0,-841.679:1441:670:746:19782:16736 0/1:-965.335,0,-799.531:1370:612:730:18904:15342 0/1:-1057.54,0,-663.371:1370:564:792:20336:14002 . 0/1:-1732.29,0,-1443.85:1595:749:840:26210:22395:749,840 . 0/1:-1411.78,0,-1592.89:1523:816:698:21828:23885:816,698 0/1:-860.192,0,-815.167:849:426:419:13026:12441:426,419 . . 0/1:-1261.6,0,-1041.33:1172:559:608:18938:16282:559,608 0/1:-1432.76,0,-1277.03:1378:669:701:21666:19688:669,701 1/1:-3439.93,-357.625,0:1332:23:1297:40990:461:23,1297 0/1:-1613.99,0,-1169.32:1423:644:776:24129:18769:644,776 0/1:-1535.27,0,-1361.29:1439:700:730:23256:20725:700,730 0/1:-1041.06,0,-1013.85:1052:534:515:15858:15478:534,515 1/1:-3314.27,-350.545,0:1273:18:1248:39260:346:18,1248 0/1:-1281.04,0,-1216.1:1271:629:637:19629:18476:629,637 0/1:-1718.89,0,-1692.56:1744:880:853:26377:25711:880,853 0/1:-1434.03,0,-1469.94:1449:740:699:22073:22147:740,699 0/1:-1490.75,0,-1505.83:1530:778:743:22983:22741:778,743 0/1:-1271.06,0,-1181.08:1242:616:624:19433:17967:616,624 1/1:-2938.06,-289.388,0:1125:21:1102:35100:575:21,1102 1/1:-4370.31,-460.168,0:1674:22:1646:51823:473:22,1646 chr1 228464255 . T C 6314.92 . AB=0.481103;ABP=6.04681;AC=2;AF=0.5;AN=4;AO=471;CIGAR=1X;DP=2159;DPB=979;DPRA=0;EPP=72.7602;EPPR=19.688;GTI=0;LEN=1;MEANALT=3;MQM=27.6582;MQMR=30.5731;NS=1;NUMALT=1;ODDS=1197.59;PAIRED=0.878981;PAIREDR=0.860731;PAO=0;PQA=0;PQR=0;PRO=0;QA=12884;QR=11174;RO=438;RPL=238;RPP=3.12556;RPPR=50.624;RPR=233;RUN=1;SAF=238;SAP=3.12556;SAR=233;SF=0;SRF=226;SRP=3.98201;SRR=212;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6325C:p.W2109R,OBSCN:NM_052843:exon22:c.T6325C:p.W2109R,OBSCN:NM_001271223:exon26:c.T7450C:p.W2484R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0080;esp6500siv2_ea=0.0109;esp6500siv2_all=0.0080;esp6500siv2_ea=0.0109;1000g2015aug_all=0.00259585;avsnp147=rs62621832;Kaviar_AF=0.0068498;Kaviar_AC=1059;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0024;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0051;ExAC_NFE=0.0115;ExAC_OTH=0.0048;ExAC_SAS=0.0009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.14;MutationAssessor_pred=M;FATHMM_score=2.1;FATHMM_pred=T;PROVEAN_score=-10.46;PROVEAN_pred=D;VEST3_score=0.664;CADD_raw=4.777;CADD_phred=24.7;DANN_score=0.916;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.729;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=5.14;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.950;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.581;SiPhy_29way_logOdds=14.955;GDI_full_10282015=.;dpsi_max_tissue=-0.1348;dpsi_zscore=-0.545;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0067;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0221;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0045;gnomAD_exome_NFE=0.0105;gnomAD_exome_OTH=0.0059;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0070;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0102;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-616.979,0,-534.759:979:438:471:12884:11174 . . . . . . . . . . . . . . . . . . . 0/1:-678.371,0,-632.879:1180:525:552:14977:13305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228464276 . T C 13744.19 . AB=0.506821;ABP=3.39538;AC=152;AF=0.5;AN=204;AO=483;CIGAR=1X;DP=107698;DPB=953;DPRA=0;EPP=10.5677;EPPR=6.68009;GTI=0;LEN=1;MEANALT=3;MQM=28.0124;MQMR=35.055;NS=1;NUMALT=1;ODDS=960.247;PAIRED=0.834369;PAIREDR=0.885;PAO=0;PQA=0;PQR=0;PRO=0;QA=13522;QR=8738;RO=400;RPL=333;RPP=153.57;RPPR=138.532;RPR=150;RUN=1;SAF=210;SAP=20.8541;SAR=273;SF=0,1;SRF=168;SRP=25.2462;SRR=232;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6346C:p.F2116L,OBSCN:NM_052843:exon22:c.T6346C:p.F2116L,OBSCN:NM_001271223:exon26:c.T7471C:p.F2491L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7089;esp6500siv2_ea=0.6960;esp6500siv2_all=0.7089;esp6500siv2_ea=0.6960;1000g2015aug_all=0.663538;avsnp147=rs1188722;Kaviar_AF=0.648944;Kaviar_AC=100328;Kaviar_AN=154602;ExAC_ALL=0.6843;ExAC_AFR=0.7208;ExAC_AMR=0.7400;ExAC_EAS=0.7297;ExAC_FIN=0.7553;ExAC_NFE=0.6993;ExAC_OTH=0.6523;ExAC_SAS=0.5187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=P;MutationAssessor_score=-2.96;MutationAssessor_pred=N;FATHMM_score=3.98;FATHMM_pred=T;PROVEAN_score=2.54;PROVEAN_pred=N;VEST3_score=0.115;CADD_raw=-0.742;CADD_phred=0.058;DANN_score=0.573;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.984;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=4.23;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.454;phastCons7way_vertebrate=0.052;phastCons20way_mammalian=0.007;SiPhy_29way_logOdds=11.771;GDI_full_10282015=.;dpsi_max_tissue=-0.1142;dpsi_zscore=-0.491;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6829;gnomAD_exome_AFR=0.7134;gnomAD_exome_AMR=0.7399;gnomAD_exome_ASJ=0.6380;gnomAD_exome_EAS=0.7298;gnomAD_exome_FIN=0.7473;gnomAD_exome_NFE=0.6931;gnomAD_exome_OTH=0.6715;gnomAD_exome_SAS=0.5151;gnomAD_genome_ALL=0.7177;gnomAD_genome_AFR=0.7154;gnomAD_genome_AMR=0.7416;gnomAD_genome_ASJ=0.6258;gnomAD_genome_EAS=0.7037;gnomAD_genome_FIN=0.7610;gnomAD_genome_NFE=0.7115;gnomAD_genome_OTH=0.7082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-653.927,0,-442.281:953:400:483:13522:8738 1/1:-2185.09,-340.418,0:1170:5:1140:32446:77 1/1:-1738.42,-233.72,0:883:13:859:24406:346 0/1:-397.952,0,-348.135:636:304:294:8357:6849 0/1:-501.209,0,-560.572:940:462:411:11217:10630 1/1:-2901.92,-428.624,0:1536:13:1489:41882:396 1/1:-1737.36,-267.312,0:937:4:909:25115:85 1/1:-2081.94,-313.249,0:1165:16:1110:30089:300 1/1:-1958.81,-288.627,0:1035:13:1001:27873:246 1/1:-2081.37,-306.596,0:1095:11:1062:29973:237 1/1:-1660.4,-228.055,0:899:17:856:23646:408 0/1:-822.351,0,-511.088:1113:464:571:15912:10486 1/1:-1960.97,-294.611,0:1009:3:989:27743:64 1/1:-1554.3,-227.255,0:853:15:816:22689:325 . 0/1:-1084.29,0,-813.391:1590:689:801:21651:16028 1/1:-1586.74,-226.627,0:844:13:818:23127:305 . 0/1:-481.359,0,-561.352:897:455:373:9997:10207 . 1/1:-1449.61,-215.502,0:739:1:722:20454:36 0/1:-781.495,0,-536.994:1128:481:572:15689:10772 0/1:-492.781,0,-301.478:677:282:349:9821:6455 1/1:-2706.96,-395.492,0:1411:12:1366:38235:230 . 1/1:-1604.65,-254.634,0:884:4:856:23533:78 . 1/1:-1792.7,-261.522,0:927:11:900:24796:226 1/1:-1689.11,-260.865,0:919:8:889:24476:174 1/1:-1599.84,-240.313,0:819:5:807:22884:83 1/1:-1631.28,-245.329,0:860:4:837:23389:96 0/1:-929.681,0,-612.605:1270:547:640:18164:12472 1/1:-2353.41,-361.237,0:1271:9:1229:34413:168 1/1:-1948.95,-297.296,0:1033:4:1003:27582:107 0/1:-576.678,0,-634.754:1004:499:446:12452:11673 1/1:-2179.75,-322.847,0:1131:9:1103:31222:139 1/1:-2494.21,-385.453,0:1352:6:1315:35859:137 1/1:-1624.53,-245.489,0:858:4:824:23594:56 1/1:-1926.3,-300.876,0:1031:2:1002:27777:41 0/1:-437.704,0,-396.419:747:335:362:9839:7713 1/1:-2507.83,-381.063,0:1290:1:1267:35518:14 0/1:-684.908,0,-686.274:1124:530:520:14119:12431 . 0/1:-707.327,0,-419.018:966:382:512:13698:8753 0/1:-878.082,0,-707.966:1331:592:648:17567:13929 . 1/1:-2054.78,-312.681,0:1073:2:1047:28927:46 1/1:-1153.46,-168.1,0:600:5:584:16060:127 . . 1/1:-2230.64,-337.246,0:1194:9:1158:32316:199 1/1:-1968.75,-301.974,0:1055:6:1028:28400:144 0/1:-852.958,0,-738.064:1296:601:609:17163:13899 . 1/1:-1540.13,-226.751,0:853:12:816:22376:264 0/1:-520.646,0,-376.724:831:361:405:11320:7826 0/1:-848.52,0,-592.365:1205:529:609:16705:12281 0/1:-479.937,0,-356.316:732:314:364:9756:7168 0/1:-560.828,0,-360.609:778:336:393:10791:7533 1/1:-2255.3,-324.498,0:1220:17:1162:32246:415 0/1:-427.021,0,-304.388:659:285:327:9038:6738 0/1:-810.985,0,-780.694:1351:653:610:16331:14828 0/1:-769.503,0,-500.137:1095:446:574:15463:10385 0/1:-499.848,0,-371.09:746:334:366:9837:7586 1/1:-2363.84,-359.323,0:1266:9:1219:34560:170 1/1:-2091.59,-314.89,0:1101:7:1072:29811:156 0/1:-423.176,0,-346.447:673:291:328:9188:6791 1/1:-1639.51,-241.685,0:867:10:836:23654:242 1/1:-1759.17,-261.897,0:949:10:922:25492:211 0/1:-731.74,0,-563.917:1111:485:558:14995:11362 1/1:-1743.53,-265.097,0:953:9:922:25792:179 1/1:-2827.1,-422.313,0:1449:2:1409:40183:28 1/1:-2336.67,-353.277,0:1247:8:1211:33729:170 0/1:-388.65,0,-327.729:706:306:349:8675:7407 1/1:-1911.35,-283.056,0:977:3:955:26667:60 0/1:-761.587,0,-618.062:1226:577:580:15905:12820 0/1:-727.08,0,-630.768:1164:519:555:15085:12006 0/1:-800.025,0,-679.521:1219:564:562:15681:13024 1/1:-1270.28,-185.489,0:654:5:635:18100:114 1/1:-1039,-157.427,0:573:6:547:15274:115 0/1:-832.963,0,-517.432:1188:489:605:16992:10995 0/1:-859.923,0,-666.178:1268:576:622:16914:12939 0/1:-764.398,0,-657.909:1207:561:569:15353:12840 . 0/1:-594.138,0,-476.546:942:420:448:11953:9415 1/1:-1929.62,-301.776,0:1034:2:1007:28405:35 1/1:-1441.01,-213.931,0:749:4:733:20403:96 1/1:-1999.75,-320.228,0:1092:2:1070:29564:28 1/1:-1133.38,-171.989,0:589:1:576:16234:21 0/1:-627.747,0,-382.144:833:355:429:12310:8046 0/1:-985.721,0,-815.756:1528:688:753:20378:16138 0/1:-779.838,0,-511.426:1058:448:546:15412:10596 0/1:-739.25,0,-646.577:1290:588:602:16856:13171 0/1:-814.502,0,-621.265:1213:537:587:16055:12291 0/1:-923.078,0,-523.112:1224:494:647:17954:11336 . 0/1:-1541.46,0,-1135.54:1391:631:716:23167:17965:631,716 . 0/1:-1223.71,0,-1342.84:1325:709:590:18918:20114:709,590 0/1:-781.259,0,-727.457:765:380:366:11885:11033:380,366 . 1/1:-3622.9,-399.765,0:1359:2:1346:43364:68:2,1346 0/1:-1068.19,0,-852.866:1019:493:504:16038:13495:493,504 0/1:-1220.87,0,-1058.24:1208:599:579:18462:16478:599,579 1/1:-3003.4,-322.881,0:1125:6:1114:35782:160:6,1114 0/1:-1382.99,0,-1003.48:1233:572:641:20810:16188:572,641 0/1:-1258.41,0,-1111.64:1235:607:601:19223:17021:607,601 0/1:-899.115,0,-894.127:940:490:430:13934:13808:490,430 1/1:-3015.69,-332.036,0:1114:0:1103:35296:0:0,1103 0/1:-1135.46,0,-983.161:1109:549:543:17254:15191:549,543 0/1:-1478.79,0,-1405.18:1509:765:709:22755:21470:765,709 0/1:-1235.65,0,-1111.71:1221:610:586:18801:16998:610,586 0/1:-1263.27,0,-1230.6:1313:659:612:19590:18728:659,612 0/1:-1015.41,0,-1015.72:1052:548:485:15700:15397:548,485 1/1:-2572.73,-263.366,0:972:11:957:30590:317:11,957 1/1:-3866.11,-409.028,0:1443:7:1420:45750:233:7,1420 chr1 228464303 . G T 4126.08 . AB=0.394877;ABP=92.9491;AC=9;AF=0.5;AN=18;AO=370;CIGAR=1X;DP=7969;DPB=937;DPRA=0;EPP=7.61147;EPPR=34.9902;GTI=0;LEN=1;MEANALT=3;MQM=27.9081;MQMR=27.9327;NS=1;NUMALT=1;ODDS=800.967;PAIRED=0.905405;PAIREDR=0.874545;PAO=0;PQA=0;PQR=0;PRO=0;QA=9477;QR=16568;RO=550;RPL=285;RPP=237.764;RPPR=344.271;RPR=85;RUN=1;SAF=148;SAP=35.1481;SAR=222;SF=0,1;SRF=222;SRP=47.3715;SRR=328;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.G6373T:p.A2125S,OBSCN:NM_052843:exon22:c.G6373T:p.A2125S,OBSCN:NM_001271223:exon26:c.G7498T:p.A2500S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0278;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0278;1000g2015aug_all=0.00459265;avsnp147=rs75280352;Kaviar_AF=0.0173413;Kaviar_AC=2681;Kaviar_AN=154602;ExAC_ALL=0.0204;ExAC_AFR=0.0045;ExAC_AMR=0.0108;ExAC_EAS=0.0001;ExAC_FIN=0.0381;ExAC_NFE=0.0290;ExAC_OTH=0.0234;ExAC_SAS=0.0071;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.816;SIFT_pred=T;Polyphen2_HDIV_score=0.844;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.292;Polyphen2_HVAR_pred=B;LRT_score=0.026;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.305;MutationAssessor_pred=N;FATHMM_score=3.67;FATHMM_pred=T;PROVEAN_score=-0.56;PROVEAN_pred=N;VEST3_score=0.081;CADD_raw=1.771;CADD_phred=14.82;DANN_score=0.968;fathmm-MKL_coding_score=0.218;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.959;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=1.86;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=0.943;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.012;SiPhy_29way_logOdds=4.583;GDI_full_10282015=.;dpsi_max_tissue=-0.1549;dpsi_zscore=-0.592;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0183;gnomAD_exome_AFR=0.0038;gnomAD_exome_AMR=0.0094;gnomAD_exome_ASJ=0.0255;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0334;gnomAD_exome_NFE=0.0253;gnomAD_exome_OTH=0.0221;gnomAD_exome_SAS=0.0072;gnomAD_genome_ALL=0.0196;gnomAD_genome_AFR=0.0051;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0313;gnomAD_genome_NFE=0.0274;gnomAD_genome_OTH=0.0245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-391.66,0,-832.201:937:550:370:9477:16568 . . . 0/1:-339.236,0,-638.683:749:428:307:7850:12616 . . . . . . . . . . . . . . . . . . . . . 0/1:-470.241,0,-847.33:972:542:409:10716:16374 . . . 0/1:-279.67,0,-666.576:673:378:280:6883:11298 . . . . . . . . . . . . . . 0/1:-331.692,0,-583.266:698:387:291:7579:11551 . . . . . . . . . . . . . . . . . . . . . 0/1:-409.162,0,-1023.1:1001:574:401:10188:17230 . . . . . . . . . . . . . . . 0/1:-421.496,0,-1076.52:1091:631:443:11450:19090 . . . . . . . . . . . 0/1:-876.217,0,-1012.62:946:483:461:13975:15359:483,461 . . . . 0/1:-831.755,0,-1021.31:902:470:430:13131:15038:470,430 . . . . . . chr1 228464633 . C G 8626.17 . AB=0.474132;ABP=11.2114;AC=1;AF=0.5;AN=2;AO=669;CIGAR=1X;DP=1411;DPB=1411;DPRA=0;EPP=58.7123;EPPR=53.698;GTI=0;LEN=1;MEANALT=3;MQM=29.0717;MQMR=31.1768;NS=1;NUMALT=1;ODDS=1986.25;PAIRED=0.940209;PAIREDR=0.906077;PAO=0;PQA=0;PQR=0;PRO=0;QA=17698;QR=20996;RO=724;RPL=330;RPP=3.27321;RPPR=41.9888;RPR=339;RUN=1;SAF=395;SAP=50.5328;SAR=274;SF=0;SRF=438;SRP=72.3055;SRR=286;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon23:c.C6490G:p.L2164V,OBSCN:NM_052843:exon23:c.C6490G:p.L2164V,OBSCN:NM_001271223:exon27:c.C7615G:p.L2539V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0064;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0064;esp6500siv2_ea=0.0026;1000g2015aug_all=0.00299521;avsnp147=rs201269256;Kaviar_AF=0.002238;Kaviar_AC=346;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0203;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0069;ExAC_OTH=0;ExAC_SAS=0.0005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.663;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.94;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.64;MutationAssessor_pred=M;FATHMM_score=3.52;FATHMM_pred=T;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.161;CADD_raw=2.771;CADD_phred=21.2;DANN_score=0.966;fathmm-MKL_coding_score=0.891;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.117;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=2.31;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=-0.015;phastCons7way_vertebrate=0.148;phastCons20way_mammalian=0.157;SiPhy_29way_logOdds=7.342;GDI_full_10282015=.;dpsi_max_tissue=-0.2844;dpsi_zscore=-0.830;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0148;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0288;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.41e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0071;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0050;gnomAD_genome_AFR=0.0149;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-881.687,0,-1123.32:1411:724:669:17698:20996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228464713 . G A 8953.87 . AB=0.440498;ABP=52.367;AC=1;AF=0.5;AN=2;AO=707;CIGAR=1X;DP=1605;DPB=1605;DPRA=0;EPP=8.17331;EPPR=3.60979;GTI=0;LEN=1;MEANALT=3;MQM=29.6294;MQMR=31.4798;NS=1;NUMALT=1;ODDS=2061.7;PAIRED=0.909477;PAIREDR=0.915337;PAO=0;PQA=0;PQR=0;PRO=0;QA=19112;QR=24768;RO=815;RPL=300;RPP=38.1746;RPPR=3.07691;RPR=407;RUN=1;SAF=308;SAP=28.4445;SAR=399;SF=0;SRF=395;SRP=4.67554;SRR=420;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon23:c.G6570A:p.S2190S,OBSCN:NM_052843:exon23:c.G6570A:p.S2190S,OBSCN:NM_001271223:exon27:c.G7695A:p.S2565S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs374013818;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3499;dpsi_zscore=-0.922;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.312e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.475e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.688e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-911.897,0,-1348.05:1605:815:707:19112:24768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228464841 . TC TG 37948.40 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1483;CIGAR=1M1X;DP=1553;DPB=1561.5;DPRA=0;EPP=133.915;EPPR=16.5402;GTI=0;LEN=1;MEANALT=11;MQM=38.0964;MQMR=26.3846;NS=1;NUMALT=1;ODDS=1970.77;PAIRED=0.927175;PAIREDR=0.769231;PAO=1;PQA=32;PQR=0;PRO=0;QA=46117;QR=286;RO=13;RPL=801;RPP=23.7454;RPPR=7.18621;RPR=682;RUN=1;SAF=590;SAP=137.441;SAR=893;SF=1;SRF=6;SRP=3.17734;SRR=7;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3824.9,-431.251,0:1553:13:1483:46117:286:13,1483 . . . . . . . chr1 228464842 . C G 17429.73 . AB=0.46439;ABP=14.2998;AC=149;AF=0.5;AN=202;AO=476;CIGAR=1X;DP=140433;DPB=1025;DPRA=0;EPP=64.3955;EPPR=42.359;GTI=0;LEN=1;MEANALT=3;MQM=29.1218;MQMR=29.0057;NS=1;NUMALT=1;ODDS=1436.6;PAIRED=0.859244;PAIREDR=0.796226;PAO=0;PQA=0;PQR=0;PRO=0;QA=13420;QR=16587;RO=530;RPL=281;RPP=36.7502;RPPR=26.6753;RPR=195;RUN=1;SAF=169;SAP=89.8874;SAR=307;SF=0,1;SRF=193;SRP=87.9681;SRR=337;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7387;esp6500siv2_ea=0.6953;esp6500siv2_all=0.7387;esp6500siv2_ea=0.6953;1000g2015aug_all=0.69369;avsnp147=rs936885;Kaviar_AF=0.594837;Kaviar_AC=91963;Kaviar_AN=154602;ExAC_ALL=0.6935;ExAC_AFR=0.8326;ExAC_AMR=0.7542;ExAC_EAS=0.7475;ExAC_FIN=0.7694;ExAC_NFE=0.7158;ExAC_OTH=0.6606;ExAC_SAS=0.5334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3362;dpsi_zscore=0.941;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6853;gnomAD_exome_AFR=0.8185;gnomAD_exome_AMR=0.7484;gnomAD_exome_ASJ=0.6388;gnomAD_exome_EAS=0.7264;gnomAD_exome_FIN=0.7465;gnomAD_exome_NFE=0.6887;gnomAD_exome_OTH=0.6686;gnomAD_exome_SAS=0.5141;gnomAD_genome_ALL=0.7420;gnomAD_genome_AFR=0.8133;gnomAD_genome_AMR=0.7512;gnomAD_genome_ASJ=0.6367;gnomAD_genome_EAS=0.7024;gnomAD_genome_FIN=0.7585;gnomAD_genome_NFE=0.7050;gnomAD_genome_OTH=0.7057;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-650.117,0,-804.917:1025:530:476:13420:16587 1/1:-2636.53,-380.6,0:1454:47:1382:39429:986 1/1:-2270.55,-314.937,0:1219:36:1162:33066:776 0/1:-558.157,0,-739.165:847:450:386:11105:14114 0/1:-914.431,0,-1234.26:1497:776:697:19769:23936 1/1:-3434.96,-477.929,0:1854:58:1761:50387:1150 1/1:-2035.87,-281.85,0:1140:44:1076:31076:850 1/1:-3125.77,-438.929,0:1705:49:1626:46478:1016 1/1:-2669.25,-360.616,0:1438:48:1372:38961:1072 1/1:-2370.52,-347.499,0:1287:26:1248:35336:687 1/1:-2356.12,-330.525,0:1245:31:1197:34171:649 0/1:-852.124,0,-992.349:1277:635:627:18208:19618 1/1:-2422.83,-337.256,0:1278:37:1221:35302:691 1/1:-1767.21,-263.146,0:1040:33:985:27380:653 . 0/1:-1285.65,0,-1639.97:1964:1006:935:26755:31491 1/1:-1540.38,-237.22,0:868:23:829:23861:559 . 0/1:-798.517,0,-935.562:1186:578:588:16750:18247 . 1/1:-2077.99,-279.341,0:1127:38:1070:30614:833 0/1:-923.103,0,-1134.93:1430:734:676:19464:22665 0/1:-475.526,0,-490.1:717:340:363:10312:10353 1/1:-3212.43,-441.843,0:1689:46:1620:46652:919 . 1/1:-1768.17,-259.606,0:1042:44:978:27418:885 . 1/1:-2243.5,-304.842,0:1190:38:1129:32578:870 1/1:-1767.69,-270.326,0:994:20:956:26939:373 1/1:-2192.46,-303.109,0:1140:25:1101:31849:501 1/1:-2075.8,-287.065,0:1090:34:1037:30132:732 0/1:-915.854,0,-1070.8:1351:672:662:19301:20861 0/1:-1067.04,0,-1240.75:1598:790:792:22609:24565 1/1:-3296.05,-473.582,0:1848:59:1766:49646:1193 0/1:-712.806,0,-952.1:1127:581:530:15264:18130 1/1:-2884.44,-412.511,0:1566:46:1491:42717:989 1/1:-4272.49,-616.759,0:2344:62:2244:63355:1139 1/1:-1803.58,-246.729,0:945:24:907:26387:503 1/1:-2453.11,-347.293,0:1348:43:1283:36939:952 0/1:-710.152,0,-925.253:1137:581:540:15103:17838 1/1:-2650.84,-356.135,0:1410:44:1342:39047:1005 0/1:-901.718,0,-1244.44:1517:775:715:20435:24454 . 0/1:-809.912,0,-1188.85:1346:712:618:17966:22624 0/1:-988.54,0,-1275.29:1495:759:709:19918:23930 . 1/1:-2675.67,-384.307,0:1410:32:1354:38854:591 1/1:-1476.72,-203.383,0:770:21:737:20942:340 . . 1/1:-3098.52,-406.276,0:1645:53:1576:45150:1202 1/1:-2003.16,-294.224,0:1200:45:1135:31803:999 0/1:-926.967,0,-1308.71:1462:782:660:19262:24388 . 1/1:-1790.41,-266.03,0:1008:30:957:26838:512 0/1:-719.598,0,-940.548:1127:569:542:15546:18061 0/1:-1087.6,0,-1205.9:1593:800:772:22463:24783 0/1:-434.612,0,-568.285:804:404:388:10587:12397 0/1:-630.528,0,-825.205:1021:514:493:14166:16104 1/1:-3186.94,-465.579,0:1748:37:1689:47924:816 0/1:-604.063,0,-580.005:872:394:461:12888:12015 0/1:-1134.64,0,-1573.38:1866:987:860:24657:30697 0/1:-854.003,0,-1349.73:1488:798:665:18796:24777 0/1:-470.503,0,-775.505:855:471:366:10403:14552 1/1:-2973.99,-391.913,0:1589:60:1509:43394:1328 1/1:-2923.75,-412.827,0:1559:37:1497:42642:730 0/1:-457.389,0,-435.391:709:322:369:9994:9704 1/1:-2547.31,-359.827,0:1371:36:1315:37199:818 1/1:-2623.7,-379.593,0:1466:37:1409:39244:855 0/1:-997.321,0,-1137.97:1484:728:738:20456:22395 1/1:-2698.86,-394.081,0:1475:37:1416:39802:725 1/1:-3563.07,-509.221,0:1869:46:1797:51463:927 1/1:-2677.8,-379.896,0:1447:40:1389:39669:803 0/1:-437.333,0,-539.492:837:427:391:10734:12388 1/1:-2059.32,-281.987,0:1073:28:1035:29859:616 0/1:-1285.71,0,-1512.11:1951:969:954:27470:30109 0/1:-1233.22,0,-1239.01:1707:808:877:24742:25130 0/1:-1063.86,0,-1317.2:1644:845:777:22031:26287 1/1:-1598.53,-214.516,0:906:36:855:23849:795 1/1:-1393.1,-196.57,0:752:20:718:20130:417 0/1:-875.28,0,-1135.95:1411:720:676:19288:22338 0/1:-1133.01,0,-1328.56:1729:861:851:24162:26565 0/1:-1045.46,0,-1490.12:1772:924:830:23430:28229 . 0/1:-1088.71,0,-1105.62:1548:730:799:22087:22758 1/1:-2668.74,-384.03,0:1409:27:1362:39738:532 1/1:-1721.22,-232.275,0:940:27:892:25461:624 1/1:-2810.89,-393.363,0:1536:47:1464:41558:930 1/1:-1599.08,-235.051,0:865:20:833:23701:440 0/1:-698.598,0,-735.27:1075:515:542:15417:15885 0/1:-1112.31,0,-1248.16:1612:783:808:23017:24540 0/1:-856.869,0,-1183.55:1383:733:631:17974:22786 0/1:-1078.49,0,-1422.25:1653:855:776:22195:26563 0/1:-1099.33,0,-1471.54:1767:916:829:23986:28700 0/1:-968.964,0,-1440.46:1688:894:769:21797:27616 . 0/1:-1952.39,0,-2110.25:2010:1005:979:30140:32209:1005,979 . 0/1:-1603.25,0,-1952.75:1731:912:797:24922:29251:912,797 0/1:-1292.13,0,-1189.9:1240:576:646:19853:18427:576,646 . 1/1:-4449.28,-496.284,0:1742:13:1707:53384:372:13,1707 0/1:-1482.91,0,-1682.16:1578:807:753:23247:25704:807,753 0/1:-1836.19,0,-1920.17:1889:936:935:28731:29850:936,935 1/1:-3930.73,-423.108,0:1582:23:1535:47438:558:23,1535 0/1:-1558.48,0,-1723.14:1649:835:793:24644:26546:835,793 0/1:-1826.72,0,-1762.54:1770:849:898:27890:27218:849,898 0/1:-1420.48,0,-1354.57:1394:661:719:21864:21123:661,719 . 0/1:-1446.51,0,-1671.65:1580:807:756:23103:25526:807,756 0/1:-1466.13,0,-1562.35:1511:755:738:23037:24255:755,738 0/1:-1639.04,0,-1730.83:1671:829:819:25385:26585:829,819 0/1:-1590.28,0,-1822.4:1738:871:845:25487:27811:871,845 0/1:-1350.27,0,-1539.65:1423:730:676:21186:23467:730,676 1/1:-3282.58,-358.526,0:1311:14:1282:39627:377:14,1282 1/1:-4294.22,-443.957,0:1743:35:1682:52315:908:35,1682 chr1 228465031 . G A 8487.37 . AB=0.457271;ABP=24.1651;AC=1;AF=0.5;AN=2;AO=610;CIGAR=1X;DP=1334;DPB=1334;DPRA=0;EPP=55.9942;EPPR=12.8881;GTI=0;LEN=1;MEANALT=3;MQM=31.4754;MQMR=31.7233;NS=1;NUMALT=1;ODDS=1954.29;PAIRED=0.942623;PAIREDR=0.918797;PAO=0;PQA=0;PQR=0;PRO=0;QA=16587;QR=20317;RO=665;RPL=297;RPP=3.92161;RPPR=4.45033;RPR=313;RUN=1;SAF=287;SAP=7.62379;SAR=323;SF=0;SRF=329;SRP=3.1703;SRR=336;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000399361;avsnp147=rs376578848;Kaviar_AF=0.0020504;Kaviar_AC=317;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0005;ExAC_AMR=0.0026;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0031;ExAC_OTH=0.0014;ExAC_SAS=0.0014;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4074;dpsi_zscore=-0.992;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-863.253,0,-1113.41:1334:665:610:16587:20317 . . . . . . . . . . . . . . . . . . . . . chr1 228465346 . A G 14373.14 . AB=0.469248;ABP=13.8281;AC=89;AF=0.5;AN=148;AO=618;CIGAR=1X;DP=116461;DPB=1317;DPRA=0;EPP=51.9352;EPPR=10.7098;GTI=0;LEN=1;MEANALT=3;MQM=29.6408;MQMR=32.2039;NS=1;NUMALT=1;ODDS=1804.43;PAIRED=0.867314;PAIREDR=0.844302;PAO=0;PQA=0;PQR=0;PRO=0;QA=16820;QR=17192;RO=623;RPL=402;RPP=124.571;RPPR=17.7366;RPR=216;RUN=1;SAF=278;SAP=16.517;SAR=340;SF=0,1;SRF=276;SRP=20.5808;SRR=347;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon29:c.A8020G:p.N2674D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.330072;avsnp147=rs493945;Kaviar_AF=0.303961;Kaviar_AC=46993;Kaviar_AN=154602;ExAC_ALL=0.4609;ExAC_AFR=0.4827;ExAC_AMR=0.5538;ExAC_EAS=0.5253;ExAC_FIN=0.5455;ExAC_NFE=0.5114;ExAC_OTH=0.4653;ExAC_SAS=0.2767;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1e-37;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.109;CADD_raw=3.591;CADD_phred=23.2;DANN_score=0.990;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.007;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.958;SiPhy_29way_logOdds=13.940;GDI_full_10282015=.;dpsi_max_tissue=5.8719;dpsi_zscore=2.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3659;gnomAD_exome_AFR=0.3758;gnomAD_exome_AMR=0.4011;gnomAD_exome_ASJ=0.3863;gnomAD_exome_EAS=0.4025;gnomAD_exome_FIN=0.3771;gnomAD_exome_NFE=0.3862;gnomAD_exome_OTH=0.3704;gnomAD_exome_SAS=0.2318;gnomAD_genome_ALL=0.3806;gnomAD_genome_AFR=0.3737;gnomAD_genome_AMR=0.4212;gnomAD_genome_ASJ=0.3576;gnomAD_genome_EAS=0.3942;gnomAD_genome_FIN=0.3894;gnomAD_genome_NFE=0.3808;gnomAD_genome_OTH=0.3592;Whole_Blood=Whole_Blood::0.367209::0.272227;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-809.678,0,-907.785:1317:623:618:16820:17192 1/1:-3140.18,-470.499,0:1706:17:1650:44843:454 0/1:-928.122,0,-826.952:1376:607:691:18804:16558 . . 1/1:-4105.19,-588.043,0:2151:24:2089:57596:636 1/1:-2412.29,-348.878,0:1275:16:1238:34219:374 1/1:-3343.86,-489.585,0:1788:20:1729:47398:564 0/1:-959.966,0,-1126.35:1563:776:716:19239:21471 0/1:-1092.17,0,-1073.7:1681:767:814:22103:21071 1/1:-2480.69,-368.83,0:1368:19:1315:35537:478 . 0/1:-993.065,0,-976.45:1562:730:763:20440:19511 0/1:-871.526,0,-821.075:1364:633:664:18171:17158 . . 1/1:-2127.92,-321.408,0:1172:13:1125:30526:344 . . . 0/1:-723.73,0,-815.06:1119:535:530:14492:15316 . 0/1:-520.35,0,-544.962:909:426:437:11461:11378 0/1:-1463.82,0,-1387.53:2186:1003:1078:29414:28022 . 0/1:-828.617,0,-746.976:1276:564:642:17092:15776 . . 1/1:-2092.7,-334.464,0:1223:11:1174:31218:295 . . 0/1:-1234.68,0,-1303:1947:930:920:25145:25161 . 0/1:-1200.3,0,-1075.82:1815:804:919:24958:22467 . 0/1:-1260.99,0,-1295.97:1917:899:923:25066:25159 0/1:-1253.67,0,-1570.62:2250:1100:1011:27173:30403 1/1:-2574.94,-383.72,0:1386:12:1338:36037:327 1/1:-2914.09,-431.565,0:1564:16:1519:41765:383 0/1:-766.547,0,-770.005:1220:561:591:16049:15160 0/1:-1137.22,0,-1121.32:1741:808:851:23321:22152 . . 0/1:-897.484,0,-1060.53:1495:724:688:18400:19845 0/1:-1218.92,0,-1272.34:1873:875:896:24219:24103 . 0/1:-972.881,0,-1142.27:1610:785:745:20352:21550 0/1:-590.051,0,-637.741:909:433:445:12004:12234 . . . 0/1:-900.066,0,-960.095:1535:714:736:19719:19653 0/1:-1223.88,0,-1420.54:1916:952:859:23997:25924 . 0/1:-690.32,0,-732.506:1172:564:545:14713:15429 . . 0/1:-553.812,0,-715.127:1060:527:493:13122:13811 0/1:-727.445,0,-802.891:1164:554:556:14985:15003 0/1:-1143.41,0,-1031.71:1765:795:891:23754:21640 0/1:-628.217,0,-661.639:1115:510:518:13972:13945 . 0/1:-1143.1,0,-1069.16:1640:759:802:22210:20557 0/1:-690.059,0,-774.224:1185:573:537:14465:15082 0/1:-1357.85,0,-1271.41:2030:918:991:27038:25153 . 0/1:-629.353,0,-450.318:887:358:479:12816:9624 1/1:-2741.38,-397.287,0:1491:26:1429:39002:655 1/1:-2778.91,-410.437,0:1483:13:1435:39434:377 0/1:-1000.01,0,-1080.83:1667:791:781:20832:21328 1/1:-3008.38,-453.407,0:1623:19:1570:43061:402 0/1:-1309.22,0,-1249.65:1944:897:941:25887:24824 0/1:-1157.32,0,-1228.98:1805:865:842:23707:23902 0/1:-564.769,0,-516.738:1007:428:511:12872:11574 . . 0/1:-1168.51,0,-1281.86:1903:920:886:23971:24142 . 0/1:-611.004,0,-620.453:966:447:455:12715:12332 0/1:-611.807,0,-718.906:1009:492:466:12811:13915 1/1:-3391.52,-509.007,0:1808:9:1747:47154:249 0/1:-1372.05,0,-1170.08:1974:914:980:26823:24446 0/1:-1143.87,0,-1246.72:1939:908:930:25215:24362 . 0/1:-975.524,0,-943.878:1535:708:741:20016:18894 0/1:-935.905,0,-986.008:1532:751:711:19432:20265 0/1:-767.51,0,-761.013:1157:548:559:15212:14911 1/1:-2945.44,-454.117,0:1614:13:1560:42659:315 1/1:-1681.2,-237.177,0:885:13:858:23472:337 0/1:-873.966,0,-937.939:1441:677:692:18442:18466 0/1:-1257.48,0,-1544.94:2101:1031:949:26048:28262 0/1:-1133.79,0,-977.534:1565:693:771:21290:19246 0/1:-1133.24,0,-1383.77:1902:925:877:24164:25183 . 0/1:-1180.58,0,-1261.01:1871:880:893:23841:23921 . 0/1:-2159.41,0,-1984.4:2101:991:1072:33164:30861:991,1072 . . 0/1:-1260.5,0,-1239.58:1315:637:656:19932:19450:637,656 . . . 0/1:-1878.73,0,-1987.8:1992:1004:955:29587:30927:1004,955 0/1:-1725.47,0,-1780.62:1802:895:879:27545:27386:895,879 0/1:-2016.46,0,-1760.89:1987:929:1018:31752:28109:929,1018 . . 0/1:-1683.98,0,-1563.08:1686:789:863:26614:24549:789,863 0/1:-1634.03,0,-1702.01:1701:852:817:25650:26272:852,817 . 0/1:-1885.13,0,-1825.8:1925:943:945:29797:28581:943,945 . 0/1:-1497.63,0,-1868.22:1721:909:785:24339:28305:909,785 0/1:-1616.86,0,-1672.85:1661:828:815:25384:25893:828,815 0/1:-2125.5,0,-2037.13:2116:1022:1056:33203:31819:1022,1056 chr1 228465359 . G A 13229.30 . AB=0.454436;ABP=32.8907;AC=1;AF=0.5;AN=2;AO=753;CIGAR=1X;DP=1657;DPB=1657;DPRA=0;EPP=95.4089;EPPR=173.378;GTI=0;LEN=1;MEANALT=3;MQM=38.166;MQMR=38.5158;NS=1;NUMALT=1;ODDS=3046.17;PAIRED=0.929615;PAIREDR=0.887719;PAO=0;PQA=0;PQR=0;PRO=0;QA=21886;QR=26428;RO=855;RPL=400;RPP=9.38053;RPPR=13.7407;RPR=353;RUN=1;SAF=313;SAP=49.5225;SAR=440;SF=1;SRF=384;SRP=22.2335;SRR=471;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon29:c.G8033A:p.R2678H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769763043;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=6.229e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.28;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.315;CADD_raw=5.982;CADD_phred=27.8;DANN_score=0.999;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.883;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=17.357;GDI_full_10282015=.;dpsi_max_tissue=-1.9788;dpsi_zscore=-1.894;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.916e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.905e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.278e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1347.27,0,-1713.27:1657:855:753:21886:26428:855,753 . . . . . . . . . . . . . . . . . . chr1 228465370 . T G 16961.67 . AB=0.502191;ABP=3.05788;AC=146;AF=0.5;AN=202;AO=573;CIGAR=1X;DP=140165;DPB=1141;DPRA=0;EPP=16.2021;EPPR=8.46488;GTI=0;LEN=1;MEANALT=3;MQM=28.4764;MQMR=31.5028;NS=1;NUMALT=1;ODDS=1551.47;PAIRED=0.883072;PAIREDR=0.816514;PAO=0;PQA=0;PQR=0;PRO=0;QA=15239;QR=14397;RO=545;RPL=362;RPP=89.4182;RPPR=130.673;RPR=211;RUN=1;SAF=209;SAP=94.0568;SAR=364;SF=0,1;SRF=243;SRP=16.8798;SRR=302;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.669529;avsnp147=rs867599;Kaviar_AF=0.655761;Kaviar_AC=101382;Kaviar_AN=154602;ExAC_ALL=0.7209;ExAC_AFR=0.7637;ExAC_AMR=0.7787;ExAC_EAS=0.7850;ExAC_FIN=0.8019;ExAC_NFE=0.7351;ExAC_OTH=0.6969;ExAC_SAS=0.5538;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.5418;dpsi_zscore=2.793;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6904;gnomAD_exome_AFR=0.7334;gnomAD_exome_AMR=0.7421;gnomAD_exome_ASJ=0.6227;gnomAD_exome_EAS=0.7574;gnomAD_exome_FIN=0.7808;gnomAD_exome_NFE=0.6986;gnomAD_exome_OTH=0.6741;gnomAD_exome_SAS=0.5120;gnomAD_genome_ALL=0.7303;gnomAD_genome_AFR=0.7383;gnomAD_genome_AMR=0.7410;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.7373;gnomAD_genome_FIN=0.7900;gnomAD_genome_NFE=0.7141;gnomAD_genome_OTH=0.7082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-708.225,0,-696.182:1141:545:573:15239:14397 1/1:-2495.87,-374.632,0:1407:33:1357:37455:592 1/1:-2149.69,-321.625,0:1201:27:1158:31456:509 0/1:-539.259,0,-514.236:862:407:435:11627:10501 0/1:-1064.74,0,-772.952:1504:668:812:21166:17213 0/1:-1276.86,0,-1085.54:1887:874:984:26193:23684 1/1:-1909.85,-279.968,0:1016:17:989:27950:320 1/1:-2669.8,-401.537,0:1504:34:1451:39733:718 1/1:-2537.43,-357.997,0:1350:31:1305:36455:697 1/1:-2511.46,-350.293,0:1422:49:1359:37513:1020 1/1:-2029.9,-300.21,0:1160:32:1116:31002:630 0/1:-1152.27,0,-731.82:1434:605:809:21391:15733 1/1:-2462.81,-373.954,0:1354:25:1313:35817:506 1/1:-2003.05,-294.762,0:1133:28:1096:30607:586 . 0/1:-1318.91,0,-1205.55:1947:914:1003:27034:24589 1/1:-1766.28,-269.352,0:993:17:955:26420:363 . 0/1:-834.551,0,-824.093:1226:598:614:16822:15919 . 1/1:-1729.53,-246.984,0:909:19:880:25189:373 0/1:-1150.35,0,-725.348:1506:628:844:22346:16270 0/1:-480.39,0,-415.152:814:368:439:11055:9547 1/1:-3405.97,-500.302,0:1830:38:1773:50107:659 . 1/1:-1861.12,-279.446,0:1058:21:1014:27646:430 . 1/1:-2272.14,-315.806,0:1189:23:1149:32706:478 1/1:-1726.76,-278.316,0:1051:32:1005:27189:594 1/1:-2098.81,-295.63,0:1124:25:1077:30001:531 1/1:-1955.78,-285.852,0:1042:20:1010:28061:422 0/1:-1064.58,0,-991.199:1662:794:844:22857:20671 0/1:-1122.63,0,-922.449:1653:749:874:22711:19772 1/1:-2933.71,-432.876,0:1631:41:1575:43410:807 0/1:-1013.45,0,-719.198:1343:593:727:19287:15773 1/1:-2983.57,-419.82,0:1624:35:1555:43971:736 1/1:-3678.26,-548.258,0:2007:38:1938:54015:733 1/1:-2199.62,-324.122,0:1151:14:1127:32170:287 1/1:-2416.77,-359.851,0:1365:31:1315:36168:619 0/1:-694.116,0,-595.295:1080:495:566:15379:12950 1/1:-2825.89,-420.294,0:1508:25:1465:41243:424 . . 0/1:-780.747,0,-844.85:1324:658:641:17293:17000 0/1:-1148.51,0,-904.658:1640:733:891:23469:19441 . 1/1:-2585.33,-385.77,0:1379:19:1344:37404:360 1/1:-1491.65,-221.557,0:814:17:781:21491:309 . . 1/1:-3045.3,-420.594,0:1646:49:1578:43468:912 1/1:-2294.4,-356.114,0:1327:29:1276:35073:600 0/1:-977.645,0,-1106.22:1637:827:791:20856:21653 . 1/1:-1761,-278.174,0:1007:18:972:26848:296 0/1:-782.575,0,-655.737:1134:506:611:16012:13433 0/1:-1125.93,0,-1025.92:1685:790:872:23468:20989 0/1:-525.291,0,-509.451:895:420:459:11892:10986 0/1:-679.564,0,-608.303:1025:465:542:14619:12370 1/1:-2717.75,-393.659,0:1530:43:1475:41182:946 0/1:-553.06,0,-512.447:974:449:500:13135:11411 0/1:-1320.16,0,-1043.2:1889:850:1004:26113:22450 0/1:-1084.26,0,-920.047:1531:700:802:21849:18528 0/1:-603.312,0,-581.167:1006:480:510:13344:12133 1/1:-3018.28,-429.911,0:1659:44:1593:44639:899 1/1:-2923.64,-426.121,0:1558:23:1509:42366:497 0/1:-530.646,0,-315.121:736:287:433:11213:7536 1/1:-2311.2,-342.063,0:1293:28:1246:34820:538 1/1:-2368.67,-350.428,0:1304:25:1264:35436:494 0/1:-914.551,0,-848.367:1524:710:783:20116:18424 1/1:-2449.26,-378.685,0:1424:41:1362:37479:712 1/1:-3021.82,-439.306,0:1662:43:1594:44229:788 1/1:-2899.94,-426.3,0:1560:28:1506:42197:505 0/1:-551.584,0,-367.776:899:370:506:12740:9531 0/1:-815.49,0,-616.773:1112:506:583:15820:13003 0/1:-1293.91,0,-991.591:1808:793:987:26149:21041 0/1:-982.363,0,-1049.01:1650:804:829:21295:20773 0/1:-1214.9,0,-976.24:1719:790:895:24408:20539 1/1:-1576.56,-236.745,0:869:17:845:23695:363 1/1:-1552.32,-218.066,0:855:30:817:22835:606 . 0/1:-1107.85,0,-941.471:1700:785:883:22949:20705 0/1:-1009.77,0,-974.449:1721:806:889:23465:20679 . 0/1:-812.8,0,-765.975:1318:623:667:17569:16434 1/1:-2320.97,-334.986,0:1301:37:1245:35241:669 1/1:-1800.76,-255.181,0:968:24:932:25668:475 1/1:-2528.8,-387.57,0:1419:32:1371:37971:571 1/1:-1401.71,-206.429,0:762:16:738:20394:253 0/1:-824.727,0,-639.221:1238:544:671:17771:13971 0/1:-1175.1,0,-1119.93:1825:855:940:25064:22436 0/1:-998.043,0,-763:1352:604:730:19528:16182 0/1:-1058.35,0,-1022.89:1662:774:859:22880:20841 0/1:-1233.45,0,-859.615:1665:729:905:24111:19121 0/1:-1069.18,0,-1005.08:1614:769:811:21971:20112 . 0/1:-1823.8,0,-1528.07:1756:832:920:28659:24993:832,920 . 0/1:-1868.79,0,-1478.41:1751:805:943:29080:24249:805,943 0/1:-1152.74,0,-1042.55:1165:563:600:18375:16855:563,600 0/0:0,-300.097,-3358.77:1533:1432:98:1878:42337:1432,98 1/1:-4402.49,-483.363,0:1709:19:1686:53503:387:19,1686 0/1:-1453.09,0,-1404.73:1469:724:742:22927:21905:724,742 0/1:-1652.24,0,-1597.01:1704:851:844:26417:25503:851,844 0/1:-1408.52,0,-1361.29:1489:747:735:23029:21798:747,735 0/1:-1719.26,0,-1326.62:1657:764:880:27637:22188:764,880 0/1:-1726.41,0,-1438.82:1669:795:869:27137:23395:795,869 0/1:-1267.27,0,-1087.92:1227:591:632:19736:17755:591,632 1/1:-3498.73,-365.761,0:1392:25:1362:43449:615:25,1362 0/1:-1348.99,0,-1350.7:1427:723:700:21495:21453:723,700 0/1:-1855.14,0,-1517.91:1764:822:938:29234:24887:822,938 0/1:-1655.62,0,-1493.28:1654:805:845:26536:24101:805,845 0/1:-1607.68,0,-1477.56:1651:815:832:25793:24054:815,832 0/1:-1300.35,0,-1404.15:1442:745:694:21435:22098:745,694 1/1:-3359.4,-366.38,0:1317:15:1298:41426:351:15,1298 1/1:-4247.63,-446.273,0:1681:27:1649:52564:733:27,1649 chr1 228465427 . G A 5587.90 . AB=0.429547;ABP=53.4956;AC=1;AF=0.5;AN=2;AO=503;CIGAR=1X;DP=1171;DPB=1171;DPRA=0;EPP=221.561;EPPR=109.369;GTI=0;LEN=1;MEANALT=3;MQM=28.0477;MQMR=28.5343;NS=1;NUMALT=1;ODDS=1286.66;PAIRED=0.755467;PAIREDR=0.750419;PAO=0;PQA=0;PQR=0;PRO=0;QA=13769;QR=18239;RO=597;RPL=225;RPP=15.1369;RPPR=6.97133;RPR=278;RUN=1;SAF=191;SAP=66.2161;SAR=312;SF=0;SRF=214;SRP=106.895;SRR=383;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0042;esp6500siv2_ea=.;esp6500siv2_all=0.0042;esp6500siv2_ea=.;1000g2015aug_all=0.00259585;avsnp147=rs185538976;Kaviar_AF=0.0009185;Kaviar_AC=142;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0126;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=6.294e-05;ExAC_OTH=0.0012;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3781;dpsi_zscore=1.722;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.216e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0102;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.671e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-598.685,0,-904.89:1171:597:503:13769:18239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228466650 . G A 6152.72 . AB=0.469333;ABP=9.13675;AC=1;AF=0.5;AN=2;AO=352;CIGAR=1X;DP=750;DPB=750;DPRA=0;EPP=18.4327;EPPR=50.2071;GTI=0;LEN=1;MEANALT=3;MQM=37.125;MQMR=39.0787;NS=1;NUMALT=1;ODDS=1416.72;PAIRED=0.946023;PAIREDR=0.939633;PAO=0;PQA=0;PQR=0;PRO=0;QA=10325;QR=11656;RO=381;RPL=232;RPP=80.3937;RPPR=94.936;RPR=120;RUN=1;SAF=131;SAP=52.9788;SAR=221;SF=1;SRF=125;SRP=100.818;SRR=256;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon26:c.G7120A:p.V2374M,OBSCN:NM_052843:exon26:c.G7120A:p.V2374M,OBSCN:NM_001271223:exon31:c.G8407A:p.V2803M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs569176475;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=7.494e-05;ExAC_AFR=0.0001;ExAC_AMR=8.664e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.38;MutationAssessor_pred=M;FATHMM_score=2.39;FATHMM_pred=T;PROVEAN_score=-2.35;PROVEAN_pred=N;VEST3_score=0.413;CADD_raw=5.169;CADD_phred=25.5;DANN_score=0.981;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.641;MetaSVM_pred=T;MetaLR_score=0.159;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=3.66;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.977;phastCons20way_mammalian=0.961;SiPhy_29way_logOdds=13.782;GDI_full_10282015=.;dpsi_max_tissue=0.5117;dpsi_zscore=1.144;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.671e-05;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.316e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.468e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-637.599,0,-761.73:750:381:352:10325:11656:381,352 . . . . . . . . . . . . . . . chr1 228466862 . C T 3268.06 . AB=0.396129;ABP=75.6383;AC=8;AF=0.5;AN=16;AO=307;CIGAR=1X;DP=5542;DPB=775;DPRA=0;EPP=21.4077;EPPR=86.9999;GTI=0;LEN=1;MEANALT=3;MQM=31.5765;MQMR=33.3357;NS=1;NUMALT=1;ODDS=768.249;PAIRED=0.960912;PAIREDR=0.94964;PAO=0;PQA=0;PQR=0;PRO=0;QA=7594;QR=12297;RO=417;RPL=129;RPP=19.9931;RPPR=29.2606;RPR=178;RUN=1;SAF=207;SAP=83.9914;SAR=100;SF=0;SRF=268;SRP=76.7518;SRR=149;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0286;esp6500siv2_ea=0.0331;esp6500siv2_all=0.0286;esp6500siv2_ea=0.0331;1000g2015aug_all=0.0421326;avsnp147=rs3820627;Kaviar_AF=0.038156;Kaviar_AC=5899;Kaviar_AN=154602;ExAC_ALL=0.0410;ExAC_AFR=0.0193;ExAC_AMR=0.0566;ExAC_EAS=0.0830;ExAC_FIN=0.0514;ExAC_NFE=0.0370;ExAC_OTH=0.0364;ExAC_SAS=0.0322;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6521;dpsi_zscore=1.273;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0411;gnomAD_exome_AFR=0.0171;gnomAD_exome_AMR=0.0531;gnomAD_exome_ASJ=0.0312;gnomAD_exome_EAS=0.0830;gnomAD_exome_FIN=0.0522;gnomAD_exome_NFE=0.0355;gnomAD_exome_OTH=0.0394;gnomAD_exome_SAS=0.0313;gnomAD_genome_ALL=0.0359;gnomAD_genome_AFR=0.0167;gnomAD_genome_AMR=0.0585;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0764;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0363;gnomAD_genome_OTH=0.0438;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-356.623,0,-712.799:775:417:307:7594:12297 . . . 0/1:-632.606,0,-746.326:1020:466:492:12103:13591 . . . . 0/1:-298.673,0,-596.305:647:361:254:6511:10421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-190.949,0,-450.175:491:268:191:4617:7952 . . . . . . . . . . . . . 0/1:-394.69,0,-662.704:794:404:333:8189:11598 0/1:-289.705,0,-494.377:543:288:227:5844:8537 . 0/1:-408.782,0,-691.857:810:425:338:8251:12414 . . . . . . . 0/1:-236.286,0,-359.26:462:229:201:4867:6768 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228466908 . G A 11720.30 . AB=0.467885;ABP=19.1893;AC=1;AF=0.5;AN=2;AO=845;CIGAR=1X;DP=1806;DPB=1806;DPRA=0;EPP=15.9646;EPPR=21.7722;GTI=0;LEN=1;MEANALT=3;MQM=32.1988;MQMR=33.1624;NS=1;NUMALT=1;ODDS=2698.7;PAIRED=0.889941;PAIREDR=0.871495;PAO=0;PQA=0;PQR=0;PRO=0;QA=22853;QR=26199;RO=856;RPL=240;RPP=345.371;RPPR=373.185;RPR=605;RUN=1;SAF=514;SAP=89.07;SAR=331;SF=0;SRF=532;SRP=112.761;SRR=324;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon27:c.G7159A:p.D2387N,OBSCN:NM_052843:exon27:c.G7159A:p.D2387N,OBSCN:NM_001271223:exon32:c.G8446A:p.D2816N;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.13;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.71;MutationAssessor_pred=M;FATHMM_score=0.94;FATHMM_pred=T;PROVEAN_score=-2.88;PROVEAN_pred=D;VEST3_score=0.265;CADD_raw=4.883;CADD_phred=24.9;DANN_score=0.998;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.495;MetaSVM_pred=T;MetaLR_score=0.287;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.970;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=17.163;GDI_full_10282015=.;dpsi_max_tissue=0.0937;dpsi_zscore=0.464;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-1225.75,0,-1462.65:1806:856:845:22853:26199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228467072 . C G 9033.61 . AB=0.465377;ABP=13.2352;AC=1;AF=0.5;AN=2;AO=457;CIGAR=1X;DP=982;DPB=982;DPRA=0;EPP=3.24313;EPPR=22.5451;GTI=0;LEN=1;MEANALT=3;MQM=39.442;MQMR=40.0506;NS=1;NUMALT=1;ODDS=2080.07;PAIRED=0.960613;PAIREDR=0.955253;PAO=0;PQA=0;PQR=0;PRO=0;QA=14518;QR=16327;RO=514;RPL=332;RPP=206.611;RPPR=57.9139;RPR=125;RUN=1;SAF=150;SAP=120.132;SAR=307;SF=1;SRF=159;SRP=165.305;SRR=355;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon27:c.C7323G:p.T2441T,OBSCN:NM_052843:exon27:c.C7323G:p.T2441T,OBSCN:NM_001271223:exon32:c.C8610G:p.T2870T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0074;esp6500siv2_ea=0.0101;esp6500siv2_all=0.0074;esp6500siv2_ea=0.0101;1000g2015aug_all=0.00299521;avsnp147=rs185248802;Kaviar_AF=0.0089197;Kaviar_AC=1379;Kaviar_AN=154602;ExAC_ALL=0.0096;ExAC_AFR=0.0014;ExAC_AMR=0.0032;ExAC_EAS=0;ExAC_FIN=0.0302;ExAC_NFE=0.0132;ExAC_OTH=0.0034;ExAC_SAS=0.0019;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1253;dpsi_zscore=-0.521;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0095;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0314;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0103;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0142;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0301;gnomAD_genome_NFE=0.0206;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-944.985,0,-1110.26:982:514:457:14518:16327:514,457 . . . . . . . . . . . . . chr1 228467095 . T C,G 6192.97 . AB=0.538213;ABP=14.7933;AC=2,0;AF=0.5;AN=18;AO=500;CIGAR=1X;DP=7565;DPB=929;DPRA=0;EPP=39.769;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=32.384;MQMR=32.7206;NS=1;NUMALT=1;ODDS=771.195;PAIRED=0.982;PAIREDR=0.938235;PAO=0;PQA=0;PQR=0;PRO=0;QA=13563;QR=8400;RO=340;RPL=287;RPP=26.7923;RPPR=50.2462;RPR=213;RUN=1;SAF=95;SAP=420.367;SAR=405;SF=0,1;SRF=65;SRP=284.663;SRR=275;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon27:c.T7346C:p.V2449A,OBSCN:NM_052843:exon27:c.T7346C:p.V2449A,OBSCN:NM_001271223:exon32:c.T8633C:p.V2878A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0089;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0089;1000g2015aug_all=0.00219649;avsnp147=rs200720682;Kaviar_AF=0.0052328;Kaviar_AC=809;Kaviar_AN=154602;ExAC_ALL=0.0052;ExAC_AFR=0.0007;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0.0093;ExAC_NFE=0.0071;ExAC_OTH=0.0046;ExAC_SAS=0.0038;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.036;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.894;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.81;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_pred=T;PROVEAN_score=-2.69;PROVEAN_pred=D;VEST3_score=0.378;CADD_raw=2.990;CADD_phred=22.2;DANN_score=0.910;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.578;MetaSVM_pred=T;MetaLR_score=0.200;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.47;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.827;SiPhy_29way_logOdds=14.048;GDI_full_10282015=.;dpsi_max_tissue=0.0481;dpsi_zscore=0.289;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0081;gnomAD_exome_NFE=0.0078;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0032;gnomAD_genome_ALL=0.0053;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0080;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon27:c.T7346G:p.V2449G,OBSCN:NM_052843:exon27:c.T7346G:p.V2449G,OBSCN:NM_001271223:exon32:c.T8633G:p.V2878G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.984;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.81;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_pred=T;PROVEAN_score=-4.66;PROVEAN_pred=D;VEST3_score=0.579;CADD_raw=3.503;CADD_phred=23.1;DANN_score=0.969;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.377;MetaSVM_pred=T;MetaLR_score=0.290;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.47;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.827;SiPhy_29way_logOdds=14.048;GDI_full_10282015=.;dpsi_max_tissue=-0.0322;dpsi_zscore=-0.177;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-792.243,0,-384.189,.,.,.:929:340:500,.:13563,.:8400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,.,.,-268.534,.,-2622.61:1208:1132:.,62:.,1033:31833:1132,62 . . 0/0:0,.,.,-149.626,.,-1469.9:684:638:.,38:.,602:17728:638,38 0/0:0,.,.,-160.884,.,-1709.06:813:742:.,57:.,944:20948:742,57 . . 0/0:0,.,.,-191.416,.,-1852.95:871:810:.,48:.,790:22466:810,48 0/0:0,.,.,-173.531,.,-1699.61:816:757:.,51:.,851:20657:757,51 . . 0/1:-657.697,0,-646.303,.,.,.:717:350:334,.:10163,.:9820:350,334 0/0:0,.,.,-165.469,.,-1678.15:796:740:.,44:.,822:20320:740,44 . . . . . 0/0:0,.,.,-169.601,.,-1631.92:731:687:.,37:.,610:19480:687,37 . chr1 228467162 . C T 1438.08 . AB=0.462527;ABP=8.70635;AC=2;AF=0.5;AN=4;AO=216;CIGAR=1X;DP=699;DPB=467;DPRA=0;EPP=28.1431;EPPR=4.81373;GTI=0;LEN=1;MEANALT=3;MQM=28.1898;MQMR=30.9703;NS=1;NUMALT=1;ODDS=465.683;PAIRED=0.990741;PAIREDR=0.987288;PAO=0;PQA=0;PQR=0;PRO=0;QA=5619;QR=6920;RO=236;RPL=140;RPP=44.1879;RPPR=12.4323;RPR=76;RUN=1;SAF=11;SAP=381.369;SAR=205;SF=0;SRF=11;SRP=424.386;SRR=225;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0204;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0204;esp6500siv2_ea=0.0018;1000g2015aug_all=0.0255591;avsnp147=rs114035875;Kaviar_AF=0.0082211;Kaviar_AC=1271;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0858;ExAC_AMR=0.0042;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.004;ExAC_SAS=0.0046;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0053;dpsi_zscore=0.037;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0077;gnomAD_exome_AFR=0.0808;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0061;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0070;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0219;gnomAD_genome_AFR=0.0740;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-262.134,0,-377.632:467:236:216:5619:6920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-123.064,0,-212.89:232:125:99:2581:3813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228467711 . G A 11594.91 . AB=0.469289;ABP=21.5499;AC=9;AF=0.5;AN=18;AO=1062;CIGAR=1X;DP=14995;DPB=2263;DPRA=0;EPP=10.8701;EPPR=31.0293;GTI=0;LEN=1;MEANALT=3;MQM=32.9407;MQMR=33.8011;NS=1;NUMALT=1;ODDS=3717.84;PAIRED=0.899247;PAIREDR=0.887097;PAO=0;PQA=0;PQR=0;PRO=0;QA=29997;QR=33740;RO=1116;RPL=644;RPP=107.445;RPPR=132.528;RPR=418;RUN=1;SAF=504;SAP=8.97265;SAR=558;SF=0;SRF=515;SRP=17.4012;SRR=601;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon28:c.G7586A:p.R2529Q,OBSCN:NM_052843:exon28:c.G7586A:p.R2529Q,OBSCN:NM_001271223:exon33:c.G8873A:p.R2958Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0184;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0184;1000g2015aug_all=0.0836661;avsnp147=rs3795783;Kaviar_AF=0.0425803;Kaviar_AC=6583;Kaviar_AN=154602;ExAC_ALL=0.0747;ExAC_AFR=0.0301;ExAC_AMR=0.0167;ExAC_EAS=0.4141;ExAC_FIN=0.0967;ExAC_NFE=0.0370;ExAC_OTH=0.0607;ExAC_SAS=0.0613;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.638;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.96;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.075;MutationAssessor_pred=L;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=-1.81;PROVEAN_pred=N;VEST3_score=0.398;CADD_raw=3.250;CADD_phred=22.8;DANN_score=0.997;fathmm-MKL_coding_score=0.145;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=3.54;phyloP7way_vertebrate=0.913;phyloP20way_mammalian=1.043;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.638;SiPhy_29way_logOdds=5.643;GDI_full_10282015=.;dpsi_max_tissue=-1.1929;dpsi_zscore=-1.576;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0468;gnomAD_exome_AFR=0.0183;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0106;gnomAD_exome_EAS=0.3272;gnomAD_exome_FIN=0.0555;gnomAD_exome_NFE=0.0218;gnomAD_exome_OTH=0.0328;gnomAD_exome_SAS=0.0442;gnomAD_genome_ALL=0.0397;gnomAD_genome_AFR=0.0193;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.3024;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0221;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-1635.43,0,-1927.6:2263:1116:1062:29997:33740 . . . . . . . 0/1:-1248.4,0,-1689.09:1895:962:843:23650:29021 . . . . 0/1:-837.964,0,-1024.87:1210:586:570:15491:18001 . . . 0/1:-1260.45,0,-1493.7:1771:869:830:22827:25971 . . . . . . . . . . . . . . 0/1:-637.312,0,-773.769:941:466:424:11733:13802 . . 0/1:-1238.54,0,-1607:1841:930:834:22857:28155 . . . . 0/1:-833.49,0,-1092.23:1199:588:555:15207:17963 0/1:-1323.75,0,-1368.49:1725:811:846:24327:24654 . . . . . . . . . . . . . . 0/1:-1594.74,0,-1870.06:2150:1057:1016:28388:31743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228467881 . G A 6616.44 . AB=0.446067;ABP=34.1629;AC=1;AF=0.5;AN=2;AO=550;CIGAR=1X;DP=1233;DPB=1233;DPRA=0;EPP=6.56362;EPPR=6.33851;GTI=0;LEN=1;MEANALT=3;MQM=31.0455;MQMR=31.4641;NS=1;NUMALT=1;ODDS=1523.49;PAIRED=0.938182;PAIREDR=0.91866;PAO=0;PQA=0;PQR=0;PRO=0;QA=14032;QR=18878;RO=627;RPL=180;RPP=145.538;RPPR=151.408;RPR=370;RUN=1;SAF=314;SAP=27.0307;SAR=236;SF=0;SRF=367;SRP=42.6613;SRR=260;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon29:c.G7665A:p.A2555A,OBSCN:NM_052843:exon29:c.G7665A:p.A2555A,OBSCN:NM_001271223:exon34:c.G8952A:p.A2984A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000599042;avsnp147=rs200898281;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0013;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0011;ExAC_SAS=0.0010;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0814;dpsi_zscore=-0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0.0024;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.682e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-688.06,0,-1020.6:1233:627:550:14032:18878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228468161 . G A 3303.96 . AB=0.423493;ABP=35.9046;AC=1;AF=0.5;AN=2;AO=274;CIGAR=1X;DP=647;DPB=647;DPRA=0;EPP=82.2611;EPPR=73.217;GTI=0;LEN=1;MEANALT=3;MQM=32.8832;MQMR=34.305;NS=1;NUMALT=1;ODDS=760.766;PAIRED=0.970803;PAIREDR=0.958944;PAO=0;PQA=0;PQR=0;PRO=0;QA=7413;QR=10323;RO=341;RPL=206;RPP=153.936;RPPR=144.385;RPR=68;RUN=1;SAF=45;SAP=271.322;SAR=229;SF=0;SRF=68;SRP=270.624;SRR=273;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs780294271;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=4.612e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.497e-05;ExAC_OTH=0;ExAC_SAS=8.787e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.5295;dpsi_zscore=2.124;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.745e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.951e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.851e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-392.455,0,-623.478:647:341:274:7413:10323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228468244 . G A 2324.13 . AB=0.461702;ABP=8.99802;AC=9;AF=0.5;AN=18;AO=217;CIGAR=1X;DP=3183;DPB=470;DPRA=0;EPP=105.09;EPPR=162.809;GTI=0;LEN=1;MEANALT=3;MQM=30.1567;MQMR=30.0205;NS=1;NUMALT=1;ODDS=678.835;PAIRED=0.990783;PAIREDR=0.97541;PAO=0;PQA=0;PQR=0;PRO=0;QA=6307;QR=7805;RO=244;RPL=119;RPP=7.42329;RPPR=11.0198;RPR=98;RUN=1;SAF=106;SAP=3.26047;SAR=111;SF=0;SRF=120;SRP=3.15269;SRR=124;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G7944A:p.V2648V,OBSCN:NM_052843:exon30:c.G7944A:p.V2648V,OBSCN:NM_001271223:exon35:c.G9231A:p.V3077V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0473;esp6500siv2_ea=0.0183;esp6500siv2_all=0.0473;esp6500siv2_ea=0.0183;1000g2015aug_all=0.113618;avsnp147=rs12061320;Kaviar_AF=0.0530976;Kaviar_AC=8209;Kaviar_AN=154602;ExAC_ALL=0.0571;ExAC_AFR=0.1108;ExAC_AMR=0.0105;ExAC_EAS=0.3421;ExAC_FIN=0.0573;ExAC_NFE=0.0230;ExAC_OTH=0.0411;ExAC_SAS=0.0476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0916;dpsi_zscore=1.575;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0541;gnomAD_exome_AFR=0.1046;gnomAD_exome_AMR=0.0121;gnomAD_exome_ASJ=0.0130;gnomAD_exome_EAS=0.3419;gnomAD_exome_FIN=0.0561;gnomAD_exome_NFE=0.0219;gnomAD_exome_OTH=0.0364;gnomAD_exome_SAS=0.0448;gnomAD_genome_ALL=0.0631;gnomAD_genome_AFR=0.0974;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.3185;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0409;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-313.412,0,-406.01:470:244:217:6307:7805 . . . . . . . 0/1:-295.691,0,-363.074:388:207:177:5616:6660 . . . . 0/1:-189.692,0,-212.547:284:140:135:3905:4294 . . . 0/1:-217.312,0,-330.65:366:191:165:4636:6125 . . . . . . . . . . . . . . 0/1:-181.474,0,-147.844:221:100:114:3330:3200 . . 0/1:-301.305,0,-341.63:387:195:187:5620:6235 . . . . 0/1:-166.63,0,-222.076:242:119:116:3310:3776 0/1:-264.8,0,-344.807:392:201:183:5293:6437 . . . . . . . . . . . . . . 0/1:-312.561,0,-375.336:433:222:199:5786:7066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228468458 . G A 3092.39 . AB=0.441926;ABP=13.3509;AC=57;AF=0.5;AN=98;AO=156;CIGAR=1X;DP=23658;DPB=353;DPRA=0;EPP=8.57818;EPPR=3.63253;GTI=0;LEN=1;MEANALT=3;MQM=27.9231;MQMR=28.7251;NS=1;NUMALT=1;ODDS=303.665;PAIRED=0.884615;PAIREDR=0.883041;PAO=0;PQA=0;PQR=0;PRO=0;QA=3655;QR=4988;RO=171;RPL=132;RPP=165.37;RPPR=195.128;RPR=24;RUN=1;SAF=52;SAP=40.6492;SAR=104;SF=0,1;SRF=66;SRP=22.325;SRR=105;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G8158A:p.V2720M,OBSCN:NM_052843:exon30:c.G8158A:p.V2720M,OBSCN:NM_001271223:exon35:c.G9445A:p.V3149M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2962;esp6500siv2_ea=0.2785;esp6500siv2_all=0.2962;esp6500siv2_ea=0.2785;1000g2015aug_all=0.31889;avsnp147=rs1188697;Kaviar_AF=0.288424;Kaviar_AC=44591;Kaviar_AN=154602;ExAC_ALL=0.3004;ExAC_AFR=0.4028;ExAC_AMR=0.2863;ExAC_EAS=0.2060;ExAC_FIN=0.3870;ExAC_NFE=0.3115;ExAC_OTH=0.2897;ExAC_SAS=0.2283;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.862;Polyphen2_HVAR_pred=P;LRT_score=0.408;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.444;CADD_raw=1.572;CADD_phred=13.70;DANN_score=0.989;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=0.451;phyloP7way_vertebrate=0.067;phyloP20way_mammalian=0.134;phastCons7way_vertebrate=0.336;phastCons20way_mammalian=0.474;SiPhy_29way_logOdds=8.559;GDI_full_10282015=.;dpsi_max_tissue=-0.2002;dpsi_zscore=-0.687;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2947;gnomAD_exome_AFR=0.3907;gnomAD_exome_AMR=0.2927;gnomAD_exome_ASJ=0.2392;gnomAD_exome_EAS=0.2020;gnomAD_exome_FIN=0.3793;gnomAD_exome_NFE=0.3061;gnomAD_exome_OTH=0.2924;gnomAD_exome_SAS=0.2259;gnomAD_genome_ALL=0.3390;gnomAD_genome_AFR=0.3926;gnomAD_genome_AMR=0.2859;gnomAD_genome_ASJ=0.2550;gnomAD_genome_EAS=0.2020;gnomAD_genome_FIN=0.3732;gnomAD_genome_NFE=0.3193;gnomAD_genome_OTH=0.3385;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-161.07,0,-245.344:353:171:156:3655:4988 0/1:-123.404,0,-175.896:263:119:125:2834:3607 0/1:-206.704,0,-262.263:445:209:200:4929:5946 . . . 0/1:-135.901,0,-348.43:402:222:151:3638:6415 0/1:-212.814,0,-328.973:453:221:202:4877:6390 . . 0/1:-173.472,0,-337.676:422:229:169:4247:6718 0/1:-122.386,0,-274.038:370:202:143:3483:5838 . . . . 0/1:-181.441,0,-288.296:413:210:174:4293:6110 . 0/1:-197.368,0,-284.646:396:200:172:4253:5764 0/1:-170.457,0,-321.778:475:256:196:4678:7479 . . . 0/1:-144.688,0,-185.24:334:152:151:3684:4226 . 1/1:-577.039,-95.3168,0:423:10:364:8510:242 . 1/1:-550.718,-93.0611,0:391:10:338:8253:188 1/1:-567.561,-94.3984,0:387:9:346:8201:175 . . 0/1:-278.399,0,-345.77:574:250:276:6424:7233 0/1:-152.741,0,-286.041:389:200:165:3968:5794 0/1:-249.743,0,-365.972:533:247:240:5928:7201 0/1:-376.655,0,-462.314:732:341:330:8040:9857 . . 0/1:-151.611,0,-260.649:387:197:166:3778:5647 0/1:-255.843,0,-321.289:465:222:219:5504:6507 . . . . . 0/1:-234.698,0,-314.772:478:225:209:5171:6538 . . . 0/1:-209.735,0,-380.231:499:260:202:4703:7682 1/1:-611.571,-100.597,0:481:16:401:9442:332 . 1/1:-915.378,-162.084,0:634:13:565:13566:278 0/1:-171.353,0,-209.07:336:162:154:3888:4533 . . . . 0/1:-309.586,0,-415.457:629:301:287:6953:8601 . 0/1:-262.392,0,-343.233:553:269:255:6161:7664 . . 0/1:-288.249,0,-307.104:523:233:246:6135:6859 1/1:-788.964,-128.462,0:542:7:454:11130:116 . . . . . . 0/1:-258.561,0,-335.727:524:252:229:5636:7247 . 0/1:-160.513,0,-249.929:352:174:156:3743:5201 0/1:-304.251,0,-381.729:620:277:292:6998:8155 . 0/1:-273.497,0,-429.173:563:286:245:5880:8476 0/1:-154.954,0,-159.307:295:127:148:3497:3683 0/1:-92.4915,0,-177.921:249:134:100:2348:3858 . . . . . 0/1:-193.445,0,-325.784:468:226:197:4759:6610 0/1:-140.268,0,-178.972:289:144:131:3044:4082 . . . . . . 0/1:-232.77,0,-319.736:521:244:248:5794:7024 . . . 0/1:-537.353,0,-524.669:558:259:283:8288:8188:259,283 0/1:-561.558,0,-721.421:682:358:306:8878:11001:358,306 . . 1/1:-1547.95,-178.1,0:677:7:639:18456:186:7,639 0/1:-526.759,0,-543.888:593:293:284:8094:8780:293,284 . . . 0/1:-610.747,0,-595.438:658:309:332:9475:9297:309,332 0/1:-403.315,0,-432.55:437:208:217:6132:6763:208,217 1/1:-1176.69,-131.506,0:548:12:510:14391:303:12,510 . 0/1:-595.374,0,-614.572:650:308:319:9217:9732:308,319 . 0/1:-546.408,0,-566.302:607:291:294:8476:8836:291,294 . 0/1:-379.401,0,-496.54:451:240:200:5946:7402:240,200 0/1:-581.506,0,-602.42:634:308:311:9264:9480:308,311 chr1 228469801 . G C 8113.16 . AB=0.469355;ABP=13.1252;AC=5;AF=0.5;AN=10;AO=582;CIGAR=1X;DP=5925;DPB=1240;DPRA=0;EPP=7.84574;EPPR=3.35498;GTI=0;LEN=1;MEANALT=3;MQM=31.146;MQMR=32.8206;NS=1;NUMALT=1;ODDS=1931.54;PAIRED=0.87457;PAIREDR=0.85873;PAO=0;PQA=0;PQR=0;PRO=0;QA=16581;QR=18562;RO=630;RPL=367;RPP=89.2125;RPPR=40.2907;RPR=215;RUN=1;SAF=258;SAP=19.2628;SAR=324;SF=0;SRF=273;SRP=27.3308;SRR=357;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.G8365C:p.G2789R,OBSCN:NM_052843:exon31:c.G8365C:p.G2789R,OBSCN:NM_001271223:exon36:c.G9652C:p.G3218R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0219;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0219;1000g2015aug_all=0.0111821;avsnp147=rs150312546;Kaviar_AF=0.0150516;Kaviar_AC=2327;Kaviar_AN=154602;ExAC_ALL=0.0151;ExAC_AFR=0.0037;ExAC_AMR=0.0128;ExAC_EAS=0.0004;ExAC_FIN=0.0075;ExAC_NFE=0.0216;ExAC_OTH=0.0186;ExAC_SAS=0.0074;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_pred=M;FATHMM_score=0.76;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_pred=D;VEST3_score=0.691;CADD_raw=5.043;CADD_phred=25.2;DANN_score=0.999;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.453;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.45;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.949;phastCons7way_vertebrate=0.945;phastCons20way_mammalian=0.320;SiPhy_29way_logOdds=17.475;GDI_full_10282015=.;dpsi_max_tissue=0.7786;dpsi_zscore=1.371;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0146;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0141;gnomAD_exome_ASJ=0.0222;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0075;gnomAD_exome_NFE=0.0211;gnomAD_exome_OTH=0.0174;gnomAD_exome_SAS=0.0075;gnomAD_genome_ALL=0.0133;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0214;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-858.165,0,-1027.67:1240:630:582:16581:18562 . . . . . . . . . . . . . . . 0/1:-546.82,0,-667.286:799:420:367:10444:12166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-473.22,0,-634.918:779:416:347:9703:11992 . . . . . . . . . . . 0/1:-898.411,0,-1090.79:1309:664:621:17387:19438 . 0/1:-1371.21,0,-1539.93:1798:914:855:24630:26781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228469870 . C T 5210.12 . AB=0.467542;ABP=15.5561;AC=9;AF=0.5;AN=18;AO=641;CIGAR=1X;DP=8736;DPB=1371;DPRA=0;EPP=3.98933;EPPR=15.3087;GTI=0;LEN=1;MEANALT=3;MQM=33.0421;MQMR=32.9452;NS=1;NUMALT=1;ODDS=1941.61;PAIRED=0.940718;PAIREDR=0.90411;PAO=0;PQA=0;PQR=0;PRO=0;QA=16757;QR=20192;RO=657;RPL=466;RPP=289.878;RPPR=360.761;RPR=175;RUN=1;SAF=167;SAP=322.291;SAR=474;SF=0;SRF=152;SRP=414.86;SRR=505;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.C8434T:p.R2812W,OBSCN:NM_052843:exon31:c.C8434T:p.R2812W,OBSCN:NM_001271223:exon36:c.C9721T:p.R3241W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0273;esp6500siv2_ea=0.0178;esp6500siv2_all=0.0273;esp6500siv2_ea=0.0178;1000g2015aug_all=0.0872604;avsnp147=rs3795785;Kaviar_AF=0.0446501;Kaviar_AC=6903;Kaviar_AN=154602;ExAC_ALL=0.0484;ExAC_AFR=0.0466;ExAC_AMR=0.0087;ExAC_EAS=0.2893;ExAC_FIN=0.0593;ExAC_NFE=0.0222;ExAC_OTH=0.0421;ExAC_SAS=0.0524;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.058;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=0.991;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.135;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_pred=T;PROVEAN_score=-4.05;PROVEAN_pred=D;VEST3_score=0.326;CADD_raw=2.777;CADD_phred=21.2;DANN_score=0.926;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.013;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-0.154;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-0.471;phastCons7way_vertebrate=0.870;phastCons20way_mammalian=0.640;SiPhy_29way_logOdds=10.162;GDI_full_10282015=.;dpsi_max_tissue=-0.7968;dpsi_zscore=-1.341;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0468;gnomAD_exome_AFR=0.0439;gnomAD_exome_AMR=0.0098;gnomAD_exome_ASJ=0.0127;gnomAD_exome_EAS=0.2937;gnomAD_exome_FIN=0.0556;gnomAD_exome_NFE=0.0210;gnomAD_exome_OTH=0.0342;gnomAD_exome_SAS=0.0495;gnomAD_genome_ALL=0.0450;gnomAD_genome_AFR=0.0420;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.2823;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0217;gnomAD_genome_OTH=0.0377;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-914.463,0,-1135.7:1371:657:641:16757:20192 . . . . . . . 0/1:-703.454,0,-1103.56:1210:616:535:14126:19335 . . . . 0/1:-400.169,0,-553.586:688:352:302:8001:10642 . . . 0/1:-494.598,0,-1024.23:985:561:387:10102:17520 . . . . . . . . . . . . . . 0/1:-331.933,0,-493.299:534:264:243:6392:8393 . . 0/1:-583.798,0,-1010.23:1050:551:438:11386:17296 . . . . 0/1:-460.717,0,-603.942:693:332:334:8593:10482 0/1:-619.374,0,-1068.91:1073:583:437:12096:18164 . . . . . . . . . . . . . . 0/1:-763.164,0,-927.553:1132:554:535:14293:16920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228469903 . AG TT 2331.48 . AB=0.486405;ABP=4.07307;AC=2;AF=0.5;AN=4;AO=322;CIGAR=2X;DP=1050;DPB=664;DPRA=0;EPP=188.84;EPPR=118.025;GTI=0;LEN=2;MEANALT=11;MQM=29.1025;MQMR=33.2;NS=1;NUMALT=1;ODDS=699.657;PAIRED=0.959627;PAIREDR=0.969492;PAO=1;PQA=32;PQR=42;PRO=3;QA=8332;QR=8493;RO=295;RPL=293;RPP=473.019;RPPR=402.627;RPR=29;RUN=1;SAF=49;SAP=341.382;SAR=273;SF=0;SRF=54;SRP=260.414;SRR=241;TYPE=mnp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=OBSCN:NM_001098623:exon31:c.8467_8468TT,OBSCN:NM_052843:exon31:c.8467_8468TT,OBSCN:NM_001271223:exon36:c.9754_9755TT;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386640014;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-422.619,0,-472.643:662:295:322:8332:8493 . . . . 0/1:-224.574,0,-258.878:388:167:175:4390:4751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228470995 . G T 7325.42 . AB=0.526066;ABP=7.99131;AC=56;AF=0.5;AN=96;AO=444;CIGAR=1X;DP=41014;DPB=844;DPRA=0;EPP=39.1819;EPPR=18.6105;GTI=0;LEN=1;MEANALT=3;MQM=34.4077;MQMR=33.9054;NS=1;NUMALT=1;ODDS=1402.91;PAIRED=0.923423;PAIREDR=0.913043;PAO=0;PQA=0;PQR=0;PRO=0;QA=11896;QR=11583;RO=391;RPL=358;RPP=364.844;RPPR=274.256;RPR=86;RUN=1;SAF=159;SAP=80.6551;SAR=285;SF=0,1;SRF=136;SRP=81.6554;SRR=255;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3080;esp6500siv2_ea=0.2859;esp6500siv2_all=0.3080;esp6500siv2_ea=0.2859;1000g2015aug_all=0.318091;avsnp147=rs1150906;Kaviar_AF=0.217817;Kaviar_AC=33675;Kaviar_AN=154602;ExAC_ALL=0.3453;ExAC_AFR=0.4437;ExAC_AMR=0.3748;ExAC_EAS=0.3027;ExAC_FIN=0.4841;ExAC_NFE=0.3709;ExAC_OTH=0.3190;ExAC_SAS=0.2534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9067;dpsi_zscore=-1.415;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2890;gnomAD_exome_AFR=0.3870;gnomAD_exome_AMR=0.2948;gnomAD_exome_ASJ=0.2404;gnomAD_exome_EAS=0.2011;gnomAD_exome_FIN=0.3768;gnomAD_exome_NFE=0.2972;gnomAD_exome_OTH=0.2827;gnomAD_exome_SAS=0.2266;gnomAD_genome_ALL=0.3393;gnomAD_genome_AFR=0.3950;gnomAD_genome_AMR=0.2876;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.2016;gnomAD_genome_FIN=0.3734;gnomAD_genome_NFE=0.3185;gnomAD_genome_OTH=0.3361;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-699.294,0,-655.99:844:391:444:11896:11583 0/1:-381.621,0,-484.701:561:277:281:7177:8194 0/1:-667.932,0,-772.554:949:468:473:12203:13812 . . . 0/1:-567.62,0,-737.993:823:421:390:10211:12298 0/1:-607.698,0,-880.036:931:487:433:11272:14482 . . 0/1:-417.494,0,-829.028:790:461:323:8415:13354 0/1:-517.087,0,-626.617:732:371:355:9380:10708 . . . . 0/1:-540.25,0,-747.875:795:422:365:9780:12344 . 0/1:-486.9,0,-588.723:697:350:343:8830:10172 0/1:-658.446,0,-735.978:913:433:467:12014:12937 . . . 0/1:-452.469,0,-594.317:714:360:343:8995:10594 . 1/1:-1517.7,-166.452,0:807:48:751:20127:1004 . 1/1:-1415.07,-140.738,0:775:57:711:18961:1138 1/1:-1343.55,-163.373,0:730:37:684:17463:725 . . 0/1:-706.7,0,-956.432:1115:582:523:13236:16767 0/1:-618.853,0,-802.142:894:467:422:11143:13505 0/1:-836.26,0,-851.384:1087:510:566:14922:14962 0/1:-896.538,0,-1188.13:1317:684:622:16668:19959 . . . 0/1:-696.166,0,-839.583:943:490:445:12028:14397 . . . . . 0/1:-608.269,0,-865.31:956:518:427:11410:15062 . . . 0/1:-684.259,0,-1023.4:1054:567:478:12656:16947 1/1:-1593.72,-157.128,0:931:79:843:21682:1574 . 1/1:-2204.85,-243.995,0:1204:73:1120:29106:1463 0/1:-469.755,0,-675.372:737:391:339:8832:11475 . . . . 0/1:-871.357,0,-954.435:1153:561:586:15338:16471 . 0/1:-720.416,0,-1095.04:1148:619:522:13648:18046 . . 0/1:-656.474,0,-984.705:1044:567:470:12208:16986 1/1:-1899.25,-205.539,0:984:61:913:24689:1094 . . . . . . 0/1:-648.346,0,-996.481:996:549:440:11892:16240 . 0/1:-547.033,0,-759.219:793:424:363:9629:12548 0/1:-816.16,0,-1130.93:1251:661:578:15189:19264 . 0/1:-698.905,0,-859.295:995:513:473:12359:14796 0/1:-405.381,0,-591.1:630:338:289:7720:9845 0/1:-330.557,0,-461.891:518:269:247:6306:7746 . . . . . 0/1:-580.289,0,-962.802:984:543:429:11111:15885 0/1:-442.734,0,-579.844:623:324:293:7899:9757 . . . . . . 0/1:-809.153,0,-889.447:1077:523:544:14287:15263 . . . 0/1:-580.707,0,-772.493:674:367:303:9088:11444:367,303 0/1:-654.52,0,-828.136:716:382:332:10077:12111:382,332 . . 1/1:-1711.05,-155.334,0:702:29:668:20459:651:29,668 0/1:-658.239,0,-665.941:666:330:335:9943:10139:330,335 . . . 0/1:-691.773,0,-819.304:725:371:353:10586:12085:371,353 0/1:-585.358,0,-541.057:539:257:281:8593:8148:257,281 1/1:-1561.08,-144.385,0:652:23:628:18656:596:23,628 . 0/1:-673.987,0,-849.568:737:389:344:10387:12364:389,344 . 0/1:-765.872,0,-877.996:818:414:401:11769:13063:414,401 . 0/1:-630.078,0,-619.131:613:304:303:9332:9380:304,303 0/1:-559.708,0,-879.543:677:388:287:8799:12481:388,287 chr1 228471247 . G A 10345.80 . AB=0.429495;ABP=69.7613;AC=1;AF=0.5;AN=2;AO=664;CIGAR=1X;DP=1546;DPB=1546;DPRA=0;EPP=16.4054;EPPR=38.6094;GTI=0;LEN=1;MEANALT=3;MQM=34.6928;MQMR=35.0084;NS=1;NUMALT=1;ODDS=2382.21;PAIRED=0.89006;PAIREDR=0.862275;PAO=0;PQA=0;PQR=0;PRO=0;QA=18942;QR=25327;RO=835;RPL=434;RPP=139.107;RPPR=114.442;RPR=230;RUN=1;SAF=348;SAP=6.35908;SAR=316;SF=0;SRF=424;SRP=3.4498;SRR=411;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon33:c.G8781A:p.V2927V,OBSCN:NM_052843:exon33:c.G8781A:p.V2927V,OBSCN:NM_001271223:exon38:c.G10068A:p.V3356V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.3916;dpsi_zscore=-2.012;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1062.52,0,-1550.36:1546:835:664:18942:25327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228471294 . C T 6689.45 . AB=0.429947;ABP=51.6878;AC=1;AF=0.5;AN=2;AO=491;CIGAR=1X;DP=1142;DPB=1142;DPRA=0;EPP=14.5134;EPPR=52.8014;GTI=0;LEN=1;MEANALT=3;MQM=34.6334;MQMR=35.5109;NS=1;NUMALT=1;ODDS=1540.3;PAIRED=0.89002;PAIREDR=0.926298;PAO=0;PQA=0;PQR=0;PRO=0;QA=12527;QR=17560;RO=597;RPL=247;RPP=3.0501;RPPR=4.61435;RPR=244;RUN=1;SAF=251;SAP=3.54543;SAR=240;SF=0;SRF=301;SRP=3.10123;SRR=296;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon33:c.C8828T:p.A2943V,OBSCN:NM_052843:exon33:c.C8828T:p.A2943V,OBSCN:NM_001271223:exon38:c.C10115T:p.A3372V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs199933567;Kaviar_AF=0.0006468;Kaviar_AC=100;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0001;ExAC_AMR=0.0004;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0034;ExAC_SAS=0.0036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.321;SIFT_pred=T;Polyphen2_HDIV_score=0.935;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.343;Polyphen2_HVAR_pred=B;LRT_score=0.068;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.8;MutationAssessor_pred=L;FATHMM_score=-0.07;FATHMM_pred=T;PROVEAN_score=-1.39;PROVEAN_pred=N;VEST3_score=0.282;CADD_raw=0.639;CADD_phred=8.425;DANN_score=0.993;fathmm-MKL_coding_score=0.589;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.863;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=0.438;phyloP7way_vertebrate=0.868;phyloP20way_mammalian=-0.492;phastCons7way_vertebrate=0.020;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=9.967;GDI_full_10282015=.;dpsi_max_tissue=-0.2612;dpsi_zscore=-0.794;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=6.549e-05;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-680.345,0,-1066.27:1142:597:491:12527:17560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228471379 . G C 14093.18 . AB=0.500888;ABP=3.01801;AC=85;AF=0.5;AN=146;AO=564;CIGAR=1X;DP=105587;DPB=1126;DPRA=0;EPP=14.2373;EPPR=21.3331;GTI=0;LEN=1;MEANALT=3;MQM=31.4167;MQMR=33.7172;NS=1;NUMALT=1;ODDS=1926.08;PAIRED=0.863475;PAIREDR=0.855839;PAO=0;PQA=0;PQR=0;PRO=0;QA=16065;QR=17305;RO=548;RPL=353;RPP=80.6443;RPPR=60.0709;RPR=211;RUN=1;SAF=242;SAP=27.6511;SAR=322;SF=0,1;SRF=240;SRP=21.3331;SRR=308;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon33:c.G8913C:p.R2971R,OBSCN:NM_052843:exon33:c.G8913C:p.R2971R,OBSCN:NM_001271223:exon38:c.G10200C:p.R3400R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3276;esp6500siv2_ea=0.3681;esp6500siv2_all=0.3276;esp6500siv2_ea=0.3681;1000g2015aug_all=0.230232;avsnp147=rs56168609;Kaviar_AF=0.318256;Kaviar_AC=49203;Kaviar_AN=154602;ExAC_ALL=0.3214;ExAC_AFR=0.2431;ExAC_AMR=0.3826;ExAC_EAS=0.1522;ExAC_FIN=0.3253;ExAC_NFE=0.3727;ExAC_OTH=0.3235;ExAC_SAS=0.2052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6805;dpsi_zscore=-1.789;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3258;gnomAD_exome_AFR=0.2479;gnomAD_exome_AMR=0.3825;gnomAD_exome_ASJ=0.3818;gnomAD_exome_EAS=0.1528;gnomAD_exome_FIN=0.3322;gnomAD_exome_NFE=0.3719;gnomAD_exome_OTH=0.3400;gnomAD_exome_SAS=0.2077;gnomAD_genome_ALL=0.3217;gnomAD_genome_AFR=0.2520;gnomAD_genome_AMR=0.3935;gnomAD_genome_ASJ=0.3433;gnomAD_genome_EAS=0.1393;gnomAD_genome_FIN=0.3528;gnomAD_genome_NFE=0.3705;gnomAD_genome_OTH=0.3217;Whole_Blood=Whole_Blood::0.331978::0.351552;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-855.305,0,-977.385:1126:548:564:16065:17305 1/1:-3112.57,-406.159,0:1540:33:1487:42429:725 0/1:-967.272,0,-1439.79:1441:778:636:18461:24138 . . 1/1:-3857.15,-479.919,0:1884:40:1802:51897:1005 1/1:-2611.36,-348.479,0:1326:26:1274:36208:592 1/1:-3472.32,-430.365,0:1679:36:1608:46658:829 0/1:-1008.69,0,-1309.28:1421:725:675:19119:22239 0/1:-1168.07,0,-1352.46:1552:783:742:21128:24004 1/1:-2573.86,-328.152,0:1285:28:1236:35341:685 0/1:-947.966,0,-1328.8:1356:713:626:17587:22155 0/1:-954.835,0,-1369.42:1437:762:653:18351:23833 0/1:-672.739,0,-1132.67:1135:644:473:13908:19783 . . 1/1:-1978.5,-269.639,0:975:15:939:26776:272 . . . 0/1:-778.234,0,-922.287:1070:526:530:14785:16265 . 0/1:-676.111,0,-732.164:924:444:468:13275:13584 0/1:-1403.22,0,-1742.31:1894:973:891:25628:30093 . 0/1:-587.711,0,-954.174:1038:559:453:12277:17166 . . 0/1:-775.321,0,-967.608:1141:580:531:14889:17738 . . 0/1:-1319.21,0,-1383.78:1593:762:810:23443:23863 . 0/1:-1226.2,0,-1488.92:1722:863:820:23143:26359 . 0/1:-1329.21,0,-1501.43:1717:859:833:23795:26090 . 1/1:-2619.18,-332.297,0:1205:17:1167:34396:335 1/1:-2921.87,-381.465,0:1417:21:1378:39187:534 0/1:-852.775,0,-968.619:1115:549:546:15627:16713 0/1:-1287.14,0,-1438.51:1648:805:827:23829:24810 . . 0/1:-1048.82,0,-1232.29:1359:682:651:18459:21054 0/1:-1099.6,0,-1480.24:1573:824:723:20530:25839 . 0/1:-1131.2,0,-1372.73:1542:778:739:21194:23859 0/1:-642.376,0,-703.038:831:414:402:11520:12740 . . . . 0/1:-1427.39,0,-1599.52:1820:891:904:25814:27973 . 0/1:-734.583,0,-981.126:1183:611:544:14547:18626 . . 0/1:-529.473,0,-724.897:882:462:402:11160:14062 0/1:-878.364,0,-835.632:1057:496:543:15620:14890 0/1:-1371.66,0,-1442.67:1718:840:850:24086:25863 0/1:-656.132,0,-856.431:966:507:447:12603:15285 . 0/1:-1155.57,0,-1295.64:1465:720:724:20750:22585 0/1:-730.98,0,-816.594:991:484:493:13631:14907 0/1:-1272.38,0,-1603.75:1754:904:823:23626:28255 . 0/1:-575.972,0,-651.404:835:407:419:11831:12294 0/1:-965.402,0,-1318.07:1424:745:665:18647:23538 1/1:-2941.14,-385.684,0:1425:22:1384:39419:533 0/1:-1126.72,0,-1479.29:1584:817:747:21350:25148 1/1:-2930.17,-374.981,0:1408:25:1367:38998:566 0/1:-1542.97,0,-1902.13:2063:1039:989:27962:32458 0/1:-1161.75,0,-1600.28:1628:859:741:21573:26432 0/1:-579.905,0,-713.653:942:479:449:12468:14164 . . 0/1:-1169.02,0,-1704.36:1755:933:799:22433:28683 0/1:-1259.52,0,-1714.63:1807:942:844:23868:29143 0/1:-618.46,0,-1033.96:986:548:423:11897:16943 0/1:-660.625,0,-758.551:860:421:427:12236:12973 0/1:-1168.83,0,-1278.23:1542:747:775:21871:23190 0/1:-1286,0,-1644.5:1837:946:859:23946:29019 0/1:-1231.38,0,-1654.64:1830:952:853:23810:28765 . 0/1:-1049.41,0,-1279.32:1488:754:705:19690:22921 0/1:-1082.85,0,-1472.83:1536:823:690:19548:25394 0/1:-691.01,0,-987.821:1005:541:452:13149:16873 1/1:-3174.44,-436.396,0:1553:15:1517:42419:378 1/1:-1854.23,-240.485,0:873:13:846:24851:270 0/1:-993.767,0,-1128.3:1307:643:643:18162:19892 0/1:-1339.86,0,-1724.67:1866:955:886:25230:30285 0/1:-1010.92,0,-1209.27:1351:670:664:18831:21006 0/1:-1151.87,0,-1728.8:1768:941:795:22456:29263 . 0/1:-1291.18,0,-1712.26:1791:937:825:23834:28778 . 0/1:-2060.83,0,-1897.72:1902:894:988:30865:28684:894,988 . . 0/1:-1295.12,0,-1490.51:1344:688:641:19986:22040:688,641 . . . 0/1:-1896.13,0,-2168.6:1951:994:930:29045:32293:994,930 0/1:-1782.09,0,-1862.25:1744:878:845:26939:28128:878,845 0/1:-1992.86,0,-2028.05:1916:936:961:29972:30286:936,961 . . . 0/1:-1518.99,0,-1631.33:1500:763:728:23029:24526:763,728 . 0/1:-1723.83,0,-1993.84:1781:919:838:26348:29613:919,838 . 0/1:-1733.6,0,-1900.93:1737:884:828:26264:28380:884,828 0/1:-1513.04,0,-1705.71:1514:775:723:22967:25213:775,723 0/1:-2057.19,0,-2059.83:1952:951:973:30846:30750:951,973 chr1 228474032 . G A 4423.71 . AB=0.474654;ABP=6.64276;AC=1;AF=0.5;AN=2;AO=309;CIGAR=1X;DP=651;DPB=651;DPRA=0;EPP=38.4355;EPPR=8.33041;GTI=0;LEN=1;MEANALT=3;MQM=33.4434;MQMR=33.9156;NS=1;NUMALT=1;ODDS=1018.6;PAIRED=0.941748;PAIREDR=0.871875;PAO=0;PQA=0;PQR=0;PRO=0;QA=8644;QR=9764;RO=320;RPL=198;RPP=56.2008;RPPR=128.521;RPR=111;RUN=1;SAF=91;SAP=116.356;SAR=218;SF=0;SRF=104;SRP=88.132;SRR=216;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon34:c.G9258A:p.S3086S,OBSCN:NM_052843:exon34:c.G9258A:p.S3086S,OBSCN:NM_001271223:exon39:c.G10545A:p.S3515S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0125;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0125;esp6500siv2_ea=0.0028;1000g2015aug_all=0.00958466;avsnp147=rs116080935;Kaviar_AF=0.0034734;Kaviar_AC=537;Kaviar_AN=154602;ExAC_ALL=0.0084;ExAC_AFR=0.0517;ExAC_AMR=0.0123;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0081;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2328;dpsi_zscore=-0.747;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0408;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0304;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.841e-05;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0122;gnomAD_genome_AFR=0.0398;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-470.514,0,-563.495:651:320:309:8644:9764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228475456 . C T 1640.74 . AB=0.476351;ABP=4.44817;AC=1;AF=0.5;AN=2;AO=141;CIGAR=1X;DP=296;DPB=296;DPRA=0;EPP=56.6195;EPPR=22.8288;GTI=0;LEN=1;MEANALT=3;MQM=30.1773;MQMR=31.4648;NS=1;NUMALT=1;ODDS=377.793;PAIRED=0.929078;PAIREDR=0.915493;PAO=0;PQA=0;PQR=0;PRO=0;QA=4002;QR=4072;RO=142;RPL=20;RPP=160.111;RPPR=121.432;RPR=121;RUN=1;SAF=120;SAP=153.951;SAR=21;SF=0;SRF=116;SRP=126.876;SRR=26;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon36:c.C9606T:p.A3202A,OBSCN:NM_052843:exon36:c.C9606T:p.A3202A,OBSCN:NM_001271223:exon41:c.C10893T:p.A3631A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs370954586;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=9.974e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0417;dpsi_zscore=-0.226;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.311e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-210.222,0,-214.158:296:142:141:4002:4072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228475848 . G A 8081.90 . AB=0.379182;ABP=139.434;AC=55;AF=0.5;AN=96;AO=408;CIGAR=1X;DP=49436;DPB=1076;DPRA=0;EPP=7.80031;EPPR=4.42035;GTI=0;LEN=1;MEANALT=3;MQM=32.4926;MQMR=33.875;NS=1;NUMALT=1;ODDS=1179.69;PAIRED=0.889706;PAIREDR=0.902597;PAO=0;PQA=0;PQR=0;PRO=0;QA=11150;QR=18718;RO=616;RPL=224;RPP=11.5259;RPPR=22.3138;RPR=184;RUN=1;SAF=157;SAP=50.0376;SAR=251;SF=0,1;SRF=245;SRP=58.9751;SRR=371;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon37:c.G9898A:p.A3300T,OBSCN:NM_052843:exon37:c.G9898A:p.A3300T,OBSCN:NM_001271223:exon42:c.G11185A:p.A3729T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3055;esp6500siv2_ea=0.2973;esp6500siv2_all=0.3055;esp6500siv2_ea=0.2973;1000g2015aug_all=0.302716;avsnp147=rs437129;Kaviar_AF=0.289078;Kaviar_AC=44692;Kaviar_AN=154602;ExAC_ALL=0.2923;ExAC_AFR=0.3499;ExAC_AMR=0.2816;ExAC_EAS=0.2052;ExAC_FIN=0.3863;ExAC_NFE=0.3041;ExAC_OTH=0.2833;ExAC_SAS=0.2265;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.424;SIFT_pred=T;Polyphen2_HDIV_score=0.968;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_pred=P;LRT_score=0.493;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.22;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_pred=N;VEST3_score=0.22;CADD_raw=4.107;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.363;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.972;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.515;SiPhy_29way_logOdds=10.701;GDI_full_10282015=.;dpsi_max_tissue=0.2618;dpsi_zscore=0.832;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2908;gnomAD_exome_AFR=0.3469;gnomAD_exome_AMR=0.2902;gnomAD_exome_ASJ=0.2390;gnomAD_exome_EAS=0.2017;gnomAD_exome_FIN=0.3788;gnomAD_exome_NFE=0.3017;gnomAD_exome_OTH=0.2916;gnomAD_exome_SAS=0.2270;gnomAD_genome_ALL=0.3248;gnomAD_genome_AFR=0.3473;gnomAD_genome_AMR=0.2847;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.2027;gnomAD_genome_FIN=0.3728;gnomAD_genome_NFE=0.3168;gnomAD_genome_OTH=0.3354;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-535.439,0,-1131.27:1076:616:408:11150:18718 0/1:-339.351,0,-507.169:592:307:246:6484:9007 0/1:-508.793,0,-866.651:953:517:374:10097:15112 . . . 0/1:-563.565,0,-846.891:943:482:412:11190:14376 0/1:-644.432,0,-965.382:1042:537:449:12573:16572 . . 0/1:-601.407,0,-758.889:930:454:424:11335:13417 0/1:-462.137,0,-578.56:761:363:351:9501:10741 . . . . 0/1:-539.767,0,-869.688:952:507:393:10693:15060 . 0/1:-421.933,0,-802.884:830:464:318:8499:14054 0/1:-724.154,0,-983.597:1089:552:478:13344:16876 . . . 0/1:-368.326,0,-659.551:738:399:293:7893:11817 . 1/1:-1492.54,-190.218,0:815:18:732:20082:495 . 1/1:-1622.08,-217.629,0:883:10:795:21833:336 1/1:-1498.72,-206.216,0:841:15:752:20341:376 . . 0/1:-710.921,0,-1088.17:1293:694:522:13986:20198 0/1:-559.926,0,-812.732:900:472:385:10613:14286 0/1:-723.356,0,-1132.21:1237:655:519:14116:19841 0/1:-945.807,0,-1312.44:1579:771:701:18614:23071 . . . 0/1:-715.328,0,-1131.5:1208:632:509:14033:19184 . . . . . 0/1:-574.857,0,-885.454:1020:522:436:11505:15789 . . . 0/1:-767.684,0,-1069.91:1224:638:524:14476:19337 0/1:-482.832,0,-695.88:851:427:379:9900:12992 . 1/1:-2190.75,-291.522,0:1232:26:1103:29508:691 0/1:-373.561,0,-640.001:740:379:314:8436:11460 . . . . 0/1:-755.656,0,-1171.21:1286:682:541:14732:20496 . 0/1:-783.584,0,-1159.44:1334:676:581:15506:20154 . . 0/1:-706.773,0,-994.25:1177:575:513:13764:17362 1/1:-1920.51,-262.695,0:1065:17:957:26019:423 . . . . . . 0/1:-713.021,0,-1013.89:1136:580:491:13191:17468 . 0/1:-542.829,0,-650.855:793:391:362:10097:11884 0/1:-948.09,0,-1076.91:1384:666:639:17509:20126 . 0/1:-683.063,0,-940.416:1077:542:472:12734:16502 0/1:-404.834,0,-621.922:686:353:288:7982:10629 0/1:-386.846,0,-602.403:661:349:281:7488:10713 . . . . . 0/1:-580.012,0,-998.876:1067:565:439:11851:16997 0/1:-478.401,0,-624.251:712:351:328:8958:10607 . . . . . . 0/1:-613.999,0,-1177.04:1213:679:467:12783:20330 . . . 0/1:-900.727,0,-1225.34:1120:592:492:14505:18392:592,492 0/1:-994.077,0,-1358.91:1218:638:547:16089:20166:638,547 . . 1/1:-2469.79,-268.932,0:1061:13:1004:30053:460:13,1004 0/1:-953.198,0,-1114.91:1084:541:501:15204:17103:541,501 . . . 0/1:-1010.94,0,-1341.3:1258:659:567:16929:20539:659,567 0/1:-791.522,0,-934.698:896:460:409:12500:14394:460,409 1/1:-2193.19,-238.243,0:981:19:913:26980:529:19,913 . 0/1:-963.151,0,-1250.4:1157:601:516:15204:19175:601,516 . 0/1:-926.992,0,-1371.08:1227:665:517:15281:20668:665,517 . 0/1:-768.251,0,-1058.06:965:510:421:12643:16007:510,421 0/1:-927.13,0,-1213.58:1149:598:514:15081:18755:598,514 chr1 228476018 . C T 929.88 . AB=0.442529;ABP=8.00219;AC=1;AF=0.5;AN=2;AO=77;CIGAR=1X;DP=174;DPB=174;DPRA=0;EPP=9.35551;EPPR=4.48875;GTI=0;LEN=1;MEANALT=3;MQM=29.2987;MQMR=33.8298;NS=1;NUMALT=1;ODDS=214.112;PAIRED=0.961039;PAIREDR=0.914894;PAO=0;PQA=0;PQR=0;PRO=0;QA=2283;QR=2788;RO=94;RPL=47;RPP=11.1604;RPPR=43.7601;RPR=30;RUN=1;SAF=13;SAP=76.3609;SAR=64;SF=0;SRF=29;SRP=32.9489;SRR=65;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon37:c.C10068T:p.T3356T,OBSCN:NM_052843:exon37:c.C10068T:p.T3356T,OBSCN:NM_001271223:exon42:c.C11355T:p.T3785T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs760187698;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.378e-05;ExAC_AFR=0;ExAC_AMR=8.664e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.548e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5002;dpsi_zscore=1.132;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.177e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.321e-05;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.684e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-109.01,0,-163.283:174:94:77:2283:2788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228476366 . GA TT 6797.98 . AB=0.44077;ABP=53.6854;AC=9;AF=0.5;AN=18;AO=733;CIGAR=2X;DP=11138;DPB=1667.5;DPRA=0;EPP=3.15546;EPPR=3.36778;GTI=0;LEN=2;MEANALT=15;MQM=32.3984;MQMR=34.5156;NS=1;NUMALT=1;ODDS=2206.33;PAIRED=0.92633;PAIREDR=0.893878;PAO=1;PQA=32;PQR=41;PRO=3;QA=18067;QR=21190;RO=735;RPL=363;RPP=3.15546;RPPR=5.49494;RPR=370;RUN=1;SAF=406;SAP=21.4989;SAR=327;SF=0;SRF=401;SRP=16.2725;SRR=334;TYPE=mnp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=OBSCN:NM_001098623:exon38:c.10116_10117TT,OBSCN:NM_052843:exon38:c.10116_10117TT,OBSCN:NM_001271223:exon43:c.11403_11404TT;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386640016;Kaviar_AF=0.001533;Kaviar_AC=237;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-968.351,0,-1219:1663:735:733:18067:21190 . . . . . . . 0/1:-723.425,0,-1138.47:1393:655:579:14175:19140 . . . . 0/1:-422.843,0,-749.735:912:442:368:8838:12751 . . . 0/1:-693.503,0,-1007.25:1264:588:529:13184:16659 . . . . . . . . . . . . . . 0/1:-390.06,0,-586.186:732:336:309:7386:9541 . . 0/1:-793.277,0,-1121.02:1378:630:604:14903:18215 . . . . 0/1:-572.17,0,-748.227:958:431:428:10469:12268 0/1:-722.785,0,-909.268:1228:544:549:13204:15529 . . . . . . . . . . . . . . 0/1:-916.505,0,-1305.48:1610:744:684:16864:21638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228476414 . G A 8066.72 . AB=0.487658;ABP=5.20792;AC=9;AF=0.5;AN=18;AO=810;CIGAR=1X;DP=11055;DPB=1661;DPRA=0;EPP=10.2593;EPPR=19.7758;GTI=0;LEN=1;MEANALT=3;MQM=29.8321;MQMR=32.8299;NS=1;NUMALT=1;ODDS=2709.05;PAIRED=0.897531;PAIREDR=0.892132;PAO=0;PQA=0;PQR=0;PRO=0;QA=23621;QR=24999;RO=788;RPL=435;RPP=12.6613;RPPR=3.1095;RPR=375;RUN=1;SAF=386;SAP=6.88142;SAR=424;SF=0;SRF=392;SRP=3.05439;SRR=396;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10164A:p.A3388A,OBSCN:NM_052843:exon38:c.G10164A:p.A3388A,OBSCN:NM_001271223:exon43:c.G11451A:p.A3817A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0278;esp6500siv2_ea=0.0186;esp6500siv2_all=0.0278;esp6500siv2_ea=0.0186;1000g2015aug_all=0.0938498;avsnp147=rs3795791;Kaviar_AF=0.0477355;Kaviar_AC=7380;Kaviar_AN=154602;ExAC_ALL=0.0510;ExAC_AFR=0.0449;ExAC_AMR=0.0085;ExAC_EAS=0.3409;ExAC_FIN=0.0562;ExAC_NFE=0.0225;ExAC_OTH=0.0399;ExAC_SAS=0.0472;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5971;dpsi_zscore=-1.183;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0503;gnomAD_exome_AFR=0.0443;gnomAD_exome_AMR=0.0100;gnomAD_exome_ASJ=0.0130;gnomAD_exome_EAS=0.3438;gnomAD_exome_FIN=0.0560;gnomAD_exome_NFE=0.0218;gnomAD_exome_OTH=0.0343;gnomAD_exome_SAS=0.0456;gnomAD_genome_ALL=0.0475;gnomAD_genome_AFR=0.0424;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.3228;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0224;gnomAD_genome_OTH=0.0368;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-1187.02,0,-1383.67:1661:788:810:23621:24999 . . . . . . . 0/1:-821.548,0,-1232.14:1368:704:611:17657:22094 . . . . 0/1:-537.207,0,-720.392:896:441:415:11575:13511 . . . 0/1:-837.636,0,-1190.45:1273:665:563:16675:20884 . . . . . . . . . . . . . . 0/1:-424.938,0,-657.666:685:359:309:8756:11094 . . 0/1:-880.883,0,-1262.59:1355:679:628:17798:21308 . . . . 0/1:-601.147,0,-748.841:878:432:410:11848:13302 0/1:-893.314,0,-1091.04:1270:612:602:17570:19461 . . . . . . . . . . . . . . 0/1:-1175.66,0,-1454.48:1669:809:790:22884:25683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228476420 . C T 4992.86 . AB=0.457788;ABP=16.0262;AC=1;AF=0.5;AN=2;AO=385;CIGAR=1X;DP=841;DPB=841;DPRA=0;EPP=4.64031;EPPR=3.52979;GTI=0;LEN=1;MEANALT=3;MQM=29.9766;MQMR=32.2416;NS=1;NUMALT=1;ODDS=1149.65;PAIRED=0.890909;PAIREDR=0.88756;PAO=0;PQA=0;PQR=0;PRO=0;QA=10631;QR=12457;RO=418;RPL=186;RPP=3.96349;RPPR=11.3222;RPR=199;RUN=1;SAF=169;SAP=15.4695;SAR=216;SF=0;SRF=179;SRP=21.712;SRR=239;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.C10170T:p.P3390P,OBSCN:NM_052843:exon38:c.C10170T:p.P3390P,OBSCN:NM_001271223:exon43:c.C11457T:p.P3819P;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0039;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0039;1000g2015aug_all=0.000199681;avsnp147=rs56367754;Kaviar_AF=0.0017076;Kaviar_AC=264;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0004;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0028;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2665;dpsi_zscore=-0.802;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-508.808,0,-681.262:841:418:385:10631:12457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228476484 . G A 4085.20 . AB=0.437908;ABP=28.628;AC=1;AF=0.5;AN=2;AO=335;CIGAR=1X;DP=765;DPB=765;DPRA=0;EPP=5.3503;EPPR=20.8713;GTI=0;LEN=1;MEANALT=3;MQM=29.3284;MQMR=31.6886;NS=1;NUMALT=1;ODDS=940.651;PAIRED=0.871642;PAIREDR=0.875949;PAO=0;PQA=0;PQR=0;PRO=0;QA=9179;QR=11795;RO=395;RPL=235;RPP=121.145;RPPR=73.2066;RPR=100;RUN=1;SAF=136;SAP=28.7374;SAR=199;SF=0;SRF=171;SRP=18.4525;SRR=224;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10234A:p.G3412R,OBSCN:NM_052843:exon38:c.G10234A:p.G3412R,OBSCN:NM_001271223:exon43:c.G11521A:p.G3841R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0094;esp6500siv2_ea=.;esp6500siv2_all=0.0094;esp6500siv2_ea=.;1000g2015aug_all=0.00798722;avsnp147=rs56271332;Kaviar_AF=0.0023092;Kaviar_AC=357;Kaviar_AN=154602;ExAC_ALL=0.0024;ExAC_AFR=0.0278;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.023;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.035;MutationAssessor_pred=M;FATHMM_score=-0.79;FATHMM_pred=T;PROVEAN_score=-5.04;PROVEAN_pred=D;VEST3_score=0.357;CADD_raw=6.121;CADD_phred=28.3;DANN_score=0.999;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=0.142;MetaSVM_pred=D;MetaLR_score=0.399;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.97;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.994;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.284;SiPhy_29way_logOdds=18.229;GDI_full_10282015=.;dpsi_max_tissue=-0.8956;dpsi_zscore=-1.407;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0264;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.056e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0274;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.669e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-432.134,0,-658.405:765:395:335:9179:11795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228479664 . T C 3996.99 . AB=0.457627;ABP=10.3712;AC=1;AF=0.5;AN=2;AO=216;CIGAR=1X;DP=472;DPB=472;DPRA=0;EPP=4.45795;EPPR=5.28857;GTI=0;LEN=1;MEANALT=3;MQM=36.7315;MQMR=39.668;NS=1;NUMALT=1;ODDS=920.342;PAIRED=0.953704;PAIREDR=0.963115;PAO=0;PQA=0;PQR=0;PRO=0;QA=6727;QR=7132;RO=244;RPL=87;RPP=20.744;RPPR=9.02635;RPR=129;RUN=1;SAF=135;SAP=32.3252;SAR=81;SF=1;SRF=149;SRP=28.9612;SRR=95;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon39:c.T10405C:p.L3469L,OBSCN:NM_052843:exon39:c.T10405C:p.L3469L,OBSCN:NM_001271223:exon44:c.T11692C:p.L3898L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs370881280;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1478;dpsi_zscore=-0.576;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-412.165,0,-472.804:472:244:216:6727:7132:244,216 . . . . . . . . . . . . . . . . . . chr1 228479825 . C T 990.19 . AB=0.474359;ABP=4.34659;AC=2;AF=0.5;AN=4;AO=111;CIGAR=1X;DP=484;DPB=234;DPRA=0;EPP=13.359;EPPR=3.03022;GTI=0;LEN=1;MEANALT=3;MQM=28.8378;MQMR=26.3578;NS=1;NUMALT=1;ODDS=229.035;PAIRED=1;PAIREDR=0.963303;PAO=0;PQA=0;PQR=0;PRO=0;QA=2766;QR=3236;RO=109;RPL=78;RPP=42.625;RPPR=22.1551;RPR=33;RUN=1;SAF=21;SAP=96.1489;SAR=90;SF=0;SRF=27;SRP=63.2736;SRR=82;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon39:c.C10566T:p.C3522C,OBSCN:NM_052843:exon39:c.C10566T:p.C3522C,OBSCN:NM_001271223:exon44:c.C11853T:p.C3951C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0021;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0021;1000g2015aug_all=0.000399361;avsnp147=rs200826459;Kaviar_AF=0.0015524;Kaviar_AC=240;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=0.0005;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0016;ExAC_OTH=0.0011;ExAC_SAS=0.0043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7834;dpsi_zscore=-1.332;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-121.106,0,-134.837:234:109:111:2766:3236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-120.828,0,-126.781:250:120:109:2536:3372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228480282 . A G 10020.73 . AB=0.457627;ABP=14.9718;AC=152;AF=0.5;AN=208;AO=351;CIGAR=1X;DP=111141;DPB=767;DPRA=0;EPP=5.24364;EPPR=7.39802;GTI=0;LEN=1;MEANALT=3;MQM=18.7265;MQMR=23.5026;NS=1;NUMALT=1;ODDS=644.279;PAIRED=0.920228;PAIREDR=0.956186;PAO=0;PQA=0;PQR=0;PRO=0;QA=10470;QR=11396;RO=388;RPL=230;RPP=76.5125;RPPR=50.3797;RPR=121;RUN=1;SAF=194;SAP=11.4797;SAR=157;SF=0,1;SRF=218;SRP=15.9048;SRR=170;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.A10662G:p.T3554T,OBSCN:NM_052843:exon40:c.A10662G:p.T3554T,OBSCN:NM_001271223:exon45:c.A11949G:p.T3983T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7438;esp6500siv2_ea=0.7022;esp6500siv2_all=0.7438;esp6500siv2_ea=0.7022;1000g2015aug_all=0.698882;avsnp147=rs1150908;Kaviar_AF=0.684137;Kaviar_AC=105769;Kaviar_AN=154602;ExAC_ALL=0.6946;ExAC_AFR=0.8268;ExAC_AMR=0.7487;ExAC_EAS=0.7309;ExAC_FIN=0.7722;ExAC_NFE=0.7029;ExAC_OTH=0.6533;ExAC_SAS=0.4970;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.1251;dpsi_zscore=1.594;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6954;gnomAD_exome_AFR=0.8257;gnomAD_exome_AMR=0.7516;gnomAD_exome_ASJ=0.6408;gnomAD_exome_EAS=0.7292;gnomAD_exome_FIN=0.7705;gnomAD_exome_NFE=0.6999;gnomAD_exome_OTH=0.6860;gnomAD_exome_SAS=0.4987;gnomAD_genome_ALL=0.7525;gnomAD_genome_AFR=0.8236;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7017;gnomAD_genome_FIN=0.7811;gnomAD_genome_NFE=0.7148;gnomAD_genome_OTH=0.7082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-295.676,0,-457.901:767:388:351:10470:11396 1/1:-1714.75,-354.122,0:1213:4:1189:35027:96 1/1:-1410.95,-282.672,0:982:11:959:28559:216 0/1:-262.467,0,-360.886:646:311:307:8966:9420 0/1:-501.104,0,-559.682:1103:493:568:16514:15049 1/1:-2085.45,-419.33,0:1453:11:1417:41681:255 1/1:-1322.35,-264.56,0:940:9:912:26808:236 1/1:-1719.13,-340.391,0:1196:13:1164:33932:332 1/1:-1499.86,-282.271,0:1062:25:1019:30022:666 1/1:-1466.66,-295.568,0:1049:13:1017:30323:290 1/1:-1307.31,-271.281,0:934:6:914:27491:185 0/1:-434.665,0,-486.112:943:426:486:14541:12772 1/1:-1477.36,-287.038,0:1044:15:1006:29550:413 1/1:-1024.39,-219.209,0:773:7:749:22069:224 . 0/1:-778.143,0,-854.328:1574:717:818:24734:22066 1/1:-923.288,-193.583,0:663:5:650:18874:88 . 0/1:-460.419,0,-530.137:1012:459:515:15386:13996 . 1/1:-1124.3,-223.518,0:776:6:757:22480:128 0/1:-502.366,0,-590.055:1144:519:593:17712:15959 0/1:-262.11,0,-323.29:592:276:296:8685:8378 1/1:-1889.55,-376.746,0:1328:11:1286:38207:230 . 1/1:-1002,-203.072,0:729:9:706:20808:245 . 1/1:-1274.2,-256.846,0:904:10:880:26059:248 1/1:-1178.3,-235.339,0:834:8:810:23583:152 1/1:-1318.62,-255.339,0:898:9:878:25954:217 1/1:-1270.92,-247.366,0:866:9:844:24848:192 0/1:-460.147,0,-700.55:1159:570:557:16578:17219 0/1:-528.654,0,-647.716:1183:556:591:17175:17069 1/1:-1942.84,-375.694,0:1323:11:1293:38022:258 0/1:-495.718,0,-547.246:1005:444:532:16204:13643 1/1:-1575.95,-303.174,0:1095:14:1058:31399:360 0/1:-713.941,0,-883.888:1613:770:787:22643:22817 1/1:-1147.54,-236.55,0:826:11:806:24396:315 1/1:-1347.42,-269.7,0:959:14:920:27170:316 0/1:-372.629,0,-474.516:846:402:423:12585:12109 1/1:-1781.52,-354.753,0:1225:9:1196:36034:171 0/1:-559.406,0,-617.428:1154:537:574:17031:16098 . 0/1:-465.275,0,-605.839:1073:515:539:16054:15286 0/1:-613.323,0,-611.874:1238:549:645:19142:16892 . 1/1:-1697.81,-340.552,0:1178:7:1144:33413:169 1/1:-900.285,-178.363,0:614:2:599:17628:68 . . 1/1:-1611.14,-326.467,0:1155:10:1126:33019:293 1/1:-1255.89,-250.059,0:907:11:878:25641:289 0/1:-502.97,0,-815.427:1273:631:602:17758:19453 1/1:-1965.8,-386.199,0:1366:14:1319:38445:335 1/1:-1023.42,-211.315,0:733:7:716:20859:138 0/1:-390.252,0,-477.636:840:404:413:12199:12371 0/1:-490.229,0,-609.747:1102:527:539:15644:15918 0/1:-226.889,0,-353.615:643:320:295:8513:9387 0/1:-345.903,0,-399.611:768:355:380:11105:10626 1/1:-1775.29,-330.876,0:1225:19:1177:34368:565 0/1:-283.03,0,-409.013:768:369:372:10963:11176 0/1:-643.368,0,-665.945:1340:609:693:20379:18503 0/1:-464.362,0,-649.767:1089:531:520:15697:16391 0/1:-275.97,0,-356.66:699:344:334:9686:9957 1/1:-1748.87,-350.997,0:1257:15:1223:36121:378 1/1:-1786.02,-350.393,0:1220:10:1191:35616:254 0/1:-278.68,0,-260.693:562:244:302:8809:7435 0/1:-438.847,0,-581.317:1025:478:510:14846:14518 1/1:-1630.5,-299.425,0:1084:14:1046:30876:358 0/1:-404.325,0,-633.717:1055:536:472:14099:16139 1/1:-1641.96,-318.125,0:1103:8:1076:32098:258 1/1:-1979.8,-390.039,0:1376:10:1343:40090:262 1/1:-1599.82,-323.3,0:1136:9:1100:32635:228 0/1:-217.225,0,-408.51:771:398:329:8802:11677 1/1:-1278.18,-255.638,0:922:10:892:26089:297 0/1:-729.537,0,-730.194:1449:642:761:22502:19350 0/1:-579.363,0,-674.068:1308:588:656:19021:17753 1/1:-1767.33,-357.972,0:1234:7:1211:36016:155 1/1:-1088.31,-217.192,0:767:10:747:21915:272 1/1:-971.01,-183.701,0:653:12:634:18795:309 0/1:-498.545,0,-538.044:1132:518:577:16822:14799 0/1:-611.629,0,-708.836:1328:611:687:20202:18480 0/1:-553.714,0,-761.787:1294:638:621:18182:19402 . 0/1:-423.88,0,-608.843:1034:506:493:14488:15431 1/1:-1550.87,-297.945,0:1047:9:1026:30107:219 1/1:-970.226,-185.857,0:704:17:677:19828:443 1/1:-1728.1,-342.042,0:1233:15:1197:35166:420 1/1:-1008.73,-194.82,0:655:1:647:19252:14 0/1:-412.708,0,-489.274:900:431:434:13112:12812 0/1:-626.363,0,-616.961:1286:584:669:20038:17652 0/1:-462.878,0,-584.598:1041:501:512:14908:15398 0/1:-584.121,0,-597.881:1213:547:625:18509:16629 0/1:-589.558,0,-620.986:1245:575:624:17766:17149 0/1:-596.705,0,-788.952:1339:639:658:19292:19540 . 0/1:-1082.3,0,-1185.71:1377:671:688:21266:20963:671,688 0/1:-983.488,0,-1105.19:1298:614:661:20770:19458:614,661 0/1:-1003.54,0,-1043.85:1270:597:649:20399:18717:597,649 0/1:-525.439,0,-919.335:873:496:356:11058:15346:496,356 . 1/1:-2678.41,-357.086,0:1313:14:1289:40423:437:14,1289 0/1:-879.907,0,-991.809:1166:569:580:18006:17822:569,580 0/1:-916.966,0,-1306.35:1354:721:619:19470:22494:721,619 0/1:-889.122,0,-1065.89:1198:594:586:18135:18655:594,586 0/1:-962.458,0,-985.248:1230:570:640:19910:17969:570,640 0/1:-1023.64,0,-1184.45:1371:668:683:21393:21032:668,683 0/1:-813.85,0,-863.474:1015:481:517:16266:15267:481,517 1/1:-2489.6,-353.77,0:1215:4:1204:37772:122:4,1204 0/1:-872.251,0,-863.725:1084:504:565:17721:15615:504,565 0/1:-1037.64,0,-912.818:1250:550:680:21420:17012:550,680 0/1:-942.068,0,-973.584:1220:569:637:19762:17940:569,637 0/1:-861.102,0,-1027.56:1179:580:576:17742:18244:580,576 0/1:-846.396,0,-936.667:1139:542:584:18228:16957:542,584 1/1:-2212,-314.53,0:1082:3:1065:33442:86:3,1065 1/1:-2643.69,-373.053,0:1310:9:1288:40455:246:9,1288 chr1 228480317 . C T 3162.01 . AB=0.403226;ABP=78.6616;AC=1;AF=0.5;AN=2;AO=375;CIGAR=1X;DP=930;DPB=930;DPRA=0;EPP=3.47934;EPPR=10.0434;GTI=0;LEN=1;MEANALT=3;MQM=22.5253;MQMR=20.7166;NS=1;NUMALT=1;ODDS=728.081;PAIRED=0.941333;PAIREDR=0.951417;PAO=0;PQA=0;PQR=0;PRO=0;QA=9859;QR=14528;RO=494;RPL=162;RPP=18.0716;RPPR=5.98179;RPR=213;RUN=1;SAF=213;SAP=18.0716;SAR=162;SF=0;SRF=267;SRP=10.0434;SRR=227;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.C10697T:p.P3566L,OBSCN:NM_052843:exon40:c.C10697T:p.P3566L,OBSCN:NM_001271223:exon45:c.C11984T:p.P3995L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0088;esp6500siv2_ea=.;esp6500siv2_all=0.0088;esp6500siv2_ea=.;1000g2015aug_all=0.00738818;avsnp147=rs62621834;Kaviar_AF=0.0022121;Kaviar_AC=342;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0273;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.492e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.765;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-6.02;PROVEAN_pred=D;VEST3_score=0.468;CADD_raw=5.205;CADD_phred=25.5;DANN_score=0.997;fathmm-MKL_coding_score=0.751;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.420;MetaSVM_pred=T;MetaLR_score=0.210;MetaLR_pred=T;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=4.39;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.087;SiPhy_29way_logOdds=16.104;GDI_full_10282015=.;dpsi_max_tissue=-0.3615;dpsi_zscore=-0.937;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0258;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.161e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0272;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.673e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-330.531,0,-531.742:930:494:375:9859:14528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228480335 . G T 5736.34 . AB=0.461014;ABP=20.4495;AC=1;AF=0.5;AN=2;AO=609;CIGAR=1X;DP=1321;DPB=1321;DPRA=0;EPP=3.29912;EPPR=3.06095;GTI=0;LEN=1;MEANALT=3;MQM=22.6437;MQMR=22.2391;NS=1;NUMALT=1;ODDS=1320.84;PAIRED=0.912972;PAIREDR=0.90379;PAO=0;PQA=0;PQR=0;PRO=0;QA=16241;QR=19560;RO=686;RPL=230;RPP=82.171;RPPR=150.696;RPR=379;RUN=1;SAF=339;SAP=19.9863;SAR=270;SF=0;SRF=346;SRP=3.12425;SRR=340;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.G10715T:p.G3572V,OBSCN:NM_052843:exon40:c.G10715T:p.G3572V,OBSCN:NM_001271223:exon45:c.G12002T:p.G4001V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770182851;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.14e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.993e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.16;MutationAssessor_pred=M;FATHMM_score=-0.59;FATHMM_pred=T;PROVEAN_score=-5.37;PROVEAN_pred=D;VEST3_score=0.74;CADD_raw=5.443;CADD_phred=26.1;DANN_score=0.994;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=0.274;MetaSVM_pred=D;MetaLR_score=0.579;MetaLR_pred=D;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=5.31;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.865;phastCons20way_mammalian=0.401;SiPhy_29way_logOdds=10.625;GDI_full_10282015=.;dpsi_max_tissue=1.5510;dpsi_zscore=1.802;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.161e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-592.465,0,-738.709:1321:686:609:16241:19560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228480382 . G A 5666.34 . AB=0.427594;ABP=42.9461;AC=2;AF=0.5;AN=4;AO=375;CIGAR=1X;DP=1696;DPB=877;DPRA=0;EPP=3.29404;EPPR=17.8575;GTI=0;LEN=1;MEANALT=3;MQM=30.9387;MQMR=33.3333;NS=1;NUMALT=1;ODDS=1383.78;PAIRED=0.981333;PAIREDR=0.965447;PAO=0;PQA=0;PQR=0;PRO=0;QA=12135;QR=15683;RO=492;RPL=243;RPP=74.3562;RPPR=37.1889;RPR=132;RUN=1;SAF=154;SAP=29.0043;SAR=221;SF=1;SRF=235;SRP=5.14646;SRR=257;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.G10762A:p.G3588R,OBSCN:NM_052843:exon40:c.G10762A:p.G3588R,OBSCN:NM_001271223:exon45:c.G12049A:p.G4017R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778720702;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=6.624e-05;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.105;MutationAssessor_pred=M;FATHMM_score=-0.79;FATHMM_pred=T;PROVEAN_score=-5.08;PROVEAN_pred=D;VEST3_score=0.402;CADD_raw=5.585;CADD_phred=26.5;DANN_score=0.998;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=0.429;MetaSVM_pred=D;MetaLR_score=0.634;MetaLR_pred=D;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=4.4;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.133;phastCons7way_vertebrate=0.891;phastCons20way_mammalian=0.273;SiPhy_29way_logOdds=14.130;GDI_full_10282015=.;dpsi_max_tissue=-0.2841;dpsi_zscore=-0.829;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.092e-05;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.952e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-621.982,0,-954.573:877:492:375:12135:15683:492,375 . . . . 0/1:-551.145,0,-853.438:819:455:352:10919:14424:455,352 . . . . . . chr1 228480441 . G A 3795.47 . AB=0.456522;ABP=15.8503;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X;DP=782;DPB=782;DPRA=0;EPP=8.85564;EPPR=35.2386;GTI=0;LEN=1;MEANALT=3;MQM=27.8627;MQMR=26.9763;NS=1;NUMALT=1;ODDS=873.94;PAIRED=0.943978;PAIREDR=0.957784;PAO=0;PQA=0;PQR=0;PRO=0;QA=9581;QR=11196;RO=379;RPL=266;RPP=189.289;RPPR=110.547;RPR=91;RUN=1;SAF=113;SAP=107.393;SAR=244;SF=0;SRF=138;SRP=63.7943;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.G10821A:p.S3607S,OBSCN:NM_052843:exon40:c.G10821A:p.S3607S,OBSCN:NM_001271223:exon45:c.G12108A:p.S4036S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0032;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0032;1000g2015aug_all=0.00958466;avsnp147=rs113015177;Kaviar_AF=0.004877;Kaviar_AC=754;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0369;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0030;ExAC_OTH=0.0056;ExAC_SAS=0.0007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2656;dpsi_zscore=0.839;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=0.0382;gnomAD_exome_AMR=0.0051;gnomAD_exome_ASJ=0.0304;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.484e-05;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0124;gnomAD_genome_AFR=0.0407;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-417.981,0,-497.88:782:379:357:9581:11196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228481046 . TCCCCCA TCCCCCCA 1189.92 . AB=0.325532;ABP=127.274;AC=1;AF=0.5;AN=2;AO=153;CIGAR=1M1I6M;DP=470;DPB=530.143;DPRA=0;EPP=3.36512;EPPR=12.5903;GTI=0;LEN=1;MEANALT=52;MQM=29.6209;MQMR=34.1863;NS=1;NUMALT=1;ODDS=273.988;PAIRED=0.888889;PAIREDR=0.946078;PAO=21;PQA=614.5;PQR=614.5;PRO=21;QA=3247;QR=5983;RO=204;RPL=43;RPP=66.721;RPPR=81.7368;RPR=110;RUN=1;SAF=111;SAP=70.5814;SAR=42;SF=0;SRF=142;SRP=71.1349;SRR=62;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769866453;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.274e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.728e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.861e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.335e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-141.062,0,-335.862:470:204:153:3247:5983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228481854 . C T 7755.54 . AB=0.494624;ABP=3.26714;AC=1;AF=0.5;AN=2;AO=506;CIGAR=1X;DP=1023;DPB=1023;DPRA=0;EPP=110.142;EPPR=143.729;GTI=0;LEN=1;MEANALT=3;MQM=35.0474;MQMR=35.0167;NS=1;NUMALT=1;ODDS=1777.28;PAIRED=0.972332;PAIREDR=0.964435;PAO=0;PQA=0;PQR=0;PRO=0;QA=13620;QR=13785;RO=478;RPL=238;RPP=6.8726;RPPR=12.6229;RPR=268;RUN=1;SAF=320;SAP=80.0675;SAR=186;SF=0;SRF=301;SRP=72.8608;SRR=177;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11133T:p.A3711A,OBSCN:NM_052843:exon42:c.C11133T:p.A3711A,OBSCN:NM_001271223:exon47:c.C12420T:p.A4140A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=0.000199681;avsnp147=rs199641194;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.4050;dpsi_zscore=2.317;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-802.713,0,-802.334:1023:478:506:13620:13785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228481917 . G A 7180.85 . AB=0.455172;ABP=13.1339;AC=5;AF=0.5;AN=10;AO=264;CIGAR=1X;DP=5195;DPB=580;DPRA=0;EPP=34.6283;EPPR=16.529;GTI=0;LEN=1;MEANALT=3;MQM=31.2841;MQMR=30.5118;NS=1;NUMALT=1;ODDS=880.397;PAIRED=0.939394;PAIREDR=0.946128;PAO=0;PQA=0;PQR=0;PRO=0;QA=7797;QR=9393;RO=297;RPL=125;RPP=4.62245;RPPR=5.12328;RPR=139;RUN=1;SAF=132;SAP=3.0103;SAR=132;SF=0,1;SRF=134;SRP=9.15915;SRR=163;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11196A:p.T3732T,OBSCN:NM_052843:exon42:c.G11196A:p.T3732T,OBSCN:NM_001271223:exon47:c.G12483A:p.T4161T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0164;esp6500siv2_ea=0.0229;esp6500siv2_all=0.0164;esp6500siv2_ea=0.0229;1000g2015aug_all=0.00878594;avsnp147=rs55702382;Kaviar_AF=0.0141589;Kaviar_AC=2189;Kaviar_AN=154602;ExAC_ALL=0.0140;ExAC_AFR=0.0035;ExAC_AMR=0.0102;ExAC_EAS=0.0001;ExAC_FIN=0.0012;ExAC_NFE=0.0193;ExAC_OTH=0.0133;ExAC_SAS=0.0135;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1315;dpsi_zscore=-1.545;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0143;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0101;gnomAD_exome_ASJ=0.0435;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0019;gnomAD_exome_NFE=0.0188;gnomAD_exome_OTH=0.0204;gnomAD_exome_SAS=0.0147;gnomAD_genome_ALL=0.0102;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0157;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . 0/1:-393.513,0,-490.873:580:297:264:7797:9393 . 0/1:-886.868,0,-942.339:1208:590:573:16739:18656 . . . . . . . . . . . . . . . . . . . . 0/1:-651.785,0,-920.108:1020:552:444:13054:17240 . . . . . . . . . . . . . . . 0/1:-984.109,0,-1189.95:1435:735:667:19136:23223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-762.04,0,-1022.16:952:502:432:12798:16153:502,432 . . . . . . . . . . . . . . . . chr1 228482010 . C T 8229.09 . AB=0.406699;ABP=66.222;AC=90;AF=0.5;AN=138;AO=340;CIGAR=1X;DP=81922;DPB=836;DPRA=0;EPP=5.56497;EPPR=13.6936;GTI=0;LEN=1;MEANALT=3;MQM=21.9471;MQMR=24.1225;NS=1;NUMALT=1;ODDS=578.646;PAIRED=0.926471;PAIREDR=0.89755;PAO=0;PQA=0;PQR=0;PRO=0;QA=8840;QR=13829;RO=449;RPL=236;RPP=114.292;RPPR=93.7817;RPR=104;RUN=1;SAF=140;SAP=26.0024;SAR=200;SF=0,1;SRF=190;SRP=26.0356;SRR=259;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11289T:p.D3763D,OBSCN:NM_052843:exon42:c.C11289T:p.D3763D,OBSCN:NM_001271223:exon47:c.C12576T:p.D4192D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4681;esp6500siv2_ea=0.4953;esp6500siv2_all=0.4681;esp6500siv2_ea=0.4953;1000g2015aug_all=0.381989;avsnp147=rs449133;Kaviar_AF=0.430609;Kaviar_AC=66573;Kaviar_AN=154602;ExAC_ALL=0.4358;ExAC_AFR=0.4244;ExAC_AMR=0.3494;ExAC_EAS=0.2061;ExAC_FIN=0.5641;ExAC_NFE=0.4961;ExAC_OTH=0.4278;ExAC_SAS=0.3281;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.4158;dpsi_zscore=-1.680;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4344;gnomAD_exome_AFR=0.4206;gnomAD_exome_AMR=0.3665;gnomAD_exome_ASJ=0.4076;gnomAD_exome_EAS=0.2030;gnomAD_exome_FIN=0.5609;gnomAD_exome_NFE=0.497;gnomAD_exome_OTH=0.4466;gnomAD_exome_SAS=0.3315;gnomAD_genome_ALL=0.4781;gnomAD_genome_AFR=0.4307;gnomAD_genome_AMR=0.3846;gnomAD_genome_ASJ=0.4073;gnomAD_genome_EAS=0.2066;gnomAD_genome_FIN=0.5630;gnomAD_genome_NFE=0.5212;gnomAD_genome_OTH=0.4867;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-275.469,0,-589.619:836:449:340:8840:13829 . 1/1:-1390.04,-255.796,0:1010:21:909:23680:567 0/1:-238.404,0,-493.525:717:384:294:7578:11491 0/1:-478.335,0,-839.397:1255:651:533:14163:19582 . . 0/1:-475.093,0,-868.266:1252:652:521:13693:19415 0/1:-450.716,0,-648.105:1075:526:509:13046:15809 1/1:-1583.92,-281.523,0:1156:28:1037:26796:846 0/1:-442.891,0,-568.035:1032:477:481:12161:14396 0/1:-381.338,0,-630.562:1008:529:431:11119:16058 0/1:-367.507,0,-640.502:981:501:423:10587:15109 1/1:-1066.93,-222.418,0:880:17:786:19553:445 . . 1/1:-912.089,-171.874,0:706:18:626:15874:401 . 0/1:-370.082,0,-715.581:1070:560:458:12175:17096 . 1/1:-1145.86,-209.427,0:831:16:733:18616:370 0/1:-418.641,0,-832.772:1169:632:478:12160:19402 . . . 0/1:-322.396,0,-449.99:787:382:363:9314:11603 . 1/1:-1387.33,-235.656,0:1001:28:887:23828:842 . 1/1:-1132.23,-210.144,0:872:23:778:19840:535 1/1:-1143.62,-204.101,0:896:29:783:19529:709 . . 1/1:-1739.83,-317.97,0:1302:29:1141:29117:610 0/1:-366.058,0,-693.295:1014:532:441:11467:16584 1/1:-1641.34,-309.119,0:1211:20:1099:28304:488 0/1:-684.36,0,-1275.88:1907:985:811:20588:29296 0/1:-379.255,0,-396.201:781:338:397:10299:10253 . 0/1:-284.641,0,-643.469:891:489:350:9100:14700 0/1:-545.324,0,-777.697:1249:607:582:15182:18361 . . . 0/1:-480.82,0,-860.293:1337:684:579:14504:20486 . 1/1:-1543.35,-291.777,0:1146:23:1016:26431:536 . . . 0/1:-523.533,0,-935.422:1433:744:605:15666:22291 1/1:-1248.91,-240.103,0:1011:21:882:21569:567 . 1/1:-1928.45,-349.998,0:1504:35:1308:33188:1010 1/1:-863.549,-176.702,0:672:10:608:15588:268 . . . 0/1:-306.746,0,-526.199:857:439:368:9225:12822 1/1:-1830.48,-326.544,0:1379:34:1201:30555:794 . 0/1:-603.527,0,-1088.69:1655:842:724:18306:25546 0/1:-466.871,0,-822.938:1227:639:521:13162:19388 . 0/1:-535.536,0,-742.754:1298:618:613:15822:18517 1/1:-1789.99,-329.674,0:1347:31:1195:30331:854 . 0/1:-408.25,0,-733.886:1142:584:502:12620:17787 . . 0/1:-378.803,0,-717.277:1072:567:458:11539:17171 . 0/1:-551.39,0,-646.227:1216:566:588:15080:16683 . 0/1:-322.322,0,-536.739:866:436:387:9849:12788 0/1:-530.576,0,-1152.17:1657:901:666:16935:26810 0/1:-458.445,0,-895.311:1354:707:575:14449:21465 0/1:-550.75,0,-818.609:1345:663:605:15473:20033 0/1:-356.278,0,-470.091:790:359:387:9682:10911 1/1:-866.941,-167.818,0:661:10:595:15457:273 . . . . 0/1:-435.731,0,-743.554:1199:599:538:13163:17944 0/1:-483.833,0,-733.485:1209:599:530:13449:17818 0/1:-290.483,0,-539.899:799:419:340:8684:12668 1/1:-1568.69,-266.98,0:1230:35:1086:27491:1083 . . 0/1:-559.112,0,-1018.23:1492:809:608:15876:24742 0/1:-506.651,0,-767.66:1231:612:556:14269:18441 0/1:-459.182,0,-994.569:1318:726:530:13925:22290 0/1:-543.53,0,-921.601:1418:736:608:15817:22072 0/1:-487.466,0,-1032.09:1481:776:620:14912:23716 . . 0/1:-1000.2,0,-1599.05:1544:828:680:20065:26183:828,680 0/1:-1102.19,0,-1577.03:1588:816:728:21374:26265:816,728 . . 1/1:-2987.77,-380.381,0:1462:21:1394:40940:548:21,1394 0/1:-1013.99,0,-1501.95:1505:800:677:19603:25263:800,677 . 0/1:-914.262,0,-1609.17:1449:808:615:17960:25939:808,615 . 0/1:-1117.8,0,-1667.73:1628:858:725:21510:27296:858,725 0/1:-910.836,0,-1176.34:1222:612:582:17357:19475:612,582 1/1:-2684.13,-348.246,0:1311:15:1245:36241:414:15,1245 0/1:-975.396,0,-1450.72:1432:767:642:18839:24268:767,642 0/1:-1076.79,0,-1369.66:1466:744:688:20353:23922:744,688 . 0/1:-1001.1,0,-1619.92:1549:831:684:20053:26766:831,684 . 0/1:-749.393,0,-1009.78:1053:541:487:14338:17333:541,487 1/1:-2950.67,-372.774,0:1478:25:1392:40384:709:25,1392 chr1 228482028 . G C 5864.09 . AB=0;ABP=0;AC=53;AF=1;AN=94;AO=952;CIGAR=1X;DP=45054;DPB=1015;DPRA=0;EPP=127.906;EPPR=47.4268;GTI=0;LEN=1;MEANALT=3;MQM=22.6303;MQMR=19;NS=1;NUMALT=1;ODDS=1123.23;PAIRED=0.915966;PAIREDR=0.863636;PAO=0;PQA=0;PQR=0;PRO=0;QA=25551;QR=900;RO=44;RPL=622;RPP=197.494;RPPR=22.751;RPR=330;RUN=1;SAF=395;SAP=62.8718;SAR=557;SF=0,1;SRF=27;SRP=7.94546;SRR=17;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11307C:p.L3769L,OBSCN:NM_052843:exon42:c.G11307C:p.L3769L,OBSCN:NM_001271223:exon47:c.G12594C:p.L4198L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2178;esp6500siv2_ea=0.1766;esp6500siv2_all=0.2178;esp6500siv2_ea=0.1766;1000g2015aug_all=0.21246;avsnp147=rs4653547;Kaviar_AF=0.196634;Kaviar_AC=30400;Kaviar_AN=154602;ExAC_ALL=0.2036;ExAC_AFR=0.3147;ExAC_AMR=0.3888;ExAC_EAS=0.1818;ExAC_FIN=0.1521;ExAC_NFE=0.1837;ExAC_OTH=0.1856;ExAC_SAS=0.1205;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8007;dpsi_zscore=-1.344;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2084;gnomAD_exome_AFR=0.3198;gnomAD_exome_AMR=0.3751;gnomAD_exome_ASJ=0.2199;gnomAD_exome_EAS=0.1828;gnomAD_exome_FIN=0.1537;gnomAD_exome_NFE=0.1808;gnomAD_exome_OTH=0.2053;gnomAD_exome_SAS=0.1222;gnomAD_genome_ALL=0.2153;gnomAD_genome_AFR=0.3124;gnomAD_genome_AMR=0.3493;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0.1776;gnomAD_genome_FIN=0.1647;gnomAD_genome_NFE=0.1697;gnomAD_genome_OTH=0.1796;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1482.89,-253.074,0:1015:44:952:25551:900 . . . 1/1:-1901.38,-311.457,0:1280:53:1202:31950:1250 1/1:-1082.76,-176.71,0:759:38:697:18423:898 0/1:-549.568,0,-595.395:1071:544:519:13705:16374 0/1:-439.553,0,-486.997:932:481:433:11599:14432 . 0/1:-378.9,0,-459.843:849:440:397:10521:12917 . 0/1:-467.068,0,-393.509:857:399:439:11432:12095 . . . . . . . . . 0/1:-208.288,0,-270.43:492:254:227:5837:7356 0/1:-589.764,0,-1049.33:1478:829:620:16406:25383 . 0/1:-298.622,0,-339.199:640:323:304:8084:9434 . . 0/1:-332.422,0,-450.469:754:397:337:8933:11943 . . 0/1:-556.652,0,-616.817:1047:534:490:13761:16180 . . . . . 0/1:-275.127,0,-394.307:651:351:289:7475:10865 1/1:-1416.11,-239.623,0:896:27:846:22760:611 . 0/1:-548.441,0,-612.599:1054:546:498:13518:16822 0/1:-342.679,0,-769.673:1007:594:396:10372:18012 . 0/1:-414.259,0,-656.504:989:529:437:11498:16067 . . . 0/1:-298.135,0,-485.756:679:385:278:7402:11707 . . . . 0/1:-470.897,0,-805.976:1151:651:487:13092:19444 . . . . 0/1:-209.095,0,-380.058:568:314:243:6193:9266 . . 0/1:-281.638,0,-446.791:687:376:294:7789:11234 . . 0/1:-243.013,0,-427.492:614:343:263:6868:10410 0/1:-513.539,0,-601.043:1109:579:506:13239:17752 . 0/1:-190.631,0,-367.181:540:312:210:5470:9579 . 1/1:-1563.77,-242.622,0:1045:55:966:25614:1294 0/1:-481.283,0,-795.914:1142:645:477:12679:19458 0/1:-528.318,0,-446.899:953:448:485:13096:13484 0/1:-712.072,0,-919.365:1396:742:637:17172:22707 0/1:-447.861,0,-612.119:1074:571:479:12255:16927 0/1:-250.861,0,-329.232:647:337:296:7412:9595 0/1:-407.449,0,-360.447:737:353:373:9898:10993 . . 0/1:-551.299,0,-615.1:1140:577:540:14580:17064 0/1:-343.686,0,-375.631:682:363:309:8216:11135 . 0/1:-426.957,0,-689.669:1069:578:481:12545:17527 0/1:-509.255,0,-891.289:1242:693:530:13850:20898 0/1:-569.785,0,-969.126:1302:724:554:14876:21916 . . 0/1:-505.693,0,-584.458:1055:535:499:12951:16203 0/1:-355.188,0,-313.973:674:324:333:8964:9820 . 1/1:-951.128,-148.414,0:613:22:577:15424:529 0/1:-277.467,0,-640.242:835:513:306:8261:15775 . . . . . . 0/1:-1235.08,0,-1617.92:1576:845:712:21834:26884:845,712 . . 0/1:-747.445,0,-1010.71:984:523:447:13277:16819:523,447 . . . 0/1:-948.975,0,-1465.65:1332:755:552:16838:23840:755,552 . 0/1:-903.366,0,-1254.08:1199:653:539:16651:20962:653,539 . . . . . 0/1:-864.596,0,-1276.56:1212:667:524:16242:20815:667,524 . 0/1:-809.686,0,-1278.49:1141:658:465:14638:20974:658,465 0/1:-811.266,0,-743.916:885:423:452:14036:13810:423,452 . chr1 228482059 . G A 2818.24 . AB=0.37561;ABP=140.766;AC=2;AF=0.5;AN=4;AO=385;CIGAR=1X;DP=1889;DPB=1025;DPRA=0;EPP=5.49762;EPPR=10.2545;GTI=0;LEN=1;MEANALT=3;MQM=23.1325;MQMR=21.939;NS=1;NUMALT=1;ODDS=658.562;PAIRED=0.92987;PAIREDR=0.920923;PAO=0;PQA=0;PQR=0;PRO=0;QA=10830;QR=18146;RO=607;RPL=293;RPP=230.88;RPPR=390.23;RPR=92;RUN=1;SAF=123;SAP=111.984;SAR=262;SF=0;SRF=225;SRP=91.1893;SRR=382;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11338A:p.G3780R,OBSCN:NM_052843:exon42:c.G11338A:p.G3780R,OBSCN:NM_001271223:exon47:c.G12625A:p.G4209R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0305;esp6500siv2_ea=0.0421;esp6500siv2_all=0.0305;esp6500siv2_ea=0.0421;1000g2015aug_all=0.00798722;avsnp147=rs56218706;Kaviar_AF=0.0225612;Kaviar_AC=3488;Kaviar_AN=154602;ExAC_ALL=0.0212;ExAC_AFR=0.0048;ExAC_AMR=0.0086;ExAC_EAS=0;ExAC_FIN=0.0230;ExAC_NFE=0.0327;ExAC_OTH=0.0111;ExAC_SAS=0.0048;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=4.51;MutationAssessor_pred=H;FATHMM_score=2.3;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_pred=D;VEST3_score=0.899;CADD_raw=5.747;CADD_phred=26.9;DANN_score=0.998;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.384;MetaSVM_pred=T;MetaLR_score=0.072;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.05;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.271;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=15.666;GDI_full_10282015=.;dpsi_max_tissue=-1.2516;dpsi_zscore=-1.604;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0219;gnomAD_exome_AFR=0.0054;gnomAD_exome_AMR=0.0085;gnomAD_exome_ASJ=0.0332;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0229;gnomAD_exome_NFE=0.0352;gnomAD_exome_OTH=0.0208;gnomAD_exome_SAS=0.0044;gnomAD_genome_ALL=0.0241;gnomAD_genome_AFR=0.0077;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0255;gnomAD_genome_NFE=0.0357;gnomAD_genome_OTH=0.0305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-339.9,0,-724.257:1025:607:385:10830:18146 0/1:-316.021,0,-555.963:864:469:362:10006:13650 . . . . . . . . . . . . . . . . . . . . . . . . chr1 228482569 . G A 3662.27 . AB=0.439462;ABP=38.5036;AC=5;AF=0.5;AN=10;AO=490;CIGAR=1X;DP=5313;DPB=1115;DPRA=0;EPP=45.5712;EPPR=42.6454;GTI=0;LEN=1;MEANALT=3;MQM=17.9429;MQMR=21.5965;NS=1;NUMALT=1;ODDS=827.074;PAIRED=0.959184;PAIREDR=0.949123;PAO=0;PQA=0;PQR=0;PRO=0;QA=13716;QR=17507;RO=570;RPL=261;RPP=7.54823;RPPR=29.8908;RPR=229;RUN=1;SAF=229;SAP=7.54823;SAR=261;SF=0;SRF=265;SRP=9.10566;SRR=305;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon43:c.G11484A:p.A3828A,OBSCN:NM_052843:exon43:c.G11484A:p.A3828A,OBSCN:NM_001271223:exon48:c.G12771A:p.A4257A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0236;esp6500siv2_ea=0.0324;esp6500siv2_all=0.0236;esp6500siv2_ea=0.0324;1000g2015aug_all=0.0127796;avsnp147=rs56122236;Kaviar_AF=0.0214874;Kaviar_AC=3322;Kaviar_AN=154602;ExAC_ALL=0.0211;ExAC_AFR=0.0041;ExAC_AMR=0.0200;ExAC_EAS=0;ExAC_FIN=0.0091;ExAC_NFE=0.0324;ExAC_OTH=0.02;ExAC_SAS=0.0019;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.5112;dpsi_zscore=-1.721;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0212;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0228;gnomAD_exome_ASJ=0.0174;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0098;gnomAD_exome_NFE=0.0338;gnomAD_exome_OTH=0.0265;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0071;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0346;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-373.628,0,-664.886:1115:570:490:13716:17507 0/1:-222.775,0,-427.289:784:415:327:8684:12845 . . . . . . . . . . . . . . . . . . . 0/1:-361.148,0,-507.048:956:468:435:12047:13888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-570.342,0,-638.166:1357:633:670:18362:19307 . . . . . . . . 0/1:-361.283,0,-647.706:1101:577:476:13009:17544 . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228486404 . C T 1691.06 . AB=0;ABP=0;AC=49;AF=1;AN=86;AO=212;CIGAR=1X;DP=8334;DPB=233;DPRA=0;EPP=11.0407;EPPR=12.6832;GTI=0;LEN=1;MEANALT=3;MQM=35.0849;MQMR=27.8182;NS=1;NUMALT=1;ODDS=238.559;PAIRED=0.985849;PAIREDR=0.818182;PAO=0;PQA=0;PQR=0;PRO=0;QA=6031;QR=266;RO=11;RPL=146;RPP=68.5642;RPPR=3.20771;RPR=66;RUN=1;SAF=26;SAP=265.226;SAR=186;SF=0,1;SRF=4;SRP=4.78696;SRR=7;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon49:c.C13196T:p.T4399M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1943;esp6500siv2_ea=0.1788;esp6500siv2_all=0.1943;esp6500siv2_ea=0.1788;1000g2015aug_all=0.165935;avsnp147=rs56021350;Kaviar_AF=0.17633;Kaviar_AC=27261;Kaviar_AN=154602;ExAC_ALL=0.1835;ExAC_AFR=0.2267;ExAC_AMR=0.3173;ExAC_EAS=0.1519;ExAC_FIN=0.1495;ExAC_NFE=0.1816;ExAC_OTH=0.1846;ExAC_SAS=0.1040;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.36;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.271;CADD_raw=0.548;CADD_phred=7.790;DANN_score=0.303;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.017;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=-4.67;phyloP7way_vertebrate=-0.786;phyloP20way_mammalian=-2.709;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=12.656;GDI_full_10282015=.;dpsi_max_tissue=-0.3856;dpsi_zscore=-0.966;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1872;gnomAD_exome_AFR=0.2307;gnomAD_exome_AMR=0.3110;gnomAD_exome_ASJ=0.2109;gnomAD_exome_EAS=0.1522;gnomAD_exome_FIN=0.1541;gnomAD_exome_NFE=0.1769;gnomAD_exome_OTH=0.1859;gnomAD_exome_SAS=0.1046;gnomAD_genome_ALL=0.1862;gnomAD_genome_AFR=0.2298;gnomAD_genome_AMR=0.2938;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.1380;gnomAD_genome_FIN=0.1615;gnomAD_genome_NFE=0.1673;gnomAD_genome_OTH=0.1663;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-468.172,-49.5862,0:233:11:212:6031:266 . . . 1/1:-525.084,-60.461,0:267:6:249:6704:185 1/1:-330.59,-29.8875,0:161:7:150:4370:208 0/1:-167.963,0,-226.748:235:121:107:2992:3633 0/1:-146.181,0,-193.927:205:111:84:2472:3178 . 0/1:-176.493,0,-165.96:206:99:97:2816:2787 . 0/1:-152.011,0,-174.246:186:95:87:2551:2904 . . . . . . . . . 0/1:-59.5498,0,-75.0187:95:48:44:1166:1327 0/1:-218.997,0,-229.423:272:130:132:3634:3757 . 0/1:-111.764,0,-124.09:147:71:68:1892:2109 . . 0/1:-148.746,0,-123.212:166:69:91:2524:2157 . . 0/1:-180.397,0,-208.659:218:107:103:2971:3256 . . . . . 0/1:-132.984,0,-139.031:166:80:78:2217:2396 1/1:-371.638,-42.9858,0:181:5:168:4684:123 . 0/1:-194.132,0,-162.102:225:97:119:3188:2815 . . 0/1:-170.951,0,-176.895:200:95:100:2778:2967 . . . 0/1:-131.547,0,-135.072:155:75:77:2158:2230 . . . . 0/1:-127.361,0,-239.022:224:129:90:2366:3740 . . . . 0/1:-69.5829,0,-111.942:115:65:46:1320:1987 . . 0/1:-105.573,0,-134.95:158:82:71:1956:2272 . . 0/1:-83.0833,0,-102.808:120:59:57:1577:1711 0/1:-188.63,0,-223.819:249:124:115:3207:3654 . . . 1/1:-533.631,-63.769,0:255:3:233:6791:82 0/1:-147.999,0,-194.202:212:107:95:2576:3150 0/1:-170.061,0,-152.598:204:92:105:2830:2658 0/1:-257.019,0,-234.915:287:125:143:4088:3839 0/1:-196.54,0,-239.629:240:121:112:3192:3753 0/1:-60.6704,0,-117.502:124:67:51:1298:2047 . . . 0/1:-128.663,0,-156.905:174:92:80:2188:2582 0/1:-102.022,0,-143.046:142:75:65:1811:2334 . 0/1:-183.972,0,-169.964:216:102:109:3007:2917 0/1:-232.326,0,-195.615:253:118:130:3645:3520 0/1:-258.787,0,-237.199:295:135:152:4393:3989 . . 0/1:-179.096,0,-167.964:212:97:102:2898:2865 0/1:-85.4845,0,-113.529:125:62:58:1650:1851 . 1/1:-317.401,-39.1014,0:146:2:139:3964:46 0/1:-100.18,0,-187.013:171:96:68:1824:2975 . . . . . . 0/1:-214.416,0,-273.396:245:131:109:3335:4067:131,109 . . 0/1:-167.017,0,-179.121:159:82:75:2441:2642:82,75 . . . 0/1:-173.375,0,-204.462:194:102:89:2657:3078:102,89 . 0/1:-186.441,0,-114.188:159:62:96:2782:1891:62,96 . . . . . 0/1:-155.776,0,-207.079:179:97:79:2411:3020:97,79 . 0/1:-135.486,0,-191.76:158:88:68:2173:2737:88,68 . . chr1 228487176 . CATG CG 154.89 . AB=0.274809;ABP=60.7118;AC=1;AF=0.5;AN=2;AO=36;CIGAR=1M2D1M;DP=131;DPB=116.25;DPRA=0;EPP=3.0103;EPPR=44.396;GTI=0;LEN=2;MEANALT=7;MQM=28.5556;MQMR=37.2647;NS=1;NUMALT=1;ODDS=35.6657;PAIRED=0.972222;PAIREDR=0.970588;PAO=4;PQA=128;PQR=114;PRO=4;QA=816;QR=2175;RO=68;RPL=19;RPP=3.25157;RPPR=44.396;RPR=17;RUN=1;SAF=1;SAP=72.7387;SAR=35;SF=0;SRF=4;SRP=117.971;SRR=64;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001271223:exon50:c.13428_13429del:p.S4476fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs748780851;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0005;ExAC_AMR=0.0002;ExAC_EAS=0.0002;ExAC_FIN=0.0006;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-31.8115,0,-150.202:131:68:36:816:2175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228487677 . C G 8113.63 . AB=0.497512;ABP=3.06432;AC=1;AF=0.5;AN=2;AO=500;CIGAR=1X;DP=1005;DPB=1005;DPRA=0;EPP=98.1382;EPPR=6.58684;GTI=0;LEN=1;MEANALT=3;MQM=35.886;MQMR=36.1366;NS=1;NUMALT=1;ODDS=1868.23;PAIRED=0.944;PAIREDR=0.922269;PAO=0;PQA=0;PQR=0;PRO=0;QA=13632;QR=14063;RO=476;RPL=204;RPP=39.769;RPPR=43.3194;RPR=296;RUN=1;SAF=236;SAP=6.41517;SAR=264;SF=0;SRF=251;SRP=6.09416;SRR=225;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon51:c.C13569G:p.P4523P;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764293329;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.642e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.581e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5086;dpsi_zscore=1.140;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.132e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.158e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-833.093,0,-844.769:1005:476:500:13632:14063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228487853 . A G 3033.09 . AB=0.470213;ABP=6.6325;AC=2;AF=0.5;AN=4;AO=221;CIGAR=1X;DP=846;DPB=470;DPRA=0;EPP=15.0467;EPPR=13.0265;GTI=0;LEN=1;MEANALT=3;MQM=35.5249;MQMR=35.0495;NS=1;NUMALT=1;ODDS=749.639;PAIRED=0.918552;PAIREDR=0.918919;PAO=0;PQA=0;PQR=0;PRO=0;QA=6029;QR=6332;RO=222;RPL=171;RPP=146.868;RPPR=211.511;RPR=50;RUN=1;SAF=78;SAP=44.5237;SAR=143;SF=0;SRF=61;SRP=100.824;SRR=161;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0293;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0293;esp6500siv2_ea=0.0015;1000g2015aug_all=0.033746;avsnp147=rs6693018;Kaviar_AF=0.0099093;Kaviar_AC=1532;Kaviar_AN=154602;ExAC_ALL=0.0105;ExAC_AFR=0.1050;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0037;ExAC_SAS=0.0049;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.4594;dpsi_zscore=-1.699;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0094;gnomAD_exome_AFR=0.1009;gnomAD_exome_AMR=0.0061;gnomAD_exome_ASJ=0.0065;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0076;gnomAD_exome_SAS=0.0051;gnomAD_genome_ALL=0.0273;gnomAD_genome_AFR=0.0930;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-361.014,0,-366.469:470:222:221:6029:6332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-300.415,0,-286.039:376:176:177:5124:4831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228491633 . G A 3853.83 . AB=0.486656;ABP=3.99547;AC=9;AF=0.5;AN=18;AO=310;CIGAR=1X;DP=5260;DPB=637;DPRA=0;EPP=28.2274;EPPR=30.2159;GTI=0;LEN=1;MEANALT=3;MQM=33.6484;MQMR=33.7946;NS=1;NUMALT=1;ODDS=1076.19;PAIRED=0.929032;PAIREDR=0.86532;PAO=0;PQA=0;PQR=0;PRO=0;QA=8746;QR=8885;RO=297;RPL=236;RPP=186.843;RPPR=165.33;RPR=74;RUN=1;SAF=113;SAP=52.4358;SAR=197;SF=0;SRF=109;SRP=48.6405;SRR=188;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon52:c.G13996A:p.V4666I;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0488;esp6500siv2_ea=0.0397;esp6500siv2_all=0.0488;esp6500siv2_ea=0.0397;1000g2015aug_all=0.052516;avsnp147=rs11584418;Kaviar_AF=0.0433759;Kaviar_AC=6706;Kaviar_AN=154602;ExAC_ALL=0.0452;ExAC_AFR=0.0548;ExAC_AMR=0.0579;ExAC_EAS=0.0817;ExAC_FIN=0.0500;ExAC_NFE=0.0391;ExAC_OTH=0.0420;ExAC_SAS=0.0339;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.59;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.082;CADD_raw=0.427;CADD_phred=6.844;DANN_score=0.548;fathmm-MKL_coding_score=0.350;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.063;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=2.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.573;phastCons20way_mammalian=0.303;SiPhy_29way_logOdds=6.702;GDI_full_10282015=.;dpsi_max_tissue=1.4209;dpsi_zscore=1.743;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0468;gnomAD_exome_AFR=0.0565;gnomAD_exome_AMR=0.0588;gnomAD_exome_ASJ=0.0618;gnomAD_exome_EAS=0.0851;gnomAD_exome_FIN=0.0524;gnomAD_exome_NFE=0.0372;gnomAD_exome_OTH=0.0486;gnomAD_exome_SAS=0.0329;gnomAD_genome_ALL=0.0485;gnomAD_genome_AFR=0.0580;gnomAD_genome_AMR=0.0646;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.0767;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0372;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-501.744,0,-503.959:637:297:310:8746:8885 . . . 0/1:-514.655,0,-664.304:772:392:343:9498:11230 . . . . 0/1:-369.119,0,-496.066:555:276:261:7019:8249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-257.558,0,-250.551:369:159:186:4896:4642 . . . . 0/1:-451.786,0,-660.34:733:374:330:8676:10936 . . . . . . . . 0/1:-620.532,0,-585.038:774:368:383:10767:10635 0/1:-250.888,0,-347.838:392:217:166:4622:6192 . 0/1:-462.629,0,-546.421:672:330:321:8364:9353 . . . . . . . 0/1:-294.605,0,-289.964:356:169:178:4925:5062 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228492044 . G A 9339.68 . AB=0.410317;ABP=62.6023;AC=91;AF=0.5;AN=140;AO=350;CIGAR=1X;DP=71318;DPB=853;DPRA=0;EPP=10.1824;EPPR=31.4312;GTI=0;LEN=1;MEANALT=3;MQM=31.2029;MQMR=32.2009;NS=1;NUMALT=1;ODDS=1021.34;PAIRED=0.9;PAIREDR=0.942605;PAO=0;PQA=0;PQR=0;PRO=0;QA=9332;QR=13125;RO=453;RPL=197;RPP=15.0216;RPPR=18.5845;RPR=153;RUN=1;SAF=205;SAP=25.3454;SAR=145;SF=0,1;SRF=253;SRP=16.4753;SRR=200;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.G14043A:p.E4681E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4536;esp6500siv2_ea=0.4905;esp6500siv2_all=0.4536;esp6500siv2_ea=0.4905;1000g2015aug_all=0.369209;avsnp147=rs1150910;Kaviar_AF=0.427582;Kaviar_AC=66105;Kaviar_AN=154602;ExAC_ALL=0.4336;ExAC_AFR=0.3862;ExAC_AMR=0.3476;ExAC_EAS=0.2052;ExAC_FIN=0.5646;ExAC_NFE=0.4986;ExAC_OTH=0.4243;ExAC_SAS=0.3280;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3657;dpsi_zscore=0.979;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4307;gnomAD_exome_AFR=0.3775;gnomAD_exome_AMR=0.3626;gnomAD_exome_ASJ=0.4094;gnomAD_exome_EAS=0.2021;gnomAD_exome_FIN=0.5612;gnomAD_exome_NFE=0.4974;gnomAD_exome_OTH=0.4451;gnomAD_exome_SAS=0.3284;gnomAD_genome_ALL=0.4656;gnomAD_genome_AFR=0.3856;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.2051;gnomAD_genome_FIN=0.5635;gnomAD_genome_NFE=0.5219;gnomAD_genome_OTH=0.4867;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-457.552,0,-729.334:853:453:350:9332:13125 . 1/1:-1606.93,-209.975,0:917:21:812:21542:563 0/1:-369.879,0,-474.551:638:315:287:7385:9153 0/1:-538.841,0,-943.461:1065:568:427:11301:16984 . . 0/1:-515.94,0,-1031.78:1150:631:438:11000:18650 0/1:-560.28,0,-833.765:971:512:408:10921:14958 1/1:-1715.11,-249.457,0:986:14:881:22981:293 0/1:-473.631,0,-764.927:916:484:382:9906:13936 0/1:-506.723,0,-910.772:1016:536:402:10434:16145 0/1:-473.862,0,-806.99:956:509:391:9896:14725 1/1:-1401.72,-214.002,0:842:10:754:19396:259 . . 1/1:-1213.27,-181.027,0:683:5:629:16425:150 . 0/1:-597.984,0,-811.076:977:486:430:11384:14434 . 1/1:-1254.04,-182.493,0:725:11:650:17159:273 0/1:-649.537,0,-950.538:1151:600:489:12810:17968 . . . 0/1:-501.846,0,-624.508:874:423:385:9958:12289 . 1/1:-1579.52,-217.391,0:888:15:797:21245:351 . 1/1:-1446.24,-206.44,0:836:11:746:19379:345 1/1:-1346.84,-192.81,0:764:11:700:18515:309 . . 1/1:-1909.39,-274.718,0:1143:19:1005:26372:455 0/1:-600.256,0,-818.867:952:498:413:10991:14898 1/1:-2084.95,-311.522,0:1190:10:1072:28360:197 0/1:-833.805,0,-1369.61:1613:869:653:17091:25396 0/1:-412.299,0,-758.23:820:463:323:8372:13423 . 0/1:-389.797,0,-709.653:797:437:317:8481:12809 0/1:-703.577,0,-885.946:1145:561:516:13301:16275 . . . 0/1:-561.277,0,-840.871:1023:537:431:11483:15803 . 1/1:-1841.38,-280.498,0:1034:4:942:24294:92 . . . 0/1:-671.509,0,-987.675:1195:603:517:13554:17606 0/1:-518.378,0,-564.513:909:414:416:10538:11820 . 1/1:-2262.38,-325.761,0:1290:21:1162:30641:473 1/1:-1082.63,-153.56,0:669:14:584:15149:375 . . . 0/1:-446.557,0,-574.121:773:381:343:8753:11124 1/1:-2153.77,-301.533,0:1219:25:1107:28806:625 . 0/1:-778.384,0,-1051.03:1374:659:617:15666:19602 0/1:-593.3,0,-865.988:1064:539:456:12029:15694 . 0/1:-728.047,0,-1101.55:1300:675:563:14482:19794 1/1:-1806.51,-260.69,0:1025:15:937:24285:354 0/1:-312.78,0,-525.558:651:342:272:6752:10021 0/1:-486.236,0,-908.583:983:558:371:10162:16284 . . 0/1:-532.981,0,-1003.06:1103:603:440:11371:17673 . 0/1:-681.849,0,-900.031:1152:577:513:13307:16758 . 0/1:-502.688,0,-713.415:854:448:366:9931:13135 0/1:-753.137,0,-1199.17:1453:773:595:15221:22621 0/1:-687.197,0,-951.267:1166:604:502:13274:17418 0/1:-675.017,0,-943.136:1165:602:505:13277:17567 0/1:-362.256,0,-610.93:719:367:304:7704:11032 1/1:-1102.34,-155.508,0:649:13:574:14812:339 . . . . 0/1:-476.611,0,-750.919:960:494:400:10208:14185 0/1:-523.817,0,-817.176:960:508:396:10360:14883 0/1:-380.808,0,-576.321:685:358:289:7802:10402 1/1:-1816.21,-244.156,0:1090:31:973:24873:810 . . 0/1:-910.859,0,-1041.04:1377:675:627:16684:19845 0/1:-549.762,0,-866.252:1058:553:439:11082:16139 0/1:-712.567,0,-941.666:1192:601:528:13815:17699 0/1:-700.321,0,-993.324:1229:639:520:13752:18868 0/1:-764.504,0,-953.721:1260:618:558:14907:17944 . . 0/1:-848.044,0,-1193.23:1124:603:481:13814:18160:603,481 0/1:-931.135,0,-1346.66:1210:651:532:15113:20160:651,532 . . 1/1:-2538.68,-288.774,0:1129:18:1060:30081:422:18,1060 0/1:-709.191,0,-1237.59:1050:596:423:11893:18371:596,423 . 0/1:-831.034,0,-1210.39:1116:592:485:13684:18309:592,485 . 0/1:-960.83,0,-1273.07:1216:628:540:15482:19388:628,540 0/1:-629.398,0,-881.79:810:423:360:10114:13470:423,360 1/1:-2041.08,-239.804,0:909:13:861:24252:284:13,861 0/1:-814.556,0,-1261.61:1126:620:468:13383:18967:620,468 0/1:-834.898,0,-1217.64:1085:584:466:13448:18311:584,466 . 0/1:-937.114,0,-1185.36:1156:593:534:15015:18345:593,534 . 1/1:-2014.52,-232.87,0:872:9:830:23901:223:9,830 1/1:-2427.73,-260.559,0:1066:17:1001:29128:553:17,1001 chr1 228492069 . C T 12529.90 . AB=0.474784;ABP=10.6762;AC=1;AF=0.5;AN=2;AO=659;CIGAR=1X;DP=1388;DPB=1388;DPRA=0;EPP=51.2539;EPPR=82.8496;GTI=0;LEN=1;MEANALT=3;MQM=37.7648;MQMR=37.3518;NS=1;NUMALT=1;ODDS=2885.12;PAIRED=0.981791;PAIREDR=0.957447;PAO=0;PQA=0;PQR=0;PRO=0;QA=20032;QR=22239;RO=705;RPL=314;RPP=6.17689;RPPR=48.1061;RPR=345;RUN=1;SAF=379;SAP=35.3056;SAR=280;SF=1;SRF=404;SRP=35.6871;SRR=301;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.C14068T:p.L4690L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747506741;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.495e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.52e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6272;dpsi_zscore=1.251;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.439e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.379e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1269.92,0,-1412.81:1388:705:659:20032:22239:705,659 . . . chr1 228492220 . C T 4591.25 . AB=0.421099;ABP=64.004;AC=7;AF=0.5;AN=14;AO=475;CIGAR=1X;DP=6164;DPB=1128;DPRA=0;EPP=3.01487;EPPR=18.0723;GTI=0;LEN=1;MEANALT=3;MQM=28.8968;MQMR=29.9315;NS=1;NUMALT=1;ODDS=1298.72;PAIRED=0.951579;PAIREDR=0.931529;PAO=0;PQA=0;PQR=0;PRO=0;QA=13451;QR=18614;RO=628;RPL=326;RPP=146.231;RPPR=297.833;RPR=149;RUN=1;SAF=155;SAP=127.47;SAR=320;SF=0;SRF=241;SRP=76.7159;SRR=387;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.C14219T:p.S4740L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0115;esp6500siv2_ea=0.0158;esp6500siv2_all=0.0115;esp6500siv2_ea=0.0158;1000g2015aug_all=0.00539137;avsnp147=rs41270183;Kaviar_AF=0.0123349;Kaviar_AC=1907;Kaviar_AN=154602;ExAC_ALL=0.0124;ExAC_AFR=0.0029;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0221;ExAC_NFE=0.0176;ExAC_OTH=0.0134;ExAC_SAS=0.0064;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.54;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.154;CADD_raw=2.422;CADD_phred=18.97;DANN_score=0.976;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.919;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=-3.29;phyloP7way_vertebrate=-0.064;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.239;phastCons20way_mammalian=0.016;SiPhy_29way_logOdds=8.864;GDI_full_10282015=.;dpsi_max_tissue=-0.1453;dpsi_zscore=-0.570;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0051;gnomAD_exome_EAS=5.809e-05;gnomAD_exome_FIN=0.0202;gnomAD_exome_NFE=0.0179;gnomAD_exome_OTH=0.0115;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0122;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0186;gnomAD_genome_NFE=0.0175;gnomAD_genome_OTH=0.0123;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-603.899,0,-978.309:1128:628:475:13451:18614 . . . . . . . . . . . . . . . . 0/1:-584.591,0,-666.023:951:457:453:12651:13246 . . . . . . . . . . . . . . 0/1:-218.366,0,-349.221:444:230:196:5344:6890 . . 0/1:-622.091,0,-703.475:1008:503:474:13336:14610 . . . . 0/1:-336.97,0,-528.511:629:336:271:7559:10091 0/1:-408.276,0,-822.701:919:524:356:9869:15737 . . . . . . . . . . . . . . 0/1:-674.676,0,-793.133:1085:527:524:14847:15871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228494209 . T C 7581.71 . AB=0.489835;ABP=3.93733;AC=1;AF=0.5;AN=2;AO=506;CIGAR=1X;DP=1033;DPB=1033;DPRA=0;EPP=3.85142;EPPR=16.1473;GTI=0;LEN=1;MEANALT=3;MQM=30.5415;MQMR=32.695;NS=1;NUMALT=1;ODDS=1603.99;PAIRED=0.91502;PAIREDR=0.879668;PAO=0;PQA=0;PQR=0;PRO=0;QA=14945;QR=13837;RO=482;RPL=182;RPP=89.543;RPPR=172.565;RPR=324;RUN=1;SAF=288;SAP=24.0384;SAR=218;SF=0;SRF=310;SRP=88.806;SRR=172;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon44:c.T11796C:p.N3932N,OBSCN:NM_052843:exon44:c.T11796C:p.N3932N,OBSCN:NM_001271223:exon55:c.T14667C:p.N4889N;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000599042;avsnp147=rs201397658;Kaviar_AF=0.0009832;Kaviar_AC=152;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0002;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0016;ExAC_OTH=0.0012;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3231;dpsi_zscore=0.923;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0023;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-777.187,0,-732.051:1033:482:506:14945:13837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228494216 . C T 6166.07 . AB=0.4131;ABP=78.1129;AC=2;AF=0.5;AN=4;AO=473;CIGAR=1X;DP=2127;DPB=1145;DPRA=0;EPP=5.03487;EPPR=3.61289;GTI=0;LEN=1;MEANALT=3;MQM=32.0507;MQMR=34.3268;NS=1;NUMALT=1;ODDS=1390.67;PAIRED=0.828753;PAIREDR=0.873563;PAO=0;PQA=0;PQR=0;PRO=0;QA=12398;QR=18709;RO=609;RPL=191;RPP=41.0271;RPPR=77.9778;RPR=282;RUN=1;SAF=262;SAP=14.9511;SAR=211;SF=0;SRF=342;SRP=23.067;SRR=267;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon44:c.C11803T:p.R3935W,OBSCN:NM_052843:exon44:c.C11803T:p.R3935W,OBSCN:NM_001271223:exon55:c.C14674T:p.R4892W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000399361;avsnp147=rs200812111;Kaviar_AF=0.0013325;Kaviar_AC=206;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0.0006;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0012;ExAC_SAS=0.0044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.182;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_pred=D;LRT_score=0.922;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.54;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-2.0;PROVEAN_pred=N;VEST3_score=0.203;CADD_raw=2.032;CADD_phred=16.42;DANN_score=0.992;fathmm-MKL_coding_score=0.102;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.802;MetaSVM_pred=T;MetaLR_score=0.316;MetaLR_pred=T;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=-0.301;phyloP7way_vertebrate=-0.064;phyloP20way_mammalian=-0.402;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.026;SiPhy_29way_logOdds=0.685;GDI_full_10282015=.;dpsi_max_tissue=-0.6431;dpsi_zscore=-1.223;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-620.814,0,-1112.1:1145:609:473:12398:18709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-650.918,0,-893.049:982:500:439:11942:15403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228494357 . C T 5043.47 . AB=0;ABP=0;AC=49;AF=1;AN=86;AO=618;CIGAR=1X;DP=27517;DPB=671;DPRA=0;EPP=106.96;EPPR=3.12459;GTI=0;LEN=1;MEANALT=3;MQM=33.8236;MQMR=31.5263;NS=1;NUMALT=1;ODDS=721.676;PAIRED=0.893204;PAIREDR=0.842105;PAO=0;PQA=0;PQR=0;PRO=0;QA=17343;QR=521;RO=19;RPL=526;RPP=664.839;RPPR=8.61041;RPR=92;RUN=1;SAF=145;SAP=381.029;SAR=473;SF=0,1;SRF=6;SRP=8.61041;SRR=13;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1858;esp6500siv2_ea=0.1716;esp6500siv2_all=0.1858;esp6500siv2_ea=0.1716;1000g2015aug_all=0.166733;avsnp147=rs3795795;Kaviar_AF=0.172216;Kaviar_AC=26625;Kaviar_AN=154602;ExAC_ALL=0.1916;ExAC_AFR=0.2323;ExAC_AMR=0.3333;ExAC_EAS=0.1608;ExAC_FIN=0.1609;ExAC_NFE=0.1894;ExAC_OTH=0.1907;ExAC_SAS=0.1109;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6479;dpsi_zscore=-1.227;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1867;gnomAD_exome_AFR=0.2261;gnomAD_exome_AMR=0.3110;gnomAD_exome_ASJ=0.2100;gnomAD_exome_EAS=0.1507;gnomAD_exome_FIN=0.1531;gnomAD_exome_NFE=0.1765;gnomAD_exome_OTH=0.1869;gnomAD_exome_SAS=0.1045;gnomAD_genome_ALL=0.1861;gnomAD_genome_AFR=0.2269;gnomAD_genome_AMR=0.2967;gnomAD_genome_ASJ=0.1833;gnomAD_genome_EAS=0.1374;gnomAD_genome_FIN=0.1620;gnomAD_genome_NFE=0.1683;gnomAD_genome_OTH=0.1694;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1323.42,-152.413,0:671:19:618:17343:521 . . . 1/1:-1639.83,-201.456,0:850:19:780:21545:498 1/1:-972.75,-121.941,0:519:14:474:12996:337 0/1:-516.32,0,-674.428:727:370:334:9393:11602 0/1:-361.899,0,-742.066:672:381:260:7352:12131 . 0/1:-365.697,0,-540.088:563:298:251:6853:9379 . 0/1:-342.968,0,-638.565:589:333:233:6443:10407 . . . . . . . . . 0/1:-258.888,0,-382.842:409:216:181:5026:6581 0/1:-560.023,0,-718.115:795:389:365:10081:12241 . 0/1:-401.397,0,-514.887:595:292:272:7299:9112 . . 0/1:-363.094,0,-544.737:551:287:253:6775:9235 . . 0/1:-377.882,0,-629.866:612:334:255:7131:10434 . . . . . 0/1:-368.952,0,-465.934:500:241:243:6537:7691 1/1:-1179.45,-148.049,0:629:15:583:15863:397 . 0/1:-594.646,0,-647.513:745:351:370:10256:11005 . . 0/1:-430.806,0,-610.032:633:329:275:7753:10308 . . . 0/1:-312.786,0,-398.346:433:216:205:5660:6770 . . . . 0/1:-467.772,0,-765.905:728:383:319:8509:12145 . . . . 0/1:-267.565,0,-398.417:445:224:198:5188:7084 . . 0/1:-386.312,0,-430.702:542:259:262:7008:7910 . . 0/1:-341.891,0,-474.846:507:262:222:6149:8084 0/1:-521.699,0,-771.441:822:430:360:9854:13259 . . . 1/1:-1260.48,-152.329,0:693:20:627:16998:540 0/1:-461.072,0,-634.348:679:341:309:8409:10589 0/1:-426.53,0,-647.386:678:358:297:8142:11144 0/1:-598.96,0,-850.224:863:442:390:10818:13999 0/1:-656.273,0,-694.126:808:377:395:11138:11990 0/1:-251.917,0,-466.667:506:286:204:5468:8509 . . . 0/1:-534.578,0,-656.751:751:375:350:9701:11683 0/1:-335.735,0,-353.977:433:202:214:5768:6344 . 0/1:-549.08,0,-707.183:753:374:348:9798:11824 0/1:-584.359,0,-849.876:870:447:385:10675:14035 0/1:-590.314,0,-649.407:781:369:379:10423:11514 . . 0/1:-470.951,0,-641.218:677:351:303:8273:11042 0/1:-342.169,0,-462.122:490:251:221:6077:7867 . 1/1:-733.139,-94.8214,0:362:6:340:9383:106 0/1:-346.38,0,-559.364:564:298:244:6619:9289 . . . . . . 0/1:-846.484,0,-992.947:885:453:412:12803:14480:453,412 . . 0/1:-486.673,0,-565.491:519:258:249:7530:8259:258,249 . . . 0/1:-622.962,0,-811.088:712:371:323:9643:11933:371,323 . 0/1:-620.328,0,-864.049:747:396:338:9785:12725:396,338 . . . . . 0/1:-705.727,0,-605.447:641:291:343:10332:9278:291,343 . 0/1:-579.677,0,-570.663:568:262:295:8727:8525:262,295 . . chr1 228494696 . G A 6875.64 . AB=0;ABP=0;AC=60;AF=1;AN=100;AO=710;CIGAR=1X;DP=39341;DPB=784;DPRA=0;EPP=10.6563;EPPR=20.744;GTI=0;LEN=1;MEANALT=3;MQM=32.9944;MQMR=28.375;NS=1;NUMALT=1;ODDS=847.987;PAIRED=0.866197;PAIREDR=0.791667;PAO=0;PQA=0;PQR=0;PRO=0;QA=18397;QR=487;RO=24;RPL=185;RPP=356.563;RPPR=6.26751;RPR=525;RUN=1;SAF=399;SAP=26.6946;SAR=311;SF=0,1;SRF=18;SRP=16.0391;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12021A:p.A4007A,OBSCN:NM_052843:exon45:c.G12021A:p.A4007A,OBSCN:NM_001271223:exon56:c.G14892A:p.A4964A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2547;esp6500siv2_ea=0.1945;esp6500siv2_all=0.2547;esp6500siv2_ea=0.1945;1000g2015aug_all=0.308506;avsnp147=rs4653939;Kaviar_AF=0.239111;Kaviar_AC=36967;Kaviar_AN=154602;ExAC_ALL=0.3186;ExAC_AFR=0.4404;ExAC_AMR=0.4894;ExAC_EAS=0.5720;ExAC_FIN=0.3068;ExAC_NFE=0.2636;ExAC_OTH=0.2964;ExAC_SAS=0.2037;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0650;dpsi_zscore=-0.328;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2603;gnomAD_exome_AFR=0.3875;gnomAD_exome_AMR=0.3859;gnomAD_exome_ASJ=0.2307;gnomAD_exome_EAS=0.5271;gnomAD_exome_FIN=0.2099;gnomAD_exome_NFE=0.2031;gnomAD_exome_OTH=0.2398;gnomAD_exome_SAS=0.1673;gnomAD_genome_ALL=0.2681;gnomAD_genome_AFR=0.3731;gnomAD_genome_AMR=0.3687;gnomAD_genome_ASJ=0.2252;gnomAD_genome_EAS=0.5;gnomAD_genome_FIN=0.2176;gnomAD_genome_NFE=0.1925;gnomAD_genome_OTH=0.2133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1382.23,-184.339,0:784:24:710:18397:487 . . . 1/1:-2020.19,-267.051,0:1136:28:1029:26512:659 1/1:-1028.37,-134.493,0:577:17:525:13735:370 0/1:-590.874,0,-840.748:973:476:449:11141:14406 0/1:-341.871,0,-887.619:743:444:275:7114:13784 . 0/1:-383.042,0,-664.6:719:380:312:7663:11509 . 0/1:-472.734,0,-678.284:738:378:339:8685:11515 . . 0/1:-820.807,0,-1076.39:1204:599:560:14579:18041 . . . . . . 0/1:-224.134,0,-471.101:435:245:177:4716:7457 1/1:-1765.94,-222.731,0:1017:40:901:23310:880 . 0/1:-355.322,0,-591.836:649:334:287:7255:10087 . . 1/1:-1059.73,-138.386,0:660:30:585:14626:652 . . 0/1:-483.95,0,-610.515:737:355:357:8991:10884 0/1:-433.728,0,-946.749:864:491:345:8935:15080 . . . . 0/1:-376.972,0,-475.335:532:272:244:6579:8344 1/1:-1194.04,-135.977,0:713:41:625:15969:827 . 0/1:-530.198,0,-741.942:805:416:366:9561:12797 0/1:-540.927,0,-669.949:814:398:378:9997:11681 . 0/1:-413.421,0,-602.08:654:338:282:7558:10336 . . . 1/1:-893.661,-109.912,0:490:19:443:11276:469 . . 0/1:-561.944,0,-755.256:870:432:402:10410:12987 . 0/1:-575.59,0,-673.734:787:374:388:10181:11605 . . 0/1:-406.733,0,-616.363:643:336:286:7360:10009 0/1:-591.358,0,-744.334:865:425:396:10426:12693 0/1:-234.416,0,-450.207:461:256:189:5102:7958 . . 0/1:-343.247,0,-516.174:593:292:277:6797:8681 . . 0/1:-331.535,0,-580.339:590:321:246:6466:9716 0/1:-617.241,0,-812.037:908:446:427:11083:13570 . . . 1/1:-1597.23,-209.219,0:952:39:840:20588:690 0/1:-610.065,0,-649.463:825:386:414:10713:11531 0/1:-512.443,0,-766.558:846:432:378:9714:13234 1/1:-1819.57,-232.719,0:1005:35:913:23607:668 0/1:-546.266,0,-649.634:806:380:401:10226:11445 0/1:-292.884,0,-452.106:575:296:255:6352:8385 0/1:-374.455,0,-497.022:575:288:271:6970:8809 . . 0/1:-370.51,0,-874.692:792:448:304:7720:13832 0/1:-315.01,0,-438.656:503:250:233:5955:7748 . 0/1:-466.456,0,-807.18:809:446:335:8810:13545 0/1:-701.737,0,-967.773:1058:514:500:12773:15787 0/1:-663.645,0,-915.592:1050:505:494:12651:15145 . . 0/1:-426.542,0,-871.666:800:468:296:8353:14399 0/1:-390.753,0,-507.543:573:276:274:6916:8556 . 1/1:-865.397,-119.027,0:478:9:435:11062:192 0/1:-381.407,0,-591.811:629:327:280:7169:10025 . . . . . . 0/1:-1208.66,0,-1305.05:1246:618:612:18322:19546:618,612 . . 0/1:-750.615,0,-958.872:860:450:399:11735:14167:450,399 . . . 0/1:-926.83,0,-1251.9:1088:580:484:14444:18363:580,484 . 0/1:-1084.15,0,-1222.94:1136:568:554:16606:18145:568,554 . . . . . 0/1:-1002.2,0,-1096.8:1019:517:485:15095:16179:517,485 . 0/1:-729.319,0,-844.423:755:383:362:11061:12425:383,362 . . chr1 228494790 . G A 17160.08 . AB=0.467161;ABP=11.8526;AC=91;AF=0.5;AN=140;AO=441;CIGAR=1X;DP=94295;DPB=944;DPRA=0;EPP=32.2045;EPPR=36.4691;GTI=0;LEN=1;MEANALT=3;MQM=34.6644;MQMR=35.8542;NS=1;NUMALT=1;ODDS=1682.72;PAIRED=0.836735;PAIREDR=0.845833;PAO=0;PQA=0;PQR=0;PRO=0;QA=13226;QR=15491;RO=480;RPL=228;RPP=4.11819;RPPR=22.7164;RPR=213;RUN=1;SAF=239;SAP=9.75122;SAR=202;SF=0,1;SRF=258;SRP=8.87328;SRR=222;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12115A:p.G4039R,OBSCN:NM_052843:exon45:c.G12115A:p.G4039R,OBSCN:NM_001271223:exon56:c.G14986A:p.G4996R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3663;esp6500siv2_ea=0.4939;esp6500siv2_all=0.3663;esp6500siv2_ea=0.4939;1000g2015aug_all=0.26857;avsnp147=rs435776;Kaviar_AF=0.393889;Kaviar_AC=60896;Kaviar_AN=154602;ExAC_ALL=0.4091;ExAC_AFR=0.1020;ExAC_AMR=0.3351;ExAC_EAS=0.2060;ExAC_FIN=0.5709;ExAC_NFE=0.4976;ExAC_OTH=0.4180;ExAC_SAS=0.3271;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.558;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.12;MutationAssessor_pred=L;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-1.94;PROVEAN_pred=N;VEST3_score=0.233;CADD_raw=2.944;CADD_phred=22.0;DANN_score=0.684;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=0.336;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.239;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.364;GDI_full_10282015=.;dpsi_max_tissue=-0.3131;dpsi_zscore=-0.872;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4111;gnomAD_exome_AFR=0.0995;gnomAD_exome_AMR=0.3482;gnomAD_exome_ASJ=0.4052;gnomAD_exome_EAS=0.2026;gnomAD_exome_FIN=0.5616;gnomAD_exome_NFE=0.4972;gnomAD_exome_OTH=0.4354;gnomAD_exome_SAS=0.3281;gnomAD_genome_ALL=0.3878;gnomAD_genome_AFR=0.1142;gnomAD_genome_AMR=0.3684;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.5633;gnomAD_genome_NFE=0.5210;gnomAD_genome_OTH=0.4744;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-742.007,0,-946.895:944:480:441:13226:15491 . 1/1:-2559.11,-311.042,0:1188:19:1131:33796:499 0/1:-563.987,0,-728.483:762:398:348:10073:12224 0/1:-1137.96,0,-1316.7:1419:712:679:20284:22125 . . 0/1:-1340.15,0,-1526.26:1634:826:773:22871:25754 0/1:-1092.67,0,-1000.51:1179:534:618:18374:17049 1/1:-2601.25,-286.549,0:1205:28:1150:34602:801 0/1:-983.754,0,-1135.37:1205:618:564:16936:19290 0/1:-1043.72,0,-1102.2:1189:573:587:17699:18075 0/1:-981.007,0,-1128.82:1185:592:568:17056:18610 1/1:-2303.14,-276.225,0:1092:19:1028:30478:473 . . 1/1:-1868.26,-208.631,0:893:24:844:25102:699 . 0/1:-999.094,0,-1014.47:1129:536:561:16816:16898 . 1/1:-2505.25,-295.946,0:1124:15:1074:32088:440 0/1:-1005.92,0,-1270.34:1279:643:601:17520:20361 . . . 0/1:-792.519,0,-898.973:1027:503:491:14168:15730 . 1/1:-2653.38,-309.218,0:1201:25:1147:34216:615 . 1/1:-2164.74,-261.778,0:977:14:945:28103:312 1/1:-2250.94,-243.602,0:1000:22:959:29376:660 . . 1/1:-3847.67,-490.38,0:1783:13:1706:50223:363 0/1:-895.335,0,-1179:1166:609:535:16133:19296 1/1:-3474.03,-412.783,0:1562:22:1482:44582:538 0/1:-1602.56,0,-1884.96:2059:1034:979:28825:31782 0/1:-761.904,0,-945.716:934:473:447:13314:15078 . 0/1:-935.349,0,-949.082:1065:508:532:15751:15896 0/1:-1134.95,0,-1244:1329:656:647:19507:20639 . . . 0/1:-1026.92,0,-1281.97:1292:677:587:17661:21270 . 1/1:-2941.91,-365.108,0:1327:9:1274:37863:245 . . . 0/1:-1201.5,0,-1394.65:1450:719:697:20863:23083 0/1:-999.531,0,-1068.2:1214:591:595:17171:18379 . 1/1:-3618.18,-456.192,0:1655:15:1583:46887:325 1/1:-2159.5,-275.063,0:1016:9:967:28046:236 . . . 0/1:-794.611,0,-939.882:1035:516:485:14157:15960 1/1:-3677.88,-438.39,0:1698:24:1610:47606:650 . 0/1:-1338.92,0,-1561.81:1633:813:788:22986:25725 0/1:-1204.62,0,-1394.96:1456:730:695:20546:22836 . 0/1:-1329.29,0,-1541.73:1573:792:746:22403:25274 1/1:-3289.2,-405.589,0:1483:16:1424:43069:398 0/1:-527.603,0,-835.869:804:431:353:10165:13577 0/1:-1111.46,0,-1275.18:1342:671:638:19079:21416 . . 0/1:-1198.75,0,-1336.19:1444:710:698:20540:22584 . 0/1:-897.857,0,-1313.91:1279:682:569:16589:21252 . 0/1:-870.496,0,-1056.83:1080:542:510:15175:17523 0/1:-1576.97,0,-1629.79:1849:868:931:27571:27214 0/1:-1221.3,0,-1422.58:1514:754:725:21134:23892 0/1:-1329.01,0,-1265.56:1457:685:744:21977:21810 0/1:-622.557,0,-779.808:799:406:378:11141:13125 1/1:-1800.81,-208.344,0:825:15:788:23419:408 . . . . 0/1:-1054.57,0,-1171.82:1294:640:625:18444:19774 0/1:-1160.55,0,-1192.91:1300:627:646:19415:19884 0/1:-655.654,0,-841.88:862:442:400:11833:13826 1/1:-3160.11,-345.115,0:1499:41:1409:41041:1143 . . 0/1:-1399.68,0,-1585.82:1688:837:818:24293:26657 0/1:-1091.56,0,-1213.95:1308:634:646:19092:20216 0/1:-1266.83,0,-1525.7:1529:776:732:21952:24712 0/1:-1284.78,0,-1543.09:1626:815:764:23074:25475 0/1:-1312.18,0,-1451.98:1551:769:750:22646:24127 . . 0/1:-1748.26,0,-1670:1619:784:817:26130:24932:784,817 0/1:-1792.06,0,-1834.05:1699:838:845:26911:27112:838,845 . . 1/1:-4856.35,-495.71,0:1786:15:1766:56943:484:15,1766 0/1:-1710.99,0,-1796.27:1639:821:802:25686:26586:821,802 . 0/1:-1543.37,0,-1712.08:1523:778:737:23313:24997:778,737 . 0/1:-2078.72,0,-1904.51:1878:889:969:30712:28674:889,969 0/1:-1437.81,0,-1443.64:1340:668:667:21427:21411:668,667 1/1:-4146.66,-413.835,0:1553:19:1514:48798:554:19,1514 0/1:-1507.81,0,-1567.06:1430:714:707:22591:23264:714,707 0/1:-1791.21,0,-1791.79:1666:817:837:26848:26603:817,837 . 0/1:-1853,0,-1893.86:1749:878:857:27527:28120:878,857 . 1/1:-3362.85,-347.191,0:1257:12:1235:39550:351:12,1235 1/1:-4743.47,-483.414,0:1744:13:1724:55648:460:13,1724 chr1 228495983 . G A 9263.05 . AB=0.443639;ABP=44.8666;AC=1;AF=0.5;AN=2;AO=673;CIGAR=1X;DP=1517;DPB=1517;DPRA=0;EPP=7.91789;EPPR=16.4449;GTI=0;LEN=1;MEANALT=3;MQM=33.6627;MQMR=35.3927;NS=1;NUMALT=1;ODDS=2132.9;PAIRED=0.879643;PAIREDR=0.892677;PAO=0;PQA=0;PQR=0;PRO=0;QA=18190;QR=24173;RO=792;RPL=409;RPP=70.8486;RPPR=66.3559;RPR=264;RUN=1;SAF=287;SAP=34.6338;SAR=386;SF=0;SRF=349;SRP=27.2365;SRR=443;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.G12638A:p.R4213H,OBSCN:NM_052843:exon47:c.G12638A:p.R4213H,OBSCN:NM_001271223:exon58:c.G15509A:p.R5170H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;1000g2015aug_all=.;avsnp147=rs56306215;Kaviar_AF=0.0012225;Kaviar_AC=189;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0001;ExAC_AMR=8.772e-05;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0023;ExAC_OTH=0.0012;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.157;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.926;Polyphen2_HVAR_pred=D;LRT_score=0.203;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=N;MutationAssessor_score=1.01;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-1.46;PROVEAN_pred=N;VEST3_score=0.208;CADD_raw=2.180;CADD_phred=17.37;DANN_score=0.994;fathmm-MKL_coding_score=0.724;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.810;MetaSVM_pred=T;MetaLR_score=0.288;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=4.08;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.028;phastCons20way_mammalian=0.086;SiPhy_29way_logOdds=6.249;GDI_full_10282015=.;dpsi_max_tissue=-1.9280;dpsi_zscore=-1.877;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=8.939e-05;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0025;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-947.109,0,-1457.21:1517:792:673:18190:24173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228496013 . C T 7087.37 . AB=0.424497;ABP=62.0335;AC=2;AF=0.5;AN=4;AO=506;CIGAR=1X;DP=2129;DPB=1192;DPRA=0;EPP=27.7977;EPPR=111.873;GTI=0;LEN=1;MEANALT=3;MQM=34.7273;MQMR=34.0491;NS=1;NUMALT=1;ODDS=1530.42;PAIRED=0.911067;PAIREDR=0.898734;PAO=0;PQA=0;PQR=0;PRO=0;QA=12749;QR=18537;RO=632;RPL=315;RPP=68.9956;RPPR=54.1498;RPR=191;RUN=1;SAF=226;SAP=15.5242;SAR=280;SF=0,1;SRF=288;SRP=13.7852;SRR=344;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.C12668T:p.T4223M,OBSCN:NM_052843:exon47:c.C12668T:p.T4223M,OBSCN:NM_001271223:exon58:c.C15539T:p.T5180M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000599042;avsnp147=rs147355183;Kaviar_AF=0.0004916;Kaviar_AC=76;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0.0007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=0.814;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.21;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.739;MutationTaster_pred=N;MutationAssessor_score=2.36;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_pred=N;VEST3_score=0.4;CADD_raw=4.963;CADD_phred=25.1;DANN_score=0.949;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.224;MetaSVM_pred=T;MetaLR_score=0.274;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=5.14;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.061;phastCons7way_vertebrate=0.757;phastCons20way_mammalian=0.174;SiPhy_29way_logOdds=15.222;GDI_full_10282015=.;dpsi_max_tissue=-0.7996;dpsi_zscore=-1.344;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-686.049,0,-1085.2:1192:632:506:12749:18537 . . . . . . . . . . . . . . . . . . 0/1:-948.472,0,-957.054:937:448:478:14234:14305:448,478 . . . . . . . . . . . . . . . chr1 228496014 . G A 7830.10 . AB=0;ABP=0;AC=51;AF=1;AN=90;AO=1058;CIGAR=1X;DP=45326;DPB=1201;DPRA=0;EPP=69.5091;EPPR=53.9075;GTI=0;LEN=1;MEANALT=3;MQM=34.7958;MQMR=29.0976;NS=1;NUMALT=1;ODDS=1248.71;PAIRED=0.871456;PAIREDR=0.853659;PAO=0;PQA=0;PQR=0;PRO=0;QA=26688;QR=815;RO=41;RPL=616;RPP=65.1497;RPPR=26.3669;RPR=442;RUN=1;SAF=431;SAP=81.8565;SAR=627;SF=0,1;SRF=30;SRP=22.1298;SRR=11;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.G12669A:p.T4223T,OBSCN:NM_052843:exon47:c.G12669A:p.T4223T,OBSCN:NM_001271223:exon58:c.G15540A:p.T5180T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2246;esp6500siv2_ea=0.1772;esp6500siv2_all=0.2246;esp6500siv2_ea=0.1772;1000g2015aug_all=0.213059;avsnp147=rs876180;Kaviar_AF=0.192514;Kaviar_AC=29763;Kaviar_AN=154602;ExAC_ALL=0.2387;ExAC_AFR=0.3643;ExAC_AMR=0.4388;ExAC_EAS=0.2186;ExAC_FIN=0.2009;ExAC_NFE=0.2152;ExAC_OTH=0.2222;ExAC_SAS=0.1391;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7095;dpsi_zscore=-1.277;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2100;gnomAD_exome_AFR=0.3347;gnomAD_exome_AMR=0.3759;gnomAD_exome_ASJ=0.2181;gnomAD_exome_EAS=0.1838;gnomAD_exome_FIN=0.1540;gnomAD_exome_NFE=0.1819;gnomAD_exome_OTH=0.2036;gnomAD_exome_SAS=0.1226;gnomAD_genome_ALL=0.2187;gnomAD_genome_AFR=0.3239;gnomAD_genome_AMR=0.3508;gnomAD_genome_ASJ=0.2020;gnomAD_genome_EAS=0.1766;gnomAD_genome_FIN=0.1640;gnomAD_genome_NFE=0.1705;gnomAD_genome_OTH=0.1772;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2069.24,-271.703,0:1201:41:1058:26688:815 . . . 1/1:-2336.64,-279.491,0:1393:65:1200:30789:1264 1/1:-1596.54,-214.679,0:981:32:859:20925:675 0/1:-776.73,0,-1008.01:1215:598:545:13744:17653 0/1:-482.565,0,-982.529:936:518:369:9512:15531 . 0/1:-536.121,0,-856.837:927:474:396:9952:14457 . 0/1:-515.889,0,-1017.44:986:524:407:10179:16106 . . . . . . . . . 0/1:-370.674,0,-496.303:579:287:259:6530:8652 0/1:-947.965,0,-1202.59:1366:654:639:16607:20023 . 0/1:-427.331,0,-863.164:858:469:344:8565:13987 . . 0/1:-454.043,0,-737.956:799:404:347:8589:12022 . . 0/1:-704.294,0,-1013.91:1130:562:504:12640:17096 . . . . . 0/1:-493.07,0,-678.412:740:361:338:8618:10947 1/1:-1838.72,-244.695,0:1112:36:968:23593:678 . 0/1:-729.311,0,-952.973:1144:544:531:13453:16513 0/1:-566.213,0,-1069.03:1087:577:447:10766:17176 . 0/1:-552.292,0,-847.949:965:470:433:10684:14010 . . . 0/1:-379.344,0,-533.925:617:304:277:6842:8988 . . . . 0/1:-831.191,0,-1065.71:1258:591:590:15109:17845 . . . . 0/1:-417.799,0,-676.854:748:381:310:7854:11407 . . 0/1:-384.986,0,-645.846:702:369:290:7265:10866 . . 0/1:-374.728,0,-629.49:690:353:293:7144:10515 0/1:-822.202,0,-1216.76:1307:665:585:14866:20021 . . . 1/1:-1975.74,-258.894,0:1182:40:1023:25419:777 0/1:-656.558,0,-1052.8:1149:603:473:11998:17634 0/1:-556.605,0,-1018.1:1081:579:441:10804:16684 0/1:-796.209,0,-1313.61:1353:699:585:14873:21481 0/1:-653.041,0,-1257.84:1201:643:492:12627:19614 0/1:-339.451,0,-633.218:760:402:297:7491:11300 0/1:-615.434,0,-784.123:928:454:430:11204:13364 . . 0/1:-657.472,0,-1176.98:1216:645:496:12431:19426 0/1:-485.489,0,-655.598:789:385:364:8850:11708 . 0/1:-714.68,0,-1026.36:1170:581:518:13031:17199 0/1:-752.319,0,-949.624:1184:550:551:13599:16369 0/1:-822.064,0,-1102.92:1291:614:603:15169:18231 . . 0/1:-615.639,0,-965.029:1060:541:463:11467:15899 0/1:-525.933,0,-694.074:808:395:373:9224:11722 . 1/1:-1087,-144.986,0:605:19:540:13734:355 0/1:-552.916,0,-770.918:868:431:395:10135:13192 . . . . . . 0/1:-1050.77,0,-1441.51:1231:662:540:16347:20786:662,540 . . 0/1:-746.384,0,-811.868:773:384:373:11173:12051:384,373 . . . 0/1:-938.524,0,-1129.74:1049:525:498:14406:16598:525,498 . 0/1:-907.438,0,-1026.61:963:480:457:13823:15129:480,457 . . . . . 0/1:-862.427,0,-1009.82:942:487:442:13127:15130:487,442 . 0/1:-940.458,0,-1023.57:982:482:473:14261:15300:482,473 . . chr1 228496023 . C T 10816.30 . AB=0.536873;ABP=15.0207;AC=1;AF=0.5;AN=2;AO=546;CIGAR=1X;DP=1017;DPB=1017;DPRA=0;EPP=68.1704;EPPR=91.8041;GTI=0;LEN=1;MEANALT=3;MQM=39.9579;MQMR=40.5185;NS=1;NUMALT=1;ODDS=2166.06;PAIRED=0.961538;PAIREDR=0.976035;PAO=0;PQA=0;PQR=0;PRO=0;QA=16590;QR=14814;RO=459;RPL=393;RPP=232.089;RPPR=134.95;RPR=153;RUN=1;SAF=210;SAP=66.15;SAR=336;SF=1;SRF=190;SRP=32.5357;SRR=269;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.C12678T:p.D4226D,OBSCN:NM_052843:exon47:c.C12678T:p.D4226D,OBSCN:NM_001271223:exon58:c.C15549T:p.D5183D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs368833656;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.5290;dpsi_zscore=-1.729;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.027e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.684e-05;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.313e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1127.85,0,-975.656:1017:459:546:16590:14814:459,546 . . . . . . . . . . . . . . . . . chr1 228496066 . G T 3575.62 . AB=0.477454;ABP=6.33951;AC=2;AF=0.5;AN=4;AO=360;CIGAR=1X;DP=1273;DPB=754;DPRA=0;EPP=3.22745;EPPR=3.47195;GTI=0;LEN=1;MEANALT=3;MQM=33.6333;MQMR=36.9003;NS=1;NUMALT=1;ODDS=1079.94;PAIRED=0.919444;PAIREDR=0.955381;PAO=0;PQA=0;PQR=0;PRO=0;QA=9356;QR=11239;RO=381;RPL=295;RPP=322.096;RPPR=350.725;RPR=65;RUN=1;SAF=124;SAP=78.674;SAR=236;SF=0;SRF=121;SRP=113.128;SRR=260;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.G12721T:p.A4241S,OBSCN:NM_052843:exon47:c.G12721T:p.A4241S,OBSCN:NM_001271223:exon58:c.G15592T:p.A5198S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0234;esp6500siv2_ea=0.0313;esp6500siv2_all=0.0234;esp6500siv2_ea=0.0313;1000g2015aug_all=0.00638978;avsnp147=rs55704206;Kaviar_AF=0.0221343;Kaviar_AC=3422;Kaviar_AN=154602;ExAC_ALL=0.0403;ExAC_AFR=0.0081;ExAC_AMR=0.0115;ExAC_EAS=0;ExAC_FIN=0.0720;ExAC_NFE=0.0628;ExAC_OTH=0.0321;ExAC_SAS=0.0063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.073;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.91;MutationAssessor_pred=M;FATHMM_score=3.34;FATHMM_pred=T;PROVEAN_score=-2.37;PROVEAN_pred=N;VEST3_score=0.469;CADD_raw=4.677;CADD_phred=24.5;DANN_score=0.994;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.195;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_pred=T;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=6.04;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.114;phastCons20way_mammalian=0.613;SiPhy_29way_logOdds=20.190;GDI_full_10282015=.;dpsi_max_tissue=0.4748;dpsi_zscore=1.107;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0249;gnomAD_exome_AFR=0.0057;gnomAD_exome_AMR=0.0082;gnomAD_exome_ASJ=0.0077;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0399;gnomAD_exome_NFE=0.0418;gnomAD_exome_OTH=0.0246;gnomAD_exome_SAS=0.0047;gnomAD_genome_ALL=0.0295;gnomAD_genome_AFR=0.0064;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.01;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0473;gnomAD_genome_NFE=0.0431;gnomAD_genome_OTH=0.0305;Whole_Blood=Whole_Blood::0.0392954::0.341524;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-518.922,0,-694.234:754:381:360:9356:11239 0/1:-279.861,0,-437.154:519:279:227:6173:7626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228497271 . C A 7472.78 . AB=0.478794;ABP=7.15472;AC=1;AF=0.5;AN=2;AO=508;CIGAR=1X;DP=1061;DPB=1061;DPRA=0;EPP=7.95168;EPPR=32.4454;GTI=0;LEN=1;MEANALT=3;MQM=33.5886;MQMR=34.1107;NS=1;NUMALT=1;ODDS=1720.67;PAIRED=0.891732;PAIREDR=0.879925;PAO=0;PQA=0;PQR=0;PRO=0;QA=14174;QR=15529;RO=533;RPL=356;RPP=180.9;RPPR=56.8897;RPR=152;RUN=1;SAF=231;SAP=12.0553;SAR=277;SF=0;SRF=261;SRP=3.50326;SRR=272;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0041;1000g2015aug_all=0.000599042;avsnp147=rs201096268;Kaviar_AF=0.0020763;Kaviar_AC=321;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0008;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0032;ExAC_OTH=0.0045;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2707;dpsi_zscore=-0.808;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0148;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0026;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0021;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-775.029,0,-881.235:1061:533:508:14174:15529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228497286 . C A 6368.48 . AB=0.453401;ABP=25.4744;AC=9;AF=0.5;AN=18;AO=540;CIGAR=1X;DP=8099;DPB=1191;DPRA=0;EPP=5.72866;EPPR=4.37172;GTI=0;LEN=1;MEANALT=3;MQM=35.1037;MQMR=35.8339;NS=1;NUMALT=1;ODDS=1919.36;PAIRED=0.92037;PAIREDR=0.901254;PAO=0;PQA=0;PQR=0;PRO=0;QA=15168;QR=19575;RO=638;RPL=328;RPP=57.1202;RPPR=62.314;RPR=212;RUN=1;SAF=259;SAP=4.95658;SAR=281;SF=0;SRF=334;SRP=6.07351;SRR=304;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0275;esp6500siv2_ea=0.0188;esp6500siv2_all=0.0275;esp6500siv2_ea=0.0188;1000g2015aug_all=0.0932508;avsnp147=rs56852844;Kaviar_AF=0.0477484;Kaviar_AC=7382;Kaviar_AN=154602;ExAC_ALL=0.0512;ExAC_AFR=0.0451;ExAC_AMR=0.0086;ExAC_EAS=0.3417;ExAC_FIN=0.0565;ExAC_NFE=0.0227;ExAC_OTH=0.0402;ExAC_SAS=0.0469;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4192;dpsi_zscore=-1.006;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0500;gnomAD_exome_AFR=0.0439;gnomAD_exome_AMR=0.0099;gnomAD_exome_ASJ=0.0130;gnomAD_exome_EAS=0.3425;gnomAD_exome_FIN=0.0562;gnomAD_exome_NFE=0.0218;gnomAD_exome_OTH=0.0348;gnomAD_exome_SAS=0.0447;gnomAD_genome_ALL=0.0471;gnomAD_genome_AFR=0.0413;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.3209;gnomAD_genome_FIN=0.0533;gnomAD_genome_NFE=0.0224;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-849.273,0,-1216.18:1191:638:540:15168:19575 . . . . . . . 0/1:-799.353,0,-1096.84:1109:591:510:14120:18050 . . . . 0/1:-530.009,0,-545.152:672:315:351:9367:9574 . . . 0/1:-657.493,0,-805.316:895:458:424:11735:13804 . . . . . . . . . . . . . . 0/1:-342.321,0,-449.241:476:251:219:6113:7570 . . 0/1:-732.596,0,-922.845:991:518:462:12882:15531 . . . . 0/1:-437.139,0,-682.764:631:352:272:7719:10892 0/1:-678.482,0,-1017.9:983:527:451:12339:16379 . . . . . . . . . . . . . . 0/1:-856.344,0,-1159.5:1151:615:526:14796:19114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228503566 . G A 3382.44 . AB=0.467176;ABP=9.14015;AC=2;AF=0.5;AN=4;AO=306;CIGAR=1X;DP=1167;DPB=655;DPRA=0;EPP=68.4099;EPPR=73.8938;GTI=0;LEN=1;MEANALT=3;MQM=30.4608;MQMR=30.8615;NS=1;NUMALT=1;ODDS=885.084;PAIRED=0.915033;PAIREDR=0.864615;PAO=0;PQA=0;PQR=0;PRO=0;QA=8690;QR=10104;RO=325;RPL=73;RPP=184.676;RPPR=193.839;RPR=233;RUN=1;SAF=248;SAP=259.187;SAR=58;SF=0;SRF=248;SRP=198.383;SRR=77;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13031A:p.R4344Q,OBSCN:NM_052843:exon50:c.G13031A:p.R4344Q,OBSCN:NM_001271223:exon61:c.G15902A:p.R5301Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0275;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0275;esp6500siv2_ea=0.0017;1000g2015aug_all=0.033746;avsnp147=rs79023478;Kaviar_AF=0.0094695;Kaviar_AC=1464;Kaviar_AN=154602;ExAC_ALL=0.0116;ExAC_AFR=0.1202;ExAC_AMR=0.0053;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0021;ExAC_OTH=0.0059;ExAC_SAS=0.0068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.521;SIFT_pred=T;Polyphen2_HDIV_score=0.133;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.118;LRT_pred=N;MutationTaster_score=0.980;MutationTaster_pred=P;MutationAssessor_score=-0.015;MutationAssessor_pred=N;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-0.78;PROVEAN_pred=N;VEST3_score=0.23;CADD_raw=1.362;CADD_phred=12.59;DANN_score=0.832;fathmm-MKL_coding_score=0.752;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.931;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=3.98;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.031;phastCons7way_vertebrate=0.814;phastCons20way_mammalian=0.740;SiPhy_29way_logOdds=6.299;GDI_full_10282015=.;dpsi_max_tissue=-0.1010;dpsi_zscore=-0.452;hgmdCODING=HGMD::Cardiomyopathy,_hypertrophic#17716621;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM074391#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0085;gnomAD_exome_AFR=0.1003;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0064;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0081;gnomAD_exome_SAS=0.0047;gnomAD_genome_ALL=0.0271;gnomAD_genome_AFR=0.0924;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-445.176,0,-531.958:655:325:306:8690:10104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-332.151,0,-451.933:512:262:233:6601:8424 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228503580 . G A 2248.50 . AB=0.436782;ABP=18.1108;AC=1;AF=0.5;AN=2;AO=190;CIGAR=1X;DP=435;DPB=435;DPRA=0;EPP=36.3367;EPPR=106.649;GTI=0;LEN=1;MEANALT=3;MQM=29.7211;MQMR=30.9957;NS=1;NUMALT=1;ODDS=517.736;PAIRED=0.873684;PAIREDR=0.900433;PAO=0;PQA=0;PQR=0;PRO=0;QA=5524;QR=7192;RO=231;RPL=53;RPP=83.6519;RPPR=114.695;RPR=137;RUN=1;SAF=155;SAP=167.585;SAR=35;SF=0;SRF=183;SRP=174.331;SRR=48;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13045A:p.V4349M,OBSCN:NM_052843:exon50:c.G13045A:p.V4349M,OBSCN:NM_001271223:exon61:c.G15916A:p.V5306M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.96;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=1.255;MutationAssessor_pred=L;FATHMM_score=3.35;FATHMM_pred=T;PROVEAN_score=-1.77;PROVEAN_pred=N;VEST3_score=0.502;CADD_raw=3.941;CADD_phred=23.5;DANN_score=0.987;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.167;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.89;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.749;SiPhy_29way_logOdds=11.548;GDI_full_10282015=.;dpsi_max_tissue=0.1331;dpsi_zscore=0.576;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.347e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-262.17,0,-388.702:435:231:190:5524:7192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228503677 . A G 12749.43 . AB=0.48301;ABP=5.07636;AC=152;AF=0.5;AN=208;AO=398;CIGAR=1X;DP=101430;DPB=824;DPRA=0;EPP=25.3579;EPPR=28.5949;GTI=0;LEN=1;MEANALT=3;MQM=29.9573;MQMR=33.8583;NS=1;NUMALT=1;ODDS=1240.99;PAIRED=0.922111;PAIREDR=0.863517;PAO=0;PQA=0;PQR=0;PRO=0;QA=10753;QR=10408;RO=381;RPL=214;RPP=7.92066;RPPR=35.0694;RPR=184;RUN=1;SAF=229;SAP=22.6518;SAR=169;SF=0,1;SRF=208;SRP=9.99207;SRR=173;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.A13142G:p.H4381R,OBSCN:NM_052843:exon50:c.A13142G:p.H4381R,OBSCN:NM_001271223:exon61:c.A16013G:p.H5338R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7499;esp6500siv2_ea=0.7056;esp6500siv2_all=0.7499;esp6500siv2_ea=0.7056;1000g2015aug_all=0.700879;avsnp147=rs1150912;Kaviar_AF=0.63267;Kaviar_AC=97812;Kaviar_AN=154602;ExAC_ALL=0.7014;ExAC_AFR=0.8324;ExAC_AMR=0.7588;ExAC_EAS=0.7335;ExAC_FIN=0.7888;ExAC_NFE=0.7111;ExAC_OTH=0.6720;ExAC_SAS=0.5181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.160;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.435;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_pred=T;PROVEAN_score=-0.1;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-2.279;CADD_phred=0.001;DANN_score=0.651;fathmm-MKL_coding_score=0.053;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=-6.7;phyloP7way_vertebrate=-0.935;phyloP20way_mammalian=-1.090;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=11.509;GDI_full_10282015=.;dpsi_max_tissue=0.0635;dpsi_zscore=0.356;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6901;gnomAD_exome_AFR=0.8269;gnomAD_exome_AMR=0.7489;gnomAD_exome_ASJ=0.6373;gnomAD_exome_EAS=0.7239;gnomAD_exome_FIN=0.7677;gnomAD_exome_NFE=0.6950;gnomAD_exome_OTH=0.6792;gnomAD_exome_SAS=0.4940;gnomAD_genome_ALL=0.7537;gnomAD_genome_AFR=0.8285;gnomAD_genome_AMR=0.7542;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7038;gnomAD_genome_FIN=0.7811;gnomAD_genome_NFE=0.7144;gnomAD_genome_OTH=0.7064;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-550.772,0,-571.153:824:381:398:10753:10408 1/1:-2003.12,-284.336,0:1057:16:1012:27057:362 1/1:-1857.21,-264.795,0:976:10:936:25700:304 0/1:-460.028,0,-421.001:626:278:302:8427:7787 0/1:-684.031,0,-621.956:990:442:495:13026:11938 1/1:-2606.24,-360.176,0:1315:12:1264:34771:318 1/1:-1800.77,-264.824,0:923:3:895:24048:78 1/1:-2071.55,-297.395,0:1088:15:1044:27815:327 1/1:-1804.79,-258.363,0:936:9:897:24289:208 1/1:-2174.18,-305.81,0:1146:16:1090:29238:360 1/1:-1353.06,-192.199,0:742:14:707:19217:331 0/1:-687.18,0,-595.208:939:412:468:12601:11029 1/1:-1651.06,-244.35,0:865:6:840:22364:137 1/1:-1424.39,-213.7,0:757:5:727:19452:121 . 0/1:-1041.37,0,-943.124:1441:640:716:18992:17790 1/1:-1471.9,-196.188,0:765:16:731:19872:396 . 0/1:-707.518,0,-837.227:1092:534:494:13204:14700 . 1/1:-1354.27,-199.841,0:702:7:674:18072:171 0/1:-735.561,0,-698.91:1089:503:519:13889:13280 0/1:-361.085,0,-369.407:523:250:241:6864:6840 1/1:-2441.03,-335.834,0:1242:13:1195:32968:359 . 1/1:-1287.25,-186.782,0:694:8:660:17447:213 . 1/1:-1787.54,-258.972,0:918:7:879:24426:151 1/1:-1332.81,-204.409,0:727:4:699:18449:126 1/1:-1673.75,-229.489,0:825:8:794:22014:194 1/1:-1697.09,-236.137,0:828:8:803:22150:205 0/1:-833.059,0,-718.907:1162:510:582:15408:13766 0/1:-846.774,0,-673.152:1084:471:555:15231:12727 1/1:-1848.16,-268.737,0:952:7:916:24728:149 0/1:-665.04,0,-641.174:930:422:458:12355:11898 1/1:-2033.08,-283.535,0:1046:11:992:27082:251 0/1:-766.667,0,-784.62:1155:530:557:14802:14415 1/1:-1814.3,-249.464,0:881:7:855:23931:145 1/1:-1881.74,-279.607,0:991:8:947:25366:130 0/1:-504.805,0,-534.767:738:348:356:9539:9808 1/1:-2185.89,-320.223,0:1102:3:1072:28987:100 0/1:-684.888,0,-697.255:984:462:477:12959:12650 . 0/1:-593.849,0,-695.754:891:440:408:11233:12191 0/1:-903.062,0,-848.397:1247:555:624:16594:15381 . 1/1:-1958.07,-283.992,0:996:4:961:26318:96 1/1:-1187.54,-168.819,0:606:5:582:15648:110 . . 1/1:-2378.34,-334.851,0:1208:13:1166:31534:297 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1/1:-2431.11,-339.293,0:1200:8:1166:32365:178 0/1:-382.968,0,-302.199:558:224:299:7568:6235 1/1:-1653.65,-229.711,0:803:6:779:21879:106 0/1:-827.23,0,-721.969:1109:500:554:15327:13902 0/1:-899.379,0,-735.776:1163:509:582:16025:13895 1/1:-2272.32,-334.513,0:1192:11:1146:30394:223 1/1:-1358.69,-185.819,0:670:6:650:17915:157 1/1:-1012.5,-142.068,0:531:9:508:13826:214 0/1:-716.923,0,-729.635:1064:497:503:13610:13269 0/1:-882.541,0,-717.404:1193:516:606:16253:14103 0/1:-842.57,0,-702.924:1120:472:581:15625:13096 . 0/1:-563.979,0,-617.571:869:422:395:10957:11676 1/1:-1839.45,-270.463,0:964:7:924:25133:133 1/1:-1524.29,-208.714,0:763:7:733:20364:197 1/1:-1856.61,-270.086,0:952:8:918:24846:204 1/1:-1066.58,-151.643,0:548:5:523:14189:143 0/1:-704.582,0,-620.475:965:429:463:12493:11651 0/1:-1038.86,0,-857.576:1391:590:716:19004:16359 0/1:-597.95,0,-640.524:923:422:439:11660:11547 0/1:-805.345,0,-797.432:1158:531:558:14990:14374 0/1:-768.403,0,-631.662:1054:439:536:14265:11927 0/1:-742.408,0,-763.414:1114:514:528:14250:14384 . 0/1:-1177.49,0,-1220.99:1180:589:578:18078:18566:589,578 0/1:-1175.09,0,-1185.11:1195:588:578:17929:18354:588,578 0/1:-1216.96,0,-1154.31:1198:564:609:18573:17754:564,609 0/1:-677.299,0,-658.952:666:324:334:10349:10115:324,334 . 1/1:-2794.9,-305.74,0:1108:10:1085:33669:294:10,1085 0/1:-1044.84,0,-1114.68:1076:542:514:16108:17137:542,514 0/1:-999.721,0,-1172.76:1102:566:513:15715:17822:566,513 0/1:-1084.54,0,-1022.59:1040:498:531:16357:15672:498,531 0/1:-1066.76,0,-1175.64:1150:577:544:16841:17864:577,544 0/1:-1109.92,0,-1259.81:1183:609:559:17381:18821:609,559 0/1:-818.055,0,-1017.35:893:475:402:12596:14936:475,402 1/1:-2644.16,-302.682,0:1040:2:1021:31315:68:2,1021 0/1:-967.479,0,-973.776:956:461:475:14607:14582:461,475 0/1:-1535.78,0,-1286.11:1407:640:738:22906:19930:640,738 0/1:-1036.04,0,-1032.97:1055:523:520:15920:15996:523,520 0/1:-1258.72,0,-1344.56:1304:642:641:19606:20160:642,641 0/1:-909.541,0,-909.791:922:452:451:13942:13881:452,451 1/1:-2546.52,-246.506,0:1032:22:990:30775:701:22,990 1/1:-3535.37,-379.004,0:1377:12:1342:41742:336:12,1342 chr1 228503711 . G A 6119.50 . AB=0.462567;ABP=16.6662;AC=4;AF=0.5;AN=8;AO=519;CIGAR=1X;DP=4328;DPB=1122;DPRA=0;EPP=149.319;EPPR=107.576;GTI=0;LEN=1;MEANALT=3;MQM=33.1137;MQMR=32.5314;NS=1;NUMALT=1;ODDS=1395.98;PAIRED=0.936416;PAIREDR=0.859048;PAO=0;PQA=0;PQR=0;PRO=0;QA=12143;QR=14603;RO=525;RPL=181;RPP=106.141;RPPR=138.514;RPR=338;RUN=1;SAF=195;SAP=72.6355;SAR=324;SF=0,1;SRF=211;SRP=46.8906;SRR=314;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13176A:p.E4392E,OBSCN:NM_052843:exon50:c.G13176A:p.E4392E,OBSCN:NM_001271223:exon61:c.G16047A:p.E5349E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0327;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0327;1000g2015aug_all=0.0129792;avsnp147=rs116266256;Kaviar_AF=0.0229945;Kaviar_AC=3555;Kaviar_AN=154602;ExAC_ALL=0.0391;ExAC_AFR=0.0078;ExAC_AMR=0.0119;ExAC_EAS=0;ExAC_FIN=0.0525;ExAC_NFE=0.0523;ExAC_OTH=0.0282;ExAC_SAS=0.0343;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0595;dpsi_zscore=0.340;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0257;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.0103;gnomAD_exome_ASJ=0.0136;gnomAD_exome_EAS=6.665e-05;gnomAD_exome_FIN=0.0256;gnomAD_exome_NFE=0.0380;gnomAD_exome_OTH=0.0229;gnomAD_exome_SAS=0.0278;gnomAD_genome_ALL=0.0273;gnomAD_genome_AFR=0.0071;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0244;gnomAD_genome_NFE=0.0432;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-646.66,0,-788.044:1122:525:519:12143:14603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-520.844,0,-561.485:829:368:417:9785:10400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-933.061,0,-1389.94:1228:679:518:15253:20639:679,518 . . . . . 0/1:-987.405,0,-1260.37:1149:605:525:15592:19012:605,525 . chr1 228504472 . T C 17994.88 . AB=0.455437;ABP=22.3639;AC=152;AF=0.5;AN=208;AO=511;CIGAR=1X;DP=144390;DPB=1122;DPRA=0;EPP=42.9934;EPPR=9.16078;GTI=0;LEN=1;MEANALT=3;MQM=30.953;MQMR=31.9702;NS=1;NUMALT=1;ODDS=1510.3;PAIRED=0.861057;PAIREDR=0.81378;PAO=0;PQA=0;PQR=0;PRO=0;QA=13408;QR=14615;RO=537;RPL=166;RPP=139.167;RPPR=76.7069;RPR=345;RUN=1;SAF=245;SAP=4.88431;SAR=266;SF=0,1;SRF=282;SRP=5.95816;SRR=255;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.T13348C:p.C4450R,OBSCN:NM_052843:exon51:c.T13348C:p.C4450R,OBSCN:NM_001271223:exon62:c.T16219C:p.C5407R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7441;esp6500siv2_ea=0.7008;esp6500siv2_all=0.7441;esp6500siv2_ea=0.7008;1000g2015aug_all=0.699281;avsnp147=rs1188732;Kaviar_AF=0.659759;Kaviar_AC=102000;Kaviar_AN=154602;ExAC_ALL=0.6949;ExAC_AFR=0.8259;ExAC_AMR=0.7505;ExAC_EAS=0.7283;ExAC_FIN=0.7761;ExAC_NFE=0.7040;ExAC_OTH=0.6470;ExAC_SAS=0.5033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.458;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.64;MutationAssessor_pred=N;FATHMM_score=0.22;FATHMM_pred=T;PROVEAN_score=0.79;PROVEAN_pred=N;VEST3_score=0.063;CADD_raw=-1.304;CADD_phred=0.004;DANN_score=0.412;fathmm-MKL_coding_score=0.020;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-5.27;phyloP7way_vertebrate=-1.917;phyloP20way_mammalian=-0.364;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=3.614;GDI_full_10282015=.;dpsi_max_tissue=0.2581;dpsi_zscore=0.826;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6931;gnomAD_exome_AFR=0.8231;gnomAD_exome_AMR=0.7511;gnomAD_exome_ASJ=0.6378;gnomAD_exome_EAS=0.7279;gnomAD_exome_FIN=0.7703;gnomAD_exome_NFE=0.6982;gnomAD_exome_OTH=0.6821;gnomAD_exome_SAS=0.4970;gnomAD_genome_ALL=0.7527;gnomAD_genome_AFR=0.8236;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.64;gnomAD_genome_EAS=0.7063;gnomAD_genome_FIN=0.7814;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7090;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-681.403,0,-779.394:1122:537:511:13408:14615 1/1:-2904.18,-426.176,0:1518:19:1467:40276:385 1/1:-2359.11,-351.69,0:1220:7:1190:31922:164 0/1:-581.94,0,-590.366:893:410:419:10809:10815 0/1:-991.881,0,-786.827:1374:575:707:18685:15490 1/1:-3722.62,-539.757,0:1900:17:1846:50586:371 1/1:-2251.03,-332.005,0:1162:7:1133:30582:187 1/1:-2867.05,-437.043,0:1542:14:1502:40072:321 1/1:-2484.87,-355.643,0:1280:13:1226:33181:257 1/1:-3165.84,-454.013,0:1616:16:1573:42621:370 1/1:-2200.41,-325.693,0:1161:11:1133:30335:230 0/1:-982.6,0,-865.042:1385:600:702:18255:16210 1/1:-2601.6,-388.687,0:1350:7:1313:34990:123 1/1:-2073.73,-297.244,0:1074:10:1037:27965:250 . 0/1:-1324.01,0,-1361.47:1982:904:944:25110:24882 1/1:-2215.09,-326.482,0:1159:8:1117:30337:156 . 0/1:-883.079,0,-857.54:1235:583:574:15822:15700 . 1/1:-2052.6,-286.073,0:1039:17:996:27168:316 0/1:-1207.4,0,-928.982:1531:654:799:21470:18062 0/1:-626.83,0,-521.159:904:397:454:12343:10387 1/1:-3194.8,-460.048,0:1630:16:1588:43644:313 . 1/1:-2043.95,-315.976,0:1120:9:1077:28525:179 . 1/1:-2475.13,-343.953,0:1263:17:1215:33273:362 1/1:-1816.75,-275.196,0:978:12:947:25047:243 1/1:-2242,-317.229,0:1149:14:1111:30408:297 1/1:-2157.01,-313.043,0:1127:14:1077:29016:300 0/1:-1099.4,0,-1062.19:1600:733:758:20713:19707 0/1:-962.136,0,-1159.92:1549:704:742:19072:19700 1/1:-2764.26,-404.54,0:1443:15:1404:37657:347 0/1:-884.652,0,-902.606:1304:614:616:16179:16517 1/1:-3102.92,-438.642,0:1662:30:1597:42276:750 0/1:-1234.48,0,-1031.41:1708:724:868:22951:19334 1/1:-2342.15,-337.463,0:1207:15:1165:32194:272 1/1:-2608.51,-384.679,0:1377:14:1327:36432:309 0/1:-686.157,0,-719.075:1047:483:490:12816:13007 1/1:-3256.32,-474.568,0:1671:12:1609:43697:241 0/1:-901.966,0,-1007.89:1433:678:657:17027:18322 . 0/1:-949.901,0,-793.694:1291:553:671:17858:14703 0/1:-1223.55,0,-1112.33:1705:753:863:22777:20608 . 1/1:-2607.46,-386.502,0:1362:12:1320:35525:226 1/1:-1715.97,-255.116,0:888:5:864:23401:127 . . 1/1:-3522.75,-488.168,0:1782:28:1714:47366:604 1/1:-2794.01,-416.72,0:1474:12:1428:38189:272 0/1:-1148.55,0,-1106.4:1654:756:791:21890:20427 1/1:-3263.56,-477.636,0:1702:22:1644:43936:361 1/1:-1897.73,-283.727,0:1024:10:994:26144:228 0/1:-862.8,0,-746.527:1164:508:583:15804:13555 0/1:-961.225,0,-1009.23:1452:687:687:18264:18271 0/1:-625.324,0,-545.067:915:386:465:12269:10444 0/1:-637.729,0,-679.348:926:429:422:11757:11637 1/1:-2617.17,-387.899,0:1372:11:1338:34890:267 0/1:-662.318,0,-637.706:1044:457:500:13155:12034 0/1:-1303.89,0,-1272.88:1886:869:909:24511:23627 0/1:-1009.7,0,-863.221:1357:589:684:18410:15818 0/1:-687.827,0,-658.274:987:460:458:13005:12226 1/1:-2980.74,-429.162,0:1577:24:1523:41648:484 1/1:-2763.96,-397.274,0:1432:18:1380:37211:354 0/1:-489.826,0,-662.47:901:455:389:10024:12047 0/1:-834.114,0,-848.715:1277:588:586:15875:15657 1/1:-2096.14,-313.925,0:1097:9:1065:28570:139 0/1:-874.485,0,-916.333:1378:639:662:17718:17152 1/1:-2692.9,-394.827,0:1429:21:1381:37100:436 1/1:-3451.59,-481.351,0:1763:26:1692:46332:503 1/1:-3179.01,-449.659,0:1620:19:1573:43085:380 0/1:-583.809,0,-597.411:1012:454:489:12506:12303 1/1:-2423.52,-338.342,0:1180:8:1148:31567:141 0/1:-1062.84,0,-1024.89:1597:702:802:20663:18930 0/1:-1004.79,0,-946.882:1468:674:708:19031:17682 1/1:-3180.61,-465.172,0:1624:11:1576:42659:185 1/1:-1683.5,-250.603,0:882:9:858:22936:184 1/1:-1570.56,-222.102,0:813:13:784:20719:266 0/1:-1016.9,0,-1040.21:1560:716:750:19963:19222 0/1:-1194.21,0,-1058.33:1664:710:850:22512:19668 0/1:-1035.11,0,-1141.95:1673:781:775:21082:20878 . 0/1:-630.042,0,-881.035:1148:575:501:12832:15577 1/1:-2292.78,-346.556,0:1202:8:1171:31622:119 1/1:-1861.18,-253.195,0:996:21:949:25569:508 1/1:-2612.39,-379.007,0:1391:18:1349:35695:427 1/1:-1538.58,-221.911,0:764:3:749:20594:60 0/1:-1013.62,0,-878.616:1394:600:718:19154:16319 0/1:-1373.31,0,-1289.58:1910:870:946:25529:23660 0/1:-819.368,0,-816.189:1230:561:600:15913:15065 0/1:-1291.08,0,-1130.23:1807:786:912:23921:21024 0/1:-1111.09,0,-1045.71:1612:728:793:20944:19456 0/1:-1033.6,0,-1027.36:1617:719:788:20457:19553 . 0/1:-1515.48,0,-1527.17:1519:755:735:22817:22896:755,735 0/1:-1602.74,0,-1330.53:1444:678:749:23702:20278:678,749 0/1:-1856.83,0,-1899.99:1854:934:888:28135:28316:934,888 0/1:-931.274,0,-1004.4:989:508:458:14321:15117:508,458 . 1/1:-4446.47,-481.269,0:1661:8:1638:52124:225:8,1638 0/1:-1444.17,0,-1728.07:1541:831:693:22088:25288:831,693 0/1:-1738.63,0,-1607.37:1669:813:823:26019:24677:813,823 0/1:-1650.42,0,-1623.54:1587:793:770:24709:24294:793,770 0/1:-1605.75,0,-1649.68:1593:806:755:24336:24676:806,755 0/1:-1858.62,0,-1741.99:1763:873:873:27812:26402:873,873 0/1:-1316.43,0,-1173.02:1222:600:604:19512:17821:600,604 1/1:-3745.09,-407.836,0:1402:5:1389:43901:161:5,1389 0/1:-1626.27,0,-1501.16:1524:746:758:24103:22647:746,758 0/1:-2143.37,0,-1886.18:1976:940:1010:31797:28588:940,1010 0/1:-1530.2,0,-1483.6:1515:742:741:23099:22457:742,741 0/1:-1768.43,0,-1863.54:1835:928:863:26915:27865:928,863 0/1:-1296.53,0,-1457.94:1352:705:630:19912:21493:705,630 1/1:-4000.78,-428.336,0:1481:9:1460:46808:205:9,1460 1/1:-4629.57,-477.895,0:1745:20:1718:54636:584:20,1718 chr1 228504507 . G T 7097.67 . AB=0.46875;ABP=16.0391;AC=2;AF=0.5;AN=4;AO=720;CIGAR=1X;DP=2675;DPB=1536;DPRA=0;EPP=7.83579;EPPR=60.8749;GTI=0;LEN=1;MEANALT=3;MQM=29.8806;MQMR=29.8631;NS=1;NUMALT=1;ODDS=1998.25;PAIRED=0.852778;PAIREDR=0.86185;PAO=0;PQA=0;PQR=0;PRO=0;QA=18570;QR=23261;RO=789;RPL=214;RPP=260.161;RPPR=114.201;RPR=506;RUN=1;SAF=378;SAP=6.91895;SAR=342;SF=0;SRF=402;SRP=3.62954;SRR=387;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13383T:p.V4461V,OBSCN:NM_052843:exon51:c.G13383T:p.V4461V,OBSCN:NM_001271223:exon62:c.G16254T:p.V5418V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0203;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0203;1000g2015aug_all=0.00499201;avsnp147=rs114932694;Kaviar_AF=0.0137385;Kaviar_AC=2124;Kaviar_AN=154602;ExAC_ALL=0.0171;ExAC_AFR=0.0037;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0.0340;ExAC_NFE=0.0256;ExAC_OTH=0.0138;ExAC_SAS=0.0021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4113;dpsi_zscore=1.738;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0147;gnomAD_exome_AFR=0.0030;gnomAD_exome_AMR=0.0086;gnomAD_exome_ASJ=0.0169;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0238;gnomAD_exome_NFE=0.0220;gnomAD_exome_OTH=0.0168;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0131;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0206;gnomAD_genome_NFE=0.0176;gnomAD_genome_OTH=0.0174;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-904.087,0,-1190.27:1536:789:720:18570:23261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-574.808,0,-1055:1139:630:496:12740:18495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228504574 . G A 7633.34 . AB=0.422649;ABP=86.9936;AC=1;AF=0.5;AN=2;AO=683;CIGAR=1X;DP=1616;DPB=1616;DPRA=0;EPP=23.8698;EPPR=3.36563;GTI=0;LEN=1;MEANALT=3;MQM=28.9107;MQMR=34.0125;NS=1;NUMALT=1;ODDS=1757.64;PAIRED=0.824305;PAIREDR=0.813636;PAO=0;PQA=0;PQR=0;PRO=0;QA=18623;QR=27616;RO=880;RPL=486;RPP=268.55;RPPR=312.238;RPR=197;RUN=1;SAF=248;SAP=114.188;SAR=435;SF=0;SRF=343;SRP=95.8802;SRR=537;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13450A:p.A4484T,OBSCN:NM_052843:exon51:c.G13450A:p.A4484T,OBSCN:NM_001271223:exon62:c.G16321A:p.A5441T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00519169;avsnp147=rs116557268;Kaviar_AF=0.0016106;Kaviar_AC=249;Kaviar_AN=154602;ExAC_ALL=0.0026;ExAC_AFR=0.0343;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.289;SIFT_pred=T;Polyphen2_HDIV_score=0.725;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.052;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.625;MutationAssessor_pred=N;FATHMM_score=0.07;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_pred=N;VEST3_score=0.088;CADD_raw=1.672;CADD_phred=14.25;DANN_score=0.815;fathmm-MKL_coding_score=0.813;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.012;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=3.46;phyloP7way_vertebrate=-0.032;phyloP20way_mammalian=0.153;phastCons7way_vertebrate=0.087;phastCons20way_mammalian=0.032;SiPhy_29way_logOdds=10.604;GDI_full_10282015=.;dpsi_max_tissue=0.1640;dpsi_zscore=0.649;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0226;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.653e-05;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0058;gnomAD_genome_AFR=0.0205;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-817.676,0,-1621.74:1616:880:683:18623:27616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228504591 . C A 9668.97 . AB=0;ABP=0;AC=49;AF=1;AN=86;AO=1440;CIGAR=1X;DP=60629;DPB=1673;DPRA=0;EPP=15.7737;EPPR=342.293;GTI=0;LEN=1;MEANALT=3;MQM=29.4181;MQMR=24.5943;NS=1;NUMALT=1;ODDS=1179.83;PAIRED=0.822222;PAIREDR=0.853774;PAO=0;PQA=0;PQR=0;PRO=0;QA=37589;QR=3751;RO=212;RPL=1040;RPP=620.674;RPPR=22.8403;RPR=400;RUN=1;SAF=506;SAP=279.246;SAR=934;SF=0,1;SRF=123;SRP=14.851;SRR=89;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13467A:p.H4489Q,OBSCN:NM_052843:exon51:c.C13467A:p.H4489Q,OBSCN:NM_001271223:exon62:c.C16338A:p.H5446Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1639;esp6500siv2_ea=0.1672;esp6500siv2_all=0.1639;esp6500siv2_ea=0.1672;1000g2015aug_all=0.145367;avsnp147=rs61825301;Kaviar_AF=0.142967;Kaviar_AC=22103;Kaviar_AN=154602;ExAC_ALL=0.2444;ExAC_AFR=0.2253;ExAC_AMR=0.4333;ExAC_EAS=0.2410;ExAC_FIN=0.2704;ExAC_NFE=0.2674;ExAC_OTH=0.2484;ExAC_SAS=0.1267;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.855;MutationAssessor_pred=L;FATHMM_score=0.14;FATHMM_pred=T;PROVEAN_score=-3.51;PROVEAN_pred=D;VEST3_score=0.357;CADD_raw=1.476;CADD_phred=13.19;DANN_score=0.670;fathmm-MKL_coding_score=0.134;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.041;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=0.187;phyloP7way_vertebrate=0.005;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.637;phastCons20way_mammalian=0.259;SiPhy_29way_logOdds=9.788;GDI_full_10282015=.;dpsi_max_tissue=0.6030;dpsi_zscore=1.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1888;gnomAD_exome_AFR=0.1658;gnomAD_exome_AMR=0.3112;gnomAD_exome_ASJ=0.2113;gnomAD_exome_EAS=0.1575;gnomAD_exome_FIN=0.1554;gnomAD_exome_NFE=0.1833;gnomAD_exome_OTH=0.1882;gnomAD_exome_SAS=0.1074;gnomAD_genome_ALL=0.1676;gnomAD_genome_AFR=0.1624;gnomAD_genome_AMR=0.2936;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.1363;gnomAD_genome_FIN=0.1618;gnomAD_genome_NFE=0.1681;gnomAD_genome_OTH=0.1653;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2446.42,-239.53,0:1673:212:1440:37589:3751 . . . 1/1:-3122.29,-269.012,0:2161:280:1842:47346:5126 1/1:-1824.3,-142.619,0:1254:168:1063:27930:2990 0/1:-850.25,0,-1373.67:1621:888:719:18178:26181 0/1:-748.251,0,-1279.38:1396:762:620:16071:23046 . 0/1:-552.932,0,-1117.94:1201:686:502:13142:20848 . 0/1:-797.317,0,-1266.28:1432:778:636:16336:23284 . . . . . . . . . 0/1:-462.474,0,-825.201:956:518:425:10653:15360 0/1:-1046.62,0,-1743.44:1959:1075:866:21783:31701 . 0/1:-588.014,0,-1044.45:1150:642:496:12912:19019 . . 0/1:-515.254,0,-932.62:1067:577:469:11668:17182 . . 0/1:-904.668,0,-1452.15:1634:893:721:18985:26885 . . . . . 0/1:-709.705,0,-1149.18:1277:685:578:15306:21022 1/1:-2184.77,-193.557,0:1542:207:1314:33400:3828 . 0/1:-884.648,0,-1645.23:1728:974:733:19326:29589 . . 0/1:-747.23,0,-1160.5:1281:675:592:15584:20571 . . . 0/1:-528.883,0,-862.096:976:528:440:11342:16014 . . . . 0/1:-823.637,0,-1704.04:1665:980:668:17679:29326 . . . . 0/1:-484.777,0,-879.565:970:541:416:10904:16006 . . 0/1:-481.078,0,-989.735:1036:591:431:11162:17711 . . 0/1:-515.805,0,-1006.61:1047:613:424:11009:18286 0/1:-852.73,0,-1525.1:1644:923:703:18372:27955 . . . 1/1:-1827.09,-163.371,0:1233:152:1068:28163:2684 0/1:-726.501,0,-1269.57:1432:774:641:16431:22945 0/1:-717.746,0,-1432.47:1488:854:614:15994:25890 0/1:-1051.29,0,-1662.22:1879:1017:838:21956:30742 0/1:-844.314,0,-1610.86:1721:970:737:18492:29516 0/1:-494.084,0,-828.232:1017:556:446:11908:15995 . . . 0/1:-811.439,0,-1526.23:1657:944:698:17960:28171 0/1:-502.18,0,-866.397:950:541:402:10647:16262 . 0/1:-797.691,0,-1504.12:1580:879:684:17387:26114 0/1:-966.746,0,-1489.54:1697:916:762:19991:26758 0/1:-716.001,0,-1690.82:1667:981:674:17243:29868 . . 0/1:-705.496,0,-1128.35:1307:724:575:14929:21566 0/1:-527.83,0,-1029.2:1098:625:460:11983:18915 . 1/1:-1294.94,-106.443,0:886:117:755:19305:2068 0/1:-710.611,0,-1340.87:1389:773:596:15265:23337 . . . . . . 0/1:-1696.98,0,-1794.33:1694:827:863:25599:26743:827,863 . . 0/1:-885.768,0,-1178.15:1003:533:466:13945:17195:533,466 . . . 0/1:-1581.17,0,-1735.69:1664:812:848:24659:26144:812,848 . 0/1:-1455.83,0,-1999.25:1733:928:801:23491:29514:928,801 . . . . . 0/1:-1466.59,0,-1623.63:1508:753:752:22552:24253:753,752 . 0/1:-1330.09,0,-1451.33:1356:675:676:20423:21579:675,676 . . chr1 228504669 . G A 3102.64 . AB=0;ABP=0;AC=49;AF=1;AN=86;AO=469;CIGAR=1X;DP=18661;DPB=546;DPRA=0;EPP=263.073;EPPR=28.7251;GTI=0;LEN=1;MEANALT=3;MQM=25.6418;MQMR=23.5789;NS=1;NUMALT=1;ODDS=570.65;PAIRED=0.910448;PAIREDR=0.789474;PAO=0;PQA=0;PQR=0;PRO=0;QA=13523;QR=330;RO=19;RPL=410;RPP=573.432;RPPR=22.325;RPR=59;RUN=1;SAF=57;SAP=586.507;SAR=412;SF=0,1;SRF=14;SRP=12.2676;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13545A:p.A4515A,OBSCN:NM_052843:exon51:c.G13545A:p.A4515A,OBSCN:NM_001271223:exon62:c.G16416A:p.A5472A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1418;esp6500siv2_ea=0.1453;esp6500siv2_all=0.1418;esp6500siv2_ea=0.1453;1000g2015aug_all=0.145567;avsnp147=rs61825302;Kaviar_AF=0.0800054;Kaviar_AC=12369;Kaviar_AN=154602;ExAC_ALL=0.1706;ExAC_AFR=0.2069;ExAC_AMR=0.3238;ExAC_EAS=0.1271;ExAC_FIN=0.2;ExAC_NFE=0.2135;ExAC_OTH=0.2097;ExAC_SAS=0.1298;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5118;dpsi_zscore=-1.103;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1921;gnomAD_exome_AFR=0.1774;gnomAD_exome_AMR=0.3076;gnomAD_exome_ASJ=0.2115;gnomAD_exome_EAS=0.1578;gnomAD_exome_FIN=0.1681;gnomAD_exome_NFE=0.1818;gnomAD_exome_OTH=0.1879;gnomAD_exome_SAS=0.1087;gnomAD_genome_ALL=0.1729;gnomAD_genome_AFR=0.1706;gnomAD_genome_AMR=0.2985;gnomAD_genome_ASJ=0.1833;gnomAD_genome_EAS=0.1394;gnomAD_genome_FIN=0.1656;gnomAD_genome_NFE=0.1725;gnomAD_genome_OTH=0.1695;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-855.992,-124.894,0:546:19:469:13523:330 . . . 1/1:-1319.57,-192.847,0:767:12:698:20165:267 1/1:-660.352,-92.1652,0:410:14:363:10040:337 0/1:-429.5,0,-282.831:523:207:292:8550:6369 0/1:-346.354,0,-232.918:421:158:237:6668:5003 . 0/1:-265.406,0,-175.604:361:141:194:5613:4504 . 0/1:-310.43,0,-259.468:409:171:215:6336:5217 . . . . . . . . . 0/1:-223.761,0,-241.472:321:132:169:4784:4270 0/1:-494.285,0,-391.03:660:271:350:10349:8342 . 0/1:-237.958,0,-238.624:355:159:178:5020:5023 . . 0/1:-226.124,0,-228.002:363:154:191:5319:4863 . . 0/1:-344.739,0,-365.602:484:213:241:7048:6948 . . . . . 0/1:-216.389,0,-186.146:284:124:151:4465:3922 1/1:-880.743,-123.691,0:516:13:466:13665:283 . 0/1:-304.197,0,-332.714:474:220:231:6650:7060 . . 0/1:-218.639,0,-250.457:331:148:157:4561:4705 . . . 0/1:-223.598,0,-223.663:318:142:164:4786:4478 . . . . 0/1:-282.576,0,-433.83:492:240:218:6152:7684 . . . . 0/1:-215.912,0,-202.487:301:125:166:4620:3871 . . 0/1:-192.97,0,-247.164:304:148:137:4005:4654 . . 0/1:-212.048,0,-280.074:321:156:155:4439:5076 0/1:-291.971,0,-342.572:476:220:231:6405:6920 . . . 1/1:-691.98,-97.9946,0:406:9:367:10453:184 0/1:-335.973,0,-319.882:423:181:212:6385:5767 0/1:-278.131,0,-319.159:463:210:230:6304:6589 0/1:-377.847,0,-416.54:568:253:280:7977:8129 0/1:-372.249,0,-356.021:542:250:260:7414:7720 0/1:-191.414,0,-181.406:286:123:149:4401:3748 . . . 0/1:-364.448,0,-337.636:528:234:266:7260:7422 0/1:-189.217,0,-226.222:306:144:141:3861:4608 . 0/1:-333.567,0,-395.035:511:226:256:7387:7122 0/1:-323.638,0,-428.387:544:249:257:7061:7822 0/1:-332.482,0,-456.231:554:263:266:7462:8360 . . 0/1:-238.191,0,-291.227:410:193:192:5329:5897 0/1:-181.652,0,-206.666:307:147:147:4294:4715 . 1/1:-518.972,-73.5668,0:290:5:258:7479:70 0/1:-258.614,0,-383.679:402:203:190:5541:6589 . . . . . . 0/1:-627.941,0,-477.883:537:222:309:9188:7316:222,309 . . 0/1:-324.913,0,-292.596:302:136:162:4934:4462:136,162 . . . 0/1:-552.132,0,-403.319:483:197:273:8416:6317:197,273 . 0/1:-501.336,0,-511.198:500:242:255:7765:7709:242,255 . . . . . 0/1:-448.711,0,-413.222:439:193:235:7052:6354:193,235 . 0/1:-454.653,0,-409.062:423:188:224:6950:6204:188,224 . . chr1 228504670 . C T 2653.85 . AB=0.475177;ABP=4.51955;AC=91;AF=0.5;AN=140;AO=134;CIGAR=1X;DP=28092;DPB=282;DPRA=0;EPP=50.2641;EPPR=46.8287;GTI=0;LEN=1;MEANALT=3;MQM=27.291;MQMR=33.8209;NS=1;NUMALT=1;ODDS=255.634;PAIRED=0.850746;PAIREDR=0.88806;PAO=0;PQA=0;PQR=0;PRO=0;QA=3436;QR=4244;RO=134;RPL=123;RPP=206.286;RPPR=165.06;RPR=11;RUN=1;SAF=29;SAP=96.6105;SAR=105;SF=0,1;SRF=24;SRP=122.863;SRR=110;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13546T:p.R4516W,OBSCN:NM_052843:exon51:c.C13546T:p.R4516W,OBSCN:NM_001271223:exon62:c.C16417T:p.R5473W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3755;esp6500siv2_ea=0.4398;esp6500siv2_all=0.3755;esp6500siv2_ea=0.4398;1000g2015aug_all=0.330272;avsnp147=rs11810627;Kaviar_AF=0.207882;Kaviar_AC=32139;Kaviar_AN=154602;ExAC_ALL=0.4230;ExAC_AFR=0.3255;ExAC_AMR=0.3583;ExAC_EAS=0.2462;ExAC_FIN=0.6111;ExAC_NFE=0.5071;ExAC_OTH=0.4385;ExAC_SAS=0.3816;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.071;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.3;MutationAssessor_pred=L;FATHMM_score=0.2;FATHMM_pred=T;PROVEAN_score=-2.21;PROVEAN_pred=N;VEST3_score=0.389;CADD_raw=3.693;CADD_phred=23.3;DANN_score=0.809;fathmm-MKL_coding_score=0.587;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.946;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-0.971;phyloP7way_vertebrate=-0.061;phyloP20way_mammalian=0.035;phastCons7way_vertebrate=0.020;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=10.362;GDI_full_10282015=.;dpsi_max_tissue=-0.1379;dpsi_zscore=-0.552;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4098;gnomAD_exome_AFR=0.2869;gnomAD_exome_AMR=0.3675;gnomAD_exome_ASJ=0.4187;gnomAD_exome_EAS=0.2045;gnomAD_exome_FIN=0.5620;gnomAD_exome_NFE=0.4992;gnomAD_exome_OTH=0.4257;gnomAD_exome_SAS=0.3347;gnomAD_genome_ALL=0.4424;gnomAD_genome_AFR=0.2941;gnomAD_genome_AMR=0.3768;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.2075;gnomAD_genome_FIN=0.5672;gnomAD_genome_NFE=0.5236;gnomAD_genome_OTH=0.4876;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-155.364,0,-243.801:282:134:134:3436:4244 . 1/1:-577.696,-92.3189,0:376:6:321:7993:106 0/1:-113.661,0,-270.639:264:149:95:2534:4842 0/1:-200.305,0,-344.046:404:206:172:4315:6343 . . 0/1:-162.88,0,-491.449:519:318:173:4323:9771 0/1:-154.083,0,-418.962:417:259:142:3695:7994 1/1:-628.955,-87.5494,0:435:18:369:8946:431 0/1:-102.31,0,-313.737:353:208:117:2964:6501 0/1:-198.661,0,-382.404:421:218:177:4273:6790 0/1:-154.437,0,-363.667:403:239:145:3565:7246 1/1:-538.013,-81.0883,0:396:17:334:7984:387 . . 1/1:-444.814,-75.2934,0:302:3:262:6280:55 . 0/1:-230.502,0,-310.545:373:177:176:4545:5516 . 1/1:-426.215,-61.0998,0:275:11:232:5880:240 0/1:-233.298,0,-315.067:398:187:181:4597:5878 . . . 0/1:-139.667,0,-300.242:352:197:128:3277:6080 . 1/1:-448.289,-62.7443,0:285:11:251:6433:252 . 1/1:-487.609,-77.9935,0:346:11:295:7213:211 1/1:-456.801,-65.144,0:302:8:256:6574:218 . . 1/1:-640.186,-98.6071,0:427:9:367:9082:183 0/1:-155.525,0,-254.043:309:149:136:3380:4611 1/1:-652.813,-105.301,0:460:8:384:9186:156 0/1:-304.984,0,-463.724:545:258:247:6260:8108 0/1:-118.887,0,-258.534:279:163:104:2681:5162 . 0/1:-146.849,0,-291.402:326:161:134:3128:5094 0/1:-223.669,0,-370.164:471:253:185:4895:7882 . . . 0/1:-250.95,0,-417.806:465:233:212:5241:7362 . 1/1:-513.977,-77.8481,0:355:6:296:7439:160 . . . 0/1:-244.083,0,-390.634:481:252:202:5204:7784 0/1:-196.598,0,-290.311:385:188:176:4261:5849 . 1/1:-867.264,-129.157,0:571:16:484:12094:304 1/1:-438.885,-64.4132,0:312:8:259:6505:205 . . . 0/1:-124.014,0,-263.324:250:139:101:2745:4432 1/1:-562.189,-76.2878,0:405:17:339:8267:425 . 0/1:-250.419,0,-496.542:541:272:224:5506:8487 0/1:-187.068,0,-310.414:363:179:154:3893:5587 . 0/1:-199.718,0,-370.986:461:253:177:4452:7764 1/1:-630.132,-99.5174,0:412:8:361:9073:147 0/1:-137.112,0,-187.457:223:110:99:2803:3404 0/1:-142.424,0,-312.483:320:173:125:3108:5507 . . 0/1:-187.545,0,-352.625:454:253:175:4360:7707 . 0/1:-205.956,0,-459.435:531:293:206:5014:8902 . 0/1:-173.992,0,-184.207:259:117:126:3300:3721 0/1:-199.463,0,-440.407:464:254:178:4639:7854 0/1:-176.572,0,-371.053:415:215:170:4054:6668 0/1:-211.619,0,-431.282:523:284:209:5008:8719 0/1:-123.251,0,-252.681:303:161:118:2813:4981 1/1:-279.744,-33.2211,0:206:17:169:4228:431 . . . . 0/1:-200.198,0,-287.048:346:161:165:4189:5046 0/1:-169.655,0,-311.552:403:214:149:3825:6486 0/1:-132.268,0,-221.822:304:161:119:3027:4990 1/1:-668.773,-98.2217,0:463:15:391:9472:359 . . 0/1:-280.068,0,-527.148:566:288:249:6279:9086 0/1:-206.847,0,-340.925:399:193:179:4390:6138 0/1:-224.513,0,-525.683:510:283:199:5041:8807 0/1:-260.71,0,-323.974:441:192:209:5163:5952 0/1:-281.888,0,-402.484:512:225:243:5950:7017 . . 0/1:-322.05,0,-460.662:423:212:193:5217:6764:212,193 0/1:-258.55,0,-484.002:385:211:158:4237:6893:211,158 . . 1/1:-1029.73,-125.318,0:504:5:453:12170:154:5,453 0/1:-299.306,0,-488.19:422:221:186:5100:7079:221,186 . 0/1:-406.578,0,-438.835:456:204:228:6367:6635:204,228 . 0/1:-335.707,0,-530.165:446:234:197:5556:7606:234,197 0/1:-332.791,0,-364.986:387:172:194:5217:5466:172,194 1/1:-908.683,-113.152,0:442:5:406:10819:132:5,406 0/1:-398.826,0,-461.336:442:211:217:6191:6763:211,217 0/1:-403.843,0,-530.408:494:239:235:6532:7799:239,235 . 0/1:-276.509,0,-547.863:436:242:176:4721:7749:242,176 . 1/1:-852.011,-103.215,0:416:6:374:10259:160:6,374 1/1:-1008.28,-115.031,0:476:8:438:12095:229:8,438 chr1 228504701 . GCT GCTCCCT 1230.77 . AB=0.393701;ABP=15.4749;AC=151;AF=0.5;AN=206;AO=50;CIGAR=1M4I1M;DP=20961;DPB=239;DPRA=0;EPP=47.4821;EPPR=41.5618;GTI=0;LEN=4;MEANALT=8;MQM=24.16;MQMR=34.4348;NS=1;NUMALT=1;ODDS=39.6925;PAIRED=0.98;PAIREDR=1;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=1289;QR=2225;RO=69;RPL=41;RPP=47.4821;RPPR=112.56;RPR=9;RUN=1;SAF=0;SAP=111.584;SAR=50;SF=0,1;SRF=12;SRP=66.7383;SRR=57;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-136.475:127:69:50:1289:2225 1/1:.,.,0:257:23:191:4728:530 1/1:.,.,0:177:19:132:3238:438 0/1:.,.,-149.842:118:71:39:904:2269 0/1:.,.,-180.002:194:93:77:2023:2968 1/1:.,.,0:361:33:284:6923:802 1/1:.,.,0:179:16:131:3047:376 1/1:.,.,0:247:23:191:4779:560 1/1:.,.,0:208:15:162:3911:355 1/1:.,.,0:223:23:164:4016:573 1/1:.,.,0:182:18:136:3322:440 0/1:.,.,-193.734:204:104:79:1933:3216 1/1:.,.,0:173:12:128:3269:322 1/1:.,.,0:203:26:147:3826:585 . 0/1:.,.,-227.141:252:130:101:2562:4021 1/1:.,.,0:136:13:100:2625:287 . 0/1:.,.,-136.842:175:75:90:2290:2322 . 1/1:.,.,0:121:8:97:2322:169 0/1:.,.,-146.661:166:75:71:1824:2402 0/1:.,.,-120.581:156:66:69:1738:2005 1/1:.,.,0:317:26:245:6080:587 . 1/1:.,.,0:189:15:149:3612:437 . 1/1:.,.,0:131:11:102:2584:280 1/1:.,.,0:189:14:147:3727:318 1/1:.,.,0:197:17:139:3467:402 1/1:.,.,0:147:21:108:2662:530 0/1:.,.,-191.147:208:104:88:2044:3189 0/1:.,.,-233.147:232:124:82:1919:3868 1/1:.,.,0:242:23:186:5056:511 0/1:.,.,-128.174:159:72:64:1673:2210 1/1:.,.,0:263:17:200:4946:431 0/1:.,.,-219.952:288:131:132:3495:3979 1/1:.,.,0:112:15:84:2238:303 1/1:.,.,0:216:19:163:3970:445 0/1:.,.,-156.222:170:82:67:1547:2498 1/1:.,.,0:205:20:152:3677:483 0/1:.,.,-201.632:186:112:57:1319:3315 . 0/1:.,.,-160.863:179:85:75:1888:2720 0/1:.,.,-209.553:227:114:90:2328:3517 . 1/1:.,.,0:198:29:132:3351:735 1/1:.,.,0:161:12:121:2850:275 . . 1/1:.,.,0:229:18:166:4156:363 1/1:.,.,0:187:13:142:3531:322 0/1:.,.,-208.308:227:117:87:2189:3605 1/1:.,.,0:307:28:230:5600:687 1/1:.,.,0:157:13:129:3316:275 0/1:.,.,-156.155:179:88:73:1762:2742 0/1:.,.,-212.948:215:113:84:2146:3580 0/1:.,.,-116.032:146:67:64:1639:1993 . 1/1:.,.,0:214:27:160:4011:673 0/1:.,.,-112.043:126:68:51:1220:2052 0/1:.,.,-286.08:299:154:115:2771:4803 0/1:.,.,-169.295:202:94:90:2210:2959 0/1:.,.,-116.771:140:66:66:1644:2086 1/1:.,.,0:237:19:181:4704:479 1/1:.,.,0:218:17:171:4242:398 0/1:.,.,-77.5077:88:42:36:908:1282 0/1:.,.,-125.793:145:72:63:1564:2212 1/1:.,.,0:193:17:147:3425:429 0/1:.,.,-135.254:182:78:82:2156:2408 1/1:.,.,0:224:20:170:3981:521 1/1:.,.,0:262:16:208:5106:348 1/1:.,.,0:266:22:205:5252:535 0/1:.,.,-95.2557:131:57:52:1303:1720 1/1:.,.,0:129:15:93:2447:364 0/1:.,.,-206.144:215:115:78:1926:3582 0/1:.,.,-142.693:202:87:96:2456:2680 1/1:.,.,0:249:24:196:4623:581 1/1:.,.,0:151:13:112:2955:313 1/1:.,.,0:108:14:75:1811:281 0/1:.,.,-189.516:222:107:92:2130:3326 0/1:.,.,-238.435:301:143:134:3124:4435 0/1:.,.,-253.456:267:139:100:2532:4390 . 0/1:.,.,-136.331:162:76:68:1858:2275 1/1:.,.,0:209:13:159:4134:293 1/1:.,.,0:119:11:89:2331:264 1/1:.,.,0:253:24:201:5029:513 1/1:.,.,0:148:15:112:2847:338 0/1:.,.,-189.868:183:96:61:1514:3055 0/1:.,.,-248.759:253:133:88:2245:4070 0/1:.,.,-179.085:209:101:82:2069:3064 0/1:.,.,-256.891:244:133:89:2317:4182 0/1:.,.,-194.814:230:111:100:2439:3521 0/1:.,.,-215.34:286:125:127:3142:3757 . 0/1:-195.154,0,-208.68:232:99:123:3001:3131:99,123 0/1:-151.286,0,-198.035:199:92:94:2364:2945:92,94 0/1:-112.705,0,-235.984:201:107:77:1917:3390:107,77 0/1:-110.423,0,-145.275:152:66:72:1741:2160:66,72 . 1/1:-520.638,-71.3091,0:269:2:244:6013:58:2,244 0/1:-148.266,0,-219.623:216:102:102:2418:3243:102,102 0/1:-176.938,0,-215.695:248:105:124:2839:3299:105,124 0/1:-149.874,0,-226.25:221:105:100:2426:3370:105,100 0/1:-140.607,0,-209.765:205:97:88:2245:3071:97,88 0/1:-143.19,0,-291.342:243:129:101:2427:4164:129,101 0/1:-154.042,0,-163.57:188:79:98:2380:2487:79,98 1/1:-481.804,-65.3991,0:242:1:219:5466:28:1,219 0/1:-161.78,0,-235.044:216:108:103:2567:3397:108,103 0/1:-192.239,0,-205.955:234:97:118:2955:3108:97,118 0/1:-169.711,0,-209.02:227:99:109:2667:3147:99,109 0/1:-142.435,0,-254.214:220:114:90:2323:3615:114,90 0/1:-106.353,0,-238.546:199:106:78:1882:3363:106,78 1/1:-398.997,-49.0027,0:228:7:193:4684:198:7,193 1/1:-458.974,-59.0225,0:232:4:212:5391:115:4,212 chr1 228505204 . GCA ACA 523.05 . AB=0;ABP=0;AC=60;AF=1;AN=100;AO=107;CIGAR=1X;DP=4972;DPB=111;DPRA=0;EPP=226.753;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=31.8785;MQMR=8;NS=1;NUMALT=1;ODDS=148.125;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3246;QR=41;RO=2;RPL=1;RPP=226.753;RPPR=7.35324;RPR=106;RUN=1;SAF=107;SAP=235.358;SAR=0;SF=0,1;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.G13601A:p.R4534H,OBSCN:NM_052843:exon52:c.G13601A:p.R4534H,OBSCN:NM_001271223:exon63:c.G16472A:p.R5491H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2542;esp6500siv2_ea=0.1944;esp6500siv2_all=0.2542;esp6500siv2_ea=0.1944;1000g2015aug_all=0.315296;avsnp147=rs4653942;Kaviar_AF=0.242164;Kaviar_AC=37439;Kaviar_AN=154602;ExAC_ALL=0.2619;ExAC_AFR=0.4080;ExAC_AMR=0.4013;ExAC_EAS=0.5245;ExAC_FIN=0.2177;ExAC_NFE=0.2095;ExAC_OTH=0.2345;ExAC_SAS=0.1698;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.072;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.706;Polyphen2_HVAR_pred=P;LRT_score=0.229;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.875;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=-1.68;PROVEAN_pred=N;VEST3_score=0.176;CADD_raw=3.357;CADD_phred=22.9;DANN_score=0.953;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.932;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=2.36;phyloP7way_vertebrate=-0.234;phyloP20way_mammalian=0.026;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=2.871;GDI_full_10282015=.;dpsi_max_tissue=0.0588;dpsi_zscore=0.337;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2617;gnomAD_exome_AFR=0.4037;gnomAD_exome_AMR=0.3860;gnomAD_exome_ASJ=0.2306;gnomAD_exome_EAS=0.5265;gnomAD_exome_FIN=0.2116;gnomAD_exome_NFE=0.2031;gnomAD_exome_OTH=0.2402;gnomAD_exome_SAS=0.1670;gnomAD_genome_ALL=0.2724;gnomAD_genome_AFR=0.3891;gnomAD_genome_AMR=0.3708;gnomAD_genome_ASJ=0.2267;gnomAD_genome_EAS=0.4981;gnomAD_genome_FIN=0.2175;gnomAD_genome_NFE=0.1924;gnomAD_genome_OTH=0.2112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:.,.,0:111:2:107:3246:41 . . . 1/1:.,.,0:111:1:107:3387:36 1/1:.,.,0:77:4:72:2225:140 0/1:.,.,-107.789:118:63:54:1602:2022 0/1:.,.,-108.508:101:58:43:1384:1925 . 0/1:.,.,-113.015:99:55:41:1187:1825 . 0/1:.,.,-111.466:100:57:41:1175:1920 . . 0/1:.,.,-107.488:135:65:69:2025:2127 . . . . . . 0/1:.,.,-27.1487:34:18:16:527:578 1/1:.,.,0:112:5:107:3172:172 . 0/1:.,.,-55.6866:94:38:51:1588:1204 . . 1/1:.,.,0:82:1:80:2314:36 . . 0/1:.,.,-71.7635:83:46:36:1138:1485 0/1:.,.,-70.571:81:40:38:1105:1217 . . . . 0/1:.,.,-55.654:61:28:33:940:944 1/1:.,.,0:110:4:100:3039:96 . 0/1:.,.,-87.1942:89:44:44:1272:1456 0/1:.,.,-112.483:108:58:49:1279:1891 . 0/1:.,.,-57.9612:96:40:56:1771:1296 . . . 1/1:.,.,0:60:0:60:1729:0 . . 0/1:.,.,-115.162:127:63:61:1632:2032 . 0/1:.,.,-80.5665:84:40:44:1350:1384 . . 0/1:.,.,-80.5183:79:41:34:987:1405 0/1:.,.,-100.476:114:59:52:1525:1889 0/1:.,.,-56.6101:67:34:31:946:1052 . . 0/1:.,.,-43.873:65:28:36:1081:902 . . 0/1:.,.,-65.5013:64:35:29:935:1188 0/1:.,.,-87.5025:105:52:50:1459:1670 . . . 1/1:.,.,0:118:7:108:3245:187 0/1:.,.,-91.8068:107:53:53:1560:1707 0/1:.,.,-91.6115:124:59:64:1860:1895 1/1:.,.,0:134:1:130:3958:14 0/1:.,.,-139.503:130:74:55:1748:2453 0/1:.,.,-29.9185:63:25:37:1024:810 0/1:.,.,-107.185:86:53:33:990:1774 . . 0/1:.,.,-74.8895:91:40:50:1439:1306 0/1:.,.,-94.1992:80:49:29:888:1615 . 0/1:.,.,-94.5357:115:55:59:1796:1787 0/1:.,.,-100.74:135:57:78:2395:1939 0/1:.,.,-125.986:145:74:69:2071:2317 . . 0/1:.,.,-111.547:103:59:41:1219:1920 0/1:.,.,-65.7001:70:37:33:1023:1165 . 1/1:.,.,0:65:2:63:1932:50 0/1:.,.,-62.2631:73:35:38:1093:1162 . . . . . . 0/1:.,.,-162.184:162:79:77:2250:2578:79,77 . . 0/1:.,.,-106.985:134:62:69:2130:1851:62,69 . . . 0/1:.,.,-123.252:125:61:58:1748:1852:61,58 . 0/1:.,.,-151.184:133:72:57:1809:2306:72,57 . . . . . 0/1:.,.,-122.764:116:56:57:1747:1836:56,57 . 0/1:-64.1656,0,-115.822:96:52:34:1029:1654:52,34 . . chr1 228505235 . A G 2200.61 . AB=0.540717;ABP=7.43105;AC=1;AF=0.5;AN=2;AO=166;CIGAR=1X;DP=307;DPB=307;DPRA=0;EPP=90.968;EPPR=65.0524;GTI=0;LEN=1;MEANALT=3;MQM=30.988;MQMR=31.0159;NS=1;NUMALT=1;ODDS=293.394;PAIRED=0.89759;PAIREDR=0.849206;PAO=0;PQA=0;PQR=0;PRO=0;QA=5089;QR=3623;RO=126;RPL=11;RPP=274.261;RPPR=211.541;RPR=155;RUN=1;SAF=135;SAP=144.496;SAR=31;SF=0;SRF=101;SRP=102.553;SRR=25;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.A13632G:p.A4544A,OBSCN:NM_052843:exon52:c.A13632G:p.A4544A,OBSCN:NM_001271223:exon63:c.A16503G:p.A5501A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs370547153;Kaviar_AF=0.0006015;Kaviar_AC=93;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0001;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0023;ExAC_SAS=0.0035;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0168;dpsi_zscore=0.115;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=6.563e-05;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-284.583,0,-177.047:307:126:166:5089:3623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228505257 . G A 3495.82 . AB=0.447592;ABP=19.8531;AC=1;AF=0.5;AN=2;AO=316;CIGAR=1X;DP=706;DPB=706;DPRA=0;EPP=66.3403;EPPR=34.2795;GTI=0;LEN=1;MEANALT=3;MQM=29.8734;MQMR=31.3306;NS=1;NUMALT=1;ODDS=804.943;PAIRED=0.832278;PAIREDR=0.863889;PAO=0;PQA=0;PQR=0;PRO=0;QA=8923;QR=11041;RO=360;RPL=34;RPP=425.65;RPPR=404.516;RPR=282;RUN=1;SAF=240;SAP=187.833;SAR=76;SF=0;SRF=267;SRP=185.631;SRR=93;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.G13654A:p.G4552S,OBSCN:NM_052843:exon52:c.G13654A:p.G4552S,OBSCN:NM_001271223:exon63:c.G16525A:p.G5509S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000399361;avsnp147=rs201223554;Kaviar_AF=0.0006145;Kaviar_AC=95;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0001;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0046;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.516;SIFT_pred=T;Polyphen2_HDIV_score=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.65;MutationAssessor_pred=N;FATHMM_score=0.27;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_pred=N;VEST3_score=0.306;CADD_raw=3.689;CADD_phred=23.3;DANN_score=0.988;fathmm-MKL_coding_score=0.215;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.965;MetaSVM_pred=T;MetaLR_score=0.042;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.42;phyloP7way_vertebrate=0.913;phyloP20way_mammalian=0.900;phastCons7way_vertebrate=0.024;phastCons20way_mammalian=0.665;SiPhy_29way_logOdds=3.038;GDI_full_10282015=.;dpsi_max_tissue=-0.0164;dpsi_zscore=-0.081;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.575e-05;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0046;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-431.582,0,-599.541:706:360:316:8923:11041 . . . . . . . . . . . . . . . . . . . . . chr1 228505326 . C A 16014.60 . AB=0.511728;ABP=4.94586;AC=1;AF=0.5;AN=2;AO=829;CIGAR=1X;DP=1620;DPB=1620;DPRA=0;EPP=176.018;EPPR=218.335;GTI=0;LEN=1;MEANALT=3;MQM=38.62;MQMR=39.1783;NS=1;NUMALT=1;ODDS=3614.97;PAIRED=0.887817;PAIREDR=0.889172;PAO=0;PQA=0;PQR=0;PRO=0;QA=25326;QR=24759;RO=785;RPL=335;RPP=69.231;RPPR=51.9417;RPR=494;RUN=1;SAF=443;SAP=11.5207;SAR=386;SF=1;SRF=435;SRP=22.9961;SRR=350;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.C13723A:p.L4575M,OBSCN:NM_052843:exon52:c.C13723A:p.L4575M,OBSCN:NM_001271223:exon63:c.C16594A:p.L5532M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.039;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.972;Polyphen2_HVAR_pred=D;LRT_score=0.017;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=2.675;MutationAssessor_pred=M;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-0.79;PROVEAN_pred=N;VEST3_score=0.287;CADD_raw=4.051;CADD_phred=23.7;DANN_score=0.989;fathmm-MKL_coding_score=0.266;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.846;MetaSVM_pred=T;MetaLR_score=0.259;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=1.49;phyloP7way_vertebrate=-0.384;phyloP20way_mammalian=-0.017;phastCons7way_vertebrate=0.796;phastCons20way_mammalian=0.541;SiPhy_29way_logOdds=1.367;GDI_full_10282015=.;dpsi_max_tissue=-0.0177;dpsi_zscore=-0.089;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.085e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.251e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1635.17,0,-1607.45:1620:785:829:25326:24759:785,829 . . . . . . . . . . . . . . . . . . . chr1 228505431 . C T 4444.59 . AB=0.452471;ABP=18.4913;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X;DP=789;DPB=789;DPRA=0;EPP=4.03825;EPPR=29.1584;GTI=0;LEN=1;MEANALT=3;MQM=29.1289;MQMR=30.4401;NS=1;NUMALT=1;ODDS=1023.4;PAIRED=0.829132;PAIREDR=0.809896;PAO=0;PQA=0;PQR=0;PRO=0;QA=9740;QR=11595;RO=384;RPL=251;RPP=130.896;RPPR=229.205;RPR=106;RUN=1;SAF=142;SAP=35.4242;SAR=215;SF=0;SRF=122;SRP=113.846;SRR=262;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.C13828T:p.L4610L,OBSCN:NM_052843:exon52:c.C13828T:p.L4610L,OBSCN:NM_001271223:exon63:c.C16699T:p.L5567L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0075;esp6500siv2_ea=.;esp6500siv2_all=0.0075;esp6500siv2_ea=.;1000g2015aug_all=0.00738818;avsnp147=rs116642293;Kaviar_AF=0.0021345;Kaviar_AC=330;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0276;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.817e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0403;dpsi_zscore=-0.219;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0261;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.511e-05;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0272;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.674e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-468.814,0,-600.966:789:384:357:9740:11595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228505667 . TC TG 36482.40 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1411;CIGAR=1M1X;DP=1479;DPB=1485;DPRA=0;EPP=39.9838;EPPR=4.09604;GTI=0;LEN=1;MEANALT=6;MQM=38.7987;MQMR=33.125;NS=1;NUMALT=1;ODDS=1901.62;PAIRED=0.968108;PAIREDR=0.875;PAO=12;PQA=352;PQR=0;PRO=0;QA=43028;QR=183;RO=8;RPL=682;RPP=6.40986;RPPR=4.09604;RPR=729;RUN=1;SAF=856;SAP=142.442;SAR=555;SF=1;SRF=4;SRP=3.0103;SRR=4;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon53:c.13925delC:p.S4642fs,OBSCN:NM_052843:exon53:c.13925delC:p.S4642fs,OBSCN:NM_001271223:exon64:c.16796delC:p.S5599fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3669.46,-415.42,0:1479:8:1411:43028:183:8,1411 . . . . . . . chr1 228505668 . C G 17104.96 . AB=0.496435;ABP=3.13416;AC=150;AF=0.5;AN=206;AO=557;CIGAR=1X;DP=139042;DPB=1122;DPRA=0;EPP=19.4815;EPPR=6.10564;GTI=0;LEN=1;MEANALT=3;MQM=29.0628;MQMR=33.8964;NS=1;NUMALT=1;ODDS=1612.93;PAIRED=0.929982;PAIREDR=0.934545;PAO=0;PQA=0;PQR=0;PRO=0;QA=14637;QR=16104;RO=550;RPL=272;RPP=3.66915;RPPR=4.58955;RPR=285;RUN=1;SAF=364;SAP=117.007;SAR=193;SF=0,1;SRF=320;SRP=34.9902;SRR=230;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13925G:p.S4642C,OBSCN:NM_052843:exon53:c.C13925G:p.S4642C,OBSCN:NM_001271223:exon64:c.C16796G:p.S5599C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7453;esp6500siv2_ea=0.7016;esp6500siv2_all=0.7453;esp6500siv2_ea=0.7016;1000g2015aug_all=0.699281;avsnp147=rs1188729;Kaviar_AF=0.684881;Kaviar_AC=105884;Kaviar_AN=154602;ExAC_ALL=0.6940;ExAC_AFR=0.8253;ExAC_AMR=0.7480;ExAC_EAS=0.7293;ExAC_FIN=0.7731;ExAC_NFE=0.7027;ExAC_OTH=0.6478;ExAC_SAS=0.4959;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.205;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.165;MutationAssessor_pred=N;FATHMM_score=-1.09;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_pred=N;VEST3_score=0.11;CADD_raw=0.755;CADD_phred=9.181;DANN_score=0.322;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.986;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.58;phyloP7way_vertebrate=0.009;phyloP20way_mammalian=0.037;phastCons7way_vertebrate=0.140;phastCons20way_mammalian=0.115;SiPhy_29way_logOdds=7.934;GDI_full_10282015=.;dpsi_max_tissue=1.9292;dpsi_zscore=1.946;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6949;gnomAD_exome_AFR=0.8246;gnomAD_exome_AMR=0.7513;gnomAD_exome_ASJ=0.6385;gnomAD_exome_EAS=0.7291;gnomAD_exome_FIN=0.7709;gnomAD_exome_NFE=0.6997;gnomAD_exome_OTH=0.6847;gnomAD_exome_SAS=0.4972;gnomAD_genome_ALL=0.7523;gnomAD_genome_AFR=0.8230;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7042;gnomAD_genome_FIN=0.7813;gnomAD_genome_NFE=0.7146;gnomAD_genome_OTH=0.7055;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-721.111,0,-912.569:1122:550:557:14637:16104 1/1:-2906.68,-422.273,0:1527:22:1488:40759:480 1/1:-2343.73,-318.245,0:1213:23:1174:31939:512 0/1:-596.343,0,-700.238:869:429:433:11602:12144 0/1:-867.389,0,-1102.77:1358:697:635:17373:19570 1/1:-3124.83,-448.578,0:1668:27:1625:44124:636 1/1:-2052.23,-291.404,0:1101:27:1064:29150:543 1/1:-2666.8,-362.072,0:1423:32:1375:37542:825 1/1:-2358.76,-321.295,0:1207:22:1173:32141:487 1/1:-2889.64,-413.073,0:1501:22:1463:39774:463 1/1:-2229.18,-312.812,0:1203:28:1164:31760:598 0/1:-968.251,0,-1027.77:1307:621:676:17899:17882 1/1:-2363.96,-345.281,0:1235:14:1206:32635:280 1/1:-1851.55,-275.899,0:1030:25:999:26519:499 . 0/1:-1214.14,0,-1496.49:1890:949:919:24500:26860 1/1:-1814.8,-255.397,0:963:19:934:25502:412 . 0/1:-782.908,0,-1146.2:1282:679:584:15440:19632 . 1/1:-1886.65,-268.972,0:954:14:937:25521:303 0/1:-978.345,0,-1286.72:1482:765:704:18680:22115 0/1:-464.911,0,-713.219:836:451:371:10147:12981 1/1:-3065.83,-446.897,0:1613:18:1568:42385:391 . 1/1:-1965.51,-295.333,0:1054:17:1031:27720:349 . 1/1:-2290.97,-334.216,0:1180:14:1157:30817:280 1/1:-1823.7,-285.263,0:985:7:967:26004:138 1/1:-1906.57,-265.952,0:969:13:946:25555:284 1/1:-2247.53,-320.92,0:1140:16:1118:30879:292 0/1:-1075.39,0,-1488.06:1685:873:802:22015:25307 0/1:-1009.81,0,-1284.61:1541:792:733:19913:22533 1/1:-2641.17,-389.907,0:1447:26:1401:36895:517 0/1:-915.808,0,-1021.03:1263:618:624:17299:17932 1/1:-3098.97,-447.353,0:1583:21:1545:42087:323 0/1:-1164.7,0,-1508.74:1851:966:858:23056:27311 1/1:-2172.51,-312.476,0:1104:12:1081:29544:262 1/1:-2347.56,-354.107,0:1254:17:1224:33297:309 0/1:-596.165,0,-815.228:954:499:443:11815:14224 1/1:-3217.29,-456.784,0:1615:17:1578:43925:313 0/1:-826.287,0,-1036.37:1272:648:610:16487:18376 . 0/1:-775.106,0,-987.11:1153:571:570:15479:16738 0/1:-1018.96,0,-1196.45:1473:733:729:20053:21148 . 1/1:-2623.83,-388.704,0:1344:14:1317:36270:214 1/1:-1454.97,-208.687,0:738:8:724:19878:134 . . 1/1:-3247.46,-453.449,0:1663:28:1622:44026:590 1/1:-2336.26,-346.306,0:1269:23:1233:33134:488 0/1:-1041.64,0,-1470.55:1590:842:736:20619:24927 1/1:-3191.81,-467.877,0:1644:14:1615:43451:272 1/1:-1803.83,-268.595,0:1016:25:983:26162:510 0/1:-720.917,0,-1000.88:1103:572:522:14372:16631 0/1:-1029.4,0,-1304.14:1599:810:774:20726:22933 0/1:-543.176,0,-685.933:876:443:426:11102:12730 0/1:-635.666,0,-773.312:982:509:462:12252:14043 1/1:-3166.15,-441.404,0:1633:32:1589:43229:616 0/1:-486.584,0,-764.066:895:486:402:10907:13613 0/1:-1189.45,0,-1363.68:1746:857:871:23328:24691 0/1:-865.383,0,-1077.84:1240:625:600:16069:18445 0/1:-529.401,0,-773.569:931:485:441:11739:13764 1/1:-2866.88,-420.435,0:1503:21:1472:39867:434 1/1:-2751.33,-384.143,0:1426:28:1389:37637:580 0/1:-484.052,0,-688.006:823:423:387:10317:11988 0/1:-891.655,0,-1125.51:1307:661:636:17294:19411 1/1:-2590.31,-347.424,0:1355:34:1310:35858:757 0/1:-956.921,0,-1029.43:1362:640:705:18817:18477 1/1:-2556.82,-364.373,0:1344:24:1307:35563:503 1/1:-3132.64,-455.593,0:1617:20:1586:43390:373 1/1:-3245.5,-485.08,0:1705:19:1664:45121:354 0/1:-339.526,0,-711.311:882:477:384:9569:13678 1/1:-2287.79,-325.175,0:1119:8:1100:30187:143 0/1:-966.347,0,-1261.62:1582:813:754:19918:23130 0/1:-927.707,0,-1184.29:1472:722:735:19015:20791 1/1:-2912.56,-440.585,0:1536:15:1505:40510:274 1/1:-1694.41,-246.232,0:882:14:858:23571:221 1/1:-1303.55,-167.6,0:683:19:660:18045:486 0/1:-876.882,0,-1113.32:1399:696:687:17983:20188 0/1:-1167.29,0,-1240.15:1644:797:837:22690:22605 0/1:-1069.77,0,-1306.33:1650:839:794:21857:24086 . 0/1:-692.143,0,-966.905:1152:615:527:14065:17422 1/1:-2307.35,-341.016,0:1191:17:1164:31411:285 1/1:-1861.1,-259.641,0:967:20:943:25551:432 1/1:-2695.5,-399.622,0:1411:20:1375:36939:302 1/1:-1421.01,-210.403,0:753:7:736:19495:176 0/1:-836.901,0,-963.404:1237:618:612:16650:17302 0/1:-1256.79,0,-1434.7:1797:890:894:24090:25440 0/1:-870.657,0,-1019.17:1225:624:594:16455:18195 0/1:-953.415,0,-1230.82:1445:741:689:18539:21527 0/1:-1008.84,0,-1186.65:1491:744:734:19482:21355 0/1:-929.579,0,-1200.8:1501:765:719:18977:21798 . 0/1:-1753.09,0,-1881.45:1854:918:917:27630:28393:918,917 0/1:-1587.19,0,-1526.17:1558:762:780:24107:23407:762,780 0/1:-1659.82,0,-1932.77:1785:942:837:25889:29047:942,837 0/1:-975.961,0,-1094.36:1065:537:517:15443:16579:537,517 . 1/1:-4482.94,-502.414,0:1760:13:1735:53086:274:13,1735 0/1:-1418.34,0,-1691.22:1536:804:718:22091:25053:804,718 0/1:-1642.22,0,-1823.83:1728:878:836:25786:27294:878,836 0/1:-1468.1,0,-1591.28:1516:764:737:22587:23749:764,737 0/1:-1521.39,0,-1709.46:1634:822:798:24015:25672:822,798 0/1:-1644.07,0,-1984.62:1782:944:825:25687:29352:944,825 0/1:-1318.6,0,-1391.13:1325:661:659:20191:20801:661,659 . 0/1:-1437.14,0,-1605.12:1510:769:727:22437:24108:769,727 0/1:-1898.78,0,-1748.64:1856:881:960:29153:26885:881,960 0/1:-1466.34,0,-1627.01:1555:776:762:23198:24474:776,762 0/1:-1636.32,0,-1828.97:1739:897:832:25563:27593:897,832 0/1:-1424.76,0,-1378.12:1402:677:714:21823:20807:677,714 1/1:-3708.01,-394.457,0:1459:19:1433:44286:503:19,1433 1/1:-4889.81,-543.674,0:1941:16:1911:58361:428:16,1911 chr1 228505699 . T C 19109.41 . AB=0.487337;ABP=4.82514;AC=152;AF=0.5;AN=208;AO=635;CIGAR=1X;DP=161499;DPB=1303;DPRA=0;EPP=195.088;EPPR=56.8103;GTI=0;LEN=1;MEANALT=3;MQM=29.3417;MQMR=34.194;NS=1;NUMALT=1;ODDS=1790.33;PAIRED=0.911811;PAIREDR=0.939502;PAO=0;PQA=0;PQR=0;PRO=0;QA=16368;QR=14583;RO=562;RPL=322;RPP=3.28729;RPPR=4.26218;RPR=313;RUN=1;SAF=315;SAP=3.09579;SAR=320;SF=0,1;SRF=256;SRP=12.6699;SRR=306;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.T13956C:p.G4652G,OBSCN:NM_052843:exon53:c.T13956C:p.G4652G,OBSCN:NM_001271223:exon64:c.T16827C:p.G5609G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7531;esp6500siv2_ea=0.7008;esp6500siv2_all=0.7531;esp6500siv2_ea=0.7008;1000g2015aug_all=0.705871;avsnp147=rs1188728;Kaviar_AF=0.004172;Kaviar_AC=645;Kaviar_AN=154602;ExAC_ALL=0.6974;ExAC_AFR=0.8496;ExAC_AMR=0.7495;ExAC_EAS=0.7299;ExAC_FIN=0.7775;ExAC_NFE=0.7045;ExAC_OTH=0.65;ExAC_SAS=0.4961;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8011;dpsi_zscore=1.901;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6972;gnomAD_exome_AFR=0.8480;gnomAD_exome_AMR=0.7525;gnomAD_exome_ASJ=0.6392;gnomAD_exome_EAS=0.7294;gnomAD_exome_FIN=0.7722;gnomAD_exome_NFE=0.7007;gnomAD_exome_OTH=0.6869;gnomAD_exome_SAS=0.4973;gnomAD_genome_ALL=0.7600;gnomAD_genome_AFR=0.85;gnomAD_genome_AMR=0.7566;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7046;gnomAD_genome_FIN=0.7813;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7076;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-853.664,0,-792.355:1303:562:635:16368:14583 1/1:-3098.04,-472.933,0:1727:18:1636:43820:359 1/1:-2573.48,-362.249,0:1367:16:1288:34640:415 0/1:-709.139,0,-641.842:977:422:481:12832:11490 0/1:-890.154,0,-1109.93:1623:792:694:18510:20501 1/1:-3470.86,-509.74,0:1923:24:1822:48699:576 1/1:-2204.28,-333.154,0:1224:11:1160:31271:287 1/1:-2935.54,-415.689,0:1627:29:1538:41085:746 1/1:-2733.63,-390.267,0:1439:19:1375:36536:398 1/1:-3157.87,-470.62,0:1684:11:1613:42737:273 1/1:-2523.23,-366.306,0:1415:24:1347:35901:558 0/1:-1131,0,-911.175:1551:650:773:20514:17005 1/1:-2655.27,-386.149,0:1428:17:1351:36255:373 1/1:-2060.27,-324.943,0:1177:12:1103:28173:282 . 0/1:-1360.13,0,-1396.51:2179:970:1020:27311:25836 1/1:-1962.02,-294.999,0:1078:12:1029:27150:263 . 0/1:-1000.7,0,-1011.38:1521:682:724:19028:17928 . 1/1:-2079.04,-302.656,0:1099:10:1046:27911:211 0/1:-1097.59,0,-1192.07:1698:792:766:20605:21063 0/1:-510.201,0,-610.727:925:427:406:10801:11348 1/1:-3469.48,-513.728,0:1883:21:1792:47613:486 . 1/1:-2079.73,-325.018,0:1171:7:1121:29208:196 . 1/1:-2508.98,-368.344,0:1342:12:1273:33914:264 1/1:-2082.76,-333.071,0:1179:7:1118:29465:105 1/1:-2204.98,-319.608,0:1180:12:1117:29394:234 1/1:-2407.73,-349.724,0:1291:15:1220:32669:302 0/1:-1166.34,0,-1386.45:1936:909:904:23830:24261 0/1:-1136.35,0,-1244.6:1810:843:843:22123:22455 1/1:-3000.77,-451.202,0:1665:16:1583:41489:356 0/1:-968.882,0,-997.016:1466:684:668:18220:17936 1/1:-3576.87,-534.663,0:1914:13:1821:47933:257 0/1:-1347.72,0,-1345.29:2045:922:947:25540:24960 1/1:-2429.24,-339.968,0:1245:17:1182:32810:397 1/1:-2465.82,-373.081,0:1387:15:1315:35112:341 0/1:-740.22,0,-704.705:1116:511:520:13851:13281 1/1:-3603.39,-530.562,0:1881:11:1802:48274:252 0/1:-910.107,0,-955.829:1467:666:692:17823:17547 . 0/1:-853.135,0,-901.753:1350:610:651:16762:15840 0/1:-1191.4,0,-1131.58:1720:752:828:22530:20706 . 1/1:-2899.25,-439.349,0:1554:10:1481:39373:250 1/1:-1627.08,-240.954,0:860:4:825:22094:109 . . 1/1:-3557.46,-518.92,0:1909:17:1806:47455:413 1/1:-2481.52,-389.691,0:1405:9:1322:34404:173 0/1:-1150.59,0,-1375.05:1842:889:812:22415:23896 1/1:-3525.1,-503.001,0:1892:20:1790:47507:513 1/1:-1933.34,-300.945,0:1162:19:1071:27530:392 0/1:-788.12,0,-931.101:1283:611:588:15558:15928 0/1:-1117.75,0,-1216.97:1850:843:843:21892:22313 0/1:-544.288,0,-633.568:983:451:449:11472:11987 0/1:-731.054,0,-690.478:1121:493:522:13761:13072 1/1:-3448.73,-504.628,0:1873:21:1755:46238:418 0/1:-523.246,0,-721.929:1020:505:437:11561:13036 0/1:-1314.39,0,-1305.01:2017:907:953:25036:23985 0/1:-920.157,0,-994.688:1423:646:655:17098:17528 0/1:-605.723,0,-699.118:1100:500:509:13252:12968 1/1:-3156.66,-465.82,0:1693:20:1627:43434:489 1/1:-3100.43,-452.672,0:1667:19:1583:41785:445 0/1:-506.115,0,-614.574:922:433:422:11152:11432 0/1:-969.168,0,-1127.55:1538:748:693:18872:19797 1/1:-2706,-389.859,0:1508:23:1420:37622:554 0/1:-1015.69,0,-1071.3:1642:741:786:20317:19534 1/1:-2805.33,-412.065,0:1533:21:1446:38357:431 1/1:-3481.4,-521.711,0:1863:16:1778:47402:408 1/1:-3452.56,-524.29,0:1871:11:1781:47948:205 0/1:-404.861,0,-657.095:994:487:431:10595:13018 1/1:-2412.62,-341.157,0:1214:8:1168:31882:205 0/1:-1063.02,0,-1207.97:1812:818:813:21346:22075 0/1:-1067.51,0,-1161.14:1698:749:805:21021:20259 1/1:-3225.82,-489.545,0:1788:19:1686:44805:411 1/1:-1884.39,-272.936,0:1007:15:944:25703:344 1/1:-1448.86,-200.654,0:769:9:731:20163:269 0/1:-923.354,0,-1092.18:1636:754:738:19266:19953 0/1:-1330.62,0,-1109.93:1890:794:952:25586:20805 0/1:-1141.2,0,-1181.45:1823:827:852:22820:22295 . 0/1:-815.448,0,-889.621:1340:621:606:15910:16426 1/1:-2574.52,-391.404,0:1392:9:1324:34900:168 1/1:-2058.58,-282.768,0:1092:18:1022:27906:438 1/1:-2915.77,-440.957,0:1590:9:1508:39603:246 1/1:-1550.27,-234.008,0:829:6:793:21251:84 0/1:-899.498,0,-866.675:1422:634:668:17769:16242 0/1:-1375.94,0,-1298.99:2020:899:971:26432:23915 0/1:-1017.92,0,-860.39:1441:625:703:18301:16454 0/1:-1090.35,0,-1179.16:1677:787:768:20555:20900 0/1:-1118.2,0,-1081.13:1646:748:787:21254:20005 0/1:-1088.92,0,-1073.25:1754:780:823:20966:20502 . 0/1:-2082.75,0,-2098.45:2219:1078:1078:33007:31910:1078,1078 0/1:-1787.33,0,-1671.19:1802:870:888:27355:25841:870,888 0/1:-1925.31,0,-2096.97:2077:1052:975:29952:31623:1052,975 0/1:-1132.64,0,-1159.36:1234:607:593:18029:17828:607,593 . 1/1:-5146.38,-580.764,0:2015:11:1980:60854:256:11,1980 0/1:-1591.48,0,-1706.53:1709:875:793:24756:25679:875,793 0/1:-1912.03,0,-1762.34:1923:916:959:29660:27213:916,959 0/1:-1689.38,0,-1707.53:1788:887:847:26000:25952:887,847 0/1:-1743.09,0,-1716.72:1857:903:900:27756:26437:903,900 0/1:-1818.29,0,-2001.72:1980:1016:922:28262:30000:1016,922 0/1:-1445.71,0,-1446.41:1507:746:728:22305:21951:746,728 1/1:-4291.69,-494.131,0:1718:7:1685:51102:208:7,1685 0/1:-1610.68,0,-1686.14:1708:855:809:25158:25490:855,809 0/1:-2259.31,0,-1937.13:2172:1017:1108:34222:30033:1017,1108 0/1:-1667.88,0,-1831.62:1865:949:876:26854:27870:949,876 0/1:-1888.02,0,-1948.21:2016:1015:945:29271:29590:1015,945 0/1:-1667.09,0,-1384.56:1611:741:827:25562:21567:741,827 1/1:-4146.73,-436.438,0:1647:21:1601:49396:592:21,1601 1/1:-5682.76,-631.919,0:2273:19:2219:68005:497:19,2219 chr1 228505727 . C T 7361.50 . AB=0.420322;ABP=126.199;AC=9;AF=0.5;AN=18;AO=939;CIGAR=1X;DP=14659;DPB=2234;DPRA=0;EPP=89.15;EPPR=193.254;GTI=0;LEN=1;MEANALT=3;MQM=29.5122;MQMR=33.2755;NS=1;NUMALT=1;ODDS=2351.69;PAIRED=0.889244;PAIREDR=0.897123;PAO=0;PQA=0;PQR=0;PRO=0;QA=22784;QR=33729;RO=1147;RPL=427;RPP=19.7184;RPPR=82.571;RPR=512;RUN=1;SAF=444;SAP=9.02521;SAR=495;SF=0;SRF=488;SRP=58.3686;SRR=659;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13984T:p.R4662C,OBSCN:NM_052843:exon53:c.C13984T:p.R4662C,OBSCN:NM_001271223:exon64:c.C16855T:p.R5619C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0186;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0186;1000g2015aug_all=0.086262;avsnp147=rs3795800;Kaviar_AF=0.0456721;Kaviar_AC=7061;Kaviar_AN=154602;ExAC_ALL=0.0488;ExAC_AFR=0.0186;ExAC_AMR=0.0071;ExAC_EAS=0.3413;ExAC_FIN=0.0564;ExAC_NFE=0.0226;ExAC_OTH=0.04;ExAC_SAS=0.0470;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.792;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.965;MutationAssessor_pred=M;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_pred=N;VEST3_score=0.245;CADD_raw=2.382;CADD_phred=18.70;DANN_score=0.769;fathmm-MKL_coding_score=0.047;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=0.197;phyloP7way_vertebrate=-0.067;phyloP20way_mammalian=-1.171;phastCons7way_vertebrate=0.084;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=3.625;GDI_full_10282015=.;dpsi_max_tissue=-0.9126;dpsi_zscore=-1.419;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0482;gnomAD_exome_AFR=0.0176;gnomAD_exome_AMR=0.0085;gnomAD_exome_ASJ=0.0131;gnomAD_exome_EAS=0.3435;gnomAD_exome_FIN=0.0564;gnomAD_exome_NFE=0.0218;gnomAD_exome_OTH=0.0338;gnomAD_exome_SAS=0.0448;gnomAD_genome_ALL=0.0408;gnomAD_genome_AFR=0.0190;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.3220;gnomAD_genome_FIN=0.0532;gnomAD_genome_NFE=0.0222;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-1045.28,0,-1954.52:2234:1147:939:22784:33729 . . . . . . . 0/1:-883.341,0,-1511.39:1901:968:799:18973:28631 . . . . 0/1:-498.004,0,-749.29:1128:554:492:11190:15768 . . . 0/1:-785.478,0,-1636.75:1763:939:711:17388:27206 . . . . . . . . . . . . . . 0/1:-423.768,0,-584.646:817:396:358:8685:11488 . . 0/1:-930.015,0,-1546.1:1868:934:810:19410:27531 . . . . 0/1:-577.556,0,-1283.96:1316:706:520:12643:20667 0/1:-740.191,0,-1543.29:1749:909:704:16432:26466 . . . . . . . . . . . . . . 0/1:-933.482,0,-1512.25:1883:994:782:19294:29271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228505739 . G A 10854.19 . AB=0;ABP=0;AC=49;AF=1;AN=86;AO=1449;CIGAR=1X;DP=60919;DPB=1577;DPRA=0;EPP=92.9638;EPPR=46.79;GTI=0;LEN=1;MEANALT=3;MQM=28.5832;MQMR=28.4194;NS=1;NUMALT=1;ODDS=1796.7;PAIRED=0.881988;PAIREDR=0.903226;PAO=0;PQA=0;PQR=0;PRO=0;QA=38633;QR=750;RO=31;RPL=627;RPP=59.9946;RPPR=6.44263;RPR=822;RUN=1;SAF=575;SAP=136.987;SAR=874;SF=0,1;SRF=16;SRP=3.08035;SRR=15;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.G13996A:p.G4666S,OBSCN:NM_052843:exon53:c.G13996A:p.G4666S,OBSCN:NM_001271223:exon64:c.G16867A:p.G5623S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1954;esp6500siv2_ea=0.1735;esp6500siv2_all=0.1954;esp6500siv2_ea=0.1735;1000g2015aug_all=0.173123;avsnp147=rs3795801;Kaviar_AF=0.17992;Kaviar_AC=27816;Kaviar_AN=154602;ExAC_ALL=0.1843;ExAC_AFR=0.2401;ExAC_AMR=0.3194;ExAC_EAS=0.1509;ExAC_FIN=0.1498;ExAC_NFE=0.1804;ExAC_OTH=0.1811;ExAC_SAS=0.1039;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.385;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.795;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.525;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.313;CADD_phred=5.818;DANN_score=0.750;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.951;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-5.37;phyloP7way_vertebrate=-0.913;phyloP20way_mammalian=-1.100;phastCons7way_vertebrate=0.011;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=20.253;GDI_full_10282015=.;dpsi_max_tissue=-1.2497;dpsi_zscore=-1.603;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1889;gnomAD_exome_AFR=0.2469;gnomAD_exome_AMR=0.3140;gnomAD_exome_ASJ=0.2105;gnomAD_exome_EAS=0.1521;gnomAD_exome_FIN=0.1507;gnomAD_exome_NFE=0.1780;gnomAD_exome_OTH=0.1891;gnomAD_exome_SAS=0.1047;gnomAD_genome_ALL=0.1913;gnomAD_genome_AFR=0.2457;gnomAD_genome_AMR=0.3019;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.1361;gnomAD_genome_FIN=0.1618;gnomAD_genome_NFE=0.1681;gnomAD_genome_OTH=0.1670;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2682.96,-389.283,0:1577:31:1449:38633:750 . . . 1/1:-3145.84,-411.134,0:1805:49:1652:44835:1263 1/1:-2017.9,-281.144,0:1196:32:1068:28591:760 0/1:-873.019,0,-1213.09:1550:780:682:18210:22840 0/1:-796.722,0,-1147.02:1311:691:566:15425:20683 . 0/1:-776.671,0,-978.135:1339:649:630:16237:19379 . 0/1:-700.199,0,-1172.62:1314:711:551:15029:21229 . . . . . . . . . 0/1:-363.193,0,-765.961:810:449:320:8556:13338 0/1:-1161.83,0,-1413.45:1838:910:855:22867:27565 . 0/1:-660.897,0,-822.977:1119:550:520:14090:16434 . . 0/1:-586.626,0,-810.768:1079:543:485:12623:16313 . . 0/1:-981.386,0,-1639.66:1768:921:777:20745:27890 . . . . . 0/1:-809.664,0,-952.811:1179:577:551:15332:17600 1/1:-2265.36,-315.36,0:1351:36:1227:32810:821 . 0/1:-1136.18,0,-1393.1:1750:847:835:22058:25442 . . 0/1:-772.136,0,-1100.57:1281:628:596:15659:18729 . . . 0/1:-438.145,0,-642.513:777:404:338:9073:12016 . . . . 0/1:-902.881,0,-1897.1:1815:1026:718:19197:31147 . . . . 0/1:-523.09,0,-773.874:934:461:427:11094:13570 . . 0/1:-405.102,0,-944.128:988:545:384:10211:15859 . . 0/1:-576.586,0,-799.171:1002:494:464:12578:14633 0/1:-986.958,0,-1419.82:1674:861:723:19904:26097 . . . 1/1:-2373.22,-302.682,0:1422:58:1269:33716:1409 0/1:-774.47,0,-1420.85:1529:800:663:16952:23955 0/1:-712.954,0,-1439.86:1528:845:608:15673:25535 0/1:-1199.31,0,-1475.73:1852:903:859:23542:27246 0/1:-949.341,0,-1393.6:1706:873:756:20428:25870 0/1:-370.917,0,-746.097:942:504:388:9881:14183 . . . 0/1:-1046.25,0,-1241.57:1697:827:803:21184:24817 0/1:-491.684,0,-835.525:947:503:402:10566:14957 . 0/1:-779.41,0,-1507.41:1625:875:669:17273:25943 0/1:-1133.92,0,-1500.01:1823:881:857:22865:26326 0/1:-919.647,0,-1562.56:1744:913:743:19560:27312 . . 0/1:-732.587,0,-1163.97:1349:713:580:15258:21279 0/1:-666.526,0,-855.283:1030:519:463:12714:15543 . 1/1:-1405.01,-197.309,0:795:14:721:19193:305 0/1:-740.679,0,-1113.82:1304:655:591:15517:19825 . . . . . . 0/1:-1684.8,0,-2290.45:2058:1099:917:27507:33685:1099,917 . . 0/1:-1122.58,0,-1115.33:1159:561:583:17366:17200:561,583 . . . 0/1:-1770,0,-1817.92:1859:898:928:27663:27796:898,928 . 0/1:-1499.24,0,-1886.55:1737:901:804:24035:27900:901,804 . . . . . 0/1:-1631.19,0,-1981.03:1849:940:871:26098:29516:940,871 . 0/1:-1496.57,0,-1485.23:1507:729:753:23144:22590:729,753 . . chr1 228506649 . G A 4670.97 . AB=0.465426;ABP=10.8184;AC=1;AF=0.5;AN=2;AO=350;CIGAR=1X;DP=752;DPB=752;DPRA=0;EPP=7.8744;EPPR=5.61962;GTI=0;LEN=1;MEANALT=3;MQM=31.9457;MQMR=34.0654;NS=1;NUMALT=1;ODDS=1075.53;PAIRED=0.885714;PAIREDR=0.918256;PAO=0;PQA=0;PQR=0;PRO=0;QA=9187;QR=10963;RO=367;RPL=219;RPP=51.0557;RPPR=11.1104;RPR=131;RUN=1;SAF=204;SAP=23.8813;SAR=146;SF=0;SRF=216;SRP=28.0089;SRR=151;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon54:c.G14196A:p.Q4732Q,OBSCN:NM_052843:exon54:c.G14196A:p.Q4732Q,OBSCN:NM_001271223:exon65:c.G17067A:p.Q5689Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764754075;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1225;dpsi_zscore=0.548;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.22e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=4.809e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-482.241,0,-627.247:752:367:350:9187:10963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228506661 . G A 6738.98 . AB=0.433635;ABP=53.7369;AC=10;AF=0.5;AN=20;AO=575;CIGAR=1X;DP=10557;DPB=1326;DPRA=0;EPP=38.5431;EPPR=4.86055;GTI=0;LEN=1;MEANALT=3;MQM=29.3757;MQMR=32.2544;NS=1;NUMALT=1;ODDS=1561.66;PAIRED=0.867826;PAIREDR=0.926036;PAO=0;PQA=0;PQR=0;PRO=0;QA=14886;QR=20032;RO=676;RPL=310;RPP=10.6577;RPPR=16.1676;RPR=265;RUN=1;SAF=306;SAP=8.18029;SAR=269;SF=0,1;SRF=382;SRP=27.8859;SRR=294;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon54:c.G14208A:p.L4736L,OBSCN:NM_052843:exon54:c.G14208A:p.L4736L,OBSCN:NM_001271223:exon65:c.G17079A:p.L5693L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0169;esp6500siv2_ea=0.0230;esp6500siv2_all=0.0169;esp6500siv2_ea=0.0230;1000g2015aug_all=0.0107827;avsnp147=rs41305126;Kaviar_AF=0.0139196;Kaviar_AC=2152;Kaviar_AN=154602;ExAC_ALL=0.0416;ExAC_AFR=0.0058;ExAC_AMR=0.0401;ExAC_EAS=0;ExAC_FIN=0.0328;ExAC_NFE=0.0592;ExAC_OTH=0.0476;ExAC_SAS=0.0205;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0081;dpsi_zscore=-0.024;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0163;gnomAD_exome_AFR=0.0040;gnomAD_exome_AMR=0.0138;gnomAD_exome_ASJ=0.0361;gnomAD_exome_EAS=8.022e-05;gnomAD_exome_FIN=0.0105;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0159;gnomAD_exome_SAS=0.0084;gnomAD_genome_ALL=0.0129;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0144;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0120;gnomAD_genome_NFE=0.0184;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-692.916,0,-1128.35:1326:676:575:14886:20032 . . . . . . . . . . . . . . . . . 0/1:-549.606,0,-638.455:887:423:419:10769:12385 . . 0/1:-456.737,0,-839.09:919:485:370:9463:14761 . . 0/1:-863.295,0,-1064.06:1364:672:627:16276:19602 . . . . . . . . 0/1:-830.92,0,-1160.33:1408:703:635:16558:21011 . . . . . . 0/1:-493.569,0,-495.08:692:322:332:8871:9304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-969.593,0,-1259.77:1150:591:534:15383:18803:591,534 . 0/1:-855.943,0,-1046.4:980:503:457:13266:15585:503,457 . . . . . 0/1:-910.816,0,-1006.92:980:486:475:13915:15035:486,475 . 0/1:-791.503,0,-884.254:851:421:412:12101:13398:421,412 . . chr1 228509427 . A G 20421.70 . AB=0.46813;ABP=11.4534;AC=152;AF=0.5;AN=208;AO=448;CIGAR=1X;DP=136817;DPB=957;DPRA=0;EPP=35.6018;EPPR=29.2497;GTI=0;LEN=1;MEANALT=3;MQM=33.8147;MQMR=36.1025;NS=1;NUMALT=1;ODDS=1776.21;PAIRED=0.933036;PAIREDR=0.895397;PAO=0;PQA=0;PQR=0;PRO=0;QA=13766;QR=13502;RO=478;RPL=188;RPP=28.1373;RPPR=50.2739;RPR=260;RUN=1;SAF=277;SAP=57.4716;SAR=171;SF=0,1;SRF=277;SRP=29.2497;SRR=201;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.A14885G:p.D4962G,OBSCN:NM_052843:exon55:c.A14885G:p.D4962G,OBSCN:NM_001271223:exon66:c.A17756G:p.D5919G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7397;esp6500siv2_ea=0.6968;esp6500siv2_all=0.7397;esp6500siv2_ea=0.6968;1000g2015aug_all=0.684704;avsnp147=rs373610;Kaviar_AF=0.678102;Kaviar_AC=104836;Kaviar_AN=154602;ExAC_ALL=0.6862;ExAC_AFR=0.8257;ExAC_AMR=0.7027;ExAC_EAS=0.6881;ExAC_FIN=0.7721;ExAC_NFE=0.7021;ExAC_OTH=0.6448;ExAC_SAS=0.4946;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.125;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.08;MutationAssessor_pred=N;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_pred=N;VEST3_score=0.073;CADD_raw=-0.311;CADD_phred=0.626;DANN_score=0.720;fathmm-MKL_coding_score=0.273;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.006;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=1.91;phyloP7way_vertebrate=-2.136;phyloP20way_mammalian=-1.014;phastCons7way_vertebrate=0.036;phastCons20way_mammalian=0.036;SiPhy_29way_logOdds=4.77;GDI_full_10282015=.;dpsi_max_tissue=-0.0536;dpsi_zscore=-0.281;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6860;gnomAD_exome_AFR=0.8249;gnomAD_exome_AMR=0.7096;gnomAD_exome_ASJ=0.6381;gnomAD_exome_EAS=0.6892;gnomAD_exome_FIN=0.7701;gnomAD_exome_NFE=0.6995;gnomAD_exome_OTH=0.6774;gnomAD_exome_SAS=0.4964;gnomAD_genome_ALL=0.7495;gnomAD_genome_AFR=0.8238;gnomAD_genome_AMR=0.7124;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.6693;gnomAD_genome_FIN=0.7814;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7026;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-790.036,0,-803.536:957:478:448:13766:13502 1/1:-3561.62,-409.558,0:1479:13:1443:45527:336 1/1:-2867.21,-352.891,0:1207:3:1191:36671:86 0/1:-709.92,0,-665.534:815:390:392:12363:11218 0/1:-1101.68,0,-1114.57:1293:646:597:18423:18750 1/1:-3827.36,-465.052,0:1622:7:1599:49279:208 1/1:-2711.2,-319.078,0:1126:8:1099:34668:223 1/1:-3346.44,-392.194,0:1418:15:1379:42622:355 1/1:-2813.09,-330.687,0:1202:12:1172:36263:327 1/1:-3248.58,-391.285,0:1345:4:1327:41063:114 1/1:-2820.91,-331.34,0:1210:18:1180:36474:382 0/1:-1102.91,0,-941.11:1205:555:609:18656:16060 1/1:-2811.32,-332.266,0:1185:8:1162:36099:226 1/1:-2634.46,-319.562,0:1138:8:1110:34520:201 . 0/1:-1633.28,0,-1622.15:1887:950:890:27667:27185 1/1:-2198.19,-268.424,0:941:5:916:27875:127 . 0/1:-1106.47,0,-1110.35:1265:625:606:18696:18263 . 1/1:-2433.18,-294.383,0:1033:8:1013:31256:170 0/1:-1192.48,0,-1166.14:1357:677:631:19916:19514 0/1:-728.001,0,-602.752:764:367:376:12029:10454 1/1:-3535.5,-417.93,0:1473:10:1450:44773:307 . 1/1:-2197.91,-260.619,0:957:10:933:28780:299 . 1/1:-2736.05,-317.202,0:1149:11:1125:35337:299 1/1:-2562.15,-327.994,0:1141:7:1120:33743:142 1/1:-2541.94,-296.198,0:1063:9:1042:32579:253 1/1:-2417.47,-288.815,0:1013:6:994:31308:150 0/1:-1375.46,0,-1277.02:1529:745:725:22634:21604 0/1:-1179.16,0,-1309.43:1460:757:659:20537:21667 1/1:-3508.48,-420.474,0:1524:14:1486:45536:389 0/1:-1062.25,0,-1131.82:1295:651:604:18691:18832 1/1:-3642.64,-438.171,0:1534:11:1508:46952:283 0/1:-1682.61,0,-1643.52:2016:987:951:29096:27916 1/1:-2462.29,-292.116,0:1000:3:986:30933:64 1/1:-3160.46,-374.173,0:1329:12:1297:40290:259 0/1:-823.729,0,-888.85:1020:510:475:14416:14805 1/1:-3663.39,-442.132,0:1510:4:1493:46398:96 0/1:-1214.45,0,-1073.93:1322:618:668:20663:17777 . 0/1:-1045.09,0,-922.543:1125:540:553:17245:15395 0/1:-1280.02,0,-1271.66:1530:765:721:22406:21609 . 1/1:-3404.66,-417.279,0:1406:1:1386:43319:14 1/1:-2045.75,-238.014,0:828:4:820:25733:113 . . 1/1:-3579.69,-429.735,0:1498:7:1469:45539:167 1/1:-2643.34,-312.956,0:1153:14:1122:34477:395 0/1:-1167.75,0,-1469.24:1535:818:670:20662:23660 1/1:-3946.13,-467.189,0:1676:13:1636:50600:376 1/1:-2221.81,-276.456,0:974:7:954:28938:185 0/1:-975.69,0,-901.653:1057:521:505:15803:14971 0/1:-1323.13,0,-1401.32:1575:793:729:22386:22854 0/1:-766.761,0,-663.694:882:416:432:13386:11723 0/1:-822.16,0,-818.512:960:482:453:14117:13793 1/1:-3537.71,-413.787,0:1512:15:1484:45939:476 0/1:-762.828,0,-788.35:955:483:443:13419:13430 0/1:-1500.35,0,-1650.99:1859:952:846:26136:27071 0/1:-1197.82,0,-1144.79:1403:686:665:20278:19340 0/1:-777.397,0,-712.749:909:435:441:13710:12505 1/1:-3702.21,-420.597,0:1578:22:1541:47792:628 1/1:-3590.9,-421.858,0:1478:9:1452:45914:235 0/1:-589.239,0,-616.074:754:379:353:10309:10689 0/1:-985.496,0,-1002.2:1180:588:547:16666:16633 1/1:-3048.01,-356.304,0:1290:13:1262:39077:374 0/1:-1375.54,0,-990.433:1387:610:724:22746:17211 1/1:-3015.51,-354.331,0:1278:11:1253:38809:298 1/1:-4028.65,-471.364,0:1658:9:1633:51797:272 1/1:-3450.43,-411.355,0:1428:7:1409:44023:200 0/1:-585.028,0,-673.058:874:429:404:11782:12272 1/1:-2512.6,-292.301,0:1027:6:1010:31660:164 0/1:-1388.98,0,-1526.47:1767:889:803:24659:25426 0/1:-1439.54,0,-1349.19:1618:777:789:24514:22145 1/1:-3701.18,-436.306,0:1555:11:1523:47480:304 1/1:-1948.89,-231.589,0:822:5:801:25094:135 1/1:-1711.13,-203.505,0:735:5:718:22715:168 0/1:-1038.56,0,-1057.81:1282:623:601:18504:17865 0/1:-1461.46,0,-1171.36:1564:712:786:24532:20243 0/1:-1383.89,0,-1383.63:1648:810:774:23944:23125 . 0/1:-1151.99,0,-885.725:1263:566:649:19699:15786 1/1:-3101.94,-369.534,0:1288:7:1273:39868:230 1/1:-2040.96,-228.255,0:856:14:838:26298:371 1/1:-3476.25,-419.585,0:1436:4:1417:43958:92 1/1:-1752.97,-207.083,0:729:6:713:22271:106 0/1:-1015.1,0,-829.275:1080:512:530:16577:14150 0/1:-1672.48,0,-1467.96:1758:848:865:27182:24526 0/1:-1194.76,0,-1153.91:1390:677:653:20169:19216 0/1:-1381.52,0,-1170.01:1502:702:738:22840:19798 0/1:-1383.93,0,-1405.92:1613:810:747:23379:23187 0/1:-1383.92,0,-1148.71:1529:703:765:23581:20106 . 0/1:-1555.53,0,-1751.99:1634:859:735:23791:26111:859,735 0/1:-1635.21,0,-1649.73:1596:807:755:24678:24572:807,755 0/1:-1551.47,0,-1667.07:1583:822:727:23688:24701:822,727 0/1:-1261.78,0,-982.417:1096:492:572:18499:15015:492,572 . 1/1:-4159.36,-434.703,0:1523:8:1502:48523:245:8,1502 0/1:-1356.32,0,-1597.2:1468:789:654:21169:23562:789,654 0/1:-1651.78,0,-1596.64:1614:807:758:24764:24156:807,758 0/1:-1409.66,0,-1553.83:1442:754:653:21255:23008:754,653 0/1:-1593.84,0,-1682.66:1607:822:742:24073:24990:822,742 0/1:-1669.82,0,-1694.74:1657:848:781:25314:25384:848,781 0/1:-1282.39,0,-1235.99:1200:599:579:18964:18414:599,579 1/1:-3938.89,-424.702,0:1475:6:1453:46353:164:6,1453 0/1:-1282.19,0,-1328.03:1304:665:609:19601:19778:665,609 0/1:-1693.98,0,-1516.88:1595:759:799:25344:22920:759,799 0/1:-1440.43,0,-1449.1:1434:721:675:21683:21702:721,675 0/1:-1550.02,0,-1590.64:1553:793:728:23686:23647:793,728 0/1:-1244.31,0,-1401.87:1293:682:584:19000:20642:682,584 1/1:-3315.07,-343.816,0:1209:7:1190:38808:189:7,1190 1/1:-4186.85,-423.217,0:1546:15:1515:48967:461:15,1515 chr1 228509681 . G T 7535.59 . AB=0.427877;ABP=58.7647;AC=1;AF=0.5;AN=2;AO=528;CIGAR=1X;DP=1234;DPB=1234;DPRA=0;EPP=5.37918;EPPR=4.14804;GTI=0;LEN=1;MEANALT=3;MQM=33.5909;MQMR=35.0624;NS=1;NUMALT=1;ODDS=1735.13;PAIRED=0.931818;PAIREDR=0.934688;PAO=0;PQA=0;PQR=0;PRO=0;QA=14562;QR=20974;RO=689;RPL=239;RPP=13.2919;RPPR=7.80393;RPR=289;RUN=1;SAF=243;SAP=10.265;SAR=285;SF=0;SRF=364;SRP=7.80393;SRR=325;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.G15139T:p.D5047Y,OBSCN:NM_052843:exon55:c.G15139T:p.D5047Y,OBSCN:NM_001271223:exon66:c.G18010T:p.D6004Y;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;1000g2015aug_all=0.000599042;avsnp147=rs41305122;Kaviar_AF=0.000718;Kaviar_AC=111;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0005;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0010;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0.0005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.977;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=0.16;FATHMM_pred=T;PROVEAN_score=-4.61;PROVEAN_pred=D;VEST3_score=0.652;CADD_raw=3.543;CADD_phred=23.1;DANN_score=0.966;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.402;MetaSVM_pred=T;MetaLR_score=0.340;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=4.15;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.949;phastCons20way_mammalian=0.524;SiPhy_29way_logOdds=13.115;GDI_full_10282015=.;dpsi_max_tissue=-0.0237;dpsi_zscore=-0.127;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.962e-05;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-768.202,0,-1288.97:1234:689:528:14562:20974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228509797 . G A 7240.85 . AB=0.465347;ABP=14.5987;AC=1;AF=0.5;AN=2;AO=517;CIGAR=1X;DP=1111;DPB=1111;DPRA=0;EPP=3.0481;EPPR=25.9818;GTI=0;LEN=1;MEANALT=3;MQM=31.8433;MQMR=34.3077;NS=1;NUMALT=1;ODDS=1667.27;PAIRED=0.907157;PAIREDR=0.932234;PAO=0;PQA=0;PQR=0;PRO=0;QA=14014;QR=15712;RO=546;RPL=290;RPP=19.6807;RPPR=29.752;RPR=227;RUN=1;SAF=188;SAP=86.5133;SAR=329;SF=0;SRF=227;SRP=36.6721;SRR=319;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.G15255A:p.G5085G,OBSCN:NM_052843:exon55:c.G15255A:p.G5085G,OBSCN:NM_001271223:exon66:c.G18126A:p.G6042G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs760572356;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=9.162e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.644e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0861;dpsi_zscore=0.439;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.122e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.161e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-741.868,0,-900.235:1111:546:517:14014:15712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228520597 . C T 3491.65 . AB=0.440351;ABP=20.6259;AC=1;AF=0.5;AN=2;AO=251;CIGAR=1X;DP=570;DPB=570;DPRA=0;EPP=6.13341;EPPR=3.12768;GTI=0;LEN=1;MEANALT=3;MQM=33.4343;MQMR=33.8953;NS=1;NUMALT=1;ODDS=803.982;PAIRED=0.856574;PAIREDR=0.871622;PAO=0;PQA=0;PQR=0;PRO=0;QA=6923;QR=9272;RO=296;RPL=66;RPP=125.521;RPPR=115.809;RPR=185;RUN=1;SAF=159;SAP=41.8459;SAR=92;SF=0;SRF=184;SRP=41.0404;SRR=112;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon57:c.C15689T:p.T5230M,OBSCN:NM_052843:exon57:c.C15689T:p.T5230M,OBSCN:NM_001271223:exon68:c.C18560T:p.T6187M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs200262505;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0001;ExAC_AMR=0.0020;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.33;FATHMM_pred=T;PROVEAN_score=-4.01;PROVEAN_pred=D;VEST3_score=0.62;CADD_raw=7.382;CADD_phred=34;DANN_score=0.995;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.491;MetaSVM_pred=T;MetaLR_score=0.334;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.54;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.937;phastCons20way_mammalian=0.547;SiPhy_29way_logOdds=19.679;GDI_full_10282015=.;dpsi_max_tissue=-0.2788;dpsi_zscore=-0.821;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=6.54e-05;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-374.259,0,-536.511:570:296:251:6923:9272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228520880 . C T 11021.19 . AB=0.419255;ABP=57.7152;AC=75;AF=0.5;AN=120;AO=405;CIGAR=1X;DP=75079;DPB=966;DPRA=0;EPP=62.1226;EPPR=56.2114;GTI=0;LEN=1;MEANALT=3;MQM=29.684;MQMR=30.7656;NS=1;NUMALT=1;ODDS=1155.65;PAIRED=0.916049;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=11221;QR=15916;RO=512;RPL=125;RPP=131.824;RPPR=179.51;RPR=280;RUN=1;SAF=254;SAP=59.8922;SAR=151;SF=0,1;SRF=300;SRP=35.8538;SRR=212;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3997;esp6500siv2_ea=0.4158;esp6500siv2_all=0.3997;esp6500siv2_ea=0.4158;1000g2015aug_all=0.341853;avsnp147=rs416564;Kaviar_AF=0.320293;Kaviar_AC=49518;Kaviar_AN=154602;ExAC_ALL=0.3974;ExAC_AFR=0.4161;ExAC_AMR=0.3715;ExAC_EAS=0.2331;ExAC_FIN=0.5008;ExAC_NFE=0.4551;ExAC_OTH=0.3556;ExAC_SAS=0.2554;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1562;dpsi_zscore=-0.595;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3587;gnomAD_exome_AFR=0.3788;gnomAD_exome_AMR=0.3309;gnomAD_exome_ASJ=0.3502;gnomAD_exome_EAS=0.1935;gnomAD_exome_FIN=0.4522;gnomAD_exome_NFE=0.4122;gnomAD_exome_OTH=0.3721;gnomAD_exome_SAS=0.2324;gnomAD_genome_ALL=0.4194;gnomAD_genome_AFR=0.4012;gnomAD_genome_AMR=0.3553;gnomAD_genome_ASJ=0.35;gnomAD_genome_EAS=0.2056;gnomAD_genome_FIN=0.4639;gnomAD_genome_NFE=0.4488;gnomAD_genome_OTH=0.4045;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-536.575,0,-855.451:966:512:405:11221:15916 . 1/1:-1951.28,-269.426,0:1086:21:999:27188:555 0/1:-375.741,0,-690.997:731:392:299:8082:12206 0/1:-683.349,0,-1123.78:1303:696:542:14827:21250 . . 0/1:-764.67,0,-1288.91:1417:773:580:15933:23390 0/1:-726.314,0,-965.004:1131:551:527:14334:17358 1/1:-2100.15,-287.902,0:1214:29:1105:29961:716 0/1:-541.499,0,-944.989:1038:554:429:11333:17069 0/1:-708.786,0,-947.493:1140:552:535:14596:17190 0/1:-828.258,0,-811.308:1135:509:574:15849:15359 1/1:-1516.64,-211.389,0:900:23:816:22146:547 . . 1/1:-1521.93,-210.822,0:848:14:778:21455:437 . 0/1:-576.811,0,-1044.52:1077:578:444:11976:17911 . 1/1:-1693.14,-239.315,0:953:14:872:23591:378 . . . . 0/1:-509.837,0,-745.778:928:476:404:10939:14538 . . . 1/1:-1765.09,-248.695,0:981:19:888:24231:412 0/1:-632.97,0,-802.855:980:490:439:12581:14902 . . 0/1:-796.182,0,-1173.77:1394:701:604:16588:21650 0/1:-700.606,0,-840.26:1088:518:510:13804:16036 1/1:-2220.56,-315.48,0:1290:26:1164:31468:624 0/1:-1046.67,0,-1360.78:1616:802:740:20346:24762 0/1:-587.32,0,-977.029:1069:576:447:12145:17900 . . 0/1:-1018.06,0,-1169.22:1439:695:692:19339:21517 . . . 0/1:-850.137,0,-1063.19:1337:653:620:16577:20355 . 1/1:-2333.15,-340.721,0:1321:18:1208:32343:393 . . . 0/1:-881.7,0,-1279.59:1455:760:631:17342:23837 1/1:-1859.53,-270.602,0:1136:32:1018:26993:633 . 1/1:-2563.25,-335.174,0:1485:39:1330:36347:1087 1/1:-1485.84,-218.35,0:827:11:754:20722:216 . . . 0/1:-457.935,0,-724.148:826:426:369:9545:13092 0/1:-839.572,0,-1201.41:1389:711:612:16991:22167 . 0/1:-952.259,0,-1390.18:1600:822:700:18879:25545 0/1:-673.362,0,-1075.1:1123:591:487:13193:18538 . 0/1:-797.21,0,-1179.87:1384:715:611:16590:22232 1/1:-2389.18,-333.051,0:1355:26:1232:33098:679 . 0/1:-688.301,0,-977.795:1161:581:528:13847:18136 . . 0/1:-846.013,0,-1027.89:1316:635:611:16885:19425 . 0/1:-817.868,0,-1187.88:1350:679:604:16469:21355 . . 0/1:-959.693,0,-1228.49:1587:773:748:19936:23579 0/1:-879.79,0,-1143.16:1384:691:622:17106:21457 0/1:-890.532,0,-1128.2:1375:665:637:17415:20801 0/1:-418.295,0,-684.094:767:387:327:8670:12133 1/1:-1243.27,-174.833,0:695:13:642:17426:336 . . . . 0/1:-642.281,0,-988.816:1151:601:499:13607:18579 0/1:-802.465,0,-1058.82:1248:627:568:15664:19162 . 1/1:-2218.14,-296.049,0:1347:41:1208:31726:1147 . . 0/1:-862.907,0,-1374.49:1574:819:683:18633:25336 0/1:-698.373,0,-948.758:1160:585:518:14004:17828 0/1:-966.351,0,-1069.13:1359:642:642:17700:19881 . 0/1:-786.15,0,-1061.5:1355:677:612:16393:20559 . . 0/1:-1333.26,0,-1733.38:1631:832:748:21846:26482:832,748 0/1:-1400.8,0,-1792.76:1677:859:774:22513:27183:859,774 . . 1/1:-3742.73,-413.457,0:1615:21:1533:45322:660:21,1533 . . 0/1:-1194.44,0,-1524.24:1445:735:657:19422:23368:735,657 . 0/1:-1414.27,0,-1621.15:1640:800:780:22612:25234:800,780 . 0/1:-1173.15,0,-1446.72:1391:698:647:18947:21927:698,647 0/1:-1255.62,0,-1390.22:1390:686:671:19829:21605:686,671 0/1:-1481.72,0,-1512.81:1601:766:789:23279:24034:766,789 . . . 0/1:-1140.19,0,-1340.58:1305:647:613:18108:20558:647,613 0/1:-1302.07,0,-1646.09:1593:793:741:21486:25258:793,741 chr1 228520972 . CC CG 55535.10 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2126;CIGAR=1M1X;DP=2194;DPB=2209.5;DPRA=0;EPP=81.9473;EPPR=12.7417;GTI=0;LEN=1;MEANALT=9;MQM=38.8053;MQMR=29.1481;NS=1;NUMALT=1;ODDS=2749.05;PAIRED=0.958608;PAIREDR=0.925926;PAO=22.5;PQA=690;PQR=18;PRO=0.5;QA=65903;QR=707;RO=27;RPL=1022;RPP=9.87812;RPPR=3.09072;RPR=1104;RUN=1;SAF=1170;SAP=49.7858;SAR=956;SF=1;SRF=15;SRP=3.73412;SRR=12;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon58:c.15805delC:p.L5269fs,OBSCN:NM_052843:exon58:c.15805delC:p.L5269fs,OBSCN:NM_001271223:exon69:c.18676delC:p.L6226fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-5568.58,-602.169,0:2194:27:2126:65903:707:27,2126 . . . . . . . . . . . . . . chr1 228520973 . C G 17257.77 . AB=0.483847;ABP=6.09692;AC=72;AF=0.5;AN=118;AO=659;CIGAR=1X;DP=102401;DPB=1362;DPRA=0;EPP=34.0139;EPPR=12.3496;GTI=0;LEN=1;MEANALT=3;MQM=31.0106;MQMR=32.5944;NS=1;NUMALT=1;ODDS=2046.49;PAIRED=0.886191;PAIREDR=0.856932;PAO=0;PQA=0;PQR=0;PRO=0;QA=17755;QR=20626;RO=678;RPL=301;RPP=13.7161;RPPR=4.2914;RPR=358;RUN=1;SAF=352;SAP=9.68288;SAR=307;SF=0,1;SRF=361;SRP=9.21085;SRR=317;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.C15805G:p.L5269V,OBSCN:NM_052843:exon58:c.C15805G:p.L5269V,OBSCN:NM_001271223:exon69:c.C18676G:p.L6226V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3947;esp6500siv2_ea=0.4179;esp6500siv2_all=0.3947;esp6500siv2_ea=0.4179;1000g2015aug_all=0.335064;avsnp147=rs369909;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;ExAC_ALL=0.3938;ExAC_AFR=0.4039;ExAC_AMR=0.3805;ExAC_EAS=0.2645;ExAC_FIN=0.5105;ExAC_NFE=0.4651;ExAC_OTH=0.3388;ExAC_SAS=0.2627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.49;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_pred=P;MutationAssessor_score=0.385;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=1.995;CADD_phred=16.18;DANN_score=0.992;fathmm-MKL_coding_score=0.727;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.973;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.01;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=7.164;GDI_full_10282015=.;dpsi_max_tissue=0.1483;dpsi_zscore=0.612;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3597;gnomAD_exome_AFR=0.3557;gnomAD_exome_AMR=0.3367;gnomAD_exome_ASJ=0.3527;gnomAD_exome_EAS=0.1960;gnomAD_exome_FIN=0.4587;gnomAD_exome_NFE=0.4187;gnomAD_exome_OTH=0.3667;gnomAD_exome_SAS=0.2380;gnomAD_genome_ALL=0.4114;gnomAD_genome_AFR=0.3734;gnomAD_genome_AMR=0.3544;gnomAD_genome_ASJ=0.35;gnomAD_genome_EAS=0.2056;gnomAD_genome_FIN=0.4644;gnomAD_genome_NFE=0.4485;gnomAD_genome_OTH=0.4033;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-901.168,0,-1123:1362:678:659:17755:20626 . 1/1:-3103.6,-402.099,0:1568:38:1505:41744:893 0/1:-685.4,0,-860.372:987:505:467:13069:15109 0/1:-1137.7,0,-1488.58:1793:919:845:22764:27289 . . 0/1:-1315.85,0,-1651.77:1949:999:921:25420:29895 0/1:-1179.13,0,-1292.66:1589:784:785:22091:23325 1/1:-3274.85,-418.743,0:1735:52:1655:45568:1271 0/1:-1030.04,0,-1326.01:1533:773:739:20446:23463 0/1:-1070.28,0,-1372.55:1611:792:787:21272:24078 0/1:-1345.91,0,-1148.58:1605:712:869:23866:21655 1/1:-2520.08,-353.485,0:1348:33:1295:35522:654 . . 1/1:-2518.13,-336.012,0:1323:34:1267:34681:756 . 0/1:-982.141,0,-1437.93:1519:809:690:19128:24375 . 1/1:-2663.26,-349.505,0:1349:29:1295:35960:699 . . . . 0/1:-825.949,0,-1080.86:1308:670:612:16602:19875 . . . 1/1:-2831.5,-377.017,0:1431:34:1377:37692:697 0/1:-998.614,0,-970.036:1321:616:681:18688:18214 . . 0/1:-1191.1,0,-1454.08:1780:893:858:23339:26253 0/1:-1222.42,0,-1303.95:1650:793:831:22973:23851 1/1:-3557.21,-475.647,0:1818:36:1756:48353:853 0/1:-1570.61,0,-1793.89:2225:1098:1088:29673:32862 0/1:-994.379,0,-1373.68:1485:782:676:18875:23513 . . 0/1:-1422.73,0,-1676.39:1976:980:962:26057:29669 . . . 0/1:-1344.33,0,-1584.35:1905:936:937:25745:28312 . 1/1:-3194.06,-446.039,0:1672:32:1616:43564:609 . . . 0/1:-1388.94,0,-1597.64:1946:971:945:25669:28955 0/1:-1065.95,0,-1265.74:1631:789:807:21798:23844 . 1/1:-4002.89,-501.989,0:2091:61:1991:54842:1560 1/1:-2451.04,-343.388,0:1296:28:1246:33984:583 . . . 0/1:-843.739,0,-905.306:1149:542:588:15939:16246 0/1:-1250.42,0,-1529.18:1868:938:894:24549:27657 . 0/1:-1507.14,0,-1820.06:2150:1072:1043:28837:32385 0/1:-1129.21,0,-1320.56:1538:753:759:20711:22854 . 0/1:-1320.04,0,-1706.94:1944:1000:908:24878:30496 1/1:-3560.79,-462.483,0:1796:47:1724:48240:1022 . 0/1:-1239.92,0,-1345.05:1660:803:827:22992:24265 . . 0/1:-1226.95,0,-1361.28:1721:819:874:23510:25238 . 0/1:-1311.63,0,-1709.76:1946:977:939:25794:29551 . . 0/1:-1502.89,0,-1784.08:2234:1099:1097:29596:32848 0/1:-1356.13,0,-1490.9:1873:913:930:24957:27385 0/1:-1576.99,0,-1507.58:2010:917:1061:28958:27497 0/1:-790.337,0,-918.261:1102:532:551:15191:16327 1/1:-1975.84,-258.988,0:1027:26:989:27319:614 . . . . 0/1:-985.795,0,-1295.75:1553:799:735:20069:23716 0/1:-1224,0,-1334.68:1705:828:849:22801:24936 . 1/1:-3550.99,-462.469,0:1856:50:1776:49138:1204 . . 0/1:-1559.88,0,-2025.63:2280:1186:1067:30032:35825 0/1:-1149.95,0,-1221.81:1582:772:779:21445:22788 0/1:-1423.45,0,-1522.15:1866:904:929:25710:27104 . 0/1:-1414.23,0,-1359.44:1886:878:979:26549:26265 . . 0/1:-2132.42,0,-2132.93:2150:1049:1073:33127:32858:1049,1073 0/1:-2396.37,0,-2356.11:2353:1131:1192:36711:35926:1131,1192 . . . . . 0/1:-1868.93,0,-2137.14:2017:1036:954:29595:32584:1036,954 . 0/1:-2153.92,0,-2342.29:2220:1105:1086:33316:35201:1105,1086 . 0/1:-1892.12,0,-1943.74:1921:931:966:29555:29723:931,966 0/1:-1807.18,0,-1798.65:1826:887:908:28016:27829:887,908 0/1:-2234.87,0,-2493.51:2371:1203:1133:34798:37984:1203,1133 . . . 0/1:-1897.5,0,-1872.95:1843:896:925:28787:28267:896,925 0/1:-2027.91,0,-2223.17:2148:1084:1036:31653:33803:1084,1036 chr1 228522483 . C T 7500.87 . AB=0.392466;ABP=149.653;AC=8;AF=0.5;AN=16;AO=573;CIGAR=1X;DP=10091;DPB=1460;DPRA=0;EPP=58.4946;EPPR=4.35085;GTI=0;LEN=1;MEANALT=3;MQM=32.6719;MQMR=32.8151;NS=1;NUMALT=1;ODDS=1720.39;PAIRED=0.95986;PAIREDR=0.917092;PAO=0;PQA=0;PQR=0;PRO=0;QA=15510;QR=22498;RO=784;RPL=225;RPP=60.344;RPPR=21.634;RPR=348;RUN=1;SAF=374;SAP=119.068;SAR=199;SF=0;SRF=524;SRP=196.05;SRR=260;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0352;esp6500siv2_ea=0.0328;esp6500siv2_all=0.0352;esp6500siv2_ea=0.0328;1000g2015aug_all=0.034345;avsnp147=rs11581192;Kaviar_AF=0.0188807;Kaviar_AC=2919;Kaviar_AN=154602;ExAC_ALL=0.0430;ExAC_AFR=0.0434;ExAC_AMR=0.0439;ExAC_EAS=0.0572;ExAC_FIN=0.1579;ExAC_NFE=0.0484;ExAC_OTH=0.0345;ExAC_SAS=0.0344;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4549;dpsi_zscore=1.085;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0370;gnomAD_exome_AFR=0.0445;gnomAD_exome_AMR=0.0178;gnomAD_exome_ASJ=0.0602;gnomAD_exome_EAS=0.0456;gnomAD_exome_FIN=0.0523;gnomAD_exome_NFE=0.0369;gnomAD_exome_OTH=0.0398;gnomAD_exome_SAS=0.0325;gnomAD_genome_ALL=0.0423;gnomAD_genome_AFR=0.0482;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.0395;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0369;gnomAD_genome_OTH=0.0419;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-785.523,0,-1304.94:1460:784:573:15510:22498 . . . 0/1:-1087.23,0,-1194.84:1610:749:737:20161:21460 . . . . 0/1:-675.89,0,-819.171:1056:511:474:13018:14764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-577.352,0,-667.467:925:451:410:10988:12544 . . . . 0/1:-783.198,0,-989.283:1310:633:586:15383:17767 . . . . . . . . 0/1:-864.569,0,-1110.7:1425:708:624:16659:19808 0/1:-584.595,0,-610.757:876:409:410:11072:11592 . 0/1:-894.912,0,-1132.57:1429:716:617:16764:20509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228522776 . C A 6757.62 . AB=0.454756;ABP=25.9997;AC=2;AF=0.5;AN=4;AO=588;CIGAR=1X;DP=2233;DPB=1293;DPRA=0;EPP=39.9401;EPPR=98.8463;GTI=0;LEN=1;MEANALT=3;MQM=32.7755;MQMR=33.6764;NS=1;NUMALT=1;ODDS=1753.26;PAIRED=0.913265;PAIREDR=0.924198;PAO=0;PQA=0;PQR=0;PRO=0;QA=15579;QR=20003;RO=686;RPL=268;RPP=12.9961;RPPR=12.937;RPR=320;RUN=1;SAF=184;SAP=181.751;SAR=404;SF=0;SRF=259;SRP=92.3509;SRR=427;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0240;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0240;esp6500siv2_ea=0.0017;1000g2015aug_all=0.0357428;avsnp147=rs115555077;Kaviar_AF=0.0062806;Kaviar_AC=971;Kaviar_AN=154602;ExAC_ALL=0.0164;ExAC_AFR=0.1369;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0040;ExAC_OTH=0;ExAC_SAS=0.0061;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.0365;dpsi_zscore=-1.913;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0087;gnomAD_exome_AFR=0.1065;gnomAD_exome_AMR=0.0067;gnomAD_exome_ASJ=0.0072;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0054;gnomAD_genome_ALL=0.0301;gnomAD_genome_AFR=0.1033;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-794.156,0,-1137.93:1293:686:588:15579:20003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-604.965,0,-831.513:940:493:434:11445:14431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228523005 . TGGGGGT TGGGGGGT,TGGGGGG 339.73 . AB=0;ABP=0;AC=41,2;AF=1;AN=46;AO=25;CIGAR=1M1I6M;DP=1613;DPB=71.2857;DPRA=0;EPP=13.5202;EPPR=0;GTI=0;LEN=1;MEANALT=17;MQM=28.36;MQMR=0;NS=1;NUMALT=1;ODDS=60.0569;PAIRED=0.76;PAIREDR=0;PAO=7.5;PQA=202.5;PQR=202.5;PRO=7.5;QA=521;QR=0;RO=0;RPL=25;RPP=57.2971;RPPR=0;RPR=0;RUN=1;SAF=7;SAP=13.5202;SAR=18;SF=0;SRF=0;SRP=0;SRR=0;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4163;esp6500siv2_ea=0.4253;esp6500siv2_all=0.4163;esp6500siv2_ea=0.4253;1000g2015aug_all=0.469449;avsnp147=rs397947123;Kaviar_AF=0.0016947;Kaviar_AC=262;Kaviar_AN=154602;ExAC_ALL=0.3977;ExAC_AFR=0.4286;ExAC_AMR=0.375;ExAC_EAS=0.5312;ExAC_FIN=.;ExAC_NFE=0.4474;ExAC_OTH=0.3333;ExAC_SAS=0.3757;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6151;gnomAD_exome_AFR=0.6577;gnomAD_exome_AMR=0.6300;gnomAD_exome_ASJ=0.4958;gnomAD_exome_EAS=0.7117;gnomAD_exome_FIN=0.6944;gnomAD_exome_NFE=0.6301;gnomAD_exome_OTH=0.6296;gnomAD_exome_SAS=0.5068;gnomAD_genome_ALL=0.6489;gnomAD_genome_AFR=0.6170;gnomAD_genome_AMR=0.5441;gnomAD_genome_ASJ=0.5886;gnomAD_genome_EAS=0.6509;gnomAD_genome_FIN=0.6997;gnomAD_genome_NFE=0.6579;gnomAD_genome_OTH=0.6464;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1022;esp6500siv2_ea=0.1070;esp6500siv2_all=0.1022;esp6500siv2_ea=0.1070;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . 1/1:-44.41,-16.5566,0,.,.,.:58:0:25,.:521,.:0 . . . . . . 1/1:-52.8312,-16.5566,0,.,.,.:67:0:27,.:618,.:0 . . . 1/1:-50.6199,-13.8474,0,.,.,.:64:0:26,.:600,.:0 . . 1/1:-15.9625,-11.7327,0,.,.,.:41:2:13,.:228,.:42 . . . 1/1:-34.2438,-15.6536,0,.,.,.:52:0:19,.:414,.:0 . . . . . . 1/1:-51.1604,-18.5857,0,.,.,.:64:2:31,.:615,.:55 . 1/1:-53.6109,-14.1484,0,.,.,.:64:0:29,.:639,.:0 1/1:-38.4495,-16.1895,0,.,.,.:64:1:27,.:482,.:16 . . 1/1:-93.4849,-28.5978,0,.,.,.:100:0:55,.:1127,.:0 0/1:-13.6653,0,-22.9407,.,.,.:70:18:20,.:368,.:523 1/1:-38.9305,-18.0618,0,.,.,.:68:0:20,.:453,.:0 . . . 1/1:-27.6185,-3.67766,0,.,.,.:44:5:18,.:473,.:147 . . . . . . 1/1:-54.5711,-15.6159,0,.,.,.:74:1:31,.:674,.:24 . . . 1/1:-83.4162,-28.8989,0,.,.,.:102:0:48,.:1008,.:0 1/1:-40.5861,-13.591,0,.,.,.:64:1:27,.:509,.:17 . 1/1:-78.0906,-22.7776,0,.,.,.:115:1:47,.:933,.:21 1/1:-20.2163,-19.2659,0,.,.,.:36:0:13,.:241,.:0 . . . . 1/1:-55.1377,-12.1251,0,.,.,.:69:2:40,.:722,.:64 . . . . 0/1:-18.4877,0,-30.7606,.,.,.:91:25:26,.:530,.:805 1/1:-56.5343,-18.3259,0,.,.,.:78:1:37,.:721,.:31 . . . . . . . . . . . . . 2/2:-41.2622,.,.,-16.2556,.,0:45:0:.,24:.,570:0 . . . . 0/1:-21.1659,0,-20.1964,.,.,.:83:20:24,.:555,.:621 . . 1/1:-99.9182,-27.2821,0,.,.,.:100:1:54,.:1202,.:27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228523011 . T G 74.68 . AB=0.458333;ABP=3.73412;AC=8;AF=0.5;AN=16;AO=22;CIGAR=1X;DP=535;DPB=48;DPRA=0;EPP=3.0103;EPPR=7.26639;GTI=0;LEN=1;MEANALT=2;MQM=26.3636;MQMR=24.24;NS=1;NUMALT=1;ODDS=30.782;PAIRED=0.545455;PAIREDR=0.72;PAO=0;PQA=0;PQR=0;PRO=0;QA=524;QR=645;RO=25;RPL=22;RPP=50.7827;RPPR=48.9587;RPR=0;RUN=1;SAF=11;SAP=3.0103;SAR=11;SF=0;SRF=10;SRP=5.18177;SRR=15;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs12401460;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4147;dpsi_zscore=1.039;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0152;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0833;gnomAD_exome_NFE=0.0333;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0143;gnomAD_genome_ALL=0.0020;gnomAD_genome_AFR=0.0085;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-24.5167,0,-24.9163:48:25:22:524:645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-19.8469,0,-58.3732:82:53:28:665:1295 . . 0/1:-18.9508,0,-30.8628:47:26:21:470:623 . . . . . . . . . . 0/1:-16.5667,0,-50.4835:45:30:15:397:812 . . 0/1:-32.8051,0,-66.8711:103:62:41:894:1525 . . . . . 0/1:-17.0533,0,-54.9351:70:44:22:523:1087 . . . . . . 0/1:-15.3683,0,-59.5356:59:40:18:424:1021 . 0/1:-22.9432,0,-65.1275:81:49:29:694:1224 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228523447 . TG CA,CG 12382.80 . AB=0.440994,0.479814;ABP=22.4861,5.28967;AC=75,49;AF=0.5,0.5;AN=140;AO=284,309;CIGAR=2X,1X1M;DP=62351;DPB=644.5;DPRA=0,0;EPP=4.50892,17.2408;EPPR=5.18177;GTI=0;LEN=2,1;MEANALT=12,12;MQM=29.8275,33.4822;MQMR=40;NS=1;NUMALT=2;ODDS=710.777;PAIRED=0.93662,0.928803;PAIREDR=1;PAO=0,0.5;PQA=0,0;PQR=0;PRO=0.5;QA=6887,7564;QR=14;RO=1;RPL=100,132;RPP=56.9607,17.2408;RPPR=5.18177;RPR=184,177;RUN=1,1;SAF=185,188;SAP=59.5603,34.5564;SAR=99,121;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=mnp,snp;technology.ILLUMINA=1,1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386640018;Kaviar_AF=0.0150063;Kaviar_AC=2320;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.8711;esp6500siv2_ea=0.8251;esp6500siv2_all=0.8711;esp6500siv2_ea=0.8251;1000g2015aug_all=0.813498;avsnp147=rs10799473;Kaviar_AF=0.0071797;Kaviar_AC=1110;Kaviar_AN=154602;ExAC_ALL=0.8090;ExAC_AFR=0.9688;ExAC_AMR=0.7785;ExAC_EAS=0.7680;ExAC_FIN=0.8227;ExAC_NFE=0.8273;ExAC_OTH=0.8009;ExAC_SAS=0.6778;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1381;dpsi_zscore=-0.553;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8073;gnomAD_exome_AFR=0.9692;gnomAD_exome_AMR=0.7897;gnomAD_exome_ASJ=0.8472;gnomAD_exome_EAS=0.7684;gnomAD_exome_FIN=0.8195;gnomAD_exome_NFE=0.8253;gnomAD_exome_OTH=0.8174;gnomAD_exome_SAS=0.6795;gnomAD_genome_ALL=0.8644;gnomAD_genome_AFR=0.9650;gnomAD_genome_AMR=0.8098;gnomAD_genome_ASJ=0.8411;gnomAD_genome_EAS=0.7664;gnomAD_genome_FIN=0.8368;gnomAD_genome_NFE=0.8306;gnomAD_genome_OTH=0.7986;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/2:-971.011,-551.367,-465.628,-419.669,0,-327.006:644:1:284,309:6887,7564:14 . 1/1:-1265.11,-201.875,0,.,.,.:759:1:679,.:16715,.:32 0/1:-241.119,0,-471.205,.,.,.:542:267:226,.:5173,.:7646 1/2:-1297.51,-766.98,-654.907,-530.987,0,-401.454:863:3:359,432:8534,10558:63 . . 1/2:-1543.9,-944.996,-823.04,-600.531,0,-442.753:996:1:397,520:9442,12882:17 1/2:-1266.58,-724.398,-624.439,-534.74,0,-415.515:853:7:352,428:8813,10219:180 1/1:-1490.89,-239.874,0,.,.,.:943:6:834,.:20066,.:175 1/2:-970.606,-503.345,-428.972,-451.685,0,-380.323:661:8:303,297:7311,7165:242 1/2:-1347.12,-699.517,-572.311,-647.542,0,-532.077:860:4:417,388:10116,9618:88 1/2:-1110.43,-639.766,-550.837,-466.948,0,-369.29:711:4:310,341:7215,8726:94 1/1:-1059.3,-173.389,0,.,.,.:652:1:581,.:13999,.:27 . . 1/1:-922.22,-147.366,0,.,.,.:596:6:527,.:12447,.:184 . 1/2:-1200.73,-729.49,-643.135,-470.67,0,-352.104:740:4:288,400:7245,9899:94 . 1/1:-936.865,-151.418,0,.,.,.:555:0:501,.:12169,.:0 . . . . 1/2:-888.87,-462.777,-360.524,-430.273,0,-340.664:646:1:312,285:7474,6507:20 . . . 1/1:-1234.59,-184.537,0,.,.,.:701:3:639,.:15904,.:99 1/2:-911.268,-494.157,-405.259,-418.775,0,-328.07:625:1:281,297:6656,6953:31 . . 1/2:-1281.23,-686.848,-563.595,-589.164,0,-465.308:926:7:424,436:9758,9864:152 0/1:-417.244,0,-576.349,.,.,.:762:346:334,.:8334,.:9869 1/1:-1515.8,-242.201,0,.,.,.:919:3:817,.:19777,.:72 0/1:-660.442,0,-931.609,.,.,.:1189:540:516,.:12778,.:15597 1/2:-1098.38,-641.854,-554.352,-457.116,0,-350.047:692:1:288,355:7314,8724:20 . . 1/2:-1490.16,-847.597,-721.049,-641.545,0,-505.063:961:3:419,460:9930,11569:57 . . . 1/2:-1453.83,-811.391,-699.004,-633.589,0,-507.656:936:6:407,454:10008,11206:161 . 1/1:-1301.51,-209.429,0,.,.,.:820:6:728,.:17572,.:162 . . . 1/2:-1432.86,-731.924,-612.523,-685.231,0,-571.249:963:11:452,442:10818,10550:296 1/1:-1112.19,-195.109,0,.,.,.:725:2:648,.:15231,.:43 . 1/1:-1576.82,-259.228,0,.,.,.:971:1:865,.:20818,.:23 1/1:-974.015,-166.625,0,.,.,.:630:1:563,.:13129,.:36 . . . 0/1:-327.358,0,-418.985,.,.,.:575:261:254,.:6218,.:7591 1/2:-1431.08,-789.9,-667.736,-634.572,0,-506.087:946:4:428,453:10334,11052:117 . 1/2:-1593.94,-932.55,-813.566,-651.91,0,-501.319:1036:6:425,538:10421,13009:170 1/2:-1197.63,-695.264,-593.176,-504.591,0,-386.247:775:1:325,387:7878,9504:17 . 1/2:-1585.33,-922.99,-802.541,-657.335,0,-509.794:997:7:420,514:10301,12663:178 1/1:-1389.79,-220.79,0,.,.,.:836:3:747,.:18399,.:97 . 0/1:-421.675,0,-617.858,.,.,.:774:358:339,.:8334,.:10251 . . 1/2:-1183.46,-636.048,-527.609,-544.541,0,-434.296:795:3:355,379:8672,8914:103 . 1/2:-1481.2,-836.43,-711.69,-639.225,0,-498.23:1016:7:438,494:10316,11708:163 . . 0/1:-552.15,0,-889.845,.,.,.:1109:520:458,.:10916,.:14893 1/2:-1541.9,-969.895,-856.724,-566.343,0,-415.544:979:5:388,525:9031,13293:140 1/2:-1529.78,-936.918,-824.008,-586.931,0,-443.918:969:5:386,500:9369,12807:159 1/2:-866.902,-486.793,-422.067,-371.145,0,-295.883:584:6:245,286:6128,6878:188 1/1:-625.187,-93.2434,0,.,.,.:400:7:350,.:8627,.:188 . . . . 1/2:-1114.48,-610.53,-506.209,-502.983,0,-398.061:773:1:351,353:8149,8411:20 1/2:-1335.24,-776.657,-664.674,-560.46,0,-427.404:873:0:359,436:8777,10647:0 . 1/1:-1289.59,-216.831,0,.,.,.:820:5:735,.:17723,.:132 . . 1/2:-1557.37,-842.923,-703.875,-712.383,0,-563.401:1044:2:466,504:11340,11737:57 1/2:-1344.19,-725.421,-607.706,-617.96,0,-498.74:851:2:384,401:9393,9898:66 1/2:-1540.48,-853.454,-728.353,-684.255,0,-544.103:966:2:419,477:10439,11798:59 . 1/2:-1435.98,-777.623,-640.955,-662.644,0,-524.17:938:0:425,446:10354,10668:0 . 2/2:.,.,.,.,.,0:1240:1:.,1223:.,36812:14:1,1223 0/1:-898.763,0,-1192.82,.,.,.:1081:560:469,.:14299,.:17207:560,469 0/1:-1220.83,0,-1277.32,.,.,.:1325:636:628,.:19004,.:19311:636,628 2/2:.,.,.,.,.,0:697:5:.,677:.,20379:117:5,677 2/2:.,.,.,.,.,0:1085:8:.,1056:.,31696:235:8,1056 1/1:-2754.56,-317.874,0,.,.,.:1137:3:1073,.:32590,.:86:3,1073 0/2:.,.,.,.,.,-763.043:949:413:.,511:.,15609:12084:413,511 0/2:.,.,.,.,.,-1034.15:1203:559:.,604:.,18353:16234:559,604 1/2:-2357.07,-1207.64,-1062.48,-1144.47,0,-991.482:1065:2:501,527:15397,15737:72:2,501,527 0/2:.,.,.,.,.,-1026.35:1106:540:.,534:.,15798:15657:540,534 0/1:-1077.44,0,-1094.98,.,.,.:1138:539:542,.:16470,.:16255:539,542 2/2:.,.,.,.,.,0:850:3:.,833:.,25832:86:3,833 1/2:-2145.71,-1061.42,-928.249,-1075.46,0,-941.987:994:5:477,478:14538,13986:164:5,477,478 0/1:-964.636,0,-991.581,.,.,.:1024:493:489,.:14901,.:14915:493,489 0/1:-1020.38,0,-1218.1,.,.,.:1217:596:542,.:16228,.:18029:596,542 2/2:.,.,.,.,.,0:1120:3:.,1096:.,32944:64:3,1096 0/2:.,.,.,.,.,-1153.18:1198:585:.,570:.,17401:17368:585,570 0/2:.,.,.,.,.,-900.731:955:477:.,452:.,13908:13612:477,452 1/2:-1939.33,-954.208,-832.447,-979.659,0,-861.209:883:5:427,417:13153,12469:148:5,427,417 1/2:-2618.62,-1413.3,-1255.02,-1204.46,0,-1018.48:1187:2:526,623:16022,18477:43:2,526,623 chr1 228523476 . C T 6179.95 . AB=0.409762;ABP=65.3224;AC=1;AF=0.5;AN=2;AO=361;CIGAR=1X;DP=881;DPB=881;DPRA=0;EPP=46.4698;EPPR=144.713;GTI=0;LEN=1;MEANALT=3;MQM=38.2881;MQMR=40.0794;NS=1;NUMALT=1;ODDS=1422.99;PAIRED=0.966759;PAIREDR=0.96945;PAO=0;PQA=0;PQR=0;PRO=0;QA=10701;QR=15587;RO=491;RPL=142;RPP=38.6742;RPPR=29.2316;RPR=219;RUN=1;SAF=200;SAP=12.1594;SAR=161;SF=1;SRF=237;SRP=4.28842;SRR=254;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1502;dpsi_zscore=0.617;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.953e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-638.882,0,-1082.91:881:491:361:10701:15587:491,361 . . . . . . . . . . . . . . . . chr1 228523602 . C T 3135.07 . AB=0.41774;ABP=44.0943;AC=2;AF=0.5;AN=4;AO=292;CIGAR=1X;DP=1185;DPB=699;DPRA=0;EPP=77.3758;EPPR=111.266;GTI=0;LEN=1;MEANALT=3;MQM=32.5034;MQMR=33.9005;NS=1;NUMALT=1;ODDS=736.55;PAIRED=0.928082;PAIREDR=0.913613;PAO=0;PQA=0;PQR=0;PRO=0;QA=7866;QR=12309;RO=382;RPL=250;RPP=324.745;RPPR=487.692;RPR=42;RUN=1;SAF=64;SAP=203.024;SAR=228;SF=0;SRF=93;SRP=221.385;SRR=289;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0419;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0419;esp6500siv2_ea=0.0023;1000g2015aug_all=0.0447284;avsnp147=rs7550865;Kaviar_AF=0.0137967;Kaviar_AC=2133;Kaviar_AN=154602;ExAC_ALL=0.0143;ExAC_AFR=0.1426;ExAC_AMR=0.0095;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0019;ExAC_OTH=0.0056;ExAC_SAS=0.0055;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1221;dpsi_zscore=-0.512;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0123;gnomAD_exome_AFR=0.1400;gnomAD_exome_AMR=0.0107;gnomAD_exome_ASJ=0.0065;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0060;gnomAD_genome_ALL=0.0403;gnomAD_genome_AFR=0.1380;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-394.21,0,-735.279:699:382:292:7866:12309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-370.633,0,-427.169:486:235:232:6939:7720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228523618 . G A 4097.00 . AB=0.492013;ABP=3.18374;AC=101;AF=0.5;AN=156;AO=154;CIGAR=1X;DP=33377;DPB=313;DPRA=0;EPP=97.8219;EPPR=64.5839;GTI=0;LEN=1;MEANALT=3;MQM=29.3247;MQMR=32.2617;NS=1;NUMALT=1;ODDS=450.363;PAIRED=0.954545;PAIREDR=0.892617;PAO=0;PQA=0;PQR=0;PRO=0;QA=4833;QR=4846;RO=149;RPL=121;RPP=112.204;RPPR=189.101;RPR=33;RUN=1;SAF=31;SAP=122.357;SAR=123;SF=0,1;SRF=36;SRP=89.4174;SRR=113;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.5028;esp6500siv2_ea=0.5195;esp6500siv2_all=0.5028;esp6500siv2_ea=0.5195;1000g2015aug_all=0.474241;avsnp147=rs1757160;Kaviar_AF=0.0982976;Kaviar_AC=15197;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7911;dpsi_zscore=-1.337;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5195;gnomAD_genome_AFR=0.4515;gnomAD_genome_AMR=0.3981;gnomAD_genome_ASJ=0.4367;gnomAD_genome_EAS=0.5292;gnomAD_genome_FIN=0.6168;gnomAD_genome_NFE=0.5431;gnomAD_genome_OTH=0.5307;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-235.942,0,-261.616:313:149:154:4833:4846 . 1/1:-714.469,-93.6831,0:366:8:344:10151:183 0/1:-157.522,0,-219.535:247:116:116:3126:3711 0/1:-226.786,0,-375.668:392:211:165:4929:6839 . . 0/1:-252.366,0,-473.234:491:268:205:5979:8502 0/1:-302.727,0,-302.097:399:184:200:6098:5830 1/1:-759.828,-102.007,0:400:10:370:10980:255 0/1:-190.499,0,-330.502:350:185:146:4235:5818 0/1:-280.639,0,-332.742:384:188:189:5753:6050 0/1:-245.04,0,-396.332:394:216:167:5155:6842 1/1:-581.458,-78.4885,0:330:9:294:8411:192 . 0/1:-430.361,0,-475.546:606:293:283:8388:9298 1/1:-506.556,-64.1175,0:285:16:260:7427:325 . 0/1:-311.105,0,-338.629:396:191:189:5851:6094 . 1/1:-622.24,-83.4941,0:349:11:313:9405:240 0/1:-290.115,0,-343.665:389:193:179:5444:6128 . 0/1:-328.069,0,-463.876:496:257:219:6685:8197 . 0/1:-208.253,0,-210.825:299:131:159:4598:4104 . 1/1:-657.047,-82.1287,0:353:13:322:9573:309 0/1:-212.057,0,-279.412:331:165:153:4523:5329 1/1:-669.726,-87.7592,0:349:10:322:9587:202 1/1:-574.031,-71.6919,0:306:11:280:8410:255 . 0/1:-257.035,0,-396.956:414:218:178:5330:6766 1/1:-1144.45,-154.317,0:624:15:569:17009:361 0/1:-231.372,0,-333.812:357:180:162:4872:5872 1/1:-993.053,-127.126,0:509:9:472:14060:232 0/1:-531.838,0,-677.72:783:399:357:10953:12365 0/1:-175.191,0,-275.363:295:149:132:3562:4738 . 0/1:-273.929,0,-282.553:373:178:181:5208:5539 0/1:-295.351,0,-398.003:453:232:197:5872:7146 . . . 0/1:-255.533,0,-401.759:414:224:174:5272:7140 . 1/1:-832.585,-108.612,0:458:13:415:12241:305 0/1:-188.38,0,-245.246:276:140:128:3755:4443 . . 1/1:-1040.88,-139.026,0:528:7:487:14755:133 1/1:-759.077,-102.709,0:412:8:378:11287:196 . 1/1:-1014.87,-125.145,0:536:17:495:14866:371 1/1:-502.546,-68.9903,0:298:11:265:8091:201 0/1:-195.371,0,-284.168:300:161:131:4036:5090 0/1:-293.897,0,-459.671:464:251:197:6026:8140 . 0/1:-220.827,0,-293.456:329:167:144:4289:5279 1/1:-1110.67,-145.791,0:583:12:547:16150:325 . 0/1:-402.782,0,-501.465:589:298:268:8054:9536 0/1:-333.397,0,-361.911:447:218:219:6394:7103 . 0/1:-290.844,0,-359.007:434:205:203:5906:6567 1/1:-914.924,-125.102,0:480:8:447:13262:200 0/1:-146.683,0,-215.919:241:126:106:3136:3860 0/1:-235.529,0,-393.282:405:217:165:5022:6838 . . 0/1:-292.254,0,-365.905:449:222:207:6111:7048 0/1:-360.008,0,-554.831:550:298:238:7384:9283 0/1:-311.227,0,-364.776:434:210:205:6077:6448 . 0/1:-196.668,0,-351.999:332:191:135:4077:6104 0/1:-435.91,0,-557.582:642:325:293:8681:10166 0/1:-368.076,0,-484.069:548:275:252:7628:8835 0/1:-267.614,0,-331.565:413:195:198:5831:6153 0/1:-212.698,0,-234.123:299:148:137:4201:4615 1/1:-418.243,-45.9303,0:238:11:215:6486:264 . . . . 0/1:-286.473,0,-315.479:406:190:199:6005:6060 0/1:-300.387,0,-413.797:458:235:209:6245:7491 0/1:-184.708,0,-348.933:330:181:136:3979:5746 1/1:-895.787,-108.087,0:502:22:458:13719:533 . . 0/1:-324.823,0,-434.168:498:253:218:6353:7982 0/1:-364.492,0,-423.095:484:232:233:7080:7526 0/1:-295.379,0,-416.545:466:236:207:5970:7647 0/1:-338.047,0,-314.158:433:194:215:6479:6137 0/1:-328.648,0,-378.911:478:229:225:6800:7353 . . 0/1:-507.348,0,-471.601:470:220:240:7763:7209:220,240 0/1:-447.321,0,-545.808:480:248:224:7097:8113:248,224 . . 1/1:-1333.8,-126.971,0:518:9:500:16200:298:9,500 0/1:-467.762,0,-418.522:429:204:219:7033:6572:204,219 . 0/1:-438.013,0,-567.442:469:254:210:6907:8322:254,210 . 0/1:-582.321,0,-549.652:551:254:285:9046:8443:254,285 0/1:-344.179,0,-483.539:386:215:169:5517:7088:215,169 1/1:-1336.51,-137.698,0:516:6:502:16172:203:6,502 0/1:-432.254,0,-502.87:446:230:206:6702:7498:230,206 0/1:-459.788,0,-554.547:484:251:226:7273:8176:251,226 . 0/1:-587.431,0,-537.07:529:250:271:8783:8095:250,271 . 1/1:-1092.8,-116.391,0:432:5:421:13367:150:5,421 1/1:-1198.15,-105.529,0:480:13:460:14651:420:13,460 chr1 228523866 . C G 6453.43 . AB=0.493333;ABP=3.27088;AC=1;AF=0.5;AN=2;AO=333;CIGAR=1X;DP=675;DPB=675;DPRA=0;EPP=3.06899;EPPR=3.81381;GTI=0;LEN=1;MEANALT=3;MQM=38.1081;MQMR=38.7034;NS=1;NUMALT=1;ODDS=1485.96;PAIRED=0.945946;PAIREDR=0.969419;PAO=0;PQA=0;PQR=0;PRO=0;QA=10318;QR=10483;RO=327;RPL=98;RPP=125.402;RPPR=68.0947;RPR=235;RUN=1;SAF=168;SAP=3.06899;SAR=165;SF=1;SRF=182;SRP=12.1013;SRR=145;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0031;1000g2015aug_all=0.00119808;avsnp147=rs143580296;Kaviar_AF=0.002859;Kaviar_AC=442;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0001;ExAC_AMR=0.0023;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0047;ExAC_OTH=0.0033;ExAC_SAS=0.0016;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8769;dpsi_zscore=-2.125;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0189;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0064;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-665.523,0,-677.263:675:327:333:10318:10483:327,333 . . chr1 228524756 . T C 5954.53 . AB=0.540066;ABP=15.7126;AC=3;AF=0.5;AN=6;AO=492;CIGAR=1X;DP=2238;DPB=911;DPRA=0;EPP=193.959;EPPR=106.544;GTI=0;LEN=1;MEANALT=3;MQM=34.4187;MQMR=34.5094;NS=1;NUMALT=1;ODDS=1123.81;PAIRED=0.961382;PAIREDR=0.948787;PAO=0;PQA=0;PQR=0;PRO=0;QA=14111;QR=9868;RO=371;RPL=280;RPP=23.4186;RPPR=30.8766;RPR=212;RUN=1;SAF=280;SAP=23.4186;SAR=212;SF=0;SRF=213;SRP=20.7157;SRR=158;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon65:c.T16589C:p.V5530A,OBSCN:NM_052843:exon65:c.T16589C:p.V5530A,OBSCN:NM_001271223:exon76:c.T19460C:p.V6487A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;1000g2015aug_all=0.000399361;avsnp147=rs200706907;Kaviar_AF=0.0018305;Kaviar_AC=283;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0006;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0023;ExAC_SAS=0.0078;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_pred=T;PROVEAN_score=-2.51;PROVEAN_pred=D;VEST3_score=0.524;CADD_raw=5.525;CADD_phred=26.3;DANN_score=0.995;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.322;MetaSVM_pred=T;MetaLR_score=0.448;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.88;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=14.659;GDI_full_10282015=.;dpsi_max_tissue=5.1030;dpsi_zscore=2.606;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0084;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-858.309,0,-514.596:911:371:492:14111:9868 . . . . . . 0/1:-485.918,0,-420.303:622:282:305:8574:7601 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-526.12,0,-488.514:705:339:333:9457:8809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228524961 . C A 18030.15 . AB=0.459402;ABP=23.1103;AC=74;AF=0.5;AN=120;AO=645;CIGAR=1X;DP=109538;DPB=1404;DPRA=0;EPP=11.7669;EPPR=57.5966;GTI=0;LEN=1;MEANALT=3;MQM=31.5736;MQMR=34.3241;NS=1;NUMALT=1;ODDS=2195.03;PAIRED=0.908527;PAIREDR=0.910345;PAO=0;PQA=0;PQR=0;PRO=0;QA=18610;QR=20451;RO=725;RPL=349;RPP=12.4671;RPPR=3.37271;RPR=296;RUN=1;SAF=390;SAP=64.367;SAR=255;SF=0,1;SRF=404;SRP=23.6438;SRR=321;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.C16677A:p.P5559P,OBSCN:NM_052843:exon66:c.C16677A:p.P5559P,OBSCN:NM_001271223:exon77:c.C19548A:p.P6516P;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3155;esp6500siv2_ea=0.4226;esp6500siv2_all=0.3155;esp6500siv2_ea=0.4226;1000g2015aug_all=0.239816;avsnp147=rs3795808;Kaviar_AF=0.346296;Kaviar_AC=53538;Kaviar_AN=154602;ExAC_ALL=0.3570;ExAC_AFR=0.0981;ExAC_AMR=0.3123;ExAC_EAS=0.2149;ExAC_FIN=0.4710;ExAC_NFE=0.4306;ExAC_OTH=0.3486;ExAC_SAS=0.2670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2025;dpsi_zscore=-0.692;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3534;gnomAD_exome_AFR=0.0903;gnomAD_exome_AMR=0.3173;gnomAD_exome_ASJ=0.3429;gnomAD_exome_EAS=0.2037;gnomAD_exome_FIN=0.4626;gnomAD_exome_NFE=0.4274;gnomAD_exome_OTH=0.3712;gnomAD_exome_SAS=0.2623;gnomAD_genome_ALL=0.3343;gnomAD_genome_AFR=0.1040;gnomAD_genome_AMR=0.3381;gnomAD_genome_ASJ=0.3377;gnomAD_genome_EAS=0.2038;gnomAD_genome_FIN=0.4653;gnomAD_genome_NFE=0.4482;gnomAD_genome_OTH=0.3898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-969.77,0,-1205.59:1404:725:645:18610:20451 . 1/1:-3101.08,-357.984,0:1622:95:1490:42248:1623 0/1:-709.374,0,-881.759:1022:542:467:12985:15138 0/1:-1106.49,0,-1775.28:1888:1045:808:22075:30393 . . 0/1:-1485.71,0,-1657.91:2114:1055:1014:27810:30450 0/1:-1151.03,0,-1545.51:1735:917:790:22011:26309 1/1:-3314.17,-376.525,0:1851:121:1689:46834:2487 0/1:-945.459,0,-1228.62:1479:782:671:18574:22441 0/1:-1242.12,0,-1441.02:1735:848:857:23208:24715 0/1:-1135.78,0,-1298.74:1649:815:801:22137:23199 1/1:-2674.29,-297.91,0:1520:100:1380:38178:2023 . . 1/1:-2601.38,-300.468,0:1460:90:1336:36960:1765 . 0/1:-1130.93,0,-1491.06:1681:877:779:21623:25167 . 1/1:-2561.56,-299.775,0:1377:71:1280:35784:1390 . . . . 0/1:-921.019,0,-1136.35:1450:731:691:18675:20640 . . . 1/1:-2856.04,-329.064,0:1496:79:1372:39163:1509 0/1:-891.712,0,-1217.86:1419:733:650:17588:21061 . . 0/1:-1333.3,0,-1675.45:2013:1041:927:25624:29658 0/1:-1366.59,0,-1503.56:1803:888:877:25028:26014 1/1:-3882.36,-433.918,0:2076:129:1912:53616:2437 0/1:-1760,0,-2074.61:2507:1255:1206:33161:35979 0/1:-1032.94,0,-1406.47:1572:836:707:19708:23968 . . 0/1:-1385.59,0,-1716.38:2025:1050:936:26122:30608 . . . 0/1:-1434.36,0,-1671.24:1999:1011:960:26192:28849 . 1/1:-3411.72,-430.954,0:1855:88:1729:47601:1645 . . . 0/1:-1370.61,0,-1653.07:1996:1025:948:25769:29110 0/1:-1128.02,0,-1416.86:1804:907:849:22749:25494 . 1/1:-4254,-498.411,0:2303:117:2138:58584:2354 1/1:-2328.53,-256.544,0:1339:84:1212:33533:1795 . . . 0/1:-847.731,0,-1071.06:1266:648:588:16335:18529 0/1:-1103.99,0,-1729.54:1879:1037:807:21636:29845 . 0/1:-1522.5,0,-1931.68:2326:1176:1091:29606:33692 0/1:-1308.95,0,-1411.79:1720:847:843:23648:24600 . 0/1:-1539.33,0,-1644.71:2141:1044:1056:28971:29858 1/1:-3632.76,-402.091,0:1923:113:1759:49534:2230 . 0/1:-1206.61,0,-1330.71:1581:785:771:22014:22758 . . 0/1:-1346.3,0,-1469.46:1951:965:951:26041:27431 . 0/1:-1331.36,0,-1739.7:2031:1071:924:25597:30779 . . 0/1:-1617.5,0,-2102.69:2441:1278:1126:30578:36693 0/1:-1461.29,0,-1679.52:2103:1044:1009:27271:30012 0/1:-1643.4,0,-1445.59:2064:934:1088:30387:26846 0/1:-856.438,0,-1022.7:1222:621:574:15809:17743 1/1:-1886.47,-210.32,0:1052:63:967:26396:1404 . . . . 0/1:-1014.2,0,-1331.75:1617:860:726:20159:23689 0/1:-1106.44,0,-1398.22:1672:864:770:21017:24741 . 1/1:-3519.92,-396.58,0:1895:105:1749:48054:2071 . . 0/1:-1620.6,0,-2037.65:2385:1231:1112:30879:35433 0/1:-1146.7,0,-1377.05:1667:845:790:21511:24211 0/1:-1421.19,0,-1816.19:2114:1110:966:26794:31667 . 0/1:-1495.86,0,-1750.96:2189:1086:1054:28717:30909 . . 0/1:-1843.14,0,-2015.96:1906:968:928:28602:30101:968,928 0/1:-2067.93,0,-2328.13:2164:1106:1048:32180:34628:1106,1048 . . 1/1:-5234,-563.157,0:2107:36:2063:62638:841:36,2063 . . 0/1:-1861,0,-1885.58:1878:928:937:28688:28640:928,937 . 0/1:-2151.71,0,-2035.69:2092:1019:1063:33002:30875:1019,1063 . 0/1:-1751.1,0,-2096.51:1929:1024:896:27573:30937:1024,896 0/1:-1787.31,0,-2086.76:1904:998:895:27671:30826:998,895 0/1:-2236.86,0,-2168.65:2234:1098:1123:34370:33147:1098,1123 . . . 0/1:-1779.6,0,-1610.94:1653:795:847:26632:24493:795,847 0/1:-2186.93,0,-2244.71:2238:1126:1102:33794:34054:1126,1102 chr1 228525008 . G A 10583.91 . AB=0.425414;ABP=107.961;AC=40;AF=0.5;AN=76;AO=924;CIGAR=1X;DP=68510;DPB=2172;DPRA=0;EPP=22.9014;EPPR=127.638;GTI=0;LEN=1;MEANALT=3;MQM=32.9924;MQMR=33.7817;NS=1;NUMALT=1;ODDS=2646.41;PAIRED=0.899351;PAIREDR=0.904045;PAO=0;PQA=0;PQR=0;PRO=0;QA=22487;QR=30609;RO=1063;RPL=498;RPP=15.1931;RPPR=45.9597;RPR=426;RUN=1;SAF=466;SAP=3.1607;SAR=458;SF=0,1;SRF=536;SRP=3.17576;SRR=527;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.G16724A:p.R5575H,OBSCN:NM_052843:exon66:c.G16724A:p.R5575H,OBSCN:NM_001271223:exon77:c.G19595A:p.R6532H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1026;esp6500siv2_ea=0.1356;esp6500siv2_all=0.1026;esp6500siv2_ea=0.1356;1000g2015aug_all=0.0766773;avsnp147=rs3795809;Kaviar_AF=0.117198;Kaviar_AC=18119;Kaviar_AN=154602;ExAC_ALL=0.1335;ExAC_AFR=0.0349;ExAC_AMR=0.2661;ExAC_EAS=0.0736;ExAC_FIN=0.1100;ExAC_NFE=0.1499;ExAC_OTH=0.1473;ExAC_SAS=0.0755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.071;SIFT_pred=T;Polyphen2_HDIV_score=0.545;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.049;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.689;MutationTaster_pred=P;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_pred=D;VEST3_score=0.422;CADD_raw=4.879;CADD_phred=24.9;DANN_score=0.988;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.718;integrated_confidence_value=0;GERP++_RS=4.37;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=17.467;GDI_full_10282015=.;dpsi_max_tissue=0.0970;dpsi_zscore=0.474;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1311;gnomAD_exome_AFR=0.0329;gnomAD_exome_AMR=0.2463;gnomAD_exome_ASJ=0.1551;gnomAD_exome_EAS=0.0687;gnomAD_exome_FIN=0.0978;gnomAD_exome_NFE=0.1403;gnomAD_exome_OTH=0.1335;gnomAD_exome_SAS=0.0720;gnomAD_genome_ALL=0.0994;gnomAD_genome_AFR=0.0351;gnomAD_genome_AMR=0.2266;gnomAD_genome_ASJ=0.1424;gnomAD_genome_EAS=0.0617;gnomAD_genome_FIN=0.1051;gnomAD_genome_NFE=0.1305;gnomAD_genome_OTH=0.1173;Whole_Blood=Whole_Blood::0.140921::0.172925;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1163.15,0,-1786.39:2172:1063:924:22487:30609 . . . 0/1:-1430.39,0,-2127.26:2614:1262:1126:28163:36449 1/1:-2379.88,-349.258,0:1542:33:1301:31256:735 0/1:-1065.8,0,-1847.35:2186:1094:892:21680:32155 0/1:-993.331,0,-1431.78:1793:890:759:18796:25615 . . . 0/1:-801.849,0,-1472.95:1704:898:651:16129:26025 . . . . . . . . . 0/1:-531.549,0,-1024.61:1210:635:465:11406:18501 0/1:-1295.85,0,-2130.73:2467:1239:1023:24985:35807 . 0/1:-722.28,0,-1221.2:1507:773:600:14708:22093 . . 0/1:-697.274,0,-1356.57:1630:841:633:14789:23758 . . 0/1:-1344.53,0,-1719.75:2237:1044:1011:24958:30023 . . . . . 0/1:-945.875,0,-1382.78:1707:834:739:18266:24334 1/1:-2756.25,-403.881,0:1871:50:1574:37412:1193 . 0/1:-1198.35,0,-1690.48:2190:1033:953:23322:29971 . . 0/1:-898.862,0,-1426.84:1698:829:718:17454:24032 . . . 0/1:-503.565,0,-1041.62:1156:608:456:10913:17642 . . . . 0/1:-1247.26,0,-1944.62:2313:1145:993:24867:33195 . . . . 0/1:-514.093,0,-852.656:1093:527:460:11292:15274 . . 0/1:-616.041,0,-1016.2:1282:629:537:13055:17977 . . . 0/1:-1013.72,0,-1944.82:2200:1175:858:20722:34274 . . . 0/1:-816.323,0,-1390.52:1656:830:691:17062:23957 0/1:-989.563,0,-1693.01:1978:1022:822:19742:28916 0/1:-860.644,0,-1738.81:2025:1076:783:18236:31074 0/1:-1363.89,0,-2271.65:2532:1281:1030:26046:37444 0/1:-1109.61,0,-1658.85:2137:1037:924:22367:29851 0/1:-551.905,0,-939.185:1232:636:479:11929:17714 . . . . . . . 0/1:-1088.84,0,-1575.7:1967:953:850:20914:27586 0/1:-1050.72,0,-1844.26:2192:1092:877:21694:31403 . . 0/1:-1003.16,0,-1365.58:1802:856:785:19019:24426 0/1:-788.744,0,-1166.5:1428:693:616:14883:20129 . 0/1:-542.902,0,-887.211:1055:516:453:10752:14952 0/1:-763.358,0,-1478.63:1737:893:682:16142:25815 . . . . . . 0/1:-1347.69,0,-2138.89:1873:1003:793:21832:31051:1003,793 . . 0/1:-1023.36,0,-1319.58:1280:659:578:16208:19814:659,578 . . . 0/1:-1507.64,0,-2155.83:1990:1035:872:24266:31886:1035,872 . 0/1:-1359.35,0,-1909.59:1837:956:808:22290:28865:956,808 . . . . . 0/1:-1344.87,0,-1782.43:1693:865:770:21448:26670:865,770 . 0/1:-1065.34,0,-1737.35:1524:827:640:17629:25539:827,640 . . chr1 228525627 . C A 7032.78 . AB=0.477273;ABP=6.95843;AC=74;AF=0.5;AN=120;AO=420;CIGAR=1X;DP=64937;DPB=880;DPRA=0;EPP=15.9357;EPPR=56.71;GTI=0;LEN=1;MEANALT=3;MQM=33.6619;MQMR=33.3706;NS=1;NUMALT=1;ODDS=1046.12;PAIRED=0.930952;PAIREDR=0.923077;PAO=0;PQA=0;PQR=0;PRO=0;QA=9077;QR=12047;RO=429;RPL=146;RPP=87.7184;RPPR=84.6506;RPR=274;RUN=1;SAF=259;SAP=52.6646;SAR=161;SF=0,1;SRF=266;SRP=56.71;SRR=163;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3153;esp6500siv2_ea=0.4221;esp6500siv2_all=0.3153;esp6500siv2_ea=0.4221;1000g2015aug_all=0.240216;avsnp147=rs1757127;Kaviar_AF=0.337945;Kaviar_AC=52247;Kaviar_AN=154602;ExAC_ALL=0.3887;ExAC_AFR=0.1188;ExAC_AMR=0.3531;ExAC_EAS=0.2612;ExAC_FIN=0.4964;ExAC_NFE=0.4565;ExAC_OTH=0.3757;ExAC_SAS=0.2885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2636;dpsi_zscore=-0.798;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3489;gnomAD_exome_AFR=0.0872;gnomAD_exome_AMR=0.3144;gnomAD_exome_ASJ=0.3397;gnomAD_exome_EAS=0.2014;gnomAD_exome_FIN=0.4597;gnomAD_exome_NFE=0.4218;gnomAD_exome_OTH=0.3695;gnomAD_exome_SAS=0.2596;gnomAD_genome_ALL=0.3329;gnomAD_genome_AFR=0.1034;gnomAD_genome_AMR=0.3397;gnomAD_genome_ASJ=0.3377;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.4639;gnomAD_genome_NFE=0.4463;gnomAD_genome_OTH=0.3873;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-476.315,0,-676.216:880:429:420:9077:12047 . 1/1:-1298.17,-101.526,0:987:129:821:18371:2408 0/1:-266.251,0,-562.193:623:356:254:5595:9579 0/1:-611.468,0,-936.317:1161:610:519:11824:16776 . . 0/1:-590.038,0,-1071.29:1261:677:547:11908:18664 0/1:-443.29,0,-986.32:1047:598:417:9288:16313 1/1:-1343.55,-95.5865,0:1109:177:894:19958:3019 0/1:-415.346,0,-839.046:984:534:419:8992:14960 0/1:-403.99,0,-964.308:1012:600:382:8571:16430 0/1:-449.662,0,-927.122:1049:579:435:9305:16046 1/1:-1173.43,-64.7838,0:970:164:782:17701:2945 . . 1/1:-892.781,-65.455,0:759:110:614:13361:2055 . 0/1:-537.812,0,-804.696:974:507:442:10183:13964 . 1/1:-1019.18,-65.2879,0:812:119:658:14901:2066 . . . . 0/1:-356.841,0,-786.234:924:519:382:8353:14467 . . . 1/1:-1158.42,-69.8181,0:949:147:769:17052:2536 0/1:-386.553,0,-782.714:881:480:376:8230:13763 . . 0/1:-568.267,0,-981.314:1210:642:524:11362:17786 0/1:-490.05,0,-929.147:1034:565:444:9854:15838 1/1:-1510.09,-111.896,0:1207:183:972:21757:3052 0/1:-584.774,0,-1330.32:1481:845:590:12780:23140 0/1:-476.561,0,-733.296:905:470:412:9469:12719 . . 0/1:-562.056,0,-1153.29:1226:681:514:11310:19246 . . . 0/1:-621.855,0,-1139.7:1312:707:575:12456:19617 . 1/1:-1367.19,-110.57,0:1124:170:909:19771:2776 . . . 0/1:-587.055,0,-1114.93:1301:708:557:12364:19453 0/1:-357.71,0,-899.635:1037:600:397:8407:16198 . 1/1:-1715.53,-124.007,0:1340:191:1098:24509:3560 1/1:-935.441,-63.8213,0:787:122:632:14213:2034 . . . 0/1:-390.387,0,-641.179:793:419:347:7941:11438 0/1:-600.219,0,-1231.5:1387:778:565:12504:20953 . 0/1:-644.977,0,-1275.64:1435:788:606:13228:21670 0/1:-499.527,0,-1135.66:1182:676:477:10304:18755 . 0/1:-686.981,0,-1289.98:1438:786:612:13773:22095 1/1:-1580.56,-80.8822,0:1261:199:1031:23520:3839 . 0/1:-463.145,0,-957.387:1053:592:438:9653:16085 . . 0/1:-447.373,0,-1022.28:1115:637:438:9538:17264 . 0/1:-577.288,0,-1070.96:1183:657:490:11333:18130 . . 0/1:-593.997,0,-1166.34:1353:743:573:12440:20128 0/1:-657.159,0,-1083.13:1296:705:563:12860:19329 0/1:-596.313,0,-1103.8:1288:708:546:12317:19396 0/1:-393.012,0,-650.19:763:416:335:7543:11356 1/1:-774.631,-50.1529,0:609:92:496:11300:1671 . . . . 0/1:-411.17,0,-824.467:976:542:404:8888:14669 0/1:-539.734,0,-851.92:1045:546:466:10414:15246 . 1/1:-1353.15,-70.1508,0:1215:198:958:20835:3627 . . 0/1:-524.065,0,-1364.73:1400:824:537:11641:22776 0/1:-460.802,0,-907.806:1042:583:436:9845:15736 0/1:-690.488,0,-1088.47:1279:670:575:12992:18875 . 0/1:-416.613,0,-1115.27:1157:690:444:9562:18812 . . 0/1:-826.714,0,-1111.71:1088:567:511:13417:16959:567,511 0/1:-852.712,0,-1132.74:1100:574:520:13760:17016:574,520 . . 1/1:-1970.71,-148.139,0:1066:104:951:24870:1946:104,951 . . 0/1:-733.186,0,-932.004:918:473:438:11593:14110:473,438 . 0/1:-843.654,0,-1155.73:1098:572:516:13592:17250:572,516 . 0/1:-728.143,0,-1006.17:985:517:456:11743:15288:517,456 0/1:-690.905,0,-995.133:938:500:426:11191:14804:500,426 0/1:-830.089,0,-1120.46:1103:585:511:13540:17047:585,511 . . . 0/1:-720.823,0,-883.542:890:449:438:11412:13333:449,438 0/1:-808.424,0,-1230.5:1135:623:506:13288:18507:623,506 chr1 228525823 . C T 8621.53 . AB=0.4469;ABP=37.3716;AC=2;AF=0.5;AN=4;AO=627;CIGAR=1X;DP=2964;DPB=1403;DPRA=0;EPP=12.7386;EPPR=12.1973;GTI=0;LEN=1;MEANALT=3;MQM=32.3589;MQMR=34.2014;NS=1;NUMALT=1;ODDS=1947.29;PAIRED=0.899522;PAIREDR=0.882517;PAO=0;PQA=0;PQR=0;PRO=0;QA=16785;QR=22226;RO=715;RPL=349;RPP=20.4687;RPPR=21.0168;RPR=278;RUN=1;SAF=359;SAP=31.6897;SAR=268;SF=0;SRF=366;SRP=3.888;SRR=349;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon67:c.C16979T:p.A5660V,OBSCN:NM_052843:exon67:c.C16979T:p.A5660V,OBSCN:NM_001271223:exon78:c.C19850T:p.A6617V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=0.000998403;avsnp147=rs191098985;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=6.432e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=1.15;FATHMM_pred=T;PROVEAN_score=-2.96;PROVEAN_pred=D;VEST3_score=0.614;CADD_raw=6.985;CADD_phred=33;DANN_score=0.991;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.776;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.15;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=16.976;GDI_full_10282015=.;dpsi_max_tissue=-0.1540;dpsi_zscore=-0.590;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.816e-05;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0019;gnomAD_exome_SAS=9.789e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-860.697,0,-1306.76:1403:715:627:16785:22226 . . . . . . 0/1:-895.491,0,-1482.81:1561:817:656:17338:25491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228526011 . C T 9764.97 . AB=0.497786;ABP=3.0776;AC=38;AF=0.5;AN=72;AO=787;CIGAR=1X;DP=47854;DPB=1581;DPRA=0;EPP=24.8657;EPPR=4.767;GTI=0;LEN=1;MEANALT=3;MQM=32.2872;MQMR=32.0295;NS=1;NUMALT=1;ODDS=2583.42;PAIRED=0.893266;PAIREDR=0.894663;PAO=0;PQA=0;PQR=0;PRO=0;QA=21872;QR=21528;RO=712;RPL=448;RPP=35.7921;RPPR=61.0911;RPR=339;RUN=1;SAF=400;SAP=3.4766;SAR=387;SF=0,1;SRF=385;SRP=13.2699;SRR=327;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon68:c.C17022T:p.A5674A,OBSCN:NM_052843:exon68:c.C17022T:p.A5674A,OBSCN:NM_001271223:exon79:c.C19893T:p.A6631A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1516;esp6500siv2_ea=0.1578;esp6500siv2_all=0.1516;esp6500siv2_ea=0.1578;1000g2015aug_all=0.117612;avsnp147=rs11577699;Kaviar_AF=0.130121;Kaviar_AC=20117;Kaviar_AN=154602;ExAC_ALL=0.1635;ExAC_AFR=0.1410;ExAC_AMR=0.2789;ExAC_EAS=0.1155;ExAC_FIN=0.1421;ExAC_NFE=0.1745;ExAC_OTH=0.1747;ExAC_SAS=0.0940;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2557;dpsi_zscore=0.822;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1454;gnomAD_exome_AFR=0.1191;gnomAD_exome_AMR=0.2455;gnomAD_exome_ASJ=0.1509;gnomAD_exome_EAS=0.1012;gnomAD_exome_FIN=0.1139;gnomAD_exome_NFE=0.1490;gnomAD_exome_OTH=0.1513;gnomAD_exome_SAS=0.0821;gnomAD_genome_ALL=0.1460;gnomAD_genome_AFR=0.1371;gnomAD_genome_AMR=0.2416;gnomAD_genome_ASJ=0.1433;gnomAD_genome_EAS=0.1005;gnomAD_genome_FIN=0.1317;gnomAD_genome_NFE=0.1545;gnomAD_genome_OTH=0.1414;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1190.96,0,-1138.08:1581:712:787:21872:21528 . . . 0/1:-1177.17,0,-1519.29:1757:888:785:22120:26840 1/1:-2052,-248.029,0:1163:38:1034:28811:1008 0/1:-906.517,0,-1298.47:1440:749:615:17592:22520 0/1:-713.069,0,-1174.67:1237:670:504:14157:20255 . . . 0/1:-824.772,0,-1063:1237:628:560:15493:18826 . . . . . . . . . 0/1:-478.005,0,-677.23:793:402:351:9664:12124 0/1:-1105.27,0,-1533.67:1693:867:744:20767:26637 . 0/1:-609.361,0,-905.885:1089:555:467:12257:16782 . . 0/1:-789.093,0,-810.769:1137:529:557:15045:16130 . . 0/1:-1127.77,0,-1471.18:1700:854:761:21403:25733 . . . . . 0/1:-977.468,0,-1010.45:1274:603:605:16941:18617 0/1:-796.276,0,-1190.96:1334:683:580:15933:20686 . 0/1:-1137.1,0,-1373.86:1686:823:770:21684:24493 . . 0/1:-837.519,0,-1213.05:1303:677:571:15916:20492 . . . 0/1:-444.107,0,-790.681:811:450:328:8978:13951 . . . . 0/1:-1065.46,0,-1577.87:1656:882:695:20153:26606 . . . . 0/1:-469.642,0,-619.84:769:388:324:9245:11299 . . 0/1:-501.901,0,-740.341:849:444:366:9975:13496 . . . . . . . 1/1:-2289.36,-283.589,0:1253:32:1130:31476:848 0/1:-880.146,0,-1558.01:1640:894:659:17957:27013 . 0/1:-1222.22,0,-1733.48:1887:980:823:23030:29990 0/1:-1075.18,0,-1360.12:1573:791:708:20070:24225 0/1:-425.155,0,-806.975:921:509:353:9599:14871 . . . . 0/1:-576.981,0,-838.974:915:476:400:11404:14624 . . . 0/1:-1028.26,0,-1327.26:1562:770:725:19971:23557 . . 0/1:-1011.15,0,-1202.18:1443:699:678:18453:21262 0/1:-635.478,0,-904.49:1070:554:457:12436:16153 . 0/1:-458.102,0,-651.496:742:394:314:9053:11867 0/1:-777.697,0,-1135.07:1292:666:569:15603:20280 . . . . . . 0/1:-1501.85,0,-1769.57:1640:840:768:23322:26407:840,768 . . 0/1:-903.135,0,-1102.53:1042:529:489:14513:16553:529,489 . . . 0/1:-1505.77,0,-1852.38:1679:865:785:23869:27507:865,785 . 0/1:-1484.14,0,-1728.87:1618:810:779:23422:25963:810,779 . . . . . 0/1:-1487.75,0,-1823.61:1638:847:763:23338:27065:847,763 . 0/1:-1097.99,0,-1710.72:1430:787:607:18051:25133:787,607 . . chr1 228526087 . G A 12832.20 . AB=0.46662;ABP=16.7823;AC=1;AF=0.5;AN=2;AO=664;CIGAR=1X;DP=1423;DPB=1423;DPRA=0;EPP=164.183;EPPR=88.276;GTI=0;LEN=1;MEANALT=3;MQM=39.2575;MQMR=39.2201;NS=1;NUMALT=1;ODDS=2954.73;PAIRED=0.957831;PAIREDR=0.955163;PAO=0;PQA=0;PQR=0;PRO=0;QA=20330;QR=22987;RO=736;RPL=339;RPP=3.65128;RPPR=3.76559;RPR=325;RUN=1;SAF=252;SAP=86.7297;SAR=412;SF=1;SRF=289;SRP=76.6633;SRR=447;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs779997892;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=7.48e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0137;dpsi_zscore=-0.063;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.873e-05;gnomAD_exome_AFR=8.488e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.554e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1317.14,0,-1531.27:1423:736:664:20330:22987:736,664 . . . . . . . . . . . . . . . chr1 228526578 . T A 7001.19 . AB=0.420826;ABP=66.2783;AC=6;AF=0.5;AN=12;AO=489;CIGAR=1X;DP=7453;DPB=1162;DPRA=0;EPP=4.29364;EPPR=3.02604;GTI=0;LEN=1;MEANALT=3;MQM=33.18;MQMR=34.8551;NS=1;NUMALT=1;ODDS=1373.83;PAIRED=0.887526;PAIREDR=0.88587;PAO=0;PQA=0;PQR=0;PRO=0;QA=12389;QR=14280;RO=552;RPL=103;RPP=358.657;RPPR=183.164;RPR=386;RUN=1;SAF=275;SAP=19.5339;SAR=214;SF=0,1;SRF=320;SRP=33.4739;SRR=232;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17109A:p.S5703R,OBSCN:NM_052843:exon69:c.T17109A:p.S5703R,OBSCN:NM_001271223:exon80:c.T19980A:p.S6660R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0095;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0095;1000g2015aug_all=0.00439297;avsnp147=rs144372515;Kaviar_AF=0.0037451;Kaviar_AC=579;Kaviar_AN=154602;ExAC_ALL=0.0085;ExAC_AFR=0.0032;ExAC_AMR=0.0078;ExAC_EAS=0;ExAC_FIN=0.0221;ExAC_NFE=0.0137;ExAC_OTH=0.0110;ExAC_SAS=0.0049;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.12;SIFT_pred=T;Polyphen2_HDIV_score=0.927;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.69;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.984;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=-0.05;FATHMM_pred=T;PROVEAN_score=-2.56;PROVEAN_pred=D;VEST3_score=0.563;CADD_raw=4.894;CADD_phred=24.9;DANN_score=0.993;fathmm-MKL_coding_score=0.690;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.758;MetaSVM_pred=T;MetaLR_score=0.129;MetaLR_pred=T;integrated_fitCons_score=0.632;integrated_confidence_value=0;GERP++_RS=-0.097;phyloP7way_vertebrate=-0.243;phyloP20way_mammalian=-1.003;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.352;SiPhy_29way_logOdds=10.255;GDI_full_10282015=.;dpsi_max_tissue=3.1794;dpsi_zscore=2.272;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0089;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0179;gnomAD_exome_NFE=0.0104;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0051;gnomAD_genome_ALL=0.0084;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0203;gnomAD_genome_NFE=0.0106;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-644.979,0,-806.532:1162:552:489:12389:14280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-911.317,0,-814.844:1394:583:688:16954:15333 . . . . . . . . . . 0/1:-862.937,0,-1035.12:1532:725:658:16523:19065 . . . 0/1:-533.117,0,-616.957:978:447:420:10556:11479 . 0/1:-679.498,0,-855.545:1290:624:527:13061:16105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-849.861,0,-1143.12:1097:597:468:13710:17488:597,468 . . . . . . . . . . . chr1 228526619 . G A 7780.55 . AB=0.372259;ABP=261.535;AC=2;AF=0.5;AN=4;AO=679;CIGAR=1X;DP=2801;DPB=1824;DPRA=0;EPP=103.202;EPPR=165.942;GTI=0;LEN=1;MEANALT=3;MQM=32.9146;MQMR=33.265;NS=1;NUMALT=1;ODDS=1795.22;PAIRED=0.883652;PAIREDR=0.904854;PAO=0;PQA=0;PQR=0;PRO=0;QA=17343;QR=31243;RO=1030;RPL=255;RPP=94.3497;RPPR=43.1593;RPR=424;RUN=1;SAF=306;SAP=17.3663;SAR=373;SF=0,1;SRF=492;SRP=7.47131;SRR=538;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.G17150A:p.S5717N,OBSCN:NM_052843:exon69:c.G17150A:p.S5717N,OBSCN:NM_001271223:exon80:c.G20021A:p.S6674N;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000399361;avsnp147=rs376194851;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0.0008;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_pred=D;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_pred=N;MutationAssessor_score=0.145;MutationAssessor_pred=N;FATHMM_score=0.03;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_pred=N;VEST3_score=0.074;CADD_raw=3.667;CADD_phred=23.2;DANN_score=0.986;fathmm-MKL_coding_score=0.529;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.997;MetaSVM_pred=T;MetaLR_score=0.104;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.99;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=5.974;GDI_full_10282015=.;dpsi_max_tissue=3.2756;dpsi_zscore=2.291;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-824.441,0,-1847.87:1824:1030:679:17343:31243 . . . . . . . . . . . . . . . . 0/1:-810.142,0,-1078.23:977:506:445:12973:16043:506,445 . . . . . . . . . . . . . . . . chr1 228526665 . T C,G 17936.31 . AB=0.483294;ABP=6.13;AC=101,0;AF=0.5;AN=162;AO=622;CIGAR=1X;DP=134968;DPB=1287;DPRA=0;EPP=92.3828;EPPR=48.0352;GTI=0;LEN=1;MEANALT=3;MQM=29.9759;MQMR=32.8255;NS=1;NUMALT=1;ODDS=1804.55;PAIRED=0.845659;PAIREDR=0.874346;PAO=0;PQA=0;PQR=0;PRO=0;QA=17285;QR=15205;RO=573;RPL=382;RPP=73.4051;RPPR=58.4946;RPR=240;RUN=1;SAF=253;SAP=49.9867;SAR=369;SF=0,1;SRF=225;SRP=60.344;SRR=348;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17196C:p.A5732A,OBSCN:NM_052843:exon69:c.T17196C:p.A5732A,OBSCN:NM_001271223:exon80:c.T20067C:p.A6689A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.5554;esp6500siv2_ea=0.5569;esp6500siv2_all=0.5554;esp6500siv2_ea=0.5569;1000g2015aug_all=0.494409;avsnp147=rs505629;Kaviar_AF=0.214577;Kaviar_AC=33174;Kaviar_AN=154602;ExAC_ALL=0.4897;ExAC_AFR=0.5232;ExAC_AMR=0.4073;ExAC_EAS=0.6021;ExAC_FIN=0.7303;ExAC_NFE=0.5318;ExAC_OTH=0.4111;ExAC_SAS=0.4261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3719;dpsi_zscore=-0.950;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4856;gnomAD_exome_AFR=0.5031;gnomAD_exome_AMR=0.3851;gnomAD_exome_ASJ=0.4227;gnomAD_exome_EAS=0.5470;gnomAD_exome_FIN=0.6421;gnomAD_exome_NFE=0.5179;gnomAD_exome_OTH=0.4652;gnomAD_exome_SAS=0.3991;gnomAD_genome_ALL=0.5405;gnomAD_genome_AFR=0.5105;gnomAD_genome_AMR=0.4057;gnomAD_genome_ASJ=0.4437;gnomAD_genome_EAS=0.5286;gnomAD_genome_FIN=0.6411;gnomAD_genome_NFE=0.5447;gnomAD_genome_OTH=0.5503;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17196G:p.A5732A,OBSCN:NM_052843:exon69:c.T17196G:p.A5732A,OBSCN:NM_001271223:exon80:c.T20067G:p.A6689A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3143;dpsi_zscore=-0.874;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-898.734,0,-807.381,.,.,.:1287:573:622,.:17285,.:15205 . 1/1:-3084.22,-430.984,0,.,.,.:1568:27:1513,.:42105,.:459 0/1:-723.1,0,-619.516,.,.,.:1086:463:558,.:14511,.:12503 0/1:-1111.74,0,-996.567,.,.,.:1592:713:767,.:21330,.:19410 . . 0/1:-1188.79,0,-1321.07,.,.,.:1973:955:909,.:23994,.:25010 0/1:-996.738,0,-710.433,.,.,.:1402:582:702,.:18972,.:15022 1/1:-3521.5,-504.977,0,.,.,.:1877:27:1800,.:48958,.:606 0/1:-1021.15,0,-845.5,.,.,.:1378:593:705,.:19713,.:16138 0/1:-1005.1,0,-1016.05,.,.,.:1522:700:737,.:20128,.:18872 0/1:-1001.85,0,-818.638,.,.,.:1474:642:733,.:19915,.:16901 1/1:-2783.44,-395.297,0,.,.,.:1513:31:1429,.:39304,.:697 . 0/1:-1887.55,0,-1398.45,.,.,.:2577:1062:1358,.:36499,.:28250 1/1:-2561.24,-376.014,0,.,.,.:1405:22:1354,.:36845,.:487 . 0/1:-1209.09,0,-816.112,.,.,.:1491:618:782,.:21712,.:16337 . 1/1:-2414.62,-363.163,0,.,.,.:1305:14:1250,.:33851,.:283 0/1:-1351.34,0,-1072.4,.,.,.:1780:750:934,.:25616,.:20277 . 0/1:-1590.89,0,-1135.01,.,.,.:2139:861:1143,.:30370,.:23012 . 0/1:-882.584,0,-857.07,.,.,.:1325:612:630,.:17203,.:16537 . 1/1:-2958.49,-421.395,0,.,.,.:1576:20:1509,.:40884,.:477 0/1:-949.496,0,-718.335,.,.,.:1394:594:708,.:18676,.:15177 1/1:-2362.96,-350.736,0,.,.,.:1299:19:1242,.:33500,.:388 1/1:-2509.22,-344.181,0,.,.,.:1350:25:1296,.:35656,.:623 . 0/1:-1450.61,0,-1121.3,.,.,.:2010:849:1033,.:27480,.:22502 1/1:-3713.02,-554.859,0,.,.,.:2109:35:2006,.:52898,.:781 0/1:-1142.34,0,-994.395,.,.,.:1551:688:765,.:21590,.:18377 1/1:-3726.47,-537.312,0,.,.,.:1959:22:1870,.:51720,.:452 0/1:-1451.05,0,-1564.27,.,.,.:2389:1115:1130,.:30185,.:29524 0/1:-922.74,0,-836.937,.,.,.:1321:596:653,.:17801,.:16082 . 0/1:-976.462,0,-788.373,.,.,.:1330:566:675,.:17940,.:15125 0/1:-1352.82,0,-1136.2,.,.,.:1844:833:917,.:25672,.:22492 . . . 0/1:-1273.16,0,-1072.16,.,.,.:1791:783:903,.:24914,.:21178 . 1/1:-3056.32,-457.376,0,.,.,.:1632:13:1571,.:42515,.:275 0/1:-740.655,0,-582.224,.,.,.:1013:436:508,.:13979,.:11553 . . 1/1:-3869.85,-568.09,0,.,.,.:2079:27:1996,.:53833,.:591 1/1:-3074.2,-457.944,0,.,.,.:1631:14:1559,.:43067,.:298 . 1/1:-3872.24,-571.486,0,.,.,.:2105:24:2005,.:54294,.:546 1/1:-2305.52,-352.168,0,.,.,.:1278:15:1220,.:32988,.:257 0/1:-976.568,0,-677.118,.,.,.:1288:508:692,.:18771,.:13335 0/1:-1330.32,0,-1135.68,.,.,.:1933:825:985,.:25881,.:22417 . 0/1:-778.451,0,-773.223,.,.,.:1227:541:587,.:15830,.:14516 1/1:-3916.17,-572.339,0,.,.,.:2087:19:2003,.:54295,.:509 . 0/1:-1388.74,0,-1385.42,.,.,.:2174:1003:1043,.:28355,.:26605 0/1:-1167.49,0,-940.421,.,.,.:1573:667:792,.:21381,.:18233 . 0/1:-1192.73,0,-1217.48,.,.,.:1827:860:873,.:23870,.:23397 1/1:-3224.48,-470.538,0,.,.,.:1712:19:1657,.:45020,.:422 0/1:-688.278,0,-588.893,.,.,.:1032:439:528,.:13950,.:11776 0/1:-1156.68,0,-820.166,.,.,.:1515:630:789,.:21411,.:16662 . . 0/1:-1159.66,0,-988.444,.,.,.:1616:729:785,.:22116,.:19139 0/1:-1529.05,0,-1198.78,.,.,.:1957:821:1031,.:28045,.:22568 0/1:-1199.54,0,-1125.17,.,.,.:1815:813:880,.:23618,.:21747 . 0/1:-1143.7,0,-769.237,.,.,.:1426:586:760,.:21054,.:15956 0/1:-1345.67,0,-1269.71,.,.,.:2065:925:994,.:26661,.:24569 0/1:-1405.16,0,-975.047,.,.,.:1904:778:1001,.:26859,.:20611 0/1:-1495.67,0,-1212.9,.,.,.:1991:870:1016,.:27952,.:23508 0/1:-711.977,0,-576.543,.,.,.:1024:443:512,.:13963,.:11459 1/1:-1689.55,-243.04,0,.,.,.:957:23:893,.:24097,.:492 . . . . 0/1:-855.457,0,-804.106,.,.,.:1339:588:662,.:18127,.:16047 0/1:-1151.32,0,-866.442,.,.,.:1543:660:801,.:21864,.:17787 0/1:-873.029,0,-767.426,.,.,.:1246:545:623,.:16990,.:15091 1/1:-3296.45,-466.947,0,.,.,.:1813:35:1711,.:45992,.:773 . . 0/1:-1594.49,0,-1267.82,.,.,.:2172:938:1086,.:29525,.:25217 0/1:-981.882,0,-1003.46,.,.,.:1568:704:745,.:19988,.:19025 0/1:-1620.61,0,-1226.83,.,.,.:2085:875:1094,.:29613,.:23756 0/1:-1563.47,0,-977.061,.,.,.:1970:769:1067,.:28952,.:20305 0/1:-1489.7,0,-1002.16,.,.,.:1958:809:1025,.:27858,.:20859 . . 0/1:-1706.99,0,-1370.51,.,.,.:1721:768:899,.:26831,.:22211:768,899 0/1:-1722.44,0,-1494.97,.,.,.:1791:827:906,.:27413,.:24149:827,906 . 0/0:0,.,.,-346.403,.,-3506.78:1615:1494:.,92:.,1628:44032:1494,92 1/1:-4705.79,-545.997,0,.,.,.:2007:20:1944,.:58625,.:573:20,1944 0/1:-1646.17,0,-1328.69,.,.,.:1652:750:849,.:25697,.:22017:750,849 0/0:0,.,.,-369.992,.,-3632.16:1661:1536:.,89:.,1497:45314:1536,89 0/1:-1757.33,0,-1262.7,.,.,.:1658:698:886,.:27039,.:20771:698,886 . 0/1:-1852.51,0,-1490.92,.,.,.:1873:803:992,.:29324,.:23838:803,992 0/1:-1511.46,0,-1078.77,.,.,.:1456:621:780,.:23330,.:18171:621,780 1/1:-3908.21,-469.359,0,.,.,.:1674:12:1631,.:48271,.:285:12,1631 0/1:-1369.54,0,-1235.02,.,.,.:1446:673:736,.:21775,.:19680:673,736 0/1:-1868.12,0,-1543.93,.,.,.:1905:866:985,.:29750,.:25133:866,985 0/0:0,.,.,-361.845,.,-3682.59:1709:1577:.,102:.,1777:45881:1577,102 0/1:-1898.43,0,-1456.73,.,.,.:1844:811:982,.:29722,.:23667:811,982 . 1/1:-3559.89,-415.348,0,.,.,.:1492:12:1452,.:43787,.:357:12,1452 1/1:-5450.31,-620.365,0,.,.,.:2292:26:2219,.:67016,.:659:26,2219 chr1 228526742 . CCACACACACACACACACACACACACACACACACACG CCACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACACG 471.23 . AB=0.246377;ABP=157.216;AC=10,3,2,2,0;AF=0.5;AN=20;AO=68;CIGAR=1M2I36M;DP=3230;DPB=283.838;DPRA=0;EPP=89.3583;EPPR=39.8243;GTI=0;LEN=2;MEANALT=121;MQM=34.6765;MQMR=36.1163;NS=1;NUMALT=1;ODDS=46.7322;PAIRED=0.926471;PAIREDR=0.953488;PAO=21.5;PQA=289;PQR=289;PRO=21.5;QA=1391;QR=1385;RO=43;RPL=62;RPP=103.153;RPPR=72.1439;RPR=6;RUN=1;SAF=4;SAP=117.971;SAR=64;SF=1;SRF=7;SRP=45.4803;SRR=36;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs34417336;Kaviar_AF=0.001119;Kaviar_AC=173;Kaviar_AN=154602;ExAC_ALL=0.1420;ExAC_AFR=0.1138;ExAC_AMR=0.1071;ExAC_EAS=0.3438;ExAC_FIN=0.3;ExAC_NFE=0.1093;ExAC_OTH=0.1667;ExAC_SAS=0.2222;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1722;gnomAD_exome_AFR=0.1234;gnomAD_exome_AMR=0.1107;gnomAD_exome_ASJ=0.1128;gnomAD_exome_EAS=0.3184;gnomAD_exome_FIN=0.2182;gnomAD_exome_NFE=0.1415;gnomAD_exome_OTH=0.1640;gnomAD_exome_SAS=0.2224;gnomAD_genome_ALL=0.1116;gnomAD_genome_AFR=0.0583;gnomAD_genome_AMR=0.0557;gnomAD_genome_ASJ=0.1;gnomAD_genome_EAS=0.3141;gnomAD_genome_FIN=0.2036;gnomAD_genome_NFE=0.1012;gnomAD_genome_OTH=0.1450;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778045898;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;ExAC_ALL=0.0877;ExAC_AFR=0.0813;ExAC_AMR=0.1071;ExAC_EAS=0.0312;ExAC_FIN=0;ExAC_NFE=0.0965;ExAC_OTH=0.25;ExAC_SAS=0.1111;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1041;gnomAD_exome_AFR=0.1331;gnomAD_exome_AMR=0.1301;gnomAD_exome_ASJ=0.1142;gnomAD_exome_EAS=0.0395;gnomAD_exome_FIN=0.0847;gnomAD_exome_NFE=0.1127;gnomAD_exome_OTH=0.0965;gnomAD_exome_SAS=0.0960;gnomAD_genome_ALL=0.0857;gnomAD_genome_AFR=0.0791;gnomAD_genome_AMR=0.1614;gnomAD_genome_ASJ=0.1357;gnomAD_genome_EAS=0.0312;gnomAD_genome_FIN=0.0825;gnomAD_genome_NFE=0.0906;gnomAD_genome_OTH=0.0963;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs780118525;Kaviar_AF=0.0006727;Kaviar_AC=104;Kaviar_AN=154602;ExAC_ALL=0.0326;ExAC_AFR=0.0691;ExAC_AMR=0.0179;ExAC_EAS=0.075;ExAC_FIN=0;ExAC_NFE=0.0151;ExAC_OTH=0;ExAC_SAS=0.0556;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0438;gnomAD_exome_AFR=0.0659;gnomAD_exome_AMR=0.0255;gnomAD_exome_ASJ=0.0267;gnomAD_exome_EAS=0.1065;gnomAD_exome_FIN=0.0434;gnomAD_exome_NFE=0.0265;gnomAD_exome_OTH=0.0370;gnomAD_exome_SAS=0.0478;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs34417336;Kaviar_AF=0.0035187;Kaviar_AC=544;Kaviar_AN=154602;ExAC_ALL=0.2007;ExAC_AFR=0.0894;ExAC_AMR=0.1964;ExAC_EAS=0.175;ExAC_FIN=0.3;ExAC_NFE=0.2419;ExAC_OTH=0.1667;ExAC_SAS=0.0833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2046;gnomAD_exome_AFR=0.1526;gnomAD_exome_AMR=0.2365;gnomAD_exome_ASJ=0.2092;gnomAD_exome_EAS=0.1373;gnomAD_exome_FIN=0.2278;gnomAD_exome_NFE=0.2482;gnomAD_exome_OTH=0.1977;gnomAD_exome_SAS=0.1415;gnomAD_genome_ALL=0.3827;gnomAD_genome_AFR=0.2873;gnomAD_genome_AMR=0.38;gnomAD_genome_ASJ=0.3607;gnomAD_genome_EAS=0.2344;gnomAD_genome_FIN=0.3595;gnomAD_genome_NFE=0.4602;gnomAD_genome_OTH=0.3817;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778045898;Kaviar_AF=0.0007503;Kaviar_AC=116;Kaviar_AN=154602;ExAC_ALL=0.1087;ExAC_AFR=0.1382;ExAC_AMR=0.1429;ExAC_EAS=0.0688;ExAC_FIN=0.1;ExAC_NFE=0.1081;ExAC_OTH=0.0833;ExAC_SAS=0.0556;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1248;gnomAD_exome_AFR=0.1782;gnomAD_exome_AMR=0.1218;gnomAD_exome_ASJ=0.1231;gnomAD_exome_EAS=0.0770;gnomAD_exome_FIN=0.125;gnomAD_exome_NFE=0.1567;gnomAD_exome_OTH=0.1431;gnomAD_exome_SAS=0.0697;gnomAD_genome_ALL=0.1182;gnomAD_genome_AFR=0.1899;gnomAD_genome_AMR=0.0814;gnomAD_genome_ASJ=0.0714;gnomAD_genome_EAS=0.0724;gnomAD_genome_FIN=0.1347;gnomAD_genome_NFE=0.0823;gnomAD_genome_OTH=0.0986;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-62.2305,.,.,0,.,-52.2572,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:276:43:.,68,.,.,.:.,1391,.,.,.:1385:43,68 4/4:-36.8798,.,.,.,.,.,.,.,.,.,-98.8174,.,.,.,0,.,.,.,.,.,.:303:11:.,.,.,52,.:.,.,.,746,.:355:11,52 0/1:-109.17,0,-28.3805,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:377:49:126,.,.,.,.:2502,.,.,.,.:1601:49,126 0/1:-1.72678,0,-81.5519,.,.,.,.,.,.,.,.,.,.,.,.,-39.9728,-114.682,.,.,.,-128.143:302:59:42,.,.,.,20:838,.,.,.,317:1900:59,42,20 2/2:-23.298,.,.,-3.22244,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:278:28:.,55,.,.,.:.,1097,.,.,.:903:28,55 . . 1/1:-115.624,-68.1358,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:302:7:79,.,.,.,.:1549,.,.,.,.:222:7,79 1/1:-108.838,-99.0901,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:351:13:83,.,.,.,.:1628,.,.,.,.:422:13,83 . . . 3/3:-39.8152,.,.,.,.,.,-8.67516,.,.,0,.,.,.,.,.,.,.,.,.,.,.:353:44:.,.,89,.,.:.,.,1826,.,.:1444:44,89 . 1/1:-93.6393,-97.8414,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:265:5:65,.,.,.,.:1226,.,.,.,.:166:5,65 1/1:-70.7246,-67.9493,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:423:43:101,.,.,.,.:2047,.,.,.,.:1374:43,101 chr1 228528185 . C T 8468.14 . AB=0.43563;ABP=54.7282;AC=1;AF=0.5;AN=2;AO=626;CIGAR=1X;DP=1437;DPB=1437;DPRA=0;EPP=49.6866;EPPR=38.7878;GTI=0;LEN=1;MEANALT=3;MQM=33.1198;MQMR=32.6103;NS=1;NUMALT=1;ODDS=1949.86;PAIRED=0.915335;PAIREDR=0.882581;PAO=0;PQA=0;PQR=0;PRO=0;QA=16572;QR=23711;RO=775;RPL=277;RPP=20.9926;RPPR=72.0743;RPR=349;RUN=1;SAF=396;SAP=98.5967;SAR=230;SF=0;SRF=474;SRP=86.8684;SRR=301;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs766577712;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1979;dpsi_zscore=-0.683;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-874.564,0,-1361.7:1437:775:626:16572:23711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228528410 . TCG TCA 19420.10 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=830;CIGAR=2M1X;DP=968;DPB=978.667;DPRA=0;EPP=18.9275;EPPR=6.62942;GTI=0;LEN=1;MEANALT=19;MQM=37.6566;MQMR=29.4667;NS=1;NUMALT=1;ODDS=941.572;PAIRED=0.948193;PAIREDR=0.8;PAO=10.3333;PQA=237.333;PQR=205.333;PRO=9.33333;QA=23781;QR=392;RO=15;RPL=459;RPP=23.2704;RPPR=3.15506;RPR=371;RUN=1;SAF=295;SAP=153.705;SAR=535;SF=1;SRF=8;SRP=3.15506;SRR=7;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1963.12,-253.184,0:968:15:830:23781:392:15,830 . . . . . . . . . . . . . . chr1 228528412 . G A 5682.32 . AB=0.362013;ABP=104.886;AC=74;AF=0.5;AN=120;AO=223;CIGAR=1X;DP=50599;DPB=616;DPRA=0;EPP=80.1414;EPPR=5.58009;GTI=0;LEN=1;MEANALT=3;MQM=28.6188;MQMR=28.8284;NS=1;NUMALT=1;ODDS=480.274;PAIRED=0.901345;PAIREDR=0.949704;PAO=0;PQA=0;PQR=0;PRO=0;QA=5744;QR=9436;RO=338;RPL=154;RPP=73.3641;RPPR=92.4647;RPR=69;RUN=1;SAF=66;SAP=83.6469;SAR=157;SF=0,1;SRF=139;SRP=26.1384;SRR=199;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4097;esp6500siv2_ea=0.4247;esp6500siv2_all=0.4097;esp6500siv2_ea=0.4247;1000g2015aug_all=0.351837;avsnp147=rs1150916;Kaviar_AF=0.371625;Kaviar_AC=57454;Kaviar_AN=154602;ExAC_ALL=0.3916;ExAC_AFR=0.4236;ExAC_AMR=0.3311;ExAC_EAS=0.2294;ExAC_FIN=0.4811;ExAC_NFE=0.4383;ExAC_OTH=0.3570;ExAC_SAS=0.2760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.5616;dpsi_zscore=2.133;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3777;gnomAD_exome_AFR=0.4002;gnomAD_exome_AMR=0.3341;gnomAD_exome_ASJ=0.3539;gnomAD_exome_EAS=0.2140;gnomAD_exome_FIN=0.463;gnomAD_exome_NFE=0.4300;gnomAD_exome_OTH=0.3832;gnomAD_exome_SAS=0.2638;gnomAD_genome_ALL=0.4214;gnomAD_genome_AFR=0.4076;gnomAD_genome_AMR=0.3520;gnomAD_genome_ASJ=0.3510;gnomAD_genome_EAS=0.2120;gnomAD_genome_FIN=0.4634;gnomAD_genome_NFE=0.4487;gnomAD_genome_OTH=0.4041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-243.66,0,-493.278:616:338:223:5744:9436 . 1/1:-953.261,-135.554,0:682:28:554:14276:568 0/1:-254.694,0,-446.522:540:281:217:5817:8214 0/1:-270.94,0,-789.462:839:489:281:7099:14128 . . 0/1:-401.189,0,-895.109:1042:581:380:9898:16579 0/1:-351.828,0,-627.021:799:422:310:7932:12139 1/1:-1130.34,-152.851,0:807:38:643:17120:776 0/1:-360.657,0,-441.333:680:314:309:7871:8781 0/1:-306.363,0,-572.029:719:385:281:7297:11000 0/1:-398.633,0,-524.978:758:370:323:8472:10357 1/1:-955.621,-146.19,0:671:23:556:13942:391 . . 1/1:-781.666,-121.299,0:585:23:478:12111:476 . 0/1:-291.718,0,-638.55:736:409:274:7077:11851 . 1/1:-966.194,-133.271,0:649:24:529:13693:508 . . . . 0/1:-270.375,0,-454.548:645:318:267:6658:9065 . . 0/1:-261.494,0,-494.222:686:375:255:6501:10310 1/1:-896.9,-116.348,0:626:29:503:12760:604 0/1:-339.819,0,-504.627:699:354:292:7642:10114 . . 0/1:-572.541,0,-875.987:1163:583:472:12435:16849 0/1:-354.251,0,-526.757:714:357:293:7634:9949 1/1:-1328.65,-181.003,0:862:35:724:18902:630 0/1:-641.484,0,-1169.57:1422:752:545:14271:21547 0/1:-200.442,0,-561.404:606:350:205:5326:10150 . . 0/1:-427.415,0,-637.029:889:434:368:9527:12174 . . . 0/1:-364.823,0,-682.197:831:433:324:8187:12650 . 1/1:-1209.98,-168.202,0:835:38:688:18029:766 . . . 0/1:-482.88,0,-754.755:983:521:387:10276:14836 1/1:-1088.74,-167.202,0:768:33:645:16434:603 . 1/1:-1461,-208.322,0:1046:46:856:21677:961 1/1:-774.721,-109.729,0:562:30:452:11697:587 . . . 0/1:-332.113,0,-442.501:650:316:276:7184:8753 0/1:-502.811,0,-894.895:1114:582:438:11260:16599 . 0/1:-535.454,0,-802.918:1109:563:448:11727:15933 0/1:-403.726,0,-734.749:847:466:317:8431:13311 . 0/1:-403.841,0,-727.245:948:502:369:9427:14106 1/1:-1325.52,-161.352,0:943:54:761:19560:1151 . 0/1:-384.865,0,-646.416:804:424:321:8591:12253 . . 0/1:-390.616,0,-701.48:887:470:347:8890:13208 . 0/1:-431.945,0,-641.179:888:436:363:9391:12615 . . 0/1:-548.575,0,-905.66:1163:589:469:12103:16824 0/1:-435.729,0,-833.48:1013:539:378:9850:15330 0/1:-469.606,0,-716.665:913:459:379:10319:13389 0/1:-265.298,0,-449.218:598:308:229:5801:8716 1/1:-676.132,-78.1437,0:497:28:406:10231:661 . . . . 0/1:-358.987,0,-672.463:833:446:330:8086:12806 0/1:-408.561,0,-725.388:922:488:356:9237:13965 . 1/1:-1340.97,-188.141,0:927:40:749:19632:787 . . 0/1:-452.426,0,-640.676:914:455:378:10111:12725 0/1:-437.249,0,-582.828:848:414:367:9268:11563 0/1:-422.517,0,-725.314:953:475:386:9940:13731 . 0/1:-413.599,0,-790.447:1031:542:399:9974:15399 . . 0/1:-663.025,0,-896.125:885:451:386:10906:13787:451,386 0/1:-818.526,0,-976.773:1018:490:462:12946:15007:490,462 . . . . . 0/1:-609.941,0,-967.665:901:490:365:10346:14580:490,365 . 0/1:-861.003,0,-1144.82:1137:567:500:14046:17353:567,500 . 0/1:-664.987,0,-868.299:883:452:385:10979:13567:452,385 0/1:-675.164,0,-860.037:861:434:381:11057:13245:434,381 0/1:-633.297,0,-951.976:896:465:389:10926:14298:465,389 . . . 0/1:-699.226,0,-687.347:797:355:385:11028:10760:355,385 0/1:-762.652,0,-857.257:959:455:442:12387:13638:455,442 chr1 228528563 . CA GA 12712.15 . AB=0.464902;ABP=12.3084;AC=104;AF=0.5;AN=158;AO=404;CIGAR=1X;DP=97090;DPB=869;DPRA=0;EPP=15.3941;EPPR=21.1563;GTI=0;LEN=1;MEANALT=3;MQM=28.245;MQMR=30.9717;NS=1;NUMALT=1;ODDS=1153.73;PAIRED=0.836634;PAIREDR=0.85;PAO=0;PQA=0;PQR=0;PRO=0;QA=11149;QR=14537;RO=460;RPL=244;RPP=40.9358;RPPR=22.3458;RPR=160;RUN=1;SAF=204;SAP=3.0963;SAR=200;SF=0,1;SRF=227;SRP=3.18024;SRR=233;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon72:c.C17671G:p.Q5891E,OBSCN:NM_052843:exon72:c.C17671G:p.Q5891E,OBSCN:NM_001271223:exon83:c.C20542G:p.Q6848E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.5488;esp6500siv2_ea=0.5203;esp6500siv2_all=0.5488;esp6500siv2_ea=0.5203;1000g2015aug_all=0.538738;avsnp147=rs1188710;Kaviar_AF=0.464489;Kaviar_AC=71811;Kaviar_AN=154602;ExAC_ALL=0.5468;ExAC_AFR=0.6367;ExAC_AMR=0.48;ExAC_EAS=0.6102;ExAC_FIN=0.6691;ExAC_NFE=0.5577;ExAC_OTH=0.5109;ExAC_SAS=0.4379;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.735;MutationAssessor_pred=N;FATHMM_score=2.86;FATHMM_pred=T;PROVEAN_score=1.76;PROVEAN_pred=N;VEST3_score=0.227;CADD_raw=0.194;CADD_phred=4.616;DANN_score=0.904;fathmm-MKL_coding_score=0.259;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.947;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.12;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=-0.274;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.593;SiPhy_29way_logOdds=14.134;GDI_full_10282015=.;dpsi_max_tissue=0.6652;dpsi_zscore=1.284;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5075;gnomAD_exome_AFR=0.5969;gnomAD_exome_AMR=0.4328;gnomAD_exome_ASJ=0.4296;gnomAD_exome_EAS=0.5750;gnomAD_exome_FIN=0.6419;gnomAD_exome_NFE=0.5185;gnomAD_exome_OTH=0.4906;gnomAD_exome_SAS=0.4122;gnomAD_genome_ALL=0.5708;gnomAD_genome_AFR=0.6004;gnomAD_genome_AMR=0.4532;gnomAD_genome_ASJ=0.4636;gnomAD_genome_EAS=0.5676;gnomAD_genome_FIN=0.6428;gnomAD_genome_NFE=0.5473;gnomAD_genome_OTH=0.5491;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-772.331:869:460:404:11149:14537 . 1/1:.,.,0:1018:30:976:27355:639 0/1:.,.,-640.358:787:383:399:10854:12220 0/1:.,.,-1060.52:1169:624:535:15130:19375 . . 0/1:.,.,-1240.6:1410:742:649:17429:23253 0/1:.,.,-912.913:1098:570:515:14386:17795 1/1:.,.,0:1182:35:1125:31170:729 0/1:.,.,-868.247:1032:523:493:13719:16346 0/1:.,.,-985.191:1190:591:584:16442:18520 0/1:.,.,-920.203:1132:565:551:15320:17510 1/1:.,.,0:969:32:931:25725:743 . 0/1:.,.,-1526.83:1779:919:840:23156:28598 1/1:.,.,0:891:23:859:23583:574 . 0/1:.,.,-1073.57:1124:623:489:13506:19887 . 1/1:.,.,0:921:22:886:24345:428 0/1:.,.,-1087.55:1312:678:620:17271:21600 . 0/1:.,.,-1246.69:1450:732:704:19539:23228 . 0/1:.,.,-865.804:942:544:386:10471:16832 . 1/1:.,.,0:1033:28:997:27900:530 1/1:.,.,0:882:11:849:23482:189 1/1:.,.,0:950:29:911:25681:654 1/1:.,.,0:936:18:904:25323:393 . 0/1:.,.,-1120.65:1263:662:585:16001:20516 1/1:.,.,0:1416:45:1345:36611:1004 0/1:.,.,-1034:1053:578:457:12534:18470 1/1:.,.,0:1300:27:1258:35088:500 0/1:.,.,-1528.96:1781:935:824:22509:29086 0/1:.,.,-902.787:1047:519:516:14940:16530 . 0/1:.,.,-757.242:930:475:445:12050:14548 0/1:.,.,-1183.69:1402:724:652:18135:22886 0/1:.,.,-1088.14:1298:659:621:17218:20583 . . 0/1:.,.,-1130.75:1345:700:630:17850:21752 . 1/1:.,.,0:1284:29:1236:34404:476 0/1:.,.,-613.435:742:386:349:9473:11574 . . 1/1:.,.,0:1378:27:1333:36639:529 1/1:.,.,0:1053:31:1001:27157:644 . 1/1:.,.,0:1475:37:1420:39166:673 1/1:.,.,0:888:29:842:23214:552 0/1:.,.,-844.414:970:508:447:12367:15854 0/1:.,.,-1226.41:1353:717:619:16736:22549 . 0/1:.,.,-765.939:874:436:428:11607:13573 1/1:.,.,0:1504:37:1445:38678:652 . 0/1:.,.,-1245:1605:795:788:21884:24822 0/1:.,.,-1087.82:1230:643:578:15966:20320 . 0/1:.,.,-1366.26:1463:807:639:18118:25313 1/1:.,.,0:1227:33:1171:32501:727 0/1:.,.,-534.723:680:354:320:8712:10804 0/1:.,.,-894.411:1127:560:554:14971:17560 . . 0/1:.,.,-1042.05:1206:645:545:14696:20369 0/1:.,.,-1477.7:1654:837:798:22539:26690 0/1:.,.,-1146.3:1361:684:664:18215:21516 . 1/1:.,.,0:1041:23:1003:27592:480 0/1:.,.,-1183.17:1464:708:744:20140:22345 0/1:.,.,-1115.43:1446:709:718:19063:22225 0/1:.,.,-1171.88:1442:741:689:19426:23210 0/1:.,.,-753.606:798:435:358:9855:13789 1/1:.,.,0:752:35:707:19327:746 . . . . 0/1:.,.,-851.831:1174:554:601:16414:17141 0/1:.,.,-1167.25:1289:665:611:16975:21200 0/1:.,.,-577.255:786:359:418:11606:11389 1/1:.,.,0:1227:31:1175:32406:491 . . 0/1:.,.,-1212.8:1454:709:726:20018:22482 0/1:.,.,-1114.27:1205:667:530:14274:21131 0/1:.,.,-1231.87:1378:721:649:18372:22787 0/1:.,.,-1309.34:1473:786:667:18209:24383 0/1:.,.,-1205.27:1480:752:707:19365:23320 . . 0/1:.,.,-1544.02:1518:743:754:22982:23815:743,754 0/1:.,.,-1636.29:1612:781:809:24599:24926:781,809 . . 1/1:.,.,0:1482:17:1449:44008:397:17,1449 0/1:.,.,-1629.7:1435:767:655:19859:24445:767,655 . 0/1:.,.,-1576.96:1392:728:650:19975:23461:728,650 . 0/1:.,.,-1584.55:1655:775:863:26445:24766:775,863 0/1:.,.,-1301.69:1211:619:576:17621:19627:619,576 1/1:-2973.18,-338.563,0:1323:15:1187:34590:333:15,1187 0/1:.,.,-1421.64:1297:680:606:18220:21412:680,606 0/1:.,.,-1779.25:1584:830:737:22187:26745:830,737 . 0/1:.,.,-1495.56:1441:722:692:21112:22961:722,692 . 1/1:.,.,0:1225:27:1174:35511:608:27,1174 1/1:.,.,0:1521:14:1482:44177:258:14,1482 chr1 228528940 . C T 7165.89 . AB=0.44759;ABP=34.1934;AC=1;AF=0.5;AN=2;AO=585;CIGAR=1X;DP=1307;DPB=1307;DPRA=0;EPP=3.63761;EPPR=28.2594;GTI=0;LEN=1;MEANALT=3;MQM=30.759;MQMR=32.2598;NS=1;NUMALT=1;ODDS=1650.01;PAIRED=0.873504;PAIREDR=0.876877;PAO=0;PQA=0;PQR=0;PRO=0;QA=15119;QR=19752;RO=666;RPL=405;RPP=190.926;RPPR=63.3159;RPR=180;RUN=1;SAF=253;SAP=26.1764;SAR=332;SF=0;SRF=314;SRP=7.71842;SRR=352;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon73:c.C17842T:p.R5948W,OBSCN:NM_052843:exon73:c.C17842T:p.R5948W,OBSCN:NM_001271223:exon84:c.C20713T:p.R6905W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.116;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.920;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=2.44;FATHMM_pred=T;PROVEAN_score=-5.21;PROVEAN_pred=D;VEST3_score=0.758;CADD_raw=6.618;CADD_phred=32;DANN_score=0.996;fathmm-MKL_coding_score=0.837;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.069;MetaSVM_pred=T;MetaLR_score=0.026;MetaLR_pred=T;integrated_fitCons_score=0.632;integrated_confidence_value=0;GERP++_RS=0.772;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.759;GDI_full_10282015=.;dpsi_max_tissue=-1.0509;dpsi_zscore=-1.499;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.629e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.96e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-747.452,0,-1096.72:1307:666:585:15119:19752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228529119 . CAC CAAC 1057.65 . AB=0.358025;ABP=102.281;AC=2;AF=0.5;AN=4;AO=203;CIGAR=1M1I2M;DP=992;DPB=655.333;DPRA=0;EPP=66.4323;EPPR=48.7485;GTI=0;LEN=1;MEANALT=24;MQM=24.0739;MQMR=24.5692;NS=1;NUMALT=1;ODDS=341.608;PAIRED=0.832512;PAIREDR=0.936759;PAO=10;PQA=322;PQR=322;PRO=10;QA=3825;QR=7550;RO=253;RPL=85;RPP=14.6592;RPPR=20.3907;RPR=118;RUN=1;SAF=85;SAP=14.6592;SAR=118;SF=0;SRF=125;SRP=3.08755;SRR=128;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0335;esp6500siv2_ea=0.0021;esp6500siv2_all=0.0335;esp6500siv2_ea=0.0021;1000g2015aug_all=0.0363419;avsnp147=rs397954985;Kaviar_AF=0.0016623;Kaviar_AC=257;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.1203;ExAC_AMR=0.0052;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0020;ExAC_OTH=0.0041;ExAC_SAS=0.0047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0093;gnomAD_exome_AFR=0.1071;gnomAD_exome_AMR=0.0062;gnomAD_exome_ASJ=0.0064;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0080;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0303;gnomAD_genome_AFR=0.1037;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-165.532,0,-325.275:567:253:203:3825:7550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-83.3751,0,-378.625:425:238:117:2387:7013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228529129 . C A 3981.62 . AB=0.469027;ABP=10.5432;AC=26;AF=0.5;AN=50;AO=424;CIGAR=1X;DP=16320;DPB=904;DPRA=0;EPP=60.5543;EPPR=6.20142;GTI=0;LEN=1;MEANALT=3;MQM=28.4646;MQMR=25.513;NS=1;NUMALT=1;ODDS=1041.72;PAIRED=0.891509;PAIREDR=0.902174;PAO=0;PQA=0;PQR=0;PRO=0;QA=10262;QR=13438;RO=460;RPL=158;RPP=62.7463;RPPR=56.0509;RPR=266;RUN=1;SAF=251;SAP=34.1689;SAR=173;SF=0,1;SRF=252;SRP=12.1494;SRR=208;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0837;esp6500siv2_ea=0.0945;esp6500siv2_all=0.0837;esp6500siv2_ea=0.0945;1000g2015aug_all=0.138179;avsnp147=rs3795810;Kaviar_AF=0.118776;Kaviar_AC=18363;Kaviar_AN=154602;ExAC_ALL=0.1386;ExAC_AFR=0.0612;ExAC_AMR=0.1111;ExAC_EAS=0.3620;ExAC_FIN=0.2224;ExAC_NFE=0.1101;ExAC_OTH=0.1416;ExAC_SAS=0.1645;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9539;dpsi_zscore=1.493;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1263;gnomAD_exome_AFR=0.0541;gnomAD_exome_AMR=0.0918;gnomAD_exome_ASJ=0.0704;gnomAD_exome_EAS=0.3500;gnomAD_exome_FIN=0.1952;gnomAD_exome_NFE=0.0990;gnomAD_exome_OTH=0.1092;gnomAD_exome_SAS=0.1433;gnomAD_genome_ALL=0.1141;gnomAD_genome_AFR=0.0566;gnomAD_genome_AMR=0.0885;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.3379;gnomAD_genome_FIN=0.1963;gnomAD_genome_NFE=0.1036;gnomAD_genome_OTH=0.1547;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . 0/1:-475.491,0,-564.637:904:460:424:10262:13438 . . . . . 0/1:-354.229,0,-444.94:665:356:301:7656:10224 . 0/1:-463.197,0,-565.748:845:431:399:9915:12686 . . . 1/1:-913.745,-97.7636,0:650:84:557:14150:1529 0/1:-224.77,0,-240.95:424:208:204:5251:6106 . 0/1:-270.974,0,-385.321:541:282:251:6001:8337 . 0/1:-459.069,0,-475.433:728:361:360:9623:10540 0/1:-416.247,0,-497.42:756:384:353:9378:11288 . . . . . 0/1:-272.646,0,-275.501:465:234:222:5765:6717 . . . . . . . 0/1:-204.428,0,-269.109:412:217:186:4709:6249 . . 0/1:-419.001,0,-475.267:757:360:380:9566:10438 . . . . 0/1:-323.299,0,-356.265:556:287:261:6591:8212 0/1:-410.07,0,-403.086:680:330:337:8496:9662 . . 0/1:-428.142,0,-555.864:798:430:357:9242:12474 . . . . . . 0/1:-153.322,0,-185.901:319:165:148:3738:4719 . . . . 0/1:-485.589,0,-571.173:850:435:394:10421:12372 . . 0/1:-302.116,0,-273.272:480:230:234:6007:6635 . . . . . . . . . . . 0/1:-186.097,0,-350.496:447:264:175:4364:7492 . . . . . . 0/1:-396.967,0,-494.242:749:400:339:8555:11610 . . . . . . . . 0/1:-722.637,0,-643.638:800:372:424:11615:11497:372,424 . . . . 0/1:-517.986,0,-523.026:611:291:313:8670:8973:291,313 0/1:-484.878,0,-626.651:665:354:304:8361:10744:354,304 . . . 0/1:-713.971,0,-670.893:821:392:422:11690:11627:392,422 . 0/1:-520.445,0,-511.174:599:291:302:8235:8917:291,302 0/1:-673.416,0,-702.806:798:388:403:10904:12153:388,403 chr1 228529848 . C T 7617.87 . AB=0.453768;ABP=26.9032;AC=1;AF=0.5;AN=2;AO=584;CIGAR=1X;DP=1287;DPB=1287;DPRA=0;EPP=8.95954;EPPR=4.80236;GTI=0;LEN=1;MEANALT=3;MQM=31.6404;MQMR=31.688;NS=1;NUMALT=1;ODDS=1754.08;PAIRED=0.881849;PAIREDR=0.834633;PAO=0;PQA=0;PQR=0;PRO=0;QA=15327;QR=19170;RO=641;RPL=250;RPP=29.2464;RPPR=54.2618;RPR=334;RUN=1;SAF=324;SAP=18.2404;SAR=260;SF=0;SRF=332;SRP=4.80236;SRR=309;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon75:c.C18063T:p.A6021A,OBSCN:NM_052843:exon75:c.C18063T:p.A6021A,OBSCN:NM_001271223:exon86:c.C20934T:p.A6978A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0122;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0122;esp6500siv2_ea=0.0002;1000g2015aug_all=0.0185703;avsnp147=rs1188715;Kaviar_AF=0.0038874;Kaviar_AC=601;Kaviar_AN=154602;ExAC_ALL=0.0068;ExAC_AFR=0.0798;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.356e-05;ExAC_OTH=0.0026;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9882;dpsi_zscore=-1.464;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0476;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.842e-05;gnomAD_exome_OTH=0.0014;gnomAD_exome_SAS=3.569e-05;gnomAD_genome_ALL=0.0125;gnomAD_genome_AFR=0.0434;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-775.195,0,-1039.06:1287:641:584:15327:19170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228538568 . C G 5256.07 . AB=0.44357;ABP=34.6249;AC=2;AF=0.5;AN=4;AO=507;CIGAR=1X;DP=1815;DPB=1143;DPRA=0;EPP=12.4714;EPPR=3.09716;GTI=0;LEN=1;MEANALT=3;MQM=30.6489;MQMR=32.432;NS=1;NUMALT=1;ODDS=1631.62;PAIRED=0.83432;PAIREDR=0.8224;PAO=0;PQA=0;PQR=0;PRO=0;QA=14703;QR=19541;RO=625;RPL=254;RPP=3.01458;RPPR=16.8;RPR=253;RUN=1;SAF=258;SAP=3.35722;SAR=249;SF=0;SRF=313;SRP=3.01377;SRR=312;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon77:c.C18343G:p.R6115G,OBSCN:NM_052843:exon77:c.C18343G:p.R6115G,OBSCN:NM_001271223:exon88:c.C21214G:p.R7072G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0033;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0033;esp6500siv2_ea=0.0041;1000g2015aug_all=0.00119808;avsnp147=rs142615706;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;ExAC_ALL=0.0025;ExAC_AFR=0.0005;ExAC_AMR=0.0028;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0038;ExAC_OTH=0.0057;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.475;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-4.27;PROVEAN_pred=D;VEST3_score=0.627;CADD_raw=5.894;CADD_phred=27.4;DANN_score=0.983;fathmm-MKL_coding_score=0.901;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.381;MetaSVM_pred=T;MetaLR_score=0.317;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.806;phastCons20way_mammalian=0.870;SiPhy_29way_logOdds=14.303;GDI_full_10282015=.;dpsi_max_tissue=-0.3750;dpsi_zscore=-0.953;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0224;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0068;gnomAD_exome_SAS=3.256e-05;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-720.234,0,-1107.38:1143:625:507:14703:19541 . . . . . . . . . . . . . 0/1:-355.825,0,-677.404:672:388:272:7828:11844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228538625 . G A 3083.88 . AB=0.454545;ABP=14.0651;AC=1;AF=0.5;AN=2;AO=280;CIGAR=1X;DP=616;DPB=616;DPRA=0;EPP=3.28949;EPPR=10.3841;GTI=0;LEN=1;MEANALT=3;MQM=29.575;MQMR=30.417;NS=1;NUMALT=1;ODDS=710.089;PAIRED=0.817857;PAIREDR=0.865724;PAO=0;PQA=0;PQR=0;PRO=0;QA=7115;QR=8533;RO=283;RPL=217;RPP=186.934;RPPR=142.852;RPR=63;RUN=1;SAF=104;SAP=43.2136;SAR=176;SF=0;SRF=107;SRP=39.5417;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon77:c.G18400A:p.A6134T,OBSCN:NM_052843:exon77:c.G18400A:p.A6134T,OBSCN:NM_001271223:exon88:c.G21271A:p.A7091T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752044744;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.815e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.56e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.259;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.065;MutationAssessor_pred=N;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-1.22;PROVEAN_pred=N;VEST3_score=0.477;CADD_raw=0.772;CADD_phred=9.291;DANN_score=0.895;fathmm-MKL_coding_score=0.865;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.043;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=0.592;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=-0.274;phastCons7way_vertebrate=0.850;phastCons20way_mammalian=0.016;SiPhy_29way_logOdds=9.848;GDI_full_10282015=.;dpsi_max_tissue=-1.1859;dpsi_zscore=-1.573;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.671e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-339.286,0,-441.107:616:283:280:7115:8533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228538668 . AT GT 3067.39 . AB=0.389734;ABP=58.5604;AC=2;AF=0.5;AN=4;AO=205;CIGAR=1X1M;DP=1048;DPB=531.5;DPRA=0;EPP=3.52933;EPPR=3.46308;GTI=0;LEN=1;MEANALT=10;MQM=36.8878;MQMR=38.7404;NS=1;NUMALT=1;ODDS=837.929;PAIRED=0.902439;PAIREDR=0.92766;PAO=5.5;PQA=171;PQR=0;PRO=0;QA=6160;QR=6263;RO=235;RPL=150;RPP=98.608;RPPR=147.39;RPR=55;RUN=1;SAF=83;SAP=19.1216;SAR=122;SF=1;SRF=79;SRP=57.7961;SRR=156;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5852;dpsi_zscore=1.215;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-389.788,0,-392.363:526:235:205:6160:6263:235,205 . . . . 0/1:-268.224,0,-528.392:522:282:166:4783:7855:282,166 . . . . . . chr1 228540724 . G A 2965.03 . AB=0.486239;ABP=3.54819;AC=1;AF=0.5;AN=2;AO=159;CIGAR=1X;DP=327;DPB=327;DPRA=0;EPP=14.4959;EPPR=3.06459;GTI=0;LEN=1;MEANALT=3;MQM=40.1069;MQMR=40.2563;NS=1;NUMALT=1;ODDS=682.723;PAIRED=0.968553;PAIREDR=0.94375;PAO=0;PQA=0;PQR=0;PRO=0;QA=4748;QR=5197;RO=160;RPL=115;RPP=71.8555;RPPR=128.087;RPR=44;RUN=1;SAF=56;SAP=33.1787;SAR=103;SF=1;SRF=55;SRP=36.9396;SRR=105;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon79:c.G18622A:p.E6208K,OBSCN:NM_052843:exon79:c.G18622A:p.E6208K,OBSCN:NM_001271223:exon90:c.G21493A:p.E7165K;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.031;SIFT_pred=D;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=0.017;LRT_pred=N;MutationTaster_score=0.922;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=-1.94;PROVEAN_pred=N;VEST3_score=0.296;CADD_raw=4.994;CADD_phred=25.1;DANN_score=0.837;fathmm-MKL_coding_score=0.912;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.899;MetaSVM_pred=T;MetaLR_score=0.103;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.040;phastCons20way_mammalian=0.019;SiPhy_29way_logOdds=12.648;GDI_full_10282015=.;dpsi_max_tissue=0.8728;dpsi_zscore=1.440;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-314.728,0,-351.648:327:160:159:4748:5197:160,159 . . . . . . . . . . . . . . . . . chr1 228543800 . C T 12696.72 . AB=0.497307;ABP=3.08047;AC=29;AF=0.5;AN=54;AO=554;CIGAR=1X;DP=37586;DPB=1114;DPRA=0;EPP=82.0456;EPPR=78.2824;GTI=0;LEN=1;MEANALT=3;MQM=36.8592;MQMR=37.1795;NS=1;NUMALT=1;ODDS=2008.42;PAIRED=0.945848;PAIREDR=0.936293;PAO=0;PQA=0;PQR=0;PRO=0;QA=16560;QR=15338;RO=518;RPL=110;RPP=440.268;RPPR=341.123;RPR=444;RUN=1;SAF=394;SAP=217.633;SAR=160;SF=0,1;SRF=359;SRP=170.692;SRR=159;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1108;esp6500siv2_ea=0.0899;esp6500siv2_all=0.1108;esp6500siv2_ea=0.0899;1000g2015aug_all=0.172125;avsnp147=rs3795814;Kaviar_AF=0.0224577;Kaviar_AC=3472;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4266;dpsi_zscore=-1.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1373;gnomAD_genome_AFR=0.1557;gnomAD_genome_AMR=0.0979;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.3383;gnomAD_genome_FIN=0.1773;gnomAD_genome_NFE=0.0976;gnomAD_genome_OTH=0.1456;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-1035.61,0,-940.933:1114:518:554:16560:15338 . 0/1:-1850.62,0,-1871.4:2026:995:970:29115:29486 . . . . . 0/1:-1236.87,0,-1345.52:1446:718:687:20169:21305 . 0/1:-1518.6,0,-1715.76:1747:880:827:24335:26402 . . . 1/1:-2849.35,-310.463,0:1227:20:1173:34787:616 0/1:-921.261,0,-942.065:1104:532:528:15240:15365 . 0/1:-1119.73,0,-1014.81:1157:536:589:17430:16107 . 0/1:-1335.68,0,-1481.99:1551:781:726:21536:23177 0/1:-1100.37,0,-1567.03:1518:818:638:18568:24141 . . . . . . . 0/1:-1156.19,0,-1269.21:1363:682:624:18454:19941 . . . . . 0/1:-766.319,0,-793.855:850:410:409:11947:12267 . . 0/1:-1351.56,0,-1510.9:1587:795:745:21797:23802 . . . 0/1:-902.965,0,-914.466:1097:528:525:15088:15298 0/1:-976.763,0,-1025.92:1098:528:527:15434:16062 0/1:-1202.82,0,-1476.41:1484:767:668:19543:22803 . . 0/1:-1432.38,0,-1607.31:1707:853:796:23524:25045 . . . . . . 0/1:-677.881,0,-672.616:808:393:381:11168:11355 . . . . 0/1:-1765.18,0,-1799.91:1952:947:943:27842:28134 . . 1/1:-2874.72,-336.009,0:1222:10:1179:34780:260 . . . . . . . . . . . 0/1:-903.327,0,-990.771:1062:534:498:14909:15569 . . . . . . 0/1:-1285.86,0,-1478.43:1544:769:715:21218:22709 . . . . . . . . 0/1:-1396.93,0,-1625.38:1492:778:679:21120:23837:778,679 . . . . 0/1:-1303.96,0,-1263.94:1261:617:618:19419:18752:617,618 0/1:-1403,0,-1573.71:1468:763:675:21134:23162:763,675 . . . 0/1:-1530.3,0,-1669.59:1588:812:745:23110:24704:812,745 . 0/1:-1254.19,0,-1461.75:1320:691:608:18956:21319:691,608 0/1:-1789.53,0,-1854.29:1793:897:863:26690:27689:897,863 chr1 228547511 . G A 4821.81 . AB=0.434043;ABP=38.53;AC=2;AF=0.5;AN=4;AO=408;CIGAR=1X;DP=1599;DPB=940;DPRA=0;EPP=149.67;EPPR=54.2705;GTI=0;LEN=1;MEANALT=3;MQM=29.1838;MQMR=30.2536;NS=1;NUMALT=1;ODDS=1167.84;PAIRED=0.779412;PAIREDR=0.764948;PAO=0;PQA=0;PQR=0;PRO=0;QA=11614;QR=15105;RO=485;RPL=147;RPP=72.1781;RPPR=52.3721;RPR=261;RUN=1;SAF=268;SAP=90.2098;SAR=140;SF=0;SRF=296;SRP=54.2705;SRR=189;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G18918A:p.T6306T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.04;esp6500siv2_ea=0.0024;esp6500siv2_all=0.04;esp6500siv2_ea=0.0024;1000g2015aug_all=0.0469249;avsnp147=rs115442906;Kaviar_AF=0.0132728;Kaviar_AC=2052;Kaviar_AN=154602;ExAC_ALL=0.0208;ExAC_AFR=0.1750;ExAC_AMR=0.0100;ExAC_EAS=0.0213;ExAC_FIN=0.0046;ExAC_NFE=0.0038;ExAC_OTH=0.0048;ExAC_SAS=0.0090;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0123;gnomAD_exome_AFR=0.1311;gnomAD_exome_AMR=0.0079;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=0.0143;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0073;gnomAD_genome_ALL=0.0380;gnomAD_genome_AFR=0.1253;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0166;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-547.312,0,-789.407:940:485:408:11614:15105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-476.846,0,-523.754:659:319:309:8910:9900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228547647 . A G 7658.45 . AB=0.46371;ABP=17.1949;AC=1;AF=0.5;AN=2;AO=575;CIGAR=1X;DP=1240;DPB=1240;DPRA=0;EPP=10.6577;EPPR=10.7457;GTI=0;LEN=1;MEANALT=3;MQM=29.8383;MQMR=31.6094;NS=1;NUMALT=1;ODDS=1763.42;PAIRED=0.933913;PAIREDR=0.855219;PAO=0;PQA=0;PQR=0;PRO=0;QA=15630;QR=16553;RO=594;RPL=298;RPP=4.67572;RPPR=3.53672;RPR=277;RUN=1;SAF=307;SAP=8.75432;SAR=268;SF=0;SRF=289;SRP=3.94615;SRR=305;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.A19054G:p.R6352G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.391;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.35;MutationAssessor_pred=N;FATHMM_score=0.35;FATHMM_pred=T;PROVEAN_score=0.97;PROVEAN_pred=N;VEST3_score=0.023;CADD_raw=0.103;CADD_phred=3.642;DANN_score=0.390;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.025;MetaSVM_pred=T;MetaLR_score=0.076;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-2.28;phyloP7way_vertebrate=-0.193;phyloP20way_mammalian=0.031;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=10.408;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-775.482,0,-869.924:1240:594:575:15630:16553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228547769 . C T 4054.51 . AB=0.426584;ABP=33.3002;AC=6;AF=0.5;AN=12;AO=276;CIGAR=1X;DP=4499;DPB=647;DPRA=0;EPP=21.1374;EPPR=38.8458;GTI=0;LEN=1;MEANALT=3;MQM=30.3732;MQMR=30.04;NS=1;NUMALT=1;ODDS=691.831;PAIRED=0.894928;PAIREDR=0.868571;PAO=0;PQA=0;PQR=0;PRO=0;QA=7095;QR=10674;RO=350;RPL=225;RPP=241.211;RPPR=261.205;RPR=51;RUN=1;SAF=139;SAP=3.04177;SAR=137;SF=0,1;SRF=178;SRP=3.23365;SRR=172;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19176T:p.V6392V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0106;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0106;1000g2015aug_all=0.00479233;avsnp147=rs151322036;Kaviar_AF=0.0066623;Kaviar_AC=1030;Kaviar_AN=154602;ExAC_ALL=0.0136;ExAC_AFR=0.0033;ExAC_AMR=0.0078;ExAC_EAS=0;ExAC_FIN=0.0547;ExAC_NFE=0.0176;ExAC_OTH=0.0238;ExAC_SAS=0.0068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0083;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0088;gnomAD_exome_EAS=6.883e-05;gnomAD_exome_FIN=0.0187;gnomAD_exome_NFE=0.0103;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0052;gnomAD_genome_ALL=0.0086;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0204;gnomAD_genome_NFE=0.0110;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-337.242,0,-562.591:647:350:276:7095:10674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-553.13,0,-642.083:929:428:452:11154:12922 . . . . . . . . . . 0/1:-481.404,0,-674.219:875:426:407:10550:13064 . . . 0/1:-267.718,0,-500.991:583:311:248:6347:9582 . 0/1:-441.746,0,-743.624:858:455:367:9480:13873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-586.961,0,-571.123:607:283:311:9163:8997:283,311 . . . . . . . . . . . chr1 228547900 . AC AT,CC 1462.97 . AB=0;ABP=0;AC=2,0;AF=0;AN=28;AO=30;CIGAR=1X;DP=5045;DPB=407;DPRA=0;EPP=7.64277;EPPR=78.0647;GTI=0;LEN=1;MEANALT=2;MQM=36.7667;MQMR=37.8245;NS=1;NUMALT=1;ODDS=374.188;PAIRED=0.933333;PAIREDR=0.949468;PAO=0;PQA=0;PQR=0;PRO=0;QA=548;QR=10682;RO=376;RPL=18;RPP=5.61607;RPPR=23.801;RPR=12;RUN=1;SAF=27;SAP=44.7026;SAR=3;SF=1;SRF=247;SRP=83.4241;SRR=129;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_052843:exon81:c.19308delC:p.D6436fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.A19307C:p.D6436A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.052;SIFT_pred=T;Polyphen2_HDIV_score=0.264;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.124;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=0.53;FATHMM_pred=T;PROVEAN_score=-1.06;PROVEAN_pred=N;VEST3_score=0.079;CADD_raw=-0.179;CADD_phred=1.213;DANN_score=0.405;fathmm-MKL_coding_score=0.303;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.014;MetaSVM_pred=T;MetaLR_score=0.107;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-4.01;phyloP7way_vertebrate=-0.193;phyloP20way_mammalian=-0.228;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.842;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-846.534:407:376:.,30:.,548:10682:376,30 0/0:.,.,.,.,.,-715.601:345:311:.,32:.,707:9101:311,32 1/1:-743.169,-71.9854,0,.,.,.:333:8:300,.:9136,.:234:8,300 0/0:.,.,.,.,.,-783.339:397:362:.,35:.,640:10162:362,35 . 0/0:.,.,.,.,.,-958.564:440:413:.,26:.,557:12097:413,26 . 0/0:.,.,.,.,.,-662.179:310:289:.,18:.,377:8502:289,18 0/0:.,.,.,.,.,-929.719:418:394:.,23:.,444:11616:394,23 0/0:.,.,.,.,.,-697.997:326:300:.,24:.,466:8831:300,24 0/0:.,.,.,.,.,-799.615:383:350:.,32:.,594:9976:350,32 . 0/0:.,.,.,.,.,-599.04:289:265:.,24:.,480:7751:265,24 0/0:.,.,.,.,.,-739.549:342:316:.,24:.,499:9428:316,24 0/0:.,.,.,.,.,-792.722:382:350:.,31:.,595:10215:350,31 0/0:.,.,.,.,.,-753.642:344:320:.,23:.,451:9368:320,23 . 0/0:.,.,.,.,.,-671.339:329:298:.,31:.,520:8513:298,31 chr1 228547901 . C T 2814.22 . AB=0.513834;ABP=3.43086;AC=75;AF=0.5;AN=132;AO=130;CIGAR=1X;DP=25039;DPB=253;DPRA=0;EPP=29.7361;EPPR=31.0068;GTI=0;LEN=1;MEANALT=3;MQM=25.6769;MQMR=28.1339;NS=1;NUMALT=1;ODDS=336.255;PAIRED=0.976923;PAIREDR=0.973214;PAO=0;PQA=0;PQR=0;PRO=0;QA=3524;QR=3481;RO=112;RPL=70;RPP=4.68066;RPPR=3.32051;RPR=60;RUN=1;SAF=81;SAP=20.1148;SAR=49;SF=0,1;SRF=65;SRP=9.29206;SRR=47;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19308T:p.D6436D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2535;esp6500siv2_ea=0.3011;esp6500siv2_all=0.2535;esp6500siv2_ea=0.3011;1000g2015aug_all=0.298722;avsnp147=rs12035900;Kaviar_AF=0.303088;Kaviar_AC=46858;Kaviar_AN=154602;ExAC_ALL=0.3126;ExAC_AFR=0.1635;ExAC_AMR=0.3209;ExAC_EAS=0.2866;ExAC_FIN=0.2343;ExAC_NFE=0.2981;ExAC_OTH=0.3509;ExAC_SAS=0.4932;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3116;gnomAD_exome_AFR=0.1610;gnomAD_exome_AMR=0.3073;gnomAD_exome_ASJ=0.3537;gnomAD_exome_EAS=0.2860;gnomAD_exome_FIN=0.2291;gnomAD_exome_NFE=0.2996;gnomAD_exome_OTH=0.3208;gnomAD_exome_SAS=0.4928;gnomAD_genome_ALL=0.2446;gnomAD_genome_AFR=0.1590;gnomAD_genome_AMR=0.2864;gnomAD_genome_ASJ=0.3477;gnomAD_genome_EAS=0.3151;gnomAD_genome_FIN=0.2196;gnomAD_genome_NFE=0.2846;gnomAD_genome_OTH=0.3002;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-156.958,0,-161.061:253:112:130:3524:3481 . . 0/1:-125.554,0,-265.241:260:150:107:2823:4772 0/1:-167.345,0,-337.757:397:218:166:4391:6866 . . . . . . 0/1:-221.321,0,-286.816:356:180:161:4676:5741 . . 1/1:-486.661,-62.9603,0:280:10:263:7239:255 0/1:-223.465,0,-398.898:458:256:187:5091:8061 . 1/1:-1365.3,-192.688,0:781:16:720:20024:382 0/1:-199.483,0,-268.413:321:164:149:4028:5340 1/1:-424.27,-64.4322,0:235:2:220:6010:50 . 0/1:-188.43,0,-323.905:367:193:162:4217:6192 0/1:-105.062,0,-112.272:182:90:90:2337:2795 . 0/1:-225.145,0,-359.118:452:238:206:5255:7306 . 1/1:-709.019,-88.9539,0:423:16:387:10551:454 . . . . 0/1:-199.296,0,-336.161:378:204:166:4518:6385 0/1:-185.153,0,-394.241:422:246:158:4315:7717 . 0/1:-154.425,0,-269.006:323:171:142:3597:5382 . 0/1:-335.923,0,-578.876:712:375:307:8033:11600 . . 0/1:-246.83,0,-270.006:359:169:181:4806:5305 . 0/1:-298.457,0,-327.163:449:215:217:6090:6675 1/1:-591.263,-86.3757,0:374:11:340:8670:318 0/1:-200.723,0,-315.167:365:189:157:4180:6056 0/1:-246.108,0,-340.75:422:214:195:5302:6617 1/1:-664.572,-98.7051,0:389:9:358:9308:190 . . 1/1:-462.263,-63.8351,0:261:6:237:6540:124 1/1:-684.834,-99.7041,0:408:12:374:10278:256 . . 0/1:-218.015,0,-301.996:396:203:175:4698:6136 . . 0/1:-188.849,0,-244.511:308:147:154:4144:4765 0/1:-248.668,0,-294.494:432:207:212:5422:6437 0/1:-100.473,0,-130.245:198:96:97:2567:3082 0/1:-189.539,0,-242.637:316:155:151:3904:4877 . 0/1:-83.1826,0,-220.082:252:143:101:2413:4441 0/1:-260.885,0,-380.869:503:256:228:6057:8095 0/1:-222.516,0,-338.175:404:205:185:4940:6428 0/1:-100.085,0,-167.55:235:129:94:2412:4089 . . 0/1:-63.8933,0,-120.435:173:94:74:1918:2859 0/1:-154.789,0,-257.81:314:165:135:3526:5114 . 0/1:-247.556,0,-339.35:452:223:204:5477:7106 . . . 0/1:-118.902,0,-168.162:270:144:115:3146:4277 . 0/1:-264.026,0,-443.358:539:278:231:5915:8740 0/1:-274.31,0,-344.81:471:225:234:6235:7094 . . . 0/1:-178.506,0,-355.006:391:211:165:4325:6928 0/1:-244.281,0,-378.908:481:246:218:5784:7870 0/1:-335.346,0,-382.078:534:259:262:6904:7924 1/1:-548.232,-76.7916,0:327:9:302:8220:250 0/1:-257.638,0,-332.302:442:218:212:5608:6780 . . . . 0/1:-202.546,0,-211.571:309:143:160:4229:4458 0/1:-273.829,0,-378.416:447:234:204:5698:7344 0/1:-188.142,0,-367.677:404:221:173:4772:6922 0/1:-233.598,0,-278.329:396:199:179:4887:6132 0/1:-244.989,0,-375.34:444:233:186:5252:7213 0/1:-230.606,0,-388.442:485:270:199:5479:8368 . 0/1:-419.793,0,-498.673:469:241:219:6676:7566:241,219 0/1:-310.632,0,-382.449:342:179:159:4939:5654:179,159 0/1:-304.237,0,-472.495:406:223:175:5134:7032:223,175 0/1:-322.442,0,-348.488:344:169:170:5060:5348:169,170 . . 0/1:-386.272,0,-332.935:375:172:196:5992:5349:172,196 0/1:-425.638,0,-428.124:439:212:221:6686:6680:212,221 0/1:-317.524,0,-399.347:376:198:174:5180:6216:198,174 0/1:-283.205,0,-296.536:309:149:153:4618:4716:149,153 0/1:-383.86,0,-432.237:415:209:199:6114:6608:209,199 0/1:-299.999,0,-322.867:322:160:157:4668:5036:160,157 . 0/1:-315.721,0,-334.603:335:171:162:5027:5231:171,162 0/1:-265.222,0,-310.137:290:149:138:4252:4709:149,138 0/1:-310.078,0,-355.076:341:174:163:4955:5399:174,163 0/1:-356.445,0,-366.162:381:181:194:5688:5669:181,194 0/1:-359.323,0,-333.659:345:167:175:5581:5204:167,175 . . chr1 228548116 . C A 5437.32 . AB=0.489601;ABP=4.09415;AC=2;AF=0.5;AN=4;AO=565;CIGAR=1X;DP=1980;DPB=1154;DPRA=0;EPP=45.3828;EPPR=21.5473;GTI=0;LEN=1;MEANALT=3;MQM=29.7115;MQMR=31.8014;NS=1;NUMALT=1;ODDS=1538.7;PAIRED=0.828319;PAIREDR=0.88676;PAO=0;PQA=0;PQR=0;PRO=0;QA=15100;QR=16875;RO=574;RPL=441;RPP=389.221;RPPR=250.936;RPR=124;RUN=1;SAF=234;SAP=39.172;SAR=331;SF=0;SRF=223;SRP=64.9918;SRR=351;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19523A:p.T6508K;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0305;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0305;esp6500siv2_ea=0.0018;1000g2015aug_all=0.0357428;avsnp147=rs114563230;Kaviar_AF=0.0105367;Kaviar_AC=1629;Kaviar_AN=154602;ExAC_ALL=0.0109;ExAC_AFR=0.1118;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0019;ExAC_OTH=0.0036;ExAC_SAS=0.0043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.89;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.047;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=0.34;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_pred=N;VEST3_score=0.12;CADD_raw=1.109;CADD_phred=11.27;DANN_score=0.990;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=3.84;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.807;phastCons7way_vertebrate=0.661;phastCons20way_mammalian=0.695;SiPhy_29way_logOdds=13.265;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0093;gnomAD_exome_AFR=0.1069;gnomAD_exome_AMR=0.0062;gnomAD_exome_ASJ=0.0066;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0079;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0298;gnomAD_genome_AFR=0.1016;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-725.071,0,-898.601:1154:574:565:15100:16875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-457.205,0,-635.938:826:441:366:9524:13125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228548197 . G A 1739.19 . AB=0.391941;ABP=30.6986;AC=28;AF=0.5;AN=54;AO=107;CIGAR=1X;DP=8903;DPB=273;DPRA=0;EPP=25.1106;EPPR=3.96218;GTI=0;LEN=1;MEANALT=3;MQM=28.4486;MQMR=30.3288;NS=1;NUMALT=1;ODDS=220.128;PAIRED=0.953271;PAIREDR=0.972603;PAO=0;PQA=0;PQR=0;PRO=0;QA=2736;QR=4291;RO=146;RPL=73;RPP=33.8777;RPPR=14.6708;RPR=34;RUN=1;SAF=33;SAP=37.1247;SAR=74;SF=0,1;SRF=50;SRP=34.4818;SRR=96;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19604A:p.R6535H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0899;esp6500siv2_ea=0.0857;esp6500siv2_all=0.0899;esp6500siv2_ea=0.0857;1000g2015aug_all=0.147764;avsnp147=rs10158354;Kaviar_AF=0.114714;Kaviar_AC=17735;Kaviar_AN=154602;ExAC_ALL=0.1311;ExAC_AFR=0.1011;ExAC_AMR=0.1034;ExAC_EAS=0.3591;ExAC_FIN=0.1943;ExAC_NFE=0.0996;ExAC_OTH=0.1326;ExAC_SAS=0.1489;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=0.68;PROVEAN_pred=N;VEST3_score=0.016;CADD_raw=-0.089;CADD_phred=1.814;DANN_score=0.881;fathmm-MKL_coding_score=0.025;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.996;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.718;integrated_confidence_value=0;GERP++_RS=-5.62;phyloP7way_vertebrate=-0.084;phyloP20way_mammalian=-0.065;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.825;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1226;gnomAD_exome_AFR=0.0913;gnomAD_exome_AMR=0.0923;gnomAD_exome_ASJ=0.0699;gnomAD_exome_EAS=0.3496;gnomAD_exome_FIN=0.1814;gnomAD_exome_NFE=0.0907;gnomAD_exome_OTH=0.1035;gnomAD_exome_SAS=0.1418;gnomAD_genome_ALL=0.1181;gnomAD_genome_AFR=0.0925;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.3375;gnomAD_genome_FIN=0.1769;gnomAD_genome_NFE=0.0958;gnomAD_genome_OTH=0.1458;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-112.366,0,-221.43:273:146:107:2736:4291 . 0/1:-278.549,0,-356.095:462:222:208:5281:6372 . . . . . 0/1:-146.544,0,-237.715:298:146:126:3026:4286 . 0/1:-205.712,0,-340.284:371:197:154:4008:5876 0/1:-231.005,0,-314.542:412:208:176:4667:5870 . . 1/1:-390.548,-43.1798,0:256:16:210:5495:344 0/1:-159.075,0,-203.813:284:130:133:3296:3769 . 0/1:-124.62,0,-231.198:258:142:104:2712:4086 . 0/1:-200.31,0,-360.829:418:228:161:4282:6525 0/1:-165.088,0,-482.777:469:268:165:4109:8303 . . . . . . . . . . . . . 0/1:-121.125,0,-142.841:192:94:85:2349:2808 . . 0/1:-170.425,0,-362.334:365:204:141:3686:6016 . . . 0/1:-103,0,-251.93:256:149:93:2298:4431 0/1:-88.5675,0,-205.845:246:132:93:2111:3825 0/1:-199.659,0,-355.719:401:215:165:4140:6330 . . 0/1:-195.083,0,-482.432:497:289:179:4639:8402 . . . . . . 0/1:-141.862,0,-142.634:203:94:98:2670:2728 . . . . 0/1:-203.727,0,-324.477:393:200:166:4077:5576 . . 0/1:-78.0915,0,-197.379:228:125:83:2019:3672 . . . . . . . . . . . 0/1:-97.9466,0,-167.32:192:97:84:2085:2892 . . . . . . 0/1:-140.784,0,-379.35:369:218:130:3270:6384 . . . . . . . . 0/1:-372.53,0,-347.383:357:164:184:5599:5289:164,184 . . . . 0/1:-324.7,0,-375.689:355:182:168:4932:5697:182,168 0/1:-298.622,0,-393.986:350:183:159:4675:5902:183,159 . . . 0/1:-376.942,0,-357.066:385:177:201:5712:5491:177,201 . 0/1:-206.005,0,-351.709:280:164:111:3351:5163:164,111 0/1:-267.759,0,-412.04:333:181:146:4216:5866:181,146 chr1 228548288 . T A,G 2071.63 . AB=0.497738;ABP=3.02013;AC=1,0;AF=0.5;AN=4;AO=110;CIGAR=1X;DP=434;DPB=221;DPRA=0;EPP=20.7769;EPPR=24.391;GTI=0;LEN=1;MEANALT=2;MQM=39.1727;MQMR=39.2788;NS=1;NUMALT=1;ODDS=458.022;PAIRED=0.945455;PAIREDR=0.971154;PAO=0;PQA=0;PQR=0;PRO=0;QA=3342;QR=3290;RO=104;RPL=71;RPP=23.2247;RPPR=6.01695;RPR=39;RUN=1;SAF=35;SAP=34.5954;SAR=75;SF=1;SRF=34;SRP=30.0702;SRR=70;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.T19695A:p.A6565A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000998403;avsnp147=rs192205562;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0005;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0016;ExAC_OTH=0.0014;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.T19695G:p.A6565A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-220.838,0,-210.725,.,.,.:221:104:110,.:3342,.:3290:104,110 . . . . . . . . . 0/0:0,.,.,-36.3333,.,-450.684:213:194:.,18:.,334:5654:194,18 . . . . . . . chr1 228550344 . G A 3886.82 . AB=0.412268;ABP=49.8751;AC=4;AF=0.5;AN=8;AO=289;CIGAR=1X;DP=3253;DPB=701;DPRA=0;EPP=18.2256;EPPR=3.49484;GTI=0;LEN=1;MEANALT=3;MQM=29.0796;MQMR=29.8154;NS=1;NUMALT=1;ODDS=731.728;PAIRED=0.83737;PAIREDR=0.842975;PAO=0;PQA=0;PQR=0;PRO=0;QA=7554;QR=10953;RO=363;RPL=185;RPP=52.308;RPPR=50.3939;RPR=104;RUN=1;SAF=130;SAP=9.32936;SAR=159;SF=0;SRF=192;SRP=5.64837;SRR=171;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.G18729A:p.A6243A,OBSCN:NM_001271223:exon91:c.G21600A:p.A7200A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000199681;avsnp147=rs200257210;Kaviar_AF=0.000511;Kaviar_AC=79;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0001;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0036;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6050;dpsi_zscore=-1.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.985e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-334.234,0,-571.28:701:363:289:7554:10953 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-434.581,0,-800.273:874:452:373:9515:14379 . . . . . 0/1:-362.621,0,-696.626:794:418:324:8379:12880 . . . . . . . . . . 0/1:-496.084,0,-674.751:884:430:395:10374:13252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228550425 . GC GT 3592.44 . AB=0.503356;ABP=3.05402;AC=1;AF=0.5;AN=2;AO=225;CIGAR=1M1X;DP=447;DPB=449;DPRA=0;EPP=72.7387;EPPR=36.3367;GTI=0;LEN=1;MEANALT=10;MQM=39.7778;MQMR=39.9737;NS=1;NUMALT=1;ODDS=797.5;PAIRED=0.986667;PAIREDR=0.957895;PAO=2;PQA=40.5;PQR=40.5;PRO=2;QA=5922;QR=5765;RO=190;RPL=155;RPP=72.7387;RPPR=79.8576;RPR=70;RUN=1;SAF=85;SAP=32.2045;SAR=140;SF=1;SRF=68;SRP=36.3367;SRR=122;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon80:c.18811delC:p.P6271fs,OBSCN:NM_001271223:exon91:c.21682delC:p.P7228fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-384.282,0,-368.731:447:190:225:5922:5765:190,225 . . . chr1 228550426 . C T 1523.90 . AB=0.409677;ABP=24.9772;AC=27;AF=0.5;AN=52;AO=127;CIGAR=1X;DP=9778;DPB=310;DPRA=0;EPP=23.9556;EPPR=34.1347;GTI=0;LEN=1;MEANALT=3;MQM=28.3622;MQMR=29.1163;NS=1;NUMALT=1;ODDS=274.872;PAIRED=0.976378;PAIREDR=0.922481;PAO=0;PQA=0;PQR=0;PRO=0;QA=2958;QR=3526;RO=129;RPL=77;RPP=15.4749;RPPR=61.6064;RPR=50;RUN=1;SAF=31;SAP=75.2502;SAR=96;SF=0,1;SRF=51;SRP=15.2816;SRR=78;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.C18811T:p.P6271S,OBSCN:NM_001271223:exon91:c.C21682T:p.P7228S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0867;esp6500siv2_ea=0.0834;esp6500siv2_all=0.0867;esp6500siv2_ea=0.0834;1000g2015aug_all=0.146965;avsnp147=rs35155240;Kaviar_AF=0.1054;Kaviar_AC=16295;Kaviar_AN=154602;ExAC_ALL=0.1695;ExAC_AFR=0.1296;ExAC_AMR=0.1501;ExAC_EAS=0.4052;ExAC_FIN=0.2670;ExAC_NFE=0.1364;ExAC_OTH=0.1644;ExAC_SAS=0.1682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.687;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.07;FATHMM_pred=T;PROVEAN_score=-1.05;PROVEAN_pred=N;VEST3_score=0.244;CADD_raw=-0.124;CADD_phred=1.559;DANN_score=0.501;fathmm-MKL_coding_score=0.075;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.002;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=-3.86;phyloP7way_vertebrate=-0.662;phyloP20way_mammalian=-0.404;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=2.743;GDI_full_10282015=.;dpsi_max_tissue=-0.6828;dpsi_zscore=-1.255;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1241;gnomAD_exome_AFR=0.0922;gnomAD_exome_AMR=0.0930;gnomAD_exome_ASJ=0.0701;gnomAD_exome_EAS=0.3499;gnomAD_exome_FIN=0.1802;gnomAD_exome_NFE=0.0910;gnomAD_exome_OTH=0.1053;gnomAD_exome_SAS=0.1428;gnomAD_genome_ALL=0.1183;gnomAD_genome_AFR=0.0924;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.09;gnomAD_genome_EAS=0.3389;gnomAD_genome_FIN=0.1778;gnomAD_genome_NFE=0.0959;gnomAD_genome_OTH=0.1468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-136.997,0,-168.624:310:129:127:2958:3526 . 0/1:-199.302,0,-359.208:512:250:205:4620:6958 . . . . . 0/1:-156.786,0,-287.232:404:190:164:3606:5105 . 0/1:-142.011,0,-386.258:464:254:153:3540:6884 0/1:-114.887,0,-398.206:420:238:133:3202:6986 . . 1/1:-392.734,-58.0642,0:327:12:236:5649:217 0/1:-116.317,0,-211.578:300:142:121:2675:3890 . 0/1:-154.774,0,-243.767:364:161:151:3381:4582 . 0/1:-138.894,0,-377.341:409:226:128:3247:6450 0/1:-151.708,0,-399.921:453:248:150:3377:6960 . . . . . . . . . . . . . 0/1:-114.479,0,-174.368:229:111:93:2292:3215 . . 0/1:-151.03,0,-371.92:429:231:148:3560:6555 . . . 0/1:-78.0752,0,-250.054:279:164:81:1965:4598 0/1:-124.988,0,-256.868:295:147:115:2620:4409 0/1:-158.943,0,-387.93:470:254:163:3899:6899 . . 0/1:-162.774,0,-382.652:465:243:156:3724:6822 . . . . . . 0/1:-88.3741,0,-106.553:202:79:83:1876:2308 . . . . 0/1:-258.253,0,-343.879:488:220:212:4972:6277 . . 0/1:-116.581,0,-255.662:316:164:108:2669:4517 . . . . . . . . . . . 0/1:-117.952,0,-171.644:238:112:99:2336:3207 . . . . . . 0/1:-164.801,0,-360.541:460:220:169:3742:6114 . . . . . . . . 0/1:-282.583,0,-494.249:429:232:178:4781:7385:232,178 . . . . 0/1:-230.832,0,-415.648:347:196:142:3874:6028:196,142 0/1:-315.273,0,-438.733:414:212:189:5104:6607:212,189 . . . . . 0/1:-212.001,0,-398.765:338:186:131:3602:5814:186,131 0/1:-323.128,0,-405.935:416:204:193:5144:6206:204,193 chr1 228550429 . C T 1181.16 . AB=0.363171;ABP=66.5939;AC=9;AF=0.5;AN=18;AO=142;CIGAR=1X;DP=3206;DPB=391;DPRA=0;EPP=6.00754;EPPR=42.5857;GTI=0;LEN=1;MEANALT=3;MQM=30.4155;MQMR=31.623;NS=1;NUMALT=1;ODDS=277.793;PAIRED=0.992958;PAIREDR=0.931937;PAO=0;PQA=0;PQR=0;PRO=0;QA=3434;QR=5293;RO=191;RPL=83;RPP=11.8185;RPPR=45.3142;RPR=59;RUN=1;SAF=19;SAP=168.409;SAR=123;SF=0;SRF=60;SRP=60.3213;SRR=131;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.C18814T:p.P6272S,OBSCN:NM_001271223:exon91:c.C21685T:p.P7229S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0389;esp6500siv2_ea=0.0362;esp6500siv2_all=0.0389;esp6500siv2_ea=0.0362;1000g2015aug_all=0.0443291;avsnp147=rs11585049;Kaviar_AF=0.0342557;Kaviar_AC=5296;Kaviar_AN=154602;ExAC_ALL=0.0598;ExAC_AFR=0.0640;ExAC_AMR=0.1023;ExAC_EAS=0.1244;ExAC_FIN=0.0444;ExAC_NFE=0.0622;ExAC_OTH=0.0603;ExAC_SAS=0.0193;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.253;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_pred=N;VEST3_score=0.217;CADD_raw=0.627;CADD_phred=8.342;DANN_score=0.336;fathmm-MKL_coding_score=0.116;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.104;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=1.05;phyloP7way_vertebrate=-0.032;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=5.236;GDI_full_10282015=.;dpsi_max_tissue=-0.4573;dpsi_zscore=-1.048;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0411;gnomAD_exome_AFR=0.0460;gnomAD_exome_AMR=0.0577;gnomAD_exome_ASJ=0.0564;gnomAD_exome_EAS=0.0839;gnomAD_exome_FIN=0.0281;gnomAD_exome_NFE=0.0374;gnomAD_exome_OTH=0.0471;gnomAD_exome_SAS=0.0156;gnomAD_genome_ALL=0.0419;gnomAD_genome_AFR=0.0487;gnomAD_genome_AMR=0.0656;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0.0741;gnomAD_genome_FIN=0.0321;gnomAD_genome_NFE=0.0360;gnomAD_genome_OTH=0.0327;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-148.582,0,-295.448:391:191:142:3434:5293 . . . 0/1:-230.875,0,-368.65:500:227:192:4671:6367 . . . . 0/1:-153.276,0,-219.603:338:160:127:3204:4409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-94.5178,0,-228.145:274:147:96:2392:4040 . . . . 0/1:-165.181,0,-323.606:414:210:144:3591:5708 . . . . . . . . 0/1:-185.14,0,-276.961:404:177:168:3705:4991 0/1:-79.4291,0,-200.01:236:130:80:1811:3672 . 0/1:-141.538,0,-327.109:400:205:147:3422:5758 . . . . . . . 0/1:-90.5975,0,-156.805:249:106:89:2074:2990 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228553245 . C T 7714.28 . AB=0.465628;ABP=14.206;AC=2;AF=0.5;AN=4;AO=508;CIGAR=1X;DP=2195;DPB=1091;DPRA=0;EPP=42.4046;EPPR=30.5677;GTI=0;LEN=1;MEANALT=3;MQM=33.2264;MQMR=33.8705;NS=1;NUMALT=1;ODDS=1849.8;PAIRED=0.870079;PAIREDR=0.807554;PAO=0;PQA=0;PQR=0;PRO=0;QA=14823;QR=17744;RO=556;RPL=232;RPP=11.2858;RPPR=19.0073;RPR=276;RUN=1;SAF=262;SAP=4.10459;SAR=246;SF=0;SRF=284;SRP=3.5727;SRR=272;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon82:c.C19047T:p.I6349I,OBSCN:NM_001271223:exon93:c.C21918T:p.I7306I;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-6.3378;dpsi_zscore=-2.646;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.248e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.01e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.842e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-816.683,0,-1033.34:1091:556:508:14823:17744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-752.491,0,-1007.84:1104:556:525:14473:17916 . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228554558 . C T 8599.55 . AB=0.43414;ABP=59.0716;AC=1;AF=0.5;AN=2;AO=646;CIGAR=1X;DP=1488;DPB=1488;DPRA=0;EPP=23.4611;EPPR=10.9837;GTI=0;LEN=1;MEANALT=3;MQM=32.7043;MQMR=33.8065;NS=1;NUMALT=1;ODDS=1980.12;PAIRED=0.922601;PAIREDR=0.942484;PAO=0;PQA=0;PQR=0;PRO=0;QA=17135;QR=23284;RO=765;RPL=363;RPP=24.5233;RPPR=41.8669;RPR=283;RUN=1;SAF=369;SAP=31.4613;SAR=277;SF=0;SRF=417;SRP=16.5245;SRR=348;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon85:c.C19395T:p.H6465H,OBSCN:NM_001271223:exon96:c.C22266T:p.H7422H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0664;dpsi_zscore=0.367;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.979e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.452e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-877.369,0,-1360.67:1488:765:646:17135:23284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228554691 . C T 12454.60 . AB=0.479562;ABP=9.3122;AC=1;AF=0.5;AN=2;AO=833;CIGAR=1X;DP=1737;DPB=1737;DPRA=0;EPP=54.8363;EPPR=58.4844;GTI=0;LEN=1;MEANALT=3;MQM=33.7467;MQMR=33.7837;NS=1;NUMALT=1;ODDS=2867.78;PAIRED=0.94958;PAIREDR=0.897934;PAO=0;PQA=0;PQR=0;PRO=0;QA=22394;QR=22879;RO=823;RPL=394;RPP=8.28909;RPPR=7.88886;RPR=439;RUN=1;SAF=400;SAP=5.84912;SAR=433;SF=0;SRF=403;SRP=3.77282;SRR=420;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon86:c.C19443T:p.F6481F,OBSCN:NM_001271223:exon97:c.C22314T:p.F7438F;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs367714911;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0010;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6369;dpsi_zscore=-1.772;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.876e-05;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=3.637e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.308e-05;gnomAD_exome_NFE=4.893e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1259.87,0,-1285.33:1737:823:833:22394:22879 . . . . . . . . . . . . . . . . . . . . . . chr1 228555672 . GCC GC 9362.35 . AB=0.420968;ABP=103.921;AC=1;AF=0.5;AN=2;AO=783;CIGAR=1M1D1M;DP=1860;DPB=1598.67;DPRA=0;EPP=58.1457;EPPR=5.2;GTI=0;LEN=1;MEANALT=24;MQM=29.5045;MQMR=30.3043;NS=1;NUMALT=1;ODDS=2155.76;PAIRED=0.914432;PAIREDR=0.905561;PAO=4;PQA=63;PQR=39;PRO=2;QA=21304;QR=28892;RO=953;RPL=476;RPP=82.2177;RPPR=177.842;RPR=307;RUN=1;SAF=208;SAP=376.54;SAR=575;SF=0;SRF=265;SRP=410.712;SRR=688;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1000.52,0,-1546.58:1860:953:783:21304:28892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228556014 . C T 7241.12 . AB=0.52188;ABP=5.57595;AC=2;AF=0.5;AN=4;AO=322;CIGAR=1X;DP=2110;DPB=617;DPRA=0;EPP=32.3859;EPPR=13.8343;GTI=0;LEN=1;MEANALT=3;MQM=32.3727;MQMR=31.4154;NS=1;NUMALT=1;ODDS=816.416;PAIRED=0.937888;PAIREDR=0.896154;PAO=0;PQA=0;PQR=0;PRO=0;QA=8513;QR=7591;RO=260;RPL=126;RPP=36.0544;RPPR=70.66;RPR=196;RUN=1;SAF=198;SAP=39.9388;SAR=124;SF=0;SRF=161;SRP=35.1147;SRR=99;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;1000g2015aug_all=0.00159744;avsnp147=rs374292331;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0004;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0023;ExAC_OTH=0.0034;ExAC_SAS=0.0060;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1258;dpsi_zscore=-1.542;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0063;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-484.541,0,-374.588:617:260:322:8513:7591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1006.97,0,-1299.42:1493:750:682:18345:22113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228556781 . C T 11663.70 . AB=0.459064;ABP=27.8997;AC=1;AF=0.5;AN=2;AO=785;CIGAR=1X;DP=1710;DPB=1710;DPRA=0;EPP=130.878;EPPR=108.492;GTI=0;LEN=1;MEANALT=3;MQM=33.4548;MQMR=33.8821;NS=1;NUMALT=1;ODDS=2685.66;PAIRED=0.858599;PAIREDR=0.861905;PAO=0;PQA=0;PQR=0;PRO=0;QA=21964;QR=25203;RO=840;RPL=325;RPP=53.4244;RPPR=26.8345;RPR=460;RUN=1;SAF=433;SAP=21.1594;SAR=352;SF=0;SRF=401;SRP=6.74316;SRR=439;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0006;1000g2015aug_all=0.033746;avsnp147=rs78101947;Kaviar_AF=0.0020569;Kaviar_AC=318;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4341;dpsi_zscore=1.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0128;gnomAD_genome_AFR=0.0060;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.1236;gnomAD_genome_FIN=0.0252;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1194.92,0,-1430.51:1710:840:785:21964:25203 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228556788 . C T 14765.53 . AB=0.445263;ABP=27.7331;AC=86;AF=0.5;AN=144;AO=423;CIGAR=1X;DP=103569;DPB=950;DPRA=0;EPP=20.88;EPPR=4.79752;GTI=0;LEN=1;MEANALT=3;MQM=33.8771;MQMR=33.8992;NS=1;NUMALT=1;ODDS=1560.51;PAIRED=0.874704;PAIREDR=0.893004;PAO=0;PQA=0;PQR=0;PRO=0;QA=12475;QR=14896;RO=486;RPL=205;RPP=3.87786;RPPR=12.4647;RPR=218;RUN=1;SAF=218;SAP=3.87786;SAR=205;SF=0,1;SRF=241;SRP=3.08179;SRR=245;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3121;esp6500siv2_ea=0.3585;esp6500siv2_all=0.3121;esp6500siv2_ea=0.3585;1000g2015aug_all=0.320487;avsnp147=rs3738685;Kaviar_AF=0.326147;Kaviar_AC=50423;Kaviar_AN=154602;ExAC_ALL=0.3818;ExAC_AFR=0.2469;ExAC_AMR=0.3053;ExAC_EAS=0.3030;ExAC_FIN=0.3070;ExAC_NFE=0.3910;ExAC_OTH=0.4111;ExAC_SAS=0.5104;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4777;dpsi_zscore=1.110;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3506;gnomAD_exome_AFR=0.2308;gnomAD_exome_AMR=0.2704;gnomAD_exome_ASJ=0.3827;gnomAD_exome_EAS=0.2724;gnomAD_exome_FIN=0.2836;gnomAD_exome_NFE=0.3722;gnomAD_exome_OTH=0.3601;gnomAD_exome_SAS=0.4958;gnomAD_genome_ALL=0.3095;gnomAD_genome_AFR=0.2317;gnomAD_genome_AMR=0.2727;gnomAD_genome_ASJ=0.3742;gnomAD_genome_EAS=0.2949;gnomAD_genome_FIN=0.2786;gnomAD_genome_NFE=0.3616;gnomAD_genome_OTH=0.3532;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-687.745,0,-872.854:950:486:423:12475:14896 0/1:-1098.32,0,-1435.75:1546:818:681:20340:25293 . 0/1:-558.063,0,-607.898:751:357:366:10605:11122 0/1:-1127.74,0,-1281.48:1481:728:707:20651:22870 0/1:-1533.37,0,-1671.74:1936:943:914:27268:29239 0/1:-874.252,0,-1030.62:1163:578:550:15905:18006 . 0/1:-1157.94,0,-1139.77:1379:647:686:20372:20042 . . 0/1:-1030.86,0,-1123.41:1295:626:625:18120:19304 . . 1/1:-2222.26,-283.168,0:1072:12:1012:29609:312 0/1:-1463,0,-1649.69:1857:916:881:26281:28466 . 1/1:-6586.77,-825.91,0:3046:25:2900:86102:655 0/1:-1040.62,0,-1193.09:1324:661:622:18375:20331 1/1:-1797.21,-224.144,0:868:14:826:24175:344 . 0/1:-1073.35,0,-1356.03:1480:757:675:19821:23110 1/1:-1399.75,-176.605,0:682:12:646:18963:283 . 0/1:-1144.47,0,-1470.44:1540:809:690:20461:25413 . 1/1:-3177.76,-396.305,0:1509:19:1432:42129:500 . . 0/1:-971.401,0,-1037.47:1191:565:587:17255:17605 . 0/1:-1114.09,0,-1380.06:1474:762:669:20353:23800 0/1:-1258.22,0,-1366.86:1605:790:758:22429:24264 . 0/1:-981.707,0,-1061.19:1201:578:580:16795:18138 . 0/1:-1688.87,0,-1699.16:2111:979:1060:30428:30033 . . 0/1:-778.725,0,-974.389:1066:555:477:14302:17029 . 0/1:-1179.46,0,-1237.4:1451:700:700:20330:21623 1/1:-2842.33,-377.256,0:1357:11:1303:38343:295 0/1:-979.906,0,-1110.08:1279:627:601:17989:19298 0/1:-1132.65,0,-1377.21:1522:753:723:20692:23274 1/1:-2821.01,-344.637,0:1348:22:1280:37610:642 . . 1/1:-2354.49,-290.456,0:1100:11:1049:31020:365 1/1:-3195.03,-405.253,0:1512:18:1436:42143:504 . . 0/1:-1256.15,0,-1558.21:1658:854:766:22832:26200 . . . 0/1:-1167.8,0,-1337.11:1499:745:713:20954:22908 0/1:-491.196,0,-587.898:734:359:348:9885:10909 0/1:-696.782,0,-790.713:915:462:421:12823:14276 . 1/1:-1398.96,-187.381,0:701:7:666:19247:200 0/1:-1257.91,0,-1655.51:1785:914:803:23175:28366 0/1:-1148.65,0,-1214.58:1417:670:703:20621:20814 0/1:-557.876,0,-802.411:897:475:373:10886:14549 . . 0/1:-495.265,0,-668.44:756:383:339:9580:11499 0/1:-887.696,0,-1136.46:1239:633:570:16804:19556 0/1:-1016.77,0,-1089.28:1344:655:644:18727:20393 0/1:-997.586,0,-1122.57:1349:657:651:18953:20215 . . 0/1:-1106.51,0,-1435.83:1532:800:683:20189:24970 1/1:-1434.16,-202.695,0:778:15:734:20559:316 . 0/1:-1272.32,0,-1790.9:1932:1027:839:24660:31245 0/1:-1317.37,0,-1313.91:1645:757:835:24280:23372 . . . 0/1:-1005.17,0,-1229.85:1414:702:660:19076:21461 0/1:-1197.11,0,-1523.34:1692:871:775:22717:26717 0/1:-1274.62,0,-1489.6:1709:851:801:23147:26176 1/1:-2413.67,-312.68,0:1169:15:1113:32394:386 0/1:-996.739,0,-952.716:1249:583:619:17974:17727 . . . . 0/1:-759.28,0,-1081.1:1162:607:520:14671:18608 0/1:-1355.84,0,-1627.79:1732:882:803:23937:27477 0/1:-1099.09,0,-1101.82:1343:624:667:19370:19454 0/1:-1354.54,0,-1676.73:1782:905:820:23917:28564 0/1:-1098,0,-1536.17:1585:828:709:20802:25741 0/1:-1186.98,0,-1421.69:1566:788:726:21329:24816 . 1/1:-4495.47,-495.404,0:1744:9:1704:53126:241:9,1704 0/1:-1749.96,0,-1752.32:1715:838:848:26499:26503:838,848 0/1:-2074.9,0,-2046.48:2024:990:999:31346:31092:990,999 0/1:-1153.99,0,-1345.14:1276:654:593:18157:20421:654,593 1/1:-3798.65,-415.547,0:1467:7:1435:44668:217:7,1435 . 0/1:-1694.26,0,-1642.65:1626:774:824:25742:24866:774,824 0/1:-1628.65,0,-1901.84:1756:900:820:25079:28348:900,820 0/1:-1633.34,0,-1988.79:1779:942:817:25532:29659:942,817 0/1:-1578.71,0,-1936.57:1745:918:789:24732:28866:918,789 . 0/1:-1341.57,0,-1494:1381:700:654:20366:22272:700,654 . 0/1:-1532.55,0,-1715.03:1617:822:755:23761:25925:822,755 0/1:-1677.12,0,-1905.21:1785:915:840:26055:28786:915,840 0/1:-1415.06,0,-1907.57:1662:900:728:22448:28255:900,728 0/1:-1774.23,0,-1893.13:1776:896:859:27000:28252:896,859 0/1:-1480.74,0,-1568.72:1536:764:731:22746:23866:764,731 . . chr1 228557681 . G A 11958.00 . AB=0.448179;ABP=44.6454;AC=1;AF=0.5;AN=2;AO=800;CIGAR=1X;DP=1785;DPB=1785;DPRA=0;EPP=18.6883;EPPR=3.29872;GTI=0;LEN=1;MEANALT=3;MQM=34.7975;MQMR=35.5928;NS=1;NUMALT=1;ODDS=2753.44;PAIRED=0.93375;PAIREDR=0.891328;PAO=0;PQA=0;PQR=0;PRO=0;QA=21531;QR=27674;RO=911;RPL=374;RPP=10.3499;RPPR=3.54661;RPR=426;RUN=1;SAF=364;SAP=17.0814;SAR=436;SF=0;SRF=457;SRP=3.03175;SRR=454;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon91:c.G20006A:p.R6669H,OBSCN:NM_001271223:exon102:c.G22877A:p.R7626H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs373638525;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.867;MutationTaster_pred=D;MutationAssessor_score=0.885;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-2.86;PROVEAN_pred=D;VEST3_score=0.317;CADD_raw=7.200;CADD_phred=34;DANN_score=0.996;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.362;MetaSVM_pred=T;MetaLR_score=0.351;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.78;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.937;phastCons20way_mammalian=0.784;SiPhy_29way_logOdds=16.174;GDI_full_10282015=.;dpsi_max_tissue=0.3826;dpsi_zscore=1.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.768e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=6.5e-05;gnomAD_genome_ALL=6.479e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.693e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1209.44,0,-1676.66:1785:911:800:21531:27674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228557938 . T C 2565.87 . AB=0.460784;ABP=8.46027;AC=1;AF=0.5;AN=2;AO=188;CIGAR=1X;DP=408;DPB=408;DPRA=0;EPP=118.514;EPPR=82.5163;GTI=0;LEN=1;MEANALT=2;MQM=32.6383;MQMR=33.3663;NS=1;NUMALT=1;ODDS=590.813;PAIRED=0.882979;PAIREDR=0.886139;PAO=0;PQA=0;PQR=0;PRO=0;QA=5620;QR=6097;RO=202;RPL=160;RPP=204.264;RPPR=163.011;RPR=28;RUN=1;SAF=36;SAP=158.432;SAR=152;SF=0;SRF=36;SRP=184.683;SRR=166;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon92:c.T20165C:p.L6722P,OBSCN:NM_001271223:exon103:c.T23036C:p.L7679P;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200648151;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0001;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.236e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_pred=D;Polyphen2_HDIV_score=0.697;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.205;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=-1.81;PROVEAN_pred=N;VEST3_score=0.512;CADD_raw=4.882;CADD_phred=24.9;DANN_score=0.839;fathmm-MKL_coding_score=0.208;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.110;MetaSVM_pred=T;MetaLR_score=0.055;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=0.508;phyloP7way_vertebrate=0.041;phyloP20way_mammalian=-0.303;phastCons7way_vertebrate=0.960;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=5.786;GDI_full_10282015=.;dpsi_max_tissue=1.9722;dpsi_zscore=1.959;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.588e-05;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=6.472e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-314.593,0,-347.652:408:202:188:5620:6097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228558849 . C T 4990.55 . AB=0.453749;ABP=22.0926;AC=2;AF=0.5;AN=4;AO=466;CIGAR=1X;DP=1786;DPB=1027;DPRA=0;EPP=3.17805;EPPR=23.3215;GTI=0;LEN=1;MEANALT=3;MQM=30.3069;MQMR=30.4303;NS=1;NUMALT=1;ODDS=1412.48;PAIRED=0.886266;PAIREDR=0.886051;PAO=0;PQA=0;PQR=0;PRO=0;QA=12392;QR=15126;RO=509;RPL=208;RPP=14.6598;RPPR=8.85066;RPR=258;RUN=1;SAF=204;SAP=18.6859;SAR=262;SF=0;SRF=226;SRP=16.871;SRR=283;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20370T:p.S6790S,OBSCN:NM_001271223:exon105:c.C23241T:p.S7747S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0018;1000g2015aug_all=0.00519169;avsnp147=rs147337644;Kaviar_AF=0.0025161;Kaviar_AC=389;Kaviar_AN=154602;ExAC_ALL=0.0027;ExAC_AFR=0.0133;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0012;ExAC_SAS=0.0042;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1001;dpsi_zscore=-0.449;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0027;gnomAD_exome_AFR=0.0124;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0109;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0103;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-624.485,0,-791.291:1027:509:466:12392:15126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-395.807,0,-598.618:759:384:322:8470:11534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228558892 . C T 5627.74 . AB=0.39539;ABP=110.229;AC=15;AF=0.5;AN=30;AO=446;CIGAR=1X;DP=15167;DPB=1128;DPRA=0;EPP=51.698;EPPR=8.98451;GTI=0;LEN=1;MEANALT=3;MQM=30.87;MQMR=29.91;NS=1;NUMALT=1;ODDS=1298.65;PAIRED=0.88565;PAIREDR=0.844517;PAO=0;PQA=0;PQR=0;PRO=0;QA=12366;QR=18043;RO=611;RPL=298;RPP=112.558;RPPR=63.9999;RPR=148;RUN=1;SAF=149;SAP=109.656;SAR=297;SF=0,1;SRF=215;SRP=119.442;SRR=396;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20413T:p.R6805W,OBSCN:NM_001271223:exon105:c.C23284T:p.R7762W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0473;esp6500siv2_ea=0.0650;esp6500siv2_all=0.0473;esp6500siv2_ea=0.0650;1000g2015aug_all=0.033746;avsnp147=rs35186354;Kaviar_AF=0.0549087;Kaviar_AC=8489;Kaviar_AN=154602;ExAC_ALL=0.0663;ExAC_AFR=0.0125;ExAC_AMR=0.0289;ExAC_EAS=0.0007;ExAC_FIN=0.1207;ExAC_NFE=0.0775;ExAC_OTH=0.0971;ExAC_SAS=0.0854;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.913;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_pred=T;PROVEAN_score=-3.05;PROVEAN_pred=D;VEST3_score=0.344;CADD_raw=6.518;CADD_phred=31;DANN_score=0.991;fathmm-MKL_coding_score=0.310;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.953;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=1.42;phyloP7way_vertebrate=-0.022;phyloP20way_mammalian=0.018;phastCons7way_vertebrate=0.802;phastCons20way_mammalian=0.810;SiPhy_29way_logOdds=10.441;GDI_full_10282015=.;dpsi_max_tissue=-0.1921;dpsi_zscore=-0.671;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0562;gnomAD_exome_AFR=0.0112;gnomAD_exome_AMR=0.0260;gnomAD_exome_ASJ=0.0562;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.102;gnomAD_exome_NFE=0.0658;gnomAD_exome_OTH=0.0574;gnomAD_exome_SAS=0.0770;gnomAD_genome_ALL=0.0538;gnomAD_genome_AFR=0.0122;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1049;gnomAD_genome_NFE=0.0713;gnomAD_genome_OTH=0.0837;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-604.375,0,-952.642:1128:611:446:12366:18043 . . . . . 0/1:-570.495,0,-618.136:836:379:397:10900:11459 . . 0/1:-523.925,0,-760.949:930:466:406:11027:14138 . . 0/1:-531.072,0,-778.978:960:490:414:11211:14551 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-617.284,0,-959.161:1156:589:490:12844:17655 . . . . . . 0/1:-271.17,0,-405.405:578:288:250:6529:8542 . . . . . . . 0/1:-435.919,0,-582.1:765:385:334:8925:11487 . . . . . . . . . . . 0/1:-386.338,0,-563.222:690:356:289:8031:10527 . . . . . . 0/1:-650.844,0,-1136.91:1251:663:518:13791:20151 . . . . . . . . 0/1:-1045.24,0,-1366.32:1269:662:584:16801:20560:662,584 . . . . 0/1:-800.305,0,-980.466:934:479:424:12552:14768:479,424 0/1:-918.698,0,-983.506:1039:502:510:14646:15401:502,510 . . . 0/1:-1075.24,0,-1170.72:1164:569:563:16653:17814:569,563 . 0/1:-1049.66,0,-1003.63:1084:509:549:16081:15664:509,549 0/1:-1093.03,0,-1528.26:1383:745:605:17622:22894:745,605 chr1 228558952 . T G 3202.90 . AB=0.577154;ABP=28.8112;AC=1;AF=0.5;AN=2;AO=288;CIGAR=1X;DP=499;DPB=499;DPRA=0;EPP=31.9934;EPPR=4.4005;GTI=0;LEN=1;MEANALT=3;MQM=25.1562;MQMR=28.4444;NS=1;NUMALT=1;ODDS=399.131;PAIRED=0.875;PAIREDR=0.777778;PAO=0;PQA=0;PQR=0;PRO=0;QA=7471;QR=4774;RO=189;RPL=172;RPP=26.6552;RPPR=51.5525;RPR=116;RUN=1;SAF=97;SAP=69.6323;SAR=191;SF=0;SRF=65;SRP=43.0045;SRR=124;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T20473G:p.F6825V,OBSCN:NM_001271223:exon105:c.T23344G:p.F7782V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0103;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0103;1000g2015aug_all=0.00219649;avsnp147=rs113876855;Kaviar_AF=0.0063324;Kaviar_AC=979;Kaviar_AN=154602;ExAC_ALL=0.0112;ExAC_AFR=0.0023;ExAC_AMR=0.0065;ExAC_EAS=0;ExAC_FIN=0.0318;ExAC_NFE=0.0158;ExAC_OTH=0.0183;ExAC_SAS=0.0007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=0.483;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.084;Polyphen2_HVAR_pred=B;LRT_score=0.815;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=0.14;FATHMM_pred=T;PROVEAN_score=-1.53;PROVEAN_pred=N;VEST3_score=0.323;CADD_raw=2.292;CADD_phred=18.11;DANN_score=0.904;fathmm-MKL_coding_score=0.511;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.030;MetaSVM_pred=T;MetaLR_score=0.066;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=3.41;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.931;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=3.620;GDI_full_10282015=.;dpsi_max_tissue=0.2408;dpsi_zscore=0.798;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0038;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0224;gnomAD_exome_NFE=0.0092;gnomAD_exome_OTH=0.0085;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0098;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0243;gnomAD_genome_NFE=0.0119;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-344.241,0,-194.084:499:189:288:7471:4774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228558992 . CCAG CG 1402.22 . AB=0.535176;ABP=7.28777;AC=1;AF=0.5;AN=2;AO=213;CIGAR=1M2D1M;DP=398;DPB=299.5;DPRA=0;EPP=18.5164;EPPR=30.668;GTI=0;LEN=2;MEANALT=17;MQM=22.6291;MQMR=29.0132;NS=1;NUMALT=1;ODDS=322.872;PAIRED=0.887324;PAIREDR=0.953947;PAO=7.5;PQA=222;PQR=264;PRO=8.5;QA=4379;QR=4675;RO=152;RPL=172;RPP=177.962;RPPR=89.9263;RPR=41;RUN=1;SAF=48;SAP=142.566;SAR=165;SF=0;SRF=25;SRP=151.642;SRR=127;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon94:c.20514_20515del:p.A6838fs,OBSCN:NM_001271223:exon105:c.23385_23386del:p.A7795fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0038;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0038;1000g2015aug_all=0.00199681;avsnp147=rs536227878;Kaviar_AF=0.0022768;Kaviar_AC=352;Kaviar_AN=154602;ExAC_ALL=0.0058;ExAC_AFR=0;ExAC_AMR=0.0042;ExAC_EAS=0;ExAC_FIN=0.0119;ExAC_NFE=0.0099;ExAC_OTH=0.0044;ExAC_SAS=0.0007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0022;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0087;gnomAD_exome_NFE=0.0051;gnomAD_exome_OTH=0.0039;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0058;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0106;gnomAD_genome_NFE=0.0090;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-184.548,0,-228.269:398:152:213:4379:4675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228559263 . C T 7270.66 . AB=0.477361;ABP=6.45151;AC=1;AF=0.5;AN=2;AO=369;CIGAR=1X;DP=773;DPB=773;DPRA=0;EPP=3.01618;EPPR=3.03223;GTI=0;LEN=1;MEANALT=3;MQM=40.0163;MQMR=40.2677;NS=1;NUMALT=1;ODDS=1674.13;PAIRED=0.915989;PAIREDR=0.89899;PAO=0;PQA=0;PQR=0;PRO=0;QA=11419;QR=12370;RO=396;RPL=119;RPP=103.998;RPPR=235.709;RPR=250;RUN=1;SAF=226;SAP=43.5503;SAR=143;SF=1;SRF=240;SRP=41.702;SRR=156;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20784T:p.A6928A,OBSCN:NM_001271223:exon105:c.C23655T:p.A7885A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs374224474;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0022;ExAC_AMR=0;ExAC_EAS=0.0010;ExAC_FIN=0;ExAC_NFE=9.929e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0794;dpsi_zscore=-0.383;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.646e-05;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.647e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-749.329,0,-831.621:773:396:369:11419:12370:396,369 . . . . . . . . . . . . chr1 228559386 . G A 2422.72 . AB=0.432432;ABP=23.5513;AC=2;AF=0.5;AN=4;AO=224;CIGAR=1X;DP=928;DPB=518;DPRA=0;EPP=4.91034;EPPR=13.073;GTI=0;LEN=1;MEANALT=3;MQM=28.5;MQMR=28.4085;NS=1;NUMALT=1;ODDS=532.119;PAIRED=0.9375;PAIREDR=0.919149;PAO=0;PQA=0;PQR=0;PRO=0;QA=5386;QR=6134;RO=235;RPL=147;RPP=50.5113;RPPR=15.6603;RPR=77;RUN=1;SAF=82;SAP=37.909;SAR=142;SF=0,1;SRF=91;SRP=28.9663;SRR=144;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G20907A:p.P6969P,OBSCN:NM_001271223:exon105:c.G23778A:p.P7926P;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0947;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0947;esp6500siv2_ea=0.0034;1000g2015aug_all=0.122204;avsnp147=rs60919227;Kaviar_AF=0.030226;Kaviar_AC=4673;Kaviar_AN=154602;ExAC_ALL=0.0331;ExAC_AFR=0.3772;ExAC_AMR=0.0198;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0026;ExAC_OTH=0.0152;ExAC_SAS=0.0051;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1057;dpsi_zscore=0.501;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0276;gnomAD_exome_AFR=0.3549;gnomAD_exome_AMR=0.0201;gnomAD_exome_ASJ=0.0120;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0166;gnomAD_exome_SAS=0.0053;gnomAD_genome_ALL=0.0993;gnomAD_genome_AFR=0.3451;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0.0154;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-246.918,0,-287.636:518:235:224:5386:6134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-306.193,0,-423.792:410:212:186:4951:6383:212,186 . . . . . . . . . . . . . . . chr1 228559430 . G A 1887.39 . AB=0.471098;ABP=5.52067;AC=6;AF=0.5;AN=12;AO=163;CIGAR=1X;DP=2272;DPB=346;DPRA=0;EPP=4.08938;EPPR=3.22215;GTI=0;LEN=1;MEANALT=3;MQM=28.1472;MQMR=31.3293;NS=1;NUMALT=1;ODDS=420.331;PAIRED=0.91411;PAIREDR=0.97561;PAO=0;PQA=0;PQR=0;PRO=0;QA=4022;QR=4696;RO=164;RPL=72;RPP=7.81951;RPPR=11.961;RPR=91;RUN=1;SAF=70;SAP=10.0576;SAR=93;SF=0;SRF=55;SRP=41.6201;SRR=109;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G20951A:p.R6984Q,OBSCN:NM_001271223:exon105:c.G23822A:p.R7941Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0227;esp6500siv2_ea=0.0309;esp6500siv2_all=0.0227;esp6500siv2_ea=0.0309;1000g2015aug_all=0.0217652;avsnp147=rs41305136;Kaviar_AF=0.0289453;Kaviar_AC=4475;Kaviar_AN=154602;ExAC_ALL=0.0317;ExAC_AFR=0.0063;ExAC_AMR=0.0097;ExAC_EAS=0.0006;ExAC_FIN=0.0292;ExAC_NFE=0.0364;ExAC_OTH=0.0377;ExAC_SAS=0.0760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.587;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.254;CADD_raw=-0.220;CADD_phred=0.997;DANN_score=0.532;fathmm-MKL_coding_score=0.041;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.057;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=-3.53;phyloP7way_vertebrate=-2.151;phyloP20way_mammalian=-0.971;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=2.442;GDI_full_10282015=.;dpsi_max_tissue=-0.1300;dpsi_zscore=-0.533;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0297;gnomAD_exome_AFR=0.0060;gnomAD_exome_AMR=0.0120;gnomAD_exome_ASJ=0.0132;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.0267;gnomAD_exome_NFE=0.0366;gnomAD_exome_OTH=0.0234;gnomAD_exome_SAS=0.0687;gnomAD_genome_ALL=0.0246;gnomAD_genome_AFR=0.0055;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0278;gnomAD_genome_NFE=0.0372;gnomAD_genome_OTH=0.0463;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-190.807,0,-242.951:346:164:163:4022:4696 . . . . . . . . . . . . 0/1:-221.331,0,-308.905:427:206:191:4663:5969 . . . . . . . . . 0/1:-218.62,0,-329.294:408:201:180:4465:6086 . . . . . . . . . . . . . . 0/1:-150.085,0,-194.11:299:145:135:3329:4150 0/1:-185.312,0,-200.463:313:147:151:3824:4263 . . . . . . . . . . . . . . . . 0/1:-236.138,0,-377.393:479:245:202:5033:7032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228559654 . G A 1142.70 . AB=0.438746;ABP=14.4492;AC=8;AF=0.5;AN=16;AO=154;CIGAR=1X;DP=2362;DPB=351;DPRA=0;EPP=64.4319;EPPR=50.8294;GTI=0;LEN=1;MEANALT=3;MQM=26.5;MQMR=26.6935;NS=1;NUMALT=1;ODDS=387.433;PAIRED=0.74026;PAIREDR=0.784946;PAO=0;PQA=0;PQR=0;PRO=0;QA=4691;QR=5599;RO=186;RPL=95;RPP=21.2845;RPPR=53.8648;RPR=59;RUN=1;SAF=21;SAP=179.887;SAR=133;SF=0,1;SRF=37;SRP=149.456;SRR=149;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G21175A:p.G7059S,OBSCN:NM_001271223:exon105:c.G24046A:p.G8016S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0152;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0152;1000g2015aug_all=0.00499201;avsnp147=rs111616349;Kaviar_AF=0.0099287;Kaviar_AC=1535;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0042;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0.0094;ExAC_NFE=0.0156;ExAC_OTH=0.0046;ExAC_SAS=0.0047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.066;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=0.17;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.249;CADD_raw=1.765;CADD_phred=14.78;DANN_score=0.396;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.041;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=1.52;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.082;phastCons7way_vertebrate=0.086;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=8.478;GDI_full_10282015=.;dpsi_max_tissue=0.0658;dpsi_zscore=0.365;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0105;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0067;gnomAD_exome_ASJ=0.0401;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0078;gnomAD_exome_NFE=0.0137;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0050;gnomAD_genome_ALL=0.0079;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0112;gnomAD_genome_OTH=0.0113;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-203.546,0,-258.386:351:186:154:4691:5599 . . . . . . . . . . . . . . . . . 0/1:-116.083,0,-254.017:277:161:101:3049:4922 . . . . . 0/1:-179.732,0,-285.547:362:215:136:4112:6441 . . . . . . . . 0/1:-138.313,0,-315:353:207:130:3806:6139 . . . . . . 0/1:-62.2741,0,-197.862:205:129:64:1888:3951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-115.892,0,-265.384:310:185:112:3268:5623 . . . . . . . . . . . . . . . . . . . 0/1:-212.645,0,-289.657:271:150:115:3713:4661:150,115 . . . . . . . 0/1:-165.6,0,-263.913:233:134:96:3009:4227:134,96 . . chr1 228559957 . G A 2579.73 . AB=0.403481;ABP=54.1498;AC=1;AF=0.5;AN=2;AO=255;CIGAR=1X;DP=632;DPB=632;DPRA=0;EPP=6.08442;EPPR=3.32983;GTI=0;LEN=1;MEANALT=3;MQM=28.3961;MQMR=28.6817;NS=1;NUMALT=1;ODDS=594.005;PAIRED=0.878431;PAIREDR=0.876877;PAO=0;PQA=0;PQR=0;PRO=0;QA=6520;QR=10334;RO=333;RPL=99;RPP=30.6774;RPPR=22.7361;RPR=156;RUN=1;SAF=128;SAP=3.01882;SAR=127;SF=0;SRF=198;SRP=28.8919;SRR=135;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G21478A:p.D7160N,OBSCN:NM_001271223:exon105:c.G24349A:p.D8117N;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs374126368;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=6.753e-05;ExAC_AFR=0;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.692e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=0.804;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.082;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-0.0;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_pred=N;VEST3_score=0.056;CADD_raw=2.980;CADD_phred=22.2;DANN_score=0.953;fathmm-MKL_coding_score=0.151;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.028;MetaSVM_pred=T;MetaLR_score=0.078;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=3.04;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.991;phastCons7way_vertebrate=0.006;phastCons20way_mammalian=0.007;SiPhy_29way_logOdds=9.271;GDI_full_10282015=.;dpsi_max_tissue=-0.1901;dpsi_zscore=-0.667;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.525e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.465e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.675e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-270.698,0,-522.455:632:333:255:6520:10334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228559966 . CC CT 3838.20 . AB=0.428298;ABP=26.365;AC=1;AF=0.5;AN=2;AO=224;CIGAR=1M1X;DP=523;DPB=528.5;DPRA=0;EPP=3.16541;EPPR=3.20915;GTI=0;LEN=1;MEANALT=6;MQM=36.7634;MQMR=36.1136;NS=1;NUMALT=1;ODDS=883.779;PAIRED=0.946429;PAIREDR=0.941392;PAO=5.5;PQA=156.5;PQR=156.5;PRO=5.5;QA=6734;QR=8341;RO=273;RPL=87;RPP=27.2455;RPPR=32.6075;RPR=137;RUN=1;SAF=141;SAP=35.6212;SAR=83;SF=1;SRF=167;SRP=32.6075;SRR=106;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon94:c.21488delC:p.P7163fs,OBSCN:NM_001271223:exon105:c.24359delC:p.P8120fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-396.546,0,-519.173:523:273:224:6734:8341:273,224 . . . . . . . . chr1 228559967 . C T 4783.99 . AB=0.451661;ABP=30.5119;AC=5;AF=0.5;AN=10;AO=612;CIGAR=1X;DP=4115;DPB=1355;DPRA=0;EPP=34.3618;EPPR=11.1128;GTI=0;LEN=1;MEANALT=3;MQM=27.1928;MQMR=28.8866;NS=1;NUMALT=1;ODDS=1741.16;PAIRED=0.916667;PAIREDR=0.91194;PAO=0;PQA=0;PQR=0;PRO=0;QA=17198;QR=19690;RO=670;RPL=275;RPP=16.6494;RPPR=25.8788;RPR=337;RUN=1;SAF=358;SAP=41.3872;SAR=254;SF=0;SRF=387;SRP=38.065;SRR=283;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21488T:p.P7163L,OBSCN:NM_001271223:exon105:c.C24359T:p.P8120L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0102;esp6500siv2_ea=0.0136;esp6500siv2_all=0.0102;esp6500siv2_ea=0.0136;1000g2015aug_all=0.00499201;avsnp147=rs72762066;Kaviar_AF=0.0090102;Kaviar_AC=1393;Kaviar_AN=154602;ExAC_ALL=0.0214;ExAC_AFR=0.0049;ExAC_AMR=0.0364;ExAC_EAS=0;ExAC_FIN=0.0036;ExAC_NFE=0.0326;ExAC_OTH=0.0458;ExAC_SAS=0.0072;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.906;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.42;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.07;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_pred=D;VEST3_score=0.209;CADD_raw=2.939;CADD_phred=22.0;DANN_score=0.978;fathmm-MKL_coding_score=0.097;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.820;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.19;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=11.890;GDI_full_10282015=.;dpsi_max_tissue=-0.2745;dpsi_zscore=-0.815;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0114;gnomAD_exome_AFR=0.0019;gnomAD_exome_AMR=0.0120;gnomAD_exome_ASJ=0.0461;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0192;gnomAD_exome_SAS=0.0066;gnomAD_genome_ALL=0.0074;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0110;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-773.228,0,-966.512:1355:670:612:17198:19690 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-367.373,0,-451.865:631:307:286:8227:9031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-453.472,0,-465.719:722:332:350:9948:9948 . . . . . . . . . 0/1:-411.92,0,-479.411:684:327:322:8903:9664 . 0/1:-454.318,0,-469.272:723:329:348:9660:9436 . . . . . . . . . . . . . . . . . . . . . chr1 228559994 . CGA TGA 6005.10 . AB=0.477912;ABP=5.12073;AC=126;AF=0.5;AN=186;AO=238;CIGAR=1X;DP=61963;DPB=498;DPRA=0;EPP=3.33876;EPPR=3.16967;GTI=0;LEN=1;MEANALT=3;MQM=28.979;MQMR=31.6835;NS=1;NUMALT=1;ODDS=657.182;PAIRED=0.89916;PAIREDR=0.93578;PAO=0;PQA=0;PQR=0;PRO=0;QA=6001;QR=6547;RO=218;RPL=101;RPP=14.8348;RPPR=22.2946;RPR=137;RUN=1;SAF=139;SAP=17.6084;SAR=99;SF=0,1;SRF=118;SRP=6.23763;SRR=100;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21515T:p.A7172V,OBSCN:NM_001271223:exon105:c.C24386T:p.A8129V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.5550;esp6500siv2_ea=0.5033;esp6500siv2_all=0.5550;esp6500siv2_ea=0.5033;1000g2015aug_all=0.589058;avsnp147=rs500049;Kaviar_AF=0.457226;Kaviar_AC=70688;Kaviar_AN=154602;ExAC_ALL=0.6192;ExAC_AFR=0.7076;ExAC_AMR=0.5245;ExAC_EAS=0.6578;ExAC_FIN=0.6214;ExAC_NFE=0.5975;ExAC_OTH=0.5802;ExAC_SAS=0.6561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.0;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_pred=N;VEST3_score=0.216;CADD_raw=2.792;CADD_phred=21.3;DANN_score=0.952;fathmm-MKL_coding_score=0.269;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.948;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=3.71;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.317;SiPhy_29way_logOdds=11.612;GDI_full_10282015=.;dpsi_max_tissue=0.1067;dpsi_zscore=0.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5171;gnomAD_exome_AFR=0.6595;gnomAD_exome_AMR=0.3581;gnomAD_exome_ASJ=0.5071;gnomAD_exome_EAS=0.5798;gnomAD_exome_FIN=0.4912;gnomAD_exome_NFE=0.5120;gnomAD_exome_OTH=0.5032;gnomAD_exome_SAS=0.6395;gnomAD_genome_ALL=0.5371;gnomAD_genome_AFR=0.6375;gnomAD_genome_AMR=0.3556;gnomAD_genome_ASJ=0.5099;gnomAD_genome_EAS=0.5743;gnomAD_genome_FIN=0.4837;gnomAD_genome_NFE=0.4981;gnomAD_genome_OTH=0.5326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-342.673:498:218:238:6001:6547 1/1:.,.,0:816:27:697:17390:492 . 0/1:.,.,-305.928:441:212:190:4602:6168 0/1:.,.,-551.579:726:364:299:7409:10784 1/1:.,.,0:939:29:794:19928:507 0/1:.,.,-432.42:567:272:245:6007:8371 . 1/1:.,.,0:615:22:528:13200:395 . 0/1:.,.,-456.568:598:305:253:6367:9056 . . 0/1:.,.,-405.149:548:269:241:5909:8164 1/1:.,.,0:550:15:477:11767:258 1/1:.,.,0:998:21:859:22190:408 . 1/1:.,.,0:1559:38:1321:34061:616 0/1:.,.,-452.519:609:283:265:6463:8566 1/1:.,.,0:441:16:371:9127:294 . 1/1:.,.,0:704:25:586:14951:491 1/1:.,.,0:362:14:308:7483:231 0/1:.,.,-594.628:832:386:385:9759:11675 0/1:.,.,-562.8:763:364:335:8369:10888 . 0/1:.,.,-569.568:773:376:341:8447:11164 1/1:.,.,0:571:23:480:11805:397 0/1:.,.,-301.962:429:209:177:4159:6252 0/1:.,.,-435.739:622:282:289:7214:8720 1/1:.,.,0:539:17:450:11332:340 0/1:.,.,-549.211:761:358:354:8837:10816 1/1:.,.,0:765:25:663:16682:434 0/1:.,.,-684.509:852:442:357:8889:13165 0/1:.,.,-508.664:624:295:279:6772:9095 . 0/1:.,.,-788.356:1074:505:475:11566:15372 0/1:.,.,-317.222:459:195:213:5087:6135 . 0/1:.,.,-392.765:580:271:268:6715:8027 . 1/1:.,.,0:795:24:662:16502:518 1/1:.,.,0:710:24:602:14959:416 0/1:.,.,-451.676:606:289:273:6895:8777 0/1:.,.,-520.498:715:341:321:7978:10448 1/1:.,.,0:729:27:624:15753:576 . 0/1:.,.,-290.49:396:192:166:4181:5845 1/1:.,.,0:570:14:487:12371:275 1/1:.,.,0:877:30:735:17911:513 . 0/1:.,.,-446.466:618:301:266:6566:8971 0/1:.,.,-538.27:761:356:348:8806:10983 . 0/1:.,.,-310.656:480:207:241:5788:6321 1/1:.,.,0:510:14:436:10853:240 1/1:.,.,0:802:17:681:17045:388 0/1:.,.,-221.356:364:167:165:4094:4919 0/1:.,.,-310.471:503:234:236:5566:6915 0/1:.,.,-552.602:801:374:376:8917:11409 1/1:.,.,0:415:13:352:8618:213 0/1:.,.,-577.933:854:387:397:9399:11668 0/1:.,.,-582.468:737:377:320:7757:11514 1/1:.,.,0:427:14:365:9336:271 . . 1/1:.,.,0:314:13:273:6902:215 0/1:.,.,-462.416:652:300:294:7344:9208 0/1:.,.,-483.098:718:323:333:8084:9762 0/1:.,.,-507.825:778:345:369:9354:10282 . 0/1:.,.,-694.501:829:416:352:8596:12941 0/1:.,.,-495.047:711:318:349:8687:9278 1/1:.,.,0:417:10:358:8943:180 1/1:.,.,0:497:20:408:10166:417 1/1:.,.,0:1004:36:844:20736:773 0/1:.,.,-658.109:846:426:349:8730:12632 0/1:.,.,-574.346:744:368:332:8152:11164 0/1:.,.,-367.553:461:237:183:4522:7162 0/1:.,.,-318.784:394:200:166:3896:6090 1/1:.,.,0:612:19:524:12998:348 0/1:.,.,-638.201:741:389:307:7663:12073 0/1:.,.,-535.452:826:373:392:9955:11379 . 0/1:.,.,-411.091:592:280:262:6549:8541 . 0/1:.,.,-356.061:453:233:195:4812:7088 . 0/1:.,.,-240.104:395:167:202:5112:4887 0/1:.,.,-392.828:566:267:261:6381:8209 0/1:.,.,-596.565:806:368:377:9443:11391 0/1:.,.,-530.776:648:326:270:6746:9947 0/1:.,.,-577.023:769:365:340:8354:11102 1/1:.,.,0:847:22:717:18063:445 0/1:.,.,-609.393:840:400:383:9463:12070 . 0/1:.,.,-700.601:826:363:423:12074:11282:363,423 0/1:.,.,-630.868:707:322:357:10018:10137:322,357 0/1:.,.,-638.979:712:325:355:9887:10251:325,355 0/1:.,.,-560.846:541:266:252:7128:8638:266,252 1/1:.,.,0:626:7:575:16037:98:7,575 . 1/1:-1242.59,-145.324,0:670:11:538:14646:266:11,538 0/1:.,.,-646.392:725:314:384:10829:10276:314,384 0/1:.,.,-597.958:622:286:314:8672:9246:286,314 0/1:.,.,-768.764:744:372:341:9305:11762:372,341 0/1:.,.,-752.81:780:375:373:10598:11705:375,373 1/1:.,.,0:659:13:604:16706:218:13,604 1/1:.,.,0:699:16:640:17587:317:16,640 0/1:.,.,-554.417:571:272:272:7568:8656:272,272 0/1:.,.,-551.051:730:287:408:11356:9071:287,408 . 1/1:-1315.11,-160.384,0:698:9:577:15430:220:9,577 0/1:.,.,-650.088:577:302:253:7437:9875:302,253 1/1:.,.,0:578:9:534:15058:179:9,534 0/1:.,.,-693.486:753:345:376:10624:11019:345,376 chr1 228560137 . TCA TCG,GCA 6729.21 . AB=0;ABP=0;AC=8,0;AF=0;AN=38;AO=87;CIGAR=1X;DP=21364;DPB=1362;DPRA=0;EPP=150.995;EPPR=58.9369;GTI=0;LEN=1;MEANALT=3;MQM=32.0575;MQMR=37.7154;NS=1;NUMALT=1;ODDS=1271.13;PAIRED=0.873563;PAIREDR=0.917329;PAO=0;PQA=0;PQR=0;PRO=0;QA=2074;QR=35818;RO=1258;RPL=12;RPP=102.074;RPPR=231.716;RPR=75;RUN=1;SAF=9;SAP=121.842;SAR=78;SF=1;SRF=692;SRP=30.4144;SRR=566;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon94:c.21660delA:p.S7220fs,OBSCN:NM_001271223:exon105:c.24531delA:p.S8177fs\x3bOBSCN:NM_001098623:exon94:c.21660delA:p.S7220fs,OBSCN:NM_001271223:exon105:c.24531delA:p.S8177fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T21658G:p.S7220A,OBSCN:NM_001271223:exon105:c.T24529G:p.S8177A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.043;SIFT_pred=D;Polyphen2_HDIV_score=0.787;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.284;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.03;FATHMM_pred=T;PROVEAN_score=-1.17;PROVEAN_pred=N;VEST3_score=0.242;CADD_raw=2.951;CADD_phred=22.1;DANN_score=0.902;fathmm-MKL_coding_score=0.116;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.993;MetaSVM_pred=T;MetaLR_score=0.131;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.914;SiPhy_29way_logOdds=8.371;GDI_full_10282015=.;dpsi_max_tissue=-0.1558;dpsi_zscore=-0.594;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-2798.22:1362:1258:.,87:.,2074:35818:1258,87 0/0:.,.,.,.,.,-2512.85:1195:1102:.,81:.,1903:32089:1102,81 0/0:.,.,.,.,.,-2429.91:1151:1069:.,75:.,1842:31404:1069,75 1/1:-2069.24,-250.824,0,.,.,.:952:1:829,.:25267,.:16:1,829 0/0:.,.,.,.,.,-2145.33:1041:962:.,68:.,1645:27743:962,68 0/0:.,.,.,.,.,-2837.06:1337:1249:.,79:.,1403:35854:1249,79 0/0:.,.,.,.,.,-2334.98:1110:1030:.,66:.,1609:29829:1030,66 0/0:.,.,.,.,.,-2437.79:1216:1134:.,70:.,1782:31845:1134,70 . 0/0:.,.,.,.,.,-2573.73:1238:1156:.,72:.,1752:33406:1156,72 0/0:.,.,.,.,.,-2752.6:1307:1224:.,70:.,1578:34859:1224,70 0/0:.,.,.,.,.,-1831.78:888:822:.,59:.,1466:23752:822,59 0/0:.,.,.,.,.,-2300.88:1103:1027:.,70:.,1671:29756:1027,70 1/1:-2119.53,-253.166,0,.,.,.:953:0:841,.:25758,.:0:0,841 0/0:.,.,.,.,.,-2507.6:1212:1123:.,80:.,1747:32023:1123,80 0/0:.,.,.,.,.,-2260.04:1084:1019:.,59:.,1168:28801:1019,59 1/1:-2531.59,-302.695,0,.,.,.:1125:3:1006,.:31044,.:80:3,1006 1/1:-2138.56,-251.856,0,.,.,.:937:1:840,.:25886,.:26:1,840 0/0:.,.,.,.,.,-1787.86:853:796:.,50:.,1195:22932:796,50 0/0:.,.,.,.,.,-2642.14:1300:1206:.,80:.,1997:34384:1206,80 chr1 228560138 . CA CG 26748.05 . AB=0;ABP=0;AC=22;AF=1;AN=22;AO=1297;CIGAR=1M1X;DP=12315;DPB=1350;DPRA=0;EPP=105.153;EPPR=3.73412;GTI=0;LEN=1;MEANALT=7;MQM=37.569;MQMR=35.6667;NS=1;NUMALT=1;ODDS=1789.38;PAIRED=0.915189;PAIREDR=0.666667;PAO=5;PQA=156.5;PQR=156.5;PRO=5;QA=39542;QR=77;RO=3;RPL=427;RPP=331.576;RPPR=3.73412;RPR=870;RUN=1;SAF=672;SAP=6.70867;SAR=625;SF=1;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon94:c.21660delA:p.S7220fs,OBSCN:NM_001271223:exon105:c.24531delA:p.S8177fs\x3bOBSCN:NM_001098623:exon94:c.21660delA:p.S7220fs,OBSCN:NM_001271223:exon105:c.24531delA:p.S8177fs;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3273.93,-391.066,0:1345:3:1297:39542:77:3,1297 1/1:-2943.55,-346.171,0:1192:3:1158:35463:88:3,1158 1/1:-2786.23,-337.067,0:1135:2:1092:33801:31:2,1092 . 1/1:-2498.07,-304.996,0:1025:1:998:30374:29:1,998 . 1/1:-2731.28,-320.327,0:1102:4:1074:33158:87:4,1074 1/1:-2872.64,-343.949,0:1205:4:1151:35094:102:4,1151 . 1/1:-2932.08,-354.016,0:1225:5:1181:36053:128:5,1181 . 1/1:-2134.76,-263.1,0:874:0:848:26110:0:0,848 1/1:-2608.26,-309.54,0:1087:5:1047:31891:155:5,1047 . . . . . 1/1:-2066.02,-249.998,0:841:2:815:25092:43:2,815 1/1:-3066.84,-369.671,0:1284:5:1238:37584:122:5,1238 chr1 228560139 . A G 13516.40 . AB=0;ABP=0;AC=179;AF=1;AN=196;AO=634;CIGAR=1X;DP=89663;DPB=662;DPRA=0;EPP=111.529;EPPR=22.5536;GTI=0;LEN=1;MEANALT=3;MQM=25.4401;MQMR=17.6667;NS=1;NUMALT=1;ODDS=833.033;PAIRED=0.894322;PAIREDR=0.444444;PAO=0;PQA=0;PQR=0;PRO=0;QA=17193;QR=184;RO=9;RPL=210;RPP=159.863;RPPR=5.18177;RPR=424;RUN=1;SAF=320;SAP=3.1336;SAR=314;SF=0,1;SRF=3;SRP=5.18177;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A21660G:p.S7220S,OBSCN:NM_001271223:exon105:c.A24531G:p.S8177S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.9449;esp6500siv2_ea=0.9259;esp6500siv2_all=0.9449;esp6500siv2_ea=0.9259;1000g2015aug_all=0.974241;avsnp147=rs498382;Kaviar_AF=0.816445;Kaviar_AC=126224;Kaviar_AN=154602;ExAC_ALL=0.9502;ExAC_AFR=0.9863;ExAC_AMR=0.9606;ExAC_EAS=1;ExAC_FIN=0.8924;ExAC_NFE=0.9239;ExAC_OTH=0.9512;ExAC_SAS=0.9881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4090;dpsi_zscore=1.032;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9435;gnomAD_exome_AFR=0.9862;gnomAD_exome_AMR=0.9593;gnomAD_exome_ASJ=0.9300;gnomAD_exome_EAS=0.9998;gnomAD_exome_FIN=0.8939;gnomAD_exome_NFE=0.9205;gnomAD_exome_OTH=0.9375;gnomAD_exome_SAS=0.9890;gnomAD_genome_ALL=0.9416;gnomAD_genome_AFR=0.9855;gnomAD_genome_AMR=0.9618;gnomAD_genome_ASJ=0.9233;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.8966;gnomAD_genome_NFE=0.9202;gnomAD_genome_OTH=0.9293;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1103.08,-182.329,0:662:9:634:17193:184 1/1:-1700.52,-293.018,0:1044:11:999:26744:242 1/1:-1465.49,-241.95,0:868:9:831:22515:180 0/1:-303.382,0,-350.988:575:265:275:7316:7372 1/1:-1456.79,-242.78,0:848:4:816:22010:69 1/1:-2167.73,-361.363,0:1270:10:1216:32708:200 1/1:-1296.16,-212.745,0:755:9:729:19863:181 1/1:-1897.87,-324.054,0:1133:7:1093:28799:111 1/1:-1471.26,-245.61,0:848:4:825:22011:56 1/1:-1416.83,-239.228,0:866:9:835:22231:243 1/1:-1313.51,-223.084,0:793:9:757:20394:140 1/1:-1583.43,-261.715,0:915:5:881:23981:127 0/1:-438.604,0,-519.205:850:403:396:10420:10996 0/1:-278.522,0,-437.129:688:354:292:7694:9602 1/1:-1245.34,-200.962,0:708:4:688:18565:85 1/1:-2209.17,-363.277,0:1264:8:1219:33109:179 1/1:-936.376,-164.102,0:574:3:563:14582:95 1/1:-3528.72,-572.592,0:2013:18:1944:52891:350 1/1:-1525.73,-247.87,0:858:6:833:22588:97 1/1:-918.919,-166.169,0:572:0:552:14726:0 0/1:-406.373,0,-501.054:756:366:333:9371:10050 1/1:-1652.69,-277.32,0:977:8:938:25255:183 1/1:-780.925,-140.139,0:485:2:468:12625:35 1/1:-2129.28,-350.945,0:1209:8:1181:32361:119 1/1:-1875.78,-315.874,0:1092:9:1058:28492:193 1/1:-1200.69,-209.115,0:716:1:696:18397:21 1/1:-1718.83,-288.687,0:998:5:972:26292:110 1/1:-1436.3,-228.853,0:832:13:808:22332:268 1/1:-1032.39,-190.918,0:666:5:647:16845:84 1/1:-1382.17,-228.092,0:809:7:780:20739:142 1/1:-1281.95,-212.354,0:753:7:726:19698:142 1/1:-1769.53,-283.571,0:1026:14:981:26594:254 1/1:-1728.92,-300.64,0:1034:2:1004:26844:41 1/1:-2145.86,-352.553,0:1235:9:1199:32472:184 0/1:-502.439,0,-517.195:841:390:397:10969:10569 0/1:-578.576,0,-745.535:1115:546:494:13153:15243 0/1:-885.846,0,-898.563:1540:698:739:19591:19073 1/1:-1094.47,-186.365,0:642:5:623:17285:84 1/1:-1449.39,-238.392,0:868:12:830:21908:225 1/1:-1274.7,-211.794,0:736:3:709:19158:84 0/1:-553.044,0,-690.149:1006:476:470:12673:13483 1/1:-1861.36,-308.368,0:1092:8:1050:28029:166 1/1:-1625.05,-271.704,0:952:7:912:24688:111 1/1:-1483.56,-244.262,0:861:6:834:22859:141 1/1:-1714.72,-280.278,0:977:6:946:26016:137 1/1:-1528.98,-253.857,0:887:9:855:22642:146 0/1:-514.522,0,-622.907:949:451:438:11530:12559 1/1:-1004.1,-163.636,0:576:5:551:15067:83 1/1:-1207.84,-195.411,0:712:8:677:18342:172 0/1:-612.931,0,-599.231:1021:472:493:13612:13001 1/1:-1954.15,-312.789,0:1094:6:1060:28443:115 1/1:-1171.49,-225.096,0:785:5:753:19549:83 1/1:-1648.43,-282.884,0:979:5:949:25498:99 . 1/1:-914.382,-166.196,0:587:4:559:14395:81 1/1:-1198.39,-195.34,0:683:6:656:17807:104 1/1:-1680.91,-275.12,0:974:8:936:25449:141 1/1:-956.596,-168.287,0:575:4:561:14940:63 1/1:-1296.39,-213.874,0:732:2:713:18956:46 1/1:-2094.18,-348.006,0:1201:2:1162:30978:50 1/1:-834.668,-150.979,0:535:1:507:13187:27 1/1:-1903.86,-332.473,0:1177:18:1128:30316:302 1/1:-1747.65,-281.869,0:981:7:952:25981:157 1/1:-757.73,-139.113,0:481:2:465:12181:28 1/1:-1853.17,-318.717,0:1100:11:1069:29041:228 1/1:-1779.5,-287.596,0:1011:12:984:26327:217 1/1:-743.589,-129.317,0:482:9:451:11887:209 1/1:-1432.59,-238.33,0:835:5:808:21664:99 1/1:-1633.27,-269.784,0:943:7:909:24330:111 1/1:-1769.85,-286.17,0:1033:12:997:27041:268 1/1:-1697.1,-273.793,0:962:6:929:25417:117 1/1:-2106.8,-341.746,0:1195:7:1153:31330:130 0/1:-536.888,0,-664.625:1050:507:489:13039:13590 1/1:-753.846,-155.584,0:546:4:526:13088:74 1/1:-1308.74,-218.449,0:762:5:740:20152:105 0/1:-746.234,0,-738.302:1280:594:612:16357:15892 1/1:-1889.38,-309.734,0:1109:12:1056:28975:263 0/1:-569.368,0,-658.185:1062:505:497:13007:13578 1/1:-1092.5,-181.929,0:650:6:630:16821:137 1/1:-798.179,-127.576,0:495:11:467:12524:271 1/1:-1608.3,-274.974,0:974:10:939:24841:213 1/1:-1939.46,-320.818,0:1156:14:1114:29513:346 1/1:-1968.95,-336.373,0:1169:4:1126:29494:100 1/1:-1503,-251.763,0:875:4:858:22469:135 1/1:-1574.76,-266.848,0:923:4:892:23818:78 0/1:-499.753,0,-664.853:979:504:421:11427:13812 1/1:-1060.06,-167.035,0:627:9:603:16458:267 1/1:-1981.72,-319.625,0:1115:8:1078:29725:119 1/1:-973.125,-165.125,0:561:2:551:14861:35 1/1:-1283.28,-204.009,0:729:8:703:19271:201 1/1:-1778.39,-292.402,0:1051:11:1010:27377:219 1/1:-1683.46,-277.7,0:977:8:951:25124:177 1/1:-1777.53,-289.286,0:1036:14:992:26807:241 1/1:-1713.71,-292.561,0:1031:5:990:26598:99 1/1:-1808.89,-302.19,0:1088:12:1043:28101:238 . . . . . . . . . 1/1:-2596.52,-307.021,0:1049:2:1026:31349:28:2,1026 . 0/1:-1182.47,0,-1203.81:1288:637:626:18886:18928:637,626 . . . 0/1:-997.948,0,-1249.91:1205:626:548:16475:19210:626,548 0/1:-978.097,0,-952.608:1064:523:519:15679:15433:523,519 . . . . chr1 228560447 . T C 9531.68 . AB=0.455034;ABP=29.1787;AC=1;AF=0.5;AN=2;AO=678;CIGAR=1X;DP=1490;DPB=1490;DPRA=0;EPP=5.17537;EPPR=27.433;GTI=0;LEN=1;MEANALT=3;MQM=31.6195;MQMR=34.6775;NS=1;NUMALT=1;ODDS=2194.75;PAIRED=0.896755;PAIREDR=0.893368;PAO=0;PQA=0;PQR=0;PRO=0;QA=18744;QR=23265;RO=769;RPL=286;RPP=38.9965;RPPR=25.3773;RPR=392;RUN=1;SAF=368;SAP=13.7844;SAR=310;SF=0;SRF=451;SRP=52.9598;SRR=318;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T21968C:p.M7323T,OBSCN:NM_001271223:exon105:c.T24839C:p.M8280T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs369126766;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.686e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.965e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.956;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.444;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.944;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-0.28;FATHMM_pred=T;PROVEAN_score=-2.88;PROVEAN_pred=D;VEST3_score=0.554;CADD_raw=3.513;CADD_phred=23.1;DANN_score=0.814;fathmm-MKL_coding_score=0.892;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.757;MetaSVM_pred=T;MetaLR_score=0.210;MetaLR_pred=T;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=5.31;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.011;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.830;GDI_full_10282015=.;dpsi_max_tissue=0.4897;dpsi_zscore=1.122;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.861e-05;gnomAD_exome_AFR=6.609e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.412e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-967.532,0,-1373.8:1490:769:678:18744:23265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228560592 . A G 11929.30 . AB=0.486962;ABP=5.44514;AC=1;AF=0.5;AN=2;AO=803;CIGAR=1X;DP=1649;DPB=1649;DPRA=0;EPP=29.5142;EPPR=62.9677;GTI=0;LEN=1;MEANALT=3;MQM=30.3998;MQMR=32.5583;NS=1;NUMALT=1;ODDS=2617.64;PAIRED=0.926526;PAIREDR=0.90544;PAO=0;PQA=0;PQR=0;PRO=0;QA=23139;QR=21771;RO=772;RPL=311;RPP=91.6026;RPPR=127.054;RPR=492;RUN=1;SAF=394;SAP=3.61874;SAR=409;SF=0;SRF=402;SRP=5.89059;SRR=370;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A22113G:p.S7371S,OBSCN:NM_001271223:exon105:c.A24984G:p.S8328S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=0.000199681;avsnp147=rs370699889;Kaviar_AF=0.000511;Kaviar_AC=79;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0001;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0039;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4058;dpsi_zscore=1.029;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.715e-05;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0045;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.47e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.678e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1213.05,0,-1164.14:1649:772:803:23139:21771 . . . . . . . . . . . . . . . . . . . . . chr1 228560700 . T C 19226.38 . AB=0.523033;ABP=7.81171;AC=160;AF=0.5;AN=208;AO=545;CIGAR=1X;DP=140686;DPB=1042;DPRA=0;EPP=13.3736;EPPR=6.39259;GTI=0;LEN=1;MEANALT=3;MQM=30.6532;MQMR=33.6106;NS=1;NUMALT=1;ODDS=1223.02;PAIRED=0.93211;PAIREDR=0.900922;PAO=0;PQA=0;PQR=0;PRO=0;QA=14581;QR=11010;RO=434;RPL=338;RPP=71.3858;RPPR=84.9859;RPR=207;RUN=1;SAF=245;SAP=15.063;SAR=300;SF=0,1;SRF=175;SRP=38.3142;SRR=259;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6535;esp6500siv2_ea=0.5485;esp6500siv2_all=0.6535;esp6500siv2_ea=0.5485;1000g2015aug_all=0.757987;avsnp147=rs512253;Kaviar_AF=0.559029;Kaviar_AC=86427;Kaviar_AN=154602;ExAC_ALL=0.6317;ExAC_AFR=0.8887;ExAC_AMR=0.6755;ExAC_EAS=0.7978;ExAC_FIN=0.5118;ExAC_NFE=0.5550;ExAC_OTH=0.648;ExAC_SAS=0.7625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.7089;dpsi_zscore=2.546;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6322;gnomAD_exome_AFR=0.8877;gnomAD_exome_AMR=0.6671;gnomAD_exome_ASJ=0.6456;gnomAD_exome_EAS=0.8000;gnomAD_exome_FIN=0.5089;gnomAD_exome_NFE=0.5490;gnomAD_exome_OTH=0.6110;gnomAD_exome_SAS=0.7576;gnomAD_genome_ALL=0.6472;gnomAD_genome_AFR=0.8718;gnomAD_genome_AMR=0.6411;gnomAD_genome_ASJ=0.6523;gnomAD_genome_EAS=0.8073;gnomAD_genome_FIN=0.5069;gnomAD_genome_NFE=0.5350;gnomAD_genome_OTH=0.6006;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-772.867,0,-553.218:1042:434:545:14581:11010 1/1:-2851.82,-410.991,0:1520:23:1455:39383:481 . 0/1:-522.148,0,-538.703:802:370:386:10192:9843 0/1:-1013.07,0,-756.533:1329:557:684:18638:15027 1/1:-3407.61,-486.949,0:1776:22:1710:46619:536 1/1:-2187.71,-319.996,0:1154:12:1116:30372:357 0/1:-1166.46,0,-793.771:1460:616:769:21171:16505 0/1:-803.681,0,-776.296:1229:556:580:15444:14667 . 0/1:-896.273,0,-678.551:1214:501:636:17457:13273 0/1:-914.812,0,-692.954:1245:529:631:17456:13785 0/1:-822.852,0,-796.738:1257:588:605:16442:15260 0/1:-774.71,0,-597.168:1120:497:553:14913:12455 1/1:-1983.01,-285.422,0:1033:10:993:27215:246 1/1:-3540.16,-509.227,0:1803:9:1742:48058:241 . 1/1:-5655.67,-816.631,0:2925:26:2829:76339:632 0/1:-928.461,0,-635.296:1155:481:593:16527:12385 1/1:-1943.23,-279.545,0:985:8:963:26309:203 . 1/1:-2730.37,-399.992,0:1408:9:1359:37383:186 1/1:-1611.35,-228.465,0:836:7:801:21705:206 1/1:-3290.24,-463.995,0:1684:17:1616:44698:421 1/1:-3125.4,-460.019,0:1642:10:1590:43005:312 0/1:-774.319,0,-558.7:1060:448:547:14981:11345 1/1:-2717.39,-367.512,0:1387:18:1330:37122:498 1/1:-2402.86,-343.602,0:1220:10:1183:32211:277 1/1:-2147.26,-320.166,0:1120:8:1091:29554:187 0/1:-865.946,0,-655.717:1134:499:567:15869:13064 1/1:-1971.92,-291.736,0:1017:9:979:27068:151 1/1:-2885.16,-422.881,0:1502:13:1448:39465:301 1/1:-2738.07,-389.847,0:1412:16:1362:37442:357 0/1:-1095.99,0,-841.737:1525:668:763:20967:17203 0/1:-875.081,0,-761.355:1201:550:584:16109:14334 . 0/1:-1303.2,0,-1043.93:1788:785:887:24611:20465 0/1:-888.741,0,-820.015:1243:585:606:16732:15454 1/1:-2672.66,-378.787,0:1395:16:1352:36894:442 0/1:-684.521,0,-582.878:988:438:489:12787:11632 0/1:-1084.15,0,-940.312:1504:675:741:20665:17626 1/1:-2541.82,-372.992,0:1346:12:1290:35491:307 1/1:-2486.43,-362.064,0:1293:11:1246:33624:229 1/1:-2597.02,-369.322,0:1347:15:1293:35531:342 0/1:-1098.56,0,-911.155:1521:670:765:20732:17795 1/1:-2715.63,-388.889,0:1389:14:1344:37407:348 0/1:-946.253,0,-952.252:1439:680:668:18167:17598 1/1:-1558.85,-225.316,0:792:6:771:20993:115 1/1:-1905.77,-265.499,0:977:17:940:25820:364 1/1:-3033.93,-430.899,0:1545:16:1488:41029:355 0/1:-1131.57,0,-838.341:1486:651:747:20593:17023 0/1:-841.811,0,-767.301:1285:596:617:16464:15155 1/1:-3161.65,-441.81,0:1584:16:1525:42118:373 . 0/1:-631.967,0,-620.705:1036:499:488:12924:12468 1/1:-1818.95,-273.11,0:974:10:941:24939:237 1/1:-2957.51,-431.477,0:1506:11:1458:39687:212 1/1:-1503.4,-224.024,0:804:10:778:20792:211 0/1:-614.744,0,-541.561:924:403:450:12212:10460 0/1:-1125.79,0,-901.068:1537:661:775:21105:17482 1/1:-1792.62,-274.079,0:956:6:931:24905:124 0/1:-1193,0,-947.445:1683:731:843:22772:18602 1/1:-2391.97,-344.701,0:1228:12:1187:32261:281 1/1:-1921.52,-284.135,0:1008:10:969:26422:260 0/1:-1146.45,0,-999.005:1606:723:778:21191:19028 . 1/1:-1477.56,-223.768,0:796:8:770:20514:150 0/1:-845.729,0,-799.283:1287:602:605:16284:15431 1/1:-2622.96,-378.393,0:1369:10:1320:35794:263 1/1:-2853.16,-404.309,0:1493:23:1429:38826:483 0/1:-849.385,0,-734.57:1271:577:619:16544:14994 1/1:-3149.84,-439.339,0:1557:9:1511:41957:232 0/1:-1180.22,0,-937.751:1672:715:838:22362:18401 1/1:-1357.04,-212.25,0:803:15:761:20190:307 1/1:-2277.5,-337.865,0:1190:7:1158:31447:205 0/1:-1076.93,0,-1126.31:1760:855:791:21122:21605 0/1:-1043.17,0,-874.252:1510:656:733:19912:16929 0/1:-1113.88,0,-915.45:1573:700:785:21294:18114 . . 1/1:-2619.86,-392.645,0:1432:16:1379:36600:359 1/1:-2976.74,-422.236,0:1549:17:1491:40623:455 1/1:-3142.47,-449.65,0:1586:12:1542:42813:303 1/1:-2575.91,-370.924,0:1361:14:1309:35915:375 0/1:-890.992,0,-707.68:1234:544:627:16675:14054 0/1:-936.739,0,-736.142:1355:577:688:18124:14986 1/1:-1740.71,-250.175,0:876:8:847:23282:156 . 1/1:-1590.14,-231.803,0:826:9:791:21359:196 1/1:-2525.62,-345.322,0:1331:26:1264:34729:574 0/1:-1145.82,0,-1064.78:1705:799:794:21764:20857 0/1:-1004.32,0,-676.52:1314:545:673:18394:14039 0/1:-1130.61,0,-918.501:1538:680:760:20897:17455 1/1:-2762.02,-398.24,0:1470:22:1414:37718:490 0/1:-941.565,0,-914.474:1483:682:697:18732:17663 . 1/1:-4254.83,-473.077,0:1641:7:1620:50139:200:7,1620 0/1:-1608.03,0,-1289.39:1495:692:772:23834:20247:692,772 0/1:-1867.3,0,-1318.27:1656:733:886:27591:21159:733,886 1/1:-2776.48,-301.25,0:1081:9:1060:32790:245:9,1060 1/1:-3449.76,-381.87,0:1336:10:1311:40566:242:10,1311 . 1/1:-3633.79,-413.303,0:1402:1:1376:42709:14:1,1376 1/1:-4179.19,-453.32,0:1639:14:1601:49551:381:14,1601 0/1:-1355.63,0,-1214.01:1336:646:657:20451:18646:646,657 1/1:-4332.11,-476.31,0:1707:14:1663:51342:322:14,1663 0/1:-1571.65,0,-1392.93:1552:743:774:23773:21564:743,774 1/1:-2966.96,-308.974,0:1146:13:1119:35058:384:13,1119 0/1:-1256.16,0,-1344.99:1383:711:637:19566:20439:711,637 0/1:-1562.5,0,-1229.68:1444:665:749:23308:19176:665,749 0/1:-1765.24,0,-1493.74:1688:802:843:26472:23448:802,843 1/1:-4003.35,-428.51,0:1565:13:1531:47371:412:13,1531 1/1:-3998.48,-440.351,0:1573:13:1548:47350:368:13,1548 1/1:-3627.04,-401.379,0:1372:3:1355:42516:95:3,1355 0/1:-1268.15,0,-1062.71:1200:562:616:18960:16442:562,616 0/1:-1886.35,0,-1525.13:1748:825:889:28023:23860:825,889 chr1 228562031 . G A 9831.33 . AB=0.434455;ABP=67.3433;AC=2;AF=0.5;AN=4;AO=749;CIGAR=1X;DP=3118;DPB=1724;DPRA=0;EPP=3.24513;EPPR=6.85361;GTI=0;LEN=1;MEANALT=3;MQM=33.9506;MQMR=33.9834;NS=1;NUMALT=1;ODDS=2458.73;PAIRED=0.878505;PAIREDR=0.892699;PAO=0;PQA=0;PQR=0;PRO=0;QA=20254;QR=27065;RO=904;RPL=380;RPP=3.3611;RPPR=3.25051;RPR=369;RUN=1;SAF=412;SAP=19.3181;SAR=337;SF=0;SRF=525;SRP=54.2129;SRR=379;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon96:c.G22401A:p.R7467R,OBSCN:NM_001271223:exon107:c.G25272A:p.R8424R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0012;1000g2015aug_all=0.0145767;avsnp147=rs76141831;Kaviar_AF=0.0046442;Kaviar_AC=718;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.0896;ExAC_AMR=0.0038;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0027;ExAC_OTH=0.0028;ExAC_SAS=0.0064;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3559;dpsi_zscore=1.712;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0432;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0042;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0054;gnomAD_exome_SAS=0.0047;gnomAD_genome_ALL=0.0122;gnomAD_genome_AFR=0.0409;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1080.97,0,-1578.02:1724:904:749:20254:27065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-914.71,0,-1320.48:1394:738:606:16845:22314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228562350 . T C 15082.04 . AB=0.492988;ABP=3.80206;AC=7;AF=0.5;AN=14;AO=914;CIGAR=1X;DP=13223;DPB=1854;DPRA=0;EPP=5.44311;EPPR=3.36972;GTI=0;LEN=1;MEANALT=3;MQM=31.8457;MQMR=33.8862;NS=1;NUMALT=1;ODDS=3127.25;PAIRED=0.900438;PAIREDR=0.909195;PAO=0;PQA=0;PQR=0;PRO=0;QA=25964;QR=24889;RO=870;RPL=544;RPP=74.9397;RPPR=60.6766;RPR=370;RUN=1;SAF=445;SAP=4.37876;SAR=469;SF=0,1;SRF=418;SRP=5.89561;SRR=452;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon97:c.T22560C:p.L7520L,OBSCN:NM_001271223:exon108:c.T25431C:p.L8477L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0280;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0280;1000g2015aug_all=0.00519169;avsnp147=rs72762068;Kaviar_AF=0.0183051;Kaviar_AC=2830;Kaviar_AN=154602;ExAC_ALL=0.0186;ExAC_AFR=0.0041;ExAC_AMR=0.0098;ExAC_EAS=0.0001;ExAC_FIN=0.0305;ExAC_NFE=0.0261;ExAC_OTH=0.0190;ExAC_SAS=0.0078;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1560;dpsi_zscore=-0.594;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0186;gnomAD_exome_AFR=0.0038;gnomAD_exome_AMR=0.0097;gnomAD_exome_ASJ=0.0255;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0323;gnomAD_exome_NFE=0.0253;gnomAD_exome_OTH=0.0215;gnomAD_exome_SAS=0.0087;gnomAD_genome_ALL=0.0199;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0167;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0306;gnomAD_genome_NFE=0.0283;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-1413.39,0,-1372.92:1854:870:914:25964:24889 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1528.11,0,-1440.36:1981:878:1000:27566:25650 . . . 0/1:-1030.19,0,-940.209:1293:599:635:17941:17066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1634.31,0,-1426.69:1945:896:972:28060:25761 . . . . . . . . . . . . . . . 0/1:-1518.98,0,-1669.42:2040:991:954:27417:28389 . . . . . . . . . . . 0/1:-1989.91,0,-2103.41:2151:1075:1014:30609:32140:1075,1014 . . . . 0/1:-1982.81,0,-1885.14:1959:941:967:29895:28405:941,967 . . . . . . chr1 228562413 . G A 5317.88 . AB=0.434653;ABP=40.4714;AC=1;AF=0.5;AN=2;AO=439;CIGAR=1X;DP=1010;DPB=1010;DPRA=0;EPP=3.13396;EPPR=6.08409;GTI=0;LEN=1;MEANALT=3;MQM=28.3713;MQMR=28.4466;NS=1;NUMALT=1;ODDS=1224.49;PAIRED=0.876993;PAIREDR=0.807767;PAO=0;PQA=0;PQR=0;PRO=0;QA=11953;QR=15116;RO=515;RPL=233;RPP=6.61623;RPPR=3.21691;RPR=206;RUN=1;SAF=215;SAP=3.41096;SAR=224;SF=0;SRF=274;SRP=7.60202;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon97:c.G22623A:p.A7541A,OBSCN:NM_001271223:exon108:c.G25494A:p.A8498A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs766513066;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.261e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.747e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1485;dpsi_zscore=-0.578;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.67e-05;gnomAD_exome_AFR=6.569e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.208e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.467e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.676e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-541.362,0,-737.942:1010:515:439:11953:15116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228562438 . G A 14427.90 . AB=0.467665;ABP=16.351;AC=1;AF=0.5;AN=2;AO=687;CIGAR=1X;DP=1469;DPB=1469;DPRA=0;EPP=3.01346;EPPR=10.7976;GTI=0;LEN=1;MEANALT=3;MQM=40.048;MQMR=39.6021;NS=1;NUMALT=1;ODDS=3322.15;PAIRED=0.954876;PAIREDR=0.949602;PAO=0;PQA=0;PQR=0;PRO=0;QA=21918;QR=24656;RO=754;RPL=354;RPP=4.40421;RPPR=3.19462;RPR=333;RUN=1;SAF=308;SAP=18.9439;SAR=379;SF=1;SRF=352;SRP=10.2101;SRR=402;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon97:c.G22648A:p.V7550I,OBSCN:NM_001271223:exon108:c.G25519A:p.V8507I;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs143872350;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0005;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=6.94e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.624;SIFT_pred=T;Polyphen2_HDIV_score=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.08;MutationAssessor_pred=L;FATHMM_score=-1.6;FATHMM_pred=D;PROVEAN_score=-0.42;PROVEAN_pred=N;VEST3_score=0.127;CADD_raw=-0.095;CADD_phred=1.766;DANN_score=0.669;fathmm-MKL_coding_score=0.038;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.829;MetaSVM_pred=T;MetaLR_score=0.345;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-3.71;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=-0.232;phastCons7way_vertebrate=0.458;phastCons20way_mammalian=0.082;SiPhy_29way_logOdds=13.214;GDI_full_10282015=.;dpsi_max_tissue=-0.0736;dpsi_zscore=-0.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.548e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.684e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1452.58,0,-1656.9:1469:754:687:21918:24656:754,687 . chr1 228563773 . C T 13319.90 . AB=0.488661;ABP=4.53684;AC=1;AF=0.5;AN=2;AO=668;CIGAR=1X;DP=1367;DPB=1367;DPRA=0;EPP=35.5174;EPPR=39.7329;GTI=0;LEN=1;MEANALT=3;MQM=39.6317;MQMR=40.6263;NS=1;NUMALT=1;ODDS=3067.01;PAIRED=0.956587;PAIREDR=0.961595;PAO=0;PQA=0;PQR=0;PRO=0;QA=20480;QR=21074;RO=677;RPL=382;RPP=32.9688;RPPR=30.7519;RPR=286;RUN=1;SAF=322;SAP=4.88271;SAR=346;SF=1;SRF=336;SRP=3.09049;SRR=341;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon99:c.C22851T:p.S7617S,OBSCN:NM_001271223:exon110:c.C25722T:p.S8574S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000199681;avsnp147=rs200487547;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0002;ExAC_AMR=0.0019;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0034;ExAC_SAS=6.058e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2392;dpsi_zscore=-0.757;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0046;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1345.32,0,-1416.72:1367:677:668:20480:21074:677,668 . . . . . . . . chr1 228564601 . C T 1380.80 . AB=0.4;ABP=44.7026;AC=1;AF=0.5;AN=2;AO=192;CIGAR=1X;DP=480;DPB=480;DPRA=0;EPP=3.73412;EPPR=45.9144;GTI=0;LEN=1;MEANALT=3;MQM=24.5365;MQMR=24.7823;NS=1;NUMALT=1;ODDS=317.942;PAIRED=0.84375;PAIREDR=0.887097;PAO=0;PQA=0;PQR=0;PRO=0;QA=4784;QR=7482;RO=248;RPL=158;RPP=176.909;RPPR=150.986;RPR=34;RUN=1;SAF=104;SAP=5.9056;SAR=88;SF=0;SRF=136;SRP=8.05372;SRR=112;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0925;esp6500siv2_ea=0.0027;esp6500siv2_all=0.0925;esp6500siv2_ea=0.0027;1000g2015aug_all=0.123802;avsnp147=rs827827;Kaviar_AF=0.0200644;Kaviar_AC=3102;Kaviar_AN=154602;ExAC_ALL=0.0442;ExAC_AFR=0.3686;ExAC_AMR=0.0373;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0038;ExAC_OTH=0.0056;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1926;dpsi_zscore=0.708;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0232;gnomAD_exome_AFR=0.3513;gnomAD_exome_AMR=0.0205;gnomAD_exome_ASJ=0.0072;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0150;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0981;gnomAD_genome_AFR=0.3416;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0134;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0155;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-165.875,0,-319.453:480:248:192:4784:7482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228564602 . G A 2458.25 . AB=0.494898;ABP=3.14325;AC=2;AF=0.5;AN=4;AO=291;CIGAR=1X;DP=1045;DPB=588;DPRA=0;EPP=5.16685;EPPR=66.0148;GTI=0;LEN=1;MEANALT=3;MQM=25.378;MQMR=24.1062;NS=1;NUMALT=1;ODDS=686.998;PAIRED=0.862543;PAIREDR=0.930403;PAO=0;PQA=0;PQR=0;PRO=0;QA=7727;QR=8375;RO=273;RPL=216;RPP=151.364;RPPR=123.348;RPR=75;RUN=1;SAF=149;SAP=3.37594;SAR=142;SF=0;SRF=144;SRP=4.79998;SRR=129;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0014;1000g2015aug_all=0.0145767;avsnp147=rs114101596;Kaviar_AF=0.0032341;Kaviar_AC=500;Kaviar_AN=154602;ExAC_ALL=0.0083;ExAC_AFR=0.0447;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0021;ExAC_OTH=0.0056;ExAC_SAS=0.0060;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5110;dpsi_zscore=-1.102;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0048;gnomAD_exome_AFR=0.0446;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0046;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0060;gnomAD_exome_SAS=0.0052;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0409;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.01;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-321.621,0,-329.84:588:273:291:7727:8375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-217.385,0,-318.302:457:239:204:5436:7438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228564884 . G A 10503.94 . AB=0.456318;ABP=24.2575;AC=30;AF=0.5;AN=56;AO=585;CIGAR=1X;DP=40086;DPB=1282;DPRA=0;EPP=19.6731;EPPR=52.802;GTI=0;LEN=1;MEANALT=3;MQM=30.5385;MQMR=32.4315;NS=1;NUMALT=1;ODDS=1776.42;PAIRED=0.764103;PAIREDR=0.832803;PAO=0;PQA=0;PQR=0;PRO=0;QA=16068;QR=19003;RO=628;RPL=373;RPP=99.2269;RPPR=105.305;RPR=212;RUN=1;SAF=247;SAP=33.7487;SAR=338;SF=0,1;SRF=304;SRP=4.3934;SRR=324;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon101:c.G23171A:p.R7724H,OBSCN:NM_001271223:exon112:c.G26042A:p.R8681H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0890;esp6500siv2_ea=0.0847;esp6500siv2_all=0.0890;esp6500siv2_ea=0.0847;1000g2015aug_all=0.140775;avsnp147=rs56174824;Kaviar_AF=0.101926;Kaviar_AC=15758;Kaviar_AN=154602;ExAC_ALL=0.1677;ExAC_AFR=0.1577;ExAC_AMR=0.0638;ExAC_EAS=0.4193;ExAC_FIN=0.2601;ExAC_NFE=0.1419;ExAC_OTH=0.1896;ExAC_SAS=0.1621;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.994;MutationTaster_pred=P;MutationAssessor_score=0.295;MutationAssessor_pred=N;FATHMM_score=1.03;FATHMM_pred=T;PROVEAN_score=1.23;PROVEAN_pred=N;VEST3_score=0.229;CADD_raw=1.749;CADD_phred=14.69;DANN_score=0.808;fathmm-MKL_coding_score=0.170;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.004;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-2.4;phyloP7way_vertebrate=-0.310;phyloP20way_mammalian=-0.765;phastCons7way_vertebrate=0.492;phastCons20way_mammalian=0.973;SiPhy_29way_logOdds=11.412;GDI_full_10282015=.;dpsi_max_tissue=0.0253;dpsi_zscore=0.169;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1144;gnomAD_exome_AFR=0.1125;gnomAD_exome_AMR=0.0393;gnomAD_exome_ASJ=0.0733;gnomAD_exome_EAS=0.3311;gnomAD_exome_FIN=0.1954;gnomAD_exome_NFE=0.0935;gnomAD_exome_OTH=0.1038;gnomAD_exome_SAS=0.1366;gnomAD_genome_ALL=0.1225;gnomAD_genome_AFR=0.1074;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.3084;gnomAD_genome_FIN=0.1901;gnomAD_genome_NFE=0.0981;gnomAD_genome_OTH=0.1469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-794.382,0,-1043.17:1282:628:585:16068:19003 . 0/1:-1348.85,0,-1526.31:2020:937:954:26124:29059 . . . . . 0/1:-950.833,0,-1292.32:1532:751:699:19008:22949 . 0/1:-1017.71,0,-1701.67:1856:982:779:20906:30488 0/1:-1220.09,0,-1171.08:1678:730:866:23043:23037 . . 1/1:-2405,-313.757,0:1352:37:1198:32980:810 0/1:-820.865,0,-871.506:1236:547:610:16006:16728 . 0/1:-783.433,0,-954.356:1177:556:565:15127:17301 . 0/1:-945.552,0,-1334.7:1553:770:695:18555:23691 0/1:-984.744,0,-1401.33:1652:827:737:19652:25696 . . . . . . . 0/1:-947.764,0,-1245.38:1483:717:686:18843:22045 . . . . . 0/1:-559.458,0,-773.859:932:457:426:11311:14006 . . 0/1:-960.431,0,-1405.13:1611:821:717:19687:25084 . . . 0/1:-591.367,0,-956.568:1077:552:475:12742:17173 0/1:-723.082,0,-987.628:1136:551:523:14133:17378 0/1:-910.674,0,-1343.12:1553:773:688:18458:23829 . . 0/1:-1081.6,0,-1386.86:1686:824:766:20757:25259 . . . . . . 0/1:-447.006,0,-740.973:861:451:372:9991:13842 . . . . 0/1:-1083.24,0,-1601.33:1803:926:778:21549:28691 . . 1/1:-1988.09,-251.407,0:1157:48:1019:27676:1014 . . . . . . . . . . . 0/1:-590.478,0,-854.634:967:480:434:11874:14936 . . . . . . 0/1:-1071.29,0,-1390.55:1723:840:777:20827:25812 . . . . . . . . 0/1:-1387.07,0,-1606.66:1498:743:719:21563:23931:743,719 . . . . 0/1:-1271.09,0,-1345.19:1304:632:646:19322:20291:632,646 0/1:-1224.03,0,-1660.41:1415:759:632:19250:24443:759,632 . . . 0/1:-1347.16,0,-1641.79:1489:764:698:21071:24815:764,698 . 0/1:-1259.77,0,-1427.93:1333:665:638:19686:21499:665,638 0/1:-1600.79,0,-1830.2:1720:858:829:24820:27395:858,829 chr1 228565208 . C T 8987.04 . AB=0.426923;ABP=75.3704;AC=4;AF=0.5;AN=8;AO=666;CIGAR=1X;DP=6042;DPB=1560;DPRA=0;EPP=26.0162;EPPR=139.599;GTI=0;LEN=1;MEANALT=3;MQM=33.3048;MQMR=34.6133;NS=1;NUMALT=1;ODDS=2101.26;PAIRED=0.867868;PAIREDR=0.907635;PAO=0;PQA=0;PQR=0;PRO=0;QA=17697;QR=22710;RO=812;RPL=250;RPP=92.8558;RPPR=95.5279;RPR=416;RUN=1;SAF=361;SAP=13.2351;SAR=305;SF=0,1;SRF=438;SRP=13.9639;SRR=374;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.C23298T:p.S7766S,OBSCN:NM_001271223:exon113:c.C26169T:p.S8723S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0354;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0354;1000g2015aug_all=0.0117812;avsnp147=rs55755045;Kaviar_AF=0.0264744;Kaviar_AC=4093;Kaviar_AN=154602;ExAC_ALL=0.0315;ExAC_AFR=0.0070;ExAC_AMR=0.0116;ExAC_EAS=0;ExAC_FIN=0.0314;ExAC_NFE=0.0437;ExAC_OTH=0.0272;ExAC_SAS=0.0254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0757;dpsi_zscore=-0.369;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0254;gnomAD_exome_AFR=0.0056;gnomAD_exome_AMR=0.0104;gnomAD_exome_ASJ=0.0154;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0257;gnomAD_exome_NFE=0.0385;gnomAD_exome_OTH=0.0225;gnomAD_exome_SAS=0.0224;gnomAD_genome_ALL=0.0272;gnomAD_genome_AFR=0.0071;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0246;gnomAD_genome_NFE=0.0430;gnomAD_genome_OTH=0.0305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-936.303,0,-1360.31:1560:812:666:17697:22710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-638.555,0,-740.476:999:471:470:11847:13279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1612.76,0,-1806.39:1865:926:872:25420:27582:926,872 . . . . . 0/1:-1533.57,0,-1537.71:1618:772:806:23686:23558:772,806 . chr1 228565209 . G A 9290.70 . AB=0.4325;ABP=82.1605;AC=2;AF=0.5;AN=4;AO=865;CIGAR=1X;DP=3459;DPB=2000;DPRA=0;EPP=114.775;EPPR=132.093;GTI=0;LEN=1;MEANALT=3;MQM=33.9988;MQMR=34.0825;NS=1;NUMALT=1;ODDS=2501.92;PAIRED=0.889017;PAIREDR=0.8907;PAO=0;PQA=0;PQR=0;PRO=0;QA=20984;QR=30935;RO=1043;RPL=336;RPP=96.5192;RPPR=71.217;RPR=529;RUN=1;SAF=513;SAP=68.0817;SAR=352;SF=0;SRF=610;SRP=68.2357;SRR=433;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23299A:p.E7767K,OBSCN:NM_001271223:exon113:c.G26170A:p.E8724K;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=0.00179712;avsnp147=rs182714476;Kaviar_AF=0.0011513;Kaviar_AC=178;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0005;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0019;ExAC_OTH=0.0040;ExAC_SAS=0.0012;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.671;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.661;MutationTaster_pred=D;MutationAssessor_score=1.705;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.415;CADD_raw=7.258;CADD_phred=34;DANN_score=0.995;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.527;MetaSVM_pred=T;MetaLR_score=0.326;MetaLR_pred=T;integrated_fitCons_score=0.677;integrated_confidence_value=0;GERP++_RS=4.93;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.985;phastCons7way_vertebrate=0.609;phastCons20way_mammalian=0.939;SiPhy_29way_logOdds=18.135;GDI_full_10282015=.;dpsi_max_tissue=-0.0879;dpsi_zscore=-0.412;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0149;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.01e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1125.85,0,-1836.68:2000:1043:865:20984:30935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-797.979,0,-1223.05:1459:751:628:15431:21781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228565266 . C T 19440.00 . AB=0.446127;ABP=76.2416;AC=1;AF=0.5;AN=2;AO=1296;CIGAR=1X;DP=2905;DPB=2905;DPRA=0;EPP=66.0701;EPPR=95.0843;GTI=0;LEN=1;MEANALT=3;MQM=34.7654;MQMR=34.6377;NS=1;NUMALT=1;ODDS=4476.22;PAIRED=0.88966;PAIREDR=0.86228;PAO=0;PQA=0;PQR=0;PRO=0;QA=34991;QR=44679;RO=1474;RPL=572;RPP=41.7215;RPPR=17.1588;RPR=724;RUN=1;SAF=591;SAP=24.7853;SAR=705;SF=0;SRF=692;SRP=14.9431;SRR=782;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.C23356T:p.H7786Y,OBSCN:NM_001271223:exon113:c.C26227T:p.H8743Y;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs754183895;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.535e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.063e-05;ExAC_OTH=0;ExAC_SAS=6.152e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.202;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.6;MutationAssessor_pred=N;FATHMM_score=1.06;FATHMM_pred=T;PROVEAN_score=-2.07;PROVEAN_pred=N;VEST3_score=0.235;CADD_raw=-0.434;CADD_phred=0.319;DANN_score=0.803;fathmm-MKL_coding_score=0.080;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.018;MetaSVM_pred=T;MetaLR_score=0.057;MetaLR_pred=T;integrated_fitCons_score=0.677;integrated_confidence_value=0;GERP++_RS=-1.89;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-1.109;phastCons7way_vertebrate=0.959;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=4.300;GDI_full_10282015=.;dpsi_max_tissue=-0.0564;dpsi_zscore=-0.293;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.22e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1967.65,0,-2653.6:2905:1474:1296:34991:44679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228565329 . G A 11516.25 . AB=0.457709;ABP=32.0299;AC=2;AF=0.5;AN=4;AO=855;CIGAR=1X;DP=3250;DPB=1868;DPRA=0;EPP=13.0905;EPPR=5.66381;GTI=0;LEN=1;MEANALT=3;MQM=33.7006;MQMR=35.518;NS=1;NUMALT=1;ODDS=2995.21;PAIRED=0.842105;PAIREDR=0.828753;PAO=0;PQA=0;PQR=0;PRO=0;QA=24248;QR=28927;RO=946;RPL=520;RPP=89.9327;RPPR=104.239;RPR=335;RUN=1;SAF=318;SAP=124.818;SAR=537;SF=0;SRF=344;SRP=155.803;SRR=602;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23419A:p.V7807I,OBSCN:NM_001271223:exon113:c.G26290A:p.V8764I;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0167;esp6500siv2_ea=0.0231;esp6500siv2_all=0.0167;esp6500siv2_ea=0.0231;1000g2015aug_all=0.00499201;avsnp147=rs61730829;Kaviar_AF=0.0152197;Kaviar_AC=2353;Kaviar_AN=154602;ExAC_ALL=0.0149;ExAC_AFR=0.0031;ExAC_AMR=0.0063;ExAC_EAS=0;ExAC_FIN=0.0257;ExAC_NFE=0.0222;ExAC_OTH=0.0123;ExAC_SAS=0.0018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.461;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=-0.985;MutationAssessor_pred=N;FATHMM_score=1.38;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_pred=N;VEST3_score=0.325;CADD_raw=3.334;CADD_phred=22.9;DANN_score=0.937;fathmm-MKL_coding_score=0.599;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.677;integrated_confidence_value=0;GERP++_RS=0.569;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=-0.310;phastCons7way_vertebrate=0.953;phastCons20way_mammalian=0.347;SiPhy_29way_logOdds=5.117;GDI_full_10282015=.;dpsi_max_tissue=0.1681;dpsi_zscore=0.657;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0151;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0091;gnomAD_exome_ASJ=0.0172;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0243;gnomAD_exome_NFE=0.0225;gnomAD_exome_OTH=0.0172;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0134;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0209;gnomAD_genome_NFE=0.0180;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1332.28,0,-1748.33:1868:946:855:24248:28927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1022.44,0,-1299.66:1382:699:643:18290:21628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 228566084 . G A 496.87 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=28;CIGAR=1X;DP=56;DPB=56;DPRA=0;EPP=10.7656;EPPR=12.7417;GTI=0;LEN=1;MEANALT=2;MQM=39.8929;MQMR=35.963;NS=1;NUMALT=1;ODDS=90.0451;PAIRED=0.928571;PAIREDR=0.962963;PAO=0;PQA=0;PQR=0;PRO=0;QA=919;QR=845;RO=27;RPL=22;RPP=22.8638;RPPR=38.4777;RPR=6;RUN=1;SAF=3;SAP=40.5458;SAR=25;SF=1;SRF=5;SRP=26.2531;SRR=22;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon104:c.G23692A:p.V7898M,OBSCN:NM_001271223:exon115:c.G26557A:p.V8853M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769113229;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=9.045e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_pred=N;MutationAssessor_score=1.595;MutationAssessor_pred=L;FATHMM_score=-0.17;FATHMM_pred=T;PROVEAN_score=-1.53;PROVEAN_pred=N;VEST3_score=0.423;CADD_raw=6.597;CADD_phred=31;DANN_score=0.991;fathmm-MKL_coding_score=0.870;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.665;MetaSVM_pred=T;MetaLR_score=0.454;MetaLR_pred=T;integrated_fitCons_score=0.564;integrated_confidence_value=0;GERP++_RS=5.28;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.977;phastCons7way_vertebrate=0.337;phastCons20way_mammalian=0.125;SiPhy_29way_logOdds=18.962;GDI_full_10282015=.;dpsi_max_tissue=0.6361;dpsi_zscore=1.259;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.724e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-62.0173,0,-51.7441:56:27:28:919:845:27,28 . . . . . . . . . . . . . . . . . chr1 229567660 . CGGCGGGGAGC CGGGCGGGGAGC,CGGGGGGGGAGC 1618.87 . AB=0.26269;ABP=388.463;AC=16,12;AF=0.5;AN=52;AO=207;CIGAR=1M1I2M;DP=17027;DPB=868;DPRA=0;EPP=58.9126;EPPR=42.5603;GTI=0;LEN=1;MEANALT=27;MQM=23.1304;MQMR=28.2312;NS=1;NUMALT=1;ODDS=40.0874;PAIRED=0.772947;PAIREDR=0.893281;PAO=4.5;PQA=78;PQR=78;PRO=4.5;QA=3855;QR=15287;RO=506;RPL=83;RPP=20.6443;RPPR=36.2433;RPR=124;RUN=1;SAF=185;SAP=281.725;SAR=22;SF=0,1;SRF=378;SRP=271.226;SRR=128;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201427429;Kaviar_AF=0.0060543;Kaviar_AC=936;Kaviar_AN=154602;ExAC_ALL=0.1491;ExAC_AFR=0.1065;ExAC_AMR=0.1199;ExAC_EAS=0.1665;ExAC_FIN=0.1135;ExAC_NFE=0.1619;ExAC_OTH=0.1427;ExAC_SAS=0.1498;CLNALLELEID=99456;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1286;gnomAD_exome_AFR=0.0867;gnomAD_exome_AMR=0.0973;gnomAD_exome_ASJ=0.2698;gnomAD_exome_EAS=0.1291;gnomAD_exome_FIN=0.0978;gnomAD_exome_NFE=0.1368;gnomAD_exome_OTH=0.1287;gnomAD_exome_SAS=0.1328;gnomAD_genome_ALL=0.1390;gnomAD_genome_AFR=0.1215;gnomAD_genome_AMR=0.1494;gnomAD_genome_ASJ=0.2552;gnomAD_genome_EAS=0.1733;gnomAD_genome_FIN=0.1220;gnomAD_genome_NFE=0.1477;gnomAD_genome_OTH=0.1216;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=228354;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:.,.,-815.166,.,.,.:788:506:207,.:3855,.:15287 . . 0/1:.,.,-680.176,.,.,.:664:424:175,.:3313,.:12824 . . . . . . . . . . . . . . . . 0/1:.,.,-513.566,.,.,.:538:336:157,.:2895,.:10025 . . 0/1:.,.,-88.5602,.,.,.:452:121:288,.:5234,.:3497 . . . . . 0/1:.,.,-342.937,.,.,.:373:226:115,.:2111,.:6601 . . . . . . . . . 0/1:.,.,-77.9683,.,.,.:653:145:451,.:8668,.:4137 . 0/1:.,.,-444.566,.,.,.:450:262:140,.:2494,.:8053 . . 0/1:.,.,-434.649,.,.,.:495:297:162,.:3002,.:9081 . 0/1:.,.,-62.4018,.,.,.:324:82:219,.:3787,.:2320 0/1:.,.,-302,.,.,.:329:191:113,.:2193,.:5779 0/1:.,.,-92.8026,.,.,.:619:158:403,.:7269,.:4448 0/1:.,.,-833.976,.,.,.:794:508:221,.:4298,.:15375 . 0/1:.,.,-770.094,.,.,.:806:501:244,.:4623,.:14920 . . . . . . . . . . . . . . . . . . 0/1:.,.,-118.502,.,.,.:646:168:416,.:7893,.:4633 . . . . . . . . . 0/1:.,.,-719.602,.,.,.:754:470:217,.:4064,.:13939 0/1:.,.,-710.262,.,.,.:743:460:225,.:3919,.:13744 . . . . . . . . . . . . . 2/2:-1225.15,.,.,-127.758,.,0:678:11:.,494:.,14163:333:11,494 0/2:.,.,.,.,.,-809.803:750:393:.,223:.,7383:11865:393,223 . . . 0/2:.,.,.,.,.,-1139.75:971:543:.,273:.,9090:16624:543,273 . . 0/2:.,.,.,.,.,-895.503:754:429:.,215:.,7025:13055:429,215 0/2:.,.,.,.,.,-1033.13:854:502:.,226:.,7497:15103:502,226 . 0/2:-310.544,.,.,0,.,-695.237:670:317:.,191:.,5424:10008:317,191 . 2/2:-997.274,.,.,-108.589,.,0:569:7:.,408:.,11713:230:7,408 . 0/2:-396.098,.,.,0,.,-706.002:772:332:.,238:.,6643:10368:332,238 . 0/2:.,.,.,.,.,-1061.58:825:497:.,221:.,7277:15318:497,221 . 0/2:.,.,.,.,.,-931.363:756:441:.,204:.,6757:13588:441,204 chr1 229567663 . CGG GGG,CGGG 2326.27 . AB=0.365285;ABP=124.703;AC=41,1;AF=0.5;AN=72;AO=282;CIGAR=1X;DP=20153;DPB=772;DPRA=0;EPP=23.8318;EPPR=20.6203;GTI=0;LEN=1;MEANALT=3;MQM=22.4433;MQMR=28.2595;NS=1;NUMALT=1;ODDS=445.138;PAIRED=0.787234;PAIREDR=0.907173;PAO=0;PQA=0;PQR=0;PRO=0;QA=8315;QR=14203;RO=474;RPL=116;RPP=22.2609;RPPR=66.7984;RPR=166;RUN=1;SAF=221;SAP=200.137;SAR=61;SF=0;SRF=334;SRP=175.427;SRR=140;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1414;esp6500siv2_ea=0.0331;esp6500siv2_all=0.1414;esp6500siv2_ea=0.0331;1000g2015aug_all=0.139377;avsnp147=rs6673359;Kaviar_AF=0.0175159;Kaviar_AC=2708;Kaviar_AN=154602;ExAC_ALL=0.2027;ExAC_AFR=0.4567;ExAC_AMR=0.2667;ExAC_EAS=0.1699;ExAC_FIN=0.1170;ExAC_NFE=0.1726;ExAC_OTH=0.1678;ExAC_SAS=0.1750;CLNALLELEID=99457;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3166;dpsi_zscore=1.693;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1949;gnomAD_exome_AFR=0.4628;gnomAD_exome_AMR=0.2555;gnomAD_exome_ASJ=0.3219;gnomAD_exome_EAS=0.1537;gnomAD_exome_FIN=0.1104;gnomAD_exome_NFE=0.1577;gnomAD_exome_OTH=0.1896;gnomAD_exome_SAS=0.1708;gnomAD_genome_ALL=0.2461;gnomAD_genome_AFR=0.4630;gnomAD_genome_AMR=0.2752;gnomAD_genome_ASJ=0.2886;gnomAD_genome_EAS=0.1757;gnomAD_genome_FIN=0.1235;gnomAD_genome_NFE=0.1596;gnomAD_genome_OTH=0.1550;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . 0/1:.,.,-742.939,.,.,.:772:474:282,.:8315,.:14203 0/1:.,.,-570.983,.,.,.:605:383:210,.:6201,.:11194 . 0/1:.,.,-596.577,.,.,.:653:406:238,.:6923,.:11976 0/1:.,.,-829.821,.,.,.:845:525:307,.:8665,.:15620 . . . . . 0/1:.,.,-635.909,.,.,.:645:408:234,.:6859,.:12147 0/1:.,.,-469.251,.,.,.:524:320:195,.:5688,.:9399 . . . . . . . . 0/1:.,.,-425.977,.,.,.:513:293:210,.:6173,.:8752 0/1:.,.,-326.637,.,.,.:369:229:130,.:3654,.:6880 . 1/1:.,.,0,.,.,.:408:12:387,.:11643,.:212 . . . 2/1:-418.567,-231.477,-216.055,-158.277,0,-128.106:482:34:180,230:3201,4188:909 . 0/1:.,.,-282.887,.,.,.:360:199:156,.:4563,.:5735 . 0/1:.,.,-682.429,.,.,.:769:462:299,.:8719,.:13374 . . 0/1:.,.,-718.872,.,.,.:723:471:236,.:7203,.:13716 . . . . 1/1:.,.,0,.,.,.:598:27:560,.:16915,.:571 . 0/1:.,.,-356.748,.,.,.:431:227:199,.:5820,.:6911 . . 0/1:.,.,-332.659,.,.,.:468:246:217,.:6449,.:7231 0/1:.,.,-574.699,.,.,.:620:377:235,.:6917,.:11292 1/1:.,.,0,.,.,.:299:13:282,.:8738,.:260 0/1:.,.,-232.899,.,.,.:306:164:137,.:4181,.:4895 1/1:.,.,0,.,.,.:550:37:504,.:15379,.:662 0/1:.,.,-740.785,.,.,.:775:486:280,.:8268,.:14226 . 0/1:.,.,-664.147,.,.,.:781:458:315,.:9459,.:13603 . . 0/1:.,.,-570.325,.,.,.:580:360:209,.:6338,.:10821 0/1:.,.,-651.714,.,.,.:697:423:269,.:8069,.:12700 0/1:.,.,-337.174,.,.,.:332:222:107,.:2834,.:6749 0/1:.,.,-266.855,.,.,.:449:202:240,.:7102,.:6148 . 0/1:.,.,-309.969,.,.,.:399:225:164,.:4833,.:6702 . . . . . . . . . 0/1:.,.,-502.645,.,.,.:570:348:215,.:6544,.:10105 1/1:.,.,0,.,.,.:594:32:553,.:16813,.:592 . 0/1:.,.,-288.263,.,.,.:427:224:195,.:5298,.:6345 0/1:.,.,-529.633,.,.,.:499:341:154,.:4547,.:9829 . . . 0/1:.,.,-519.903,.,.,.:494:330:153,.:4469,.:9872 . . 0/1:.,.,-642.29,.,.,.:730:437:287,.:8621,.:12731 0/1:.,.,-593.633,.,.,.:723:391:317,.:9414,.:11913 0/1:.,.,-496.462,.,.,.:688:349:326,.:9453,.:10549 . . 0/1:.,.,-491.363,.,.,.:475:293:176,.:5030,.:8849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 229568632 . A G 10697.57 . AB=0.526531;ABP=10.4997;AC=53;AF=0.5;AN=90;AO=645;CIGAR=1X;DP=47794;DPB=1225;DPRA=0;EPP=18.1231;EPPR=3.43113;GTI=0;LEN=1;MEANALT=3;MQM=31.4233;MQMR=33.9535;NS=1;NUMALT=1;ODDS=1805.77;PAIRED=0.951938;PAIREDR=0.910853;PAO=0;PQA=0;PQR=0;PRO=0;QA=18222;QR=14913;RO=516;RPL=388;RPP=60.7849;RPPR=76.3354;RPR=257;RUN=1;SAF=267;SAP=44.4905;SAR=378;SF=0,1;SRF=217;SRP=31.3068;SRR=299;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2720;esp6500siv2_ea=0.1807;esp6500siv2_all=0.2720;esp6500siv2_ea=0.1807;1000g2015aug_all=0.273962;avsnp147=rs11803533;Kaviar_AF=0.204376;Kaviar_AC=31597;Kaviar_AN=154602;ExAC_ALL=0.2082;ExAC_AFR=0.4669;ExAC_AMR=0.2674;ExAC_EAS=0.1722;ExAC_FIN=0.1157;ExAC_NFE=0.1808;ExAC_OTH=0.1729;ExAC_SAS=0.1755;CLNALLELEID=99452;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1543;dpsi_zscore=0.627;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2075;gnomAD_exome_AFR=0.4731;gnomAD_exome_AMR=0.2645;gnomAD_exome_ASJ=0.3305;gnomAD_exome_EAS=0.1754;gnomAD_exome_FIN=0.1156;gnomAD_exome_NFE=0.1743;gnomAD_exome_OTH=0.2026;gnomAD_exome_SAS=0.1797;gnomAD_genome_ALL=0.2509;gnomAD_genome_AFR=0.4728;gnomAD_genome_AMR=0.2763;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.1768;gnomAD_genome_FIN=0.1198;gnomAD_genome_NFE=0.1643;gnomAD_genome_OTH=0.1585;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1023.58,0,-805.624:1225:516:645:18222:14913 0/1:-784.581,0,-681.687:1014:435:529:14955:12836 . 0/1:-796.731,0,-804.421:1083:498:530:15003:14666 0/1:-967.743,0,-1028.39:1396:644:662:18930:18834 . . . . . 0/1:-832.502,0,-775.262:1066:475:532:15096:13941 0/1:-832.177,0,-709.054:1039:451:537:14974:13201 . . . . . . . . 0/1:-902.734,0,-1039.86:1280:611:611:17260:18114 0/1:-442.376,0,-425.305:634:292:309:8765:8344 . 1/1:-2499.07,-337.575,0:1233:11:1183:34230:286 . . . 1/1:-1505.21,-216.619,0:793:7:757:21221:164 . . . 0/1:-718.056,0,-983.189:1141:576:490:14011:17053 . . 0/1:-678.608,0,-1025.72:1112:578:475:13398:17625 . . . . 1/1:-2507.41,-340.899,0:1220:9:1176:33697:202 . 0/1:-713.87,0,-928.413:1075:534:471:13414:16025 . . 0/1:-680.303,0,-817.721:1005:490:461:12993:14292 0/1:-788.133,0,-790.61:1061:484:518:14613:14181 1/1:-1188.62,-157.359,0:608:7:572:16107:230 0/1:-626.27,0,-679.337:804:385:392:11206:11475 1/1:-2601.58,-354.231,0:1313:18:1256:35608:397 0/1:-770.212,0,-1038.86:1193:597:539:15160:17692 . 0/1:-868.449,0,-881.076:1180:541:575:16141:15563 . . 0/1:-661.103,0,-548.811:780:331:418:11952:9987 0/1:-912.795,0,-811.024:1127:504:576:16438:14657 0/1:-402.486,0,-429.896:602:273:291:7911:7916 0/1:-491.054,0,-645.826:750:380:329:9354:11139 . 0/1:-420.343,0,-583.192:710:362:313:8586:10440 . . . . . . . . . 0/1:-767.661,0,-811.443:1084:499:517:14779:14441 1/1:-2762.77,-367.368,0:1332:10:1276:36533:259 . 0/1:-475.911,0,-409.366:687:295:346:9039:8368 0/1:-682.959,0,-581.273:833:366:422:12393:10794 . . . 0/1:-422.575,0,-554.348:644:324:293:8200:9393 . . 0/1:-816.845,0,-856.767:1182:539:561:15679:15905 0/1:-869.482,0,-1055:1251:615:581:16812:17898 0/1:-813.871,0,-610.716:942:392:508:14256:11446 . . 0/1:-518.084,0,-578.582:737:340:363:10256:10249 . . . . . . . . . 1/1:-3751.24,-387.058,0:1474:22:1428:44369:585:22,1428 0/1:-1357.27,0,-1152.42:1250:574:655:20396:17926:574,655 . . . 0/1:-1464.48,0,-1349.83:1405:661:721:22092:20601:661,721 . . 0/1:-1289.11,0,-1131.88:1192:558:618:19361:17565:558,618 0/1:-1361.81,0,-1356.97:1361:669:674:20984:20588:669,674 . 0/1:-979.2,0,-1044.1:1008:503:487:15097:15618:503,487 . 1/1:-2879.53,-311.295,0:1115:9:1092:34024:267:9,1092 . 0/1:-1238.63,0,-1377.31:1309:654:636:19332:20422:654,636 . 0/1:-1040.49,0,-1116.39:1063:527:511:16043:16668:527,511 . 0/1:-1534.04,0,-1441.62:1481:704:753:23306:21889:704,753 chr1 229568637 . C G 9875.71 . AB=0.53223;ABP=13.3683;AC=51;AF=0.5;AN=86;AO=611;CIGAR=1X;DP=42977;DPB=1148;DPRA=0;EPP=51.6605;EPPR=27.7217;GTI=0;LEN=1;MEANALT=3;MQM=30.82;MQMR=33.3225;NS=1;NUMALT=1;ODDS=1958.15;PAIRED=0.949264;PAIREDR=0.909789;PAO=0;PQA=0;PQR=0;PRO=0;QA=16817;QR=15966;RO=521;RPL=372;RPP=65.8764;RPPR=30.3558;RPR=239;RUN=1;SAF=255;SAP=39.2643;SAR=356;SF=0,1;SRF=199;SRP=66.0664;SRR=322;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2045;esp6500siv2_ea=0.1751;esp6500siv2_all=0.2045;esp6500siv2_ea=0.1751;1000g2015aug_all=0.211861;avsnp147=rs41271481;Kaviar_AF=0.183335;Kaviar_AC=28344;Kaviar_AN=154602;ExAC_ALL=0.1862;ExAC_AFR=0.2736;ExAC_AMR=0.2554;ExAC_EAS=0.1713;ExAC_FIN=0.1158;ExAC_NFE=0.1769;ExAC_OTH=0.1611;ExAC_SAS=0.1592;CLNALLELEID=99451;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0420;dpsi_zscore=1.545;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1882;gnomAD_exome_AFR=0.2730;gnomAD_exome_AMR=0.2514;gnomAD_exome_ASJ=0.3021;gnomAD_exome_EAS=0.1736;gnomAD_exome_FIN=0.1154;gnomAD_exome_NFE=0.1715;gnomAD_exome_OTH=0.1858;gnomAD_exome_SAS=0.1628;gnomAD_genome_ALL=0.1954;gnomAD_genome_AFR=0.2826;gnomAD_genome_AMR=0.2691;gnomAD_genome_ASJ=0.2748;gnomAD_genome_EAS=0.1757;gnomAD_genome_FIN=0.1191;gnomAD_genome_NFE=0.1622;gnomAD_genome_OTH=0.1437;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-913.387,0,-871.534:1148:521:611:16817:15966 0/1:-688.184,0,-713.854:935:435:486:13568:13069 . 0/1:-697.288,0,-758.249:984:475:496:13463:13925 0/1:-874.54,0,-1003.62:1284:622:634:17522:18356 . . . . . 0/1:-745.117,0,-799.19:998:478:504:13732:14352 0/1:-718.617,0,-694.206:953:442:494:13305:13085 . . . . . . . . 0/1:-816.3,0,-1062.59:1197:606:572:15929:18434 0/1:-362.442,0,-449.24:580:290:282:7660:8427 . 1/1:-2276.09,-295.414,0:1180:35:1121:31459:696 . . . 1/1:-1382.28,-198.837,0:758:18:733:19679:371 . . . 0/1:-647.341,0,-999.757:1067:583:468:13089:17314 . . 0/1:-585.636,0,-980.294:1017:560:445:11856:16936 . . . . 1/1:-2190.68,-286.162,0:1136:33:1087:29907:705 . 0/1:-628.803,0,-955.247:997:548:435:12144:16638 . . 0/1:-614.073,0,-813.389:926:478:436:12104:14409 0/1:-733.285,0,-776.41:986:471:502:13701:14102 1/1:-1099.71,-143.494,0:573:16:552:14942:387 0/1:-559.502,0,-628.145:721:352:362:10109:10728 1/1:-2401.59,-323.266,0:1254:35:1196:32973:644 0/1:-684.871,0,-1071.49:1110:597:502:13731:17876 . 0/1:-802.137,0,-919.97:1086:529:549:15058:16255 . . 0/1:-589.608,0,-558.191:734:329:393:10864:10093 0/1:-801.99,0,-806.643:1039:490:535:14835:14499 0/1:-373.574,0,-431.518:564:269:278:7412:7888 0/1:-439.15,0,-672.638:703:386:309:8566:11519 . 0/1:-384.287,0,-573.975:655:349:294:8051:10239 . . . . . . . . . 0/1:-653.992,0,-805.023:977:483:472:12951:14453 1/1:-2567.9,-333.593,0:1269:26:1216:34204:501 . . 0/1:-614.048,0,-570.548:772:354:397:11275:10503 . . . 0/1:-379.468,0,-564.971:589:312:270:7574:9517 . . 0/1:-741.258,0,-938.209:1132:572:543:14549:17229 0/1:-800.679,0,-1059.1:1173:606:554:15902:18079 . . . 0/1:-485.753,0,-569.282:691:341:344:9563:10188 . . . . . . . . . 1/1:-3608.04,-364.722,0:1402:20:1369:42647:616:20,1369 0/1:-1278.16,0,-1056.81:1168:532:624:19221:16598:532,624 . . . 0/1:-1394.24,0,-1350.41:1313:628:677:21084:20262:628,677 . . 0/1:-1211.05,0,-1027.2:1114:515:587:18203:16131:515,587 0/1:-1305.02,0,-1247.31:1250:601:635:19879:18952:601,635 . 0/1:-943.607,0,-995.686:950:472:468:14430:14879:472,468 . 1/1:-2663.62,-281.229,0:1032:12:1007:31345:323:12,1007 . 0/1:-1205.79,0,-1230.98:1215:592:606:18697:18490:592,606 . 0/1:-978.401,0,-1028.73:994:498:484:15109:15483:498,484 . 0/1:-1470.74,0,-1283.14:1351:620:713:21975:19423:620,713 chr1 236849952 . C T 1498.64 . AB=0.581921;ABP=13.3279;AC=7;AF=0.5;AN=14;AO=103;CIGAR=1X;DP=1839;DPB=177;DPRA=0;EPP=9.10307;EPPR=3.872;GTI=0;LEN=1;MEANALT=3;MQM=30.2427;MQMR=25.9683;NS=1;NUMALT=1;ODDS=131.331;PAIRED=0.660194;PAIREDR=0.650794;PAO=0;PQA=0;PQR=0;PRO=0;QA=2772;QR=2015;RO=63;RPL=12;RPP=134.585;RPPR=79.1497;RPR=91;RUN=1;SAF=58;SAP=6.5732;SAR=45;SF=0,1;SRF=33;SRP=3.32051;SRR=30;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=ACTN2;GeneDetail.refGene=NM_001278343:c.-22C>T,NM_001278344:c.-49021C>T,NM_001103:c.-22C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0289;esp6500siv2_ea=0.0399;esp6500siv2_all=0.0289;esp6500siv2_ea=0.0399;1000g2015aug_all=0.0115815;avsnp147=rs138279482;Kaviar_AF=0.0243076;Kaviar_AC=3758;Kaviar_AN=154602;ExAC_ALL=0.0261;ExAC_AFR=0.0056;ExAC_AMR=0.0194;ExAC_EAS=0.0002;ExAC_FIN=0.0103;ExAC_NFE=0.0379;ExAC_OTH=0.0321;ExAC_SAS=0.0162;CLNALLELEID=139990;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0262;gnomAD_exome_AFR=0.0048;gnomAD_exome_AMR=0.0191;gnomAD_exome_ASJ=0.0662;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0119;gnomAD_exome_NFE=0.0351;gnomAD_exome_OTH=0.0387;gnomAD_exome_SAS=0.0170;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0077;gnomAD_genome_AMR=0.0190;gnomAD_genome_ASJ=0.0748;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0128;gnomAD_genome_NFE=0.0323;gnomAD_genome_OTH=0.0157;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-151.261,0,-73.3598:177:63:103:2772:2015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-71.8816,0,-97.151:133:60:65:1681:1854 . . . . . . . . . . . . . . . 0/1:-63.8839,0,-183.077:178:102:63:1631:3342 . . . . . . 0/1:-187.95,0,-129.479:258:98:137:3678:3004 . . 0/1:-146.632,0,-145.738:204:94:104:2868:3092 . . 0/1:-335.119,0,-403.233:401:191:189:5540:6178:191,189 . . . . . . . . . . . . . 0/1:-415.961,0,-490.313:488:242:233:6717:7646:242,233 . . . . . chr1 236882303 . T C 24066.87 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=981;CIGAR=1X;DP=131104;DPB=1012;DPRA=0;EPP=3.1896;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=36.5627;MQMR=30;NS=1;NUMALT=1;ODDS=1344.13;PAIRED=0.970438;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=26171;QR=55;RO=3;RPL=786;RPP=776.154;RPPR=9.52472;RPR=195;RUN=1;SAF=352;SAP=172.852;SAR=629;SF=0,1;SRF=0;SRP=9.52472;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9922;esp6500siv2_ea=0.9998;esp6500siv2_all=0.9922;esp6500siv2_ea=0.9998;1000g2015aug_all=0.992612;avsnp147=rs1341864;Kaviar_AF=0.95645;Kaviar_AC=147869;Kaviar_AN=154602;ExAC_ALL=0.9979;ExAC_AFR=0.9772;ExAC_AMR=0.9990;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=53106;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7587;dpsi_zscore=1.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9984;gnomAD_exome_AFR=0.9784;gnomAD_exome_AMR=0.9988;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=0.9989;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9933;gnomAD_genome_AFR=0.9767;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2165.59,-291.724,0:1012:3:981:26171:55 1/1:-2915.27,-389.447,0:1368:6:1315:35631:97 1/1:-2430.95,-326.269,0:1136:4:1098:29667:63 1/1:-1686.56,-223.378,0:804:8:771:20503:132 1/1:-2487.38,-340.264,0:1194:5:1150:30325:95 1/1:-2991.6,-403.853,0:1415:6:1360:36386:98 1/1:-2207.91,-294.253,0:1032:5:996:26791:95 1/1:-2902.82,-393.649,0:1372:4:1320:35265:56 1/1:-2133.87,-276.51,0:973:4:929:25542:56 1/1:-2566.37,-345.589,0:1203:4:1160:31301:63 1/1:-1951.63,-266.18,0:923:4:893:24013:74 1/1:-2559.69,-342.807,0:1170:5:1153:31370:88 1/1:-2310.61,-311.67,0:1104:6:1065:28035:120 1/1:-1598.16,-228.976,0:796:3:763:19991:60 1/1:-2047.97,-273.273,0:965:5:925:24754:77 1/1:-3643.08,-480.782,0:1679:6:1619:43944:131 1/1:-1554.96,-210.32,0:770:6:734:19188:154 1/1:-5234.96,-713.059,0:2451:6:2379:62757:91 1/1:-2521.47,-337.2,0:1167:5:1129:30470:70 1/1:-1621.11,-223.912,0:803:6:764:20310:110 1/1:-1903.34,-253.152,0:877:4:848:23168:56 1/1:-3010.64,-395.238,0:1368:5:1332:36377:95 1/1:-1318.69,-186.338,0:635:0:619:16454:0 1/1:-3095.12,-400.896,0:1406:7:1354:36966:138 1/1:-2612.19,-358.794,0:1246:4:1199:31557:56 1/1:-1580.31,-219.409,0:795:8:755:19977:156 1/1:-2495.26,-328.971,0:1134:1:1096:29729:14 1/1:-2539.34,-334.839,0:1200:6:1149:30707:150 1/1:-1493.64,-211.02,0:753:4:719:18505:76 1/1:-1913.14,-258.598,0:914:5:875:23350:77 1/1:-2167.47,-281.778,0:998:5:952:26077:90 1/1:-3361.56,-446.446,0:1563:6:1500:40688:84 1/1:-2600.78,-347.61,0:1220:3:1168:31719:55 1/1:-1958.78,-267.603,0:940:6:905:23795:97 1/1:-2793.38,-360.99,0:1263:7:1225:33596:118 1/1:-2865.2,-381.505,0:1334:6:1286:34630:84 1/1:-2371.69,-327.653,0:1151:5:1107:28673:123 1/1:-2294.69,-300.705,0:1059:6:1023:28149:128 1/1:-2332.91,-319.787,0:1118:4:1073:28485:56 1/1:-1488.3,-197.347,0:698:4:671:17837:74 1/1:-3191.9,-411.589,0:1438:6:1380:38372:84 1/1:-2284.64,-301.168,0:1099:10:1041:27712:178 1/1:-2388.41,-315.114,0:1103:4:1070:29001:103 1/1:-2585.29,-342.277,0:1201:8:1153:31039:134 1/1:-3194.12,-424.21,0:1482:4:1428:38479:82 1/1:-2376.92,-316.411,0:1102:3:1063:28397:55 1/1:-2489.21,-340.041,0:1198:6:1151:30567:119 1/1:-1533.5,-203.33,0:707:3:685:18421:42 1/1:-2222.87,-299.251,0:1033:3:997:26868:55 1/1:-3236.71,-432.243,0:1513:7:1458:38849:138 1/1:-2917.62,-382.926,0:1356:6:1304:35067:141 1/1:-1883,-268.337,0:951:5:914:24047:105 1/1:-3086.03,-414.545,0:1457:8:1403:37820:138 1/1:-2766.96,-372.109,0:1310:5:1254:33196:101 1/1:-1612.65,-224.9,0:787:2:753:19968:35 1/1:-2011.6,-264.401,0:943:5:898:24204:108 1/1:-2869.35,-383.454,0:1330:3:1284:34461:60 1/1:-1165.1,-160.508,0:579:5:557:14678:97 1/1:-1742.15,-238.115,0:843:5:807:21224:83 1/1:-2734.51,-362.872,0:1257:4:1213:33079:69 1/1:-1287.27,-182.424,0:631:0:606:16163:0 1/1:-3274.42,-441.739,0:1542:4:1478:39733:56 1/1:-2214.21,-293.706,0:1040:5:993:26444:83 1/1:-1382.41,-189.601,0:671:6:647:17370:98 1/1:-3212.51,-421.542,0:1488:6:1429:38946:122 1/1:-2700.05,-358.571,0:1257:4:1206:32418:69 1/1:-1094.98,-157.097,0:545:1:523:13818:14 1/1:-2532.97,-329.341,0:1167:9:1127:30458:161 1/1:-2062.68,-280.786,0:988:2:939:25003:28 1/1:-2232.93,-298.924,0:1040:4:997:26996:56 1/1:-2449.21,-329.413,0:1166:6:1118:29935:122 1/1:-3563.81,-463.427,0:1614:6:1565:42859:109 1/1:-2825.72,-379.463,0:1339:5:1281:34245:99 1/1:-1144.68,-180.099,0:640:2:607:15142:41 1/1:-2097.69,-283.753,0:997:4:950:25219:69 1/1:-2945.63,-393.662,0:1373:6:1325:35883:97 1/1:-2955.55,-394.899,0:1366:5:1324:35429:77 1/1:-2769.32,-367.533,0:1296:7:1247:33645:124 1/1:-1529.72,-206.451,0:716:1:689:18625:14 1/1:-1579.57,-215.674,0:766:4:727:19265:56 1/1:-2598.99,-344.625,0:1203:7:1169:31553:111 1/1:-2818.04,-375.34,0:1325:7:1269:34209:129 1/1:-2949.86,-407.389,0:1423:5:1370:35880:92 1/1:-2055.71,-277.258,0:978:6:939:25620:110 1/1:-1995.28,-275.549,0:962:3:927:24615:49 1/1:-2316.72,-301.026,0:1085:7:1035:28117:159 1/1:-1865.36,-243.984,0:854:2:822:22721:46 1/1:-2650.18,-357.43,0:1252:5:1201:31957:70 1/1:-1456.32,-195.206,0:698:6:669:17763:116 1/1:-2217.92,-293.259,0:1048:7:1009:27275:200 1/1:-3441.37,-455.474,0:1602:10:1548:41687:179 1/1:-2252.83,-295.556,0:1088:8:1029:27432:190 1/1:-2952.56,-391.153,0:1353:5:1315:35425:88 1/1:-2665.07,-356.706,0:1257:7:1204:32701:111 1/1:-2702.2,-369.229,0:1296:5:1239:32785:88 . 1/1:-3328.9,-393.446,0:1326:0:1307:38874:0:0,1307 1/1:-3420.67,-396.581,0:1355:3:1329:40048:55:3,1329 1/1:-3620.14,-419.125,0:1441:2:1411:42339:72:2,1411 1/1:-1980.26,-230.233,0:779:1:768:22779:14:1,768 1/1:-2615.18,-304.488,0:1043:2:1020:30686:41:2,1020 1/1:-3417.47,-396.337,0:1345:3:1326:39791:42:3,1326 1/1:-3214.53,-374.627,0:1270:1:1254:37538:36:1,1254 1/1:-3293.94,-384.415,0:1304:0:1277:38532:0:0,1277 1/1:-2888.35,-336.152,0:1148:3:1129:33630:64:3,1129 1/1:-3168.8,-374.481,0:1269:0:1244:37153:0:0,1244 1/1:-3339.51,-383.599,0:1323:4:1296:39380:87:4,1296 1/1:-2556.18,-295.857,0:1000:1:986:29796:14:1,986 1/1:-2773.93,-321.342,0:1098:3:1079:32491:49:3,1079 1/1:-2931.04,-337.681,0:1146:2:1128:34035:28:2,1128 1/1:-3454.63,-397.464,0:1368:5:1338:40476:106:5,1338 1/1:-3100.7,-363.303,0:1243:1:1208:36286:14:1,1208 1/1:-3292.67,-381.183,0:1309:3:1282:38684:64:3,1282 1/1:-2732.58,-316.902,0:1085:3:1062:31735:42:3,1062 1/1:-2921.41,-336.626,0:1155:3:1134:34009:64:3,1134 1/1:-3371.28,-391.288,0:1333:2:1304:39563:28:2,1304 chr1 236883421 . C T 19078.74 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=690;CIGAR=1X;DP=82736;DPB=695;DPRA=0;EPP=8.56172;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=39.7826;MQMR=23;NS=1;NUMALT=1;ODDS=953.67;PAIRED=0.966667;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=21833;QR=14;RO=1;RPL=388;RPP=26.286;RPPR=5.18177;RPR=302;RUN=1;SAF=376;SAP=15.1076;SAR=314;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon4:c.C378T:p.N126N,ACTN2:NM_001278343:exon4:c.C378T:p.N126N;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9377;esp6500siv2_ea=0.9953;esp6500siv2_all=0.9377;esp6500siv2_ea=0.9953;1000g2015aug_all=0.920727;avsnp147=rs1341863;Kaviar_AF=0.949224;Kaviar_AC=146752;Kaviar_AN=154602;ExAC_ALL=0.9624;ExAC_AFR=0.8184;ExAC_AMR=0.8618;ExAC_EAS=0.9812;ExAC_FIN=0.9868;ExAC_NFE=0.9953;ExAC_OTH=0.9758;ExAC_SAS=0.9703;CLNALLELEID=53107;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2823;dpsi_zscore=-1.619;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9618;gnomAD_exome_AFR=0.8160;gnomAD_exome_AMR=0.8706;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=0.9799;gnomAD_exome_FIN=0.9881;gnomAD_exome_NFE=0.9951;gnomAD_exome_OTH=0.9684;gnomAD_exome_SAS=0.9707;gnomAD_genome_ALL=0.9373;gnomAD_genome_AFR=0.8084;gnomAD_genome_AMR=0.8900;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.9790;gnomAD_genome_FIN=0.9871;gnomAD_genome_NFE=0.9949;gnomAD_genome_OTH=0.9755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1868.43,-206.797,0:695:1:690:21833:14 1/1:-2368.89,-266.049,0:895:1:887:28025:14 1/1:-2033.13,-231.179,0:778:1:771:24166:14 1/1:-1480.67,-164.964,0:552:0:548:17456:0 1/1:-2122.98,-242.883,0:816:1:810:25141:14 1/1:-2248.4,-253.166,0:849:0:841:26456:0 1/1:-1941.69,-216.742,0:725:0:720:22828:0 1/1:-2088.39,-234.455,0:789:2:783:24647:28 1/1:-1691.46,-192.659,0:644:0:640:19993:0 1/1:-2271.1,-257.983,0:862:0:857:27001:0 1/1:-2063.84,-237.513,0:795:0:789:24602:0 1/1:-1587.43,-180.016,0:604:0:598:18673:0 1/1:-1904.97,-214.032,0:720:0:711:22422:0 1/1:-1627.94,-183.026,0:611:0:608:19001:0 1/1:-1690.45,-190.251,0:640:0:632:20062:0 1/1:-2801.5,-313.974,0:1048:0:1043:33007:0 1/1:-1588.41,-180.919,0:606:0:601:19025:0 1/1:-3425.72,-379.298,0:1267:0:1260:40228:0 1/1:-1945.97,-217.344,0:726:0:722:22961:0 1/1:-1558.11,-174.982,0:598:2:594:18483:50 1/1:-1346.86,-156.536,0:526:0:520:16097:0 1/1:-2254.4,-254.972,0:855:0:847:26751:0 1/1:-1375.21,-158.104,0:531:1:525:16126:14 1/1:-2277.05,-250.758,0:834:0:833:26723:0 1/1:-2211.17,-249.253,0:834:0:828:26200:0 1/1:-1560.23,-182.97,0:614:1:611:18659:14 1/1:-1942.29,-218.849,0:731:0:727:22935:0 1/1:-1887.06,-207.449,0:714:3:707:22603:82 1/1:-1274.57,-146,0:489:0:485:15042:0 1/1:-1446.63,-160.395,0:542:1:536:17098:14 1/1:-1648.24,-182.424,0:612:0:606:19430:0 1/1:-2271.44,-256.276,0:853:1:851:26955:14 1/1:-2058.35,-228.425,0:773:1:762:24118:14 1/1:-1880.5,-211.876,0:712:1:707:22312:14 1/1:-1855.91,-211.87,0:713:1:707:22083:14 1/1:-2194.29,-247.49,0:852:3:837:26271:60 1/1:-2208.02,-250.156,0:836:0:831:26022:0 1/1:-2519.07,-282.065,0:945:0:937:29941:0 1/1:-1949.39,-218.548,0:732:0:726:23028:0 1/1:-996.242,-116.499,0:393:0:387:12055:0 1/1:-2482.85,-275.791,0:932:1:922:29585:36 1/1:-1673.83,-188.144,0:632:0:625:19604:0 1/1:-1733.56,-193.863,0:648:0:644:20408:0 1/1:-2303.42,-256.76,0:864:1:856:27104:14 1/1:-2689.8,-300.127,0:1001:0:997:31720:0 1/1:-1953.43,-219.15,0:730:0:728:23384:0 1/1:-1808.6,-202.894,0:680:0:674:21300:0 1/1:-1132.17,-129.744,0:433:0:431:13504:0 1/1:-1915.48,-213.731,0:715:0:710:22709:0 1/1:-2267.89,-256.162,0:857:1:854:26845:14 1/1:-2158.83,-243.463,0:816:1:812:25630:14 1/1:-1862.62,-211.61,0:714:1:709:21971:32 1/1:-2339.68,-261.541,0:879:1:872:27670:14 1/1:-2012.42,-223.608,0:755:1:746:23732:14 1/1:-1641.25,-187.241,0:626:0:622:19482:0 1/1:-1519.91,-169.781,0:568:0:564:17831:0 1/1:-1992.22,-224.267,0:748:0:745:23519:0 1/1:-1286.75,-144.193,0:481:0:479:15315:0 1/1:-1549.27,-177.608,0:597:0:590:18433:0 1/1:-1809.27,-205.302,0:683:0:682:21456:0 1/1:-1448.05,-164.964,0:552:0:548:17030:0 1/1:-2473.31,-279.657,0:937:0:929:29205:0 1/1:-1466.51,-163.158,0:547:0:542:17248:0 1/1:-1637.28,-186.639,0:625:0:620:19468:0 1/1:-2611.87,-298.622,0:998:0:992:31219:0 1/1:-2041.9,-226.074,0:758:0:751:24060:0 1/1:-1344.13,-155.03,0:518:0:515:15965:0 1/1:-2360.89,-264.356,0:885:1:878:27759:21 1/1:-1374.02,-152.622,0:510:0:507:16028:0 1/1:-2065.34,-236.008,0:792:0:784:24652:0 1/1:-1690.71,-191.756,0:642:0:637:19934:0 1/1:-2609.63,-291.698,0:971:0:969:30514:0 1/1:-2828.16,-315.78,0:1054:0:1049:33190:0 1/1:-1383.05,-163.76,0:551:0:544:16272:0 1/1:-1854.54,-212.226,0:708:0:705:21974:0 1/1:-2355.27,-265.207,0:891:0:881:27924:0 1/1:-2292.5,-260.09,0:868:0:864:27157:0 1/1:-2536.79,-287.183,0:959:0:954:29973:0 1/1:-1440.22,-162.556,0:546:0:540:16979:0 1/1:-1545.31,-178.21,0:594:0:592:18529:0 1/1:-1920.36,-218.548,0:732:0:726:22817:0 1/1:-2381.38,-268.458,0:900:1:895:28398:14 1/1:-2045.65,-230.89,0:771:0:767:24230:0 1/1:-1965.55,-226.074,0:759:0:751:23354:0 1/1:-1631.23,-187.23,0:632:1:625:19520:14 1/1:-1641.07,-187.843,0:629:0:624:19365:0 1/1:-1643.32,-188.746,0:633:0:627:19657:0 1/1:-2314.06,-265.809,0:884:0:883:27474:0 1/1:-1037.43,-120.412,0:403:0:400:12467:0 1/1:-2275.84,-259.488,0:866:0:862:26824:0 1/1:-2974.1,-330.591,0:1107:1:1098:34971:14 1/1:-1634.33,-181.22,0:607:0:602:19253:0 1/1:-2515.31,-277.074,0:937:1:930:29531:36 1/1:-2150.34,-242.329,0:812:0:805:25379:0 1/1:-2056.13,-231.492,0:777:0:769:24261:0 . 1/1:-1585.22,-170.684,0:571:0:567:18467:0:0,567 1/1:-2144.03,-226.977,0:762:0:754:24834:0:0,754 1/1:-2180.11,-235.104,0:787:0:781:25243:0:0,781 1/1:-1051.59,-115.596,0:384:0:384:12298:0:0,384 1/1:-1642.79,-177.006,0:592:0:588:19168:0:0,588 1/1:-2254.28,-245.64,0:824:0:816:26318:0:0,816 1/1:-1717.41,-185.736,0:621:0:617:19915:0:0,617 1/1:-1835.04,-198.078,0:664:0:658:21386:0:0,658 1/1:-1692.18,-183.929,0:617:0:611:19661:0:0,611 1/1:-1532.59,-167.062,0:564:1:558:18011:14:1,558 1/1:-2039.95,-220.624,0:741:1:734:23736:14:1,734 1/1:-1502.37,-164.061,0:549:0:545:17543:0:0,545 1/1:-1700.15,-184.23,0:620:0:612:19630:0:0,612 1/1:-1614.58,-172.791,0:578:0:574:18790:0:0,574 1/1:-1748.47,-189.95,0:634:0:631:20442:0:0,631 1/1:-1891.65,-207.109,0:693:0:688:22060:0:0,688 1/1:-2118.45,-228.181,0:764:0:758:24628:0:0,758 1/1:-1692.37,-183.026,0:612:0:608:19634:0:0,608 1/1:-1761.58,-190.251,0:633:0:632:20413:0:0,632 1/1:-1384.81,-149.593,0:501:1:498:16054:14:1,498 chr1 236891098 . G A 4473.07 . AB=0.498239;ABP=3.02559;AC=1;AF=0.5;AN=2;AO=283;CIGAR=1X;DP=568;DPB=568;DPRA=0;EPP=27.94;EPPR=15.8783;GTI=0;LEN=1;MEANALT=3;MQM=34.159;MQMR=35.6259;NS=1;NUMALT=1;ODDS=1029;PAIRED=0.929329;PAIREDR=0.82963;PAO=0;PQA=0;PQR=0;PRO=0;QA=8482;QR=8213;RO=270;RPL=231;RPP=248.862;RPPR=235.438;RPR=52;RUN=1;SAF=77;SAP=130.697;SAR=206;SF=0;SRF=85;SRP=83.4352;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000599042;avsnp147=rs372356643;Kaviar_AF=0.0017011;Kaviar_AC=263;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0002;ExAC_AMR=0.0021;ExAC_EAS=0.0002;ExAC_FIN=0.0032;ExAC_NFE=0.0016;ExAC_OTH=0.0033;ExAC_SAS=0.0046;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9188;dpsi_zscore=1.471;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0044;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-496.971,0,-488.843:568:270:283:8482:8213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236894647 . G A 8422.11 . AB=0;ABP=0;AC=74;AF=1;AN=124;AO=738;CIGAR=1X;DP=44603;DPB=749;DPRA=0;EPP=23.7717;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.6734;MQMR=42;NS=1;NUMALT=1;ODDS=983.666;PAIRED=0.96477;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=22348;QR=140;RO=4;RPL=558;RPP=423.429;RPPR=5.18177;RPR=180;RUN=1;SAF=239;SAP=201.915;SAR=499;SF=0,1;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.3980;esp6500siv2_ea=0.3102;esp6500siv2_all=0.3980;esp6500siv2_ea=0.3102;1000g2015aug_all=0.491613;avsnp147=rs819640;Kaviar_AF=0.375403;Kaviar_AC=58038;Kaviar_AN=154602;ExAC_ALL=0.3882;ExAC_AFR=0.5668;ExAC_AMR=0.3970;ExAC_EAS=0.5539;ExAC_FIN=0.2963;ExAC_NFE=0.3134;ExAC_OTH=0.3786;ExAC_SAS=0.5221;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0431;dpsi_zscore=0.266;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3813;gnomAD_exome_AFR=0.5714;gnomAD_exome_AMR=0.3843;gnomAD_exome_ASJ=0.3670;gnomAD_exome_EAS=0.5485;gnomAD_exome_FIN=0.2945;gnomAD_exome_NFE=0.3086;gnomAD_exome_OTH=0.3676;gnomAD_exome_SAS=0.5225;gnomAD_genome_ALL=0.3865;gnomAD_genome_AFR=0.5585;gnomAD_genome_AMR=0.3616;gnomAD_genome_ASJ=0.3775;gnomAD_genome_EAS=0.5471;gnomAD_genome_FIN=0.2978;gnomAD_genome_NFE=0.2938;gnomAD_genome_OTH=0.3487;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1903.67,-211.003,0:749:4:738:22348:140 0/1:-824.446,0,-982.003:881:463:411:12597:14636 1/1:-2052.14,-227.229,0:828:7:814:24282:226 0/1:-458.182,0,-481.146:467:236:226:7071:7143 . . 0/1:-616.06,0,-692.911:643:330:298:9401:10332 1/1:-1770.15,-161.495,0:744:22:711:21281:685 . . 0/1:-643.936,0,-777.419:718:369:339:10091:11637 0/1:-653.643,0,-686.939:638:316:314:9847:10111 0/1:-475.284,0,-775.588:620:354:255:7843:11312 . . 0/1:-1094.36,0,-1039.56:1054:500:545:16524:15678 . 0/1:-1086.25,0,-1609.38:1321:739:555:17059:23329 1/1:-2051.15,-227.918,0:801:5:792:24152:136 . . 0/1:-860.647,0,-814.222:825:394:419:12802:12297 0/1:-345.276,0,-415.858:413:208:196:5857:6340 . . 0/1:-525.558,0,-534.693:545:263:275:8209:8085 . 0/1:-849.198,0,-876.804:821:409:405:12717:12943 . . 0/1:-674.99,0,-659.733:657:320:332:10112:10066 0/1:-989.353,0,-848.815:901:417:469:14675:12957 0/1:-711.542,0,-573.032:636:282:339:10386:9014 . 1/1:-2128.96,-233.576,0:825:4:813:25240:140 . . 0/1:-778.06,0,-1007.05:881:468:398:12202:14819 0/1:-716.294,0,-724.509:725:354:354:10730:11016 . 0/1:-827.492,0,-994.854:917:482:423:12874:14656 0/1:-473.284,0,-678.146:575:319:245:7603:9988 . 0/1:-926.733,0,-657.272:798:343:445:13652:10489 . 0/1:-615.879,0,-746.882:687:356:322:9623:11096 0/1:-616.95,0,-671.106:654:319:312:9372:10126 . 1/1:-1580.78,-167.417,0:622:10:609:18608:246 0/1:-667.79,0,-957.946:812:456:346:10623:14134 0/1:-659.618,0,-838.181:745:391:341:10235:12232 0/1:-677.015,0,-629.269:675:322:346:10305:9752 0/1:-998.885,0,-888.247:916:425:488:14915:13637 . 1/1:-1313.06,-145.988,0:538:6:527:15779:163 0/1:-545.764,0,-504.544:513:248:263:8073:7695 0/1:-699.375,0,-890.769:786:419:357:10845:13168 1/1:-962.551,-100.623,0:384:5:375:11614:163 0/1:-517.332,0,-586.199:545:283:254:7892:8751 1/1:-1590.72,-159.991,0:664:13:645:19267:444 0/1:-478.859,0,-517.156:484:238:241:7330:7698 0/1:-869.218,0,-933.676:894:449:435:13285:13983 . . 1/1:-2376.36,-247.939,0:930:11:910:28101:331 . . . 0/1:-460.567,0,-599.033:504:271:227:7158:8696 . . . 0/1:-814.139,0,-962.828:893:459:416:12631:14386 1/1:-1002.49,-127.402,0:454:4:447:12254:118 . . 0/1:-786.564,0,-807.483:809:388:410:12105:12098 0/1:-910.594,0,-863.355:874:422:439:13622:13079 . . 0/1:-777.09,0,-784.34:779:375:394:11920:11924 0/1:-788.13,0,-873.273:805:413:382:11990:12906 . . 1/1:-1452.54,-142.038,0:598:13:580:17500:422 0/1:-657.906,0,-584.398:618:288:321:9818:9065 0/1:-515.047,0,-624.734:572:297:265:8112:9169 . 0/1:-495.47,0,-407.372:454:204:243:7423:6425 . . 0/1:-596.094,0,-664.809:631:321:297:9205:9961 . 0/1:-723.086,0,-870.07:784:401:367:11213:12818 . . 0/1:-735.132,0,-759.269:691:345:342:10768:11125:345,342 . . 0/1:-423.053,0,-581.901:460:252:203:6458:8318:252,203 . 0/1:-1061.33,0,-1059.39:995:496:490:15641:15661:496,490 0/1:-768.875,0,-943.585:782:414:363:11491:13456:414,363 0/1:-893.506,0,-1104.71:919:482:426:13497:15831:482,426 . . . 0/1:-626.901,0,-774.543:640:342:291:9529:11094:342,291 . 0/1:-740.232,0,-914.884:772:412:356:11300:13231:412,356 . 0/1:-747.029,0,-859.063:737:377:345:11220:12424:377,345 . . . . chr1 236899042 . G A 10359.35 . AB=0.437925;ABP=42.3701;AC=29;AF=0.5;AN=52;AO=515;CIGAR=1X;DP=29648;DPB=1176;DPRA=0;EPP=6.55634;EPPR=4.53275;GTI=0;LEN=1;MEANALT=3;MQM=38.0816;MQMR=38.6709;NS=1;NUMALT=1;ODDS=1878.52;PAIRED=0.941748;PAIREDR=0.944356;PAO=0;PQA=0;PQR=0;PRO=0;QA=14537;QR=18870;RO=629;RPL=406;RPP=374.939;RPPR=291.347;RPR=109;RUN=1;SAF=218;SAP=29.3252;SAR=297;SF=0,1;SRF=278;SRP=21.4074;SRR=351;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.1566;esp6500siv2_ea=0.1356;esp6500siv2_all=0.1566;esp6500siv2_ea=0.1356;1000g2015aug_all=0.195887;avsnp147=rs2288600;Kaviar_AF=0.15646;Kaviar_AC=24189;Kaviar_AN=154602;ExAC_ALL=0.1667;ExAC_AFR=0.2034;ExAC_AMR=0.2191;ExAC_EAS=0.1983;ExAC_FIN=0.1389;ExAC_NFE=0.1386;ExAC_OTH=0.1448;ExAC_SAS=0.2160;CLNALLELEID=172789;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1737;dpsi_zscore=0.670;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1615;gnomAD_exome_AFR=0.2020;gnomAD_exome_AMR=0.2027;gnomAD_exome_ASJ=0.1196;gnomAD_exome_EAS=0.1881;gnomAD_exome_FIN=0.1408;gnomAD_exome_NFE=0.1341;gnomAD_exome_OTH=0.1437;gnomAD_exome_SAS=0.2122;gnomAD_genome_ALL=0.1547;gnomAD_genome_AFR=0.1984;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.1926;gnomAD_genome_FIN=0.1466;gnomAD_genome_NFE=0.1276;gnomAD_genome_OTH=0.1324;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-868.783,0,-1245.51:1176:629:515:14537:18870 . . . 0/1:-686.505,0,-968.254:943:499:414:11545:14766 . . . . . . . . . . . 1/1:-2571.41,-292.48,0:1149:19:1093:31494:504 . . . . . . 0/1:-691.263,0,-824.428:946:488:426:11704:13845 . . . . . . . . . . . 0/1:-867.169,0,-1169.5:1157:600:508:14400:17870 . . . . . 0/1:-1011.36,0,-1124.99:1238:619:569:16206:17770 . 0/1:-1010.58,0,-1087.57:1192:589:573:16312:17474 . . 0/1:-872.286,0,-946.987:1018:500:489:14001:14750 0/1:-1222.97,0,-1465.75:1505:772:687:19914:22523 . 0/1:-775.873,0,-1077.27:1174:601:525:13868:17131 0/1:-1169.29,0,-1273.15:1438:706:679:19197:20436 . . . . 1/1:-1415.1,-159.207,0:695:20:641:17675:468 0/1:-713.761,0,-732.375:820:403:389:11409:11651 . 0/1:-560.953,0,-570.568:715:334:343:9545:9534 . . . . . . . . . 1/1:-2583.91,-306.71,0:1196:21:1123:31579:464 . 0/1:-1098.68,0,-1204.57:1352:666:642:17972:19307 0/1:-590.232,0,-452.222:693:301:365:9933:8198 . . 0/1:-1139.37,0,-1258.95:1360:675:639:18315:19662 0/1:-1210.44,0,-1295.35:1458:706:696:19756:20759 . . . . . 0/1:-897.195,0,-953.789:1071:531:500:14308:15302 . . . . . . . 0/1:-918.004,0,-1092.35:1175:587:543:15419:17185 . 0/1:-1157.94,0,-1291.54:1416:703:671:18616:20512 . . 0/1:-1251.28,0,-1630.59:1471:788:646:19703:23870:788,646 . . 0/1:-743.228,0,-834.599:818:414:381:11524:12487:414,381 . 0/1:-1229.44,0,-1594.58:1448:778:635:19053:23446:778,635 . . . . . 0/1:-1002.55,0,-1015.77:1024:499:496:15250:15156:499,496 . . . . . . . . chr1 236900554 . C T 4226.29 . AB=0.45466;ABP=17.1878;AC=10;AF=0.5;AN=20;AO=361;CIGAR=1X;DP=7200;DPB=794;DPRA=0;EPP=151.278;EPPR=78.1699;GTI=0;LEN=1;MEANALT=3;MQM=35.4238;MQMR=36.773;NS=1;NUMALT=1;ODDS=1102.89;PAIRED=0.894737;PAIREDR=0.947991;PAO=0;PQA=0;PQR=0;PRO=0;QA=10592;QR=12884;RO=423;RPL=353;RPP=718.965;RPPR=321.293;RPR=8;RUN=1;SAF=96;SAP=174.809;SAR=265;SF=0;SRF=122;SRP=167.493;SRR=301;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0195;esp6500siv2_ea=0.0266;esp6500siv2_all=0.0195;esp6500siv2_ea=0.0266;1000g2015aug_all=0.00539137;avsnp147=rs148335592;Kaviar_AF=0.0153879;Kaviar_AC=2379;Kaviar_AN=154602;ExAC_ALL=0.0158;ExAC_AFR=0.0049;ExAC_AMR=0.0134;ExAC_EAS=0.0001;ExAC_FIN=0.0093;ExAC_NFE=0.0236;ExAC_OTH=0.0138;ExAC_SAS=0.0031;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1289;dpsi_zscore=-0.530;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0155;gnomAD_exome_AFR=0.0041;gnomAD_exome_AMR=0.0140;gnomAD_exome_ASJ=0.0306;gnomAD_exome_EAS=5.853e-05;gnomAD_exome_FIN=0.0079;gnomAD_exome_NFE=0.0230;gnomAD_exome_OTH=0.0236;gnomAD_exome_SAS=0.0039;gnomAD_genome_ALL=0.0138;gnomAD_genome_AFR=0.0043;gnomAD_genome_AMR=0.0114;gnomAD_genome_ASJ=0.0385;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0075;gnomAD_genome_NFE=0.0231;gnomAD_genome_OTH=0.0119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . 0/1:-612.298,0,-805.984:794:423:361:10592:12884 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-453.965,0,-468.638:499:247:246:7441:7887 0/1:-677.538,0,-900.005:829:444:371:11440:14288 . . 0/1:-563.347,0,-644.031:640:335:296:9213:10730 . . . . . . . . . . . 0/1:-666.17,0,-748.559:774:397:365:11171:12420 . 0/1:-467.809,0,-630.43:596:320:269:7997:9842 . . . . . . . . . . . . . . . 0/1:-676.72,0,-1123.34:975:556:403:12001:17384 . . . . . . . . . . . . . . . 0/1:-593.534,0,-790.422:757:399:346:10566:12912 . . . 0/1:-505.849,0,-805.204:728:406:304:8956:12555 0/1:-450.523,0,-688.328:608:338:264:7929:11082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236902592 . TGC TGG 15169.70 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=663;CIGAR=2M1X;DP=727;DPB=735;DPRA=0;EPP=94.353;EPPR=8.80089;GTI=0;LEN=1;MEANALT=7;MQM=33.9457;MQMR=23;NS=1;NUMALT=1;ODDS=900.687;PAIRED=0.941176;PAIREDR=0.833333;PAO=13;PQA=268;PQR=99;PRO=4;QA=19687;QR=164;RO=6;RPL=304;RPP=12.9178;RPPR=4.45795;RPR=359;RUN=1;SAF=418;SAP=101.034;SAR=245;SF=1;SRF=5;SRP=8.80089;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1538.92,-199.174,0:727:6:663:19687:164:6,663 . . . . . . . . . . . . chr1 236902593 . GC GG 14691.48 . AB=0;ABP=0;AC=24;AF=1;AN=24;AO=704;CIGAR=1M1X;DP=8236;DPB=751.5;DPRA=0;EPP=55.138;EPPR=5.18177;GTI=0;LEN=1;MEANALT=6;MQM=34.8423;MQMR=42;NS=1;NUMALT=1;ODDS=975.651;PAIRED=0.944602;PAIREDR=1;PAO=1.5;PQA=36.5;PQR=36.5;PRO=1.5;QA=20509;QR=29;RO=1;RPL=312;RPP=22.751;RPPR=5.18177;RPR=392;RUN=1;SAF=441;SAP=100.739;SAR=263;SF=1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1640.89,-211.439,0:750:1:704:20509:29:1,704 1/1:-1837.14,-228.464,0:804:3:756:22404:51:3,756 . 1/1:-1381.7,-177.57,0:615:1:584:16814:23:1,584 . 1/1:-1614.73,-203.376,0:710:1:673:19714:14:1,673 . . 1/1:-1366.35,-175.714,0:640:3:595:17343:77:3,595 1/1:-1553.95,-192.012,0:721:6:673:19292:166:6,673 . 1/1:-1323.78,-159.581,0:621:7:571:16269:192:7,571 . 1/1:-1526.12,-200.285,0:725:4:673:19153:89:4,673 . 1/1:-1548.72,-201.591,0:725:2:676:19277:43:2,676 1/1:-1406.5,-185.736,0:641:0:607:17335:0:0,607 1/1:-1304.43,-168.384,0:595:2:556:16093:39:2,556 1/1:-1425.68,-183.129,0:689:5:636:18141:142:5,636 chr1 236902594 . C G 7124.07 . AB=0.403419;ABP=50.4078;AC=159;AF=0.5;AN=198;AO=236;CIGAR=1X;DP=61595;DPB=585;DPRA=0;EPP=58.9901;EPPR=32.7011;GTI=0;LEN=1;MEANALT=3;MQM=27.6864;MQMR=32.5146;NS=1;NUMALT=1;ODDS=486.999;PAIRED=0.919492;PAIREDR=0.961165;PAO=0;PQA=0;PQR=0;PRO=0;QA=5490;QR=8090;RO=309;RPL=137;RPP=16.2968;RPPR=11.6189;RPR=99;RUN=1;SAF=150;SAP=40.6982;SAR=86;SF=0,1;SRF=177;SRP=17.2408;SRR=132;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.7775;esp6500siv2_ea=0.7763;esp6500siv2_all=0.7775;esp6500siv2_ea=0.7763;1000g2015aug_all=0.767572;avsnp147=rs2288601;Kaviar_AF=0.763173;Kaviar_AC=117988;Kaviar_AN=154602;ExAC_ALL=0.7753;ExAC_AFR=0.7838;ExAC_AMR=0.7462;ExAC_EAS=0.7994;ExAC_FIN=0.8076;ExAC_NFE=0.7749;ExAC_OTH=0.7907;ExAC_SAS=0.7654;CLNALLELEID=53119;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.0651;dpsi_zscore=-1.922;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7755;gnomAD_exome_AFR=0.7769;gnomAD_exome_AMR=0.7539;gnomAD_exome_ASJ=0.7739;gnomAD_exome_EAS=0.7995;gnomAD_exome_FIN=0.8000;gnomAD_exome_NFE=0.7764;gnomAD_exome_OTH=0.7782;gnomAD_exome_SAS=0.7636;gnomAD_genome_ALL=0.7845;gnomAD_genome_AFR=0.7795;gnomAD_genome_AMR=0.7560;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.8040;gnomAD_genome_FIN=0.7925;gnomAD_genome_NFE=0.7852;gnomAD_genome_OTH=0.7867;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-231.057,0,-458.566:585:309:236:5490:8090 0/1:-426.184,0,-505.268:732:333:352:8270:8985 0/1:-356.26,0,-382.574:602:276:286:6943:7014 1/1:-650.883,-104.894,0:398:6:371:9001:97 1/1:-917.928,-146.021,0:591:15:537:13043:303 1/1:-1248.3,-208.864,0:812:17:727:17435:256 0/1:-327.271,0,-339.076:563:250:284:6728:6451 1/1:-1093.79,-186.555,0:711:9:650:15558:139 1/1:-1004.2,-157.44,0:591:8:541:13270:130 1/1:-1067.5,-165.5,0:656:16:603:14864:291 1/1:-882.769,-151.846,0:567:7:523:12584:105 1/1:-1032.34,-164.088,0:616:6:559:13694:91 1/1:-921.391,-147.595,0:597:13:548:12937:257 1/1:-564.684,-98.6196,0:404:9:358:8113:146 1/1:-915.695,-144.154,0:554:9:511:12508:166 0/1:-487.55,0,-568.032:914:413:442:10396:10614 1/1:-677.381,-115.226,0:418:7:393:9858:105 0/1:-851.614,0,-801.922:1321:571:666:16110:14929 . 1/1:-607.536,-109.253,0:404:4:377:9075:63 1/1:-748.079,-117.462,0:449:8:410:10176:130 0/1:-466.378,0,-507.425:825:361:410:9430:9477 1/1:-527.518,-83.7299,0:329:7:299:7461:138 1/1:-1285.45,-205.488,0:777:12:717:17447:208 1/1:-958.878,-153.678,0:585:10:546:13065:184 0/1:-213.473,0,-338.18:483:248:200:4961:6521 1/1:-971.004,-152.729,0:600:12:555:13310:225 1/1:-1002.69,-159.626,0:626:13:571:14153:226 1/1:-621.277,-102.22,0:399:11:370:9145:185 1/1:-764.575,-119.906,0:452:11:421:10198:198 1/1:-928.217,-147.184,0:566:16:522:12958:224 1/1:-1473.27,-233.538,0:918:18:847:20143:342 0/1:-445.17,0,-494.14:728:320:355:8834:8759 1/1:-1010.76,-152.81,0:582:5:537:13297:117 1/1:-1154.08,-193.451,0:714:10:669:16401:191 0/1:-442.272,0,-451.231:760:321:377:8635:8252 0/1:-403.871,0,-508.979:706:336:320:7763:8867 0/1:-371.528,0,-425.482:679:305:326:7565:7926 1/1:-942.49,-162.631,0:613:10:568:13516:158 1/1:-770.574,-117.85,0:441:6:407:10026:84 1/1:-1302.32,-214.036,0:820:13:765:18180:257 1/1:-936.675,-154.208,0:583:12:539:13250:175 1/1:-1068.61,-171.506,0:653:10:600:14233:166 0/1:-390.225,0,-407.869:659:294:319:7495:7525 1/1:-1518.93,-235.849,0:886:13:824:20284:239 0/1:-380.022,0,-453.604:683:315:321:7497:8346 1/1:-1041.93,-164.269,0:656:17:596:14050:313 1/1:-684.153,-101.919,0:384:7:360:9177:98 0/1:-303.834,0,-323.131:564:242:278:6207:6136 0/1:-402.683,0,-556.456:792:373:357:8296:9793 1/1:-1041.91,-173.971,0:662:12:614:15025:215 0/1:-343.35,0,-352.736:605:261:307:7306:7207 0/1:-503.468,0,-595.246:869:395:422:10109:10621 1/1:-1101.55,-179.326,0:703:14:638:15075:262 0/1:-158.407,0,-233.884:369:168:171:4167:4544 1/1:-769.454,-125.814,0:481:8:448:11103:143 0/1:-443.552,0,-456.342:752:337:367:8383:8470 . 0/1:-224.413,0,-290.536:440:206:192:4436:5306 0/1:-313.357,0,-358.296:574:262:281:7015:6731 0/1:-160.97,0,-224.545:330:158:148:3592:4105 1/1:-1225.78,-192.837,0:763:20:696:16927:384 1/1:-932.938,-149.961,0:546:7:517:12535:136 1/1:-502.416,-78.8279,0:322:8:294:7325:152 0/1:-489.553,0,-588.339:859:400:415:9861:10465 1/1:-1041.3,-171.165,0:643:9:599:14309:166 1/1:-452.165,-76.666,0:282:3:260:6629:42 1/1:-1048.64,-164.75,0:638:15:586:14575:294 0/1:-299.8,0,-288.83:479:204:249:5976:5332 1/1:-1146.54,-183.81,0:718:16:652:15736:244 0/1:-378.71,0,-385.794:638:277:324:7490:7308 1/1:-1413.69,-218.503,0:814:13:753:18846:182 0/1:-435.317,0,-526.561:783:358:377:9081:9423 0/1:-89.0721,0,-233.224:318:175:121:2718:4605 1/1:-865.22,-141.646,0:529:6:488:11605:102 1/1:-1299.93,-215.384,0:771:5:728:17747:83 0/1:-469.94,0,-458.964:769:334:378:9105:8630 . 1/1:-711.896,-108.086,0:420:10:386:9928:140 1/1:-635.148,-106.353,0:399:4:375:8825:100 1/1:-1154.31,-178.045,0:720:17:662:15892:327 1/1:-1071.91,-182.685,0:676:7:627:15115:98 1/1:-1127.71,-187.374,0:690:8:639:15023:165 0/1:-319.576,0,-415.285:622:294:296:6799:7707 1/1:-802.614,-126.239,0:479:8:441:10883:119 1/1:-853.698,-137.309,0:533:9:486:11674:158 1/1:-886.356,-142.711,0:525:7:498:12049:120 1/1:-1054.22,-175.084,0:674:10:603:14552:171 0/1:-238.557,0,-217.269:369:172:175:4355:4236 1/1:-1033.51,-171.023,0:656:14:605:14533:216 1/1:-1464.21,-233.073,0:892:17:827:19858:357 0/1:-331.59,0,-406.787:615:286:289:6729:7404 1/1:-1443.18,-230.464,0:858:13:795:19654:195 0/1:-273.704,0,-499.249:669:341:281:6193:8883 1/1:-1102.25,-180.561,0:702:18:647:15131:301 . 0/1:-509.691,0,-565.839:672:333:314:8840:9098:333,314 . . 0/1:-310.532,0,-330.329:398:190:189:5271:5212:190,189 . 0/1:-691.469,0,-689.965:857:400:421:12045:11285:400,421 . . 0/1:-593.696,0,-534.88:685:324:340:9637:8835:324,340 . . 0/1:-498.797,0,-402.039:553:239:286:8282:6768:239,286 . 0/1:-515.063,0,-633.421:691:350:310:8751:9898:350,310 . 1/1:-1364.78,-175.756,0:635:5:611:17386:110:5,611 . . . . chr1 236907966 . G A 10940.76 . AB=0.47408;ABP=10.7777;AC=7;AF=0.5;AN=14;AO=631;CIGAR=1X;DP=9886;DPB=1331;DPRA=0;EPP=30.269;EPPR=89.7387;GTI=0;LEN=1;MEANALT=3;MQM=36.4311;MQMR=38.5732;NS=1;NUMALT=1;ODDS=2366.21;PAIRED=0.881141;PAIREDR=0.932203;PAO=0;PQA=0;PQR=0;PRO=0;QA=17536;QR=19985;RO=649;RPL=357;RPP=26.7175;RPPR=18.0299;RPR=274;RUN=1;SAF=256;SAP=51.7428;SAR=375;SF=0;SRF=278;SRP=31.9488;SRR=371;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon12:c.G1296A:p.A432A,ACTN2:NM_001278343:exon12:c.G1296A:p.A432A,ACTN2:NM_001278344:exon14:c.G672A:p.A224A;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0497;esp6500siv2_ea=0.0144;esp6500siv2_all=0.0497;esp6500siv2_ea=0.0144;1000g2015aug_all=0.0347444;avsnp147=rs35956798;Kaviar_AF=0.0180399;Kaviar_AC=2789;Kaviar_AN=154602;ExAC_ALL=0.0182;ExAC_AFR=0.1193;ExAC_AMR=0.0102;ExAC_EAS=0.0002;ExAC_FIN=0.0049;ExAC_NFE=0.0113;ExAC_OTH=0.0156;ExAC_SAS=0.0033;CLNALLELEID=53068;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0230;dpsi_zscore=-0.123;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0155;gnomAD_exome_AFR=0.1194;gnomAD_exome_AMR=0.0108;gnomAD_exome_ASJ=0.0045;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0116;gnomAD_exome_OTH=0.0166;gnomAD_exome_SAS=0.0034;gnomAD_genome_ALL=0.0420;gnomAD_genome_AFR=0.1253;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0109;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-1045.83,0,-1287.51:1331:649:631:17536:19985 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1010.2,0,-1164.61:1243:608:604:16865:18657 0/1:-1449.03,0,-1831.94:1849:943:848:23786:28690 . . . 0/1:-1266.69,0,-1558.36:1667:825:797:21641:25286 . . . . . . . . . . 0/1:-1137.27,0,-1160.25:1365:637:670:18464:19525 . 0/1:-976.439,0,-1110.16:1187:583:569:16173:17850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-924.536,0,-1183.83:1244:623:580:15395:19102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236911012 . G A 5546.32 . AB=0.516315;ABP=4.21482;AC=1;AF=0.5;AN=2;AO=269;CIGAR=1X;DP=521;DPB=521;DPRA=0;EPP=50.8715;EPPR=36.2615;GTI=0;LEN=1;MEANALT=2;MQM=39.5576;MQMR=39.0206;NS=1;NUMALT=1;ODDS=1113.33;PAIRED=0.992565;PAIREDR=0.99177;PAO=0;PQA=0;PQR=0;PRO=0;QA=8488;QR=7769;RO=243;RPL=122;RPP=8.05554;RPPR=3.44817;RPR=147;RUN=1;SAF=97;SAP=48.4175;SAR=172;SF=0;SRF=80;SRP=64.5711;SRR=163;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon13:c.G1452A:p.Q484Q,ACTN2:NM_001278343:exon13:c.G1452A:p.Q484Q,ACTN2:NM_001278344:exon15:c.G828A:p.Q276Q;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs200529923;Kaviar_AF=0.0005498;Kaviar_AC=85;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0010;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=53078;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7074;dpsi_zscore=-1.275;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-572.233,0,-500.773:521:243:269:8488:7769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236914754 . T C 5228.76 . AB=0.46129;ABP=11.0798;AC=1;AF=0.5;AN=2;AO=286;CIGAR=1X;DP=620;DPB=620;DPRA=0;EPP=3.28363;EPPR=20.3888;GTI=0;LEN=1;MEANALT=3;MQM=39.1783;MQMR=37.9908;NS=1;NUMALT=1;ODDS=1203.97;PAIRED=0.972028;PAIREDR=0.895385;PAO=0;PQA=0;PQR=0;PRO=0;QA=8452;QR=10190;RO=325;RPL=180;RPP=44.5872;RPPR=40.5935;RPR=106;RUN=1;SAF=144;SAP=3.04067;SAR=142;SF=0;SRF=170;SRP=4.51363;SRR=155;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0014;1000g2015aug_all=0.00119808;avsnp147=rs148194175;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=198056;CLNDN=Dilated_cardiomyopathy_1AA|not_specified;CLNDISDB=MedGen:C2677338,OMIM:612158|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7311;dpsi_zscore=-1.295;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-535.108,0,-658.046:620:325:286:8452:10190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236917274 . C A 20.69 . AB=0.666667;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=3.0103;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=40;MQMR=23;NS=1;NUMALT=1;ODDS=4.56695;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=50;QR=32;RO=1;RPL=0;RPP=7.35324;RPPR=5.18177;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon16:c.C1867A:p.Q623K,ACTN2:NM_001278343:exon16:c.C1867A:p.Q623K,ACTN2:NM_001278344:exon18:c.C1243A:p.Q415K;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.385;SIFT_pred=T;Polyphen2_HDIV_score=0.271;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.193;Polyphen2_HVAR_pred=B;LRT_score=0.017;LRT_pred=N;MutationTaster_score=0.963;MutationTaster_pred=D;MutationAssessor_score=2.19;MutationAssessor_pred=M;FATHMM_score=-0.37;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_pred=N;VEST3_score=0.448;CADD_raw=2.155;CADD_phred=17.21;DANN_score=0.966;fathmm-MKL_coding_score=0.879;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.482;MetaSVM_pred=T;MetaLR_score=0.305;MetaLR_pred=T;integrated_fitCons_score=0.713;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=0.868;phyloP20way_mammalian=0.934;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=18.905;GDI_full_10282015=.;dpsi_max_tissue=-0.6011;dpsi_zscore=-1.187;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-3.70768,0,-1.34566:3:1:2:50:32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236917283 . C T 34.53 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=50;QR=0;RO=0;RPL=1;RPP=3.0103;RPPR=0;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=ACTN2:NM_001103:exon16:c.C1876T:p.Q626X,ACTN2:NM_001278343:exon16:c.C1876T:p.Q626X,ACTN2:NM_001278344:exon18:c.C1252T:p.Q418X;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=14.373;CADD_phred=45;DANN_score=0.998;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.713;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=0.868;phyloP20way_mammalian=0.934;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.905;GDI_full_10282015=.;dpsi_max_tissue=-49.3848;dpsi_zscore=-3.522;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.65694,-0.60206,0:2:0:2:50:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236917318 . T G 28.22 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=7.35324;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=24;MQMR=3;NS=1;NUMALT=1;ODDS=6.49549;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=41;QR=14;RO=1;RPL=1;RPP=3.0103;RPPR=5.18177;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon16:c.T1911G:p.R637R,ACTN2:NM_001278343:exon16:c.T1911G:p.R637R,ACTN2:NM_001278344:exon18:c.T1287G:p.R429R;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6626;dpsi_zscore=1.282;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3.12198,-0.619965,0:3:1:2:41:14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236917330 . GTT GTG 21.75 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=2M1X;DP=2;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=31.5;MQMR=0;NS=1;NUMALT=1;ODDS=5.0017;PAIRED=0.5;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=41;QR=0;RO=0;RPL=1;RPP=3.0103;RPPR=0;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=ACTN2:NM_001103:exon16:c.1925delT:p.F642fs,ACTN2:NM_001278343:exon16:c.1925delT:p.F642fs,ACTN2:NM_001278344:exon18:c.1301delT:p.F434fs;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3.37633,-0.60206,0:2:0:2:41:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236924298 . T C 7182.42 . AB=0.483978;ABP=5.02821;AC=1;AF=0.5;AN=2;AO=438;CIGAR=1X;DP=905;DPB=905;DPRA=0;EPP=17.467;EPPR=30.5826;GTI=0;LEN=1;MEANALT=3;MQM=36.0411;MQMR=37.6998;NS=1;NUMALT=1;ODDS=1653.81;PAIRED=0.945205;PAIREDR=0.975169;PAO=0;PQA=0;PQR=0;PRO=0;QA=12639;QR=13619;RO=443;RPL=129;RPP=163.64;RPPR=117.755;RPR=309;RUN=1;SAF=279;SAP=74.4012;SAR=159;SF=0;SRF=284;SRP=79.6;SRR=159;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=.;esp6500siv2_all=0.0003;esp6500siv2_ea=.;1000g2015aug_all=0.0275559;avsnp147=rs78961574;Kaviar_AF=0.0074837;Kaviar_AC=1157;Kaviar_AN=154602;ExAC_ALL=0.0076;ExAC_AFR=0.0014;ExAC_AMR=0.0002;ExAC_EAS=0.0935;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0.0055;CLNALLELEID=139992;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1953;dpsi_zscore=0.713;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0079;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0973;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.056e-05;gnomAD_exome_OTH=0.0058;gnomAD_exome_SAS=0.0059;gnomAD_genome_ALL=0.0050;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0901;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-751.245,0,-852.735:905:443:438:12639:13619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 236925844 . G A 8413.54 . AB=0.461105;ABP=14.6657;AC=39;AF=0.5;AN=72;AO=409;CIGAR=1X;DP=33165;DPB=887;DPRA=0;EPP=19.0707;EPPR=46.4638;GTI=0;LEN=1;MEANALT=3;MQM=37.335;MQMR=36.2483;NS=1;NUMALT=1;ODDS=1672.71;PAIRED=0.904645;PAIREDR=0.855876;PAO=0;PQA=0;PQR=0;PRO=0;QA=12121;QR=13982;RO=451;RPL=229;RPP=15.7577;RPPR=33.0594;RPR=180;RUN=1;SAF=169;SAP=29.7741;SAR=240;SF=0,1;SRF=180;SRP=42.8816;SRR=271;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon21:c.G2610A:p.S870S,ACTN2:NM_001278343:exon21:c.G2610A:p.S870S,ACTN2:NM_001278344:exon23:c.G1986A:p.S662S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.1557;esp6500siv2_ea=0.1392;esp6500siv2_all=0.1557;esp6500siv2_ea=0.1392;1000g2015aug_all=0.196086;avsnp147=rs12063382;Kaviar_AF=0.164118;Kaviar_AC=25373;Kaviar_AN=154602;ExAC_ALL=0.1688;ExAC_AFR=0.1919;ExAC_AMR=0.2017;ExAC_EAS=0.1860;ExAC_FIN=0.2220;ExAC_NFE=0.1447;ExAC_OTH=0.1537;ExAC_SAS=0.1991;CLNALLELEID=53102;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1685;gnomAD_exome_AFR=0.1930;gnomAD_exome_AMR=0.1948;gnomAD_exome_ASJ=0.0815;gnomAD_exome_EAS=0.1844;gnomAD_exome_FIN=0.2177;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1603;gnomAD_exome_SAS=0.2007;gnomAD_genome_ALL=0.1656;gnomAD_genome_AFR=0.1811;gnomAD_genome_AMR=0.1862;gnomAD_genome_ASJ=0.06;gnomAD_genome_EAS=0.1999;gnomAD_genome_FIN=0.2156;gnomAD_genome_NFE=0.1429;gnomAD_genome_OTH=0.1537;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-740.238,0,-859.303:887:451:409:12121:13982 . . . . . 0/1:-698.922,0,-840.513:857:422:409:11876:13340 . . . . . . . . . 0/1:-831.317,0,-851.798:934:454:464:13812:14114 . 0/1:-592.698,0,-773.785:763:404:341:10110:12411 . . . . . 0/1:-880.383,0,-917.506:991:482:476:14108:14881 . 0/1:-544.284,0,-666.375:730:373:340:9630:11396 1/1:-1654.07,-179.243,0:744:16:706:20730:446 0/1:-591.278,0,-932.637:849:468:354:10265:14443 0/1:-997.344,0,-1123.05:1142:565:551:16406:17816 . . 0/1:-829.063,0,-846.047:939:442:463:13687:13835 0/1:-1041.46,0,-992.445:1135:523:581:16888:16329 . 0/1:-698.557,0,-961.211:906:480:403:12014:15128 0/1:-818.071,0,-848.824:950:461:461:13367:14185 . . . . 0/1:-806.434,0,-899.893:922:457:445:13070:14229 . 0/1:-698.348,0,-1195.13:1020:595:402:12307:18566 0/1:-752.125,0,-985.932:959:495:442:12866:15814 . 0/1:-727.687,0,-851.075:843:431:396:11817:13367 . . 0/1:-769.3,0,-760.173:929:432:472:13487:13187 . 0/1:-1014.72,0,-1223.6:1234:619:577:17012:19616 . . . . 0/1:-662.532,0,-731.848:757:377:363:10801:12011 0/1:-1009.15,0,-1052.4:1146:548:560:16675:17162 0/1:-482.534,0,-632.527:651:339:291:8697:10512 . . 0/1:-563.709,0,-590.356:702:340:337:9781:10292 . 0/1:-781.272,0,-1173.42:1085:590:461:13730:18437 . . . . 0/1:-617.163,0,-1106.27:945:537:377:11004:17027 1/1:-2844.38,-319.237,0:1263:24:1202:35869:698 0/1:-896.696,0,-1045.41:1081:545:516:15230:16837 0/1:-380.363,0,-591.458:619:337:260:7295:9937 . . 0/1:-960.5,0,-1018.25:1102:532:536:15771:16599 0/1:-874.545,0,-1023.28:1064:541:504:14903:16798 0/1:-623.557,0,-592.132:680:320:348:10056:9874 . . . . . 0/1:-711.696,0,-863.611:887:450:420:11916:13923 . . . . 0/1:-671.252,0,-983.87:931:490:410:11911:15219 . 1/1:-1874.95,-227.32,0:843:9:802:23353:239 . . . . . . . . . . . . . . 0/1:-846.949,0,-955.35:892:447:424:12952:14215:447,424 . . 0/1:-810.41,0,-807.896:783:375:401:12189:12042:375,401 . . . . . . chr1 237205892 . G A 279.27 . AB=0.47561;ABP=3.434;AC=1;AF=0.5;AN=2;AO=39;CIGAR=1X;DP=82;DPB=82;DPRA=0;EPP=3.06598;EPPR=6.8707;GTI=0;LEN=1;MEANALT=3;MQM=21.6154;MQMR=21.5;NS=1;NUMALT=1;ODDS=64.3043;PAIRED=0.641026;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=1018;QR=1133;RO=36;RPL=26;RPP=12.42;RPPR=3.25157;RPR=13;RUN=1;SAF=26;SAP=12.42;SAR=13;SF=0;SRF=23;SRP=9.04217;SRR=13;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;1000g2015aug_all=0.000998403;avsnp147=rs376110883;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0014;ExAC_AMR=0.0087;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0;ExAC_SAS=0.0022;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.783e-05;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-35.5525,0,-41.2589:82:36:39:1018:1133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237494291 . C T 7363.40 . AB=0.485083;ABP=4.75947;AC=2;AF=0.5;AN=4;AO=439;CIGAR=1X;DP=1709;DPB=905;DPRA=0;EPP=6.1018;EPPR=17.2952;GTI=0;LEN=1;MEANALT=3;MQM=38.9157;MQMR=39.5761;NS=1;NUMALT=1;ODDS=1715.43;PAIRED=0.970387;PAIREDR=0.974239;PAO=0;PQA=0;PQR=0;PRO=0;QA=12408;QR=11915;RO=427;RPL=183;RPP=29.3697;RPPR=5.70048;RPR=256;RUN=1;SAF=245;SAP=15.8759;SAR=194;SF=0;SRF=258;SRP=43.2919;SRR=169;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770574179;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=6.635e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.004e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2533;dpsi_zscore=0.818;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.376e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-791.587,0,-758.592:905:427:439:12408:11915 . . . . . . . . . . . . . . . . . 0/1:-703.239,0,-704.217:804:381:389:11074:10924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237519223 . ATTTGTTTGTTTGT ATTTGTTTGTTTGTTTGT 3181.30 . AB=0.412252;ABP=43.4054;AC=1;AF=0.5;AN=2;AO=249;CIGAR=1M4I13M;DP=604;DPB=721.929;DPRA=0;EPP=35.4603;EPPR=3.04067;GTI=0;LEN=4;MEANALT=54;MQM=39.49;MQMR=41.1399;NS=1;NUMALT=1;ODDS=732.522;PAIRED=0.939759;PAIREDR=0.98951;PAO=46.5;PQA=1096;PQR=1096;PRO=46.5;QA=6475;QR=8873;RO=286;RPL=59;RPP=152.667;RPPR=3.49622;RPR=190;RUN=1;SAF=172;SAP=81.7153;SAR=77;SF=0;SRF=205;SRP=119.754;SRR=81;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-353.018,0,-561.653:604:286:249:6475:8873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237527615 . G A 8135.83 . AB=0.509843;ABP=3.86521;AC=2;AF=0.5;AN=4;AO=518;CIGAR=1X;DP=1808;DPB=1016;DPRA=0;EPP=87.5384;EPPR=94.6119;GTI=0;LEN=1;MEANALT=3;MQM=40.3958;MQMR=40.1883;NS=1;NUMALT=1;ODDS=1966.39;PAIRED=0.940154;PAIREDR=0.958159;PAO=0;PQA=0;PQR=0;PRO=0;QA=15283;QR=13688;RO=478;RPL=148;RPP=209.61;RPPR=163.572;RPR=370;RUN=1;SAF=228;SAP=19.1245;SAR=290;SF=0;SRF=215;SRP=13.477;SRR=263;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0009;1000g2015aug_all=0.00459265;avsnp147=rs74877254;Kaviar_AF=0.00152;Kaviar_AC=235;Kaviar_AN=154602;ExAC_ALL=0.0025;ExAC_AFR=0.0097;ExAC_AMR=0.0041;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0021;ExAC_OTH=0.0072;ExAC_SAS=0.0005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7571;dpsi_zscore=-1.817;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0084;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0133;gnomAD_exome_EAS=7.744e-05;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0041;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0030;gnomAD_genome_AFR=0.0083;gnomAD_genome_AMR=0.0037;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0021;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR 0/1:-1027.28,0,-888.342:1016:478:518:15283:13688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-667.4,0,-867.244:792:422:354:10343:12772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237527741 . G T 2618.92 . AB=0.525097;ABP=4.42721;AC=1;AF=0.5;AN=2;AO=136;CIGAR=1X;DP=259;DPB=259;DPRA=0;EPP=23.7032;EPPR=48.929;GTI=0;LEN=1;MEANALT=1;MQM=40.7059;MQMR=41.0732;NS=1;NUMALT=1;ODDS=505.798;PAIRED=0.992647;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4358;QR=3866;RO=123;RPL=103;RPP=81.2472;RPPR=124.63;RPR=33;RUN=1;SAF=17;SAP=169.128;SAR=119;SF=0;SRF=18;SRP=136.635;SRR=105;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00239617;avsnp147=rs144039159;Kaviar_AF=0.000461;Kaviar_AC=12;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6529;dpsi_zscore=1.273;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0088;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-297.567,0,-259.055:259:123:136:4358:3866 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237540615 . A C 8476.49 . AB=0.456559;ABP=12.6321;AC=53;AF=0.5;AN=94;AO=268;CIGAR=1X;DP=36252;DPB=587;DPRA=0;EPP=3.04271;EPPR=3.0103;GTI=0;LEN=1;MEANALT=2;MQM=39.6082;MQMR=40.2405;NS=1;NUMALT=1;ODDS=1103.94;PAIRED=0.973881;PAIREDR=0.993671;PAO=0;PQA=0;PQR=0;PRO=0;QA=7731;QR=9496;RO=316;RPL=153;RPP=14.7103;RPPR=56.2251;RPR=115;RUN=1;SAF=116;SAP=13.5112;SAR=152;SF=0,1;SRF=122;SRP=38.6334;SRR=194;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.3043;esp6500siv2_ea=0.2293;esp6500siv2_all=0.3043;esp6500siv2_ea=0.2293;1000g2015aug_all=0.362819;avsnp147=rs10925391;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;ExAC_ALL=0.3021;ExAC_AFR=0.5118;ExAC_AMR=0.3799;ExAC_EAS=0.4470;ExAC_FIN=0.3758;ExAC_NFE=0.2482;ExAC_OTH=0.3149;ExAC_SAS=0.2278;CLNALLELEID=52959;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.7661;dpsi_zscore=2.388;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2905;gnomAD_exome_AFR=0.5049;gnomAD_exome_AMR=0.3506;gnomAD_exome_ASJ=0.1816;gnomAD_exome_EAS=0.4357;gnomAD_exome_FIN=0.3663;gnomAD_exome_NFE=0.2366;gnomAD_exome_OTH=0.2782;gnomAD_exome_SAS=0.2112;gnomAD_genome_ALL=0.3465;gnomAD_genome_AFR=0.5055;gnomAD_genome_AMR=0.3146;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0.4346;gnomAD_genome_FIN=0.3557;gnomAD_genome_NFE=0.2498;gnomAD_genome_OTH=0.3092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-489.932,0,-640.421:587:316:268:7731:9496 . 0/1:-983.245,0,-919.32:974:464:506:14837:14088 . 0/1:-865.455,0,-858.596:908:443:461:13240:13096 0/1:-690.334,0,-890.765:804:431:369:10922:13016 0/1:-929.192,0,-1011.48:1027:512:510:14409:15339 0/1:-695.346,0,-831.602:801:416:379:10991:12433 1/1:-1873.59,-189.016,0:806:25:776:22422:644 . . 0/1:-732.595,0,-772.31:755:373:379:11081:11588 . . 0/1:-1697.29,0,-1746.8:1752:871:874:25796:26390 0/1:-706.366,0,-753.106:750:379:365:10796:11280 . . 0/1:-915.153,0,-1005.95:978:494:480:14070:15108 . 0/1:-902.093,0,-899.841:954:462:483:13805:13725 . 0/1:-572.694,0,-721.008:674:362:311:9123:10825 . . . . . 0/1:-983.455,0,-1126.73:1086:565:518:15269:16838 . 0/1:-504.916,0,-598.102:569:295:273:7823:8913 . . . . . . 0/1:-1187.09,0,-1150.17:1207:574:627:17994:17532 0/1:-814.519,0,-814.173:847:418:427:12474:12523 . . . 1/1:-2205.85,-232.185,0:921:25:894:26288:574 1/1:-2010.06,-226.197,0:840:15:822:23673:334 0/1:-484.162,0,-426.827:462:213:249:7272:6514 0/1:-593.336,0,-702.443:661:347:311:9179:10505 0/1:-915.938,0,-931.092:945:465:473:13969:14044 . . . . . . . 0/1:-528.093,0,-517.021:540:260:280:8107:7933 . . . . . . . . 0/1:-449.126,0,-491.198:503:256:246:7101:7548 . 0/1:-661.805,0,-564.336:635:297:336:9882:8803 . 0/1:-842.24,0,-789.735:863:413:443:12686:12234 0/1:-824.018,0,-1105.52:957:518:433:12946:16013 . 0/1:-598.78,0,-557.243:668:322:340:9517:9321 . 0/1:-843.631,0,-976.114:967:496:465:13299:14831 . . . 0/1:-522.116,0,-560.316:568:286:280:7992:8462 . 0/1:-948.743,0,-967.019:975:483:486:14334:14738 . . 1/1:-1594.85,-139.831,0:695:33:659:19466:810 0/1:-719.852,0,-777.587:796:405:388:11234:11943 0/1:-625.108,0,-724.662:720:376:342:9821:11114 . 0/1:-371.856,0,-496.727:444:241:199:5912:7397 0/1:-769.587,0,-951.19:902:475:419:12084:14261 . 0/1:-668.681,0,-810.94:776:405:363:10479:12180 . . . . 0/1:-528.674,0,-790.433:614:355:257:8150:11195:355,257 . . . 1/1:-1410.87,-138.92,0:531:11:518:16419:233:11,518 . 0/1:-599.672,0,-677.373:607:316:287:9055:9870:316,287 . . 0/1:-647.972,0,-648.981:617:309:306:9669:9639:309,306 0/1:-654.011,0,-804.036:688:364:319:9884:11580:364,319 0/1:-582.724,0,-536.879:527:254:273:8502:7988:254,273 . . 0/1:-548.853,0,-681.45:601:322:275:8543:9982:322,275 . 0/1:-591.906,0,-820.663:668:376:292:9135:11773:376,292 . 1/1:-1486.76,-155.335,0:557:9:548:17450:148:9,548 0/1:-522.619,0,-570.565:525:270:251:7847:8356:270,251 chr1 237551376 . T A 18798.22 . AB=0.509271;ABP=4.21816;AC=115;AF=0.5;AN=170;AO=824;CIGAR=1X;DP=112207;DPB=1618;DPRA=0;EPP=94.1805;EPPR=39.1904;GTI=0;LEN=1;MEANALT=3;MQM=37.6274;MQMR=38.6436;NS=1;NUMALT=1;ODDS=3409.36;PAIRED=0.936893;PAIREDR=0.932051;PAO=0;PQA=0;PQR=0;PRO=0;QA=24012;QR=23578;RO=780;RPL=426;RPP=5.07636;RPPR=7.4646;RPR=398;RUN=1;SAF=427;SAP=5.38205;SAR=397;SF=0,1;SRF=415;SRP=9.97015;SRR=365;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.5273;esp6500siv2_ea=0.5597;esp6500siv2_all=0.5273;esp6500siv2_ea=0.5597;1000g2015aug_all=0.55651;avsnp147=rs10754602;Kaviar_AF=0.558725;Kaviar_AC=86380;Kaviar_AN=154602;ExAC_ALL=0.5751;ExAC_AFR=0.4653;ExAC_AMR=0.7855;ExAC_EAS=0.6446;ExAC_FIN=0.5519;ExAC_NFE=0.5716;ExAC_OTH=0.5688;ExAC_SAS=0.4781;CLNALLELEID=52986;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5738;dpsi_zscore=-1.162;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5751;gnomAD_exome_AFR=0.4526;gnomAD_exome_AMR=0.7688;gnomAD_exome_ASJ=0.5472;gnomAD_exome_EAS=0.6348;gnomAD_exome_FIN=0.5357;gnomAD_exome_NFE=0.5652;gnomAD_exome_OTH=0.5813;gnomAD_exome_SAS=0.4630;gnomAD_genome_ALL=0.5325;gnomAD_genome_AFR=0.4675;gnomAD_genome_AMR=0.7446;gnomAD_genome_ASJ=0.5033;gnomAD_genome_EAS=0.6148;gnomAD_genome_FIN=0.5416;gnomAD_genome_NFE=0.5458;gnomAD_genome_OTH=0.5662;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1516.8,0,-1494.03:1618:780:824:24012:23578 1/1:-3234.19,-366.784,0:1335:16:1303:38876:392 0/1:-662.015,0,-980.676:833:472:356:10658:14502 0/1:-1257.86,0,-1560.96:1492:782:695:20417:23633 . 0/1:-1113.3,0,-1244.88:1211:621:583:17399:18773 0/1:-1372.27,0,-1683.9:1627:851:765:22387:25700 0/1:-1146.99,0,-1196.24:1217:602:608:17980:18330 . 1/1:-3146.29,-331.424,0:1339:32:1303:38101:825 0/1:-1189.62,0,-1370.96:1325:687:630:18892:20921 1/1:-3148.96,-345.098,0:1327:26:1289:37807:628 0/1:-898.033,0,-1166.86:1117:590:519:14704:17893 0/1:-938.925,0,-1070.52:1029:527:493:14767:16060 1/1:-4576.77,-502.186,0:1904:37:1849:55041:810 1/1:-2525.01,-292.086,0:1081:22:1053:30785:443 0/1:-2314.91,0,-3297.43:2903:1607:1273:37368:48830 . 0/1:-980.651,0,-1228.4:1115:581:525:15442:18137 0/1:-1070.56,0,-1176.49:1205:605:590:16820:18477 0/1:-1533.98,0,-1613.36:1632:802:822:23782:24790 0/1:-794.852,0,-798.443:859:410:439:12637:12563 0/1:-1479.37,0,-1961.99:1763:951:798:23458:29171 1/1:-3658.73,-410.144,0:1555:33:1507:43936:703 1/1:-2623.25,-311.631,0:1149:21:1110:32093:360 . . 1/1:-2623.3,-302.343,0:1116:18:1090:31633:362 . 1/1:-2987.75,-332.14,0:1240:22:1210:35694:476 . 1/1:-3519,-375.777,0:1520:41:1471:42723:963 1/1:-2506.57,-273.345,0:1070:26:1036:30429:586 . 0/1:-1457.33,0,-1798.67:1688:892:787:23113:27335 0/1:-966.059,0,-1237.21:1166:627:528:15390:18861 0/1:-1288.9,0,-1347.53:1336:652:673:19702:20242 0/1:-1288.3,0,-1422.75:1407:709:689:20403:21703 0/1:-704.452,0,-852.546:805:414:386:11330:12837 . 0/1:-1145.09,0,-1366.98:1308:679:617:18020:20717 0/1:-1235.3,0,-1430.26:1356:701:651:19319:21557 1/1:-3354.97,-371.69,0:1387:23:1355:39805:525 1/1:-4119.02,-456.088,0:1705:29:1666:49193:634 . 0/1:-1286.43,0,-1487.97:1461:743:702:20462:22936 0/1:-683.974,0,-915.242:825:444:376:11024:13471 . 0/1:-1534.68,0,-1689.25:1682:850:818:24025:25661 0/1:-1381.19,0,-1872.85:1710:923:775:22356:28070 0/1:-1271.58,0,-1407:1462:741:712:20435:22083 0/1:-1489.91,0,-1887.86:1722:905:806:23769:28226 0/1:-1467.22,0,-1648.4:1652:835:808:23108:25478 0/1:-1018.48,0,-1150.26:1167:599:562:16265:17987 0/1:-967.918,0,-1228.47:1136:594:532:15248:18201 1/1:-3388.38,-367.23,0:1425:27:1382:40861:661 1/1:-2087.67,-234.034,0:919:23:880:25629:468 1/1:-2221.08,-248.174,0:917:14:896:26516:290 0/1:-1246.3,0,-1652.47:1506:818:679:19803:24780 . 1/1:-4157.81,-468.799,0:1747:28:1700:49994:590 . 1/1:-2285.53,-281.106,0:983:10:962:27724:169 . 0/1:-1256.37,0,-1847.1:1594:885:696:20498:27334 0/1:-751.228,0,-650.781:761:345:411:11607:10465 1/1:-3513.94,-405.523,0:1460:17:1429:42062:357 . 1/1:-3464.58,-374.103,0:1502:38:1450:41776:852 1/1:-3412.18,-389.301,0:1422:18:1385:40856:409 1/1:-4399.56,-466.754,0:1822:39:1760:52515:874 0/1:-1311.36,0,-1467.84:1487:746:734:20990:22580 0/1:-796.282,0,-976.739:1065:563:494:13487:15605 0/1:-1000.84,0,-1176.09:1132:591:538:15908:17932 . 1/1:-3603.53,-405.798,0:1466:16:1438:43025:360 0/1:-1279.34,0,-1736.69:1535:829:693:20581:25881 . . . 0/1:-1629.81,0,-1601.58:1701:808:884:25464:24724 1/1:-4071.67,-454.461,0:1709:29:1665:49086:649 . 0/1:-926.485,0,-1238.02:1158:612:531:15146:18789 . . . 0/1:-699.841,0,-1015.45:890:494:394:11469:14969 0/1:-1057.76,0,-1448.26:1331:716:608:17353:21895 0/1:-1764.57,0,-1830.17:1850:920:916:27420:28412 . . 0/1:-1317.54,0,-1522.44:1461:748:709:20539:22993 1/1:-3889.8,-438.127,0:1613:30:1571:46484:523 . . . 1/1:-3071.4,-302.559,0:1186:21:1163:36495:612:21,1163 1/1:-1896.51,-183.159,0:742:17:722:22567:452:17,722 . 0/1:-1226.4,0,-1536.27:1303:705:595:18688:22323:705,595 0/1:-1013.08,0,-1133.95:1015:524:486:15150:16533:524,486 0/1:-1324.03,0,-1258.38:1211:581:622:19727:18840:581,622 0/1:-1119.46,0,-1179.03:1098:567:529:16948:17485:567,529 1/1:-2825.95,-287.869,0:1080:16:1058:33181:418:16,1058 0/1:-1262.19,0,-1290.29:1194:602:590:18669:18895:602,590 0/1:-957.896,0,-940.784:903:447:453:14157:13927:447,453 1/1:-2769.12,-280.975,0:1053:16:1034:32702:428:16,1034 0/1:-1036.51,0,-1068.21:1003:504:494:15472:15945:504,494 . 0/1:-1081.1,0,-1217.17:1093:565:524:16334:17894:565,524 0/1:-1306.31,0,-1433.66:1297:668:624:19649:21071:668,624 0/1:-1029.87,0,-1067.16:986:492:490:15487:15720:492,490 0/1:-1071.24,0,-1106.24:1007:514:489:15831:16153:514,489 1/1:-2725.28,-285.029,0:1023:9:1010:31800:258:9,1010 chr1 237551439 . G C 6647.10 . AB=0.463878;ABP=11.9521;AC=1;AF=0.5;AN=2;AO=366;CIGAR=1X;DP=789;DPB=789;DPRA=0;EPP=10.6994;EPPR=3.43618;GTI=0;LEN=1;MEANALT=3;MQM=37.5082;MQMR=38.2082;NS=1;NUMALT=1;ODDS=1530.55;PAIRED=0.967213;PAIREDR=0.932203;PAO=0;PQA=0;PQR=0;PRO=0;QA=11031;QR=12912;RO=413;RPL=198;RPP=8.34999;RPPR=31.0291;RPR=168;RUN=1;SAF=143;SAP=40.9814;SAR=223;SF=0;SRF=183;SRP=14.6248;SRR=230;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon10:c.G729C:p.E243D;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.897;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.459;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.756;MutationTaster_pred=D;MutationAssessor_score=2.42;MutationAssessor_pred=M;FATHMM_score=-2.28;FATHMM_pred=D;PROVEAN_score=-1.94;PROVEAN_pred=N;VEST3_score=0.416;CADD_raw=3.463;CADD_phred=23.0;DANN_score=0.995;fathmm-MKL_coding_score=0.801;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.095;MetaSVM_pred=T;MetaLR_score=0.577;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=0.447;phyloP7way_vertebrate=0.045;phyloP20way_mammalian=0.130;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=8.022;GDI_full_10282015=.;dpsi_max_tissue=0.9548;dpsi_zscore=1.494;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-678.128,0,-844.649:789:413:366:11031:12912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237586384 . T C 10970.47 . AB=0.442419;ABP=37.7701;AC=36;AF=0.5;AN=62;AO=534;CIGAR=1X;DP=29941;DPB=1207;DPRA=0;EPP=3.02657;EPPR=19.4812;GTI=0;LEN=1;MEANALT=3;MQM=38.7041;MQMR=38.9102;NS=1;NUMALT=1;ODDS=2224.79;PAIRED=0.956929;PAIREDR=0.959752;PAO=0;PQA=0;PQR=0;PRO=0;QA=16078;QR=20039;RO=646;RPL=238;RPP=16.6898;RPPR=24.5233;RPR=296;RUN=1;SAF=384;SAP=225.672;SAR=150;SF=0,1;SRF=401;SRP=84.8136;SRR=245;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0879;esp6500siv2_ea=0.0985;esp6500siv2_all=0.0879;esp6500siv2_ea=0.0985;1000g2015aug_all=0.170128;avsnp147=rs16835237;Kaviar_AF=0.13527;Kaviar_AC=20913;Kaviar_AN=154602;ExAC_ALL=0.1403;ExAC_AFR=0.0678;ExAC_AMR=0.3218;ExAC_EAS=0.2704;ExAC_FIN=0.0942;ExAC_NFE=0.1016;ExAC_OTH=0.1437;ExAC_SAS=0.1632;CLNALLELEID=53003;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2975;dpsi_zscore=-0.850;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1466;gnomAD_exome_AFR=0.0667;gnomAD_exome_AMR=0.3101;gnomAD_exome_ASJ=0.1087;gnomAD_exome_EAS=0.2820;gnomAD_exome_FIN=0.0899;gnomAD_exome_NFE=0.0994;gnomAD_exome_OTH=0.1317;gnomAD_exome_SAS=0.1641;gnomAD_genome_ALL=0.0985;gnomAD_genome_AFR=0.0651;gnomAD_genome_AMR=0.2673;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0.2964;gnomAD_genome_FIN=0.0885;gnomAD_genome_NFE=0.0891;gnomAD_genome_OTH=0.1090;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1000.91,0,-1334.15:1207:646:534:16078:20039 1/1:-2407.66,-248.141,0:1000:21:950:28797:535 . . . . . . . . . . 0/1:-577.799,0,-812.397:748:414:324:9676:12658 . . . . . 0/1:-510.589,0,-803.285:669:377:283:8364:11719 . 0/1:-1002.56,0,-1249.94:1124:584:516:15658:18562 . . 0/1:-1036.39,0,-1137.18:1077:536:523:15978:17220 . . 0/1:-1125.83,0,-1166.43:1164:549:587:17468:17665 . . . . 0/1:-846.185,0,-1089.09:983:519:447:13358:16265 . 0/1:-992.994,0,-1060.63:1042:514:509:15306:16218 0/1:-1005.28,0,-1189.82:1104:566:521:15638:17918 . 0/1:-972.727,0,-1167.77:1067:550:501:15134:17683 0/1:-845.283,0,-977.011:940:482:434:13225:14874 0/1:-516.567,0,-651.383:596:304:276:8068:9703 0/1:-1239.69,0,-1282.39:1267:619:626:19101:19675 . 1/1:-2354.82,-250.92,0:932:11:902:27899:277 . . . 0/1:-843.277,0,-927.052:879:438:429:13042:14053 0/1:-567.797,0,-581.694:575:278:285:8555:8879 . . 0/1:-907.033,0,-1144.84:1000:523:467:14089:16795 . . . . . . . . 0/1:-845.558,0,-939.804:885:446:427:13084:14099 . 0/1:-1046.04,0,-1283.13:1183:615:549:16369:19233 . . . 1/1:-2503.15,-272.912,0:1024:13:996:29845:349 . . . 0/1:-931.562,0,-1032.59:1017:502:489:14657:15891 . . . 0/1:-469.866,0,-802.643:692:400:278:8145:12272 . 0/1:-956.396,0,-1232.77:1116:588:511:15241:18610 . . . . 1/1:-2332.68,-225.38,0:967:23:925:28246:692 . . . . . . . . 0/1:-955.846,0,-1039.68:1030:497:512:14958:15602 . . . . . . . . . 0/1:-534.466,0,-709.889:602:324:265:8241:10299:324,265 1/1:-2454.53,-257.388,0:967:11:931:28616:296:11,931 . . . 0/1:-929.42,0,-1255.4:1035:565:458:14214:18032:565,458 . 0/1:-1072.77,0,-1217.11:1090:562:516:16104:17736:562,516 . . . . 0/1:-925.208,0,-1053.45:959:486:455:14039:15429:486,455 . . . . chr1 237608842 . C T 10465.79 . AB=0.458807;ABP=23.7627;AC=5;AF=0.5;AN=10;AO=646;CIGAR=1X;DP=6029;DPB=1408;DPRA=0;EPP=162.758;EPPR=176.778;GTI=0;LEN=1;MEANALT=3;MQM=39.9303;MQMR=40.3448;NS=1;NUMALT=1;ODDS=2657.17;PAIRED=0.962848;PAIREDR=0.962644;PAO=0;PQA=0;PQR=0;PRO=0;QA=18377;QR=19982;RO=696;RPL=389;RPP=61.5795;RPPR=22.9779;RPR=257;RUN=1;SAF=319;SAP=3.22543;SAR=327;SF=0,1;SRF=362;SRP=5.45633;SRR=334;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0060;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0060;1000g2015aug_all=0.00658946;avsnp147=rs182050281;Kaviar_AF=0.0078718;Kaviar_AC=1217;Kaviar_AN=154602;ExAC_ALL=0.0083;ExAC_AFR=0.0011;ExAC_AMR=0.0031;ExAC_EAS=0.0002;ExAC_FIN=0.0014;ExAC_NFE=0.0077;ExAC_OTH=0.0089;ExAC_SAS=0.0255;CLNALLELEID=142641;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0946;dpsi_zscore=0.467;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0037;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0084;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0266;gnomAD_genome_ALL=0.0045;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1184.75,0,-1327.4:1408:696:646:18377:19982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-904.556,0,-1007.13:1058:536:485:14021:15162 . . . . . . . . . . . . . . 0/1:-1260.14,0,-1255.28:1353:657:643:19089:18945 . . . 0/1:-944.821,0,-939.744:1044:500:494:14375:14214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1071.45,0,-1228.91:1166:594:542:16314:17941:594,542 . . . . . . . . . chr1 237617757 . C T 9434.89 . AB=0.466667;ABP=13.1438;AC=123;AF=0.5;AN=188;AO=490;CIGAR=1X;DP=69538;DPB=1050;DPRA=0;EPP=12.3875;EPPR=39.9083;GTI=0;LEN=1;MEANALT=3;MQM=37.8061;MQMR=38.5855;NS=1;NUMALT=1;ODDS=2019.56;PAIRED=0.963265;PAIREDR=0.950884;PAO=0;PQA=0;PQR=0;PRO=0;QA=14313;QR=16024;RO=509;RPL=190;RPP=56.6324;RPPR=50.0446;RPR=300;RUN=1;SAF=232;SAP=6.00605;SAR=258;SF=0,1;SRF=231;SRP=12.4342;SRR=278;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.C1359T:p.S453S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.5119;esp6500siv2_ea=0.6005;esp6500siv2_all=0.5119;esp6500siv2_ea=0.6005;1000g2015aug_all=0.535743;avsnp147=rs3765097;Kaviar_AF=0.569876;Kaviar_AC=88104;Kaviar_AN=154602;ExAC_ALL=0.5755;ExAC_AFR=0.305;ExAC_AMR=0.6026;ExAC_EAS=0.7367;ExAC_FIN=0.5985;ExAC_NFE=0.5907;ExAC_OTH=0.5813;ExAC_SAS=0.5625;CLNALLELEID=52897;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0556;dpsi_zscore=-0.290;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5819;gnomAD_exome_AFR=0.3052;gnomAD_exome_AMR=0.6039;gnomAD_exome_ASJ=0.5850;gnomAD_exome_EAS=0.7291;gnomAD_exome_FIN=0.5915;gnomAD_exome_NFE=0.5953;gnomAD_exome_OTH=0.5683;gnomAD_exome_SAS=0.5589;gnomAD_genome_ALL=0.5238;gnomAD_genome_AFR=0.3184;gnomAD_genome_AMR=0.5897;gnomAD_genome_ASJ=0.6033;gnomAD_genome_EAS=0.7073;gnomAD_genome_FIN=0.5894;gnomAD_genome_NFE=0.5988;gnomAD_genome_OTH=0.5867;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-891.724,0,-1048.73:1050:509:490:14313:16024 0/1:-725.628,0,-878.095:847:424:395:11577:13376 0/1:-502.547,0,-556.641:569:279:271:7998:8687 1/1:-1755.28,-200.619,0:793:11:740:21672:308 0/1:-780.213,0,-936.163:923:467:427:12650:14307 0/1:-486.282,0,-635.338:630:321:280:7931:9876 0/1:-713.038,0,-765.882:802:384:399:11528:12110 0/1:-471.268,0,-745.706:653:357:279:8084:11210 . 0/1:-695.174,0,-721.594:774:364:384:11048:11464 0/1:-682.688,0,-709.91:744:346:371:10972:11049 0/1:-605.407,0,-706.609:679:338:323:9804:10822 1/1:-1427.72,-166.196,0:634:9:602:17572:250 . . 1/1:-1174.37,-146.781,0:537:4:507:14718:91 0/1:-1360.5,0,-1434.41:1495:714:739:21836:22254 0/1:-631.524,0,-808.674:734:382:332:10160:12084 0/1:-576.062,0,-547.87:610:278:314:9468:8850 0/1:-647.879,0,-480.798:600:252:328:9663:7823 0/1:-817.282,0,-1015.14:962:497:441:13084:15585 . 1/1:-2050.11,-243.351,0:862:3:828:24712:77 0/1:-676.805,0,-1048.84:921:505:380:11448:15601 . 0/1:-604.144,0,-708.773:693:348:332:9709:10951 0/1:-796.4,0,-1045.52:972:507:436:12813:16023 0/1:-488.422,0,-606.655:611:312:275:8174:9652 1/1:-1241.43,-140.37,0:525:4:501:15090:132 . 1/1:-2427.31,-275.53,0:1052:11:1007:29463:351 1/1:-1741.38,-194.334,0:753:9:710:21111:258 1/1:-626.251,-60.6844,0:275:7:253:7669:199 0/1:-637.682,0,-802.839:786:391:363:10627:12221 0/1:-654.133,0,-972.432:889:480:376:11000:14712 . 0/1:-783.451,0,-883.354:888:439:416:12500:13739 0/1:-654.867,0,-741.592:780:378:371:10543:11713 0/1:-362.229,0,-386.705:389:192:187:5688:5982 . 0/1:-628.011,0,-548.728:638:283:331:9773:8704 0/1:-699.554,0,-706.312:782:359:398:11657:11161 0/1:-746.806,0,-779.183:786:381:386:11726:12062 0/1:-914.545,0,-1006.75:1011:499:488:14586:15500 1/1:-1814.86,-205.522,0:780:10:746:22124:250 . . 1/1:-1464.92,-165.163,0:624:6:593:17893:172 . 0/1:-833.155,0,-672.262:788:340:424:12658:10656 0/1:-614.479,0,-727.707:758:368:367:10260:11378 0/1:-865.427,0,-1145.11:1083:577:480:14226:17559 0/1:-714.495,0,-890.32:873:448:394:11529:13904 0/1:-537.418,0,-534.765:611:288:301:8672:8683 1/1:-1615.56,-189.162,0:681:6:647:19463:119 0/1:-724.909,0,-730.197:759:359:381:11147:11341 0/1:-357.519,0,-428.226:461:231:214:6029:7035 0/1:-569.147,0,-586.135:618:286:314:9185:9166 . 1/1:-1150.22,-138.888,0:510:4:493:14320:122 0/1:-886.515,0,-1099.35:1052:527:494:14372:16792 1/1:-1629.67,-183.509,0:694:7:661:19781:199 1/1:-1094.63,-123.254,0:490:7:460:13549:196 0/1:-895.219,0,-978.159:992:476:483:14293:15167 . 0/1:-373.564,0,-415.386:458:225:219:6314:6834 1/1:-1937.17,-213.705,0:845:13:800:23510:354 0/1:-550.952,0,-547.74:572:275:284:8696:8445 0/1:-771.708,0,-808.04:865:423:418:12386:12961 0/1:-674.549,0,-685.292:700:332:346:10466:10460 . 1/1:-2028.61,-221.991,0:885:17:848:25142:480 1/1:-972.566,-113.572,0:500:15:465:12913:381 . 1/1:-1961.28,-204.563,0:865:18:813:24354:530 0/1:-666.241,0,-893.815:833:436:368:10814:13491 0/1:-713.431,0,-860.788:855:420:403:11721:13154 0/1:-485.862,0,-639.053:599:312:268:7912:9577 0/1:-342.703,0,-659.969:563:326:217:6193:9838 1/1:-1773.86,-197.598,0:785:14:739:21906:408 0/1:-716.941,0,-770.209:771:375:378:11254:11967 1/1:-2281.89,-254.054,0:957:11:909:27440:289 1/1:-1666.16,-184.513,0:749:14:709:20746:395 0/1:-629.976,0,-604.249:667:311:337:9942:9704 0/1:-559.511,0,-726.933:688:351:306:9036:11031 . . 0/1:-437.611,0,-596.342:532:283:236:7092:8938 0/1:-656.404,0,-802.576:795:406:362:10657:12450 . 0/1:-611.158,0,-671.343:708:336:344:9881:10481 1/1:-1940.16,-214.8,0:842:13:795:23506:345 0/1:-651.146,0,-775.382:781:391:360:10522:12079 0/1:-629.947,0,-914.715:845:450:369:10726:14004 . 1/1:-1849.36,-206.226,0:725:3:705:21703:78:3,705 0/1:-671.601,0,-829.046:729:379:331:10299:12207:379,331 0/1:-722.468,0,-879.331:796:411:366:11175:13071:411,366 . 1/1:-1594.27,-174.657,0:606:2:595:18565:57:2,595 0/1:-786.261,0,-972.883:875:447:404:12362:14392:447,404 0/1:-571.857,0,-777.178:667:355:297:9017:11308:355,297 0/1:-658.471,0,-892.62:772:405:343:10483:12993:405,343 0/1:-658.118,0,-824.702:731:376:334:10356:12030:376,334 0/1:-668.675,0,-648.752:658:319:324:10082:9990:319,324 0/1:-730.138,0,-788.672:736:359:357:11014:11611:359,357 1/1:-1345.79,-141.615,0:529:4:504:15785:140:4,504 . 1/1:-1492.37,-162.092,0:588:5:567:17600:114:5,567 1/1:-1756.75,-199.194,0:708:4:685:20890:100:4,685 0/1:-594.866,0,-779.865:672:357:298:9181:11422:357,298 0/1:-724.115,0,-748.29:733:364:350:10881:11306:364,350 1/1:-1700.38,-190.132,0:669:1:640:19777:32:1,640 1/1:-1646.25,-188.624,0:650:1:635:19160:32:1,635 0/1:-655.26,0,-608.652:611:287:311:9635:9168:287,311 chr1 237619874 . GATTTTTTTTTTTTTTAACG GATTTTTTTTTTTTTTTAACG,TATTTTTTTTTTTTTTAACG 151.65 . AB=0.257028;ABP=258.372;AC=2,0;AF=0.5;AN=40;AO=128;CIGAR=2M1I18M;DP=10159;DPB=535.2;DPRA=0;EPP=20.3821;EPPR=9.52472;GTI=0;LEN=1;MEANALT=85;MQM=31.1172;MQMR=37.8667;NS=1;NUMALT=1;ODDS=188.907;PAIRED=0.921875;PAIREDR=0.933333;PAO=19.0167;PQA=552.233;PQR=581.233;PRO=20.0167;QA=2643;QR=2361;RO=75;RPL=85;RPP=32.9359;RPPR=27.3597;RPR=43;RUN=1;SAF=63;SAP=3.07816;SAR=65;SF=1;SRF=29;SRP=11.3777;SRR=46;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.417332;avsnp147=rs397516518;Kaviar_AF=0.0026132;Kaviar_AC=404;Kaviar_AN=154602;ExAC_ALL=0.3928;ExAC_AFR=0.3574;ExAC_AMR=0.4134;ExAC_EAS=0.4494;ExAC_FIN=0.4109;ExAC_NFE=0.3914;ExAC_OTH=0.3928;ExAC_SAS=0.3646;CLNALLELEID=52917;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3811;gnomAD_exome_AFR=0.3537;gnomAD_exome_AMR=0.3876;gnomAD_exome_ASJ=0.3542;gnomAD_exome_EAS=0.4415;gnomAD_exome_FIN=0.3761;gnomAD_exome_NFE=0.3841;gnomAD_exome_OTH=0.3722;gnomAD_exome_SAS=0.3575;gnomAD_genome_ALL=0.5132;gnomAD_genome_AFR=0.4621;gnomAD_genome_AMR=0.4824;gnomAD_genome_ASJ=0.5524;gnomAD_genome_EAS=0.6559;gnomAD_genome_FIN=0.4457;gnomAD_genome_NFE=0.5398;gnomAD_genome_OTH=0.5210;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1179;dpsi_zscore=-0.501;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-121.776,0,-95.3739,.,.,.:498:75:128,.:2643,.:2361:75,128 0/0:.,.,.,.,.,-896.404:501:442:.,56:.,1100:12769:442,56 0/0:.,.,.,.,.,-984.488:610:525:.,82:.,1654:14785:525,82 0/0:.,.,.,.,.,-675.621:308:288:.,20:.,377:8550:288,20 0/1:-70.6668,0,-118.458,.,.,.:431:82:92,.:1850,.:2509:82,92 0/0:.,.,.,.,.,-1137.16:636:559:.,74:.,1511:16060:559,74 0/0:.,.,.,.,.,-953.138:543:479:.,55:.,1170:13443:479,55 0/0:.,.,.,.,.,-1016.46:554:496:.,54:.,1035:14312:496,54 0/0:.,.,.,.,.,-1139.37:563:524:.,38:.,723:15037:524,38 0/0:.,.,.,.,.,-1011.07:544:481:.,62:.,1196:13773:481,62 0/0:.,.,.,.,.,-1059.85:577:512:.,62:.,1269:14872:512,62 0/0:.,.,.,.,.,-703.093:437:371:.,60:.,1276:10365:371,60 0/0:.,.,.,.,.,-870.919:488:429:.,58:.,1085:12029:429,58 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ATTTTTTTTTTTTTTAACG ATTTTTTTTTTTTTAACG,ATTTTTTTTTTTTTTTAACG,ATTTTTTTTTTTTAACG,TTTTTTTTTTTTTTTAACG 1631.21 . 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G A 7714.68 . AB=0.507177;ABP=3.38433;AC=1;AF=0.5;AN=2;AO=424;CIGAR=1X;DP=836;DPB=836;DPRA=0;EPP=60.5543;EPPR=85.0413;GTI=0;LEN=1;MEANALT=3;MQM=37.7948;MQMR=39.3655;NS=1;NUMALT=1;ODDS=1663.17;PAIRED=0.948113;PAIREDR=0.939086;PAO=0;PQA=0;PQR=0;PRO=0;QA=12569;QR=11702;RO=394;RPL=293;RPP=137.416;RPPR=101.972;RPR=131;RUN=1;SAF=208;SAP=3.33807;SAR=216;SF=0;SRF=210;SRP=6.73597;SRR=184;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon16:c.G1611A:p.L537L;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0575;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0575;esp6500siv2_ea=0.0012;1000g2015aug_all=0.0599042;avsnp147=rs78281932;Kaviar_AF=0.0164681;Kaviar_AC=2546;Kaviar_AN=154602;ExAC_ALL=0.0170;ExAC_AFR=0.1883;ExAC_AMR=0.0087;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0.0112;ExAC_SAS=0.0024;CLNALLELEID=45397;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1787;dpsi_zscore=0.680;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0140;gnomAD_exome_AFR=0.1900;gnomAD_exome_AMR=0.0096;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.496e-05;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0090;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0517;gnomAD_genome_AFR=0.1799;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-798.387,0,-748.349:836:394:424:12569:11702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237620049 . T C 10274.07 . AB=0.454644;ABP=19.5566;AC=113;AF=0.5;AN=178;AO=421;CIGAR=1X;DP=77224;DPB=926;DPRA=0;EPP=47.6209;EPPR=54.0561;GTI=0;LEN=1;MEANALT=3;MQM=38.6033;MQMR=38.8742;NS=1;NUMALT=1;ODDS=1580.11;PAIRED=0.954869;PAIREDR=0.938166;PAO=0;PQA=0;PQR=0;PRO=0;QA=11663;QR=13982;RO=469;RPL=323;RPP=264.129;RPPR=285.482;RPR=98;RUN=1;SAF=199;SAP=5.73882;SAR=222;SF=0,1;SRF=222;SRP=5.90405;SRR=247;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.4634;esp6500siv2_ea=0.5441;esp6500siv2_all=0.4634;esp6500siv2_ea=0.5441;1000g2015aug_all=0.53115;avsnp147=rs2045955;Kaviar_AF=0.542658;Kaviar_AC=83896;Kaviar_AN=154602;ExAC_ALL=0.5514;ExAC_AFR=0.2931;ExAC_AMR=0.5917;ExAC_EAS=0.7990;ExAC_FIN=0.5796;ExAC_NFE=0.5449;ExAC_OTH=0.5580;ExAC_SAS=0.5618;CLNALLELEID=52921;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0723;dpsi_zscore=-0.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5567;gnomAD_exome_AFR=0.2935;gnomAD_exome_AMR=0.5882;gnomAD_exome_ASJ=0.5491;gnomAD_exome_EAS=0.7929;gnomAD_exome_FIN=0.5697;gnomAD_exome_NFE=0.5458;gnomAD_exome_OTH=0.5450;gnomAD_exome_SAS=0.5555;gnomAD_genome_ALL=0.4984;gnomAD_genome_AFR=0.3107;gnomAD_genome_AMR=0.5624;gnomAD_genome_ASJ=0.57;gnomAD_genome_EAS=0.7823;gnomAD_genome_FIN=0.5657;gnomAD_genome_NFE=0.5521;gnomAD_genome_OTH=0.5643;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-726.811,0,-912.801:926:469:421:11663:13982 0/1:-566.691,0,-850.206:786:422:336:9323:12629 0/1:-570.29,0,-482.872:577:262:307:8749:7576 1/1:-2061,-261.648,0:906:1:875:24691:36 0/1:-1066.65,0,-1187.13:1237:603:594:16623:18182 0/1:-664.701,0,-609.46:720:335:372:10334:9885 0/1:-865.8,0,-779.49:951:421:490:13718:12524 0/1:-709.294,0,-727.898:799:382:395:11120:11377 . 0/1:-595.674,0,-635.699:710:341:345:9526:10154 0/1:-701.616,0,-931.02:930:476:414:11471:14160 0/1:-689.646,0,-752.095:833:395:407:11134:11641 1/1:-1705.35,-220.408,0:781:3:747:20550:60 . . 1/1:-1313.39,-170.784,0:594:1:573:15790:27 0/1:-1436.37,0,-1593.47:1717:830:823:22901:24556 . 0/1:-529.852,0,-567.268:636:292:318:8471:8840 0/1:-607.904,0,-707.881:765:386:349:9787:11226 0/1:-944.039,0,-836.931:1007:462:510:14576:13421 . 0/1:-957.912,0,-1066.35:1115:544:532:14910:16402 0/1:-834.039,0,-999.909:1025:513:480:13374:15329 . 0/1:-910.412,0,-793.7:918:417:483:13908:12430 . . 1/1:-1292.48,-147.565,0:606:12:567:15838:301 . 1/1:-2540.44,-305.646,0:1104:13:1064:30121:328 1/1:-2338.22,-292.173,0:1055:7:1008:28000:151 1/1:-496.506,-39.7288,0:242:12:219:6289:349 0/1:-713.953,0,-973.327:925:484:414:11783:14707 0/1:-859.298,0,-1031.38:1031:520:477:13640:15653 . 0/1:-957.5,0,-842.77:984:440:518:14720:13186 0/1:-605.38,0,-659.481:742:360:356:10001:10329 0/1:-423.855,0,-347.887:433:190:231:6511:5558 . 0/1:-637.402,0,-751.436:790:400:366:10306:11589 0/1:-721.288,0,-1000.01:943:497:418:11755:14876 0/1:-637.62,0,-801.307:817:424:358:10234:12264 0/1:-842.662,0,-1186.26:1136:606:497:13976:18231 1/1:-2178.27,-266.18,0:947:7:917:26068:134 . . 1/1:-1657.26,-206.905,0:760:5:725:20186:145 . 0/1:-740.911,0,-939.787:960:488:438:12289:14379 0/1:-775.694,0,-665.603:863:379:445:12263:10865 0/1:-847.202,0,-1057.25:1048:535:485:13518:16082 0/1:-686.73,0,-1009.27:987:519:426:11476:15357 0/1:-551.724,0,-550.571:644:300:313:8803:8991 1/1:-1548.06,-193.895,0:692:6:661:18594:84 0/1:-685.917,0,-889.259:884:448:396:11111:13414 0/1:-447.359,0,-477.778:555:266:268:7322:7813 0/1:-497.202,0,-654.028:656:334:299:8235:9983 . 1/1:-1359.16,-175.55,0:639:6:605:16529:102 0/1:-963.978,0,-1050.83:1133:543:560:15511:16404 1/1:-1554.31,-192.58,0:696:7:671:18637:151 1/1:-1502.91,-181.657,0:666:5:642:17892:149 0/1:-988.908,0,-993.764:1123:525:557:15616:15572 . 0/1:-371.621,0,-454.853:494:241:227:6285:7137 1/1:-2233.41,-262.074,0:958:7:918:26463:193 0/1:-579.879,0,-692.636:692:345:328:9234:10441 0/1:-810.201,0,-845.325:959:464:467:12918:13628 0/1:-813.893,0,-755.549:857:399:435:12357:12000 . 1/1:-2075.08,-242.534,0:927:14:881:24985:312 0/1:-448.808,0,-586.877:660:324:311:7822:9686 . 0/1:-807.535,0,-823.663:942:441:454:12622:12887 0/1:-893.283,0,-957.07:1041:505:498:13928:14936 0/1:-937.438,0,-940.91:1023:490:507:14696:14785 0/1:-601.684,0,-528.145:652:284:335:9428:8460 0/1:-595.299,0,-591.839:683:320:341:9441:9478 0/1:-820.449,0,-897.58:988:481:475:13124:14138 0/1:-837.724,0,-978.035:1013:514:473:13496:15130 1/1:-2469.27,-283.348,0:1096:19:1049:29531:474 1/1:-1727.12,-205.881,0:766:7:736:20770:217 0/1:-677.305,0,-716.085:813:388:393:10939:11420 0/1:-645.455,0,-730.964:802:380:391:10638:11285 . . 0/1:-454.154,0,-439.613:514:238:261:7169:6942 0/1:-765.248,0,-832.267:910:443:438:12437:13180 . 0/1:-710.738,0,-684.991:774:354:399:11189:10677 1/1:-2262.82,-272.834,0:1021:12:985:27370:309 0/1:-1030.99,0,-728.526:995:411:552:15529:12069 0/1:-805.934,0,-963.753:1000:494:470:13289:14782 . 1/1:-2455.97,-249.706,0:971:14:945:29095:440:14,945 0/1:-911.118,0,-1035.74:959:494:450:14139:15303:494,450 0/1:-857.657,0,-1052.14:962:510:436:13358:15821:510,436 . 1/1:-2178.77,-242.007,0:863:5:848:25791:167:5,848 0/1:-1124.96,0,-1100.71:1108:543:547:17225:16697:543,547 0/1:-735.136,0,-858.208:806:414:376:11530:12942:414,376 0/1:-948.684,0,-961.601:974:482:468:14483:14587:482,468 . . 0/1:-1045.5,0,-822.992:932:427:488:15272:13065:427,488 1/1:-1857.67,-203.14,0:731:5:715:21983:154:5,715 . 0/1:-879.232,0,-788.957:830:389:423:13180:12080:389,423 1/1:-2695.97,-289.802,0:1071:10:1038:31771:290:10,1038 0/1:-1021.38,0,-834.55:928:416:495:15212:12857:416,495 0/1:-858.993,0,-941.428:871:438:423:13383:13924:438,423 1/1:-2110.57,-216.504,0:831:9:801:25258:311:9,801 1/1:-2160.53,-238.343,0:837:4:821:25338:113:4,821 0/1:-1088.97,0,-907.572:976:455:512:15932:13950:455,512 chr1 237655173 . A T 6201.79 . AB=0.523156;ABP=5.72557;AC=8;AF=0.5;AN=16;AO=305;CIGAR=1X;DP=5519;DPB=583;DPRA=0;EPP=12.757;EPPR=3.04247;GTI=0;LEN=1;MEANALT=3;MQM=39.7574;MQMR=40.7481;NS=1;NUMALT=1;ODDS=1263.28;PAIRED=0.993443;PAIREDR=0.97037;PAO=0;PQA=0;PQR=0;PRO=0;QA=8947;QR=8495;RO=270;RPL=171;RPP=12.757;RPPR=18.5806;RPR=134;RUN=1;SAF=190;SAP=43.0579;SAR=115;SF=0;SRF=167;SRP=35.9523;SRR=103;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon18:c.A1776T:p.G592G;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0242;esp6500siv2_ea=0.0180;esp6500siv2_all=0.0242;esp6500siv2_ea=0.0180;1000g2015aug_all=0.0215655;avsnp147=rs72549414;Kaviar_AF=0.0136544;Kaviar_AC=2111;Kaviar_AN=154602;ExAC_ALL=0.0287;ExAC_AFR=0.0578;ExAC_AMR=0.0374;ExAC_EAS=0;ExAC_FIN=0.0450;ExAC_NFE=0.0369;ExAC_OTH=0.0191;ExAC_SAS=0.0080;CLNALLELEID=52922;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.3101;dpsi_zscore=-2.223;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0201;gnomAD_exome_AFR=0.0420;gnomAD_exome_AMR=0.0174;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0322;gnomAD_exome_NFE=0.0244;gnomAD_exome_OTH=0.0253;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0271;gnomAD_genome_AFR=0.0404;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0283;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-596.138,0,-561.391:583:270:305:8947:8495 0/1:-712.476,0,-607.145:677:305:367:10621:9500 . . 0/1:-632.645,0,-665.597:655:318:332:9655:9982 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-885.467,0,-1075:963:499:456:13530:15749 0/1:-569.487,0,-815.977:706:384:315:9042:12055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-438.568,0,-607.405:512:279:230:6870:8900 . . . . 0/1:-649.759,0,-767.647:711:361:346:10095:11322 . . . . . 0/1:-603.904,0,-859.367:712:390:318:9406:12426 . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237656289 . C T 3263.17 . AB=0.452632;ABP=10.4162;AC=4;AF=0.5;AN=8;AO=172;CIGAR=1X;DP=1789;DPB=380;DPRA=0;EPP=45.4803;EPPR=21.9731;GTI=0;LEN=1;MEANALT=3;MQM=35.0872;MQMR=38.9505;NS=1;NUMALT=1;ODDS=605.543;PAIRED=0.947674;PAIREDR=0.940594;PAO=0;PQA=0;PQR=0;PRO=0;QA=5120;QR=6349;RO=202;RPL=44;RPP=92.0912;RPPR=114.852;RPR=128;RUN=1;SAF=141;SAP=155.771;SAR=31;SF=0;SRF=154;SRP=123.796;SRR=48;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon19:c.C1863T:p.H621H;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0083;1000g2015aug_all=0.00219649;avsnp147=rs17686573;Kaviar_AF=0.0048124;Kaviar_AC=744;Kaviar_AN=154602;ExAC_ALL=0.0076;ExAC_AFR=0.0013;ExAC_AMR=0.0124;ExAC_EAS=0;ExAC_FIN=0.0013;ExAC_NFE=0.0117;ExAC_OTH=0.0073;ExAC_SAS=0.0023;CLNALLELEID=45398;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1668;dpsi_zscore=-0.618;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0047;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0072;gnomAD_exome_OTH=0.0076;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0052;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-300.512,0,-424.723:380:202:172:5120:6349 . . . . . . . . . . . . . . . 0/1:-353.453,0,-620.413:537:297:226:6546:9309 . . . . 0/1:-483.977,0,-513.983:545:259:275:7984:8031 . 0/1:-282.411,0,-342.644:327:170:146:4558:5270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237664004 . C G 3899.13 . AB=0.49359;ABP=3.17734;AC=3;AF=0.5;AN=6;AO=231;CIGAR=1X;DP=1357;DPB=468;DPRA=0;EPP=42.7266;EPPR=8.64439;GTI=0;LEN=1;MEANALT=3;MQM=39.1082;MQMR=38.8649;NS=1;NUMALT=1;ODDS=881.608;PAIRED=0.974026;PAIREDR=0.990991;PAO=0;PQA=0;PQR=0;PRO=0;QA=6192;QR=6395;RO=222;RPL=95;RPP=18.8122;RPPR=3.1668;RPR=136;RUN=1;SAF=132;SAP=13.2472;SAR=99;SF=0;SRF=144;SRP=45.6181;SRR=78;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0088;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0088;esp6500siv2_ea=0.0124;1000g2015aug_all=0.00459265;avsnp147=rs147479514;Kaviar_AF=0.0090555;Kaviar_AC=1400;Kaviar_AN=154602;ExAC_ALL=0.0103;ExAC_AFR=0.0021;ExAC_AMR=0.0055;ExAC_EAS=0;ExAC_FIN=0.0289;ExAC_NFE=0.0124;ExAC_OTH=0.0167;ExAC_SAS=0.0066;CLNALLELEID=45399;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2089;dpsi_zscore=-0.704;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0096;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0034;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0273;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0156;gnomAD_exome_SAS=0.0054;gnomAD_genome_ALL=0.0128;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0266;gnomAD_genome_NFE=0.0180;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-396.796,0,-402.512:468:222:231:6192:6395 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-315.188,0,-321.854:390:180:188:5094:5157 . 0/1:-495.333,0,-420.178:499:219:264:7470:6644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237670140 . A G 6977.57 . AB=0;ABP=0;AC=153;AF=1;AN=206;AO=538;CIGAR=1X;DP=51060;DPB=579;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=37.5428;MQMR=32.375;NS=1;NUMALT=1;ODDS=685.591;PAIRED=0.936803;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=14673;QR=218;RO=8;RPL=283;RPP=6.17468;RPPR=3.0103;RPR=255;RUN=1;SAF=196;SAP=89.0458;SAR=342;SF=0,1;SRF=6;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.7105;esp6500siv2_ea=0.6578;esp6500siv2_all=0.7105;esp6500siv2_ea=0.6578;1000g2015aug_all=0.699481;avsnp147=rs2618702;Kaviar_AF=0.653497;Kaviar_AC=101032;Kaviar_AN=154602;ExAC_ALL=0.6804;ExAC_AFR=0.8394;ExAC_AMR=0.6534;ExAC_EAS=0.7145;ExAC_FIN=0.7363;ExAC_NFE=0.6691;ExAC_OTH=0.6991;ExAC_SAS=0.6048;CLNALLELEID=249819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0068;dpsi_zscore=0.046;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6670;gnomAD_exome_AFR=0.8409;gnomAD_exome_AMR=0.6317;gnomAD_exome_ASJ=0.5533;gnomAD_exome_EAS=0.7078;gnomAD_exome_FIN=0.7270;gnomAD_exome_NFE=0.6648;gnomAD_exome_OTH=0.6461;gnomAD_exome_SAS=0.6004;gnomAD_genome_ALL=0.7228;gnomAD_genome_AFR=0.8341;gnomAD_genome_AMR=0.6005;gnomAD_genome_ASJ=0.5695;gnomAD_genome_EAS=0.7191;gnomAD_genome_FIN=0.7370;gnomAD_genome_NFE=0.6682;gnomAD_genome_OTH=0.6748;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1198.76,-147.267,0:579:8:538:14673:218 1/1:-1426.56,-176.981,0:646:4:620:17010:125 0/1:-486.606,0,-551.758:613:291:304:8110:8793 1/1:-655.641,-87.0026,0:325:3:307:8236:71 1/1:-969.424,-115.999,0:483:8:444:12029:284 1/1:-1251.56,-161.473,0:594:3:556:14926:77 . 1/1:-1096.31,-128.156,0:506:9:476:13227:201 1/1:-889.742,-117.391,0:416:1:393:10515:14 0/1:-465.031,0,-699.592:679:362:295:8143:10629 . 0/1:-428.728,0,-411.396:477:222:243:6857:6513 1/1:-998.898,-130.188,0:482:2:445:11961:50 0/1:-321.266,0,-376.667:422:202:201:5228:6069 . 0/1:-576.143,0,-782.709:759:396:341:9517:11930 1/1:-885.177,-115.843,0:423:2:394:10716:46 0/1:-696.567,0,-921.435:920:477:421:11662:14195 0/1:-401.143,0,-572.146:561:290:255:6892:8678 . 1/1:-919.057,-120.272,0:433:1:408:11057:32 1/1:-1571.6,-193.942,0:731:8:694:18741:244 0/1:-302.477,0,-311.01:371:174:182:4961:5266 1/1:-1262.16,-151.266,0:586:7:558:15294:213 0/1:-472.17,0,-512.119:593:277:299:8067:8242 1/1:-839.683,-100.845,0:418:8:384:10246:229 0/1:-350.732,0,-433.623:454:234:207:5753:6856 0/1:-383.247,0,-572.647:564:298:247:6670:8934 0/1:-296.737,0,-340.689:382:190:178:5039:5633 1/1:-821.105,-96.748,0:398:6:367:10157:176 0/1:-362.987,0,-447.555:479:243:218:6023:6999 . 1/1:-1149.75,-148.282,0:556:4:518:14070:113 1/1:-962.329,-122.762,0:461:5:433:11797:114 0/1:-449.504,0,-527.962:569:281:270:7457:8455 . 1/1:-1136.78,-146.046,0:534:2:504:13666:72 1/1:-1305.96,-158.026,0:616:8:582:16087:227 1/1:-1039.85,-131.286,0:504:4:471:12611:132 1/1:-750.543,-97.1642,0:341:2:329:9150:28 . 1/1:-908.899,-115.974,0:445:5:412:11088:136 1/1:-1015,-125.632,0:483:4:449:12386:122 0/1:-466.645,0,-473.442:548:258:267:7548:7722 0/1:-711.271,0,-695.648:804:379:402:11054:11171 0/1:-470.768,0,-596.917:641:321:296:7958:9636 0/1:-319.899,0,-455.077:466:244:203:5426:7091 1/1:-749.304,-98.7378,0:342:0:328:9057:0 0/1:-315.099,0,-407.811:451:225:205:5435:6640 1/1:-1356.28,-168.105,0:647:5:601:16356:167 0/1:-428.556,0,-526.266:568:281:266:7025:8190 1/1:-1112.02,-142.313,0:536:5:500:13542:110 . 0/1:-438.493,0,-510.268:553:269:264:7177:8150 1/1:-824.915,-112.735,0:408:1:384:10076:36 0/1:-317.07,0,-379.697:398:198:189:5209:6022 1/1:-1172.53,-150.064,0:536:1:508:14026:36 0/1:-235.376,0,-317.084:334:175:147:3985:5102 1/1:-651.821,-78.5782,0:315:4:297:7866:136 0/1:-395.694,0,-424.957:482:240:229:6433:6903 0/1:-243.35,0,-370.154:346:187:148:4196:5625 0/1:-513.615,0,-599.09:640:310:308:8394:9458 1/1:-946.474,-122.045,0:437:2:418:11418:50 1/1:-793.738,-101.38,0:383:4:362:9620:100 1/1:-1318.85,-152.092,0:653:15:602:16037:420 1/1:-1184.63,-162.556,0:573:0:540:14312:0 0/1:-223.249,0,-286.849:319:160:148:3899:4663 1/1:-1123.24,-146.986,0:527:3:504:13625:64 0/1:-376.401,0,-333.107:413:175:224:5948:5431 0/1:-416.958,0,-489.021:541:261:263:6944:7791 0/1:-350.357,0,-451.601:468:233:216:5825:7106 0/1:-537.287,0,-534.839:609:282:311:8441:8531 0/1:-467.755,0,-570.497:603:305:284:7699:8975 0/1:-289.386,0,-237.971:358:156:187:4742:4325 0/1:-378.652,0,-508.633:502:258:234:6314:7745 1/1:-1276.3,-163.011,0:600:3:570:15717:108 0/1:-353.439,0,-586.148:539:294:227:6127:8742 . 1/1:-742.387,-96.8359,0:359:3:339:9045:73 0/1:-308.508,0,-384.902:419:212:200:5187:6093 1/1:-1152.06,-139.021,0:548:7:516:13911:212 0/1:-504.073,0,-543.721:598:285:293:8033:8610 1/1:-1265.53,-152.714,0:608:10:565:15557:240 1/1:-1068.31,-140.897,0:527:5:497:13029:149 0/1:-291.425,0,-425.78:429:222:183:5113:6612 1/1:-930.946,-108.833,0:443:6:414:11435:199 1/1:-980.861,-116.003,0:477:7:447:12159:235 0/1:-505.024,0,-656.34:689:353:315:8639:10361 0/1:-308.152,0,-278.872:358:162:183:4899:4763 0/1:-387.582,0,-640.295:580:310:252:6771:9590 . 0/1:-294.514,0,-410.674:413:212:183:5053:6430 . 1/1:-1142.18,-143.627,0:536:4:499:13721:100 0/1:-438.105,0,-549.035:573:284:270:7340:8548 . 0/1:-339.657,0,-363.001:358:176:175:5274:5540:176,175 1/1:-1180.56,-115.558,0:493:10:470:14206:329:10,470 1/1:-1297.03,-152.689,0:543:2:522:15338:57:2,522 1/1:-539.865,-65.6245,0:229:0:218:6462:0:0,218 0/1:-422.772,0,-399.246:410:193:209:6331:6076:193,209 0/1:-431.408,0,-596.016:523:285:226:6888:8884:285,226 0/1:-458.678,0,-421.725:454:206:240:7072:6661:206,240 0/1:-396.626,0,-529.11:471:254:209:6358:7820:254,209 1/1:-991.974,-119.79,0:415:1:401:11616:14:1,401 0/1:-350.271,0,-277.889:331:140:184:5426:4454:140,184 0/1:-445.576,0,-511.796:484:248:229:6852:7814:248,229 . 0/1:-292.275,0,-476.179:385:223:156:4811:6967:223,156 1/1:-1171,-141.484,0:485:0:470:13959:0:0,470 1/1:-963.965,-106.495,0:407:5:394:11466:154:5,394 1/1:-1074.28,-119.15,0:454:5:436:12856:154:5,436 0/1:-408.418,0,-617.08:524:290:225:6625:9095:290,225 1/1:-1024.6,-123.723,0:431:0:411:12264:0:0,411 1/1:-1052.22,-115.592,0:435:5:423:12670:162:5,423 0/1:-251.264,0,-391.243:328:181:138:4125:5763:181,138 chr1 237674973 . C G 6338.52 . AB=0.456044;ABP=15.2278;AC=1;AF=0.5;AN=2;AO=332;CIGAR=1X;DP=728;DPB=728;DPRA=0;EPP=5.12945;EPPR=9.6511;GTI=0;LEN=1;MEANALT=3;MQM=37.5873;MQMR=39.172;NS=1;NUMALT=1;ODDS=1459.5;PAIRED=0.960843;PAIREDR=0.955026;PAO=0;PQA=0;PQR=0;PRO=0;QA=10301;QR=11596;RO=378;RPL=151;RPP=8.89682;RPPR=6.89367;RPR=181;RUN=1;SAF=170;SAP=3.4289;SAR=162;SF=1;SRF=180;SRP=4.87156;SRR=198;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0404;dpsi_zscore=-0.220;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-642.941,0,-775.683:728:378:332:10301:11596:378,332 . . . . . . . . . . . . . . . . . chr1 237675119 . C A 57.15 . AB=0.467857;ABP=5.523;AC=2;AF=0.5;AN=4;AO=131;CIGAR=1X;DP=577;DPB=280;DPRA=0;EPP=245.701;EPPR=140.061;GTI=0;LEN=1;MEANALT=2;MQM=21.0916;MQMR=20.9286;NS=1;NUMALT=1;ODDS=14.907;PAIRED=0.832061;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=1915;QR=2784;RO=140;RPL=85;RPP=28.2226;RPPR=3.25847;RPR=46;RUN=1;SAF=90;SAP=42.8096;SAR=41;SF=0;SRF=81;SRP=10.5174;SRR=59;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0071;dpsi_zscore=-0.017;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-49.7156,0,-86.913:280:140:131:1915:2784 . . . 0/1:-48.2934,0,-110.483:297:154:130:1913:2948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237711797 . A G 11917.79 . AB=0;ABP=0;AC=215;AF=1;AN=228;AO=468;CIGAR=1X;DP=60806;DPB=482;DPRA=0;EPP=27.0635;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=37.0833;MQMR=8;NS=1;NUMALT=1;ODDS=647.622;PAIRED=0.948718;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13859;QR=14;RO=1;RPL=210;RPP=13.7006;RPPR=5.18177;RPR=258;RUN=1;SAF=210;SAP=13.7006;SAR=258;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon26:c.A2973G:p.S991S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.8511;esp6500siv2_ea=0.9585;esp6500siv2_all=0.8511;esp6500siv2_ea=0.9585;1000g2015aug_all=0.830272;avsnp147=rs2253273;Kaviar_AF=0.908384;Kaviar_AC=140438;Kaviar_AN=154602;ExAC_ALL=0.9262;ExAC_AFR=0.5994;ExAC_AMR=0.9575;ExAC_EAS=0.8849;ExAC_FIN=0.9710;ExAC_NFE=0.9594;ExAC_OTH=0.9499;ExAC_SAS=0.9663;CLNALLELEID=52932;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0359;dpsi_zscore=0.229;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9329;gnomAD_exome_AFR=0.5968;gnomAD_exome_AMR=0.9564;gnomAD_exome_ASJ=0.9549;gnomAD_exome_EAS=0.8865;gnomAD_exome_FIN=0.9730;gnomAD_exome_NFE=0.9589;gnomAD_exome_OTH=0.9437;gnomAD_exome_SAS=0.9670;gnomAD_genome_ALL=0.8540;gnomAD_genome_AFR=0.6002;gnomAD_genome_AMR=0.9414;gnomAD_genome_ASJ=0.9603;gnomAD_genome_EAS=0.8838;gnomAD_genome_FIN=0.9762;gnomAD_genome_NFE=0.9567;gnomAD_genome_OTH=0.9450;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1149.3,-140.542,0:482:1:468:13859:14 1/1:-1428.72,-171.532,0:594:1:573:16948:14 1/1:-1312.38,-151.385,0:537:3:525:15600:86 1/1:-857.996,-103.238,0:352:1:346:10365:14 1/1:-1356.58,-164.248,0:568:1:555:16348:36 1/1:-1544.67,-181.008,0:633:2:614:18333:50 1/1:-1077.86,-130.883,0:458:2:441:13255:28 1/1:-1430.9,-168.836,0:583:2:567:17093:28 0/1:-432.568,0,-466.171:468:229:229:6869:7158 1/1:-1482.08,-184.377,0:639:1:622:18098:36 1/1:-1312.82,-163.119,0:557:1:543:15858:14 1/1:-1066.69,-121.564,0:437:3:424:12704:86 1/1:-1152.35,-138.173,0:473:0:459:13687:0 1/1:-997.04,-124.871,0:434:1:418:12195:14 1/1:-1112.24,-128.646,0:469:4:448:13449:85 1/1:-1758.96,-212.828,0:726:0:707:21194:0 1/1:-864.519,-103.393,0:366:3:356:10463:64 0/1:-1063.72,0,-1198.91:1199:599:570:16986:18233 0/1:-465.979,0,-646.543:576:311:251:7490:9638 0/1:-326.593,0,-381.189:394:198:182:5362:5980 1/1:-920.263,-109.269,0:395:2:381:11144:68 1/1:-1460.51,-173.628,0:602:2:583:17523:28 1/1:-793.946,-94.8245,0:324:0:315:9491:0 1/1:-1561.03,-184.136,0:649:3:629:18593:73 1/1:-1548.96,-186.884,0:643:1:624:18356:14 1/1:-1030.13,-129.724,0:454:1:434:12631:14 1/1:-1428.28,-163.369,0:582:4:567:17101:96 1/1:-1461.11,-175.087,0:604:2:588:17434:28 0/1:-358.926,0,-375.047:415:202:206:5761:6108 1/1:-869.393,-102.842,0:362:2:348:10349:28 1/1:-1239.57,-146.836,0:526:4:508:15095:113 1/1:-1629.47,-189.339,0:664:2:648:19420:72 0/1:-583.544,0,-566.179:618:293:313:9378:9041 1/1:-1179.7,-136.218,0:472:3:465:13990:64 1/1:-1354.94,-161.051,0:546:0:535:16187:0 1/1:-1537.38,-183.271,0:622:1:612:18282:14 1/1:-1257.83,-144.283,0:513:4:500:15063:92 1/1:-1465.76,-171.589,0:605:2:588:17654:68 1/1:-1274.72,-156.223,0:538:1:522:15490:14 1/1:-903.833,-108.371,0:370:0:360:10662:0 0/1:-665.809,0,-846.923:779:414:348:10538:12814 1/1:-1169.71,-133.977,0:474:2:464:13852:72 1/1:-1379.89,-160.442,0:570:3:554:16743:82 1/1:-1274.57,-147.691,0:510:2:497:14979:28 1/1:-1742.29,-204.564,0:709:3:685:20389:42 1/1:-1447.88,-165.741,0:605:4:577:17319:103 1/1:-1248.98,-145.621,0:524:4:506:15004:96 1/1:-716.435,-84.8355,0:291:1:285:8437:14 0/1:-431.429,0,-430.986:443:212:222:6651:6741 1/1:-1685.39,-201.812,0:697:2:683:20176:50 1/1:-1464.87,-168.117,0:600:3:586:17471:104 1/1:-1287.51,-158.534,0:552:2:533:15596:28 1/1:-1697.22,-199.131,0:694:1:671:20154:36 1/1:-1552.86,-189.389,0:649:2:632:18467:28 1/1:-906.948,-114.293,0:394:2:384:11102:28 1/1:-917.055,-108.07,0:369:0:359:10774:0 1/1:-1442.81,-168.262,0:601:3:580:17254:82 1/1:-660.528,-83.028,0:288:1:279:8245:14 1/1:-968.203,-113.485,0:409:2:395:11546:68 1/1:-1268.06,-147.414,0:514:2:499:15004:50 1/1:-786.335,-98.5719,0:354:2:339:9885:46 1/1:-1874.54,-220.97,0:780:6:755:22566:104 1/1:-1264.35,-145.818,0:505:3:494:14760:49 1/1:-798.987,-92.0095,0:349:5:331:9964:110 1/1:-1874,-218.432,0:755:2:735:22372:68 1/1:-1377.47,-168.329,0:572:3:562:16558:42 1/1:-668.634,-81.6539,0:305:4:292:8317:96 1/1:-1283.29,-155.878,0:539:1:521:15492:14 1/1:-1028.66,-120.961,0:414:1:405:12141:14 1/1:-1406.9,-170.529,0:594:1:576:16943:36 1/1:-1319.3,-158.331,0:541:1:529:15813:14 1/1:-1754.63,-206.149,0:703:1:688:20758:14 1/1:-1504.13,-184.77,0:654:3:623:18180:86 0/1:-312.594,0,-283.44:333:148:170:5061:4662 1/1:-1286.87,-150.099,0:525:2:514:15311:72 1/1:-1408.19,-171.709,0:599:2:582:16994:46 1/1:-1475.1,-175.199,0:596:0:582:17457:0 1/1:-1589.98,-189.439,0:662:2:642:19245:50 1/1:-872.801,-104.589,0:373:2:360:10526:50 1/1:-722.551,-88.4468,0:306:1:297:8737:14 1/1:-1530.44,-178.756,0:607:1:597:18141:14 1/1:-1668.45,-198.625,0:680:1:663:19706:14 1/1:-1481.64,-171.759,0:617:4:602:17743:122 1/1:-1146.49,-142.03,0:490:1:475:13890:14 0/1:-416.321,0,-473.956:456:233:214:6523:7316 0/1:-516.764,0,-367.722:462:195:255:7715:5977 1/1:-1025.66,-122.519,0:419:0:407:12287:0 1/1:-1375.57,-151.735,0:587:8:559:16711:222 1/1:-939.239,-105.799,0:370:1:361:11196:36 1/1:-1348.68,-164.909,0:571:1:551:16310:14 1/1:-1953.67,-234.162,0:797:1:779:22971:14 1/1:-1190.75,-138.632,0:504:3:487:14390:100 1/1:-1295.6,-150.656,0:520:1:510:15479:36 1/1:-1355.43,-168.264,0:578:1:562:16496:14 . . 1/1:-1352.05,-151.61,0:516:1:505:15724:32:1,505 1/1:-1563.52,-169.873,0:590:2:577:18033:50:2,577 1/1:-1665.94,-188.144,0:634:0:625:19153:0:0,625 1/1:-815.116,-93.0183,0:312:0:309:9439:0:0,309 1/1:-1255.45,-148.041,0:506:2:498:14611:28:2,498 0/1:-630.138,0,-723.207:695:356:329:9743:10894:356,329 1/1:-1243.02,-141.183,0:483:0:469:14396:0:0,469 1/1:-1542.89,-173.105,0:612:3:593:18047:71:3,593 1/1:-1281.9,-143.271,0:487:1:479:14912:14:1,479 0/1:-419.203,0,-617.931:545:311:225:6901:9130:311,225 1/1:-1397.87,-158.944,0:541:0:528:16224:0:0,528 1/1:-1114.82,-126.984,0:435:1:425:12970:14:1,425 1/1:-1198.31,-136.367,0:463:0:453:13843:0:0,453 1/1:-1438.11,-161.352,0:545:0:536:16539:0:0,536 1/1:-1428.49,-161.791,0:555:1:547:16531:36:1,547 1/1:-1303.27,-144.738,0:500:2:490:15201:46:2,490 1/1:-1761.13,-198.325,0:674:1:662:20422:14:1,662 1/1:-1300.26,-144.944,0:502:2:493:15051:46:2,493 1/1:-1164.62,-127.665,0:454:2:443:13701:72:2,443 1/1:-1320.04,-152.321,0:519:0:506:15375:0:0,506 chr1 237730032 . A G 10337.70 . AB=0.501184;ABP=3.02572;AC=1;AF=0.5;AN=2;AO=635;CIGAR=1X;DP=1267;DPB=1267;DPRA=0;EPP=23.2854;EPPR=3.14016;GTI=0;LEN=1;MEANALT=3;MQM=34.6756;MQMR=36.7542;NS=1;NUMALT=1;ODDS=2380.34;PAIRED=0.877165;PAIREDR=0.900332;PAO=0;PQA=0;PQR=0;PRO=0;QA=17915;QR=17988;RO=602;RPL=379;RPP=54.7461;RPPR=18.7228;RPR=256;RUN=1;SAF=298;SAP=8.21157;SAR=337;SF=0;SRF=252;SRP=37.6529;SRR=350;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon28:c.A3380G:p.E1127G;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000599042;avsnp147=rs200525962;Kaviar_AF=0.0009961;Kaviar_AC=154;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0002;ExAC_AMR=8.639e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0011;ExAC_SAS=0.0056;CLNALLELEID=52938;CLNDN=Sudden_cardiac_death|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|not_provided;CLNDISDB=EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.014;SIFT_pred=D;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.675;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.06;MutationAssessor_pred=L;FATHMM_score=-0.43;FATHMM_pred=T;PROVEAN_score=-5.34;PROVEAN_pred=D;VEST3_score=0.279;CADD_raw=6.511;CADD_phred=31;DANN_score=0.999;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.504;MetaSVM_pred=T;MetaLR_score=0.279;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.293;SiPhy_29way_logOdds=15.238;GDI_full_10282015=.;dpsi_max_tissue=-0.0802;dpsi_zscore=-0.385;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM168765#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0056;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1049.85,0,-1078.53:1267:602:635:17915:17988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237730059 . C T 8166.21 . AB=0.429926;ABP=43.4857;AC=4;AF=0.5;AN=8;AO=408;CIGAR=1X;DP=4544;DPB=949;DPRA=0;EPP=3.09546;EPPR=4.29364;GTI=0;LEN=1;MEANALT=3;MQM=35.0294;MQMR=36.816;NS=1;NUMALT=1;ODDS=1330.55;PAIRED=0.911765;PAIREDR=0.95092;PAO=0;PQA=0;PQR=0;PRO=0;QA=10967;QR=14342;RO=489;RPL=291;RPP=164.146;RPPR=223.839;RPR=117;RUN=1;SAF=161;SAP=42.3736;SAR=247;SF=0,1;SRF=200;SRP=38.1846;SRR=289;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon28:c.C3407T:p.A1136V;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00239617;avsnp147=rs72549415;Kaviar_AF=0.0074579;Kaviar_AC=1153;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0014;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0051;ExAC_NFE=0.0114;ExAC_OTH=0.01;ExAC_SAS=0.0010;CLNALLELEID=52939;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.771;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_pred=D;MutationAssessor_score=-0.51;MutationAssessor_pred=N;FATHMM_score=-0.54;FATHMM_pred=T;PROVEAN_score=1.28;PROVEAN_pred=N;VEST3_score=0.078;CADD_raw=2.658;CADD_phred=20.6;DANN_score=0.896;fathmm-MKL_coding_score=0.723;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.963;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=6.897;GDI_full_10282015=.;dpsi_max_tissue=-0.0063;dpsi_zscore=-0.012;hgmdCODING=HGMD::Catecholaminergic_polymorphic_ventricular_tachycardia#19597050;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM0910932#"Catecholaminergic_polymorphic_ventricular_tachycardia";gnomAD_exome_ALL=0.0069;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0047;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0064;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0087;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0043;gnomAD_genome_NFE=0.0149;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-607.787,0,-906.237:949:489:408:10967:14342 . . . . . . . . . . . . . . . 0/1:-949.965,0,-1158:1312:652:593:16394:18965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-720.517,0,-965.291:1061:533:474:12835:15489 . . . . . . . . . . . . . . . . . . . . 0/1:-1278.41,0,-1190.45:1222:569:621:19178:18019:569,621 . chr1 237753074 . ATTTTTTTTTTCTTCCCA ATTTTTTTTTCTTCCCA 6013.54 . AB=0.368421;ABP=83.0119;AC=96;AF=0.5;AN=154;AO=196;CIGAR=1M1D10M;DP=44602;DPB=529.833;DPRA=0;EPP=40.2799;EPPR=39.8556;GTI=0;LEN=1;MEANALT=44;MQM=38.7806;MQMR=38.6466;NS=1;NUMALT=1;ODDS=677.105;PAIRED=0.959184;PAIREDR=0.931727;PAO=22;PQA=497.5;PQR=497.5;PRO=22;QA=5469;QR=7995;RO=249;RPL=53;RPP=92.7497;RPPR=152.667;RPR=143;RUN=1;SAF=122;SAP=28.5362;SAR=74;SF=0,1;SRF=164;SRP=57.4366;SRR=85;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.3469;esp6500siv2_ea=0.4430;esp6500siv2_all=0.3469;esp6500siv2_ea=0.4430;1000g2015aug_all=0.285144;avsnp147=rs11331089;Kaviar_AF=0.012005;Kaviar_AC=1856;Kaviar_AN=154602;ExAC_ALL=0.4622;ExAC_AFR=0.1557;ExAC_AMR=0.6425;ExAC_EAS=0.3421;ExAC_FIN=0.5085;ExAC_NFE=0.4969;ExAC_OTH=0.4763;ExAC_SAS=0.3795;CLNALLELEID=45402;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4554;gnomAD_exome_AFR=0.1343;gnomAD_exome_AMR=0.6095;gnomAD_exome_ASJ=0.4804;gnomAD_exome_EAS=0.3095;gnomAD_exome_FIN=0.5078;gnomAD_exome_NFE=0.4791;gnomAD_exome_OTH=0.4699;gnomAD_exome_SAS=0.3630;gnomAD_genome_ALL=0.3537;gnomAD_genome_AFR=0.1250;gnomAD_genome_AMR=0.5570;gnomAD_genome_ASJ=0.4467;gnomAD_genome_EAS=0.2506;gnomAD_genome_FIN=0.4796;gnomAD_genome_NFE=0.4511;gnomAD_genome_OTH=0.4165;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-512.897:532:249:196:5469:7995 1/1:.,.,0:684:14:567:16021:449 . 0/1:.,.,-339.681:400:170:169:4581:5412 1/1:.,.,0:543:11:459:12659:353 0/1:.,.,-472.264:639:243:280:7712:7841 0/1:.,.,-377.168:514:197:233:6362:6294 0/1:.,.,-566.598:663:277:274:7810:8800 . 1/1:.,.,0:702:13:599:16691:414 0/1:.,.,-403.497:568:211:237:6215:6770 0/1:.,.,-399.219:524:205:224:6273:6469 0/1:.,.,-447.101:529:227:220:6013:7190 . 1/1:.,.,0:518:20:437:12029:633 1/1:.,.,0:789:19:660:18736:598 0/1:.,.,-294.315:470:161:231:6297:5162 0/1:.,.,-906.771:1108:455:464:13311:14536 . 0/1:.,.,-304.167:390:153:145:3872:4909 0/1:.,.,-353.54:465:182:209:5956:5779 0/1:.,.,-496.711:668:254:288:8121:8043 . . . 0/1:.,.,-361.835:511:197:211:5560:6106 . . 0/1:.,.,-398.142:515:207:215:5847:6614 . 0/1:.,.,-325.292:519:177:248:6877:5597 0/1:.,.,-533.923:706:271:315:8966:8696 . . 0/1:.,.,-474.911:593:236:265:7418:7574 1/1:.,.,0:682:16:587:16373:503 . 0/1:.,.,-300.41:553:173:287:7768:5548 . 1/1:.,.,0:359:7:306:8430:208 0/1:.,.,-474.817:621:245:265:7468:7770 0/1:.,.,-416.647:536:228:213:5936:7188 . 1/1:.,.,0:522:12:436:12406:370 0/1:.,.,-503.37:697:259:318:8722:8233 0/1:.,.,-474.157:562:239:231:6417:7755 . . 0/1:.,.,-385.701:511:199:212:5528:6289 1/1:.,.,0:729:12:618:17150:366 0/1:.,.,-401.268:619:215:287:8285:6815 0/1:.,.,-397.677:580:212:257:7006:6686 1/1:.,.,0:689:15:573:16030:487 1/1:.,.,0:635:12:541:15418:376 . 0/1:.,.,-339.665:475:182:212:5895:5765 1/1:.,.,0:628:13:532:14760:441 1/1:.,.,0:392:8:321:8637:273 0/1:.,.,-279.02:430:158:197:5607:5002 . 0/1:.,.,-207.481:364:123:171:4372:3864 0/1:.,.,-417.474:615:228:277:7782:7166 0/1:.,.,-335.339:457:174:200:5511:5508 0/1:.,.,-300.849:485:173:200:5291:5303 1/1:.,.,0:654:13:563:15651:396 . 0/1:.,.,-201.481:344:113:154:4056:3550 . 0/1:.,.,-322.632:431:159:172:4477:5111 . 0/1:.,.,-364.027:545:198:251:6944:6211 0/1:.,.,-498.482:670:253:323:9052:8230 . 0/1:.,.,-208.324:375:127:162:3955:3818 0/1:.,.,-466.962:521:227:204:5402:7188 . 0/1:.,.,-465.428:661:244:293:8405:7843 1/1:.,.,0:674:14:569:15722:454 1/1:.,.,0:427:6:357:9778:197 . 0/1:.,.,-418.927:592:217:265:7448:6943 0/1:.,.,-468.545:661:248:290:8024:7856 0/1:.,.,-532.189:740:276:347:9451:8828 . . 0/1:.,.,-220.878:517:135:265:7382:4237 0/1:.,.,-232.808:408:131:194:5165:4074 . . 0/1:.,.,-431.916:567:229:233:6432:7323 0/1:.,.,-567.486:765:294:352:9868:9483 0/1:.,.,-328.431:506:183:227:6040:5777 1/1:.,.,0:622:16:543:14805:513 0/1:.,.,-467.907:621:238:264:7596:7571 . . . 0/1:-586.101,0,-490.069:708:238:304:8702:7642:238,304 0/1:-498.891,0,-529.709:696:249:269:7615:7989:249,269 0/1:-431.68,0,-204.607:429:110:205:6052:3499:110,205 0/1:-451.85,0,-367.461:566:184:235:6739:5813:184,235 0/1:-586.761,0,-519.947:745:259:307:8798:8206:259,307 1/1:-1289.48,-147.883,0:678:13:539:15055:424:13,539 . 0/1:-480.248,0,-399.633:629:207:261:7260:6579:207,261 . 0/1:-617.061,0,-440.271:723:223:320:9049:7118:223,320 . 0/1:-477.173,0,-441.009:604:213:247:7155:6739:213,247 0/1:-348.84,0,-434.425:550:204:197:5512:6531:204,197 . . . 1/1:-1329.3,-149.21,0:673:12:535:15487:385:12,535 0/1:-501.116,0,-460.336:609:220:262:7438:7073:220,262 . chr1 237755076 . A G 3516.43 . AB=0.479058;ABP=4.46553;AC=7;AF=0.5;AN=14;AO=183;CIGAR=1X;DP=3110;DPB=382;DPRA=0;EPP=47.1636;EPPR=115.133;GTI=0;LEN=1;MEANALT=3;MQM=38.8798;MQMR=40.7688;NS=1;NUMALT=1;ODDS=708.646;PAIRED=0.972678;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5121;QR=5495;RO=186;RPL=52;RPP=77.0658;RPPR=56.9936;RPR=131;RUN=1;SAF=107;SAP=14.4135;SAR=76;SF=0,1;SRF=91;SRP=3.19709;SRR=95;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon32:c.A4198G:p.S1400G;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0161;esp6500siv2_ea=0.0218;esp6500siv2_all=0.0161;esp6500siv2_ea=0.0218;1000g2015aug_all=0.0071885;avsnp147=rs56229512;Kaviar_AF=0.0174319;Kaviar_AC=2695;Kaviar_AN=154602;ExAC_ALL=0.0182;ExAC_AFR=0.0041;ExAC_AMR=0.0095;ExAC_EAS=0.0002;ExAC_FIN=0.0237;ExAC_NFE=0.0242;ExAC_OTH=0.0145;ExAC_SAS=0.0155;CLNALLELEID=52951;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.116;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.046;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-4.09;FATHMM_pred=D;PROVEAN_score=-1.63;PROVEAN_pred=N;VEST3_score=0.106;CADD_raw=1.769;CADD_phred=14.81;DANN_score=0.988;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.170;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=0.233;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.863;SiPhy_29way_logOdds=9.989;GDI_full_10282015=.;dpsi_max_tissue=-0.4736;dpsi_zscore=-1.065;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0167;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0081;gnomAD_exome_ASJ=0.0218;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0206;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0174;gnomAD_exome_SAS=0.0133;gnomAD_genome_ALL=0.0176;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0183;gnomAD_genome_NFE=0.0272;gnomAD_genome_OTH=0.0235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-328.063,0,-367.423:382:186:183:5121:5495 . . . . . . . . . 0/1:-329.716,0,-518.351:457:253:194:5470:7516 . . . . . . . . . 0/1:-335.896,0,-293.142:361:166:179:5149:4779 . . . . . . . . . . . 0/1:-513.943,0,-600.577:588:304:258:7970:8838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-232.399,0,-314.445:329:170:145:3832:4807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-463.427,0,-451.351:449:211:225:6969:6740:211,225 . . . . . . 0/1:-535.447,0,-568.048:544:270:263:8056:8391:270,263 . . . chr1 237765297 . A T 2413.28 . AB=0.502075;ABP=3.01931;AC=1;AF=0.5;AN=2;AO=121;CIGAR=1X;DP=241;DPB=241;DPRA=0;EPP=30.3062;EPPR=12.6633;GTI=0;LEN=1;MEANALT=2;MQM=40.0496;MQMR=41.2773;NS=1;NUMALT=1;ODDS=555.679;PAIRED=0.975207;PAIREDR=0.966387;PAO=0;PQA=0;PQR=0;PRO=0;QA=3799;QR=3758;RO=119;RPL=61;RPP=3.02825;RPPR=25.3637;RPR=60;RUN=1;SAF=86;SAP=49.688;SAR=35;SF=1;SRF=82;SRP=39.9618;SRR=37;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2144;dpsi_zscore=0.750;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-254.096,0,-255.578:241:119:121:3799:3758:119,121 . . . . chr1 237765333 . G A 1975.06 . AB=0.464789;ABP=5.30411;AC=1;AF=0.5;AN=2;AO=99;CIGAR=1X;DP=213;DPB=213;DPRA=0;EPP=51.4626;EPPR=57.9622;GTI=0;LEN=1;MEANALT=3;MQM=40.5758;MQMR=40.5946;NS=1;NUMALT=1;ODDS=454.775;PAIRED=0.989899;PAIREDR=0.972973;PAO=0;PQA=0;PQR=0;PRO=0;QA=3146;QR=3193;RO=111;RPL=39;RPP=12.6832;RPPR=26.9747;RPR=60;RUN=1;SAF=43;SAP=6.71716;SAR=56;SF=1;SRF=51;SRP=4.59489;SRR=60;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon35:c.G4605A:p.P1535P;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;1000g2015aug_all=0.00119808;avsnp147=rs201916326;Kaviar_AF=0.0028913;Kaviar_AC=447;Kaviar_AN=154602;ExAC_ALL=0.0035;ExAC_AFR=0;ExAC_AMR=0.0008;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0021;ExAC_OTH=0.0036;ExAC_SAS=0.0165;CLNALLELEID=52956;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.6933;dpsi_zscore=-2.087;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0152;gnomAD_exome_EAS=5.828e-05;gnomAD_exome_FIN=8.983e-05;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0145;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-210.529,0,-213.903:213:111:99:3146:3193:111,99 . . . . . . . . . . . . . . . . . . . chr1 237774051 . C T 1663.65 . AB=0.546392;ABP=6.63688;AC=3;AF=0.5;AN=6;AO=106;CIGAR=1X;DP=579;DPB=194;DPRA=0;EPP=7.02548;EPPR=7.95924;GTI=0;LEN=1;MEANALT=2;MQM=35.0566;MQMR=35.907;NS=1;NUMALT=1;ODDS=302.309;PAIRED=1;PAIREDR=0.988372;PAO=0;PQA=0;PQR=0;PRO=0;QA=3217;QR=2678;RO=86;RPL=38;RPP=21.4473;RPPR=11.1912;RPR=68;RUN=1;SAF=98;SAP=168.944;SAR=8;SF=0;SRF=82;SRP=156.629;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0557;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0557;esp6500siv2_ea=0.0012;1000g2015aug_all=0.0638978;avsnp147=rs7546045;Kaviar_AF=0.0177876;Kaviar_AC=2750;Kaviar_AN=154602;ExAC_ALL=0.0465;ExAC_AFR=0.2932;ExAC_AMR=0.0348;ExAC_EAS=0.0217;ExAC_FIN=0;ExAC_NFE=0.0016;ExAC_OTH=0.0205;ExAC_SAS=0.0273;CLNALLELEID=52960;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7173;dpsi_zscore=1.325;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0159;gnomAD_exome_AFR=0.1941;gnomAD_exome_AMR=0.0077;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0.0069;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0111;gnomAD_exome_SAS=0.0178;gnomAD_genome_ALL=0.0514;gnomAD_genome_AFR=0.1779;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0043;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-196.683,0,-157.983:194:86:106:3217:2678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-120.411,0,-114.623:132:63:64:1874:1867 . . . . . 0/1:-258.507,0,-213.554:253:116:132:4079:3479 . . . . . . . . . . . . . . . . . . . . . chr1 237774057 . G C 1296.17 . AB=0.552995;ABP=8.30389;AC=3;AF=0.5;AN=6;AO=120;CIGAR=1X;DP=591;DPB=217;DPRA=0;EPP=4.81986;EPPR=13.0905;GTI=0;LEN=1;MEANALT=3;MQM=35.0667;MQMR=36.1053;NS=1;NUMALT=1;ODDS=311.928;PAIRED=1;PAIREDR=0.989474;PAO=0;PQA=0;PQR=0;PRO=0;QA=3476;QR=2858;RO=95;RPL=44;RPP=21.5402;RPPR=17.2963;RPR=76;RUN=1;SAF=109;SAP=176.8;SAR=11;SF=0;SRF=91;SRP=176.02;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0117;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0117;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0171725;avsnp147=rs7522981;Kaviar_AF=0.0042367;Kaviar_AC=655;Kaviar_AN=154602;ExAC_ALL=0.0094;ExAC_AFR=0.0634;ExAC_AMR=0.0074;ExAC_EAS=0.0135;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0026;ExAC_SAS=0.0002;CLNALLELEID=52961;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.1376;dpsi_zscore=2.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0422;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0.0057;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=7.205e-05;gnomAD_genome_ALL=0.0118;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0037;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-217.713,0,-166.07:217:95:120:3476:2858 . . . . . . . . . . . . 0/1:-124.703,0,-171.77:188:96:84:2316:2847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-132.593,0,-171.448:186:93:84:2322:2801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237777429 . T C 8929.41 . AB=0.479657;ABP=6.36748;AC=1;AF=0.5;AN=2;AO=448;CIGAR=1X;DP=934;DPB=934;DPRA=0;EPP=13.2666;EPPR=39.6539;GTI=0;LEN=1;MEANALT=3;MQM=39.5871;MQMR=40.1042;NS=1;NUMALT=1;ODDS=2056.07;PAIRED=0.955357;PAIREDR=0.95625;PAO=0;PQA=0;PQR=0;PRO=0;QA=13778;QR=15146;RO=480;RPL=246;RPP=12.3942;RPPR=3.17316;RPR=202;RUN=1;SAF=227;SAP=3.18479;SAR=221;SF=1;SRF=246;SRP=3.66174;SRR=234;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.T5001C:p.L1667L;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397516537;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=9.121e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=52967;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0172;dpsi_zscore=0.117;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.504e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.455e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-903.015,0,-1013.89:934:480:448:13778:15146:480,448 . . . . . . . . . . chr1 237777828 . A G 7345.62 . AB=0.435005;ABP=38.8585;AC=1;AF=0.5;AN=2;AO=425;CIGAR=1X;DP=977;DPB=977;DPRA=0;EPP=4.85477;EPPR=3.07711;GTI=0;LEN=1;MEANALT=3;MQM=36.6424;MQMR=37.9173;NS=1;NUMALT=1;ODDS=1691.39;PAIRED=0.96;PAIREDR=0.946154;PAO=0;PQA=0;PQR=0;PRO=0;QA=12571;QR=15939;RO=520;RPL=212;RPP=3.01541;RPPR=4.36329;RPR=213;RUN=1;SAF=188;SAP=15.2778;SAR=237;SF=0;SRF=245;SRP=6.76862;SRR=275;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.A5400G:p.K1800K;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0326;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0326;esp6500siv2_ea=0.0013;1000g2015aug_all=0.0623003;avsnp147=rs3820216;Kaviar_AF=0.0198057;Kaviar_AC=3062;Kaviar_AN=154602;ExAC_ALL=0.0210;ExAC_AFR=0.1075;ExAC_AMR=0.0067;ExAC_EAS=0.0790;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0122;ExAC_SAS=0.0406;CLNALLELEID=52974;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0254;dpsi_zscore=-0.138;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0191;gnomAD_exome_AFR=0.1113;gnomAD_exome_AMR=0.0068;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0.0812;gnomAD_exome_FIN=4.484e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0111;gnomAD_exome_SAS=0.0398;gnomAD_genome_ALL=0.0360;gnomAD_genome_AFR=0.1098;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0842;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-745.872,0,-1035.73:977:520:425:12571:15939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237778082 . G A 3916.83 . AB=0.444162;ABP=13.6803;AC=5;AF=0.5;AN=10;AO=175;CIGAR=1X;DP=2417;DPB=394;DPRA=0;EPP=4.51172;EPPR=16.8055;GTI=0;LEN=1;MEANALT=3;MQM=36.28;MQMR=37.299;NS=1;NUMALT=1;ODDS=666.346;PAIRED=0.982857;PAIREDR=0.955882;PAO=0;PQA=0;PQR=0;PRO=0;QA=5104;QR=6181;RO=204;RPL=58;RPP=46.204;RPPR=38.8183;RPR=117;RUN=1;SAF=58;SAP=46.204;SAR=117;SF=0;SRF=75;SRP=34.0496;SRR=129;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.G5654A:p.G1885E;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0234;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0234;1000g2015aug_all=0.00978435;avsnp147=rs41315858;Kaviar_AF=0.0164163;Kaviar_AC=2538;Kaviar_AN=154602;ExAC_ALL=0.0154;ExAC_AFR=0.0049;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0.0127;ExAC_NFE=0.0237;ExAC_OTH=0.0175;ExAC_SAS=0.0019;CLNALLELEID=45407;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.886;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.755;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=N;MutationAssessor_score=-0.35;MutationAssessor_pred=N;FATHMM_score=-0.54;FATHMM_pred=T;PROVEAN_score=0.55;PROVEAN_pred=N;VEST3_score=0.093;CADD_raw=-1.771;CADD_phred=0.002;DANN_score=0.496;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.943;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=-2.35;phyloP7way_vertebrate=-0.020;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.285;phastCons20way_mammalian=0.565;SiPhy_29way_logOdds=2.768;GDI_full_10282015=.;dpsi_max_tissue=0.1062;dpsi_zscore=0.502;hgmdCODING=HGMD::Catecholaminergic_polymorphic_ventricular_tachycardia#21315846;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1110948#"Catecholaminergic_polymorphic_ventricular_tachycardia";gnomAD_exome_ALL=0.0156;gnomAD_exome_AFR=0.0042;gnomAD_exome_AMR=0.0089;gnomAD_exome_ASJ=0.0082;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0149;gnomAD_exome_NFE=0.0264;gnomAD_exome_OTH=0.0156;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0175;gnomAD_genome_AFR=0.0042;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0172;gnomAD_genome_NFE=0.0280;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-305.827,0,-387.891:394:204:175:5104:6181 . . . . . . . . . 0/1:-414.803,0,-438.707:465:222:229:6479:6843 . . . . 0/1:-528.146,0,-605.621:619:307:297:8360:9438 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-360.539,0,-310.73:376:166:201:5705:5039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-425.146,0,-541.717:563:297:257:7233:8728 . . . . . . . . . . . . . . . . . . . . . . chr1 237778084 . G A 4271.40 . AB=0.456476;ABP=18.5103;AC=8;AF=0.5;AN=16;AO=430;CIGAR=1X;DP=4379;DPB=942;DPRA=0;EPP=3.1921;EPPR=3.65904;GTI=0;LEN=1;MEANALT=3;MQM=38.6163;MQMR=38.5747;NS=1;NUMALT=1;ODDS=1785.17;PAIRED=0.969767;PAIREDR=0.973029;PAO=0;PQA=0;PQR=0;PRO=0;QA=12680;QR=14254;RO=482;RPL=152;RPP=83.1831;RPPR=48.0616;RPR=278;RUN=1;SAF=156;SAP=73.3256;SAR=274;SF=0;SRF=158;SRP=127.154;SRR=324;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.G5656A:p.G1886S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0311;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0311;1000g2015aug_all=0.076278;avsnp147=rs3766871;Kaviar_AF=0.0419917;Kaviar_AC=6492;Kaviar_AN=154602;ExAC_ALL=0.0438;ExAC_AFR=0.1417;ExAC_AMR=0.0175;ExAC_EAS=0.0791;ExAC_FIN=0.0226;ExAC_NFE=0.0307;ExAC_OTH=0.0353;ExAC_SAS=0.0491;CLNALLELEID=45408;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.202;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.09;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_pred=N;VEST3_score=0.133;CADD_raw=0.814;CADD_phred=9.551;DANN_score=0.953;fathmm-MKL_coding_score=0.758;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.096;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=4.8;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.247;phastCons20way_mammalian=0.422;SiPhy_29way_logOdds=18.064;GDI_full_10282015=.;dpsi_max_tissue=0.0213;dpsi_zscore=0.144;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM088425#"Altered_channel_function";gnomAD_exome_ALL=0.0405;gnomAD_exome_AFR=0.1429;gnomAD_exome_AMR=0.0195;gnomAD_exome_ASJ=0.0200;gnomAD_exome_EAS=0.0806;gnomAD_exome_FIN=0.0248;gnomAD_exome_NFE=0.0308;gnomAD_exome_OTH=0.0344;gnomAD_exome_SAS=0.0433;gnomAD_genome_ALL=0.0618;gnomAD_genome_AFR=0.1408;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0846;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0263;gnomAD_genome_OTH=0.0377;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-798.996,0,-921.215:942:482:430:12680:14254 . . . . . . . . . . . . . . . . 0/1:-347.067,0,-496.331:487:261:209:5799:7747 . . 0/1:-437.54,0,-468.033:509:249:240:6966:7316 0/1:-424.67,0,-431.177:500:235:251:6951:6941 . . . . 0/1:-422.599,0,-403.668:476:226:236:6685:6708 . . . . . . . . . . . . . . 0/1:-347.79,0,-371.385:415:205:198:5524:5875 . . . . . . . . . . 0/1:-378.106,0,-482.487:505:262:223:6261:7704 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-420.443,0,-564.332:545:296:237:6944:8683 . . . . . . . . . . . . . . . . . . . . . chr1 237780626 . G A 8286.12 . AB=0.464039;ABP=14.4111;AC=1;AF=0.5;AN=2;AO=471;CIGAR=1X;DP=1015;DPB=1015;DPRA=0;EPP=4.67463;EPPR=3.82564;GTI=0;LEN=1;MEANALT=3;MQM=37.8917;MQMR=39.1341;NS=1;NUMALT=1;ODDS=1907.95;PAIRED=0.929936;PAIREDR=0.957854;PAO=0;PQA=0;PQR=0;PRO=0;QA=13557;QR=15742;RO=522;RPL=180;RPP=59.8144;RPPR=71.1662;RPR=291;RUN=1;SAF=258;SAP=12.3462;SAR=213;SF=0;SRF=289;SRP=16.0558;SRR=233;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon38:c.G5756A:p.R1919Q;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199893812;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=9.761e-05;ExAC_OTH=0.0012;ExAC_SAS=0;CLNALLELEID=447825;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.362;SIFT_pred=T;Polyphen2_HDIV_score=0.409;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.061;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.985;MutationTaster_pred=D;MutationAssessor_score=0.875;MutationAssessor_pred=L;FATHMM_score=-0.7;FATHMM_pred=T;PROVEAN_score=-0.34;PROVEAN_pred=N;VEST3_score=0.661;CADD_raw=4.322;CADD_phred=24.0;DANN_score=0.994;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.853;MetaSVM_pred=T;MetaLR_score=0.183;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.39;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=12.502;GDI_full_10282015=.;dpsi_max_tissue=-2.7453;dpsi_zscore=-2.098;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.565e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=3.601e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-843.902,0,-1036.28:1015:522:471:13557:15742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237780671 . C T 5525.83 . AB=0.512821;ABP=3.90116;AC=1;AF=0.5;AN=2;AO=320;CIGAR=1X;DP=624;DPB=624;DPRA=0;EPP=5.72464;EPPR=7.70639;GTI=0;LEN=1;MEANALT=3;MQM=39.0531;MQMR=37.782;NS=1;NUMALT=1;ODDS=1238.57;PAIRED=0.959375;PAIREDR=0.948097;PAO=0;PQA=0;PQR=0;PRO=0;QA=8789;QR=8874;RO=289;RPL=143;RPP=10.8547;RPPR=15.6409;RPR=177;RUN=1;SAF=187;SAP=22.7978;SAR=133;SF=0;SRF=148;SRP=3.37847;SRR=141;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon38:c.C5801T:p.A1934V;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs368009389;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.668e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.012e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.938;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.316;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.979;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.76;FATHMM_pred=T;PROVEAN_score=-2.42;PROVEAN_pred=N;VEST3_score=0.431;CADD_raw=3.786;CADD_phred=23.4;DANN_score=0.998;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.492;MetaSVM_pred=T;MetaLR_score=0.253;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.39;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=14.055;GDI_full_10282015=.;dpsi_max_tissue=-2.3427;dpsi_zscore=-1.998;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.22e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.961e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.975e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-563.505,0,-547.491:624:289:320:8789:8874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237780695 . T G 9219.12 . AB=0.473849;ABP=8.68884;AC=1;AF=0.5;AN=2;AO=453;CIGAR=1X;DP=956;DPB=956;DPRA=0;EPP=4.08885;EPPR=15.2341;GTI=0;LEN=1;MEANALT=3;MQM=40.2715;MQMR=40.8236;NS=1;NUMALT=1;ODDS=2122.78;PAIRED=0.969095;PAIREDR=0.95992;PAO=0;PQA=0;PQR=0;PRO=0;QA=14095;QR=16189;RO=499;RPL=277;RPP=51.9092;RPPR=28.8112;RPR=176;RUN=1;SAF=238;SAP=5.54608;SAR=215;SF=1;SRF=245;SRP=3.36278;SRR=254;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon38:c.T5825G:p.F1942C;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397516546;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.32e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.004e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=52980;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.181;SIFT_pred=T;Polyphen2_HDIV_score=0.284;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.066;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.989;MutationTaster_pred=D;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=-0.72;FATHMM_pred=T;PROVEAN_score=-4.92;PROVEAN_pred=D;VEST3_score=0.686;CADD_raw=4.681;CADD_phred=24.6;DANN_score=0.991;fathmm-MKL_coding_score=0.943;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.771;MetaSVM_pred=T;MetaLR_score=0.212;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.39;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.209;SiPhy_29way_logOdds=10.630;GDI_full_10282015=.;dpsi_max_tissue=0.1971;dpsi_zscore=0.717;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.44e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.385e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-935.542,0,-1116.61:956:499:453:14095:16189:499,453 . . . . . . . . . . chr1 237787132 . A T 4232.14 . AB=0.545455;ABP=11.3014;AC=1;AF=0.5;AN=2;AO=252;CIGAR=1X;DP=462;DPB=462;DPRA=0;EPP=45.2334;EPPR=20.3821;GTI=0;LEN=1;MEANALT=3;MQM=38.623;MQMR=39.49;NS=1;NUMALT=1;ODDS=789.22;PAIRED=0.97619;PAIREDR=0.97;PAO=0;PQA=0;PQR=0;PRO=0;QA=6973;QR=5839;RO=200;RPL=131;RPP=3.872;RPPR=17.0814;RPR=121;RUN=1;SAF=68;SAP=118.96;SAR=184;SF=0;SRF=60;SRP=72.4974;SRR=140;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon39:c.A5984T:p.Q1995L;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.336;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.594;MutationTaster_pred=N;MutationAssessor_score=1.175;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_pred=T;PROVEAN_score=-2.83;PROVEAN_pred=D;VEST3_score=0.355;CADD_raw=2.144;CADD_phred=17.14;DANN_score=0.978;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.864;MetaSVM_pred=T;MetaLR_score=0.215;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.2;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.951;SiPhy_29way_logOdds=11.497;GDI_full_10282015=.;dpsi_max_tissue=0.0703;dpsi_zscore=0.382;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-448.175,0,-361.483:462:200:252:6973:5839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237787196 . TTATTAATTGT TT 1210.35 . AB=0.470588;ABP=5.05404;AC=1;AF=0.5;AN=2;AO=128;CIGAR=1M9D1M;DP=272;DPB=176.273;DPRA=0;EPP=45.4219;EPPR=3.83512;GTI=0;LEN=9;MEANALT=15;MQM=33.2344;MQMR=39.4651;NS=1;NUMALT=1;ODDS=278.693;PAIRED=0.992188;PAIREDR=0.984496;PAO=0;PQA=0;PQR=339;PRO=12;QA=3002;QR=3902;RO=129;RPL=98;RPP=81.4547;RPPR=15.2816;RPR=30;RUN=1;SAF=9;SAP=208.282;SAR=119;SF=0;SRF=10;SRP=203.005;SRR=119;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-164.407,0,-283.517:272:129:128:3002:3902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237794696 . C G 6062.52 . AB=0.488473;ABP=3.8113;AC=1;AF=0.5;AN=2;AO=339;CIGAR=1X;DP=694;DPB=694;DPRA=0;EPP=21.0034;EPPR=52.0726;GTI=0;LEN=1;MEANALT=3;MQM=39.6254;MQMR=38.9373;NS=1;NUMALT=1;ODDS=1395.95;PAIRED=0.855457;PAIREDR=0.889552;PAO=0;PQA=0;PQR=0;PRO=0;QA=9716;QR=9756;RO=335;RPL=102;RPP=119.751;RPPR=45.5387;RPR=237;RUN=1;SAF=151;SAP=11.7795;SAR=188;SF=0;SRF=163;SRP=3.53534;SRR=172;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0823;dpsi_zscore=-0.392;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-628.504,0,-624.383:694:335:339:9716:9756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237801770 . T C 5940.57 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=226;CIGAR=1X;DP=29271;DPB=230;DPRA=0;EPP=16.8847;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=40.115;MQMR=0;NS=1;NUMALT=1;ODDS=316.298;PAIRED=0.977876;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6701;QR=0;RO=0;RPL=151;RPP=58.5078;RPPR=0;RPR=75;RUN=1;SAF=59;SAP=115.081;SAR=167;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon45:c.T6906C:p.L2302L;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9592;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9592;esp6500siv2_ea=0.9994;1000g2015aug_all=0.954872;avsnp147=rs707189;Kaviar_AF=0.937362;Kaviar_AC=144918;Kaviar_AN=154602;ExAC_ALL=0.9884;ExAC_AFR=0.8667;ExAC_AMR=0.9948;ExAC_EAS=1;ExAC_FIN=0.9997;ExAC_NFE=0.9997;ExAC_OTH=0.9911;ExAC_SAS=0.9998;CLNALLELEID=52988;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1771;dpsi_zscore=0.677;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9906;gnomAD_exome_AFR=0.8676;gnomAD_exome_AMR=0.9936;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9998;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9949;gnomAD_exome_SAS=0.9997;gnomAD_genome_ALL=0.9641;gnomAD_genome_AFR=0.8753;gnomAD_genome_AMR=0.9881;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9994;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-575.2,-68.0328,0:230:0:226:6701:0 1/1:-750.882,-90.008,0:309:0:299:8839:0 1/1:-624.441,-74.0429,0:255:1:249:7275:14 1/1:-430.395,-54.4864,0:182:0:181:5079:0 1/1:-582.867,-73.1503,0:248:0:243:6881:0 1/1:-788.17,-93.086,0:324:1:314:9313:21 1/1:-670.124,-82.1812,0:283:0:273:7840:0 1/1:-754.206,-92.3856,0:320:2:313:8975:28 1/1:-554.216,-64.7215,0:218:0:215:6459:0 1/1:-712.289,-87.8463,0:305:1:295:8387:14 1/1:-644.593,-79.1709,0:266:0:263:7445:0 1/1:-624.885,-75.5585,0:255:0:251:7374:0 1/1:-644.761,-77.3647,0:262:0:257:7623:0 1/1:-465.953,-57.7978,0:199:0:192:5458:0 1/1:-513.193,-62.7135,0:219:1:214:6140:27 1/1:-898.885,-108.07,0:373:0:359:10652:0 1/1:-569.985,-69.6025,0:238:1:231:6751:14 1/1:-1387.88,-165.246,0:565:1:552:16141:14 1/1:-584.113,-72.5482,0:247:0:241:6905:0 1/1:-432.262,-53.2823,0:178:0:177:5090:0 1/1:-479.861,-60.3928,0:211:1:202:5760:36 1/1:-853.19,-101.377,0:364:3:344:10258:42 1/1:-353.768,-43.3483,0:151:0:144:4128:0 1/1:-761.286,-92.4162,0:319:0:307:8858:0 1/1:-656.171,-82.7833,0:282:0:275:7680:0 1/1:-483.87,-57.0329,0:217:2:205:5770:59 1/1:-541.716,-63.7974,0:225:1:215:6487:14 1/1:-674.221,-79.773,0:273:0:265:7930:0 1/1:-514.762,-64.0044,0:229:2:217:6063:41 1/1:-422.398,-49.971,0:171:0:166:5052:0 1/1:-594.013,-73.4969,0:253:1:244:7071:27 1/1:-684.536,-81.2215,0:283:1:273:8111:14 1/1:-703.353,-86.3956,0:292:0:287:8371:0 1/1:-502.981,-61.7112,0:207:0:205:5883:0 1/1:-616.544,-78.2678,0:275:0:260:7339:0 1/1:-710.943,-87.2987,0:302:0:290:8438:0 1/1:-635.786,-77.6119,0:272:1:261:7515:14 1/1:-700.381,-83.6307,0:291:1:281:8326:14 1/1:-697.859,-85.4925,0:296:0:284:8284:0 1/1:-308.104,-38.2833,0:133:1:127:3677:21 1/1:-800.98,-96.6306,0:326:0:321:9379:0 1/1:-510.313,-64.1045,0:226:1:216:6132:14 1/1:-683.814,-82.4742,0:287:1:280:8193:32 1/1:-629.361,-74.016,0:258:2:251:7577:57 1/1:-796.943,-93.8658,0:324:1:315:9369:14 1/1:-624.35,-76.0502,0:267:2:259:7316:28 1/1:-607.797,-69.521,0:256:3:245:7302:67 1/1:-408.397,-48.4464,0:169:1:164:4832:14 1/1:-512.403,-62.9153,0:215:0:209:6098:0 1/1:-621.629,-77.6657,0:266:0:258:7307:0 1/1:-656.005,-78.5688,0:273:0:261:7745:0 1/1:-582.992,-72.192,0:249:1:243:6786:14 1/1:-762.256,-90.854,0:313:1:305:8969:14 1/1:-706.57,-83.6818,0:290:1:281:8311:14 1/1:-369.467,-47.2617,0:165:0:157:4405:0 1/1:-507.956,-64.4204,0:220:0:214:6199:0 1/1:-635.923,-77.0637,0:263:0:256:7419:0 1/1:-367.733,-46.6597,0:163:0:155:4414:0 1/1:-408.987,-52.9813,0:178:0:176:4849:0 1/1:-591.277,-71.6451,0:246:0:238:7004:0 1/1:-420.219,-48.2283,0:179:2:166:4931:35 1/1:-838.148,-103.253,0:350:0:343:9873:0 1/1:-514.511,-59.2854,0:207:1:200:5983:14 1/1:-540.039,-64.3666,0:225:1:217:6398:14 1/1:-925.974,-110.71,0:383:2:374:10806:28 1/1:-695.071,-82.4822,0:284:0:274:8159:0 1/1:-421.966,-54.7556,0:189:1:183:5113:14 1/1:-683.711,-84.4991,0:292:1:286:8026:21 1/1:-502.753,-59.905,0:201:0:199:5953:0 1/1:-536.028,-66.5276,0:225:0:221:6315:0 1/1:-512.046,-62.6142,0:215:0:208:5942:0 1/1:-809.546,-94.8245,0:322:0:315:9403:0 1/1:-710.409,-84.5322,0:290:1:284:8311:14 1/1:-346.36,-46.0576,0:163:0:153:4210:0 1/1:-637.157,-77.0176,0:265:1:259:7448:14 1/1:-782.368,-90.8566,0:319:1:305:9122:14 1/1:-591.749,-71.6451,0:249:0:238:6963:0 1/1:-720.337,-88.5028,0:307:0:294:8679:0 1/1:-484.147,-58.3998,0:199:0:194:5664:0 1/1:-460.983,-56.5247,0:204:2:194:5552:28 1/1:-655.458,-79.4719,0:269:0:264:7733:0 1/1:-702.466,-81.8299,0:284:1:275:8190:14 1/1:-669.42,-79.718,0:277:1:268:7971:14 1/1:-602.965,-72.0768,0:256:2:251:7192:46 1/1:-641.745,-81.524,0:288:1:274:7639:14 1/1:-472.096,-54.7875,0:184:0:182:5534:0 1/1:-391.977,-48.1648,0:163:0:160:4727:0 1/1:-779.139,-93.1767,0:334:1:318:9233:32 1/1:-389.168,-47.2617,0:164:0:157:4577:0 1/1:-561.242,-68.3338,0:235:0:227:6632:0 1/1:-871.595,-102.651,0:355:0:341:10225:0 1/1:-531.124,-67.187,0:233:1:223:6333:14 1/1:-774.39,-94.5234,0:319:0:314:9118:0 1/1:-654.184,-78.8699,0:271:0:262:7602:0 1/1:-848.727,-99.5939,0:342:1:334:9948:14 . 1/1:-607.577,-67.4307,0:226:0:224:7017:0:0,224 1/1:-635.558,-69.5379,0:234:0:231:7363:0:0,231 1/1:-660.129,-70.752,0:241:1:238:7640:14:1,238 1/1:-370.858,-42.1442,0:142:0:140:4304:0:0,140 1/1:-743.945,-82.4822,0:279:0:274:8534:0:0,274 1/1:-758.351,-84.5321,0:286:1:284:8746:14:1,284 1/1:-607.411,-71.0431,0:239:0:236:7033:0:0,236 1/1:-692.394,-76.7627,0:263:0:255:7947:0:0,255 1/1:-694.408,-79.773,0:272:0:265:8012:0:0,265 1/1:-464.121,-51.4761,0:172:0:171:5317:0:0,171 1/1:-777.501,-88.5028,0:298:0:294:9029:0:0,294 1/1:-540.805,-61.7112,0:207:0:205:6268:0:0,205 1/1:-628.831,-71.3441,0:240:0:237:7233:0:0,237 1/1:-675.154,-73.7524,0:250:0:245:7761:0:0,245 1/1:-583.729,-64.7215,0:217:0:215:6757:0:0,215 1/1:-601.33,-68.2897,0:234:1:230:7096:14:1,230 1/1:-772.86,-84.5894,0:282:0:281:8900:0:0,281 1/1:-572.26,-65.0225,0:222:0:216:6570:0:0,216 1/1:-604.508,-68.0328,0:228:0:226:6970:0:0,226 1/1:-592.915,-65.6245,0:221:0:218:6886:0:0,218 chr1 237801796 . G A 2426.04 . AB=0.427778;ABP=19.3205;AC=1;AF=0.5;AN=2;AO=154;CIGAR=1X;DP=360;DPB=360;DPRA=0;EPP=112.204;EPPR=118.276;GTI=0;LEN=1;MEANALT=3;MQM=39.2078;MQMR=39.5204;NS=1;NUMALT=1;ODDS=558.616;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4835;QR=6065;RO=196;RPL=133;RPP=179.887;RPPR=167.909;RPR=21;RUN=1;SAF=16;SAP=212.882;SAR=138;SF=0;SRF=24;SRP=245.683;SRR=172;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0129;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0129;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0145767;avsnp147=rs79862521;Kaviar_AF=0.0042302;Kaviar_AC=654;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0447;ExAC_AMR=0.0031;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0067;ExAC_SAS=6.058e-05;CLNALLELEID=52989;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3557;dpsi_zscore=0.966;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0440;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0420;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-305.562,0,-410.386:360:196:154:4835:6065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237804317 . G T 8784.67 . AB=0.501691;ABP=3.03233;AC=1;AF=0.5;AN=2;AO=445;CIGAR=1X;DP=887;DPB=887;DPRA=0;EPP=35.0261;EPPR=62.319;GTI=0;LEN=1;MEANALT=3;MQM=39.5169;MQMR=39.1678;NS=1;NUMALT=1;ODDS=2022.75;PAIRED=0.957303;PAIREDR=0.970115;PAO=0;PQA=0;PQR=0;PRO=0;QA=13733;QR=13995;RO=435;RPL=319;RPP=184.775;RPPR=105.089;RPR=126;RUN=1;SAF=176;SAP=45.2149;SAR=269;SF=0;SRF=179;SRP=32.6072;SRR=256;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769997666;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.123e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.999e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0670;dpsi_zscore=-0.336;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-912.533,0,-920.318:887:435:445:13733:13995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237811766 . C T 9661.93 . AB=0.457061;ABP=19.7936;AC=3;AF=0.5;AN=6;AO=479;CIGAR=1X;DP=3275;DPB=1048;DPRA=0;EPP=109.131;EPPR=105.536;GTI=0;LEN=1;MEANALT=3;MQM=38.4071;MQMR=38.0383;NS=1;NUMALT=1;ODDS=2144.05;PAIRED=0.947808;PAIREDR=0.91439;PAO=0;PQA=0;PQR=0;PRO=0;QA=15032;QR=17232;RO=549;RPL=240;RPP=3.01483;RPPR=16.7788;RPR=239;RUN=1;SAF=262;SAP=12.1903;SAR=217;SF=0,1;SRF=314;SRP=27.6955;SRR=235;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon49:c.C7365T:p.D2455D;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0052;esp6500siv2_ea=0.0067;esp6500siv2_all=0.0052;esp6500siv2_ea=0.0067;1000g2015aug_all=0.00159744;avsnp147=rs72549416;Kaviar_AF=0.003965;Kaviar_AC=613;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0016;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0081;ExAC_OTH=0.0046;ExAC_SAS=0.0008;CLNALLELEID=45409;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0402;dpsi_zscore=-0.219;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0109;gnomAD_exome_EAS=5.854e-05;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0060;gnomAD_exome_OTH=0.0045;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0041;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0065;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-951.798,0,-1104.82:1048:549:479:15032:17232 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1237.13,0,-1260.75:1133:570:548:18146:18499:570,548 . 0/1:-1080.21,0,-1267.27:1094:588:493:16207:18546:588,493 . . . . . . . chr1 237811889 . C T 10413.90 . AB=0.466125;ABP=14.0442;AC=1;AF=0.5;AN=2;AO=516;CIGAR=1X;DP=1107;DPB=1107;DPRA=0;EPP=5.43427;EPPR=5.95569;GTI=0;LEN=1;MEANALT=3;MQM=39.9884;MQMR=40.0052;NS=1;NUMALT=1;ODDS=2397.88;PAIRED=0.965116;PAIREDR=0.958478;PAO=0;PQA=0;PQR=0;PRO=0;QA=16112;QR=18141;RO=578;RPL=302;RPP=35.5992;RPPR=48.4685;RPR=214;RUN=1;SAF=214;SAP=35.5992;SAR=302;SF=1;SRF=241;SRP=37.6336;SRR=337;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon49:c.C7488T:p.L2496L;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0052;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0052;1000g2015aug_all=0.00139776;avsnp147=rs143906555;Kaviar_AF=0.0035963;Kaviar_AC=556;Kaviar_AN=154602;ExAC_ALL=0.0049;ExAC_AFR=0.0013;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0191;ExAC_NFE=0.0061;ExAC_OTH=0.0058;ExAC_SAS=0.0017;CLNALLELEID=45410;CLNDN=Cardiac_arrhythmia|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0355;dpsi_zscore=0.227;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0039;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0145;gnomAD_exome_NFE=0.0045;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0048;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1056.91,0,-1219.94:1107:578:516:16112:18141:578,516 . . . . . . . . . . . . . . . . . . chr1 237814783 . C T 8990.65 . AB=0;ABP=0;AC=98;AF=1;AN=154;AO=751;CIGAR=1X;DP=52979;DPB=763;DPRA=0;EPP=4.81745;EPPR=6.91895;GTI=0;LEN=1;MEANALT=2;MQM=39.8895;MQMR=34;NS=1;NUMALT=1;ODDS=1001.17;PAIRED=0.988016;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=23150;QR=136;RO=5;RPL=318;RPP=41.2496;RPPR=3.44459;RPR=433;RUN=1;SAF=373;SAP=3.08259;SAR=378;SF=0,1;SRF=3;SRP=3.44459;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon51:c.C7806T:p.H2602H;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.4507;esp6500siv2_ea=0.4361;esp6500siv2_all=0.4507;esp6500siv2_ea=0.4361;1000g2015aug_all=0.554912;avsnp147=rs684923;Kaviar_AF=0.427834;Kaviar_AC=66144;Kaviar_AN=154602;ExAC_ALL=0.5198;ExAC_AFR=0.5164;ExAC_AMR=0.5646;ExAC_EAS=0.7888;ExAC_FIN=0.5098;ExAC_NFE=0.4739;ExAC_OTH=0.4895;ExAC_SAS=0.5243;CLNALLELEID=52996;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2246;dpsi_zscore=-0.733;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4755;gnomAD_exome_AFR=0.4743;gnomAD_exome_AMR=0.5052;gnomAD_exome_ASJ=0.3020;gnomAD_exome_EAS=0.7908;gnomAD_exome_FIN=0.4899;gnomAD_exome_NFE=0.4232;gnomAD_exome_OTH=0.4459;gnomAD_exome_SAS=0.4991;gnomAD_genome_ALL=0.4881;gnomAD_genome_AFR=0.5021;gnomAD_genome_AMR=0.4940;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.8125;gnomAD_genome_FIN=0.4991;gnomAD_genome_NFE=0.4477;gnomAD_genome_OTH=0.4603;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1975.04,-216.414,0:763:5:751:23150:136 0/1:-1008.58,0,-957.782:1006:485:503:15127:14384 0/1:-754.517,0,-865.077:808:426:369:11483:12842 1/1:-1261.01,-136.402,0:485:3:481:14886:104 0/1:-763.413,0,-736.716:772:389:375:11630:11249 0/1:-882.734,0,-907.494:889:437:439:13177:13431 0/1:-753.42,0,-672.863:739:355:375:11289:10435 0/1:-752.867,0,-772.51:763:391:363:11291:11533 1/1:-1560.08,-154.975,0:594:11:580:18256:289 . 0/1:-658.713,0,-778.592:747:392:339:10225:11487 . 1/1:-1761.53,-186.55,0:667:5:658:20399:146 0/1:-641.851,0,-790.209:735:395:330:10108:11597 0/1:-678.208,0,-784.349:721:378:337:10332:11466 1/1:-2496.44,-243.108,0:958:16:936:29343:491 0/1:-664.922,0,-682.959:673:334:332:10059:10254 . . . 0/1:-651.537,0,-678.717:659:330:321:9851:10055 0/1:-908.982,0,-1046.11:979:501:457:13943:15349 . 0/1:-821.667,0,-903.517:870:443:413:12521:13300 . 0/1:-634.098,0,-746.263:680:355:314:9641:10975 0/1:-652.58,0,-787.177:733:387:337:10225:11621 . . 1/1:-1343.78,-153.238,0:531:2:528:15760:72 0/1:-718.915,0,-713.18:743:373:359:10928:11039 . 0/1:-725.165,0,-834.636:763:399:354:11053:12265 . 0/1:-794.171,0,-855.516:818:420:383:11953:12733 0/1:-811.009,0,-970.602:892:482:393:12525:14366 1/1:-1949.06,-208.766,0:771:7:758:22982:244 0/1:-899.039,0,-838.002:873:422:435:13405:12811 0/1:-817.036,0,-771.436:819:396:412:12421:11849 0/1:-560.073,0,-483.949:527:238:281:8452:7412 0/1:-978.6,0,-1017.5:960:482:467:14768:14963 0/1:-568.582,0,-562.874:589:278:299:8685:8458 . 1/1:-1910.05,-199.472,0:725:6:717:22448:204 0/1:-1067.96,0,-1067.29:1043:523:510:15925:15822 0/1:-701.907,0,-1034.13:873:501:362:11248:14991 . 0/1:-403.818,0,-452.398:432:224:202:6130:6709 . 1/1:-2290.06,-252.247,0:889:7:875:26947:148 . 0/1:-715.313,0,-855.762:806:430:361:11038:12664 0/1:-1011.11,0,-962.103:977:475:490:15211:14433 0/1:-743.944,0,-935.895:849:450:383:11516:13591 0/1:-574.28,0,-679.672:651:341:300:8833:10112 1/1:-1562.44,-171.197,0:599:3:594:18219:95 . . 1/1:-1485.38,-157.794,0:578:6:571:17571:179 . 0/1:-569.113,0,-544.984:565:279:279:8648:8338 . 1/1:-1170.58,-114.043,0:467:10:454:13973:289 0/1:-562.48,0,-623.875:628:318:298:8739:9310 0/1:-848.937,0,-1019.67:924:491:423:13054:14876 . 0/1:-515.23,0,-538.771:543:274:259:7906:8119 . 1/1:-1270.4,-128.861,0:490:7:480:15026:200 . . . . 0/1:-673.891,0,-523.175:662:292:360:10139:8419 . . 0/1:-827.353,0,-677.395:752:346:393:12187:10462 1/1:-2347.8,-257.704,0:911:6:900:27400:181 1/1:-1381.24,-135.729,0:541:9:530:16391:300 0/1:-628.847,0,-704.551:643:334:301:9453:10383 0/1:-835.929,0,-686.228:767:348:402:12362:10563 0/1:-823.511,0,-979.69:893:475:410:12590:14338 0/1:-900.433,0,-853.416:874:428:436:13411:12974 0/1:-705.279,0,-818.103:776:404:360:10951:12063 1/1:-1692.48,-181.202,0:661:6:652:20059:190 1/1:-1533.66,-168.813,0:594:3:587:17972:99 0/1:-673.13,0,-736.614:698:356:339:10257:10901 0/1:-802.647,0,-985.478:919:489:417:12587:14635 1/1:-1137.66,-124.748,0:430:1:424:13261:36 0/1:-757.959,0,-859.226:822:429:386:11747:12768 0/1:-934.965,0,-1080.71:1028:539:473:14447:15948 0/1:-641.877,0,-667.885:656:327:321:9714:9876 1/1:-2030.16,-227.535,0:790:4:779:23800:92 . 0/1:-889.852,0,-776.69:822:396:423:13232:11746 . 0/1:-268.305,0,-376.196:303:172:130:4113:5385:172,130 . . . 0/1:-287.974,0,-300.248:279:143:135:4295:4373:143,135 0/1:-438.176,0,-407.883:398:189:201:6356:6030:189,201 0/1:-280.519,0,-391.209:319:179:138:4294:5616:179,138 . 0/1:-303.141,0,-350.908:310:160:147:4613:5059:160,147 . 0/1:-342.593,0,-449.846:377:201:169:5282:6386:201,169 0/1:-240.433,0,-336.474:267:148:119:3684:4737:148,119 . 0/1:-355.083,0,-411.373:362:192:166:5307:5964:192,166 . . . 1/1:-777.753,-70.9424,0:302:10:290:9139:231:10,290 . 1/1:-705.246,-69.7852,0:257:2:251:8156:72:2,251 chr1 237823256 . A C 6118.28 . AB=0.461988;ABP=13.7407;AC=15;AF=0.5;AN=28;AO=395;CIGAR=1X;DP=9046;DPB=855;DPRA=0;EPP=187.113;EPPR=145.136;GTI=0;LEN=1;MEANALT=3;MQM=40.6228;MQMR=40.9558;NS=1;NUMALT=1;ODDS=1639.85;PAIRED=0.98481;PAIREDR=0.951327;PAO=0;PQA=0;PQR=0;PRO=0;QA=11587;QR=14603;RO=452;RPL=125;RPP=118.593;RPPR=86.7177;RPR=270;RUN=1;SAF=169;SAP=20.8713;SAR=226;SF=0,1;SRF=192;SRP=25.2247;SRR=260;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0635;esp6500siv2_ea=0.0530;esp6500siv2_all=0.0635;esp6500siv2_ea=0.0530;1000g2015aug_all=0.0407348;avsnp147=rs10925485;Kaviar_AF=0.0431366;Kaviar_AC=6669;Kaviar_AN=154602;ExAC_ALL=0.0605;ExAC_AFR=0.1077;ExAC_AMR=0.0431;ExAC_EAS=0;ExAC_FIN=0.0693;ExAC_NFE=0.0776;ExAC_OTH=0.0546;ExAC_SAS=0.0081;CLNALLELEID=249831;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0181;dpsi_zscore=-0.092;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0451;gnomAD_exome_AFR=0.0880;gnomAD_exome_AMR=0.0308;gnomAD_exome_ASJ=0.0744;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0575;gnomAD_exome_NFE=0.0532;gnomAD_exome_OTH=0.0498;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0622;gnomAD_genome_AFR=0.0943;gnomAD_genome_AMR=0.0419;gnomAD_genome_ASJ=0.0728;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0587;gnomAD_genome_NFE=0.0522;gnomAD_genome_OTH=0.0560;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-753.43,0,-1009.19:855:452:395:11587:14603 0/1:-735.975,0,-781.098:770:386:377:11072:11750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-767.626,0,-919.199:828:429:392:11664:13422 . 0/1:-535.932,0,-710.625:624:337:281:8289:10309 . . . . . . 0/1:-735.373,0,-727.217:722:349:366:10969:10853 . 0/1:-777.732,0,-622.376:710:309:387:11404:9623 0/1:-581.433,0,-745.987:667:352:312:8973:10941 . . . . . . 1/1:-1745.66,-168.587,0:746:29:708:20683:600 . . . . 0/1:-472.769,0,-764.675:619:351:263:7677:10950 . . . . . . . . . . . . . . . . . . . . 0/1:-587.409,0,-611.731:615:303:306:8916:9191 . . . . 0/1:-551.098,0,-587.362:587:287:293:8322:8902 . . . 0/1:-322.9,0,-531.65:418:237:179:5167:7566 . . 0/1:-516.635,0,-590.674:554:282:262:7849:8744 . . . . . . . . . . . . 0/1:-335.151,0,-330.383:331:160:166:4989:4911:160,166 . . . . . . . . . . . chr1 237829825 . C T 6139.38 . AB=0.440789;ABP=26.1536;AC=1;AF=0.5;AN=2;AO=335;CIGAR=1X;DP=760;DPB=760;DPRA=0;EPP=66.5405;EPPR=121.743;GTI=0;LEN=1;MEANALT=3;MQM=40.7761;MQMR=41.0048;NS=1;NUMALT=1;ODDS=1413.64;PAIRED=0.964179;PAIREDR=0.94964;PAO=0;PQA=0;PQR=0;PRO=0;QA=10112;QR=13721;RO=417;RPL=240;RPP=139.295;RPPR=285.713;RPR=95;RUN=1;SAF=103;SAP=110.877;SAR=232;SF=1;SRF=125;SRP=148.239;SRR=292;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon57:c.C8450T:p.A2817V;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs765782802;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=5.021e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.657e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.115;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=0.022;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=-4.07;FATHMM_pred=D;PROVEAN_score=-1.42;PROVEAN_pred=N;VEST3_score=0.309;CADD_raw=2.980;CADD_phred=22.2;DANN_score=0.994;fathmm-MKL_coding_score=0.825;fathmm-MKL_coding_pred=D;MetaSVM_score=0.162;MetaSVM_pred=D;MetaLR_score=0.673;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.43;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.594;SiPhy_29way_logOdds=12.923;GDI_full_10282015=.;dpsi_max_tissue=0.5725;dpsi_zscore=1.204;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.694e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.612e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=6.457e-05;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-655.009,0,-964.253:760:417:335:10112:13721:417,335 . . . . . . . . . . . . . . . . . . chr1 237829952 . G A 8419.50 . AB=0.538462;ABP=12.8654;AC=1;AF=0.5;AN=2;AO=413;CIGAR=1X;DP=767;DPB=767;DPRA=0;EPP=122.893;EPPR=136.228;GTI=0;LEN=1;MEANALT=2;MQM=40.3995;MQMR=40.1331;NS=1;NUMALT=1;ODDS=1382.87;PAIRED=0.978208;PAIREDR=0.943787;PAO=0;PQA=0;PQR=0;PRO=0;QA=12938;QR=10174;RO=338;RPL=319;RPP=269.187;RPPR=280.959;RPR=94;RUN=1;SAF=220;SAP=6.84324;SAR=193;SF=0;SRF=192;SRP=16.6045;SRR=146;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0041;1000g2015aug_all=0.00119808;avsnp147=rs138671840;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.3543;dpsi_zscore=-1.653;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-891.999,0,-654.68:767:338:413:12938:10174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237838001 . G A 12842.80 . AB=0.491354;ABP=3.91143;AC=1;AF=0.5;AN=2;AO=682;CIGAR=1X;DP=1388;DPB=1388;DPRA=0;EPP=177.352;EPPR=79.6177;GTI=0;LEN=1;MEANALT=3;MQM=39.7375;MQMR=40.091;NS=1;NUMALT=1;ODDS=2957.16;PAIRED=0.980938;PAIREDR=0.982379;PAO=0;PQA=0;PQR=0;PRO=0;QA=21422;QR=21220;RO=681;RPL=83;RPP=850.763;RPPR=895.326;RPR=599;RUN=1;SAF=459;SAP=180.345;SAR=223;SF=0;SRF=424;SRP=91.9386;SRR=257;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0079;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0079;1000g2015aug_all=0.00179712;avsnp147=rs114806261;Kaviar_AF=0.0064359;Kaviar_AC=995;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0015;ExAC_AMR=0.0028;ExAC_EAS=0;ExAC_FIN=0.0107;ExAC_NFE=0.0142;ExAC_OTH=0.0032;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0809;dpsi_zscore=-0.388;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0065;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0022;gnomAD_exome_ASJ=0.0100;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0099;gnomAD_exome_NFE=0.0103;gnomAD_exome_OTH=0.0064;gnomAD_exome_SAS=3.51e-05;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0121;gnomAD_genome_NFE=0.0134;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1423.77,0,-1415.94:1388:681:682:21422:21220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237841390 . A G 12296.02 . AB=0.50363;ABP=3.18373;AC=70;AF=0.5;AN=118;AO=763;CIGAR=1X;DP=62760;DPB=1515;DPRA=0;EPP=168.307;EPPR=151.236;GTI=0;LEN=1;MEANALT=3;MQM=40.1101;MQMR=40.6898;NS=1;NUMALT=1;ODDS=3284.07;PAIRED=0.989515;PAIREDR=0.966759;PAO=0;PQA=0;PQR=0;PRO=0;QA=22041;QR=22550;RO=722;RPL=418;RPP=18.1765;RPPR=39.402;RPR=345;RUN=1;SAF=295;SAP=88.1872;SAR=468;SF=0,1;SRF=288;SRP=67.1199;SRR=434;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon61:c.A8873G:p.Q2958R;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.2249;esp6500siv2_ea=0.3042;esp6500siv2_all=0.2249;esp6500siv2_ea=0.3042;1000g2015aug_all=0.0992412;avsnp147=rs34967813;Kaviar_AF=0.216757;Kaviar_AC=33511;Kaviar_AN=154602;ExAC_ALL=0.2533;ExAC_AFR=0.0615;ExAC_AMR=0.2369;ExAC_EAS=0.0013;ExAC_FIN=0.2772;ExAC_NFE=0.3459;ExAC_OTH=0.2570;ExAC_SAS=0.0920;CLNALLELEID=45411;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.473;SIFT_pred=T;Polyphen2_HDIV_score=0.287;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=1.16;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-3.33;PROVEAN_pred=D;VEST3_score=0.538;CADD_raw=2.365;CADD_phred=18.59;DANN_score=0.998;fathmm-MKL_coding_score=0.864;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.093;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.534;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=10.287;GDI_full_10282015=.;dpsi_max_tissue=6.9548;dpsi_zscore=2.836;hgmdCODING=HGMD::Catecholaminergic_polymorphic_ventricular_tachycardia#21315846;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1110947#"Catecholaminergic_polymorphic_ventricular_tachycardia";gnomAD_exome_ALL=0.2143;gnomAD_exome_AFR=0.0480;gnomAD_exome_AMR=0.1988;gnomAD_exome_ASJ=0.2211;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.2360;gnomAD_exome_NFE=0.3066;gnomAD_exome_OTH=0.24;gnomAD_exome_SAS=0.0776;gnomAD_genome_ALL=0.2111;gnomAD_genome_AFR=0.0510;gnomAD_genome_AMR=0.1827;gnomAD_genome_ASJ=0.2285;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2433;gnomAD_genome_NFE=0.3170;gnomAD_genome_OTH=0.2715;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1461.69,0,-1512.35:1515:722:763:22041:22550 0/1:-957.524,0,-1341.58:1179:628:534:15155:19534 . . . 0/1:-986.617,0,-1061.69:1078:526:532:15160:15953 0/1:-1118.68,0,-1269.47:1241:615:602:17273:18872 0/1:-853.27,0,-1015.78:977:483:468:13174:14985 0/1:-1180.17,0,-1526.01:1404:735:647:18429:22557 . . 0/1:-1120.31,0,-1112.95:1164:550:591:16973:16941 . . . . . . . . 0/1:-1047.84,0,-1538.49:1331:720:590:16675:22338 . 0/1:-1340.16,0,-1475.27:1430:706:709:20236:22143 . 0/1:-799.688,0,-1060.17:966:504:444:12522:15809 . . 0/1:-718.278,0,-871.193:835:420:408:11327:13032 1/1:-1888.35,-193.518,0:813:18:784:22403:543 0/1:-868.249,0,-1101.63:1017:524:479:13581:16256 0/1:-1240.84,0,-1508.05:1429:722:678:19066:22209 1/1:-3219.07,-373.328,0:1358:11:1311:37233:339 0/1:-716.41,0,-832.71:802:400:389:10914:12397 . . . 0/1:-1256.5,0,-1363.94:1307:640:644:18985:20256 . 0/1:-570.226,0,-642.591:635:322:299:8727:9702 . 0/1:-786.239,0,-1013.84:926:484:415:12231:14885 . 0/1:-1076.4,0,-1138.47:1153:553:584:16327:17279 . . 1/1:-2923.32,-320.999,0:1216:14:1172:34096:408 . 0/1:-960.282,0,-794.88:918:394:507:14184:12336 . 0/1:-1044.24,0,-1369.76:1244:658:572:16338:20192 1/1:-2840.29,-293.842,0:1283:34:1211:33785:945 . . 0/1:-883.126,0,-939.195:980:469:476:13631:14302 0/1:-752.054,0,-867.256:811:405:394:11439:12775 0/1:-1027.37,0,-1183.72:1170:575:573:15845:17739 0/1:-552.855,0,-796.645:721:378:326:8878:11696 . . 0/1:-813.384,0,-935.646:902:444:443:12456:13897 1/1:-3323.22,-339.176,0:1443:34:1369:39241:967 . 0/1:-860.113,0,-966.825:959:464:473:13256:14540 0/1:-1442.03,0,-1358.02:1430:668:737:21429:20545 . 1/1:-1867.54,-211.344,0:810:12:781:22014:349 0/1:-1107.89,0,-1519.82:1348:714:613:17466:22162 0/1:-780.731,0,-997.896:922:470:430:12131:14729 0/1:-1017.63,0,-1229.3:1177:602:549:15693:18301 0/1:-1037.11,0,-1130.53:1135:555:547:15794:16917 0/1:-1350.81,0,-1508.32:1471:721:735:20577:22534 . 0/1:-686.677,0,-919.831:935:481:425:11087:13849 . . . . 1/1:-1801.12,-194.36,0:782:14:755:21185:421 0/1:-801.482,0,-658.218:788:346:419:11873:10438 1/1:-3031.44,-333.205,0:1306:20:1265:35496:624 0/1:-1279.1,0,-1418.19:1405:690:689:19453:21269 . 1/1:-2625.4,-276.423,0:1125:21:1080:30896:633 0/1:-897.728,0,-1056.79:1024:519:485:13790:15845 . 0/1:-825.243,0,-1123.54:976:522:441:12866:16319 1/1:-2985.36,-329.55,0:1306:22:1250:35129:633 . . . 0/1:-880.91,0,-1100.44:1014:526:468:13546:16169 . 0/1:-1189.44,0,-1321.37:1274:630:621:18052:19485 . . . 0/1:-859.726,0,-1076.35:913:488:416:12960:15420:488,416 . . 0/1:-841.964,0,-852.127:806:393:404:12440:12521:393,404 . . . . 0/1:-720.177,0,-791.993:720:362:343:10712:11605:362,343 0/1:-926.967,0,-949.08:890:438:440:13596:14032:438,440 0/1:-653.129,0,-750.345:672:346:317:9882:10840:346,317 0/1:-765.374,0,-1014.06:840:448:385:11614:14527:448,385 . 0/1:-913.52,0,-998.087:905:453:443:13545:14568:453,443 . 0/1:-735.277,0,-1072.79:875:480:382:11561:15318:480,382 1/1:-2229.69,-214.587,0:866:15:837:26030:475:15,837 . 0/1:-737.096,0,-1044.96:838:464:363:11317:14891:464,363 chr1 237843729 . G C 14365.30 . AB=0.474699;ABP=12.2404;AC=1;AF=0.5;AN=2;AO=788;CIGAR=1X;DP=1660;DPB=1660;DPRA=0;EPP=73.5556;EPPR=20.1879;GTI=0;LEN=1;MEANALT=3;MQM=39.4657;MQMR=40.2412;NS=1;NUMALT=1;ODDS=3307.72;PAIRED=0.970812;PAIREDR=0.972941;PAO=0;PQA=0;PQR=0;PRO=0;QA=23155;QR=26292;RO=850;RPL=321;RPP=61.7503;RPPR=85.7817;RPR=467;RUN=1;SAF=547;SAP=261.041;SAR=241;SF=0;SRF=623;SRP=403.624;SRR=227;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs373095690;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9843;dpsi_zscore=1.511;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1484.83,0,-1778.27:1660:850:788:23155:26292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237850716 . C T 1777.68 . AB=0.484429;ABP=3.61891;AC=1;AF=0.5;AN=2;AO=140;CIGAR=1X;DP=289;DPB=289;DPRA=0;EPP=3.07234;EPPR=47.1914;GTI=0;LEN=1;MEANALT=3;MQM=29.8357;MQMR=35.6442;NS=1;NUMALT=1;ODDS=356.958;PAIRED=0.95;PAIREDR=0.903846;PAO=0;PQA=0;PQR=0;PRO=0;QA=3612;QR=3174;RO=104;RPL=21;RPP=151.973;RPPR=123.611;RPR=119;RUN=1;SAF=76;SAP=5.24381;SAR=64;SF=0;SRF=67;SRP=21.8019;SRR=37;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0064;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0064;1000g2015aug_all=0.00139776;avsnp147=rs190942713;Kaviar_AF=0.0031565;Kaviar_AC=488;Kaviar_AN=154602;ExAC_ALL=0.0049;ExAC_AFR=0.0006;ExAC_AMR=0.0054;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0084;ExAC_OTH=0.0072;ExAC_SAS=0.0013;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8081;dpsi_zscore=-1.350;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0039;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0122;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0085;gnomAD_genome_ASJ=0.0137;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0042;gnomAD_genome_OTH=0.0036;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-202.255,0,-182.507:289:104:140:3612:3174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237850816 . C T 8102.43 . AB=0.482085;ABP=5.57787;AC=1;AF=0.5;AN=2;AO=444;CIGAR=1X;DP=921;DPB=921;DPRA=0;EPP=15.2371;EPPR=9.04942;GTI=0;LEN=1;MEANALT=3;MQM=36.0833;MQMR=37.927;NS=1;NUMALT=1;ODDS=1865.65;PAIRED=0.86036;PAIREDR=0.875536;PAO=0;PQA=0;PQR=0;PRO=0;QA=13555;QR=13926;RO=466;RPL=267;RPP=42.625;RPPR=40.7548;RPR=177;RUN=1;SAF=176;SAP=44.4052;SAR=268;SF=1;SRF=211;SRP=12.0317;SRR=255;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0024;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0024;1000g2015aug_all=0.000399361;avsnp147=rs112365440;Kaviar_AF=0.0014812;Kaviar_AC=229;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0004;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0032;ExAC_NFE=0.0025;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=53004;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1186;dpsi_zscore=0.538;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0023;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-827.565,0,-890.04:921:466:444:13555:13926:466,444 . . . . . . . . . . . . . . . . . chr1 237850825 . A T 3914.92 . AB=0.466531;ABP=7.80692;AC=1;AF=0.5;AN=2;AO=230;CIGAR=1X;DP=493;DPB=493;DPRA=0;EPP=8.44842;EPPR=31.7513;GTI=0;LEN=1;MEANALT=1;MQM=35.3783;MQMR=37.1141;NS=1;NUMALT=1;ODDS=901.444;PAIRED=0.882609;PAIREDR=0.874525;PAO=0;PQA=0;PQR=0;PRO=0;QA=6893;QR=8486;RO=263;RPL=145;RPP=36.9986;RPPR=47.0095;RPR=85;RUN=1;SAF=76;SAP=60.4505;SAR=154;SF=0;SRF=77;SRP=101.106;SRR=186;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs577148360;Kaviar_AF=0.0005821;Kaviar_AC=90;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0001;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0489;dpsi_zscore=-0.260;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0067;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-408.354,0,-543.023:493:263:230:6893:8486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237850826 . TAC TAAC 4054.13 . AB=0.408185;ABP=72.7914;AC=2;AF=0.5;AN=4;AO=389;CIGAR=1M1I2M;DP=1640;DPB=1096;DPRA=0;EPP=32.7578;EPPR=28.7484;GTI=0;LEN=1;MEANALT=25;MQM=35.0617;MQMR=35.5606;NS=1;NUMALT=1;ODDS=1186.71;PAIRED=0.912596;PAIREDR=0.835498;PAO=1.5;PQA=34;PQR=34;PRO=1.5;QA=9324;QR=13986;RO=462;RPL=285;RPP=185.888;RPPR=123.334;RPR=104;RUN=1;SAF=154;SAP=39.6351;SAR=235;SF=0;SRF=161;SRP=95.1334;SRR=301;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0032;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0032;1000g2015aug_all=0.00119808;avsnp147=rs144379778;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0024;ExAC_AFR=0.0004;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0018;ExAC_NFE=0.0038;ExAC_OTH=0.0016;ExAC_SAS=0.0008;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0032;gnomAD_exome_OTH=0.0023;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-550.108,0,-860.472:953:462:389:9324:13986 . . . . . . . . . . . . . . . . . . . . . . 0/1:-317.769,0,-671.906:687:354:269:5857:10918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237863717 . CT CG 16988.21 . AB=0;ABP=0;AC=20;AF=1;AN=20;AO=654;CIGAR=1M1X;DP=7852;DPB=743;DPRA=0;EPP=7.8048;EPPR=36.0317;GTI=0;LEN=1;MEANALT=8;MQM=36.8379;MQMR=29.7931;NS=1;NUMALT=1;ODDS=766.111;PAIRED=0.949541;PAIREDR=0.931034;PAO=0;PQA=0;PQR=0;PRO=0;QA=19412;QR=548;RO=29;RPL=478;RPP=305.834;RPPR=19.8579;RPR=176;RUN=1;SAF=246;SAP=90.1481;SAR=408;SF=1;SRF=3;SRP=42.621;SRR=26;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=RYR2:NM_001035:exon65:c.9318delT:p.S3106fs;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1570.66,-164.046,0:743:29:654:19412:548:29,654 1/1:-2028.5,-221.069,0:921:24:831:24443:461:24,831 1/1:-1715.1,-175.685,0:773:34:699:20983:670:34,699 1/1:-2166.16,-239.086,0:974:30:890:26490:586:30,890 1/1:-1618.16,-171.562,0:723:19:657:19726:391:19,657 1/1:-1681.39,-181.312,0:742:21:686:20466:363:21,686 . . 1/1:-1631.63,-182.369,0:720:16:662:19682:265:16,662 1/1:-1725.78,-191.761,0:767:18:703:20979:365:18,703 . 1/1:-1639.85,-174.604,0:763:29:686:20288:546:29,686 . . . 1/1:-1610.31,-176.232,0:726:18:651:19446:316:18,651 chr1 237863718 . T G 16897.89 . AB=0;ABP=0;AC=210;AF=1;AN=210;AO=694;CIGAR=1X;DP=87839;DPB=740;DPRA=0;EPP=8.52972;EPPR=61.5258;GTI=0;LEN=1;MEANALT=3;MQM=33.4092;MQMR=25.0789;NS=1;NUMALT=1;ODDS=804.436;PAIRED=0.930836;PAIREDR=0.973684;PAO=0;PQA=0;PQR=0;PRO=0;QA=18491;QR=626;RO=38;RPL=465;RPP=177.279;RPPR=35.9253;RPR=229;RUN=1;SAF=325;SAP=9.06789;SAR=369;SF=0,1;SRF=6;SRP=41.6397;SRR=32;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon65:c.T9318G:p.S3106S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9718;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9718;esp6500siv2_ea=0.9995;1000g2015aug_all=0.969249;avsnp147=rs2797436;Kaviar_AF=0.971902;Kaviar_AC=150258;Kaviar_AN=154602;ExAC_ALL=0.9917;ExAC_AFR=0.9080;ExAC_AMR=0.9953;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9954;ExAC_SAS=0.9992;CLNALLELEID=53005;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2424;dpsi_zscore=0.800;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9928;gnomAD_exome_AFR=0.9020;gnomAD_exome_AMR=0.9953;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9994;gnomAD_exome_OTH=0.9937;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9715;gnomAD_genome_AFR=0.9005;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9993;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1409.61,-174.567,0:740:38:694:18491:626 1/1:-2079.02,-255.244,0:1023:44:968:26624:752 1/1:-1822.94,-224.963,0:906:42:851:23171:673 1/1:-1195.39,-150.058,0:573:19:550:15147:299 1/1:-1741.39,-202.244,0:883:48:825:22741:817 1/1:-2089.66,-251.175,0:1026:46:967:26543:807 1/1:-1460.64,-177.77,0:753:38:711:19307:670 1/1:-2086.46,-241.785,0:1001:46:950:26327:786 1/1:-1595.64,-195.079,0:781:36:742:20395:554 1/1:-1769.87,-223.768,0:902:40:850:22819:679 1/1:-1381.01,-171.662,0:729:42:684:18256:733 1/1:-1555.15,-190.962,0:784:35:738:19867:578 1/1:-1638.42,-208.891,0:821:30:781:21237:493 1/1:-1288.19,-154.292,0:682:41:635:17048:661 1/1:-1400.5,-171.63,0:663:22:638:17892:370 1/1:-2232.88,-268.823,0:1112:50:1052:28458:776 1/1:-1222.43,-152.472,0:630:27:598:16242:449 1/1:-3739.25,-445.128,0:1778:76:1688:46642:1162 1/1:-1619.35,-199.627,0:781:28:745:20474:476 1/1:-1241.16,-155.79,0:622:26:589:15988:408 1/1:-1457.82,-175.822,0:732:35:689:18282:565 1/1:-2216.8,-257.573,0:1098:60:1028:28346:1012 1/1:-848.861,-115.2,0:452:23:426:11370:377 1/1:-2061.04,-251.504,0:1016:45:963:26133:775 1/1:-2101.54,-265.748,0:1048:43:998:26648:628 1/1:-1277.94,-153.713,0:692:46:639:16973:794 1/1:-1700.59,-202.939,0:835:41:784:21723:653 1/1:-1972.55,-218.007,0:968:56:908:25341:938 1/1:-1201.89,-147.929,0:651:43:602:16220:701 1/1:-1293.42,-151.448,0:622:26:589:16010:457 1/1:-1573.82,-191.577,0:777:35:739:19994:574 1/1:-2369.75,-297.978,0:1139:38:1085:29774:596 1/1:-1957.48,-244.606,0:967:38:918:24812:635 1/1:-971.699,-116.206,0:490:24:461:12370:387 1/1:-2041.31,-240.582,0:996:48:942:25898:806 1/1:-1996.13,-243.386,0:1023:47:964:25755:802 1/1:-1225.49,-147.615,0:616:32:578:15612:524 1/1:-1770.06,-207.998,0:887:46:831:22544:788 1/1:-1649.89,-201.868,0:844:42:797:21640:755 1/1:-1011.94,-122.071,0:508:24:478:12696:459 1/1:-2194.23,-263.705,0:1097:52:1033:28101:824 1/1:-1386.41,-170.102,0:677:30:643:17539:483 1/1:-1663.64,-199.521,0:798:39:755:20861:646 1/1:-1722.68,-209.633,0:865:38:813:21827:616 1/1:-2235.13,-273.101,0:1110:50:1047:28524:826 1/1:-1787.34,-209.068,0:884:42:832:22526:732 1/1:-1482.55,-174.664,0:763:45:710:19182:766 1/1:-1013.35,-121.274,0:513:23:483:12960:444 1/1:-1579.2,-191.041,0:773:33:732:20023:511 1/1:-2251.14,-272.697,0:1060:35:1016:28024:548 1/1:-1678.53,-198.769,0:816:36:768:21462:615 1/1:-1620.5,-188.225,0:884:63:808:21816:1035 1/1:-2467.75,-297.857,0:1201:49:1142:31617:873 1/1:-2008.56,-241.816,0:1029:54:967:25919:886 1/1:-1218.86,-149.309,0:620:36:582:15926:504 1/1:-1515.51,-187.674,0:714:24:689:19166:401 1/1:-1807.21,-216.46,0:932:47:870:23263:781 1/1:-1005.62,-128.4,0:508:22:482:13257:346 1/1:-1369.06,-168.886,0:717:41:672:17425:631 1/1:-1650.36,-200.573,0:819:36:771:21405:649 1/1:-1163.81,-151.719,0:588:22:563:15145:344 1/1:-2106.96,-237.811,0:1034:49:972:27041:881 1/1:-1554.76,-177.54,0:755:42:708:19633:718 1/1:-1212.35,-153.858,0:640:31:602:15964:596 1/1:-2104.55,-250.21,0:1071:56:1006:27253:932 1/1:-1967.73,-232.431,0:971:48:912:24921:768 1/1:-969.107,-123.407,0:510:26:479:12956:434 1/1:-1914.23,-236.545,0:961:44:909:24411:735 1/1:-1407.2,-167.343,0:699:33:659:17901:573 1/1:-1787.45,-214.491,0:911:51:855:23136:833 1/1:-1770.75,-212.416,0:924:56:859:22812:922 1/1:-2307.07,-265.238,0:1136:64:1063:29354:1059 1/1:-1914.95,-245.358,0:951:33:913:24594:515 1/1:-1038.16,-143.163,0:575:28:542:14156:499 1/1:-1473.62,-174.844,0:724:34:685:18880:549 1/1:-2237.06,-264.099,0:1094:54:1029:28169:851 1/1:-1749.71,-206.627,0:869:38:825:22207:724 1/1:-1771.56,-214.619,0:902:48:847:23241:802 1/1:-1255.77,-148.465,0:631:28:593:16283:535 1/1:-1052.5,-116.001,0:517:29:484:13392:520 1/1:-1648.03,-194.332,0:878:54:816:21774:957 1/1:-1961.26,-238.231,0:989:45:934:25264:806 1/1:-2098.28,-244.439,0:1050:52:986:26850:891 1/1:-1619.77,-186.131,0:841:47:780:20992:833 1/1:-1490.19,-182.235,0:734:34:689:18858:497 1/1:-1589.58,-195.627,0:761:29:724:20245:432 1/1:-1378.2,-167.403,0:677:27:645:17450:422 1/1:-1811.23,-213.691,0:909:47:852:23182:781 1/1:-1301.07,-162.571,0:634:23:603:16443:382 1/1:-1762.78,-215.985,0:881:38:835:22719:633 1/1:-2221.86,-271.273,0:1107:54:1047:28417:858 1/1:-1694.51,-209.025,0:841:37:799:21623:602 1/1:-1914.79,-219.131,0:938:45:882:24138:745 1/1:-1643.69,-186.742,0:834:51:777:21311:849 1/1:-1994.8,-240.272,0:1027:60:959:25740:961 . 1/1:-1993.85,-212.51,0:889:42:842:24509:710:42,842 1/1:-2026.97,-229.583,0:869:24:844:24819:376:24,844 1/1:-2262.05,-248.558,0:955:26:926:27357:483:26,926 1/1:-1087.92,-124.067,0:479:14:461:13301:254:14,461 . . . . . . 1/1:-1832.19,-197.386,0:812:32:774:22577:543:32,774 1/1:-1679.23,-189.142,0:701:20:680:20258:311:20,680 . . 1/1:-1868.58,-212.696,0:832:34:794:23245:514:34,794 . 1/1:-1926.64,-208.264,0:834:31:799:23555:518:31,799 1/1:-1870.46,-215.866,0:808:21:780:22805:316:21,780 1/1:-1731.78,-181.503,0:765:39:724:21371:655:39,724 . chr1 237872887 . T C 7760.96 . AB=0.478516;ABP=7.11574;AC=15;AF=0.5;AN=30;AO=490;CIGAR=1X;DP=12610;DPB=1024;DPRA=0;EPP=8.1332;EPPR=7.54914;GTI=0;LEN=1;MEANALT=3;MQM=38.0673;MQMR=38.2726;NS=1;NUMALT=1;ODDS=2141.52;PAIRED=0.944898;PAIREDR=0.957774;PAO=0;PQA=0;PQR=0;PRO=0;QA=15065;QR=16960;RO=521;RPL=313;RPP=84.9767;RPPR=22.8536;RPR=177;RUN=1;SAF=205;SAP=31.3724;SAR=285;SF=0,1;SRF=204;SRP=56.2301;SRR=317;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0166;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0166;1000g2015aug_all=0.00938498;avsnp147=rs74323916;Kaviar_AF=0.0106079;Kaviar_AC=1640;Kaviar_AN=154602;ExAC_ALL=0.0145;ExAC_AFR=0.0051;ExAC_AMR=0.0110;ExAC_EAS=0.0002;ExAC_FIN=0.0047;ExAC_NFE=0.0186;ExAC_OTH=0.0138;ExAC_SAS=0.0175;CLNALLELEID=45389;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1811;dpsi_zscore=0.685;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0112;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0089;gnomAD_exome_ASJ=0.0101;gnomAD_exome_EAS=6.466e-05;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0153;gnomAD_exome_OTH=0.0140;gnomAD_exome_SAS=0.0153;gnomAD_genome_ALL=0.0083;gnomAD_genome_AFR=0.0053;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0114;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-949.829,0,-1095.08:1024:521:490:15065:16960 0/1:-756.62,0,-890.435:848:423:402:12085:13478 0/1:-767.567,0,-1028.45:917:491:418:12419:15667 . . . . 0/1:-684.57,0,-841.812:792:408:367:11096:13047 . . . 0/1:-686.402,0,-729.82:741:360:369:11129:11634 . . . 0/1:-553.629,0,-682.977:650:332:305:9142:10582 . . 0/1:-985.549,0,-1072.16:1047:521:511:15551:16828 . . . . 0/1:-544.124,0,-563.135:604:288:305:9040:9121 0/1:-577.357,0,-596.836:601:297:294:9003:9572 . . . . . . . 0/1:-899.32,0,-1075.44:1003:517:468:14308:16649 . . . . . . . . . . . . 0/1:-865.022,0,-936.085:926:450:465:13862:14664 . . . . . . . . 0/1:-739.887,0,-820.17:784:395:380:11654:12673 . . . 0/1:-552.47,0,-584.293:620:299:310:9111:9475 . . . 0/1:-824.613,0,-1139.22:979:521:447:13365:17218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1056.59,0,-1176.39:1074:542:518:16283:17719:542,518 . . . . . . . . . . . . . . chr1 237875040 . C T 6076.67 . AB=0.447075;ABP=20.4789;AC=1;AF=0.5;AN=2;AO=321;CIGAR=1X;DP=718;DPB=718;DPRA=0;EPP=72.0171;EPPR=77.5494;GTI=0;LEN=1;MEANALT=3;MQM=40.3925;MQMR=40.9898;NS=1;NUMALT=1;ODDS=1399.21;PAIRED=0.937695;PAIREDR=0.951531;PAO=0;PQA=0;PQR=0;PRO=0;QA=9750;QR=12618;RO=392;RPL=138;RPP=16.7088;RPPR=17.989;RPR=183;RUN=1;SAF=146;SAP=8.69942;SAR=175;SF=1;SRF=186;SRP=5.22609;SRR=206;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0004;1000g2015aug_all=0.000599042;avsnp147=rs186326951;Kaviar_AF=0.0004916;Kaviar_AC=76;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0014;ExAC_OTH=0.0022;ExAC_SAS=0.0002;CLNALLELEID=142657;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=7.8786;dpsi_zscore=2.928;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=7.406e-05;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=6.661e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-625.717,0,-882.244:718:392:321:9750:12618:392,321 . . . . . . . . . . . . chr1 237875068 . C T 9513.67 . AB=0.47678;ABP=7.54821;AC=2;AF=0.5;AN=4;AO=462;CIGAR=1X;DP=1898;DPB=969;DPRA=0;EPP=55.8213;EPPR=81.3054;GTI=0;LEN=1;MEANALT=3;MQM=40.368;MQMR=40.5361;NS=1;NUMALT=1;ODDS=2235.75;PAIRED=0.971861;PAIREDR=0.97992;PAO=0;PQA=0;PQR=0;PRO=0;QA=14810;QR=15874;RO=498;RPL=276;RPP=41.0816;RPPR=50.1722;RPR=186;RUN=1;SAF=196;SAP=26.0411;SAR=266;SF=0;SRF=229;SRP=9.98692;SRR=269;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon71:c.C10254T:p.N3418N;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0033;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0033;1000g2015aug_all=0.00339457;avsnp147=rs138073811;Kaviar_AF=0.00315;Kaviar_AC=487;Kaviar_AN=154602;ExAC_ALL=0.0047;ExAC_AFR=0.0004;ExAC_AMR=0.0045;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0054;ExAC_OTH=0.0087;ExAC_SAS=0.0088;CLNALLELEID=45390;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.5868;dpsi_zscore=-2.063;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0030;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0063;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-990.597,0,-1080.64:969:498:462:14810:15874 . . . . . . 0/1:-962.329,0,-1025.7:929:471:452:14251:15073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237881770 . C T 19243.85 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=789;CIGAR=1X;DP=85750;DPB=797;DPRA=0;EPP=43.305;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=40.2471;MQMR=40;NS=1;NUMALT=1;ODDS=1081.19;PAIRED=0.978454;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=23637;QR=41;RO=2;RPL=308;RPP=85.3804;RPPR=3.0103;RPR=481;RUN=1;SAF=402;SAP=3.62954;SAR=387;SF=0,1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon73:c.C10503T:p.T3501T;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9616;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9616;esp6500siv2_ea=0.9995;1000g2015aug_all=0.960463;avsnp147=rs2797441;Kaviar_AF=0.966372;Kaviar_AC=149403;Kaviar_AN=154602;ExAC_ALL=0.9886;ExAC_AFR=0.8706;ExAC_AMR=0.9952;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9933;ExAC_SAS=0.9992;CLNALLELEID=52868;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1498;dpsi_zscore=0.616;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9906;gnomAD_exome_AFR=0.8686;gnomAD_exome_AMR=0.9949;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9995;gnomAD_exome_OTH=0.9917;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9623;gnomAD_genome_AFR=0.8678;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9995;gnomAD_genome_OTH=0.9949;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2041.97,-234.428,0:797:2:789:23637:41 1/1:-2633.8,-301.121,0:1013:1:1006:30465:27 1/1:-2317.26,-266.111,0:892:0:884:26849:0 1/1:-1687.97,-193.863,0:646:0:644:19536:0 1/1:-2166.57,-241.827,0:828:3:819:24912:78 1/1:-2466.05,-286.882,0:958:0:953:28551:0 1/1:-1935.56,-221.257,0:741:0:735:22365:0 1/1:-2319.1,-267.014,0:892:0:887:26887:0 1/1:-1901.64,-218.849,0:732:0:727:21921:0 1/1:-2602.78,-298.622,0:999:0:992:30107:0 1/1:-2158.95,-250.156,0:840:0:831:25091:0 1/1:-1984.45,-226.676,0:754:0:753:22893:0 1/1:-1925.86,-222.16,0:740:0:738:22234:0 1/1:-2062.69,-241.109,0:808:1:804:23755:14 1/1:-2081.35,-237.212,0:796:0:788:24092:0 1/1:-2805.35,-320.296,0:1067:0:1064:32327:0 1/1:-1773.27,-208.614,0:700:0:693:20646:0 1/1:-3593.05,-414.465,0:1389:1:1380:41551:14 1/1:-2339.9,-264.003,0:882:0:877:27057:0 1/1:-1568.16,-183.026,0:612:0:608:18171:0 1/1:-1529.49,-175.5,0:588:0:583:17641:0 1/1:-2559.75,-294.708,0:987:0:979:29582:0 1/1:-1379.02,-161.352,0:538:0:536:15938:0 1/1:-2775.83,-316.383,0:1060:0:1051:32036:0 1/1:-2533.93,-291.999,0:977:0:970:29334:0 1/1:-1795.11,-216.14,0:721:0:718:20956:0 1/1:-2032.57,-233.287,0:785:1:778:23547:14 1/1:-2605.02,-293.504,0:985:0:975:30042:0 1/1:-1631.95,-188.131,0:633:1:628:18800:14 1/1:-1543.43,-175.199,0:590:0:582:17670:0 1/1:-2105.52,-244.737,0:821:0:813:24394:0 1/1:-3209.39,-366.052,0:1222:0:1216:37073:0 1/1:-2101.81,-239.921,0:800:0:797:24158:0 1/1:-1146.9,-130.647,0:440:0:434:13226:0 1/1:-2228.78,-253.166,0:846:0:841:25726:0 1/1:-2386.5,-273.034,0:911:0:907:27568:0 1/1:-1313.88,-149.612,0:501:0:497:15232:0 1/1:-2505.24,-285.376,0:951:0:948:29037:0 1/1:-2087.53,-240.523,0:806:0:799:24026:0 1/1:-1251.85,-140.581,0:470:0:467:14441:0 1/1:-2652.9,-303.739,0:1013:0:1009:30509:0 1/1:-1845.23,-211.022,0:704:0:701:21481:0 1/1:-1939.39,-220.354,0:738:0:732:22378:0 1/1:-2270.75,-254.349,0:872:2:863:26341:68 1/1:-2813.11,-323.27,0:1083:1:1075:32350:14 1/1:-2263.21,-258.585,0:865:0:859:26177:0 1/1:-1948.01,-223.966,0:751:0:744:22507:0 1/1:-1162.56,-131.934,0:441:1:438:13303:14 1/1:-2019.69,-231.191,0:775:0:768:23229:0 1/1:-2488.85,-281.888,0:953:1:946:28763:36 1/1:-2019.85,-236.904,0:798:1:790:23462:14 1/1:-2383.34,-276.346,0:929:0:918:27514:0 1/1:-2584.69,-293.75,0:987:1:979:29746:14 1/1:-2263.21,-259.789,0:868:0:863:25982:0 1/1:-1724.1,-199.282,0:668:0:662:19941:0 1/1:-1669.19,-192.312,0:645:2:642:19403:28 1/1:-2205.72,-250.457,0:835:0:832:25345:0 1/1:-1605.54,-188.746,0:632:0:627:18552:0 1/1:-1919.52,-217.946,0:729:0:724:22078:0 1/1:-1820.37,-210.966,0:709:1:704:21053:14 1/1:-1603.99,-185.979,0:628:1:621:18673:14 1/1:-2638.26,-301.933,0:1008:0:1003:30524:0 1/1:-1773.42,-206.206,0:687:0:685:20561:0 1/1:-1676.24,-200.185,0:670:0:665:19333:0 1/1:-2634.24,-303.716,0:1019:1:1012:30437:14 1/1:-2125.61,-241.426,0:810:0:802:24429:0 1/1:-1732.59,-206.808,0:689:0:687:20115:0 1/1:-2775.73,-317.587,0:1061:0:1055:31924:0 1/1:-1558.75,-184.531,0:615:0:613:18015:0 1/1:-2232.19,-260.391,0:871:0:865:25930:0 1/1:-1929.33,-222.369,0:745:1:742:22387:14 1/1:-2270.43,-260.993,0:872:0:867:26224:0 1/1:-2763.3,-320.898,0:1074:0:1066:31765:0 1/1:-1532.27,-191.756,0:642:0:637:17984:0 1/1:-2238.76,-256.177,0:863:0:851:25789:0 1/1:-2632.34,-298.748,0:1008:1:1002:30381:36 1/1:-2254.81,-260.09,0:867:0:864:26005:0 1/1:-2317.61,-268.421,0:899:1:893:26756:21 1/1:-1652.86,-188.746,0:628:0:627:19162:0 1/1:-1720.74,-200.486,0:674:0:666:19888:0 1/1:-2438.57,-279.958,0:935:0:930:28139:0 1/1:-2416.62,-277.19,0:929:1:924:27773:14 1/1:-2490.33,-287.619,0:971:1:965:29007:36 1/1:-1957.72,-229.631,0:773:1:766:22711:14 1/1:-2050.92,-241.125,0:806:0:801:23962:0 1/1:-1761.4,-200.312,0:679:2:674:20541:35 1/1:-1849.73,-206.114,0:701:2:695:21363:41 1/1:-2354.72,-270.447,0:914:1:908:27435:36 1/1:-1343.74,-154.024,0:526:2:518:15444:28 1/1:-2232.44,-257.682,0:861:0:856:25681:0 1/1:-3008.09,-350.098,0:1168:0:1163:34771:0 1/1:-1861.82,-214.032,0:712:0:711:21524:0 1/1:-2491.58,-283.269,0:945:0:941:28969:0 1/1:-1965.87,-227.542,0:766:1:757:22717:14 1/1:-2339.2,-268.218,0:896:0:891:26976:0 . 1/1:-1201.14,-129.443,0:431:0:430:13770:0:0,430 1/1:-1114.56,-121.616,0:406:0:404:12763:0:0,404 1/1:-1371.94,-152.02,0:508:0:505:15740:0:0,505 1/1:-622.062,-68.6348,0:230:0:228:7151:0:0,228 1/1:-1067.96,-116.499,0:390:0:387:12199:0:0,387 1/1:-1181.73,-130.346,0:439:0:433:13589:0:0,433 1/1:-1149.95,-127.035,0:427:0:422:13375:0:0,422 1/1:-1147.76,-125.53,0:419:0:417:13145:0:0,417 1/1:-1122.06,-119.208,0:399:0:396:12840:0:0,396 1/1:-1067.29,-118.907,0:398:0:395:12226:0:0,395 1/1:-1160.64,-125.831,0:420:0:418:13422:0:0,418 1/1:-916.107,-100.845,0:336:0:335:10465:0:0,335 1/1:-1152.97,-123.994,0:424:1:419:13285:27:1,419 1/1:-1060.76,-115.294,0:387:0:383:12178:0:0,383 1/1:-1017.18,-112.886,0:376:0:375:11704:0:0,375 1/1:-1085.12,-120.412,0:406:0:400:12522:0:0,400 1/1:-1361.55,-146.67,0:492:1:487:15641:14:1,487 1/1:-1134.35,-124.325,0:418:0:413:12992:0:0,413 1/1:-1206.84,-130.346,0:435:0:433:13804:0:0,433 1/1:-1049.24,-115.596,0:384:0:384:12029:0:0,384 chr1 237886514 . G A 4255.95 . AB=0.483264;ABP=4.17326;AC=1;AF=0.5;AN=2;AO=231;CIGAR=1X;DP=478;DPB=478;DPRA=0;EPP=55.8871;EPPR=48.8111;GTI=0;LEN=1;MEANALT=2;MQM=39.4459;MQMR=39.6527;NS=1;NUMALT=1;ODDS=979.969;PAIRED=0.965368;PAIREDR=0.983264;PAO=0;PQA=0;PQR=0;PRO=0;QA=7414;QR=7365;RO=239;RPL=196;RPP=246.676;RPPR=204.721;RPR=35;RUN=1;SAF=43;SAP=200.652;SAR=188;SF=0;SRF=41;SRP=226.963;SRR=198;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon74:c.G10641A:p.T3547T;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0006;1000g2015aug_all=0.00159744;avsnp147=rs144256966;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0035;ExAC_AMR=0.0005;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=52870;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.4204;dpsi_zscore=-2.241;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0039;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-486.201,0,-487.846:478:239:231:7414:7365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237890437 . C T 21064.81 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=781;CIGAR=1X;DP=93121;DPB=787;DPRA=0;EPP=216.346;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=38.6633;MQMR=0;NS=1;NUMALT=1;ODDS=1085.69;PAIRED=0.970551;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=23846;QR=0;RO=0;RPL=414;RPP=9.15215;RPPR=0;RPR=367;RUN=1;SAF=341;SAP=30.2607;SAR=440;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon76:c.C10776T:p.S3592S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9608;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9608;esp6500siv2_ea=0.9995;1000g2015aug_all=0.960264;avsnp147=rs2685301;Kaviar_AF=0.969903;Kaviar_AC=149949;Kaviar_AN=154602;ExAC_ALL=0.9885;ExAC_AFR=0.8705;ExAC_AMR=0.9949;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9933;ExAC_SAS=0.9992;CLNALLELEID=52871;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.5844;dpsi_zscore=-2.062;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9907;gnomAD_exome_AFR=0.8689;gnomAD_exome_AMR=0.9948;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9995;gnomAD_exome_OTH=0.9920;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9625;gnomAD_genome_AFR=0.8687;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9995;gnomAD_genome_OTH=0.9949;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2018.61,-235.104,0:787:0:781:23846:0 1/1:-2634.8,-299.656,0:1013:1:1005:30971:36 1/1:-2284.17,-254.591,0:858:2:852:26620:28 1/1:-1520.46,-174.898,0:589:0:581:17890:0 1/1:-2274.2,-258.527,0:872:1:862:26809:14 1/1:-2510.32,-290.456,0:972:1:966:29353:14 1/1:-1952.05,-219.807,0:750:2:740:23061:64 1/1:-2187.98,-253.835,0:855:1:848:26011:21 1/1:-1856.28,-209.517,0:705:0:696:21936:0 1/1:-2310.35,-266.619,0:897:1:891:27205:21 1/1:-2006.07,-233.668,0:789:1:781:23553:21 1/1:-2105.17,-237.266,0:802:2:796:24581:35 1/1:-1951.62,-218.247,0:737:0:725:22747:0 1/1:-1826.94,-210.382,0:710:1:700:21209:14 1/1:-1712.38,-194.319,0:656:1:651:20203:27 1/1:-2966.86,-341.012,0:1155:1:1136:34622:14 1/1:-1734.67,-198.445,0:678:3:667:20785:49 1/1:-3870.64,-431.656,0:1448:1:1437:45380:14 1/1:-2116.56,-233.236,0:801:2:789:24764:57 1/1:-1360.12,-156.235,0:524:0:519:16071:0 1/1:-1500.37,-173.092,0:582:0:575:17594:0 1/1:-2658.64,-298.536,0:1006:1:997:31224:21 1/1:-1485.89,-174.597,0:582:0:580:17620:0 1/1:-2474.92,-279.958,0:934:0:930:28863:0 1/1:-2473.14,-286.581,0:959:0:952:29343:0 1/1:-1591.17,-187.052,0:641:2:633:19136:68 1/1:-2113.69,-238.416,0:800:0:792:24815:0 1/1:-2442.41,-267.435,0:921:3:907:28659:82 1/1:-1547.62,-180.317,0:603:0:599:18332:0 1/1:-1502.5,-170.373,0:573:1:569:17508:14 1/1:-2059.23,-233.587,0:786:1:779:24194:14 1/1:-2756.46,-315.479,0:1054:0:1048:32149:0 1/1:-2387.21,-269.121,0:900:0:894:28226:0 1/1:-1042.7,-118.586,0:409:2:403:12376:50 1/1:-2243.13,-252.865,0:844:0:840:26340:0 1/1:-2638.51,-296.515,0:989:0:985:30694:0 1/1:-1237.55,-138.13,0:462:1:460:14380:14 1/1:-2302.51,-259.43,0:871:1:865:27144:14 1/1:-2026.55,-229.658,0:791:5:779:23900:83 1/1:-1148.04,-126.494,0:438:2:433:13463:50 1/1:-2710.43,-304.623,0:1021:1:1015:31801:14 1/1:-1757.9,-197.777,0:664:0:657:20577:0 1/1:-1940.04,-216.477,0:740:2:726:22647:41 1/1:-2036.08,-229.686,0:770:0:763:23807:0 1/1:-2840.87,-326.919,0:1092:0:1086:33322:0 1/1:-2454.06,-276.719,0:934:1:925:28820:32 1/1:-2090.35,-233.966,0:790:1:782:24377:21 1/1:-1285.36,-148.408,0:497:0:493:15010:0 1/1:-1999.65,-229.084,0:763:0:761:23459:0 1/1:-2433.91,-274.84,0:918:0:913:28603:0 1/1:-2219.57,-249.855,0:834:0:830:25886:0 1/1:-1937.91,-223.084,0:760:2:750:22878:46 1/1:-2527.4,-284.739,0:954:1:947:29504:14 1/1:-2276.61,-259.488,0:868:0:862:26519:0 1/1:-1493.91,-176.404,0:592:0:586:17658:0 1/1:-1636.67,-183.919,0:619:1:614:19189:14 1/1:-2093.01,-230.676,0:782:2:777:24438:50 1/1:-1493.58,-168.153,0:582:3:573:17777:96 1/1:-1552.7,-179.381,0:602:1:597:18269:14 1/1:-2018.06,-227.278,0:755:0:755:23640:0 1/1:-1368.09,-159.494,0:541:1:537:16506:27 1/1:-2743.53,-310.663,0:1043:0:1032:32078:0 1/1:-1702.83,-193.32,0:650:1:642:19846:14 1/1:-1643.18,-192.727,0:642:1:640:19578:14 1/1:-2715.02,-304.642,0:1019:0:1012:31776:0 1/1:-2140.76,-238.115,0:796:0:791:24967:0 1/1:-1364.93,-157.234,0:532:1:527:16196:21 1/1:-2207.48,-252.761,0:847:1:841:25854:27 1/1:-1534.42,-170.329,0:577:1:569:17957:14 1/1:-2146.31,-245.64,0:823:0:816:25358:0 1/1:-2117.58,-234.816,0:808:2:798:24818:68 1/1:-2555.37,-288.538,0:972:1:968:30099:36 1/1:-2507.43,-289.892,0:975:0:963:29309:0 1/1:-1560.37,-186.738,0:643:3:630:18510:78 1/1:-2016.97,-224.568,0:756:0:746:23664:0 1/1:-2490.16,-285.075,0:958:0:947:29112:0 1/1:-2392.79,-272.786,0:932:3:918:28303:55 1/1:-2351.75,-269.723,0:901:0:896:27580:0 1/1:-1379.94,-156.084,0:528:1:524:16166:27 1/1:-1416.07,-162.898,0:555:2:548:16749:41 1/1:-2282.44,-258.737,0:873:1:865:26846:27 1/1:-2490.32,-281.463,0:943:0:935:29285:0 1/1:-2447.39,-274.64,0:926:1:922:28811:36 1/1:-2050.58,-232.686,0:788:1:776:24130:14 1/1:-1727.92,-195.141,0:668:2:661:20525:50 1/1:-1864.1,-211.022,0:707:0:701:22010:0 1/1:-1739.38,-197.673,0:664:1:658:20426:27 1/1:-2492.99,-286.47,0:966:2:958:29384:28 1/1:-1315.33,-145.699,0:488:0:484:15406:0 1/1:-2375.09,-274.238,0:919:0:911:28010:0 1/1:-2870.02,-331.592,0:1116:1:1107:33902:27 1/1:-1834.08,-208.141,0:704:1:700:21690:32 1/1:-2309.64,-261.896,0:878:0:870:26851:0 1/1:-2270.37,-257.326,0:869:1:858:26673:14 1/1:-2563.59,-290.193,0:972:0:964:29967:0 . 1/1:-2401.46,-260.543,0:880:2:874:27787:41:2,874 1/1:-2678.22,-289.537,0:974:1:965:31059:14:1,965 1/1:-3076.41,-339.261,0:1133:0:1127:35572:0:0,1127 1/1:-1462.8,-160.498,0:537:1:533:16966:36:1,533 1/1:-2139.17,-226.616,0:779:3:774:24740:82:3,774 1/1:-2901.84,-320.754,0:1079:1:1074:33690:32:1,1074 1/1:-2547.44,-276.346,0:922:0:918:29363:0:0,918 1/1:-2713.44,-290.884,0:992:2:979:31425:50:2,979 1/1:-2523.91,-276.937,0:928:1:923:29202:14:1,923 1/1:-2242.86,-242.585,0:814:1:809:25966:14:1,809 1/1:-2517.65,-271.82,0:925:2:918:29115:63:2,918 1/1:-2279.08,-248.952,0:830:0:827:26186:0:0,827 1/1:-2452.58,-269.121,0:897:0:894:28493:0:0,894 1/1:-2342.45,-255.273,0:855:0:848:27000:0:0,848 1/1:-2331.55,-253.768,0:846:0:843:27052:0:0,843 1/1:-2443.29,-262.034,0:888:1:880:28245:36:1,880 1/1:-2616.04,-285.979,0:960:0:950:30332:0:0,950 1/1:-2347.36,-255.643,0:860:1:855:27288:32:1,855 1/1:-2607.64,-282.968,0:943:0:940:29914:0:0,940 1/1:-2251.58,-245.64,0:820:0:816:26124:0:0,816 chr1 237893674 . CT TT 19054.52 . 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1/1:.,.,0:469:1:447:12576:14:1,447 1/1:.,.,0:861:7:820:23063:120:7,820 1/1:.,.,0:1004:5:965:26879:70:5,965 1/1:.,.,0:771:6:729:19874:84:6,729 1/1:-1898.39,-235.529,0:868:2:790:21605:39:2,790 1/1:.,.,0:839:4:798:22544:56:4,798 1/1:.,.,0:750:4:716:19773:56:4,716 1/1:.,.,0:927:4:891:24799:56:4,891 1/1:.,.,0:781:5:741:20551:70:5,741 1/1:.,.,0:752:7:712:19889:98:7,712 1/1:.,.,0:804:3:768:21604:42:3,768 1/1:.,.,0:794:8:765:21439:119:8,765 1/1:.,.,0:822:7:783:21695:98:7,783 1/1:.,.,0:808:3:778:22197:42:3,778 1/1:.,.,0:762:3:732:20200:42:3,732 1/1:.,.,0:730:5:701:19803:70:5,701 1/1:.,.,0:750:4:708:19939:82:4,708 chr1 237905568 . TCCTTTTTTTTTTTTTTTAAATATACA TCCCTTTTTTTTTTTTTTTAAATATACA,TCCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTAAATATACA 590.83 . 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=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0633;gnomAD_genome_AFR=0.0399;gnomAD_genome_AMR=0.0852;gnomAD_genome_ASJ=0.0733;gnomAD_genome_EAS=0.0463;gnomAD_genome_FIN=0.0558;gnomAD_genome_NFE=0.0794;gnomAD_genome_OTH=0.0562;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397516499;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.3046;ExAC_AFR=0.3171;ExAC_AMR=0.2849;ExAC_EAS=0.3392;ExAC_FIN=0.2743;ExAC_NFE=0.2724;ExAC_OTH=0.3066;ExAC_SAS=0.3438;CLNALLELEID=52872;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0107;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0583;gnomAD_genome_ASJ=0.0216;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0813;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0046;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:.,.,-289.29,.,.,.,.,.,.,.,.,.,.,.,.:441:188:100,.,.,.:1890,.,.,.:5219 0/1:.,.,-203.27,.,.,.,.,.,.,.,.,.,.,.,.:339:140:91,.,.,.:1813,.,.,.:3967 . . . 0/1:.,.,-218.27,.,.,.,.,.,.,.,.,.,.,.,.:345:149:87,.,.,.:1487,.,.,.:4239 . 0/1:.,.,-192.336,.,.,.,.,.,.,.,.,.,.,.,.:270:118:64,.,.,.:988,.,.,.:3313 . 0/1:.,.,-244.597,.,.,.,.,.,.,.,.,.,.,.,.:321:160:79,.,.,.:1501,.,.,.:4427 . . . . . . . . . . . . . 0/1:.,.,-276.919,.,.,.,.,.,.,.,.,.,.,.,.:375:175:86,.,.,.:1678,.,.,.:4888 0/1:.,.,-210.559,.,.,.,.,.,.,.,.,.,.,.,.:292:130:67,.,.,.:1321,.,.,.:3658 . . . . . . 0/1:.,.,-159.323,.,.,.,.,.,.,.,.,.,.,.,.:426:121:159,.,.,.:2963,.,.,.:3423 . . 0/1:.,.,-233.067,.,.,.,.,.,.,.,.,.,.,.,.:378:163:96,.,.,.:1875,.,.,.:4507 . . . 0/1:.,.,-114.51,.,.,.,.,.,.,.,.,.,.,.,.:183:84:43,.,.,.:765,.,.,.:2344 . . . 0/1:.,.,-194.143,.,.,.,.,.,.,.,.,.,.,.,.:332:137:88,.,.,.:1667,.,.,.:3723 . . 0/1:.,.,-174.742,.,.,.,.,.,.,.,.,.,.,.,.:348:126:85,.,.,.:1503,.,.,.:3371 . . . . . 0/1:.,.,-306.994,.,.,.,.,.,.,.,.,.,.,.,.:464:209:103,.,.,.:1957,.,.,.:5783 . . . . . . . 0/1:.,.,-97.2419,.,.,.,.,.,.,.,.,.,.,.,.:291:81:110,.,.,.:2120,.,.,.:2107 . . . . . 0/1:.,.,-160.921,.,.,.,.,.,.,.,.,.,.,.,.:287:115:73,.,.,.:1145,.,.,.:3114 0/1:.,.,-285.203,.,.,.,.,.,.,.,.,.,.,.,.:409:178:88,.,.,.:1674,.,.,.:4998 0/1:.,.,-115.966,.,.,.,.,.,.,.,.,.,.,.,.:322:91:142,.,.,.:2621,.,.,.:2513 . 0/1:.,.,-229.189,.,.,.,.,.,.,.,.,.,.,.,.:320:149:78,.,.,.:1664,.,.,.:4192 . . . . . . . . . 0/1:.,.,-118.23,.,.,.,.,.,.,.,.,.,.,.,.:362:101:154,.,.,.:2929,.,.,.:2875 0/1:.,.,-188.386,.,.,.,.,.,.,.,.,.,.,.,.:355:134:90,.,.,.:1674,.,.,.:3625 . 0/1:.,.,-92.5439,.,.,.,.,.,.,.,.,.,.,.,.:331:86:151,.,.,.:2660,.,.,.:2270 . . 0/1:.,.,-88.6917,.,.,.,.,.,.,.,.,.,.,.,.:326:77:136,.,.,.:2688,.,.,.:2051 0/1:.,.,-132.774,.,.,.,.,.,.,.,.,.,.,.,.:406:106:174,.,.,.:3169,.,.,.:2974 . . . . . . . . . 0/0:0,-2.0536,-47.4175,-1.49505,-43.4949,-47.1601,.,.,.,.,.,.,.,.,.:270:25:15,14,.,.:339,348,.,.:747:25,15,14 . 0/1:-9.57395,0,-15.6141,.,.,.,.,.,.,.,.,.,.,.,.:176:10:15,.,.,.:326,.,.,.:287:10,15 . . 0/4:-9.61559,.,.,.,.,.,.,.,.,.,0,.,.,.,-56.0211:296:41:.,.,.,23:.,.,.,544:1183:41,23 . . 0/3:-0.78281,.,.,.,.,.,0,.,.,-42.3232,-0.507533,.,.,-37.5335,-42.7031:249:28:.,.,16,16:.,.,358,345:834:28,16,16 0/1:-16.3444,0,-38.275,.,.,.,.,.,.,.,.,.,.,.,.:312:20:22,.,.,.:514,.,.,.:581:20,22 0/4:-25.6931,.,.,.,.,.,.,.,.,.,0,.,.,.,-47.5498:255:28:.,.,.,25:.,.,.,593:808:28,25 1/2:.,.,-77.0492,.,0,-146.391,.,.,.,.,.,.,.,.,.:336:6:108,70,.,.:2358,1553,.,.:145:6,108,70 0/0:0,.,.,.,.,.,-17.7387,.,.,-49.1341,-14.3378,.,.,-58.6562,-45.1223:314:31:.,.,16,17:.,.,287,333:910:31,17,16 0/0:0,-10.0738,-21.6501,.,.,.,.,.,.,.,-12.9982,-33.8295,.,.,-25.769:275:18:16,.,.,15:318,.,.,297:522:18,15,16 . 0/1:-18.8554,0,-62.8019,.,.,.,.,.,.,.,.,.,.,.,.:409:35:25,.,.,.:580,.,.,.:1003:35,25 1/2:.,.,-79.3878,.,0,-106.934,.,.,.,.,.,.,.,.,.:326:9:96,66,.,.:1845,1497,.,.:202:9,96,66 . 0/1:-9.58226,0,-27.1945,.,.,.,.,.,.,.,.,.,.,.,.:223:19:13,.,.,.:325,.,.,.:554:19,13 chr1 237905569 . CCTTTTTTTTTTTTTTTAAATATACA CCTTTTTTTTTTTTTTAAATATACA,ACTTTTTTTTTTTTTTTAAATATACA,TCTTTTTTTTTTTTTTTAAATATACA 114.17 . AB=0,0;ABP=0,0;AC=1,0,0;AF=0,0;AN=4;AO=22,52;CIGAR=1X,1X;DP=758;DPB=431;DPRA=0,0;EPP=17.2236,99.2232;EPPR=42.9454;GTI=0;LEN=1,1;MEANALT=3,3;MQM=31.0909,32.0577;MQMR=31.5517;NS=1;NUMALT=2;ODDS=303.499;PAIRED=1,0.923077;PAIREDR=0.956897;PAO=0,0;PQA=0,0;PQR=0;PRO=0;QA=407,1052;QR=9780;RO=348;RPL=6,2;RPP=12.8806,99.2232;RPPR=3.63429;RPR=16,50;RUN=1,1;SAF=5,0;SAP=17.2236,115.927;SAR=17,52;SF=1;SRF=287;SRP=321.718;SRR=61;TYPE=snp,snp;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397516499;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.3046;ExAC_AFR=0.3171;ExAC_AMR=0.2849;ExAC_EAS=0.3392;ExAC_FIN=0.2743;ExAC_NFE=0.2724;ExAC_OTH=0.3066;ExAC_SAS=0.3438;CLNALLELEID=52872;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0107;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0583;gnomAD_genome_ASJ=0.0216;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0813;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0046;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2768;dpsi_zscore=0.856;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0606;dpsi_zscore=0.344;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-680.213,.,.,-616.67,-627.785:431:348:.,22,52:.,407,1052:9780:348,22,52 . . . . . . . . . 0/1:-28.9596,0,-60.1553,.,.,.,.,.,.,.:327:37:36,.,.:754,.,.:1089:37,36 . . . . chr1 237905570 . CTTTTTTTTTTTTTTTA CTTTTTTTTTTTTTTTTA,CTTTTTTTTTTTTTTA 974.38 . AB=0.271347;ABP=242.33;AC=2,1;AF=0.5;AN=6;AO=143;CIGAR=1M1D15M;DP=1722;DPB=528.059;DPRA=0;EPP=6.42695;EPPR=5.05886;GTI=0;LEN=1;MEANALT=76;MQM=31.6923;MQMR=31.3679;NS=1;NUMALT=1;ODDS=298.131;PAIRED=0.993007;PAIREDR=0.990566;PAO=17;PQA=349.5;PQR=444.5;PRO=20;QA=2827;QR=3117;RO=106;RPL=72;RPP=3.02549;RPPR=3.09224;RPR=71;RUN=1;SAF=102;SAP=59.5141;SAR=41;SF=0;SRF=82;SRP=71.9238;SRR=24;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730882115;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;ExAC_ALL=0.0828;ExAC_AFR=0.0832;ExAC_AMR=0.0866;ExAC_EAS=0.0686;ExAC_FIN=0.0834;ExAC_NFE=0.0840;ExAC_OTH=0.0755;ExAC_SAS=0.0822;CLNALLELEID=172569;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0633;gnomAD_genome_AFR=0.0399;gnomAD_genome_AMR=0.0852;gnomAD_genome_ASJ=0.0733;gnomAD_genome_EAS=0.0463;gnomAD_genome_FIN=0.0558;gnomAD_genome_NFE=0.0794;gnomAD_genome_OTH=0.0562;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397516499;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.3046;ExAC_AFR=0.3171;ExAC_AMR=0.2849;ExAC_EAS=0.3392;ExAC_FIN=0.2743;ExAC_NFE=0.2724;ExAC_OTH=0.3066;ExAC_SAS=0.3438;CLNALLELEID=52872;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0107;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0583;gnomAD_genome_ASJ=0.0216;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0813;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0046;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/2:-150.468,.,.,0,.,-144.022:527:106:.,143:.,2827:3117 . . . . . . . . . . . . . . . . 0/1:-127.148,0,-162.937,.,.,.:777:148:185,.:3241,.:4405 . . . . . . . . . . . . 0/1:-66.0898,0,-66.9256,.,.,.:418:73:110,.:1823,.:2107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237905571 . T C 407.10 . AB=0.287846;ABP=186.363;AC=7;AF=0.5;AN=14;AO=135;CIGAR=1X;DP=2763;DPB=469;DPRA=0;EPP=25.0306;EPPR=116.356;GTI=0;LEN=1;MEANALT=3;MQM=30.1185;MQMR=27.9482;NS=1;NUMALT=1;ODDS=178.167;PAIRED=0.985185;PAIREDR=0.951456;PAO=0;PQA=0;PQR=0;PRO=0;QA=3365;QR=9007;RO=309;RPL=71;RPP=3.79846;RPPR=36.4678;RPR=64;RUN=1;SAF=102;SAP=79.5909;SAR=33;SF=0;SRF=165;SRP=6.10939;SRR=144;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs3753630;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.1701;ExAC_AFR=0.1095;ExAC_AMR=0.2157;ExAC_EAS=0.1379;ExAC_FIN=0.1190;ExAC_NFE=0.1644;ExAC_OTH=0.1395;ExAC_SAS=0.1904;CLNALLELEID=249832;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0282;dpsi_zscore=0.186;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0879;gnomAD_exome_AFR=0.0163;gnomAD_exome_AMR=0.1008;gnomAD_exome_ASJ=0.0818;gnomAD_exome_EAS=0.0726;gnomAD_exome_FIN=0.0875;gnomAD_exome_NFE=0.0948;gnomAD_exome_OTH=0.1015;gnomAD_exome_SAS=0.0917;gnomAD_genome_ALL=0.0054;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0160;gnomAD_genome_ASJ=0.0144;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0334;gnomAD_genome_NFE=0.0051;gnomAD_genome_OTH=0.0119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-109.725,0,-457.069:469:309:135:3365:9007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-54.6877,0,-319.739:330:217:89:2060:5965 . . . . . . . 0/1:-75.7987,0,-347.378:366:253:99:2499:6992 . . . . . . . . . . . 0/1:-81.9872,0,-383.071:398:274:106:2760:7616 . . 0/1:-49.6776,0,-356.653:369:264:84:2206:7282 . . 0/1:-67.2997,0,-374.58:377:263:90:2267:7287 0/1:-76.2971,0,-466.777:454:324:111:2832:9213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237919725 . T G 5185.30 . AB=0.46223;ABP=9.89965;AC=2;AF=0.5;AN=4;AO=257;CIGAR=1X;DP=1223;DPB=556;DPRA=0;EPP=11.1301;EPPR=4.68927;GTI=0;LEN=1;MEANALT=3;MQM=38.2335;MQMR=38.3849;NS=1;NUMALT=1;ODDS=1127.62;PAIRED=0.957198;PAIREDR=0.948454;PAO=0;PQA=0;PQR=0;PRO=0;QA=7871;QR=8841;RO=291;RPL=129;RPP=3.01875;RPPR=7.67412;RPR=128;RUN=1;SAF=109;SAP=15.8617;SAR=148;SF=0;SRF=106;SRP=49.5813;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0091;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0091;1000g2015aug_all=0.00239617;avsnp147=rs2685293;Kaviar_AF=0.0050387;Kaviar_AC=779;Kaviar_AN=154602;ExAC_ALL=0.0050;ExAC_AFR=0.0012;ExAC_AMR=0.0019;ExAC_EAS=0.0070;ExAC_FIN=0.0023;ExAC_NFE=0.0065;ExAC_OTH=0.0048;ExAC_SAS=0.0027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1628;dpsi_zscore=-0.609;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0.0069;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0076;gnomAD_exome_OTH=0.0045;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0054;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0136;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0082;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-499.653,0,-573.085:556:291:257:7871:8841 . . . . . . . . . 0/1:-566.844,0,-684.465:667:360:305:9157:11053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237923053 . C T 13673.72 . AB=0;ABP=0;AC=158;AF=1;AN=204;AO=815;CIGAR=1X;DP=83049;DPB=842;DPRA=0;EPP=357.973;EPPR=4.09604;GTI=0;LEN=1;MEANALT=3;MQM=39.4319;MQMR=32;NS=1;NUMALT=1;ODDS=1068.95;PAIRED=0.977914;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=22631;QR=190;RO=8;RPL=362;RPP=25.0741;RPPR=3.0103;RPR=453;RUN=1;SAF=431;SAP=8.89592;SAR=384;SF=0,1;SRF=3;SRP=4.09604;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.7260;esp6500siv2_ea=0.6923;esp6500siv2_all=0.7260;esp6500siv2_ea=0.6923;1000g2015aug_all=0.761581;avsnp147=rs2253831;Kaviar_AF=0.69688;Kaviar_AC=107739;Kaviar_AN=154602;ExAC_ALL=0.7109;ExAC_AFR=0.7998;ExAC_AMR=0.7357;ExAC_EAS=0.7763;ExAC_FIN=0.7446;ExAC_NFE=0.6849;ExAC_OTH=0.7222;ExAC_SAS=0.6978;CLNALLELEID=249833;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0486;dpsi_zscore=-0.259;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7134;gnomAD_exome_AFR=0.8010;gnomAD_exome_AMR=0.7381;gnomAD_exome_ASJ=0.7137;gnomAD_exome_EAS=0.7783;gnomAD_exome_FIN=0.7392;gnomAD_exome_NFE=0.6833;gnomAD_exome_OTH=0.7127;gnomAD_exome_SAS=0.6973;gnomAD_genome_ALL=0.7296;gnomAD_genome_AFR=0.7983;gnomAD_genome_AMR=0.7602;gnomAD_genome_ASJ=0.7053;gnomAD_genome_EAS=0.7803;gnomAD_genome_FIN=0.7470;gnomAD_genome_NFE=0.6808;gnomAD_genome_OTH=0.7004;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1940.34,-232.011,0:842:8:815:22631:190 0/1:-953.783,0,-735.385:957:409:517:14308:11710 0/1:-910.352,0,-726.172:897:398:477:13581:11742 1/1:-1399.37,-167.449,0:613:5:591:16462:136 1/1:-2075.4,-249.994,0:910:7:875:24273:204 1/1:-2039.87,-247.35,0:882:7:852:23685:185 0/1:-747.823,0,-623.316:759:339:402:11322:9735 1/1:-1849.31,-210.388,0:845:14:803:22029:402 0/1:-604.395,0,-583.937:688:320:348:9475:9106 0/1:-1007.25,0,-885.426:1080:497:559:15362:13917 0/1:-616.516,0,-699.616:740:370:348:9596:10584 0/1:-869.723,0,-730.427:887:398:468:13066:11564 1/1:-1960.49,-235.983,0:847:5:822:22680:146 1/1:-1768.36,-219.19,0:772:5:749:20849:88 0/1:-704.22,0,-581.211:718:322:374:10651:9127 1/1:-2639.07,-319.924,0:1122:5:1094:30679:123 0/1:-637.667,0,-583.655:695:320:351:9719:9063 1/1:-3775.1,-449.756,0:1599:7:1557:43924:239 1/1:-1601.01,-200.888,0:691:1:673:18499:27 1/1:-1381.33,-174.878,0:603:1:584:15917:14 1/1:-1191.93,-148.955,0:518:1:498:13904:14 1/1:-2359.01,-291.916,0:993:1:975:27403:21 1/1:-1306.65,-170.329,0:583:1:569:15287:14 1/1:-2207.92,-263.095,0:944:6:918:25683:170 0/1:-840.589,0,-716.637:870:381:468:12873:11191 0/1:-618.084,0,-731.061:781:392:362:9896:11328 0/1:-691.782,0,-934.392:889:476:393:10999:13810 1/1:-2212.36,-272.502,0:943:3:920:25760:60 1/1:-1388.89,-164.957,0:626:9:602:16317:214 1/1:-1340.06,-156.635,0:588:6:565:15712:177 1/1:-1748.67,-211.396,0:765:7:740:20498:163 . . 0/1:-286.581,0,-279.403:333:156:168:4434:4451 1/1:-2117.83,-238.973,0:923:14:885:24654:367 0/1:-767.267,0,-888.778:929:464:441:11973:13358 1/1:-740.227,-86.589,0:343:7:321:8672:149 1/1:-2185.67,-267.772,0:957:6:921:25428:128 0/1:-620.205,0,-766.861:789:401:369:9864:11533 0/1:-393.722,0,-427.58:481:235:231:6222:6602 0/1:-901.7,0,-915.693:1038:492:516:13993:14251 0/1:-644.177,0,-610.901:690:324:344:9842:9397 1/1:-1776.27,-207.657,0:756:8:728:20641:169 0/1:-650.216,0,-787.429:801:414:368:10203:11758 1/1:-2860.89,-356.273,0:1237:1:1193:33436:36 1/1:-1947.53,-230.925,0:844:8:814:22676:185 0/1:-704.26,0,-709.689:805:384:404:10935:10965 1/1:-1084.45,-136.066,0:467:0:452:12543:0 . 1/1:-2348.57,-285.321,0:1018:7:990:27257:174 1/1:-1972.99,-240.815,0:852:3:821:22944:82 0/1:-703.048,0,-777.252:848:419:404:11000:11985 0/1:-1165.29,0,-1035.25:1215:561:630:17718:16218 1/1:-2135.49,-262.345,0:900:1:881:24773:36 0/1:-587.78,0,-682.529:720:359:344:9221:10418 1/1:-1458.74,-156.748,0:633:12:607:17215:334 1/1:-1850.51,-216.092,0:796:7:759:21539:173 . 1/1:-1506.98,-187.183,0:636:1:625:17545:14 1/1:-1481.57,-175.268,0:652:8:631:17273:206 . 1/1:-2622.31,-313.267,0:1122:8:1095:30685:218 . 0/1:-548.637,0,-609.75:658:330:310:8637:9325 1/1:-2321.56,-257.685,0:1017:16:975:27129:458 0/1:-812.61,0,-752.418:845:395:430:12226:11566 0/1:-501.263,0,-413.974:526:227:281:7559:6650 0/1:-721.443,0,-742.916:816:404:389:11035:11419 0/1:-637.588,0,-439.402:618:249:353:9510:7152 1/1:-1740.11,-220.832,0:812:8:775:20477:179 0/1:-743.924,0,-549.582:751:325:409:11224:8924 0/1:-913.615,0,-780.194:931:419:484:13775:12088 1/1:-2345.9,-286.564,0:1023:5:990:27267:146 0/1:-471.544,0,-376.357:553:232:302:7527:6338 0/1:-707.192,0,-629.446:737:340:376:10644:9772 1/1:-2425.57,-286.941,0:1064:9:1028:28243:295 . 1/1:-2197.4,-267.295,0:937:4:910:25635:113 0/1:-494.699,0,-550.75:603:287:292:7834:8327 1/1:-1492.6,-182.962,0:648:5:630:17461:112 0/1:-686.567,0,-808.962:867:427:401:10815:12235 1/1:-2224.83,-269.979,0:950:5:928:25907:134 1/1:-2087.06,-254.144,0:920:8:891:24178:191 . 1/1:-1456.63,-170.49,0:672:11:636:17132:272 1/1:-1637.73,-200.573,0:701:3:684:18988:77 0/1:-615.928,0,-692.107:746:371:354:9754:10454 . 0/1:-415.246,0,-409.925:451:217:225:6388:6216 1/1:-2051.18,-241.493,0:898:11:867:24203:297 1/1:-2690.53,-298.685,0:1179:19:1140:31807:572 1/1:-1739.15,-211.29,0:756:5:727:20172:108 1/1:-2085.21,-257.836,0:893:4:876:24490:81 0/1:-655.221,0,-750.118:791:401:365:10204:11360 1/1:-2033.62,-243.813,0:878:7:858:23848:187 . 1/1:-1997.76,-207.653,0:773:7:750:23296:230:7,750 0/1:-896.365,0,-911.684:879:431:433:13337:13430:431,433 1/1:-2541.86,-267.632,0:1001:11:970:29729:325:11,970 0/1:-430.808,0,-473.118:456:234:214:6476:6952:234,214 0/1:-893.465,0,-810.364:834:391:429:13211:12192:391,429 1/1:-2608.78,-279.975,0:1013:9:989:30223:232:9,989 0/1:-979.536,0,-785.449:871:387:474:14230:12052:387,474 . 1/1:-2261.85,-255.255,0:870:1:851:26042:14:1,851 1/1:-2132.31,-234.888,0:816:3:800:24555:77:3,800 0/1:-976.357,0,-926.158:947:460:471:14571:14097:460,471 0/1:-929.425,0,-641.074:775:331:431:13353:10046:331,431 . 0/1:-820.274,0,-896.678:829:420:401:12275:13173:420,401 0/1:-904.493,0,-895.177:910:440:454:13424:13349:440,454 1/1:-1994.6,-213.156,0:780:7:762:23289:206:7,762 . . 1/1:-2177.4,-238.412,0:830:2:811:25070:72:2,811 0/1:-802.272,0,-788.254:792:382:394:11861:11804:382,394 chr1 237923081 . G A 4141.99 . AB=0.471783;ABP=6.07389;AC=1;AF=0.5;AN=2;AO=209;CIGAR=1X;DP=443;DPB=443;DPRA=0;EPP=18.8132;EPPR=43.7857;GTI=0;LEN=1;MEANALT=3;MQM=39.9952;MQMR=40.0311;NS=1;NUMALT=1;ODDS=953.729;PAIRED=1;PAIREDR=0.982222;PAO=0;PQA=0;PQR=0;PRO=0;QA=6465;QR=6701;RO=225;RPL=121;RPP=14.3248;RPPR=4.17807;RPR=88;RUN=1;SAF=100;SAP=3.85188;SAR=109;SF=0;SRF=100;SRP=9.04217;SRR=125;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon83:c.G11331A:p.M3777I;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.148;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.645;MutationAssessor_pred=M;FATHMM_score=-2.55;FATHMM_pred=D;PROVEAN_score=-3.4;PROVEAN_pred=D;VEST3_score=0.819;CADD_raw=4.805;CADD_phred=24.8;DANN_score=0.991;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=0.314;MetaSVM_pred=D;MetaLR_score=0.699;MetaLR_pred=D;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.59;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.596;GDI_full_10282015=.;dpsi_max_tissue=0.5575;dpsi_zscore=1.189;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-424.316,0,-447.13:443:225:209:6465:6701 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237924352 . G A 7378.69 . AB=0.453071;ABP=19.519;AC=2;AF=0.5;AN=4;AO=391;CIGAR=1X;DP=1910;DPB=863;DPRA=0;EPP=64.2392;EPPR=4.40797;GTI=0;LEN=1;MEANALT=3;MQM=39.2251;MQMR=39.2027;NS=1;NUMALT=1;ODDS=1563.91;PAIRED=0.974425;PAIREDR=0.951002;PAO=0;PQA=0;PQR=0;PRO=0;QA=11136;QR=13302;RO=449;RPL=170;RPP=17.4553;RPPR=23.4434;RPR=221;RUN=1;SAF=169;SAP=18.6105;SAR=222;SF=0,1;SRF=191;SRP=24.7202;SRR=258;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752071663;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0843;dpsi_zscore=0.433;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.863e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.068e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.661e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-696.997,0,-877.267:863:449:391:11136:13302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1042.29,0,-1051.21:1047:515:514:15628:16189:515,514 . . . . . . . . . . . . . . chr1 237934206 . C T 2248.86 . AB=0.438312;ABP=13.1908;AC=1;AF=0.5;AN=2;AO=135;CIGAR=1X;DP=308;DPB=308;DPRA=0;EPP=38.542;EPPR=42.8774;GTI=0;LEN=1;MEANALT=3;MQM=38.963;MQMR=39.1634;NS=1;NUMALT=1;ODDS=517.819;PAIRED=0.985185;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3880;QR=4545;RO=153;RPL=75;RPP=6.62942;RPPR=8.13384;RPR=60;RUN=1;SAF=31;SAP=88.7272;SAR=104;SF=0;SRF=36;SRP=96.1281;SRR=117;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0171;esp6500siv2_ea=0.0227;esp6500siv2_all=0.0171;esp6500siv2_ea=0.0227;1000g2015aug_all=0.0061901;avsnp147=rs113408406;Kaviar_AF=0.0080853;Kaviar_AC=1250;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0045;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0431;ExAC_NFE=0.0229;ExAC_OTH=0.0099;ExAC_SAS=0.0019;CLNALLELEID=45392;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2938;dpsi_zscore=-0.844;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0177;gnomAD_exome_AFR=0.0043;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0027;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0430;gnomAD_exome_NFE=0.0285;gnomAD_exome_OTH=0.0155;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0220;gnomAD_genome_AFR=0.0049;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0458;gnomAD_genome_NFE=0.0295;gnomAD_genome_OTH=0.0276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-244.884,0,-301.968:308:153:135:3880:4545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237941945 . G A 6250.69 . AB=0.447197;ABP=21.5853;AC=19;AF=0.5;AN=38;AO=343;CIGAR=1X;DP=13726;DPB=767;DPRA=0;EPP=10.7656;EPPR=46.976;GTI=0;LEN=1;MEANALT=3;MQM=38.3294;MQMR=38.9169;NS=1;NUMALT=1;ODDS=1415.07;PAIRED=0.973761;PAIREDR=0.953545;PAO=0;PQA=0;PQR=0;PRO=0;QA=10028;QR=11723;RO=409;RPL=178;RPP=4.08021;RPPR=6.88072;RPR=165;RUN=1;SAF=166;SAP=3.77633;SAR=177;SF=0,1;SRF=191;SRP=6.88072;SRR=218;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0406;esp6500siv2_ea=0.0458;esp6500siv2_all=0.0406;esp6500siv2_ea=0.0458;1000g2015aug_all=0.0445288;avsnp147=rs80013027;Kaviar_AF=0.0432336;Kaviar_AC=6684;Kaviar_AN=154602;ExAC_ALL=0.0444;ExAC_AFR=0.0311;ExAC_AMR=0.0162;ExAC_EAS=0.0693;ExAC_FIN=0.0706;ExAC_NFE=0.0427;ExAC_OTH=0.0459;ExAC_SAS=0.0557;CLNALLELEID=249834;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.1664;dpsi_zscore=-2.519;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0450;gnomAD_exome_AFR=0.0294;gnomAD_exome_AMR=0.0202;gnomAD_exome_ASJ=0.0200;gnomAD_exome_EAS=0.0671;gnomAD_exome_FIN=0.0700;gnomAD_exome_NFE=0.0452;gnomAD_exome_OTH=0.0379;gnomAD_exome_SAS=0.0552;gnomAD_genome_ALL=0.0461;gnomAD_genome_AFR=0.0339;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0167;gnomAD_genome_EAS=0.0536;gnomAD_genome_FIN=0.0719;gnomAD_genome_NFE=0.0483;gnomAD_genome_OTH=0.0407;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-623.708,0,-763.148:767:409:343:10028:11723 . . . 0/1:-671.088,0,-769.507:766:385:368:10615:11666 0/1:-747.012,0,-877.636:891:444:414:11838:13291 0/1:-600.491,0,-743.474:715:377:333:9665:11213 0/1:-518.552,0,-837.512:734:413:304:8635:12225 . . 0/1:-770.002,0,-589.15:726:318:395:11588:9445 . 0/1:-590.009,0,-678.001:672:339:318:9274:10287 . . . 0/1:-522.255,0,-512.155:588:282:296:8169:8170 . . . 0/1:-448.956,0,-556.525:547:283:252:7049:8471 . . 0/1:-685.487,0,-826.602:835:419:396:11060:12499 . . . . 0/1:-457.592,0,-537.114:574:286:268:7432:8214 0/1:-412.367,0,-580.503:521:282:231:6638:8528 . . . . . . . 0/1:-672.158,0,-947.432:866:460:388:11046:14132 . . . . . . . . . . . . 0/1:-616.012,0,-757.061:747:389:343:9861:11521 . . . . . . . . 0/1:-535.557,0,-608.166:611:307:292:8476:9261 . . . . . . . 0/1:-633.04,0,-851.725:799:432:353:10342:12636 . . . . . . . . . . . . . . . . 0/1:-496.45,0,-542.503:568:282:270:7869:8428 . . . . . . . . . . . . . . . . 0/1:-839.657,0,-1075.49:930:497:414:13070:15722:497,414 . . . . 0/1:-961.138,0,-870.501:869:423:435:14019:13147:423,435 . . . . . . . . . chr1 237942082 . AACTGC AC 2922.65 . AB=0.390625;ABP=62.8615;AC=14;AF=0.5;AN=28;AO=225;CIGAR=1M4D1M;DP=7656;DPB=445.167;DPRA=0;EPP=4.64132;EPPR=9.09042;GTI=0;LEN=4;MEANALT=24;MQM=36.5867;MQMR=40.4036;NS=1;NUMALT=1;ODDS=721.171;PAIRED=0.982222;PAIREDR=0.957143;PAO=23;PQA=672.5;PQR=693.5;PRO=26;QA=5269;QR=8817;RO=280;RPL=150;RPP=57.2971;RPPR=65.8279;RPR=75;RUN=1;SAF=118;SAP=4.17807;SAR=107;SF=0,1;SRF=125;SRP=9.99003;SRR=155;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0120;esp6500siv2_ea=0.0158;esp6500siv2_all=0.0120;esp6500siv2_ea=0.0158;1000g2015aug_all=0.00978435;avsnp147=rs199562036;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;ExAC_ALL=0.0111;ExAC_AFR=0.0015;ExAC_AMR=0.0065;ExAC_EAS=0.0001;ExAC_FIN=0.0038;ExAC_NFE=0.0141;ExAC_OTH=0.0089;ExAC_SAS=0.0167;CLNALLELEID=172571;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0111;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0086;gnomAD_exome_ASJ=0.0044;gnomAD_exome_EAS=5.813e-05;gnomAD_exome_FIN=0.0030;gnomAD_exome_NFE=0.0153;gnomAD_exome_OTH=0.0136;gnomAD_exome_SAS=0.0173;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-327.562,0,-650.644:576:280:225:5269:8817 0/1:-278.818,0,-514.452:516:239:210:4922:7379 0/1:-331.194,0,-543.386:592:253:256:5863:7881 . . . . 0/1:-252.186,0,-596.546:549:266:203:4841:8298 . . . 0/1:-239.83,0,-507.346:500:237:190:4433:7290 . . . 0/1:-171.142,0,-378.662:349:176:127:3041:5435 . . 0/1:-401.715,0,-682.714:689:311:286:6557:9764 . . . . 0/1:-198.282,0,-434.118:418:196:160:3676:5975 0/1:-226.174,0,-396.805:425:186:180:3933:5858 . . . . . . . 0/1:-275.588,0,-773.686:665:353:246:5300:10961 . . . . . . . . . . . . 0/1:-321.377,0,-607.021:574:273:236:5372:8622 . . . . . . . . 0/1:-249.406,0,-423.516:448:200:174:4066:6187 . . . . . . . 0/1:-309.181,0,-575.335:565:260:228:5622:8151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-454.107,0,-844.919:790:382:326:7795:12087:382,326 . . . . . . . . . . . . . . chr1 237946964 . T C 6198.37 . AB=0.477612;ABP=5.34382;AC=67;AF=0.5;AN=118;AO=256;CIGAR=1X;DP=31816;DPB=536;DPRA=0;EPP=27.7447;EPPR=3.04223;GTI=0;LEN=1;MEANALT=3;MQM=39.4414;MQMR=39.8934;NS=1;NUMALT=1;ODDS=1051.27;PAIRED=0.988281;PAIREDR=0.985294;PAO=0;PQA=0;PQR=0;PRO=0;QA=7611;QR=8541;RO=272;RPL=96;RPP=37.7539;RPPR=19.9031;RPR=160;RUN=1;SAF=195;SAP=155.319;SAR=61;SF=0,1;SRF=180;SRP=64.8334;SRR=92;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.3267;esp6500siv2_ea=0.3387;esp6500siv2_all=0.3267;esp6500siv2_ea=0.3387;1000g2015aug_all=0.414736;avsnp147=rs790889;Kaviar_AF=0.356794;Kaviar_AC=55161;Kaviar_AN=154602;ExAC_ALL=0.4859;ExAC_AFR=0.3923;ExAC_AMR=0.5191;ExAC_EAS=0.7067;ExAC_FIN=0.4275;ExAC_NFE=0.4541;ExAC_OTH=0.5017;ExAC_SAS=0.5312;CLNALLELEID=52885;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1219;dpsi_zscore=-0.512;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3822;gnomAD_exome_AFR=0.3147;gnomAD_exome_AMR=0.3894;gnomAD_exome_ASJ=0.4316;gnomAD_exome_EAS=0.6644;gnomAD_exome_FIN=0.3507;gnomAD_exome_NFE=0.3349;gnomAD_exome_OTH=0.3658;gnomAD_exome_SAS=0.4253;gnomAD_genome_ALL=0.3555;gnomAD_genome_AFR=0.3130;gnomAD_genome_AMR=0.3866;gnomAD_genome_ASJ=0.4371;gnomAD_genome_EAS=0.6710;gnomAD_genome_FIN=0.3587;gnomAD_genome_NFE=0.3411;gnomAD_genome_OTH=0.3712;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-485.263,0,-570.538:536:272:256:7611:8541 . . 0/1:-472.621,0,-343.009:394:169:220:6808:5367 0/1:-672.353,0,-581.883:650:300:344:10094:9165 0/1:-572.66,0,-681.158:635:325:299:8851:10065 . 0/1:-492.017,0,-690.509:592:322:265:7762:10061 0/1:-517.368,0,-301.581:413:156:252:7426:4983 0/1:-598.273,0,-808.195:700:380:313:9321:11932 0/1:-528.982,0,-542.606:552:263:281:8057:8349 . . 0/1:-431.354,0,-414.578:444:209:229:6549:6382 0/1:-424.608,0,-494.346:461:236:222:6613:7433 1/1:-1891.25,-200.3,0:784:12:750:22293:349 0/1:-509.144,0,-429.294:485:215:257:7568:6739 . 0/1:-589.34,0,-569.384:581:272:299:8769:8588 . . 0/1:-620.794,0,-694.811:659:338:313:9495:10456 . . 0/1:-561.6,0,-623.272:610:304:295:8617:9310 0/1:-518.469,0,-457.97:504:235:262:7793:7089 . 1/1:-1502.15,-160.83,0:623:9:601:18030:281 0/1:-369.521,0,-497.414:462:243:209:6077:7481 0/1:-370.941,0,-399.327:375:186:189:5633:6078 . . 0/1:-518.373,0,-683.335:599:318:275:8050:10041 . 0/1:-550.534,0,-686.408:615:323:288:8549:10249 0/1:-562.935,0,-688.161:615:317:289:8631:10099 . 0/1:-526.932,0,-730.082:636:353:278:8479:11009 0/1:-557.056,0,-495.546:546:253:286:8381:7730 . . 0/1:-381.158,0,-562.482:486:263:220:6116:8245 1/1:-1415.09,-159.122,0:567:5:559:16546:119 . 0/1:-863.332,0,-725.996:793:352:430:12848:11078 . . . . 0/1:-600.526,0,-721.11:660:332:314:9372:10651 . . . 0/1:-561.053,0,-536.533:560:271:287:8440:8300 . 0/1:-454.448,0,-397.796:423:194:225:6728:5987 1/1:-1396.27,-146.938,0:598:12:575:16656:345 . 0/1:-494.594,0,-420.992:463:203:252:7372:6532 0/1:-485.923,0,-463.83:489:234:249:7434:7274 . 1/1:-1719.37,-181.562,0:720:12:691:20380:352 . . . 0/1:-707.133,0,-536.46:630:271:350:10433:8518 0/1:-393.344,0,-360.804:408:184:220:6181:5647 . . 1/1:-1311.57,-130.177,0:568:14:539:15839:423 0/1:-490.95,0,-590.685:564:288:267:7791:8975 . 0/1:-630.863,0,-818.027:722:385:324:9753:12120 0/1:-394.328,0,-392.977:448:214:228:6256:6202 . 0/1:-755.268,0,-565.769:680:291:372:11118:8927 . . . 0/1:-302.1,0,-514.279:411:235:166:4938:7393 0/1:-618.042,0,-551.104:589:271:311:9335:8523 . 0/1:-578.537,0,-738.573:652:339:304:9044:10831 . 1/1:-1205.98,-106.827,0:520:17:493:14670:547 . 0/1:-451.922,0,-478.981:459:222:227:6812:7208 . 0/1:-331.157,0,-332.529:344:167:175:5080:5051 . 0/1:-715.335,0,-785.448:748:374:362:10909:11762 . 0/1:-670.456,0,-659.736:668:322:331:9954:10080 . . . 0/1:-403.777,0,-419.421:388:190:196:6069:6107:190,196 . 0/1:-575.431,0,-567.357:520:253:261:8414:8290:253,261 0/1:-240.65,0,-241.355:227:112:112:3515:3642:112,112 . . 0/1:-469.872,0,-521.472:471:240:223:7106:7548:240,223 0/1:-405.132,0,-521.307:443:232:206:6178:7589:232,206 . 0/1:-423.959,0,-450.388:412:204:203:6326:6678:204,203 0/1:-437.57,0,-517.641:440:225:208:6554:7464:225,208 . . . 0/1:-386.822,0,-406.663:376:186:186:5770:6040:186,186 1/1:-1350.21,-134.714,0:503:6:493:15762:193:6,493 . . 0/1:-411.156,0,-460.402:395:201:187:6051:6639:201,187 . chr1 237947000 . C T 6297.00 . AB=0.507402;ABP=3.36393;AC=14;AF=0.5;AN=28;AO=377;CIGAR=1X;DP=8995;DPB=743;DPRA=0;EPP=59.4628;EPPR=25.0931;GTI=0;LEN=1;MEANALT=3;MQM=39.8143;MQMR=39.5734;NS=1;NUMALT=1;ODDS=1550.35;PAIRED=0.973475;PAIREDR=0.980226;PAO=0;PQA=0;PQR=0;PRO=0;QA=11292;QR=10814;RO=354;RPL=217;RPP=21.7241;RPPR=13.8309;RPR=160;RUN=1;SAF=246;SAP=79.1846;SAR=131;SF=0,1;SRF=255;SRP=152.29;SRR=99;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon90:c.C11988T:p.G3996G;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0173;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0173;1000g2015aug_all=0.0123802;avsnp147=rs56226196;Kaviar_AF=0.0119403;Kaviar_AC=1846;Kaviar_AN=154602;ExAC_ALL=0.0139;ExAC_AFR=0.0100;ExAC_AMR=0.0095;ExAC_EAS=0.0001;ExAC_FIN=0.0045;ExAC_NFE=0.0170;ExAC_OTH=0.0122;ExAC_SAS=0.0187;CLNALLELEID=52886;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0105;dpsi_zscore=-0.041;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0117;gnomAD_exome_AFR=0.0089;gnomAD_exome_AMR=0.0092;gnomAD_exome_ASJ=0.0043;gnomAD_exome_EAS=5.875e-05;gnomAD_exome_FIN=0.0030;gnomAD_exome_NFE=0.0154;gnomAD_exome_OTH=0.0141;gnomAD_exome_SAS=0.0169;gnomAD_genome_ALL=0.0102;gnomAD_genome_AFR=0.0093;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0130;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-753.058,0,-699.816:743:354:377:11292:10814 0/1:-595.422,0,-681.64:645:328:304:9295:10151 0/1:-697.357,0,-747.001:726:360:361:10690:11162 . . . . 0/1:-606.462,0,-645.666:616:315:290:9164:9659 . . . 0/1:-515.194,0,-636.794:582:305:260:7946:9485 . . . 0/1:-479.455,0,-468.421:467:223:234:7223:7130 . . 0/1:-818.93,0,-637.921:744:335:396:12132:10155 . . . . 0/1:-570.452,0,-466.264:555:248:285:8540:7497 0/1:-454.954,0,-465.42:467:231:226:6958:7113 . . . . . . . 0/1:-848.286,0,-783.834:825:389:428:12905:12181 . . . . . . . . . . . . 0/1:-689.606,0,-679.959:696:337:346:10521:10309 . . . . . . . . 0/1:-538.788,0,-634.223:602:307:278:8400:9584 . . . . . . . 0/1:-716.767,0,-619.072:675:317:347:10775:9671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-711.698,0,-680.125:652:320:324:10461:10172:320,324 . . . . . . . . . . . . . . chr1 237947244 . C A 5021.64 . AB=0.49577;ABP=3.10216;AC=1;AF=0.5;AN=2;AO=293;CIGAR=1X;DP=591;DPB=591;DPRA=0;EPP=4.26279;EPPR=13.1562;GTI=0;LEN=1;MEANALT=3;MQM=37.1672;MQMR=36.9659;NS=1;NUMALT=1;ODDS=1156.28;PAIRED=0.935154;PAIREDR=0.969283;PAO=0;PQA=0;PQR=0;PRO=0;QA=8202;QR=8607;RO=293;RPL=144;RPP=3.19558;RPPR=40.37;RPR=149;RUN=1;SAF=164;SAP=12.089;SAR=129;SF=0;SRF=166;SRP=14.2827;SRR=127;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon90:c.C12232A:p.L4078I;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747750895;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.568e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.639e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.847;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.519;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.860;MutationTaster_pred=N;MutationAssessor_score=-1.085;MutationAssessor_pred=N;FATHMM_score=-1.21;FATHMM_pred=T;PROVEAN_score=-0.11;PROVEAN_pred=N;VEST3_score=0.401;CADD_raw=-0.415;CADD_phred=0.356;DANN_score=0.269;fathmm-MKL_coding_score=0.696;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.697;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.75;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.311;phastCons20way_mammalian=0.499;SiPhy_29way_logOdds=9.427;GDI_full_10282015=.;dpsi_max_tissue=0.0111;dpsi_zscore=0.076;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.638e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.625e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-510.391,0,-529.706:591:293:293:8202:8607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237947781 . C T 3510.47 . AB=0.423459;ABP=28.606;AC=1;AF=0.5;AN=2;AO=213;CIGAR=1X;DP=503;DPB=503;DPRA=0;EPP=31.6472;EPPR=55.9124;GTI=0;LEN=1;MEANALT=3;MQM=36.0282;MQMR=36.0942;NS=1;NUMALT=1;ODDS=808.316;PAIRED=0.924883;PAIREDR=0.938406;PAO=0;PQA=0;PQR=0;PRO=0;QA=6392;QR=8776;RO=276;RPL=81;RPP=29.5267;RPPR=22.6794;RPR=132;RUN=1;SAF=122;SAP=12.8074;SAR=91;SF=0;SRF=144;SRP=4.14324;SRR=132;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=RYR2:NM_001035:exon90:c.C12769T:p.R4257X;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs376974288;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.695e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.074e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.011;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=12.220;CADD_phred=38;DANN_score=0.985;fathmm-MKL_coding_score=0.896;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=0.669;phyloP7way_vertebrate=-0.662;phyloP20way_mammalian=-0.405;phastCons7way_vertebrate=0.942;phastCons20way_mammalian=0.023;SiPhy_29way_logOdds=15.892;GDI_full_10282015=.;dpsi_max_tissue=-32.3544;dpsi_zscore=-3.376;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.096e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.073e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-366.566,0,-549.629:503:276:213:6392:8776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237948286 . A G 6569.73 . AB=0.484211;ABP=5.2732;AC=8;AF=0.5;AN=16;AO=506;CIGAR=1X;DP=5999;DPB=1045;DPRA=0;EPP=22.854;EPPR=39.1973;GTI=0;LEN=1;MEANALT=3;MQM=38.4506;MQMR=39.8285;NS=1;NUMALT=1;ODDS=2131.4;PAIRED=0.950593;PAIREDR=0.963391;PAO=0;PQA=0;PQR=0;PRO=0;QA=14826;QR=16216;RO=519;RPL=267;RPP=6.37479;RPPR=5.22361;RPR=239;RUN=1;SAF=240;SAP=5.91132;SAR=266;SF=0,1;SRF=236;SRP=12.2527;SRR=283;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0069;esp6500siv2_ea=0.0092;esp6500siv2_all=0.0069;esp6500siv2_ea=0.0092;1000g2015aug_all=0.0107827;avsnp147=rs141528541;Kaviar_AF=0.0069598;Kaviar_AC=1076;Kaviar_AN=154602;ExAC_ALL=0.0146;ExAC_AFR=0.0013;ExAC_AMR=0.0141;ExAC_EAS=0;ExAC_FIN=0.0068;ExAC_NFE=0.0147;ExAC_OTH=0.0261;ExAC_SAS=0.0209;CLNALLELEID=45393;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=0.618;CADD_phred=8.280;DANN_score=0.629;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.054;integrated_confidence_value=0;GERP++_RS=-0.521;phyloP7way_vertebrate=1.003;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=0.271;phastCons20way_mammalian=0.178;SiPhy_29way_logOdds=5.854;GDI_full_10282015=.;dpsi_max_tissue=0.0729;dpsi_zscore=0.392;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0093;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0057;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0107;gnomAD_exome_OTH=0.0119;gnomAD_exome_SAS=0.0210;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0080;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-936.259,0,-1071.48:1045:519:506:14826:16216 . . . . . . 0/1:-646.418,0,-706.409:693:340:340:10230:10726 . . . 0/1:-502.377,0,-507.44:558:273:269:8029:8331 . . . 0/1:-513.167,0,-513.869:536:259:272:8102:8117 . . . . . . . 0/1:-494.066,0,-663.677:631:339:282:8162:10083 . . . . . . . . 0/1:-587.556,0,-976.899:824:459:343:9946:14348 . . . . . . . . . . . . . . . . . . . . . 0/1:-665.297,0,-883.381:800:428:359:10731:13454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-900.046,0,-1020.99:912:473:429:13592:15124:473,429 . . . . . . . . . . . . . . chr1 237951451 . A G 12236.73 . AB=0.514245;ABP=4.24761;AC=122;AF=0.5;AN=178;AO=361;CIGAR=1X;DP=71209;DPB=702;DPRA=0;EPP=6.76977;EPPR=8.13811;GTI=0;LEN=1;MEANALT=3;MQM=38.7368;MQMR=39.9458;NS=1;NUMALT=1;ODDS=1522.27;PAIRED=0.975069;PAIREDR=0.966867;PAO=0;PQA=0;PQR=0;PRO=0;QA=11128;QR=10603;RO=332;RPL=248;RPP=112.637;RPPR=224.448;RPR=113;RUN=1;SAF=120;SAP=91.0782;SAR=241;SF=0,1;SRF=116;SRP=68.4161;SRR=216;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.6176;esp6500siv2_ea=0.5443;esp6500siv2_all=0.6176;esp6500siv2_ea=0.5443;1000g2015aug_all=0.636581;avsnp147=rs2256242;Kaviar_AF=0.549178;Kaviar_AC=84904;Kaviar_AN=154602;ExAC_ALL=0.5750;ExAC_AFR=0.7756;ExAC_AMR=0.4468;ExAC_EAS=0.6762;ExAC_FIN=0.5189;ExAC_NFE=0.5490;ExAC_OTH=0.6012;ExAC_SAS=0.6129;CLNALLELEID=99381;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5306;dpsi_zscore=1.162;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5568;gnomAD_exome_AFR=0.7715;gnomAD_exome_AMR=0.4487;gnomAD_exome_ASJ=0.6154;gnomAD_exome_EAS=0.6697;gnomAD_exome_FIN=0.5157;gnomAD_exome_NFE=0.5343;gnomAD_exome_OTH=0.5459;gnomAD_exome_SAS=0.6003;gnomAD_genome_ALL=0.6090;gnomAD_genome_AFR=0.7662;gnomAD_genome_AMR=0.4749;gnomAD_genome_ASJ=0.6258;gnomAD_genome_EAS=0.6894;gnomAD_genome_FIN=0.5272;gnomAD_genome_NFE=0.5375;gnomAD_genome_OTH=0.5723;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-731.684,0,-698.774:702:332:361:11128:10603 0/1:-1020,0,-1104.1:1033:518:503:15517:16410 0/1:-852.383,0,-1021.17:912:474:430:13311:15240 0/1:-610.229,0,-511.956:560:251:298:8967:7968 0/1:-752.494,0,-948.948:840:436:386:11884:14030 0/1:-868.839,0,-1107.49:967:522:429:13478:16371 . 0/1:-904.327,0,-877.976:873:422:441:13576:13172 1/1:-1639.73,-157.926,0:663:14:635:19729:425 0/1:-927.3,0,-1109.73:1007:520:470:14230:16349 1/1:-2145.17,-237.571,0:855:7:831:25331:173 0/1:-840.634,0,-757.003:795:363:424:12816:11632 . 0/1:-559.483,0,-779.416:697:379:309:8970:11856 1/1:-1722.02,-178.923,0:677:9:661:20430:267 1/1:-3056.06,-338.982,0:1199:7:1160:36074:164 0/1:-649.882,0,-726.066:707:357:334:10150:10992 . 0/1:-774.275,0,-925.931:815:420:383:11997:13663 . 0/1:-676.218,0,-690.733:685:327:340:10332:10450 0/1:-911.285,0,-1159.12:996:534:452:13978:17033 . . 1/1:-2338.95,-257.776,0:932:9:903:27551:201 1/1:-1428.98,-156.633,0:583:8:563:17037:183 0/1:-732.036,0,-766.262:754:376:367:11262:11735 1/1:-2440.85,-250.412,0:959:12:931:28629:380 0/1:-584.42,0,-638.614:616:307:305:9042:9611 0/1:-765.505,0,-587.78:654:293:354:11286:9047 . 1/1:-2763.6,-286.263,0:1089:14:1054:32739:403 1/1:-2371,-244.793,0:951:14:922:28404:426 0/1:-553.706,0,-490.821:522:248:268:8320:7605 0/1:-980.657,0,-973.448:968:468:485:14620:14852 1/1:-2753.43,-309.134,0:1090:6:1068:32431:160 . . 1/1:-1901.62,-199.463,0:781:11:756:22855:357 0/1:-448.35,0,-520.567:494:248:233:6938:7845 0/1:-972.993,0,-1183.28:1054:553:484:14990:17627 1/1:-1828.87,-202.025,0:715:4:693:21395:87 1/1:-2098.44,-225.53,0:842:8:813:24805:258 0/1:-900.417,0,-925.214:899:438:444:13756:13966 . . 0/1:-727.953,0,-805.463:787:389:383:11380:12267 . 1/1:-1761.75,-181.123,0:709:10:683:20997:312 0/1:-1139.61,0,-929.715:1014:463:542:16861:14419 . . 0/1:-1058.58,0,-1186.27:1088:552:524:16100:17594 0/1:-923.427,0,-862.709:889:427:453:13948:13338 . 0/1:-610.738,0,-684.959:643:324:310:9445:10258 1/1:-2275.38,-243.152,0:893:12:868:26994:265 0/1:-437.126,0,-470.813:464:232:224:6828:7192 0/1:-561.268,0,-591.811:568:276:279:8586:8811 0/1:-707.948,0,-769.632:732:362:357:10844:11445 1/1:-1370.47,-153.057,0:567:6:543:16295:146 1/1:-2867.29,-297.967,0:1149:17:1110:33879:503 1/1:-1854.58,-206.383,0:711:3:695:21791:42 0/1:-577.367,0,-619.153:616:302:294:9038:9571 . 1/1:-2191.52,-235.529,0:882:11:853:26244:295 1/1:-1224,-146.301,0:493:0:486:14736:0 . . 1/1:-2178.01,-228.072,0:860:10:831:25664:325 1/1:-2011.88,-210.169,0:825:15:790:24130:371 0/1:-973.854,0,-1105.8:1015:510:493:14878:16304 0/1:-1112.2,0,-1082.15:1085:527:544:16829:16424 0/1:-556.65,0,-552.399:592:287:292:8586:8621 0/1:-768.765,0,-869.261:786:405:374:11714:12931 0/1:-995.099,0,-958.459:976:474:482:14944:14749 1/1:-1984.26,-220.728,0:800:6:772:23426:164 . . 0/1:-557.346,0,-653.968:613:318:283:8777:9857 0/1:-994.44,0,-832.543:910:421:482:14910:12906 . 0/1:-1048.6,0,-988.464:1010:479:506:15755:15011 1/1:-2170.03,-243.173,0:851:3:830:25457:86 1/1:-2069.81,-242.812,0:830:2:816:24373:72 . 1/1:-1655.07,-186.123,0:642:2:631:19387:50 0/1:-1010.48,0,-858.58:923:423:487:15307:13382 1/1:-1280.22,-145.986,0:518:2:504:15055:72 . 1/1:-2757.18,-261.453,0:1146:32:1085:33434:918 . 0/1:-874.568,0,-1001.42:907:471:422:13353:14860 0/1:-653.396,0,-959.488:788:430:348:10390:13868 0/1:-990.83,0,-907.402:938:443:483:14814:13934 . 0/1:-803.431,0,-727.908:712:341:363:11646:10812:341,363 0/1:-879.064,0,-755.241:780:360:408:12942:11378:360,408 0/1:-890.397,0,-979.239:874:441:416:13269:14266:441,416 1/1:-1074.91,-112.06,0:419:5:406:12548:132:5,406 0/1:-827.652,0,-694.37:720:326:388:12143:10422:326,388 . 0/1:-812.131,0,-705.513:712:328:378:12030:10561:328,378 1/1:-2114.21,-206.95,0:797:10:775:24728:334:10,775 . 0/1:-732.84,0,-760.21:703:350:344:10940:11187:350,344 0/1:-817.128,0,-878.09:802:408:387:12269:12931:408,387 0/1:-710.916,0,-701.507:645:315:325:10462:10386:315,325 0/1:-776.928,0,-691.473:683:314:364:11462:10309:314,364 0/1:-604.194,0,-746.776:649:337:303:9273:10858:337,303 1/1:-2106.13,-214.792,0:800:9:778:24735:250:9,778 1/1:-1935.12,-201.914,0:728:7:711:22610:160:7,711 1/1:-2393.02,-251.058,0:917:8:891:28023:221:8,891 0/1:-804.791,0,-848.135:763:378:376:11818:12396:378,376 0/1:-833.461,0,-726.101:741:348:386:12130:10975:348,386 0/1:-764.253,0,-637.713:658:303:349:11098:9855:303,349 chr1 237957146 . G A 11351.06 . AB=0.509859;ABP=3.60975;AC=143;AF=0.5;AN=194;AO=362;CIGAR=1X;DP=69357;DPB=710;DPRA=0;EPP=219.558;EPPR=213.656;GTI=0;LEN=1;MEANALT=3;MQM=39.4448;MQMR=39.512;NS=1;NUMALT=1;ODDS=1347.92;PAIRED=0.994475;PAIREDR=0.988024;PAO=0;PQA=0;PQR=0;PRO=0;QA=10239;QR=9700;RO=334;RPL=120;RPP=92.2926;RPPR=40.5625;RPR=242;RUN=1;SAF=192;SAP=5.91359;SAR=170;SF=0,1;SRF=188;SRP=14.4788;SRR=146;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.6242;esp6500siv2_ea=0.6579;esp6500siv2_all=0.6242;esp6500siv2_ea=0.6579;1000g2015aug_all=0.734026;avsnp147=rs790902;Kaviar_AF=0.676544;Kaviar_AC=104595;Kaviar_AN=154602;ExAC_ALL=0.7134;ExAC_AFR=0.5567;ExAC_AMR=0.8266;ExAC_EAS=0.9371;ExAC_FIN=0.6880;ExAC_NFE=0.6639;ExAC_OTH=0.7035;ExAC_SAS=0.8241;CLNALLELEID=249836;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1618;dpsi_zscore=-0.607;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7112;gnomAD_exome_AFR=0.5425;gnomAD_exome_AMR=0.8138;gnomAD_exome_ASJ=0.6171;gnomAD_exome_EAS=0.9422;gnomAD_exome_FIN=0.6813;gnomAD_exome_NFE=0.6539;gnomAD_exome_OTH=0.6830;gnomAD_exome_SAS=0.8223;gnomAD_genome_ALL=0.6573;gnomAD_genome_AFR=0.5506;gnomAD_genome_AMR=0.7995;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.9561;gnomAD_genome_FIN=0.6647;gnomAD_genome_NFE=0.6755;gnomAD_genome_OTH=0.6906;Whole_Blood=Whole_Blood::0.353825::0.254469;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-667.62,0,-619.612:710:334:362:10239:9700 1/1:-2063.44,-244.726,0:841:2:831:23998:68 . 1/1:-1151.33,-140.711,0:475:1:473:13315:27 0/1:-765.996,0,-682.864:782:356:412:11643:10617 0/1:-817.294,0,-634.83:787:349:422:12221:9921 . 0/1:-817.014,0,-599.396:765:325:421:12190:9420 1/1:-1456.42,-177.918,0:615:3:611:17056:77 0/1:-704.102,0,-833.439:834:431:382:11048:12379 1/1:-1551.5,-189.708,0:650:2:643:18303:50 . 0/1:-580.88,0,-603.464:644:314:314:8994:9181 1/1:-1540.13,-180.137,0:654:5:639:18295:154 1/1:-1557.79,-177.967,0:648:5:634:18192:172 1/1:-2386.59,-285.434,0:979:3:965:27708:67 1/1:-1455.93,-174.532,0:646:7:622:17345:180 1/1:-2982.19,-343.397,0:1224:11:1203:34897:306 . . 1/1:-1370.56,-165.933,0:571:2:564:15998:50 0/1:-858.984,0,-795.838:900:424:453:13089:12271 0/1:-398.901,0,-531.135:504:271:220:6361:7826 1/1:-1799.27,-207.048,0:775:11:748:21405:241 0/1:-737.485,0,-831.217:842:432:384:11400:12458 0/1:-551.56,0,-501.995:593:273:303:8487:7982 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0/1:-744.023,0,-667.474:790:360:415:11500:10418 . . . 0/1:-621.995,0,-664.085:686:340:331:9640:10014 1/1:-1309.34,-146.335,0:559:8:545:15568:253 0/1:-519.941,0,-554.33:570:286:277:8046:8345 1/1:-1708.63,-201.988,0:713:5:705:19984:159 1/1:-978.157,-104.97,0:432:9:415:11735:256 1/1:-1398.52,-161.296,0:600:7:584:16515:187 1/1:-1443.84,-175.694,0:592:1:585:16964:27 . 0/1:-783.964,0,-759.353:838:397:422:11935:11598 0/1:-529.572,0,-563.616:606:294:292:8209:8493 1/1:-1338.53,-160.493,0:580:5:566:15730:128 0/1:-869.136,0,-932.316:958:473:468:13478:13904 0/1:-665.961,0,-789.922:798:403:379:10486:11839 1/1:-1082.34,-130.059,0:477:5:466:12827:132 0/1:-605.208,0,-734.641:749:386:339:9765:11136 1/1:-1386.63,-158.733,0:573:4:563:16116:135 1/1:-1795.89,-220.091,0:763:3:749:21002:89 1/1:-1748.39,-197.231,0:732:8:717:20575:238 1/1:-2287.47,-274.219,0:928:1:918:26829:27 1/1:-2184.3,-253.165,0:923:10:902:25734:240 1/1:-1034.43,-143.082,0:508:5:496:12509:117 0/1:-745.335,0,-568.999:700:309:378:11014:8893 1/1:-1936.3,-234.652,0:820:3:801:22715:91 0/1:-600.388,0,-753.001:737:384:336:9601:11160 1/1:-2006.74,-231.152,0:828:6:817:23452:192 . 0/1:-412.655,0,-382.481:442:200:221:6393:5836 1/1:-1968.13,-221.718,0:795:5:783:23000:176 0/1:-786.455,0,-648.771:783:347:420:11937:10141 . 0/1:-700.396,0,-592.736:695:311:368:10643:9201 0/1:-605.613,0,-596.777:644:304:325:9498:9021 . 0/1:-637.487,0,-592.386:655:304:333:9651:8988 1/1:-1847.75,-204.913,0:777:10:760:21934:306 0/1:-380.44,0,-435.483:455:231:218:6051:6585 . 1/1:-2409.27,-233.993,0:1052:33:1003:28960:939 0/1:-561.04,0,-605.661:630:309:303:8744:9176 0/1:-806.869,0,-793.166:867:410:440:12336:12125 . . . 1/1:-1792.34,-195.25,0:683:4:674:20839:100:4,674 1/1:-2212,-230.198,0:836:8:825:26020:232:8,825 1/1:-2331.55,-245.161,0:874:5:861:27201:176:5,861 0/1:-427.777,0,-380.236:398:185:208:6327:5707:185,208 . 0/1:-981.609,0,-876.782:901:420:474:14655:13155:420,474 1/1:-1851.73,-196.17,0:689:4:680:21465:109:4,680 1/1:-2064.17,-219.971,0:784:5:775:24127:167:5,775 1/1:-2053.97,-228.801,0:772:2:767:23797:54:2,767 1/1:-1704.38,-181.989,0:640:4:633:19757:109:4,633 1/1:-2240.96,-243.666,0:827:1:819:25921:36:1,819 0/1:-681.189,0,-542.345:587:265:312:9896:8237:265,312 0/1:-696.472,0,-736.737:691:350:331:10391:10856:350,331 1/1:-1737.53,-190.198,0:666:4:657:20454:100:4,657 1/1:-2138.13,-229.399,0:816:7:803:24987:162:7,803 0/1:-854.494,0,-662.109:748:328:409:12470:10168:328,409 0/1:-903.37,0,-773.258:811:374:423:13341:11617:374,423 0/1:-628.758,0,-820.304:703:387:307:9682:11989:387,307 1/1:-2180.38,-232.875,0:817:5:810:25423:140:5,810 0/1:-687.89,0,-628.935:647:305:329:10177:9499:305,329 chr1 237957161 . A G 14501.18 . AB=0.493799;ABP=3.30652;AC=146;AF=0.5;AN=196;AO=438;CIGAR=1X;DP=89521;DPB=887;DPRA=0;EPP=160.09;EPPR=122.22;GTI=0;LEN=1;MEANALT=3;MQM=39.5297;MQMR=39.6505;NS=1;NUMALT=1;ODDS=1678.51;PAIRED=0.993151;PAIREDR=0.979167;PAO=0;PQA=0;PQR=0;PRO=0;QA=12165;QR=11960;RO=432;RPL=123;RPP=185.771;RPPR=82.8119;RPR=315;RUN=1;SAF=209;SAP=4.99338;SAR=229;SF=0,1;SRF=222;SRP=3.73412;SRR=210;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.6514;esp6500siv2_ea=0.6785;esp6500siv2_all=0.6514;esp6500siv2_ea=0.6785;1000g2015aug_all=0.757588;avsnp147=rs790901;Kaviar_AF=0.0035252;Kaviar_AC=545;Kaviar_AN=154602;ExAC_ALL=0.7399;ExAC_AFR=0.5959;ExAC_AMR=0.8436;ExAC_EAS=0.9441;ExAC_FIN=0.7158;ExAC_NFE=0.6873;ExAC_OTH=0.7238;ExAC_SAS=0.8658;CLNALLELEID=52900;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0971;dpsi_zscore=-0.440;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7376;gnomAD_exome_AFR=0.5866;gnomAD_exome_AMR=0.8267;gnomAD_exome_ASJ=0.6537;gnomAD_exome_EAS=0.9471;gnomAD_exome_FIN=0.7089;gnomAD_exome_NFE=0.6791;gnomAD_exome_OTH=0.7018;gnomAD_exome_SAS=0.8621;gnomAD_genome_ALL=0.6830;gnomAD_genome_AFR=0.5929;gnomAD_genome_AMR=0.8091;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.9580;gnomAD_genome_FIN=0.6922;gnomAD_genome_NFE=0.6941;gnomAD_genome_OTH=0.7182;Whole_Blood=Whole_Blood::0.335598::0.271589;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-788.686,0,-756.402:887:432:438:12165:11960 1/1:-2606.03,-306.884,0:1083:6:1054:30220:137 . 1/1:-1490.12,-179.676,0:614:1:598:17167:14 0/1:-1045.23,0,-769.909:1026:444:559:15670:12557 0/1:-1006.01,0,-796.837:986:435:534:15121:12512 . 0/1:-966.302,0,-758.324:935:409:513:14450:11971 1/1:-1796.1,-216.156,0:797:8:759:20991:172 0/1:-856.093,0,-942.259:1017:522:476:13426:14314 1/1:-2039.53,-251.872,0:883:4:855:23826:94 . 0/1:-702.247,0,-734.24:798:388:389:10844:11177 1/1:-1865.4,-229.218,0:831:7:798:22059:147 1/1:-1992.07,-229.711,0:855:9:822:23291:264 1/1:-3102.1,-377.588,0:1322:3:1273:35939:73 1/1:-1712.04,-204.464,0:785:9:750:20604:271 1/1:-3759.03,-442.109,0:1584:13:1536:43906:292 . . 1/1:-1746.24,-213.535,0:738:2:721:20256:46 0/1:-1089.66,0,-918.718:1126:511:580:16522:14589 0/1:-514.821,0,-613.513:640:335:292:8190:9345 1/1:-2321.03,-268.267,0:1034:15:986:27529:389 0/1:-927.106,0,-1026.15:1063:535:510:14378:15551 0/1:-626.883,0,-635.502:718:343:356:9816:10052 1/1:-2008.03,-229.23,0:882:12:849:23660:340 1/1:-2687.17,-310.749,0:1136:10:1104:31290:299 1/1:-1668.12,-200.137,0:733:6:704:19723:159 0/1:-587.279,0,-620.673:649:312:325:9040:9286 1/1:-2013.82,-231.834,0:887:12:843:23622:304 . 0/1:-999.456,0,-923.99:1082:512:541:15137:14286 0/1:-585.864,0,-592.519:643:316:314:8946:9123 0/1:-980.288,0,-945.765:1061:504:530:14866:14564 0/1:-1076.67,0,-832.312:1082:474:579:16090:13187 1/1:-1676.02,-188.501,0:723:10:691:19776:280 0/1:-960.238,0,-978.094:1074:526:527:14770:14969 0/1:-765.871,0,-950.759:984:513:448:12280:14390 0/1:-500.736,0,-429.995:510:228:274:7517:6713 0/1:-990.359,0,-1022.88:1117:550:546:15305:15546 . 0/1:-730.149,0,-902.314:918:467:426:11629:13439 0/1:-969.987,0,-721.488:932:403:511:14288:11500 1/1:-2961.38,-353.97,0:1271:9:1230:34620:219 0/1:-903.395,0,-801.082:941:443:483:13754:12599 0/1:-719.953,0,-798.902:853:423:410:11385:12135 0/1:-400.496,0,-414.461:460:223:230:6278:6342 0/1:-915.335,0,-563.968:807:329:464:13355:9340 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1/1:-1361.28,-179.789,0:655:9:629:16417:175 0/1:-889.479,0,-659.805:862:360:477:13192:10519 1/1:-2440.78,-296.084,0:1040:5:1013:28555:150 0/1:-760.968,0,-823.632:886:445:419:11895:12627 1/1:-2534.34,-296.317,0:1059:7:1029:29474:187 . 0/1:-569.011,0,-486.296:611:265:322:8727:7673 1/1:-2375.2,-282.599,0:1026:8:991:27678:205 0/1:-937.683,0,-780.186:969:428:519:14291:12282 . 0/1:-862.152,0,-710.358:874:389:469:13061:11193 0/1:-714.954,0,-751.491:806:391:392:11258:11358 . 0/1:-733.676,0,-684.893:776:362:399:11189:10550 1/1:-2273.84,-265.282,0:985:11:947:26775:260 0/1:-493.839,0,-551.281:585:293:282:7775:8341 . 1/1:-3099.73,-320.546,0:1377:37:1305:36933:1008 0/1:-627.415,0,-666.571:736:360:359:9808:10279 0/1:-996.581,0,-951.435:1079:514:546:15203:14657 . . . 1/1:-2432.82,-263.855,0:940:7:922:28232:178:7,922 1/1:-2750.74,-290.219,0:1070:9:1044:32082:303:9,1044 1/1:-2898.44,-317.678,0:1128:6:1106:33436:194:6,1106 0/1:-566.867,0,-484.767:519:237:276:8393:7346:237,276 . 0/1:-1156.22,0,-1053.15:1098:515:567:17191:15886:515,567 1/1:-2352.53,-256.169,0:908:4:889:27131:144:4,889 1/1:-2509.89,-273.64,0:1009:9:972:29287:245:9,972 1/1:-2644.94,-297.92,0:1016:2:999:30598:50:2,999 1/1:-2262.85,-233.272,0:877:10:856:26315:309:10,856 1/1:-2802.15,-309.729,0:1076:3:1049:32347:78:3,1049 0/1:-853.867,0,-626.113:753:323:414:12403:9817:323,414 0/1:-842.761,0,-896.273:874:441:419:12709:13322:441,419 1/1:-2296.88,-256.195,0:899:4:880:26692:113:4,880 1/1:-2798.84,-315.461,0:1117:7:1088:32484:160:7,1088 0/1:-1105.83,0,-801.197:948:398:536:15995:12452:398,536 0/1:-1075.26,0,-869.652:978:436:526:15826:13315:436,526 1/1:-2397.37,-264.044,0:929:5:912:27783:136:5,912 1/1:-2785.77,-305.367,0:1069:6:1046:32177:128:6,1046 0/1:-903.3,0,-810.017:838:390:437:13307:12230:390,437 chr1 237957309 . A C 9831.84 . AB=0.45641;ABP=12.665;AC=137;AF=0.5;AN=188;AO=267;CIGAR=1X;DP=57101;DPB=585;DPRA=0;EPP=10.826;EPPR=94.7602;GTI=0;LEN=1;MEANALT=3;MQM=39.5693;MQMR=40.0863;NS=1;NUMALT=1;ODDS=1148.94;PAIRED=0.981273;PAIREDR=0.968051;PAO=0;PQA=0;PQR=0;PRO=0;QA=7937;QR=9733;RO=313;RPL=122;RPP=7.31258;RPPR=21.055;RPR=145;RUN=1;SAF=114;SAP=15.3804;SAR=153;SF=0,1;SRF=148;SRP=5.01527;SRR=165;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.6478;esp6500siv2_ea=0.6684;esp6500siv2_all=0.6478;esp6500siv2_ea=0.6684;1000g2015aug_all=0.750799;avsnp147=rs790900;Kaviar_AF=0.709325;Kaviar_AC=109663;Kaviar_AN=154602;ExAC_ALL=0.7273;ExAC_AFR=0.6015;ExAC_AMR=0.8362;ExAC_EAS=0.9444;ExAC_FIN=0.7098;ExAC_NFE=0.6717;ExAC_OTH=0.7081;ExAC_SAS=0.8434;CLNALLELEID=52901;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0684;dpsi_zscore=0.375;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7319;gnomAD_exome_AFR=0.5987;gnomAD_exome_AMR=0.8245;gnomAD_exome_ASJ=0.6529;gnomAD_exome_EAS=0.9468;gnomAD_exome_FIN=0.7076;gnomAD_exome_NFE=0.6715;gnomAD_exome_OTH=0.6948;gnomAD_exome_SAS=0.8460;gnomAD_genome_ALL=0.6803;gnomAD_genome_AFR=0.6020;gnomAD_genome_AMR=0.7995;gnomAD_genome_ASJ=0.6755;gnomAD_genome_EAS=0.9579;gnomAD_genome_FIN=0.6896;gnomAD_genome_NFE=0.6851;gnomAD_genome_OTH=0.7122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-508.934,0,-660.187:585:313:267:7937:9733 1/1:-1835.82,-179.747,0:772:30:735:22103:584 . 1/1:-962.811,-86.6438,0:414:19:388:11650:412 0/1:-574.258,0,-772.871:685:370:309:9192:11303 . . 0/1:-801.807,0,-610.7:695:304:389:11724:9520 1/1:-1099.85,-104.596,0:462:22:435:13192:419 0/1:-664.327,0,-724.781:689:351:334:10187:10734 1/1:-1492.5,-157.153,0:624:20:602:17892:355 . . 1/1:-1277.06,-126.107,0:549:22:525:15478:456 1/1:-1234.87,-96.0348,0:529:33:490:14926:714 1/1:-2033.64,-214.557,0:824:22:793:23891:368 0/1:-484.695,0,-537.643:522:272:246:7497:8194 1/1:-2604.42,-240.197,0:1062:44:1014:30983:923 . . 0/1:-513.081,0,-547.453:529:266:261:7779:8131 0/1:-746.007,0,-820.199:760:384:370:11297:12248 0/1:-467.743,0,-402.927:453:208:243:7004:6376 1/1:-1619.79,-147.171,0:694:32:656:19484:747 0/1:-638.116,0,-889.359:769:421:339:10064:12970 0/1:-502.076,0,-591.316:574:301:268:7824:8875 1/1:-1502.56,-149.708,0:630:23:597:17822:467 1/1:-1860.09,-182.202,0:787:31:749:22216:613 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0/1:-590.534,0,-673.678:644:336:304:9116:10195 1/1:-1674.68,-149.881,0:695:28:657:20323:693 . 0/1:-552.858,0,-409.372:483:209:268:8195:6434 1/1:-1501.6,-131.066,0:622:29:589:18052:702 0/1:-635.705,0,-747.535:684:357:320:9774:11103 . 0/1:-638.851,0,-667.264:655:324:329:9745:9981 0/1:-484.986,0,-474.502:496:243:250:7476:7164 . 0/1:-560.893,0,-602.434:580:295:278:8519:9153 1/1:-1661.72,-149.826,0:699:32:660:20051:725 0/1:-360.016,0,-401.275:387:197:188:5629:6065 . 1/1:-1913.6,-166.731,0:805:34:768:23154:874 0/1:-396.638,0,-464.189:441:230:207:6118:6940 0/1:-663.539,0,-703.442:685:346:333:10119:10602 . . . 1/1:-1379.51,-133.627,0:527:13:511:16197:271:13,511 1/1:-1603.41,-148.702,0:605:14:591:18912:385:14,591 1/1:-1807.73,-162.699,0:712:26:684:21380:602:26,684 0/1:-353.673,0,-307.377:322:152:170:5188:4675:152,170 . . 1/1:-1396.21,-128.425,0:555:19:534:16526:463:19,534 0/1:-560.757,0,-801.122:649:359:289:8811:11529:359,289 1/1:-1483.01,-146.579,0:566:12:551:17417:273:12,551 1/1:-1269.39,-121.575,0:499:15:481:14886:333:15,481 1/1:-1707.14,-164.791,0:656:18:633:20069:376:18,633 0/1:-579.325,0,-448.788:475:214:260:8329:6851:214,260 0/1:-594.923,0,-564.636:541:261:278:8690:8340:261,278 1/1:-1468.21,-146.052,0:556:13:541:17127:240:13,541 1/1:-1360.91,-115.716,0:550:21:523:16301:563:21,523 0/1:-762.294,0,-533.299:619:267:347:10915:8283:267,347 0/1:-690.161,0,-658.183:630:302:325:10177:9773:302,325 1/1:-1458.07,-156.965,0:535:2:533:16728:68:2,533 1/1:-1704.81,-157.387,0:662:18:642:20137:474:18,642 0/1:-560.753,0,-405.272:461:204:256:8176:6316:204,256 chr1 237965123 . A G 3385.36 . AB=0.446541;ABP=14.851;AC=1;AF=0.5;AN=2;AO=213;CIGAR=1X;DP=477;DPB=477;DPRA=0;EPP=14.1123;EPPR=35.3132;GTI=0;LEN=1;MEANALT=3;MQM=36.2958;MQMR=36.7066;NS=1;NUMALT=1;ODDS=779.508;PAIRED=0.929577;PAIREDR=0.896694;PAO=0;PQA=0;PQR=0;PRO=0;QA=6105;QR=6848;RO=242;RPL=79;RPP=33.8493;RPPR=39.7638;RPR=134;RUN=1;SAF=155;SAP=98.9323;SAR=58;SF=1;SRF=158;SRP=52.1466;SRR=84;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs575503084;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=9.039e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0012;ExAC_FIN=0;ExAC_NFE=1.633e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0097;dpsi_zscore=0.066;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.292e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0019;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.555e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0022;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-360.27,0,-420.337:477:242:213:6105:6848:242,213 . . . . . . . . . . . . . . . . chr1 237965131 . GCATTTTTTTTTTTTGTCATTG ACATTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTGTCATTG,GCATTTTTTTTTTTGTCATTG,TCATTTTTTTTTTTTGTCATTG 2893.13 . AB=0.415629;ABP=57.607;AC=44,29,2,1,0;AF=0.5;AN=136;AO=367;CIGAR=1X;DP=56395;DPB=883;DPRA=0;EPP=41.8305;EPPR=3.99096;GTI=0;LEN=1;MEANALT=3;MQM=26.5668;MQMR=33.5599;NS=1;NUMALT=1;ODDS=810.398;PAIRED=0.910082;PAIREDR=0.912442;PAO=0;PQA=0;PQR=0;PRO=0;QA=8938;QR=12410;RO=434;RPL=128;RPP=75.9114;RPPR=168.743;RPR=239;RUN=1;SAF=227;SAP=47.7947;SAR=140;SF=0,1;SRF=278;SRP=77.4808;SRR=156;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.3487;esp6500siv2_ea=0.4032;esp6500siv2_all=0.3487;esp6500siv2_ea=0.4032;1000g2015aug_all=0.405152;avsnp147=rs9428384;Kaviar_AF=0.392524;Kaviar_AC=60685;Kaviar_AN=154602;ExAC_ALL=0.4178;ExAC_AFR=0.2244;ExAC_AMR=0.3631;ExAC_EAS=0.6195;ExAC_FIN=0.4122;ExAC_NFE=0.4133;ExAC_OTH=0.4272;ExAC_SAS=0.4846;CLNALLELEID=249838;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0047;dpsi_zscore=0.033;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4119;gnomAD_exome_AFR=0.2145;gnomAD_exome_AMR=0.3549;gnomAD_exome_ASJ=0.4889;gnomAD_exome_EAS=0.6223;gnomAD_exome_FIN=0.3997;gnomAD_exome_NFE=0.4023;gnomAD_exome_OTH=0.4023;gnomAD_exome_SAS=0.4770;gnomAD_genome_ALL=0.3722;gnomAD_genome_AFR=0.2273;gnomAD_genome_AMR=0.3871;gnomAD_genome_ASJ=0.5;gnomAD_genome_EAS=0.6384;gnomAD_genome_FIN=0.3951;gnomAD_genome_NFE=0.4134;gnomAD_genome_OTH=0.4286;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764400413;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.1406;ExAC_AFR=0.1416;ExAC_AMR=0.1936;ExAC_EAS=0.0793;ExAC_FIN=0.1056;ExAC_NFE=0.1446;ExAC_OTH=0.1497;ExAC_SAS=0.1342;CLNALLELEID=52906;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1286;gnomAD_exome_AFR=0.1264;gnomAD_exome_AMR=0.1794;gnomAD_exome_ASJ=0.1168;gnomAD_exome_EAS=0.0727;gnomAD_exome_FIN=0.1075;gnomAD_exome_NFE=0.1302;gnomAD_exome_OTH=0.1415;gnomAD_exome_SAS=0.1176;gnomAD_genome_ALL=0.0058;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0205;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0277;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0139;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0419;dpsi_zscore=-0.227;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 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0/1:.,.,-997.189,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:1242:640:514,.,.,.,.:12137,.,.,.,.:17986 0/1:.,.,-655.891,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:817:412:340,.,.,.,.:7820,.,.,.,.:11345 0/1:.,.,-755.602,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:1046:493:489,.,.,.,.:12385,.,.,.,.:13525 . . . 0/2:-109.3,.,.,0,.,-253.351,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:738:137:.,105,.,.,.:.,2807,.,.,.:4232:137,105 . 0/2:-108.162,.,.,0,.,-284.244,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:815:159:.,110,.,.,.:.,2860,.,.,.:4883:159,110 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-888.02:456:414:.,.,.,.,28:.,.,.,.,488:11662:414,28 . . 2/3:-143.524,.,.,-109.949,.,-14.3308,-179.78,.,0,-92.5905,.,.,.,.,.,.,.,.,.,.,.:635:4:.,101,73,.,.:.,2602,1715,.,.:119:4,101,73 0/2:-102.447,.,.,0,.,-280.485,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:867:156:.,103,.,.,.:.,2829,.,.,.:4778:156,103 . 0/2:-43.6505,.,.,0,.,-276.391,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:689:150:.,80,.,.,.:.,1980,.,.,.:4581:150,80 0/2:-56.5736,.,.,0,.,-354.875,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:849:189:.,100,.,.,.:.,2391,.,.,.:5907:189,100 0/2:-54.9366,.,.,0,.,-276.285,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:652:140:.,78,.,.,.:.,1932,.,.,.:4334:140,78 0/2:-51.8378,.,.,0,.,-261.168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:698:135:.,78,.,.,.:.,1838,.,.,.:4135:135,78 0/3:-87.0026,.,.,.,.,.,0,.,.,-278.451,.,.,.,.,.,.,.,.,.,.,.:703:138:.,.,63,.,.:.,.,1365,.,.:4230:138,63 0/2:-58.9088,.,.,0,.,-274.261,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:817:160:.,96,.,.,.:.,2366,.,.,.:4868:160,96 0/2:-120.713,.,.,0,.,-290.07,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:716:149:.,84,.,.,.:.,1950,.,.,.:4559:149,84 0/4:-35.0144,.,.,.,.,.,.,.,.,.,0,.,.,.,-363.48,.,.,.,.,.,.:777:174:.,.,.,53,.:.,.,.,1445,.:5358:174,53 0/2:-47.2851,.,.,0,.,-270.817,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:722:153:.,76,.,.,.:.,1940,.,.,.:4644:153,76 0/2:-67.1987,.,.,0,.,-251.123,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:725:135:.,86,.,.,.:.,2210,.,.,.:4128:135,86 . chr1 237965133 . ATTTTTTTTTTTTGTCATTG ATTTTTTTTTTTTTGTCATTG,ATTTTTTTTTTTGTCATTG 571.59 . AB=0.213986;ABP=511.047;AC=20,6;AF=0.5;AN=52;AO=153;CIGAR=1M1I13M;DP=20347;DPB=759.5;DPRA=0;EPP=16.6494;EPPR=16.0391;GTI=0;LEN=1;MEANALT=61;MQM=26.4118;MQMR=33.4796;NS=1;NUMALT=1;ODDS=73.9912;PAIRED=0.960784;PAIREDR=0.884354;PAO=42.5;PQA=968.5;PQR=968.5;PRO=42.5;QA=2911;QR=8965;RO=294;RPL=45;RPP=59.3408;RPPR=105.852;RPR=108;RUN=1;SAF=76;SAP=3.02449;SAR=77;SF=0,1;SRF=134;SRP=8.00321;SRR=160;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.377995;avsnp147=rs35563566;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.3303;ExAC_AFR=0.2927;ExAC_AMR=0.2916;ExAC_EAS=0.4156;ExAC_FIN=0.3611;ExAC_NFE=0.3304;ExAC_OTH=0.3333;ExAC_SAS=0.3203;CLNALLELEID=52905;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3480;gnomAD_exome_AFR=0.3122;gnomAD_exome_AMR=0.3065;gnomAD_exome_ASJ=0.3684;gnomAD_exome_EAS=0.4322;gnomAD_exome_FIN=0.3744;gnomAD_exome_NFE=0.3480;gnomAD_exome_OTH=0.3334;gnomAD_exome_SAS=0.3394;gnomAD_genome_ALL=0.3729;gnomAD_genome_AFR=0.3072;gnomAD_genome_AMR=0.3436;gnomAD_genome_ASJ=0.4526;gnomAD_genome_EAS=0.5781;gnomAD_genome_FIN=0.4292;gnomAD_genome_NFE=0.3764;gnomAD_genome_OTH=0.4062;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764400413;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.1406;ExAC_AFR=0.1416;ExAC_AMR=0.1936;ExAC_EAS=0.0793;ExAC_FIN=0.1056;ExAC_NFE=0.1446;ExAC_OTH=0.1497;ExAC_SAS=0.1342;CLNALLELEID=52906;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1286;gnomAD_exome_AFR=0.1264;gnomAD_exome_AMR=0.1794;gnomAD_exome_ASJ=0.1168;gnomAD_exome_EAS=0.0727;gnomAD_exome_FIN=0.1075;gnomAD_exome_NFE=0.1302;gnomAD_exome_OTH=0.1415;gnomAD_exome_SAS=0.1176;gnomAD_genome_ALL=0.0058;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0205;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0277;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0139;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:.,.,-497.927,.,.,.:715:294:153,.:2911,.:8965 . . . . . . . 0/1:.,.,-375.403,.,.,.:699:232:173,.:3097,.:7052 . . . 0/1:.,.,-294.058,.,.,.:554:192:117,.:2349,.:5760 0/1:.,.,-529.756,.,.,.:971:333:234,.:4482,.:10213 . . . . . . 0/1:.,.,-336.854,.,.,.:707:221:148,.:2835,.:6739 . . . . . 0/1:.,.,-569.913,.,.,.:898:347:211,.:3833,.:10640 0/1:.,.,-661.779,.,.,.:1003:393:217,.:4120,.:11999 0/1:.,.,-386.037,.,.,.:704:236:165,.:3218,.:7151 . 0/1:.,.,-461.653,.,.,.:787:284:168,.:3352,.:8564 0/1:.,.,-292.766,.,.,.:489:177:108,.:2032,.:5379 . . 0/1:.,.,-465.869,.,.,.:776:284:165,.:3077,.:8691 . . . . . . . . . . 0/1:.,.,-603.831,.,.,.:974:360:214,.:4009,.:11087 . 0/1:.,.,-446.171,.,.,.:740:258:163,.:2803,.:8022 . . 0/1:.,.,-379.836,.,.,.:667:225:144,.:2826,.:6911 . . . . . . . . . . . 0/1:.,.,-460.708,.,.,.:742:270:150,.:3038,.:8299 . 0/1:.,.,-630.901,.,.,.:1030:370:221,.:4268,.:11389 . . . . . . 0/1:.,.,-277.356,.,.,.:549:189:127,.:2642,.:5591 0/1:.,.,-531.404,.,.,.:869:310:183,.:3421,.:9527 . . . . . 0/1:.,.,-465.763,.,.,.:757:299:161,.:2907,.:9035 . . . 0/1:.,.,-727.692,.,.,.:1146:436:245,.:4612,.:13288 . . . . . . 0/2:-140.975,.,.,0,.,-713.341:861:352:.,140:.,3830:10764:352,140 . 0/2:-23.1826,.,.,0,.,-308.64:404:168:.,64:.,1594:5095:168,64 0/2:-73.5687,.,.,0,.,-578.15:729:294:.,104:.,2692:8838:294,104 0/2:-69.7012,.,.,0,.,-854.8:974:417:.,132:.,3389:12894:417,132 . . 0/2:-95.0738,.,.,0,.,-693.619:805:334:.,139:.,3417:10300:334,139 . . . . . . . . . . 0/2:-51.0603,.,.,0,.,-692.907:797:347:.,113:.,2896:10653:347,113 chr1 237972189 . A G 8095.02 . AB=0.525727;ABP=8.14994;AC=6;AF=0.5;AN=12;AO=470;CIGAR=1X;DP=5259;DPB=894;DPRA=0;EPP=3.30599;EPPR=9.45111;GTI=0;LEN=1;MEANALT=3;MQM=37.8681;MQMR=39.2203;NS=1;NUMALT=1;ODDS=1878.94;PAIRED=0.9;PAIREDR=0.941889;PAO=0;PQA=0;PQR=0;PRO=0;QA=14333;QR=13027;RO=413;RPL=293;RPP=65.1791;RPPR=35.8242;RPR=177;RUN=1;SAF=276;SAP=34.0762;SAR=194;SF=0,1;SRF=242;SRP=29.5149;SRR=171;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0078;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0078;1000g2015aug_all=0.0091853;avsnp147=rs41267519;Kaviar_AF=0.0083699;Kaviar_AC=1294;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0005;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0.0057;ExAC_NFE=0.0087;ExAC_OTH=0.0111;ExAC_SAS=0.0239;CLNALLELEID=52909;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0916;dpsi_zscore=-0.423;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0084;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0051;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0090;gnomAD_exome_OTH=0.0113;gnomAD_exome_SAS=0.0226;gnomAD_genome_ALL=0.0054;gnomAD_genome_AFR=0.0020;gnomAD_genome_AMR=0.0132;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0060;gnomAD_genome_NFE=0.0074;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-929.701,0,-831.195:894:413:470:14333:13027 . . . . . . . 0/1:-646.277,0,-920.299:777:424:347:10460:13749 . . . . . 0/1:-923.743,0,-1211.64:1082:566:502:15079:18001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-883.67,0,-1301.98:1071:589:471:14346:19133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-831.205,0,-806.745:770:383:383:12224:12177:383,383 . 0/1:-650.468,0,-754.698:665:346:310:9832:11035:346,310 . . . . . . . . . . . . chr1 237991767 . T C 8044.16 . AB=0.469624;ABP=11.3214;AC=5;AF=0.5;AN=10;AO=487;CIGAR=1X;DP=4962;DPB=1037;DPRA=0;EPP=36.7595;EPPR=6.58409;GTI=0;LEN=1;MEANALT=3;MQM=38.0842;MQMR=37.9354;NS=1;NUMALT=1;ODDS=1843.74;PAIRED=0.960986;PAIREDR=0.937378;PAO=0;PQA=0;PQR=0;PRO=0;QA=13145;QR=15427;RO=511;RPL=240;RPP=3.22878;RPPR=22.0861;RPR=247;RUN=1;SAF=204;SAP=30.8381;SAR=283;SF=0,1;SRF=218;SRP=26.9135;SRR=293;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0052;esp6500siv2_ea=0.0072;esp6500siv2_all=0.0052;esp6500siv2_ea=0.0072;1000g2015aug_all=0.00938498;avsnp147=rs147311361;Kaviar_AF=0.0062418;Kaviar_AC=965;Kaviar_AN=154602;ExAC_ALL=0.0132;ExAC_AFR=0.0004;ExAC_AMR=0.0106;ExAC_EAS=0;ExAC_FIN=0.0088;ExAC_NFE=0.0111;ExAC_OTH=0.0106;ExAC_SAS=0.0237;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0563;dpsi_zscore=0.326;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0087;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0063;gnomAD_exome_ASJ=0.0029;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0049;gnomAD_exome_NFE=0.0091;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0218;gnomAD_genome_ALL=0.0058;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0060;gnomAD_genome_NFE=0.0082;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-814.971,0,-979.214:1037:511:487:13145:15427 . . . . . . . . . . . . . 0/1:-857.893,0,-979.308:1016:495:488:13744:15020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-776.903,0,-928.006:981:499:449:12505:14426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-894.661,0,-1161.15:1038:559:460:13960:17334:559,460 . 0/1:-755.689,0,-973.502:890:464:395:11792:14373:464,395 . . . . . . . . . . . . chr1 237993798 . C T 10514.70 . AB=0.458045;ABP=18.4978;AC=4;AF=0.5;AN=8;AO=464;CIGAR=1X;DP=4519;DPB=1013;DPRA=0;EPP=97.3758;EPPR=85.314;GTI=0;LEN=1;MEANALT=3;MQM=38.8901;MQMR=39.4361;NS=1;NUMALT=1;ODDS=2004.05;PAIRED=0.969828;PAIREDR=0.943609;PAO=0;PQA=0;PQR=0;PRO=0;QA=14074;QR=16286;RO=532;RPL=172;RPP=70.4008;RPPR=163.03;RPR=292;RUN=1;SAF=273;SAP=34.4779;SAR=191;SF=0,1;SRF=312;SRP=37.5579;SRR=220;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0037;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0037;1000g2015aug_all=0.00159744;avsnp147=rs76289511;Kaviar_AF=0.0029366;Kaviar_AC=454;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0002;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0040;ExAC_OTH=0.0078;ExAC_SAS=0.0028;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0047;dpsi_zscore=-0.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0030;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0138;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0033;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0034;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-898.773,0,-1082.79:1013:532:464:14074:16286 . . 0/1:-1366.05,0,-1305.91:1401:661:701:20885:20169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1056.99,0,-1189.57:1176:587:560:16584:18146 . . . . . . . . . . . . . . . . . . . . 0/1:-981.889,0,-968.871:929:458:456:14477:14362:458,456 . . . . . . . chr1 237993877 . G C 6281.38 . AB=0.470426;ABP=8.53307;AC=1;AF=0.5;AN=2;AO=342;CIGAR=1X;DP=727;DPB=727;DPRA=0;EPP=3.9246;EPPR=3.21711;GTI=0;LEN=1;MEANALT=3;MQM=38.2895;MQMR=39.3228;NS=1;NUMALT=1;ODDS=1446.34;PAIRED=0.94152;PAIREDR=0.97619;PAO=0;PQA=0;PQR=0;PRO=0;QA=10198;QR=11710;RO=378;RPL=160;RPP=6.08338;RPPR=5.7907;RPR=182;RUN=1;SAF=119;SAP=71.6847;SAR=223;SF=0;SRF=124;SRP=100.095;SRR=254;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon103:c.G14703C:p.V4901V;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=8.1e-05;esp6500siv2_ea=.;esp6500siv2_all=8.1e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201371633;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=9.939e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=178037;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0427;dpsi_zscore=-0.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-643.506,0,-779.897:727:378:342:10198:11710 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237993968 . T C 8539.53 . AB=0.465856;ABP=13.8352;AC=1;AF=0.5;AN=2;AO=498;CIGAR=1X;DP=1069;DPB=1069;DPRA=0;EPP=8.66136;EPPR=30.8683;GTI=0;LEN=1;MEANALT=3;MQM=37.5723;MQMR=38.0782;NS=1;NUMALT=1;ODDS=1966.3;PAIRED=0.967871;PAIREDR=0.969091;PAO=0;PQA=0;PQR=0;PRO=0;QA=14265;QR=17170;RO=550;RPL=332;RPP=123.165;RPPR=160.936;RPR=166;RUN=1;SAF=209;SAP=30.9168;SAR=289;SF=0;SRF=218;SRP=54.3202;SRR=332;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0064;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0064;esp6500siv2_ea=0.0006;1000g2015aug_all=0.00599042;avsnp147=rs140988296;Kaviar_AF=0.0020504;Kaviar_AC=317;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0193;ExAC_AMR=0.0036;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0084;dpsi_zscore=0.057;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0181;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0020;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0050;gnomAD_genome_AFR=0.0174;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-878.047,0,-1104.7:1069:550:498:14265:17170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr1 237995837 . C G 10109.60 . AB=0.508418;ABP=3.55865;AC=3;AF=0.5;AN=6;AO=453;CIGAR=1X;DP=3287;DPB=891;DPRA=0;EPP=392.365;EPPR=293.107;GTI=0;LEN=1;MEANALT=3;MQM=39.6402;MQMR=39.8208;NS=1;NUMALT=1;ODDS=1806.86;PAIRED=0.977925;PAIREDR=0.978774;PAO=0;PQA=0;PQR=0;PRO=0;QA=13142;QR=12736;RO=424;RPL=262;RPP=27.1745;RPPR=16.8586;RPR=191;RUN=1;SAF=284;SAP=66.4048;SAR=169;SF=0;SRF=277;SRP=89.5619;SRR=147;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0076;esp6500siv2_ea=0.0107;esp6500siv2_all=0.0076;esp6500siv2_ea=0.0107;1000g2015aug_all=0.00179712;avsnp147=rs790897;Kaviar_AF=0.005498;Kaviar_AC=850;Kaviar_AN=154602;ExAC_ALL=0.0059;ExAC_AFR=0.0018;ExAC_AMR=0.0019;ExAC_EAS=0;ExAC_FIN=0.0032;ExAC_NFE=0.0083;ExAC_OTH=0.0062;ExAC_SAS=0.0053;CLNALLELEID=45396;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0055;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0044;gnomAD_exome_EAS=5.858e-05;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0087;gnomAD_exome_OTH=0.0047;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0054;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0089;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-873.784,0,-833.567:891:424:453:13142:12736 . . . . . . . . . 0/1:-957.078,0,-997.204:1058:518:514:14729:15540 . . . . . . . . . . . . . . . . . . 0/1:-1372.73,0,-1224.82:1338:626:682:20564:18721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18430167 . G C 4642.91 . AB=0.657609;ABP=122.111;AC=1;AF=0.5;AN=2;AO=363;CIGAR=1X;DP=552;DPB=552;DPRA=0;EPP=40.3441;EPPR=3.20549;GTI=0;LEN=1;MEANALT=3;MQM=26.2121;MQMR=30.8146;NS=1;NUMALT=1;ODDS=434.039;PAIRED=0.903581;PAIREDR=0.719101;PAO=0;PQA=0;PQR=0;PRO=0;QA=9893;QR=5447;RO=178;RPL=154;RPP=21.1059;RPPR=38.5834;RPR=209;RUN=1;SAF=172;SAP=5.16981;SAR=191;SF=0;SRF=153;SRP=202.883;SRR=25;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=0.0198;esp6500siv2_ea=0.0274;esp6500siv2_all=0.0198;esp6500siv2_ea=0.0274;1000g2015aug_all=0.00798722;avsnp147=rs150534429;Kaviar_AF=0.0074967;Kaviar_AC=1159;Kaviar_AN=154602;ExAC_ALL=0.0160;ExAC_AFR=0.0097;ExAC_AMR=0.0325;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0366;ExAC_OTH=0.0141;ExAC_SAS=0.0053;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0111;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0067;gnomAD_exome_ASJ=0.0135;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0164;gnomAD_exome_NFE=0.0172;gnomAD_exome_OTH=0.0156;gnomAD_exome_SAS=0.0047;gnomAD_genome_ALL=0.0109;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0224;gnomAD_genome_NFE=0.0139;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-491.662,0,-235.299:552:178:363:9893:5447 . . . . . . . . . . . . . . . . . . . . . . . chr10 18430220 . G A 1632.75 . AB=0.398305;ABP=45.4092;AC=36;AF=0.5;AN=62;AO=188;CIGAR=1X;DP=11785;DPB=472;DPRA=0;EPP=147.898;EPPR=228.843;GTI=0;LEN=1;MEANALT=3;MQM=24.4574;MQMR=26.4573;NS=1;NUMALT=1;ODDS=225.26;PAIRED=0.856383;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=3680;QR=6513;RO=234;RPL=102;RPP=5.9672;RPPR=6.01695;RPR=86;RUN=1;SAF=100;SAP=4.67356;SAR=88;SF=0,1;SRF=131;SRP=10.2857;SRR=103;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.107628;avsnp147=rs12572321;Kaviar_AF=0.0210799;Kaviar_AC=3259;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0985;gnomAD_genome_AFR=0.0589;gnomAD_genome_AMR=0.2086;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0462;gnomAD_genome_FIN=0.1209;gnomAD_genome_NFE=0.1135;gnomAD_genome_OTH=0.1357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-121.899,0,-299.121:472:234:188:3680:6513 0/1:-132.171,0,-210.404:330:153:149:3197:4354 . 1/1:-351.318,-60.4674,0:360:17:277:5726:371 . . 0/1:-103.333,0,-320.454:440:247:160:3216:6810 0/1:-111.94,0,-233.004:338:179:129:2879:4942 . 0/1:-113.568,0,-188.306:350:167:143:2985:4692 0/1:-117.427,0,-194.988:319:161:127:2826:4608 0/1:-86.2259,0,-259.426:367:189:139:2766:5285 . . . . . . . . . . 0/1:-123.902,0,-332.749:459:237:180:3611:6613 . 0/1:-66.7131,0,-243.312:340:189:118:2322:5424 . . . . . 0/1:-120.406,0,-295.543:466:228:181:3711:6433 . . . . . . . 0/1:-72.4448,0,-183.766:253:127:101:2141:3652 0/1:-143.928,0,-284.734:444:206:195:3862:5902 . 1/1:-509.547,-96.2319,0:409:11:345:7345:194 . . . . . 1/1:-376.535,-70.3321,0:333:7:256:5418:111 1/1:-528.739,-101.632,0:428:9:365:7564:210 . . . 0/1:-148.592,0,-372.295:505:275:186:3763:7638 0/1:-56.0853,0,-229.187:287:162:97:2140:4532 . . 0/1:-50.0479,0,-191.234:251:145:84:1749:3987 0/1:-79.6248,0,-140.383:263:127:109:2168:3366 . . . . . . . . . . . 0/1:-102.634,0,-306.375:399:224:137:3033:6372 . . . . . . 0/1:-125.902,0,-304.497:467:224:195:3905:6383 . 0/1:-54.8838,0,-121.863:187:93:75:1552:2563 0/1:-134.244,0,-309.943:444:222:186:3655:6339 1/1:-391.954,-66.5186,0:402:24:310:6263:486 . . . . . . . . 0/1:-117.709,0,-349.786:493:260:189:4076:7371 0/1:-75.3293,0,-263.648:355:193:136:2587:5690 . . . . 0/1:-346.98,0,-393.371:478:224:236:5969:6619:224,236 0/1:-339.353,0,-332.558:422:192:219:5821:5622:192,219 . . 0/1:-269.879,0,-316.877:368:182:176:4596:5390:182,176 . . . . . . . 0/1:-216.809,0,-329.154:356:188:154:4007:5554:188,154 . . . . . . . chr10 18439810 . AGTCA TGTCA,TTTTT 73.67 . AB=0;ABP=0;AC=8,7;AF=1;AN=24;AO=93;CIGAR=1X;DP=1340;DPB=148;DPRA=0;EPP=204.957;EPPR=118.098;GTI=0;LEN=1;MEANALT=2;MQM=15.9462;MQMR=17.7358;NS=1;NUMALT=1;ODDS=19.5071;PAIRED=0.709677;PAIREDR=0.886792;PAO=0;PQA=0;PQR=0;PRO=0;QA=1484;QR=805;RO=53;RPL=82;RPP=120.713;RPPR=32.8783;RPR=11;RUN=1;SAF=82;SAP=120.713;SAR=11;SF=0;SRF=13;SRP=32.8783;SRR=40;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:exon2:c.121-2A>T,NM_201597:exon2:c.121-2A>T,NM_201596:exon2:c.121-2A>T,NM_201572:exon2:c.37-2A>T,NM_201571:exon2:c.37-2A>T,NM_001167945:exon2:c.37-2A>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750396182;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=8.708e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0010;ExAC_NFE=7.205e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=227847;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=4.429;CADD_phred=24.2;DANN_score=0.995;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.061;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.627;phastCons20way_mammalian=0.854;SiPhy_29way_logOdds=14.962;GDI_full_10282015=.;dpsi_max_tissue=-17.4021;dpsi_zscore=-3.132;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=HGMD::Atrial_fibrillation#24727801;hgmdPRO=id:CS144329#"Atrial_fibrillation";gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0.0024;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0181;gnomAD_genome_AFR=0.0144;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0102;gnomAD_genome_FIN=0.0312;gnomAD_genome_NFE=0.0214;gnomAD_genome_OTH=0.0526;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_substitution;AAChange.refGene=CACNB2:NM_001167945:exon2:c.37_39TTTTT,CACNB2:NM_201571:exon2:c.37_39TTTTT,CACNB2:NM_201572:exon2:c.37_39TTTTT,CACNB2:NM_201593:exon2:c.121_123TTTTT,CACNB2:NM_201596:exon2:c.121_123TTTTT,CACNB2:NM_201597:exon2:c.121_123TTTTT;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 1/1:.,.,0,.,.,.:148:53:93,.:1484,.:805 . 0/1:.,.,-18.6829,.,.,.:153:63:90,.:1401,.:1032 . . . . . . . . . . . . . . . . . . . 0/1:.,.,-21.5888,.,.,.:132:56:76,.:1246,.:966 . 2/2:-40.0622,.,.,-4.36857,.,0:82:5:.,36:.,648:88 . . . . . 0/2:-35.0489,.,.,0,.,-0.312595:118:3:.,42:.,700:81 . . . . . 0/1:.,.,-20.659,.,.,.:133:60:72,.:1163,.:994 2/2:-16.721,.,.,-1.58932,.,0:54:1:.,18:.,291:25 0/1:.,.,-31.8394,.,.,.:154:69:83,.:1304,.:1102 0/2:-38.3779,.,.,0,.,-2.69173:119:6:.,43:.,742:98 . . . . . . . . . . . . . . . . . . 0/1:.,.,-5.89001,.,.,.:103:42:61,.:1017,.:676 . . . . . . . . . . . . . . . 0/1:.,.,-4.20726,.,.,.:84:34:48,.:747,.:537 0/2:-28.2653,.,.,0,.,-4.48655:60:3:.,27:.,477:42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18439811 . G T 67.03 . AB=0.525974;ABP=3.91273;AC=5;AF=0.5;AN=10;AO=81;CIGAR=1X;DP=627;DPB=154;DPRA=0;EPP=178.9;EPPR=133.434;GTI=0;LEN=1;MEANALT=3;MQM=19.8642;MQMR=21.1562;NS=1;NUMALT=1;ODDS=21.9238;PAIRED=0.592593;PAIREDR=0.828125;PAO=0;PQA=0;PQR=0;PRO=0;QA=1260;QR=1064;RO=64;RPL=70;RPP=96.33;RPPR=94.755;RPR=11;RUN=1;SAF=70;SAP=96.33;SAR=11;SF=0;SRF=7;SRP=87.8334;SRR=57;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:exon2:c.121-1G>T,NM_201597:exon2:c.121-1G>T,NM_201596:exon2:c.121-1G>T,NM_201572:exon2:c.37-1G>T,NM_201571:exon2:c.37-1G>T,NM_001167945:exon2:c.37-1G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=227848;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=4.792;CADD_phred=24.7;DANN_score=0.995;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.061;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.693;phastCons20way_mammalian=0.930;SiPhy_29way_logOdds=18.620;GDI_full_10282015=.;dpsi_max_tissue=-18.4685;dpsi_zscore=-3.159;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0.0010;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0024;gnomAD_genome_OTH=0.0094;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-40.0046,0,-22.8236:154:64:81:1260:1064 . . . . . . . . . . . . . . . . . . . 0/1:-35.1296,0,-20.0281:128:54:70:1164:839 . . . . . . . . . . . . . . . 0/1:-38.4029,0,-28.7899:153:69:74:1209:1053 . . . . . . . . . . . . . . . . . . . 0/1:-31.7845,0,-7.65656:104:36:64:1038:673 . . . . . . . . . . . . . . . 0/1:-23.9596,0,-8.31441:88:27:56:848:488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18439813 . CA TA,AA,TT 123.61 . AB=0.413636;ABP=17.2631;AC=52,8,2;AF=0.5;AN=116;AO=91;CIGAR=1X;DP=10982;DPB=220;DPRA=0;EPP=200.614;EPPR=23.691;GTI=0;LEN=1;MEANALT=3;MQM=21.6264;MQMR=33.119;NS=1;NUMALT=1;ODDS=15.7977;PAIRED=0.604396;PAIREDR=0.928571;PAO=0;PQA=0;PQR=0;PRO=0;QA=1448;QR=844;RO=42;RPL=56;RPP=13.5336;RPPR=62.7775;RPR=35;RUN=1;SAF=56;SAP=13.5336;SAR=35;SF=0;SRF=9;SRP=32.7905;SRR=33;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_001167945:exon2:c.C38T:p.S13L,CACNB2:NM_201571:exon2:c.C38T:p.S13L,CACNB2:NM_201572:exon2:c.C38T:p.S13L,CACNB2:NM_201593:exon2:c.C122T:p.S41L,CACNB2:NM_201596:exon2:c.C122T:p.S41L,CACNB2:NM_201597:exon2:c.C122T:p.S41L;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs779840568;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.36e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.376;SIFT_pred=T;Polyphen2_HDIV_score=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.083;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=-1.62;FATHMM_pred=D;PROVEAN_score=-0.58;PROVEAN_pred=N;VEST3_score=0.48;CADD_raw=3.072;CADD_phred=22.4;DANN_score=0.995;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.447;MetaSVM_pred=T;MetaLR_score=0.329;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.766;phastCons20way_mammalian=0.967;SiPhy_29way_logOdds=18.620;GDI_full_10282015=.;dpsi_max_tissue=1.8544;dpsi_zscore=1.920;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.589e-05;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=CACNB2:NM_001167945:exon2:c.C38A:p.S13X,CACNB2:NM_201571:exon2:c.C38A:p.S13X,CACNB2:NM_201572:exon2:c.C38A:p.S13X,CACNB2:NM_201593:exon2:c.C122A:p.S41X,CACNB2:NM_201596:exon2:c.C122A:p.S41X,CACNB2:NM_201597:exon2:c.C122A:p.S41X;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.057;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=10.938;CADD_phred=37;DANN_score=0.996;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.766;phastCons20way_mammalian=0.967;SiPhy_29way_logOdds=18.620;GDI_full_10282015=.;dpsi_max_tissue=-34.2843;dpsi_zscore=-3.412;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNB2:NM_001167945:exon2:c.38_39TT,CACNB2:NM_201571:exon2:c.38_39TT,CACNB2:NM_201572:exon2:c.38_39TT,CACNB2:NM_201593:exon2:c.122_123TT,CACNB2:NM_201596:exon2:c.122_123TT,CACNB2:NM_201597:exon2:c.122_123TT;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . 0/1:.,.,-28.6042,.,.,.,.,.,.,.:220:42:91,.,.:1448,.,.:844 0/1:.,.,-19.1396,.,.,.,.,.,.,.:213:40:105,.,.:1620,.,.:837 . 0/1:.,.,-2.92851,.,.,.,.,.,.,.:123:23:75,.,.:1129,.,.:450 0/1:.,.,-42.1795,.,.,.,.,.,.,.:248:57:85,.,.:1266,.,.:1100 0/2:.,.,.,.,.,-28.2349,.,.,.,.:286:69:.,137,.:.,1989,.:1348 0/1:.,.,-36.9114,.,.,.,.,.,.,.:239:54:73,.,.:1072,.,.:999 0/1:.,.,-26.2647,.,.,.,.,.,.,.:153:32:68,.,.:1028,.,.:645 0/2:.,.,.,.,.,-27.9269,.,.,.,.:266:59:.,123,.:.,1773,.:1135 0/1:.,.,-6.20541,.,.,.,.,.,.,.:149:25:90,.,.:1408,.,.:518 . 1/1:.,.,0,.,.,.,.,.,.,.:155:19:95,.,.:1468,.,.:369 0/2:.,.,.,.,.,-27.1022,.,.,.,.:170:37:.,61,.:.,883,.:751 . 0/1:.,.,-37.1386,.,.,.,.,.,.,.:194:50:73,.,.:1125,.,.:1004 . 0/1:.,.,-46.5825,.,.,.,.,.,.,.:244:61:100,.,.:1531,.,.:1265 0/2:.,.,.,.,.,-8.8294,.,.,.,.:251:48:.,124,.:.,1775,.:909 0/1:.,.,-11.845,.,.,.,.,.,.,.:128:24:62,.,.:948,.,.:538 0/1:.,.,-26.7766,.,.,.,.,.,.,.:167:39:56,.,.:842,.,.:789 0/1:.,.,-63.4412,.,.,.,.,.,.,.:278:77:92,.,.:1388,.,.:1495 . . . 0/1:.,.,-12.8994,.,.,.,.,.,.,.:132:31:50,.,.:789,.,.:551 . 0/1:.,.,-57.5784,.,.,.,.,.,.,.:229:63:73,.,.:1082,.,.:1261 0/1:.,.,-9.52339,.,.,.,.,.,.,.:129:21:54,.,.:849,.,.:405 . 0/1:.,.,-34.4705,.,.,.,.,.,.,.:225:44:59,.,.:852,.,.:869 . 3/3:-40.3787,.,.,.,.,.,-2.07544,.,.,0:129:14:.,.,54:.,.,931:261 0/1:.,.,-32.9279,.,.,.,.,.,.,.:180:44:54,.,.:761,.,.:818 . 0/2:.,.,.,.,.,-21.9337,.,.,.,.:258:49:.,113,.:.,1658,.:935 0/1:.,.,-17.925,.,.,.,.,.,.,.:166:44:60,.,.:912,.,.:727 . 0/1:.,.,-49.7626,.,.,.,.,.,.,.:206:47:74,.,.:1068,.,.:1085 0/1:.,.,-1.47129,.,.,.,.,.,.,.:104:21:47,.,.:679,.,.:365 . 0/1:.,.,-30.1509,.,.,.,.,.,.,.:167:43:53,.,.:771,.,.:794 0/1:.,.,-0.404608,.,.,.,.,.,.,.:124:18:70,.,.:1124,.,.:389 0/1:.,.,-25.002,.,.,.,.,.,.,.:169:38:62,.,.:926,.,.:779 . 0/1:.,.,-12.4675,.,.,.,.,.,.,.:161:25:60,.,.:905,.,.:512 0/1:.,.,-2.92739,.,.,.,.,.,.,.:135:26:74,.,.:1170,.,.:482 . 0/1:.,.,-5.46682,.,.,.,.,.,.,.:158:26:93,.,.:1433,.,.:497 . 0/1:.,.,-31.3886,.,.,.,.,.,.,.:196:47:73,.,.:1078,.,.:984 . . 0/1:.,.,-33.8667,.,.,.,.,.,.,.:205:51:86,.,.:1331,.,.:1090 0/1:.,.,-29.2553,.,.,.,.,.,.,.:181:46:64,.,.:926,.,.:856 0/1:.,.,-27.1617,.,.,.,.,.,.,.:132:29:49,.,.:762,.,.:609 . . 0/1:.,.,-21.2874,.,.,.,.,.,.,.:208:45:81,.,.:1190,.,.:766 0/1:.,.,-32.9825,.,.,.,.,.,.,.:205:51:61,.,.:888,.,.:1074 0/1:.,.,-17.2907,.,.,.,.,.,.,.:147:34:55,.,.:827,.,.:624 0/2:.,.,.,.,.,-27.0286,.,.,.,.:275:69:.,115,.:.,1676,.:1229 . . . 0/1:.,.,-43.6225,.,.,.,.,.,.,.:208:46:85,.,.:1309,.,.:1064 0/1:.,.,-30.2413,.,.,.,.,.,.,.:172:45:54,.,.:788,.,.:840 0/2:.,.,.,.,.,-29.5689,.,.,.,.:290:69:.,140,.:.,2069,.:1302 1/1:.,.,0,.,.,.,.,.,.,.:105:20:64,.,.:1039,.,.:418 . 0/1:.,.,-17.699,.,.,.,.,.,.,.:173:31:66,.,.:994,.,.:601 . 0/1:.,.,-47.476,.,.,.,.,.,.,.:286:67:85,.,.:1273,.,.:1223 . 0/2:.,.,.,.,.,-42.0792,.,.,.,.:227:59:.,97,.:.,1378,.:1130 . . 0/1:.,.,-58.2096,.,.,.,.,.,.,.:221:59:88,.,.:1260,.,.:1321 0/1:.,.,-9.40599,.,.,.,.,.,.,.:135:26:69,.,.:1080,.,.:534 0/1:.,.,-37.8992,.,.,.,.,.,.,.:164:42:77,.,.:1218,.,.:980 . 0/1:.,.,-41.456,.,.,.,.,.,.,.:233:60:72,.,.:1053,.,.:1109 . 0/1:.,.,-47.9878,.,.,.,.,.,.,.:233:59:68,.,.:991,.,.:1163 1/1:.,.,0,.,.,.,.,.,.,.:86:13:58,.,.:903,.,.:249 . . . 0/1:.,.,-22.9311,.,.,.,.,.,.,.:126:29:46,.,.:709,.,.:627 0/1:.,.,-25.591,.,.,.,.,.,.,.:193:47:79,.,.:1176,.,.:901 0/1:.,.,-16.8151,.,.,.,.,.,.,.:222:39:115,.,.:1782,.,.:797 0/1:.,.,-28.8236,.,.,.,.,.,.,.:203:49:78,.,.:1224,.,.:910 . . . . . . . . . . . . . . . . . . . . . . . . chr10 18439925 . GT GC,TT 533.26 . AB=0.59204;ABP=17.8001;AC=1,0;AF=0.5;AN=8;AO=119;CIGAR=1M1X;DP=1275;DPB=201;DPRA=0;EPP=3.46649;EPPR=10.6105;GTI=0;LEN=1;MEANALT=7;MQM=35.7227;MQMR=35.3929;NS=1;NUMALT=1;ODDS=168.227;PAIRED=0.857143;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=3429;QR=1769;RO=56;RPL=35;RPP=46.8229;RPPR=25.3454;RPR=84;RUN=1;SAF=53;SAP=6.09416;SAR=66;SF=1;SRF=35;SRP=10.6105;SRR=21;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0356;dpsi_zscore=-0.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-229.769,0,-87.9823,.,.,.:201:56:119,.:3429,.:1769:56,119 0/0:.,.,.,.,.,-749.135:340:318:.,22:.,360:9603:318,22 . 0/0:.,.,.,.,.,-867.141:397:371:.,24:.,447:11242:371,24 . . . . . 0/0:.,.,.,.,.,-729.455:337:318:.,19:.,340:9402:318,19 . . . . . . . chr10 18439926 . T C 2994.71 . AB=0.47379;ABP=5.96981;AC=17;AF=0.5;AN=34;AO=235;CIGAR=1X;DP=7776;DPB=496;DPRA=0;EPP=13.073;EPPR=3.01909;GTI=0;LEN=1;MEANALT=3;MQM=34.4596;MQMR=32.8219;NS=1;NUMALT=1;ODDS=861.508;PAIRED=0.889362;PAIREDR=0.797571;PAO=0;PQA=0;PQR=0;PRO=0;QA=6766;QR=7092;RO=247;RPL=83;RPP=47.0034;RPPR=119.276;RPR=152;RUN=1;SAF=101;SAP=13.073;SAR=134;SF=0,1;SRF=92;SRP=37.9033;SRR=155;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.33;genomicSuperDups=.;esp6500siv2_all=0.0904;esp6500siv2_ea=0.1213;esp6500siv2_all=0.0904;esp6500siv2_ea=0.1213;1000g2015aug_all=0.0632987;avsnp147=rs79819217;Kaviar_AF=0.0965641;Kaviar_AC=14929;Kaviar_AN=154602;ExAC_ALL=0.0956;ExAC_AFR=0.0253;ExAC_AMR=0.0561;ExAC_EAS=0.02;ExAC_FIN=0.0561;ExAC_NFE=0.1292;ExAC_OTH=0.0795;ExAC_SAS=0.0877;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1373;dpsi_zscore=-0.551;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0926;gnomAD_exome_AFR=0.0219;gnomAD_exome_AMR=0.0589;gnomAD_exome_ASJ=0.1359;gnomAD_exome_EAS=0.0214;gnomAD_exome_FIN=0.0564;gnomAD_exome_NFE=0.1275;gnomAD_exome_OTH=0.1012;gnomAD_exome_SAS=0.0888;gnomAD_genome_ALL=0.0722;gnomAD_genome_AFR=0.0240;gnomAD_genome_AMR=0.0648;gnomAD_genome_ASJ=0.16;gnomAD_genome_EAS=0.0253;gnomAD_genome_FIN=0.0444;gnomAD_genome_NFE=0.1093;gnomAD_genome_OTH=0.0830;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-388.142,0,-396.388:496:247:235:6766:7092 . . . . . . 0/1:-319.078,0,-401.318:463:233:207:5868:6890 . 0/1:-418.181,0,-539.008:569:306:250:7498:9298 . . . . . . . . 0/1:-310.128,0,-500.618:517:302:195:5742:8725 . . . . . . . 0/1:-308.441,0,-524.183:500:279:200:5839:8465 . . . . . . 0/1:-169.228,0,-312.89:322:188:123:3482:5497 . 0/1:-369.373,0,-538.726:570:300:237:6878:8914 0/1:-258.841,0,-307.059:365:192:161:4593:5556 . . . . 0/1:-176.965,0,-391.008:369:213:140:3636:6348 . . 0/1:-377.164,0,-764.562:707:406:265:7596:12421 . . . . . . . . . . . . . . . . 0/1:-366.029,0,-492.973:541:282:232:6595:8436 . . . . 0/1:-215.452,0,-351.205:350:196:144:4075:5859 . . . . . . . 0/1:-370.941,0,-425.572:484:241:226:6571:7289 . . . . . 0/1:-412.844,0,-331.341:462:202:241:6848:6032 . . . . . . . . . . 0/1:-306.193,0,-320.366:406:206:188:5402:5877 . . . . . . . . . . . . . . . . 0/1:-300.477,0,-243.829:341:144:185:5083:4393:144,185 0/1:-284.146,0,-279.222:314:147:158:4667:4491:147,158 . . . . . . chr10 18629941 . G A 10679.23 . AB=0.479746;ABP=7.4964;AC=2;AF=0.5;AN=4;AO=604;CIGAR=1X;DP=2302;DPB=1259;DPRA=0;EPP=32.131;EPPR=21.8849;GTI=0;LEN=1;MEANALT=3;MQM=39.5977;MQMR=40.2333;NS=1;NUMALT=1;ODDS=2763.33;PAIRED=0.981788;PAIREDR=0.969841;PAO=0;PQA=0;PQR=0;PRO=0;QA=18522;QR=19020;RO=630;RPL=281;RPP=9.35215;RPPR=10.3037;RPR=323;RUN=1;SAF=286;SAP=6.69174;SAR=318;SF=0;SRF=324;SRP=4.12706;SRR=306;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.32;genomicSuperDups=.;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0057;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0057;1000g2015aug_all=0.000798722;avsnp147=rs146042014;Kaviar_AF=0.0032212;Kaviar_AC=498;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0007;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0044;ExAC_OTH=0;ExAC_SAS=0.0021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0031;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0054;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0045;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1212.25,0,-1268.05:1259:630:604:18522:19020 . . . . . . . . . . 0/1:-948.422,0,-1057.92:1043:535:488:14773:16237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18789724 . T G 11279.94 . AB=0;ABP=0;AC=85;AF=1;AN=134;AO=804;CIGAR=1X;DP=53375;DPB=838;DPRA=0;EPP=14.0729;EPPR=38.0434;GTI=0;LEN=1;MEANALT=3;MQM=39.9677;MQMR=34.3667;NS=1;NUMALT=1;ODDS=917.853;PAIRED=0.987562;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24613;QR=723;RO=30;RPL=323;RPP=70.434;RPPR=3.0103;RPR=481;RUN=1;SAF=509;SAP=126.698;SAR=295;SF=0,1;SRF=17;SRP=4.16842;SRR=13;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.3256;esp6500siv2_ea=0.3157;esp6500siv2_all=0.3256;esp6500siv2_ea=0.3157;1000g2015aug_all=0.229832;avsnp147=rs4485000;Kaviar_AF=0.275165;Kaviar_AC=42541;Kaviar_AN=154602;ExAC_ALL=0.2769;ExAC_AFR=0.3528;ExAC_AMR=0.2799;ExAC_EAS=0.0361;ExAC_FIN=0.3671;ExAC_NFE=0.3240;ExAC_OTH=0.2594;ExAC_SAS=0.1260;CLNALLELEID=253715;CLNDN=Brugada_syndrome_4|not_specified;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6152;dpsi_zscore=-1.199;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2779;gnomAD_exome_AFR=0.3576;gnomAD_exome_AMR=0.2874;gnomAD_exome_ASJ=0.2949;gnomAD_exome_EAS=0.0346;gnomAD_exome_FIN=0.3687;gnomAD_exome_NFE=0.3230;gnomAD_exome_OTH=0.2873;gnomAD_exome_SAS=0.1289;gnomAD_genome_ALL=0.3196;gnomAD_genome_AFR=0.3578;gnomAD_genome_AMR=0.3086;gnomAD_genome_ASJ=0.2781;gnomAD_genome_EAS=0.0340;gnomAD_genome_FIN=0.3680;gnomAD_genome_NFE=0.3179;gnomAD_genome_OTH=0.3289;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 1/1:-2065.47,-194.156,0:838:30:804:24613:723 . 1/1:-1967.67,-192.533,0:852:32:812:23819:738 . . 1/1:-2121.77,-217.854,0:877:22:849:25084:532 0/1:-709.882,0,-730.229:707:347:350:10591:10802 0/1:-866.048,0,-908.506:891:433:450:13212:13701 1/1:-1816.29,-166.547,0:766:27:732:21978:745 . . 0/1:-660.771,0,-649.259:686:325:352:10168:10083 . . . 1/1:-3675.3,-358.303,0:1499:44:1447:43855:1089 . 0/1:-569.971,0,-601.004:587:296:290:8765:9040 0/1:-645.178,0,-511.481:580:259:317:9526:7856 . 0/1:-420.522,0,-515.83:493:249:234:6684:7668 0/1:-1044.35,0,-951.623:980:459:515:15472:14470 . . . 0/1:-971.668,0,-810.928:894:399:484:14387:12459 . 0/1:-596.789,0,-628.548:618:303:309:9059:9394 0/1:-693.249,0,-798.894:721:370:348:10480:11777 . . . 0/1:-846.964,0,-799.549:823:381:432:12654:12131 . . 0/1:-910.524,0,-820.666:867:411:447:13479:12624 1/1:-1962.74,-196.624,0:809:23:784:23421:521 . . 0/1:-718.589,0,-692.75:701:332:361:10772:10337 . 0/1:-727.376,0,-823.757:773:383:381:11093:12171 0/1:-1041.72,0,-1020.54:1059:505:542:15820:15444 1/1:-2053.92,-222.435,0:825:15:806:24188:287 0/1:-737.114,0,-784.94:768:375:388:11246:11854 1/1:-1133.46,-116.131,0:463:10:447:13302:250 . . 0/1:-893.889,0,-951.868:914:465:447:13496:14400 0/1:-737.299,0,-908.405:842:433:393:11500:13459 . . 0/1:-606.76,0,-537.811:580:270:304:9086:8274 0/1:-644.25,0,-637.847:616:299:315:9587:9607 . 0/1:-477.892,0,-458.23:498:234:259:7432:7155 0/1:-568.212,0,-573.096:570:284:284:8539:8741 0/1:-734.246,0,-696.021:736:347:381:11143:10622 . 0/1:-875.515,0,-894.01:899:438:455:13343:13577 . 0/1:-549.097,0,-676.389:629:324:302:8611:10029 1/1:-2567.58,-253.591,0:1059:34:1021:30777:737 1/1:-2294.42,-228.862,0:933:24:898:27157:556 . . . 0/1:-812.5,0,-673.922:756:345:407:12145:10578 . 1/1:-2666.35,-272.756,0:1064:25:1035:31477:538 0/1:-1042.18,0,-1001.67:983:466:512:15417:15036 0/1:-519.783,0,-497.356:563:263:293:8175:7800 0/1:-874.781,0,-671.253:771:344:420:12720:10558 0/1:-923.087,0,-1007.14:966:492:465:14112:15095 1/1:-2070.68,-198.821,0:855:27:823:24720:657 1/1:-2599.49,-266.882,0:1068:27:1026:30769:594 0/1:-468.161,0,-596.551:532:280:249:7332:8869 . 0/1:-848.548,0,-852.59:876:427:445:13046:13049 1/1:-2356.49,-252.366,0:969:21:937:27921:405 0/1:-868.299,0,-897.118:874:437:433:13166:13422 0/1:-743.495,0,-818.736:809:399:404:11397:12461 . 0/1:-651.7,0,-715.213:678:339:334:9930:10615 0/1:-653.152,0,-558.46:593:271:318:9555:8534 0/1:-783.569,0,-896.528:847:427:412:12073:13434 . 0/1:-743.214,0,-717.044:734:355:373:11283:10985 . . . 0/1:-856.368,0,-703.277:785:358:419:12676:11021 . . . . 0/1:-1025.64,0,-972.758:933:451:479:15081:14371:451,479 1/1:-1129.57,-107.979,0:433:8:423:13290:254:8,423 0/1:-825.213,0,-759.939:743:349:391:12071:11304:349,391 . 0/1:-824.645,0,-876.262:809:407:397:12360:12934:407,397 1/1:-2277,-224.676,0:886:19:862:26728:499:19,862 0/1:-861.484,0,-845.127:798:393:400:12616:12381:393,400 . 1/1:-2375.38,-237.34,0:894:15:874:27534:340:15,874 0/1:-761.528,0,-651.962:672:317:353:11028:9810:317,353 1/1:-2069.34,-201.821,0:802:17:775:24273:413:17,775 0/1:-806.092,0,-876.173:787:403:382:11981:12819:403,382 0/1:-950.452,0,-956.667:891:443:446:14142:14067:443,446 0/1:-950.59,0,-856.59:840:399:438:13915:12723:399,438 0/1:-1161.45,0,-957.392:978:448:522:16722:14386:448,522 . . 0/1:-830.981,0,-933.707:833:435:396:12379:13690:435,396 chr10 18795447 . G C 4148.30 . AB=0.479839;ABP=4.76149;AC=1;AF=0.5;AN=2;AO=238;CIGAR=1X;DP=496;DPB=496;DPRA=0;EPP=73.6653;EPPR=73.9334;GTI=0;LEN=1;MEANALT=3;MQM=39.7983;MQMR=40.0323;NS=1;NUMALT=1;ODDS=955.181;PAIRED=0.995798;PAIREDR=0.979839;PAO=0;PQA=0;PQR=0;PRO=0;QA=6777;QR=7552;RO=248;RPL=84;RPP=47.7171;RPPR=83.705;RPR=154;RUN=1;SAF=127;SAP=5.346;SAR=111;SF=0;SRF=117;SRP=4.72646;SRR=131;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon5:c.G476C:p.S159T,CACNB2:NM_201570:exon5:c.G497C:p.S166T,CACNB2:NM_201590:exon5:c.G479C:p.S160T,CACNB2:NM_001167945:exon6:c.G557C:p.S186T,CACNB2:NM_201571:exon6:c.G557C:p.S186T,CACNB2:NM_201572:exon6:c.G557C:p.S186T,CACNB2:NM_201593:exon6:c.G641C:p.S214T,CACNB2:NM_201596:exon6:c.G641C:p.S214T,CACNB2:NM_201597:exon6:c.G641C:p.S214T;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.00179712;avsnp147=rs149253719;Kaviar_AF=0.0009508;Kaviar_AC=147;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0004;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0.0014;CLNALLELEID=171120;CLNDN=Brugada_syndrome_4|Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:C3150852,OMIM:613601|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.787;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.39;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-1.62;FATHMM_pred=D;PROVEAN_score=-1.02;PROVEAN_pred=N;VEST3_score=0.732;CADD_raw=2.683;CADD_phred=20.7;DANN_score=0.977;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.161;MetaSVM_pred=T;MetaLR_score=0.389;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.9;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.263;GDI_full_10282015=.;dpsi_max_tissue=2.8155;dpsi_zscore=2.194;hgmdCODING=HGMD::Early_repolarization_syndrome#20817017;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM109293#"Early_repolarization_syndrome";gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-434.131,0,-501.768:496:248:238:6777:7552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18816565 . G A 11191.91 . AB=0.49;ABP=4.13947;AC=6;AF=0.5;AN=12;AO=637;CIGAR=1X;DP=6790;DPB=1300;DPRA=0;EPP=4.81361;EPPR=7.16015;GTI=0;LEN=1;MEANALT=3;MQM=40.0848;MQMR=40.1747;NS=1;NUMALT=1;ODDS=2881.96;PAIRED=0.971743;PAIREDR=0.975039;PAO=0;PQA=0;PQR=0;PRO=0;QA=20148;QR=19409;RO=641;RPL=437;RPP=194.485;RPPR=255.487;RPR=200;RUN=1;SAF=315;SAP=3.17734;SAR=322;SF=0,1;SRF=324;SRP=3.17629;SRR=317;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon9:c.G828A:p.S276S,CACNB2:NM_201570:exon9:c.G849A:p.S283S,CACNB2:NM_201590:exon9:c.G831A:p.S277S,CACNB2:NM_001167945:exon10:c.G795A:p.S265S,CACNB2:NM_201571:exon10:c.G909A:p.S303S,CACNB2:NM_201572:exon10:c.G837A:p.S279S,CACNB2:NM_201593:exon10:c.G879A:p.S293S,CACNB2:NM_201596:exon10:c.G993A:p.S331S,CACNB2:NM_201597:exon10:c.G921A:p.S307S;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0124;1000g2015aug_all=0.00359425;avsnp147=rs76956014;Kaviar_AF=0.0074773;Kaviar_AC=1156;Kaviar_AN=154602;ExAC_ALL=0.0073;ExAC_AFR=0.0045;ExAC_AMR=0.0033;ExAC_EAS=0.0001;ExAC_FIN=0.0018;ExAC_NFE=0.0112;ExAC_OTH=0.0044;ExAC_SAS=0.0021;CLNALLELEID=240754;CLNDN=Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6374;dpsi_zscore=-1.218;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0055;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0097;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0116;gnomAD_exome_OTH=0.0060;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0055;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0112;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-1348.38,0,-1286.24:1300:641:637:20148:19409 . . . . . . . . . . . 0/1:-848.599,0,-790.381:838:404:416:12840:12050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-830.877,0,-865.062:887:442:427:12879:13309 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1429.85,0,-1369.82:1401:693:688:21718:20772 . . . . . . . 0/1:-1217.62,0,-1214.47:1225:605:603:18512:18261 . . . . . . . . . . . . . . 0/1:-1207.87,0,-1192.01:1139:566:558:17783:17563:566,558 . . . . . . . . . . . chr10 18816633 . C T 10296.81 . AB=0.458303;ABP=23.4734;AC=27;AF=0.5;AN=52;AO=621;CIGAR=1X;DP=27660;DPB=1355;DPRA=0;EPP=4.86007;EPPR=17.3544;GTI=0;LEN=1;MEANALT=3;MQM=39.401;MQMR=38.7843;NS=1;NUMALT=1;ODDS=2708.41;PAIRED=0.971014;PAIREDR=0.97;PAO=0;PQA=0;PQR=0;PRO=0;QA=18658;QR=21804;RO=700;RPL=237;RPP=78.5712;RPPR=92.6611;RPR=384;RUN=1;SAF=287;SAP=10.7346;SAR=334;SF=0,1;SRF=321;SRP=13.4458;SRR=379;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.1752;esp6500siv2_ea=0.1603;esp6500siv2_all=0.1752;esp6500siv2_ea=0.1603;1000g2015aug_all=0.239417;avsnp147=rs4314963;Kaviar_AF=0.206647;Kaviar_AC=31948;Kaviar_AN=154602;ExAC_ALL=0.2150;ExAC_AFR=0.1937;ExAC_AMR=0.4162;ExAC_EAS=0.2679;ExAC_FIN=0.1910;ExAC_NFE=0.1597;ExAC_OTH=0.22;ExAC_SAS=0.2929;CLNALLELEID=253716;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4593;dpsi_zscore=1.090;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2214;gnomAD_exome_AFR=0.1908;gnomAD_exome_AMR=0.3925;gnomAD_exome_ASJ=0.1493;gnomAD_exome_EAS=0.2623;gnomAD_exome_FIN=0.1955;gnomAD_exome_NFE=0.1604;gnomAD_exome_OTH=0.2041;gnomAD_exome_SAS=0.2919;gnomAD_genome_ALL=0.1906;gnomAD_genome_AFR=0.1936;gnomAD_genome_AMR=0.3270;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.2531;gnomAD_genome_FIN=0.1749;gnomAD_genome_NFE=0.1784;gnomAD_genome_OTH=0.1984;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1193.99,0,-1438.43:1355:700:621:18658:21804 . . . . . . . . . . . . 0/1:-808.064,0,-961.352:874:450:408:12297:14218 . 0/1:-921.031,0,-1045.71:983:487:476:14262:15541 0/1:-1792.53,0,-2410.8:2027:1084:905:28071:34984 . . 0/1:-696.296,0,-1018.34:848:466:363:11047:14832 . . . . . . . 0/1:-774.65,0,-909.352:885:451:411:12178:13986 . . 0/1:-1284.71,0,-1514.8:1376:709:653:19703:22711 . . . . . 0/1:-1108.84,0,-1340.93:1202:625:559:16971:19805 . . . . 0/1:-1075.92,0,-1201.23:1119:568:535:16340:18044 . . . . . . . . 0/1:-980.356,0,-1256.26:1131:587:515:15465:18508 . . . 0/1:-791.384,0,-981.038:865:446:406:12193:14426 . . . 0/1:-919.246,0,-1339.28:1119:627:469:14490:19417 . . . . . . . . 0/1:-868.795,0,-1103.67:983:517:448:13478:16331 1/1:-2536.36,-242.898,0:1071:28:1016:30731:815 . . . . 0/1:-1061.33,0,-1053.77:1027:496:517:15842:15889 . . . . . 0/1:-1237.26,0,-1424.35:1332:672:629:18893:21334 . . . 0/1:-864.849,0,-1167.46:1037:563:459:13629:17370 0/1:-1012.57,0,-1148.68:1073:539:511:15496:17234 . 0/1:-1116.73,0,-1212.38:1171:570:568:17150:18181 . . . 0/1:-806.42,0,-1144.16:968:529:421:12817:16828 . . . . 0/1:-939.268,0,-1170.8:1003:531:455:14227:16875:531,455 . . 0/1:-634.839,0,-668.83:626:310:303:9495:9953:310,303 . . . . . 0/1:-925.005,0,-1061.93:945:488:447:13968:15532:488,447 . . . . . . 0/1:-966.143,0,-1276.23:1069:571:484:14882:18329:571,484 0/1:-842.916,0,-862.478:794:393:395:12399:12687:393,395 0/1:-635.574,0,-1003.22:777:442:327:10182:14254:442,327 . chr10 18828191 . C T 8044.96 . AB=0.496938;ABP=3.10339;AC=2;AF=0.5;AN=4;AO=568;CIGAR=1X;DP=1850;DPB=1143;DPRA=0;EPP=3.56081;EPPR=19.4226;GTI=0;LEN=1;MEANALT=3;MQM=36.4032;MQMR=37.288;NS=1;NUMALT=1;ODDS=2348.82;PAIRED=0.919014;PAIREDR=0.923077;PAO=0;PQA=0;PQR=0;PRO=0;QA=16865;QR=17315;RO=559;RPL=262;RPP=10.4117;RPPR=23.7112;RPR=306;RUN=1;SAF=326;SAP=29.9855;SAR=242;SF=0;SRF=311;SRP=18.4281;SRR=248;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1356T:p.S452S,CACNB2:NM_201570:exon13:c.C1377T:p.S459S,CACNB2:NM_201590:exon13:c.C1359T:p.S453S,CACNB2:NM_001167945:exon14:c.C1323T:p.S441S,CACNB2:NM_201571:exon14:c.C1437T:p.S479S,CACNB2:NM_201572:exon14:c.C1365T:p.S455S,CACNB2:NM_201593:exon14:c.C1407T:p.S469S,CACNB2:NM_201596:exon14:c.C1521T:p.S507S,CACNB2:NM_201597:exon14:c.C1449T:p.S483S;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0083;1000g2015aug_all=0.00279553;avsnp147=rs143060134;Kaviar_AF=0.0047994;Kaviar_AC=742;Kaviar_AN=154602;ExAC_ALL=0.0045;ExAC_AFR=0.0026;ExAC_AMR=0.0035;ExAC_EAS=0.0007;ExAC_FIN=0.0026;ExAC_NFE=0.0063;ExAC_OTH=0.0033;ExAC_SAS=0.0019;CLNALLELEID=240757;CLNDN=Brugada_syndrome_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=2.546;CADD_phred=19.76;DANN_score=0.795;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=-3.76;phyloP7way_vertebrate=-0.392;phyloP20way_mammalian=0.125;phastCons7way_vertebrate=0.899;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=1.833;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0047;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0038;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0020;gnomAD_exome_NFE=0.0076;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0054;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0084;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1031.64,0,-1068.61:1143:559:568:16865:17315 . . . . . . . . . . . . 0/1:-600.313,0,-701.123:707:364:331:9879:11080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18828371 . C T 10695.90 . AB=0.423806;ABP=80.1111;AC=28;AF=0.5;AN=54;AO=648;CIGAR=1X;DP=33008;DPB=1529;DPRA=0;EPP=36.5207;EPPR=34.4494;GTI=0;LEN=1;MEANALT=3;MQM=34.0926;MQMR=35.9483;NS=1;NUMALT=1;ODDS=2344.94;PAIRED=0.833333;PAIREDR=0.842538;PAO=0;PQA=0;PQR=0;PRO=0;QA=19347;QR=26350;RO=851;RPL=397;RPP=74.441;RPPR=10.1779;RPR=251;RUN=1;SAF=267;SAP=46.5604;SAR=381;SF=0,1;SRF=347;SRP=65.9064;SRR=504;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1536T:p.Y512Y,CACNB2:NM_201570:exon13:c.C1557T:p.Y519Y,CACNB2:NM_201590:exon13:c.C1539T:p.Y513Y,CACNB2:NM_001167945:exon14:c.C1503T:p.Y501Y,CACNB2:NM_201571:exon14:c.C1617T:p.Y539Y,CACNB2:NM_201572:exon14:c.C1545T:p.Y515Y,CACNB2:NM_201593:exon14:c.C1587T:p.Y529Y,CACNB2:NM_201596:exon14:c.C1701T:p.Y567Y,CACNB2:NM_201597:exon14:c.C1629T:p.Y543Y;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.1775;esp6500siv2_ea=0.1615;esp6500siv2_all=0.1775;esp6500siv2_ea=0.1615;1000g2015aug_all=0.23722;avsnp147=rs2228645;Kaviar_AF=0.207184;Kaviar_AC=32031;Kaviar_AN=154602;ExAC_ALL=0.2129;ExAC_AFR=0.1977;ExAC_AMR=0.4110;ExAC_EAS=0.2378;ExAC_FIN=0.1931;ExAC_NFE=0.1593;ExAC_OTH=0.2185;ExAC_SAS=0.2946;CLNALLELEID=253717;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2196;gnomAD_exome_AFR=0.1953;gnomAD_exome_AMR=0.3883;gnomAD_exome_ASJ=0.1623;gnomAD_exome_EAS=0.2304;gnomAD_exome_FIN=0.1985;gnomAD_exome_NFE=0.1600;gnomAD_exome_OTH=0.2022;gnomAD_exome_SAS=0.2945;gnomAD_genome_ALL=0.1901;gnomAD_genome_AFR=0.1985;gnomAD_genome_AMR=0.3206;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.2151;gnomAD_genome_FIN=0.1769;gnomAD_genome_NFE=0.1784;gnomAD_genome_OTH=0.1975;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1047.5,0,-1655.78:1529:851:648:19347:26350 . . . . . . . . . . . . 0/1:-713.874,0,-1003.48:954:504:421:12706:15795 . 0/1:-644.633,0,-892.233:946:492:425:12472:15116 0/1:-2436.06,0,-2356.63:2721:1289:1362:40835:39936 0/1:-1125.86,0,-1202.9:1257:617:616:18847:19337 . 0/1:-694.703,0,-950.668:911:482:408:12158:15059 . . . . . . . 0/1:-733.784,0,-946.033:989:525:438:12982:15939 . . 0/1:-1295.79,0,-1569.97:1566:806:724:21688:25539 . . . . . 0/1:-987.957,0,-1313.17:1227:650:558:16835:20695 . . . . 0/1:-1220.08,0,-1269.4:1362:660:667:20000:20767 . . . . . . . . 0/1:-910.236,0,-990.869:1140:560:553:16240:17237 . . . 0/1:-727.904,0,-986.013:947:511:418:12634:15931 . . . 0/1:-1125.09,0,-1417.97:1468:760:678:20330:23390 . . . . . . . . 0/1:-935.691,0,-1135.32:1149:579:542:15938:17914 1/1:-2829.76,-317.07,0:1304:29:1235:36528:805 . . . . 0/1:-865.834,0,-1029.34:1042:541:479:14482:16874 . . . . . 0/1:-1145.08,0,-1342.87:1397:695:671:19713:21648 . . . 0/1:-757.508,0,-1302.01:1196:684:473:14509:21126 0/1:-1022.5,0,-1150.78:1211:610:567:17040:18761 . 0/1:-1048.12,0,-1239.39:1298:659:604:18032:20257 . . . 0/1:-961.383,0,-1143.97:1199:610:555:16663:18687 . . . . 0/1:-1278.02,0,-1337.02:1286:653:619:19697:20301:653,619 . . 0/1:-648.169,0,-679.589:668:337:322:9961:10564:337,322 . . . . . 0/1:-1256.18,0,-1159.03:1163:549:598:18827:17575:549,598 . . . . . . 0/1:-1083.85,0,-1434.88:1208:654:542:17061:21065:654,542 0/1:-942.44,0,-1076.67:952:497:449:14318:15914:497,449 0/1:-890.058,0,-1026.42:918:476:430:13657:15225:476,430 . chr10 18828426 . C G 5570.77 . AB=0.524345;ABP=5.75921;AC=1;AF=0.5;AN=2;AO=280;CIGAR=1X;DP=534;DPB=534;DPRA=0;EPP=3.0103;EPPR=4.48411;GTI=0;LEN=1;MEANALT=3;MQM=39.5821;MQMR=39.6667;NS=1;NUMALT=1;ODDS=1082.37;PAIRED=0.946429;PAIREDR=0.955823;PAO=0;PQA=0;PQR=0;PRO=0;QA=8578;QR=7661;RO=249;RPL=201;RPP=118.44;RPPR=130.691;RPR=79;RUN=1;SAF=107;SAP=36.7922;SAR=173;SF=1;SRF=88;SRP=49.4833;SRR=161;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1591G:p.R531G,CACNB2:NM_201570:exon13:c.C1612G:p.R538G,CACNB2:NM_201590:exon13:c.C1594G:p.R532G,CACNB2:NM_001167945:exon14:c.C1558G:p.R520G,CACNB2:NM_201571:exon14:c.C1672G:p.R558G,CACNB2:NM_201572:exon14:c.C1600G:p.R534G,CACNB2:NM_201593:exon14:c.C1642G:p.R548G,CACNB2:NM_201596:exon14:c.C1756G:p.R586G,CACNB2:NM_201597:exon14:c.C1684G:p.R562G;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=1.97;FATHMM_pred=T;PROVEAN_score=-1.33;PROVEAN_pred=N;VEST3_score=0.587;CADD_raw=5.821;CADD_phred=27.2;DANN_score=0.999;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=0.152;MetaSVM_pred=D;MetaLR_score=0.518;MetaLR_pred=D;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.91;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.972;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=13.220;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.064e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-578.866,0,-494.6:534:249:280:8578:7661:249,280 . . . . . . . . chr10 18828455 . C T 6064.23 . AB=0.415596;ABP=70.4574;AC=1;AF=0.5;AN=2;AO=453;CIGAR=1X;DP=1090;DPB=1090;DPRA=0;EPP=3.13014;EPPR=5.09491;GTI=0;LEN=1;MEANALT=3;MQM=33.6578;MQMR=33.845;NS=1;NUMALT=1;ODDS=1396.34;PAIRED=0.869757;PAIREDR=0.918333;PAO=0;PQA=0;PQR=0;PRO=0;QA=12811;QR=18255;RO=600;RPL=369;RPP=392.365;RPPR=520.125;RPR=84;RUN=1;SAF=153;SAP=106.594;SAR=300;SF=0;SRF=205;SRP=133.661;SRR=395;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1620T:p.H540H,CACNB2:NM_201570:exon13:c.C1641T:p.H547H,CACNB2:NM_201590:exon13:c.C1623T:p.H541H,CACNB2:NM_001167945:exon14:c.C1587T:p.H529H,CACNB2:NM_201571:exon14:c.C1701T:p.H567H,CACNB2:NM_201572:exon14:c.C1629T:p.H543H,CACNB2:NM_201593:exon14:c.C1671T:p.H557H,CACNB2:NM_201596:exon14:c.C1785T:p.H595H,CACNB2:NM_201597:exon14:c.C1713T:p.H571H;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00778754;avsnp147=rs61733967;Kaviar_AF=0.002445;Kaviar_AC=378;Kaviar_AN=154602;ExAC_ALL=0.0026;ExAC_AFR=0.0279;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=140351;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0285;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.858e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0271;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.68e-05;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-671.231,0,-1088.63:1090:600:453:12811:18255 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18828630 . AGGGAT AGGGAG,TGGGAT,CGGGAT 97.88 . AB=0;ABP=0;AC=2,0,0;AF=0;AN=10;AO=2;CIGAR=1X;DP=166;DPB=39;DPRA=0;EPP=7.35324;EPPR=45.7942;GTI=0;LEN=1;MEANALT=1;MQM=15.5;MQMR=36.6486;NS=1;NUMALT=1;ODDS=51.202;PAIRED=0.5;PAIREDR=0.972973;PAO=0;PQA=0;PQR=0;PRO=0;QA=35;QR=1123;RO=37;RPL=0;RPP=7.35324;RPPR=52.3673;RPR=2;RUN=1;SAF=0;SAP=7.35324;SAR=2;SF=1;SRF=1;SRP=74.9036;SRR=36;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=CACNB2:NM_000724:exon13:c.1800delT:p.D600fs,CACNB2:NM_201570:exon13:c.1821delT:p.D607fs,CACNB2:NM_201590:exon13:c.1803delT:p.D601fs,CACNB2:NM_001167945:exon14:c.1767delT:p.D589fs,CACNB2:NM_201571:exon14:c.1881delT:p.D627fs,CACNB2:NM_201572:exon14:c.1809delT:p.D603fs,CACNB2:NM_201593:exon14:c.1851delT:p.D617fs,CACNB2:NM_201596:exon14:c.1965delT:p.D655fs,CACNB2:NM_201597:exon14:c.1893delT:p.D631fs;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.A1795T:p.R599W,CACNB2:NM_201570:exon13:c.A1816T:p.R606W,CACNB2:NM_201590:exon13:c.A1798T:p.R600W,CACNB2:NM_001167945:exon14:c.A1762T:p.R588W,CACNB2:NM_201571:exon14:c.A1876T:p.R626W,CACNB2:NM_201572:exon14:c.A1804T:p.R602W,CACNB2:NM_201593:exon14:c.A1846T:p.R616W,CACNB2:NM_201596:exon14:c.A1960T:p.R654W,CACNB2:NM_201597:exon14:c.A1888T:p.R630W;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.75;MutationAssessor_pred=L;FATHMM_score=-1.99;FATHMM_pred=D;PROVEAN_score=-2.26;PROVEAN_pred=N;VEST3_score=0.972;CADD_raw=5.847;CADD_phred=27.3;DANN_score=0.999;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=0.532;MetaSVM_pred=D;MetaLR_score=0.718;MetaLR_pred=D;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.17;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.812;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.A1795C:p.R599R,CACNB2:NM_201570:exon13:c.A1816C:p.R606R,CACNB2:NM_201590:exon13:c.A1798C:p.R600R,CACNB2:NM_001167945:exon14:c.A1762C:p.R588R,CACNB2:NM_201571:exon14:c.A1876C:p.R626R,CACNB2:NM_201572:exon14:c.A1804C:p.R602R,CACNB2:NM_201593:exon14:c.A1846C:p.R616R,CACNB2:NM_201596:exon14:c.A1960C:p.R654R,CACNB2:NM_201597:exon14:c.A1888C:p.R630R;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-91.6187,.,.,.,.:39:37:.,2,.:.,35,.:1123:37,2 . . . 0/0:.,.,.,.,.,-64.7468,.,.,.,.:29:27:.,2,.:.,35,.:807:27,2 . 1/1:-36.7307,-5.93094,0,.,.,.,.,.,.,.:28:2:15,.,.:484,.,.:61:2,15 . . . . 0/0:.,.,.,.,.,-54.8921,.,.,-54.0866,-55.1019:33:29:.,2,2:.,33,40:794:29,2,2 0/0:.,.,.,.,.,.,.,.,.,-80.714:37:34:.,.,2:.,.,31:1053:34,2 . . . chr10 18828635 . T G 288.95 . AB=0.56;ABP=4.57376;AC=45;AF=0.5;AN=74;AO=28;CIGAR=1X;DP=1661;DPB=50;DPRA=0;EPP=4.25114;EPPR=4.58955;GTI=0;LEN=1;MEANALT=1;MQM=24.6071;MQMR=15.0909;NS=1;NUMALT=1;ODDS=7.73118;PAIRED=0.964286;PAIREDR=0.863636;PAO=0;PQA=0;PQR=0;PRO=0;QA=709;QR=575;RO=22;RPL=16;RPP=4.25114;RPPR=9.32731;RPR=12;RUN=1;SAF=4;SAP=34.0313;SAR=24;SF=0;SRF=6;SRP=12.8806;SRR=16;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.T1800G:p.D600E,CACNB2:NM_201570:exon13:c.T1821G:p.D607E,CACNB2:NM_201590:exon13:c.T1803G:p.D601E,CACNB2:NM_001167945:exon14:c.T1767G:p.D589E,CACNB2:NM_201571:exon14:c.T1881G:p.D627E,CACNB2:NM_201572:exon14:c.T1809G:p.D603E,CACNB2:NM_201593:exon14:c.T1851G:p.D617E,CACNB2:NM_201596:exon14:c.T1965G:p.D655E,CACNB2:NM_201597:exon14:c.T1893G:p.D631E;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.1516;esp6500siv2_ea=0.1729;esp6500siv2_all=0.1516;esp6500siv2_ea=0.1729;1000g2015aug_all=0.0970447;avsnp147=rs58225473;Kaviar_AF=0.136467;Kaviar_AC=21098;Kaviar_AN=154602;ExAC_ALL=0.1382;ExAC_AFR=0.1078;ExAC_AMR=0.0738;ExAC_EAS=0.0007;ExAC_FIN=0.1935;ExAC_NFE=0.1826;ExAC_OTH=0.1532;ExAC_SAS=0.0732;CLNALLELEID=140352;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.037;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=-1.82;FATHMM_pred=D;PROVEAN_score=-0.68;PROVEAN_pred=N;VEST3_score=0.192;CADD_raw=2.791;CADD_phred=21.3;DANN_score=0.992;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.989;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=2.76;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.057;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM103389#"Altered_function";gnomAD_exome_ALL=0.1367;gnomAD_exome_AFR=0.1060;gnomAD_exome_AMR=0.0844;gnomAD_exome_ASJ=0.1509;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.1944;gnomAD_exome_NFE=0.1809;gnomAD_exome_OTH=0.1513;gnomAD_exome_SAS=0.0744;gnomAD_genome_ALL=0.1480;gnomAD_genome_AFR=0.1071;gnomAD_genome_AMR=0.1183;gnomAD_genome_ASJ=0.1433;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2027;gnomAD_genome_NFE=0.1766;gnomAD_genome_OTH=0.1645;Whole_Blood=Whole_Blood::0.177374::-0.195853;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . 0/1:-33.8233,0,-10.5275:50:22:28:709:575 0/1:-17.5333,0,-15.8828:28:16:12:334:430 1/1:-106.614,-11.4174,0:57:9:48:1519:189 . . 1/1:-77.8082,-4.10875,0:58:11:47:1259:179 0/1:-29.3994,0,-25.8928:46:23:23:629:610 0/1:-22.8037,0,-25.3517:35:20:15:460:555 1/1:-42.9478,-3.82899,0:43:10:33:815:147 . . 0/1:-19.6048,0,-0.950243:19:7:12:362:229 . . . 0/1:-24.5718,0,-63.4333:87:55:31:787:1462 . 1/1:-46.733,-5.66559,0:26:3:23:661:86 0/1:-11.6483,0,-19.3625:32:18:14:346:417 . 0/1:-14.0952,0,-14.4167:20:10:10:284:288 . . . . 1/1:-107.915,-12.38,0:71:11:60:1695:198 . . 0/1:-18.2422,0,-13.586:39:20:19:443:506 . 0/1:-34.6962,0,-39.3807:54:31:22:652:808 . . . . . 1/1:-63.3331,-7.20165,0:46:9:37:1041:166 . . 0/1:-30.7269,0,-32.4087:45:23:22:608:679 . . 0/1:-13.1462,0,-38.2775:46:34:12:339:984 . 0/1:-33.6777,0,-25.6884:47:21:25:649:656 0/1:-26.5265,0,-17.0545:31:16:14:444:418 . 0/1:-16.4555,0,-49.2644:55:34:21:534:1010 0/1:-24.4944,0,-23.7301:51:27:24:702:692 0/1:-33.5364,0,-12.9538:35:15:20:579:431 . . 0/1:-17.0769,0,-9.91376:22:10:12:349:259 . . . . 0/1:-44.1624,0,-28.777:59:27:32:844:766 . . 0/1:-32.7327,0,-34.2886:51:28:23:667:794 0/1:-6.86332,0,-2.42333:12:7:5:158:160 0/1:-25.6809,0,-23.2573:45:25:20:544:673 0/1:-22.0099,0,-45.4588:59:35:23:598:1033 . . . . . 0/1:-31.7062,0,-20.01:43:21:22:617:555 . . . . 1/1:-53.1889,-2.46298,0:50:12:37:974:181 1/1:-79.4691,-7.43459,0:53:11:41:1217:206 0/1:-19.2956,0,-26.9989:40:24:16:398:704 . . 0/1:-56.8517,0,-0.842949:57:14:43:1241:258 0/1:-20.1654,0,-20.1486:43:25:18:474:619 0/1:-38.6656,0,-23.2101:41:17:24:695:517 . . . 0/1:-28.3629,0,-48.487:65:42:22:644:1148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18828661 . CCG CCT 113.32 . AB=0;ABP=0;AC=6;AF=1;AN=6;AO=16;CIGAR=2M1X;DP=67;DPB=27.6667;DPRA=0;EPP=22.5536;EPPR=0;GTI=0;LEN=1;MEANALT=8;MQM=16.6875;MQMR=0;NS=1;NUMALT=1;ODDS=26.2991;PAIRED=0.875;PAIREDR=0;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=294;QR=0;RO=0;RPL=7;RPP=3.55317;RPPR=0;RPR=9;RUN=1;SAF=5;SAP=7.89611;SAR=11;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:c.*10delG,NM_201597:c.*10delG,NM_201596:c.*10delG,NM_201572:c.*10delG,NM_201571:c.*10delG,NM_001167945:c.*10delG,NM_000724:c.*10delG,NM_201590:c.*10delG,NM_201570:c.*10delG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs367928065;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=2.624e-05;ExAC_AFR=0;ExAC_AMR=8.767e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.196e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=315022;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 1/1:-16.0931,-5.41854,0:27:0:16:294:0 . . . . . . . . . . . 1/1:-18.5475,-3.4039,0:25:1:16:389:21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-10.5528,-6.62266,0:15:0:12:274:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18828662 . CG CT 202.66 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=26;CIGAR=1M1X;DP=74;DPB=38;DPRA=0;EPP=8.35546;EPPR=7.35324;GTI=0;LEN=1;MEANALT=6;MQM=17.0769;MQMR=33;NS=1;NUMALT=1;ODDS=36.6684;PAIRED=0.961538;PAIREDR=0.5;PAO=1;PQA=32;PQR=32;PRO=1;QA=593;QR=31;RO=2;RPL=11;RPP=4.34659;RPPR=3.0103;RPR=15;RUN=1;SAF=2;SAP=43.4331;SAR=24;SF=0;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:c.*10delG,NM_201597:c.*10delG,NM_201596:c.*10delG,NM_201572:c.*10delG,NM_201571:c.*10delG,NM_001167945:c.*10delG,NM_000724:c.*10delG,NM_201590:c.*10delG,NM_201570:c.*10delG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs367928065;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=2.624e-05;ExAC_AFR=0;ExAC_AMR=8.767e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.196e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=315022;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-26.7263,-6.86943,0:37:2:26:593:31 . . . . . . . . . . . . . . . . . . . . . 1/1:-28.3246,-8.994,0:37:1:30:496:14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18828663 . G T 169.65 . AB=0;ABP=0;AC=107;AF=1;AN=120;AO=25;CIGAR=1X;DP=1648;DPB=27;DPRA=0;EPP=28.1125;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=14.8;MQMR=23.5;NS=1;NUMALT=1;ODDS=31.0343;PAIRED=0.72;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=528;QR=41;RO=2;RPL=13;RPP=3.09716;RPPR=7.35324;RPR=12;RUN=1;SAF=9;SAP=7.26639;SAR=16;SF=0;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:c.*10G>T,NM_201597:c.*10G>T,NM_201596:c.*10G>T,NM_201572:c.*10G>T,NM_201571:c.*10G>T,NM_001167945:c.*10G>T,NM_000724:c.*10G>T,NM_201590:c.*10G>T,NM_201570:c.*10G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.774361;avsnp147=rs4747352;Kaviar_AF=0.706356;Kaviar_AC=109204;Kaviar_AN=154602;ExAC_ALL=0.7881;ExAC_AFR=0.6709;ExAC_AMR=0.7675;ExAC_EAS=0.9723;ExAC_FIN=0.7810;ExAC_NFE=0.7877;ExAC_OTH=0.7929;ExAC_SAS=0.7740;CLNALLELEID=212763;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7818;gnomAD_exome_AFR=0.6624;gnomAD_exome_AMR=0.7617;gnomAD_exome_ASJ=0.7351;gnomAD_exome_EAS=0.9737;gnomAD_exome_FIN=0.7711;gnomAD_exome_NFE=0.7836;gnomAD_exome_OTH=0.7670;gnomAD_exome_SAS=0.7721;gnomAD_genome_ALL=0.7626;gnomAD_genome_AFR=0.6705;gnomAD_genome_AMR=0.7626;gnomAD_genome_ASJ=0.7114;gnomAD_genome_EAS=0.9727;gnomAD_genome_FIN=0.7508;gnomAD_genome_NFE=0.7942;gnomAD_genome_OTH=0.7826;Whole_Blood=Whole_Blood::0.221264::0.406028;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 1/1:-21.7524,-4.78831,0:27:2:25:528:41 . 1/1:-28.1161,-9.5862,0:35:2:33:637:28 . 1/1:-20.9779,-4.3175,0:30:5:25:538:77 . . 1/1:-41.6734,-8.74274,0:42:2:38:775:41 . . 1/1:-31.7007,-8.99288,0:37:1:31:578:14 1/1:-16.3266,-4.62165,0:20:1:19:372:14 . 1/1:-6.35483,-1.41573,0:10:1:8:188:14 1/1:-18.8336,-5.60491,0:21:1:20:428:14 0/1:-9.04413,0,-17.0786:37:21:16:357:575 . 1/1:-43.5964,-9.74276,0:60:6:47:931:84 1/1:-24.6888,-7.82808,0:27:1:26:627:32 1/1:-9.22262,-2.38771,0:13:1:11:169:14 . 1/1:-20.3313,-4.81648,0:16:0:16:401:0 . 1/1:-21.5182,-3.89638,0:19:2:16:325:28 0/1:-11.2672,0,-7.43011:32:15:17:368:356 . 1/1:-15.3602,-4.14978,0:19:1:17:385:14 1/1:-46.7721,-10.2803,0:52:5:47:1012:70 1/1:-14.7206,-4.21442,0:15:0:14:356:0 1/1:-9.51466,-1.60213,0:14:2:12:292:28 1/1:-24.0055,-4.74533,0:31:3:28:589:55 1/1:-33.0393,-8.19985,0:30:1:27:568:14 1/1:-24.21,-7.22472,0:24:0:24:434:0 0/1:-7.56865,0,-2.77641:17:6:11:216:156 0/1:-14.2575,0,-10.1396:34:14:20:373:310 . 0/1:-10.7169,0,-6.29097:20:10:10:281:236 1/1:-35.1377,-8.61521,0:31:1:30:607:14 1/1:-25.1656,-7.21393,0:29:1:27:521:14 0/1:-8.66226,0,-0.146014:21:5:14:260:105 . 1/1:-22.3507,-2.32719,0:28:4:23:476:81 1/1:-24.513,-6.25,0:35:3:30:645:42 . . . 1/1:-23.7928,-7.22472,0:24:0:24:508:0 0/1:-12.7054,0,-3.5173:22:9:13:266:164 . 1/1:-40.6488,-9.00106,0:36:1:33:791:14 0/1:-12.6632,0,-1.14936:35:11:24:436:251 1/1:-12.4585,-2.31919,0:13:1:11:212:14 0/1:-10.4767,0,-6.04293:23:10:12:261:231 . . . . . 1/1:-10.1138,-2.58307,0:20:3:16:301:64 . 1/1:-10.8682,-3.0103,0:13:0:10:219:0 1/1:-23.8648,-7.22472,0:25:0:24:492:0 . . 0/1:-14.0636,0,-2.61405:34:12:21:433:240 1/1:-34.4766,-7.1239,0:37:3:34:652:68 . 0/1:-11.6323,0,-8.402:28:13:15:334:255 1/1:-27.6425,-6.14346,0:32:4:28:609:63 1/1:-32.3142,-7.28472,0:42:5:36:685:70 . 1/1:-30.281,-7.51542,0:32:2:28:563:35 1/1:-38.7228,-7.64678,0:28:1:27:633:21 1/1:-12.987,-3.27249,0:15:1:12:243:14 1/1:-19.0146,-5.01345,0:22:2:19:377:35 1/1:-45.8207,-9.28861,0:37:3:34:742:55 1/1:-35.7194,-9.29657,0:37:1:32:600:14 1/1:-32.3312,-9.0309,0:31:0:30:593:0 1/1:-22.9532,-7.22472,0:24:0:24:562:0 0/1:-5.64209,0,-2.61631:11:6:5:135:97 . . 1/1:-28.8959,-8.06238,0:40:2:37:695:41 1/1:-23.3255,-3.73728,0:21:2:19:475:28 0/1:-10.375,0,-0.367676:29:8:20:411:166 1/1:-25.6271,-4.73126,0:26:2:22:476:28 . 1/1:-41.9645,-8.92461,0:42:5:36:772:70 1/1:-17.5137,-3.4563,0:16:1:15:324:14 . . . . 1/1:-27.5463,-8.12781,0:27:0:27:502:0 . . . . . . . . . . . . . . . . . . . . . . chr10 18828666 . TGTGTTTTTTTTTTTTTTTTTTTGAAGTC GGTGTTTTTTTTTTTTTTTTTTGAAGTC 167.29 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1;CIGAR=1X3M1D24M;DP=18;DPB=18.1379;DPRA=0;EPP=5.18177;EPPR=0;GTI=0;LEN=28;MEANALT=10;MQM=23;MQMR=0;NS=1;NUMALT=1;ODDS=2.5781;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=14.0667;PRO=0.516667;QA=23;QR=0;RO=0;RPL=1;RPP=5.18177;RPPR=0;RPR=0;RUN=1;SAF=0;SAP=5.18177;SAR=1;SF=1;SRF=0;SRP=0;SRR=0;TYPE=complex;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:c.*13_*17delinsGGTG,NM_201597:c.*13_*17delinsGGTG,NM_201596:c.*13_*17delinsGGTG,NM_201572:c.*13_*17delinsGGTG,NM_201571:c.*13_*17delinsGGTG,NM_001167945:c.*13_*17delinsGGTG,NM_000724:c.*13_*17delinsGGTG,NM_201590:c.*13_*17delinsGGTG,NM_201570:c.*13_*17delinsGGTG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-17.6007,-22.1202,0:18:0:1:23:0:0,1 . . . . . . . . . . . . . . . . . . . chr10 18828669 . GTTTTTTTTTTTTTTTTTTTG GTTTTTTTTTTTTTTTTG,GCTTTTTTTTTTTTTTTTTTG 65.64 . AB=0;ABP=0;AC=2,2;AF=1;AN=4;AO=7;CIGAR=1M1X1M;DP=58;DPB=24;DPRA=0;EPP=10.7656;EPPR=7.35324;GTI=0;LEN=1;MEANALT=8;MQM=20;MQMR=22.5;NS=1;NUMALT=1;ODDS=7.69239;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=107;QR=40;RO=2;RPL=4;RPP=3.32051;RPPR=7.35324;RPR=3;RUN=1;SAF=3;SAP=3.32051;SAR=4;SF=0;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:c.*17_*19delTTT,NM_201597:c.*17_*19delTTT,NM_201596:c.*17_*19delTTT,NM_201572:c.*17_*19delTTT,NM_201571:c.*17_*19delTTT,NM_001167945:c.*17_*19delTTT,NM_000724:c.*17_*19delTTT,NM_201590:c.*17_*19delTTT,NM_201570:c.*17_*19delTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs766355351;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;ExAC_ALL=0.1166;ExAC_AFR=0.0979;ExAC_AMR=0.2240;ExAC_EAS=0.1749;ExAC_FIN=0.1117;ExAC_NFE=0.0747;ExAC_OTH=0.1061;ExAC_SAS=0.1755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1155;gnomAD_exome_AFR=0.0878;gnomAD_exome_AMR=0.1895;gnomAD_exome_ASJ=0.0825;gnomAD_exome_EAS=0.1508;gnomAD_exome_FIN=0.1219;gnomAD_exome_NFE=0.0738;gnomAD_exome_OTH=0.0953;gnomAD_exome_SAS=0.1901;gnomAD_genome_ALL=0.0230;gnomAD_genome_AFR=0.0158;gnomAD_genome_AMR=0.1090;gnomAD_genome_ASJ=0.0720;gnomAD_genome_EAS=0.0839;gnomAD_genome_FIN=0.0812;gnomAD_genome_NFE=0.0085;gnomAD_genome_OTH=0.0674;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:c.*17T>C,NM_201597:c.*17T>C,NM_201596:c.*17T>C,NM_201572:c.*17T>C,NM_201571:c.*17T>C,NM_001167945:c.*17T>C,NM_000724:c.*17T>C,NM_201590:c.*17T>C,NM_201570:c.*17T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0756789;avsnp147=rs58830289;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;ExAC_ALL=0.2592;ExAC_AFR=0.1929;ExAC_AMR=0.1986;ExAC_EAS=0.0690;ExAC_FIN=0.1985;ExAC_NFE=0.2713;ExAC_OTH=0.2701;ExAC_SAS=0.2688;CLNALLELEID=321059;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0733;gnomAD_exome_AFR=0.0263;gnomAD_exome_AMR=0.0528;gnomAD_exome_ASJ=0.0880;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1253;gnomAD_exome_NFE=0.0916;gnomAD_exome_OTH=0.0904;gnomAD_exome_SAS=0.0419;gnomAD_genome_ALL=0.1509;gnomAD_genome_AFR=0.0703;gnomAD_genome_AMR=0.1388;gnomAD_genome_ASJ=0.1609;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.2423;gnomAD_genome_NFE=0.1957;gnomAD_genome_OTH=0.1751;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2/2:.,.,.,.,.,0:25:2:.,7:.,107:40 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-7.28822,-3.23382,0,.,.,.:33:2:8,.:105,.:53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 18828670 . T C 44.51 . AB=0.342105;ABP=11.239;AC=2;AF=0.5;AN=4;AO=13;CIGAR=1X;DP=58;DPB=38;DPRA=0;EPP=11.1951;EPPR=24.5973;GTI=0;LEN=1;MEANALT=3;MQM=15.6923;MQMR=23;NS=1;NUMALT=1;ODDS=8.92899;PAIRED=0.923077;PAIREDR=0.882353;PAO=0;PQA=0;PQR=0;PRO=0;QA=309;QR=300;RO=17;RPL=8;RPP=4.51363;RPPR=24.5973;RPR=5;RUN=1;SAF=5;SAP=4.51363;SAR=8;SF=0;SRF=0;SRP=39.9253;SRR=17;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201593:c.*17T>C,NM_201597:c.*17T>C,NM_201596:c.*17T>C,NM_201572:c.*17T>C,NM_201571:c.*17T>C,NM_001167945:c.*17T>C,NM_000724:c.*17T>C,NM_201590:c.*17T>C,NM_201570:c.*17T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0756789;avsnp147=rs58830289;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;ExAC_ALL=0.2592;ExAC_AFR=0.1929;ExAC_AMR=0.1986;ExAC_EAS=0.0690;ExAC_FIN=0.1985;ExAC_NFE=0.2713;ExAC_OTH=0.2701;ExAC_SAS=0.2688;CLNALLELEID=321059;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0733;gnomAD_exome_AFR=0.0263;gnomAD_exome_AMR=0.0528;gnomAD_exome_ASJ=0.0880;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1253;gnomAD_exome_NFE=0.0916;gnomAD_exome_OTH=0.0904;gnomAD_exome_SAS=0.0419;gnomAD_genome_ALL=0.1509;gnomAD_genome_AFR=0.0703;gnomAD_genome_AMR=0.1388;gnomAD_genome_ASJ=0.1609;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.2423;gnomAD_genome_NFE=0.1957;gnomAD_genome_OTH=0.1751;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-6.3804,0,-10.1602:38:17:13:309:300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-3.12749,0,-3.50111:20:12:6:115:226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21074724 . T C 2634.73 . AB=0.506803;ABP=3.12848;AC=22;AF=0.5;AN=42;AO=149;CIGAR=1X;DP=6722;DPB=294;DPRA=0;EPP=29.957;EPPR=33.4739;GTI=0;LEN=1;MEANALT=3;MQM=37.8322;MQMR=38.2681;NS=1;NUMALT=1;ODDS=563.68;PAIRED=0.932886;PAIREDR=0.927536;PAO=0;PQA=0;PQR=0;PRO=0;QA=4185;QR=4261;RO=138;RPL=25;RPP=145.847;RPPR=63.4968;RPR=124;RUN=1;SAF=76;SAP=3.14146;SAR=73;SF=0,1;SRF=77;SRP=7.03854;SRR=61;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;1000g2015aug_all=0.0666933;avsnp147=rs2296614;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;ExAC_ALL=0.0779;ExAC_AFR=0.1195;ExAC_AMR=0.1618;ExAC_EAS=0.0008;ExAC_FIN=0.0569;ExAC_NFE=0.0737;ExAC_OTH=0.0839;ExAC_SAS=0.0585;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0799;gnomAD_exome_AFR=0.1219;gnomAD_exome_AMR=0.1558;gnomAD_exome_ASJ=0.0959;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0734;gnomAD_exome_OTH=0.0815;gnomAD_exome_SAS=0.0583;gnomAD_genome_ALL=0.0830;gnomAD_genome_AFR=0.1155;gnomAD_genome_AMR=0.1360;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0510;gnomAD_genome_NFE=0.0776;gnomAD_genome_OTH=0.0743;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-269.262,0,-269.318:294:138:149:4185:4261 . . . . . . . . . . . . . . . . . 0/1:-320.15,0,-366.384:378:186:181:5159:5826 0/1:-224.744,0,-202.751:231:103:121:3506:3267 . . . . . . . . . . 0/1:-198.664,0,-321.804:285:156:121:3310:4888 . . . . . . . 0/1:-187.233,0,-283.81:279:149:121:3334:4437 . . . . . . . 0/1:-258.095,0,-291.132:294:146:142:4037:4539 . 0/1:-188.209,0,-299.278:259:142:108:3084:4412 . . . . . . . . . . . . 0/1:-350.276,0,-478.497:448:237:201:5606:7220 0/1:-430.299,0,-311.09:387:165:215:6365:5032 . . . 1/1:-310.039,-35.893,0:165:5:148:3999:163 . . . 0/1:-285.599,0,-379.788:349:186:155:4518:5676 . . . . 0/1:-424.706,0,-503.583:480:237:230:6556:7672 . . . . 0/1:-317.985,0,-263.056:336:141:182:4891:4310 . . 0/1:-261.273,0,-362.536:354:186:159:4339:5757 . . . 0/1:-363.289,0,-429.6:440:223:208:5823:6637 . 0/1:-168.318,0,-317.091:273:160:105:2934:4829 0/1:-424.79,0,-367.415:442:190:239:6665:5915 . 0/1:-250.048,0,-347.15:333:171:149:4046:5254 . . . 0/1:-341.61,0,-287.418:303:136:160:4952:4432:136,160 . . . . . . . . . . . . . 0/1:-290.87,0,-161.385:214:81:130:4059:2641:81,130 . . . . 0/1:-162.584,0,-196.063:178:91:84:2537:2922:91,84 chr10 21076100 . C A 6162.29 . AB=0.46077;ABP=12.3808;AC=3;AF=0.5;AN=6;AO=323;CIGAR=1X;DP=2083;DPB=701;DPRA=0;EPP=3.17837;EPPR=3.1042;GTI=0;LEN=1;MEANALT=3;MQM=37.743;MQMR=39.1243;NS=1;NUMALT=1;ODDS=1184.1;PAIRED=0.965944;PAIREDR=0.951351;PAO=0;PQA=0;PQR=0;PRO=0;QA=8919;QR=10860;RO=370;RPL=90;RPP=140.485;RPPR=76.6291;RPR=233;RUN=1;SAF=167;SAP=3.82376;SAR=156;SF=0;SRF=178;SRP=4.16059;SRR=192;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.1459;esp6500siv2_ea=0.0238;esp6500siv2_all=0.1459;esp6500siv2_ea=0.0238;1000g2015aug_all=0.221845;avsnp147=rs2296606;Kaviar_AF=0.0824698;Kaviar_AC=12750;Kaviar_AN=154602;ExAC_ALL=0.1148;ExAC_AFR=0.4295;ExAC_AMR=0.1477;ExAC_EAS=0.2584;ExAC_FIN=0.0299;ExAC_NFE=0.0298;ExAC_OTH=0.0931;ExAC_SAS=0.1289;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1245;dpsi_zscore=0.553;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0821;gnomAD_exome_AFR=0.4070;gnomAD_exome_AMR=0.0992;gnomAD_exome_ASJ=0.0241;gnomAD_exome_EAS=0.2174;gnomAD_exome_FIN=0.0250;gnomAD_exome_NFE=0.0213;gnomAD_exome_OTH=0.0611;gnomAD_exome_SAS=0.1105;gnomAD_genome_ALL=0.1396;gnomAD_genome_AFR=0.3977;gnomAD_genome_AMR=0.1086;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.2167;gnomAD_genome_FIN=0.0255;gnomAD_genome_NFE=0.0177;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-536.803,0,-714.388:701:370:323:8919:10860 0/1:-716.23,0,-796.731:751:385:363:10921:11950 . . . . . . . . . . . 0/1:-647.042,0,-636.049:631:311:319:9830:9818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21101816 . G A 12127.20 . AB=0.453283;ABP=33.038;AC=1;AF=0.5;AN=2;AO=718;CIGAR=1X;DP=1584;DPB=1584;DPRA=0;EPP=86.3489;EPPR=165.962;GTI=0;LEN=1;MEANALT=3;MQM=39.2632;MQMR=39.5068;NS=1;NUMALT=1;ODDS=2792.4;PAIRED=0.962396;PAIREDR=0.948339;PAO=0;PQA=0;PQR=0;PRO=0;QA=20332;QR=22976;RO=813;RPL=180;RPP=390.621;RPPR=449.807;RPR=538;RUN=1;SAF=324;SAP=17.8295;SAR=394;SF=0;SRF=377;SRP=12.3078;SRR=436;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_001173484:exon5:c.C411T:p.V137V,NEBL:NM_213569:exon5:c.C411T:p.V137V,NEBL:NM_006393:exon24:c.C2400T:p.V800V;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs773030246;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=2.476e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.001e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1000;dpsi_zscore=-0.449;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.22e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.817e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1272.64,0,-1507.79:1584:813:718:20332:22976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21106525 . A G 8044.33 . AB=0.449845;ABP=24.1389;AC=1;AF=0.5;AN=2;AO=435;CIGAR=1X;DP=967;DPB=967;DPRA=0;EPP=3.41464;EPPR=4.24322;GTI=0;LEN=1;MEANALT=3;MQM=39.7011;MQMR=39.5363;NS=1;NUMALT=1;ODDS=1852.27;PAIRED=0.958621;PAIREDR=0.968566;PAO=0;PQA=0;PQR=0;PRO=0;QA=12907;QR=16010;RO=509;RPL=161;RPP=66.7518;RPPR=136.665;RPR=274;RUN=1;SAF=247;SAP=20.3871;SAR=188;SF=0;SRF=291;SRP=25.7446;SRR=218;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000798722;avsnp147=rs193163659;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=9.614e-05;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=174903;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.1458;dpsi_zscore=-1.945;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.81e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-821.743,0,-1078.3:967:509:435:12907:16010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21108377 . C T 7202.74 . AB=0.482337;ABP=5.00475;AC=44;AF=0.5;AN=80;AO=355;CIGAR=1X;DP=29775;DPB=736;DPRA=0;EPP=3.06535;EPPR=4.03825;GTI=0;LEN=1;MEANALT=3;MQM=38.9352;MQMR=38.5574;NS=1;NUMALT=1;ODDS=1470.78;PAIRED=0.980282;PAIREDR=0.957983;PAO=0;PQA=0;PQR=0;PRO=0;QA=10125;QR=11144;RO=357;RPL=204;RPP=20.1925;RPPR=25.6435;RPR=151;RUN=1;SAF=147;SAP=25.771;SAR=208;SF=0,1;SRF=147;SRP=27.152;SRR=210;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon20:c.G2031A:p.R677R;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.2211;esp6500siv2_ea=0.2952;esp6500siv2_all=0.2211;esp6500siv2_ea=0.2952;1000g2015aug_all=0.183706;avsnp147=rs1006363;Kaviar_AF=0.237397;Kaviar_AC=36702;Kaviar_AN=154602;ExAC_ALL=0.2477;ExAC_AFR=0.0646;ExAC_AMR=0.1583;ExAC_EAS=0.2342;ExAC_FIN=0.3812;ExAC_NFE=0.2958;ExAC_OTH=0.2489;ExAC_SAS=0.1847;CLNALLELEID=54655;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.3720;dpsi_zscore=2.080;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2481;gnomAD_exome_AFR=0.0619;gnomAD_exome_AMR=0.1658;gnomAD_exome_ASJ=0.1998;gnomAD_exome_EAS=0.2276;gnomAD_exome_FIN=0.3723;gnomAD_exome_NFE=0.2986;gnomAD_exome_OTH=0.2381;gnomAD_exome_SAS=0.1861;gnomAD_genome_ALL=0.2366;gnomAD_genome_AFR=0.0626;gnomAD_genome_AMR=0.1790;gnomAD_genome_ASJ=0.1656;gnomAD_genome_EAS=0.2189;gnomAD_genome_FIN=0.3909;gnomAD_genome_NFE=0.3057;gnomAD_genome_OTH=0.2818;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-650.405,0,-705.216:736:357:355:10125:11144 0/1:-459.002,0,-514.029:557:265:265:7447:7931 . . . 0/1:-700.506,0,-774.487:774:381:373:10842:11753 . 0/1:-831.582,0,-1015.96:1028:508:482:13173:15671 0/1:-555.943,0,-787.833:731:397:319:9119:12002 1/1:-1800.09,-195.427,0:808:14:763:21677:437 . . . . 1/1:-1508.62,-184.598,0:707:10:668:18258:263 . . 0/1:-441.199,0,-431.095:496:225:251:6939:6776 0/1:-456.116,0,-692.706:638:345:273:7475:10490 . . . . . 0/1:-563.035,0,-848.068:721:398:309:8999:12576 . 0/1:-500.37,0,-528.987:610:283:301:8140:8348 . . 0/1:-801.124,0,-1144.41:1050:559:470:13046:17224 . 0/1:-333.768,0,-441.973:434:221:189:5523:6741 1/1:-1691.94,-204.521,0:738:4:712:20170:125 0/1:-618.958,0,-991.23:889:488:379:10336:14802 . 1/1:-1986.47,-240.172,0:871:8:839:23665:178 . . . . . . 0/1:-966.015,0,-973.117:1044:492:521:14798:15062 . . 0/1:-355.353,0,-423.219:422:211:194:5733:6505 0/1:-427.721,0,-611.719:565:300:248:7088:9256 0/1:-715.515,0,-1097.62:946:519:412:11830:16186 . 0/1:-699.798,0,-729.574:837:396:415:11393:11710 . . . . . . . . . 0/1:-860.637,0,-961.19:985:476:477:13404:14761 . . . . 0/1:-414.892,0,-380.354:453:209:230:6357:6205 . 0/1:-530.047,0,-544.549:592:279:292:8239:8497 . . . . . . . 0/1:-618.086,0,-861.284:798:425:356:10163:13063 . . 0/1:-398.726,0,-568.315:538:286:232:6612:8525 . 0/1:-698.172,0,-961.213:914:485:400:11293:14597 0/1:-663.882,0,-890.012:842:428:390:10882:13442 . . 0/1:-637.36,0,-676.715:729:343:363:10164:10421 0/1:-470.673,0,-558.818:569:277:262:7477:8611 . . 0/1:-563.239,0,-734.79:713:368:322:9082:11244 0/1:-860.837,0,-1095.52:1065:553:486:13912:16596 . . 0/1:-651.305,0,-734.225:735:357:355:10100:11135 . . . . . . . 0/1:-823.45,0,-919.217:878:431:431:12559:13680:431,431 . 0/1:-712.091,0,-788.357:764:384:356:10829:11771:384,356 0/1:-743.882,0,-847.464:808:400:379:11423:12553:400,379 . . . 0/1:-721.41,0,-729.43:716:350:355:10756:10926:350,355 0/1:-710.132,0,-743.336:710:346:346:10674:10995:346,346 . . . 0/1:-608.142,0,-868.626:725:390:314:9560:12403:390,314 . 0/1:-609.288,0,-722.24:639:328:298:9291:10413:328,298 chr10 21112111 . A T 8707.59 . AB=0;ABP=0;AC=64;AF=1;AN=110;AO=1053;CIGAR=1X;DP=41239;DPB=1073;DPRA=0;EPP=4.29916;EPPR=12.2676;GTI=0;LEN=1;MEANALT=2;MQM=40.9364;MQMR=38.6842;NS=1;NUMALT=1;ODDS=1318.32;PAIRED=0.987654;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=30337;QR=443;RO=19;RPL=395;RPP=145.649;RPPR=8.61041;RPR=658;RUN=1;SAF=663;SAP=156.702;SAR=390;SF=0,1;SRF=12;SRP=5.8675;SRR=7;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.1945;esp6500siv2_ea=0.2187;esp6500siv2_all=0.1945;esp6500siv2_ea=0.2187;1000g2015aug_all=0.302117;avsnp147=rs11012353;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;ExAC_ALL=0.3235;ExAC_AFR=0.2168;ExAC_AMR=0.2654;ExAC_EAS=0.5266;ExAC_FIN=0.2365;ExAC_NFE=0.3146;ExAC_OTH=0.2891;ExAC_SAS=0.3921;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2481;dpsi_zscore=-0.773;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2940;gnomAD_exome_AFR=0.1889;gnomAD_exome_AMR=0.2543;gnomAD_exome_ASJ=0.3002;gnomAD_exome_EAS=0.4985;gnomAD_exome_FIN=0.2220;gnomAD_exome_NFE=0.2795;gnomAD_exome_OTH=0.2875;gnomAD_exome_SAS=0.3717;gnomAD_genome_ALL=0.2580;gnomAD_genome_AFR=0.1968;gnomAD_genome_AMR=0.2494;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.5119;gnomAD_genome_FIN=0.2186;gnomAD_genome_NFE=0.2738;gnomAD_genome_OTH=0.2678;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2611.86,-284.295,0:1073:19:1053:30337:443 . 0/1:-600.445,0,-583.492:640:307:333:9092:8909 . . 0/1:-819.742,0,-704.285:832:389:443:12254:10997 . 0/1:-766.425,0,-725.428:790:382:407:11435:11017 . 0/1:-684.017,0,-883.085:846:463:382:10792:13077 . 1/1:-1958.94,-215.28,0:830:19:811:23017:406 0/1:-655.864,0,-815.803:796:427:367:10252:12026 . . . 1/1:-3762.23,-398.337,0:1587:38:1544:43941:892 0/1:-788.396,0,-891.859:885:458:427:12270:13291 . 0/1:-613.757,0,-685.31:718:371:343:9522:10423 0/1:-891.154,0,-1086.28:1046:567:477:13817:16152 0/1:-606.017,0,-644.63:688:354:333:9476:9791 0/1:-1034.74,0,-946.512:1039:506:533:15519:14556 . . 0/1:-892.759,0,-731.359:903:409:494:13465:11440 0/1:-890.199,0,-911.064:962:489:470:13655:13818 . . . . . 0/1:-378.74,0,-486.371:460:248:212:5969:7101 . 0/1:-858.206,0,-984.168:994:514:480:13348:14739 . . 0/1:-919.391,0,-705.092:884:395:489:13655:11201 . 0/1:-1163.88,0,-925.197:1111:507:601:17136:14419 1/1:-1829.71,-193.065,0:793:20:770:21624:525 . 0/1:-853.958,0,-857.073:941:482:459:13110:13060 0/1:-1074.55,0,-1274.34:1256:664:589:16786:18872 . 0/1:-819.832,0,-836.608:906:451:454:12588:12791 0/1:-441.665,0,-379.629:458:215:243:6663:5956 . 0/1:-907.932,0,-1003.71:1029:529:497:13981:15029 . . 0/1:-1071.4,0,-986.912:1120:532:584:16126:15169 . . 0/1:-644.502,0,-682.096:695:345:350:9829:10200 0/1:-887.443,0,-891.651:953:482:471:13522:13593 0/1:-528.439,0,-702.052:660:357:303:8419:10430 . . 1/1:-1685.27,-194.306,0:705:13:691:19623:222 . . 1/1:-1934.74,-218.468,0:798:11:787:22521:251 . . . . 0/1:-606.074,0,-583.272:656:315:339:9196:8945 0/1:-773.845,0,-863.096:898:459:431:12014:13046 . . 0/1:-1151.14,0,-934.649:1092:494:597:16891:14457 . 0/1:-752.688,0,-887.146:872:465:407:11694:13193 0/1:-1011.19,0,-895.406:1029:489:538:15228:13768 0/1:-761.731,0,-995.072:936:511:422:12032:14552 . 0/1:-633.761,0,-529.913:629:297:330:9531:8232 . . . . 0/1:-864.82,0,-960.114:990:508:482:13370:14531 0/1:-681.711,0,-663.79:774:372:402:10534:10316 . . 0/1:-951.43,0,-1050.44:1085:576:509:14658:15865 1/1:-1206.9,-138.265,0:520:10:508:14161:216 . . . 0/1:-955.86,0,-966.218:1026:520:505:14512:14718 0/1:-740.646,0,-862.225:866:451:412:11494:12829 1/1:-2410.92,-271.934,0:995:13:982:27959:332 . 0/1:-83.6708,0,-157.914:119:74:44:1352:2229:74,44 0/1:-164.164,0,-132.71:141:68:73:2370:1983:68,73 0/1:-186.145,0,-183.026:179:87:92:2891:2720:87,92 . . 0/1:-191.416,0,-210.924:191:103:88:2853:3154:103,88 0/1:-175.932,0,-117.035:145:64:81:2505:1848:64,81 . 0/1:-118.902,0,-183.25:142:82:60:1859:2574:82,60 . . 1/1:-312.134,-28.5802,0:121:3:118:3656:86:3,118 . . 0/1:-129.366,0,-104.746:123:55:68:1971:1612:55,68 . 0/1:-186.452,0,-150.223:166:76:89:2739:2266:76,89 . 0/1:-169.647,0,-132.714:146:69:77:2427:1999:69,77 . chr10 21112137 . A T 8516.24 . AB=0.466667;ABP=13.7229;AC=5;AF=0.5;AN=10;AO=518;CIGAR=1X;DP=4461;DPB=1110;DPRA=0;EPP=80.5461;EPPR=66.0638;GTI=0;LEN=1;MEANALT=2;MQM=40.5328;MQMR=40.5364;NS=1;NUMALT=1;ODDS=2279.55;PAIRED=0.972973;PAIREDR=0.98308;PAO=0;PQA=0;PQR=0;PRO=0;QA=15575;QR=18455;RO=591;RPL=168;RPP=141.867;RPPR=82.4068;RPR=350;RUN=1;SAF=247;SAP=5.42491;SAR=271;SF=0;SRF=290;SRP=3.45488;SRR=301;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon19:c.T1962A:p.N654K;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0800;esp6500siv2_ea=0.0224;esp6500siv2_all=0.0800;esp6500siv2_ea=0.0224;1000g2015aug_all=0.124601;avsnp147=rs4748728;Kaviar_AF=0.0565517;Kaviar_AC=8743;Kaviar_AN=154602;ExAC_ALL=0.0606;ExAC_AFR=0.2019;ExAC_AMR=0.0724;ExAC_EAS=0.1231;ExAC_FIN=0.0269;ExAC_NFE=0.0231;ExAC_OTH=0.0552;ExAC_SAS=0.0941;CLNALLELEID=54654;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.032;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=0.070;MutationTaster_pred=P;MutationAssessor_score=2.18;MutationAssessor_pred=M;FATHMM_score=0.89;FATHMM_pred=T;PROVEAN_score=-1.88;PROVEAN_pred=N;VEST3_score=0.07;CADD_raw=2.904;CADD_phred=21.9;DANN_score=0.993;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.84;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.959;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.031;GDI_full_10282015=.;dpsi_max_tissue=0.1618;dpsi_zscore=0.644;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0559;gnomAD_exome_AFR=0.2009;gnomAD_exome_AMR=0.0717;gnomAD_exome_ASJ=0.0162;gnomAD_exome_EAS=0.1164;gnomAD_exome_FIN=0.0279;gnomAD_exome_NFE=0.0216;gnomAD_exome_OTH=0.0460;gnomAD_exome_SAS=0.0903;gnomAD_genome_ALL=0.0728;gnomAD_genome_AFR=0.1864;gnomAD_genome_AMR=0.0621;gnomAD_genome_ASJ=0.0133;gnomAD_genome_EAS=0.0976;gnomAD_genome_FIN=0.0284;gnomAD_genome_NFE=0.0187;gnomAD_genome_OTH=0.0368;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1021.26,0,-1263.89:1110:591:518:15575:18455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-654.664,0,-795.583:803:414:386:10501:11945 0/1:-931.815,0,-909.031:912:440:470:13836:13604 . . . . 0/1:-924.087,0,-657.759:804:342:457:13341:10371 . . . . . . 0/1:-851.244,0,-834.151:832:407:423:12671:12447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21115347 . A G 3546.10 . AB=0.549199;ABP=12.1981;AC=5;AF=0.5;AN=10;AO=240;CIGAR=1X;DP=1809;DPB=437;DPRA=0;EPP=6.62942;EPPR=4.4005;GTI=0;LEN=1;MEANALT=3;MQM=39.825;MQMR=40.7778;NS=1;NUMALT=1;ODDS=854.433;PAIRED=0.991667;PAIREDR=0.989418;PAO=0;PQA=0;PQR=0;PRO=0;QA=7263;QR=5883;RO=189;RPL=95;RPP=25.6298;RPPR=6.3307;RPR=145;RUN=1;SAF=151;SAP=37.79;SAR=89;SF=0;SRF=104;SRP=7.15793;SRR=85;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0093;esp6500siv2_ea=0.0131;esp6500siv2_all=0.0093;esp6500siv2_ea=0.0131;1000g2015aug_all=0.00559105;avsnp147=rs71578946;Kaviar_AF=0.0096635;Kaviar_AC=1494;Kaviar_AN=154602;ExAC_ALL=0.0101;ExAC_AFR=0.0020;ExAC_AMR=0.0087;ExAC_EAS=0.0001;ExAC_FIN=0.0113;ExAC_NFE=0.0126;ExAC_OTH=0.0099;ExAC_SAS=0.0108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.7397;dpsi_zscore=2.176;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0101;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0081;gnomAD_exome_ASJ=0.0124;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0127;gnomAD_exome_NFE=0.0121;gnomAD_exome_OTH=0.0123;gnomAD_exome_SAS=0.0116;gnomAD_genome_ALL=0.0080;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0158;gnomAD_genome_NFE=0.0096;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-496.857,0,-379.701:437:189:240:7263:5883 . . . . . . . . . . . . . . . . . . . . . 0/1:-257.278,0,-315.057:288:155:124:3909:4629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-341.277,0,-372.191:358:179:172:5176:5539 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-484.294,0,-408.631:449:209:231:7073:6210 0/1:-250.305,0,-290.158:277:145:130:3903:4288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21120116 . A G 10273.72 . AB=0.512673;ABP=4.22112;AC=102;AF=0.5;AN=162;AO=445;CIGAR=1X;DP=67480;DPB=868;DPRA=0;EPP=33.4646;EPPR=31.1655;GTI=0;LEN=1;MEANALT=3;MQM=37.973;MQMR=38.5596;NS=1;NUMALT=1;ODDS=1812.99;PAIRED=0.937079;PAIREDR=0.939173;PAO=0;PQA=0;PQR=0;PRO=0;QA=13253;QR=13203;RO=411;RPL=142;RPP=129.497;RPPR=54.7928;RPR=303;RUN=1;SAF=326;SAP=212.101;SAR=119;SF=0,1;SRF=288;SRP=146.851;SRR=123;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.4302;esp6500siv2_ea=0.3458;esp6500siv2_all=0.4302;esp6500siv2_ea=0.3458;1000g2015aug_all=0.46905;avsnp147=rs10491056;Kaviar_AF=0.379342;Kaviar_AC=58647;Kaviar_AN=154602;ExAC_ALL=0.3893;ExAC_AFR=0.6068;ExAC_AMR=0.3091;ExAC_EAS=0.5522;ExAC_FIN=0.2668;ExAC_NFE=0.3503;ExAC_OTH=0.3642;ExAC_SAS=0.4319;CLNALLELEID=54650;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1528;dpsi_zscore=-0.588;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3846;gnomAD_exome_AFR=0.6098;gnomAD_exome_AMR=0.3134;gnomAD_exome_ASJ=0.4177;gnomAD_exome_EAS=0.5603;gnomAD_exome_FIN=0.2806;gnomAD_exome_NFE=0.3524;gnomAD_exome_OTH=0.3795;gnomAD_exome_SAS=0.4328;gnomAD_genome_ALL=0.4218;gnomAD_genome_AFR=0.6096;gnomAD_genome_AMR=0.3309;gnomAD_genome_ASJ=0.4735;gnomAD_genome_EAS=0.5752;gnomAD_genome_FIN=0.2744;gnomAD_genome_NFE=0.3394;gnomAD_genome_OTH=0.35;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-832.447,0,-841.593:868:411:445:13253:13203 1/1:-2325.36,-249.004,0:1002:18:966:28460:551 . 0/1:-492.862,0,-692.261:610:328:274:8048:10475 0/1:-899.461,0,-910.133:938:437:483:14092:14269 1/1:-2465.97,-273.417,0:1049:14:1013:29566:404 0/1:-725.075,0,-803.514:771:385:374:11353:12331 1/1:-2004.9,-233.606,0:841:8:809:24176:152 0/1:-658.213,0,-776.364:746:382:354:10438:12196 . 0/1:-736.108,0,-829.033:821:406:403:11833:13081 . 1/1:-1916.24,-221.415,0:802:8:782:23062:209 0/1:-615.541,0,-671.913:696:342:336:9900:10826 0/1:-713.973,0,-807.522:813:398:404:11685:12634 0/1:-1009.87,0,-1170.96:1113:576:519:15649:18158 . 0/1:-1486.57,0,-1612.74:1603:794:783:23093:25103 0/1:-836.145,0,-996.656:945:481:458:13630:15358 . 0/1:-575.863,0,-601.157:614:309:301:9185:9646 0/1:-995.654,0,-1054.07:1059:515:525:15736:16279 1/1:-1216.99,-135.093,0:571:11:538:15517:343 0/1:-959.257,0,-1153.26:1074:544:518:15245:17376 1/1:-2171.21,-246.198,0:936:13:902:26327:383 . 0/1:-795.944,0,-839.516:849:411:428:12635:13125 0/1:-895.99,0,-1101.21:1043:521:507:14743:16712 0/1:-649.099,0,-828.782:781:399:368:10606:12492 0/1:-520.083,0,-612.976:569:287:277:8131:9287 . 0/1:-983.888,0,-1051.24:1059:521:523:15647:16399 . 0/1:-330.416,0,-321.471:344:160:178:5249:5171 . 0/1:-891.819,0,-1038.88:1013:511:492:14385:16274 . . 0/1:-727.187,0,-790.109:791:391:386:11322:12366 . 0/1:-941.336,0,-1098.99:1042:528:500:14947:16578 1/1:-1591.18,-163.184,0:680:16:655:19322:453 0/1:-787.217,0,-929.541:860:429:419:12343:13904 0/1:-763.743,0,-965.33:878:461:408:12307:14710 0/1:-1015.3,0,-1325.63:1184:624:546:16093:19873 1/1:-2249.34,-248.982,0:960:13:921:27304:402 0/1:-707.93,0,-853.739:807:408:379:11238:12928 0/1:-403.494,0,-461.182:441:219:218:6321:7016 . 0/1:-868.978,0,-1210.13:1064:587:469:14074:18533 . . 0/1:-980.228,0,-1158.35:1094:563:516:15562:18140 1/1:-2273.22,-266.115,0:946:7:926:27379:195 1/1:-1647.44,-197.243,0:717:6:698:19846:195 0/1:-540.509,0,-633.32:622:311:303:8879:9839 0/1:-887.224,0,-966.642:956:474:469:13999:15087 0/1:-560.877,0,-586.986:606:292:304:8908:9403 . 0/1:-630.721,0,-835.278:755:401:343:10307:12721 1/1:-1576.36,-185.454,0:666:6:641:18982:113 . . 1/1:-1520.06,-155.426,0:664:16:631:18689:449 0/1:-1106.04,0,-1319.84:1225:626:583:17497:19989 0/1:-709.451,0,-1039.71:883:485:390:11664:15736 . 0/1:-852.359,0,-948.484:913:455:448:13380:14599 . 1/1:-2136.88,-252.429,0:916:7:885:26107:209 0/1:-691.46,0,-748.7:761:387:360:10971:11996 0/1:-880.336,0,-1198.23:1075:574:485:14272:18003 1/1:-2472.96,-272.909,0:1059:22:1010:29868:486 0/1:-469.353,0,-638.79:644:333:297:8133:10114 0/1:-692.86,0,-843.179:780:399:370:11024:13019 0/1:-907.22,0,-982.009:989:485:481:14230:15397 0/1:-803.844,0,-891.291:866:434:425:12671:13631 1/1:-2487.69,-281.457,0:1048:12:1018:30403:331 1/1:-1446.08,-158.159,0:612:10:590:17543:289 . . . . 0/1:-687.764,0,-929.572:832:436:383:11273:13837 1/1:-1663.32,-168.432,0:723:22:687:20292:559 . . 0/1:-852.967,0,-888.588:920:451:453:13559:14220 1/1:-1243.94,-142.445,0:518:5:502:15205:114 . . 0/1:-716.932,0,-876.082:827:422:391:11432:13415 0/1:-912.393,0,-1096.47:1046:532:495:14732:16796 0/1:-831.869,0,-845.298:878:418:442:13058:13406 1/1:-2228.4,-246.185,0:926:12:906:26949:362 . 0/1:-640.665,0,-763.273:662:343:311:9805:11311:343,311 0/1:-741.943,0,-747.65:721:360:357:11358:11581:360,357 1/1:-2059.18,-206.733,0:804:13:781:24728:365:13,781 . . 0/1:-789.034,0,-957.934:854:452:395:12580:14573:452,395 0/1:-674.028,0,-740.662:685:346:325:10225:11252:346,325 0/1:-635.62,0,-745.003:662:345:310:9884:11055:345,310 0/1:-679.367,0,-754.088:686:359:319:10344:11439:359,319 0/1:-579.893,0,-751.179:647:348:290:9280:10997:348,290 0/1:-811.498,0,-787.145:767:376:382:12214:12034:376,382 1/1:-1409.76,-143.414,0:553:7:542:17249:248:7,542 . . 0/1:-658.128,0,-667.292:636:311:317:9877:10016:311,317 . 0/1:-645.677,0,-932.941:774:440:330:10414:13990:440,330 0/1:-605.066,0,-721.717:645:329:307:9490:10889:329,307 0/1:-666.463,0,-701.131:680:340:331:10301:10931:340,331 . chr10 21134282 . C G 2079.22 . AB=0.363296;ABP=46.3503;AC=39;AF=0.5;AN=70;AO=97;CIGAR=1X;DP=7424;DPB=267;DPRA=0;EPP=91.8616;EPPR=144.343;GTI=0;LEN=1;MEANALT=3;MQM=40.7835;MQMR=40.7669;NS=1;NUMALT=1;ODDS=302.378;PAIRED=0.989691;PAIREDR=0.981595;PAO=0;PQA=0;PQR=0;PRO=0;QA=2605;QR=4810;RO=163;RPL=56;RPP=8.04722;RPPR=34.9962;RPR=41;RUN=1;SAF=39;SAP=11.0918;SAR=58;SF=0,1;SRF=76;SRP=4.62225;SRR=87;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon12:c.G1132C:p.D378H;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0610;esp6500siv2_ea=0.0828;esp6500siv2_all=0.0610;esp6500siv2_ea=0.0828;1000g2015aug_all=0.0385383;avsnp147=rs41277370;Kaviar_AF=0.0651544;Kaviar_AC=10073;Kaviar_AN=154602;ExAC_ALL=0.0652;ExAC_AFR=0.0173;ExAC_AMR=0.0422;ExAC_EAS=0.0183;ExAC_FIN=0.0439;ExAC_NFE=0.0832;ExAC_OTH=0.0787;ExAC_SAS=0.0704;CLNALLELEID=54641;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.912;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.9;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.795;MutationAssessor_pred=M;FATHMM_score=0.59;FATHMM_pred=T;PROVEAN_score=-5.66;PROVEAN_pred=D;VEST3_score=0.244;CADD_raw=5.403;CADD_phred=26.0;DANN_score=0.994;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.908;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.24;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=9.023;GDI_full_10282015=.;dpsi_max_tissue=1.7380;dpsi_zscore=1.878;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0663;gnomAD_exome_AFR=0.0152;gnomAD_exome_AMR=0.0420;gnomAD_exome_ASJ=0.1655;gnomAD_exome_EAS=0.0192;gnomAD_exome_FIN=0.0467;gnomAD_exome_NFE=0.0808;gnomAD_exome_OTH=0.0820;gnomAD_exome_SAS=0.0718;gnomAD_genome_ALL=0.0549;gnomAD_genome_AFR=0.0218;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0.0297;gnomAD_genome_FIN=0.0513;gnomAD_genome_NFE=0.0742;gnomAD_genome_OTH=0.0716;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-151.705,0,-340.069:267:163:97:2605:4810 . . . 0/1:-218,0,-237.408:259:127:122:3356:3614 1/1:-599.33,-60.7337,0:261:7:243:7066:165 . 0/1:-207.649,0,-223.715:244:113:120:3175:3391 . . . . . . 0/1:-180.997,0,-179.997:205:96:99:2739:2746 0/1:-287.484,0,-325.95:345:170:154:4419:4893 . . . . . 0/1:-240.213,0,-327.768:312:165:135:3787:4812 0/1:-154.655,0,-145.027:177:80:89:2422:2255 . 1/1:-478.263,-43.6087,0:226:10:205:5773:257 . . . 0/1:-237.873,0,-151.223:219:88:121:3450:2515 0/1:-129.123,0,-151.492:163:81:78:1996:2267 . 0/1:-351.381,0,-285.112:348:154:182:5160:4429 . . . . . . . . . . 0/1:-213.73,0,-222.682:243:116:119:3277:3353 . . 1/1:-528.037,-57.3951,0:237:6:223:6220:129 . . . . . . . 1/1:-619.151,-59.5263,0:276:11:257:7308:237 0/1:-130.744,0,-201.343:197:101:79:2184:2938 . . . . 0/1:-208.966,0,-192.277:224:102:115:3115:2926 . . . . 0/1:-218.914,0,-294.544:287:148:130:3517:4476 0/1:-181.809,0,-228.63:215:113:92:2776:3297 . 0/1:-308.36,0,-233.637:291:123:160:4548:3674 . 0/1:-209.854,0,-224.497:242:118:116:3220:3397 0/1:-198.651,0,-210.266:238:111:116:3038:3168 0/1:-207.083,0,-308.284:288:152:129:3374:4511 0/1:-246.482,0,-332.248:326:166:143:3897:4867 0/1:-117.287,0,-140.088:166:81:73:1879:2229 . . . 1/1:-594.336,-64.2397,0:273:7:255:7041:173 0/1:-142.322,0,-168.041:177:88:80:2237:2503 . . . . . 0/1:-196.499,0,-254.069:263:134:114:3127:3824 . . . . . . 0/1:-133.361,0,-162.797:174:89:78:2153:2540 . . . . . . 0/1:-48.5357,0,-70.9582:57:32:24:741:1018:32,24 0/0:0,-3.20798,-63.6151:32:29:2:68:795:29,2 . . . 0/1:-62.7787,0,-81.0346:70:38:30:955:1149:38,30 . 0/1:-14.6702,0,-69.6421:44:31:12:314:939:31,12 0/1:-55.4472,0,-30.161:42:15:26:771:484:15,26 . . . . . . 0/1:-25.8086,0,-38.4351:36:19:16:423:564:19,16 . . chr10 21139389 . T C 8765.48 . AB=0.510559;ABP=3.78987;AC=39;AF=0.5;AN=68;AO=411;CIGAR=1X;DP=25395;DPB=805;DPRA=0;EPP=7.45363;EPPR=10.772;GTI=0;LEN=1;MEANALT=3;MQM=40.4088;MQMR=40.7807;NS=1;NUMALT=1;ODDS=1849.69;PAIRED=0.987835;PAIREDR=0.986945;PAO=0;PQA=0;PQR=0;PRO=0;QA=12256;QR=12156;RO=383;RPL=162;RPP=43.0003;RPPR=28.4613;RPR=249;RUN=1;SAF=222;SAP=8.76391;SAR=189;SF=0,1;SRF=193;SRP=3.06133;SRR=190;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon11:c.A1051G:p.M351V;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0834;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0834;1000g2015aug_all=0.038738;avsnp147=rs4025981;Kaviar_AF=0.0653226;Kaviar_AC=10099;Kaviar_AN=154602;ExAC_ALL=0.0650;ExAC_AFR=0.0167;ExAC_AMR=0.0419;ExAC_EAS=0.0181;ExAC_FIN=0.0434;ExAC_NFE=0.0833;ExAC_OTH=0.0795;ExAC_SAS=0.0701;CLNALLELEID=54638;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.091;SIFT_pred=T;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.925;MutationAssessor_pred=M;FATHMM_score=3.63;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_pred=D;VEST3_score=0.306;CADD_raw=1.032;CADD_phred=10.84;DANN_score=0.918;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.988;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.11;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.113;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.937;SiPhy_29way_logOdds=9.009;GDI_full_10282015=.;dpsi_max_tissue=-1.1031;dpsi_zscore=-1.530;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0667;gnomAD_exome_AFR=0.0154;gnomAD_exome_AMR=0.0418;gnomAD_exome_ASJ=0.1708;gnomAD_exome_EAS=0.0191;gnomAD_exome_FIN=0.0469;gnomAD_exome_NFE=0.0811;gnomAD_exome_OTH=0.0827;gnomAD_exome_SAS=0.0720;gnomAD_genome_ALL=0.0553;gnomAD_genome_AFR=0.0221;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0.0296;gnomAD_genome_FIN=0.0515;gnomAD_genome_NFE=0.0743;gnomAD_genome_OTH=0.0755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-827.536,0,-813.873:805:383:411:12256:12156 . . . 0/1:-742.772,0,-791.451:772:383:379:11194:11923 1/1:-2079.18,-226.558,0:839:10:815:24233:251 . 0/1:-803.557,0,-723.529:779:356:406:11796:11009 . . . . . . 0/1:-524.85,0,-753.353:648:355:280:8342:11042 0/1:-1065.63,0,-1074.3:1049:507:526:15767:15895 . . . . . 0/1:-880.714,0,-1025.4:953:489:456:13399:15201 0/1:-446.978,0,-482.444:486:230:243:6798:7183 . 1/1:-2083.82,-220.489,0:861:13:837:24440:408 . . . 0/1:-622.367,0,-593.84:614:290:313:9279:8985 0/1:-529.053,0,-578.667:555:280:270:7971:8664 . 0/1:-944.81,0,-1056.59:1001:499:488:14326:15603 . . . . . . . . . . 0/1:-894.347,0,-723.64:800:355:432:12998:11076 . . 1/1:-1978.48,-208.147,0:829:15:796:23278:427 . . . . . . . 1/1:-2102.56,-228.337,0:865:11:839:24655:330 0/1:-546.415,0,-681.711:623:321:294:8478:10014 . . . . 0/1:-547.877,0,-648.857:598:307:281:8297:9559 . . . . 0/1:-973.194,0,-1067.49:1045:520:502:14790:15986 0/1:-704.143,0,-864.216:781:409:360:10793:12671 . 0/1:-684.773,0,-966.68:816:441:367:10740:13942 . 0/1:-677.582,0,-855.841:775:405:356:10531:12603 0/1:-667.587,0,-783.328:742:373:359:10424:11732 0/1:-960.137,0,-868.198:913:426:476:14062:13278 0/1:-878.465,0,-979.806:936:466:457:13411:14568 0/1:-592.795,0,-605.158:667:323:331:9174:9516 . . . 1/1:-2168.56,-224.064,0:903:18:862:25396:470 0/1:-549.78,0,-638.317:595:313:273:8359:9529 . . . . . 0/1:-552.998,0,-770.177:680:359:310:8855:11284 . . . . . . 0/1:-548.599,0,-749.224:661:345:306:8640:11016 . . . . . . 0/1:-628.142,0,-700.853:628:322:300:9292:10218:322,300 . . . . 0/1:-666.634,0,-541.618:572:254:310:9593:8165:254,310 . 0/1:-452.516,0,-522.384:464:240:218:6756:7734:240,218 0/1:-647.755,0,-625.401:593:286:301:9654:9280:286,301 . . . . . . 0/1:-588.113,0,-569.54:547:263:274:8540:8387:263,274 . . chr10 21141440 . AGGGAGGGT AGGAGGGT 4956.11 . AB=0;ABP=0;AC=62;AF=1;AN=108;AO=685;CIGAR=1M1D1M;DP=32708;DPB=514;DPRA=0;EPP=187.129;EPPR=32.0437;GTI=0;LEN=1;MEANALT=14;MQM=36.1358;MQMR=40.8519;NS=1;NUMALT=1;ODDS=777.483;PAIRED=0.944526;PAIREDR=1;PAO=2;PQA=20.5;PQR=20.5;PRO=2;QA=18750;QR=663;RO=27;RPL=191;RPP=294.048;RPPR=21.1059;RPR=494;RUN=1;SAF=510;SAP=358.767;SAR=175;SF=0,1;SRF=25;SRP=45.5551;SRR=2;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.2135;esp6500siv2_ea=0.2555;esp6500siv2_all=0.2135;esp6500siv2_ea=0.2555;1000g2015aug_all=0.252796;avsnp147=rs3831100;Kaviar_AF=0.210573;Kaviar_AC=32555;Kaviar_AN=154602;ExAC_ALL=0.2582;ExAC_AFR=0.1313;ExAC_AMR=0.1462;ExAC_EAS=0.4663;ExAC_FIN=0.2157;ExAC_NFE=0.2575;ExAC_OTH=0.2478;ExAC_SAS=0.3294;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2576;gnomAD_exome_AFR=0.1256;gnomAD_exome_AMR=0.1507;gnomAD_exome_ASJ=0.2212;gnomAD_exome_EAS=0.4703;gnomAD_exome_FIN=0.2268;gnomAD_exome_NFE=0.2637;gnomAD_exome_OTH=0.2552;gnomAD_exome_SAS=0.3309;gnomAD_genome_ALL=0.2240;gnomAD_genome_AFR=0.1250;gnomAD_genome_AMR=0.1639;gnomAD_genome_ASJ=0.2315;gnomAD_genome_EAS=0.4726;gnomAD_genome_FIN=0.2140;gnomAD_genome_NFE=0.2586;gnomAD_genome_OTH=0.2531;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:.,.,0:744:27:685:18750:663 . 0/1:.,.,-299.155:378:169:188:5121:4982 . . 0/1:.,.,-483.984:517:246:247:6490:7406 0/1:.,.,-664.193:713:344:337:9003:10434 0/1:.,.,-452.319:527:241:252:6726:7150 . 0/1:.,.,-532.392:575:285:254:6976:8330 . 1/1:.,.,0:506:24:457:12417:605 0/1:.,.,-520.303:504:257:219:5444:7910 . . . 0/1:.,.,-1152.33:1182:593:533:14531:17983 0/1:.,.,-537.948:542:269:247:6671:8273 . 0/1:.,.,-381.736:449:208:217:5999:6117 . 0/1:.,.,-394.43:407:204:176:4751:6145 0/1:.,.,-776.215:739:382:313:8677:11741 . . 0/1:.,.,-557.844:604:291:281:7837:8821 0/1:.,.,-762.868:741:390:319:8825:11768 . . . . 0/1:.,.,-684.573:711:343:321:8772:10552 0/1:.,.,-416.946:409:219:158:4151:6501 . 0/1:.,.,-711.613:733:361:331:8847:10956 . . 0/1:.,.,-677.979:696:348:305:7966:10460 . 0/1:.,.,-736.202:708:370:302:8114:11387 1/1:.,.,0:518:32:465:12857:736 . 0/1:.,.,-624.854:617:321:266:7329:9722 0/1:.,.,-666.587:752:354:346:9533:10512 . 0/1:.,.,-582.283:592:296:263:7149:9013 0/1:.,.,-361.249:362:185:163:4227:5524 . 0/1:.,.,-703.981:715:355:324:8596:10941 . . 0/1:.,.,-756.447:779:387:347:9451:11830 . . 0/1:.,.,-443.438:511:230:248:6696:7024 0/1:.,.,-614.628:655:309:307:8403:9395 0/1:.,.,-329.937:355:176:164:4646:5183 . . 1/1:.,.,0:381:22:336:8619:551 . . 1/1:.,.,0:433:22:394:10841:566 . . . . . . . . 0/1:.,.,-713.455:688:354:302:8105:10683 . 0/1:.,.,-591.793:523:291:204:5539:8801 0/1:.,.,-751.565:752:381:332:8663:11613 0/1:.,.,-640.974:643:328:280:7485:10039 . 0/1:.,.,-479.812:456:244:187:4954:7245 . . . . 0/1:.,.,-514.842:562:270:257:6729:8139 0/1:.,.,-563.611:555:285:240:6197:8708 . . 0/1:.,.,-687.417:720:355:310:8004:10614 1/1:.,.,0:394:26:353:9701:637 . . . 0/1:.,.,-606.1:648:314:309:8619:9515 0/1:.,.,-644.674:637:333:275:7203:10052 1/1:.,.,0:755:41:670:18165:869 . 0/1:-544.241,0,-578.527:622:265:303:8154:8532:265,303 0/1:-622.006,0,-652.966:715:305:336:9325:9711:305,336 0/1:-593.981,0,-650.15:692:296:309:8890:9518:296,309 . . 0/1:-712.866,0,-641.026:738:300:376:10462:9671:300,376 0/1:-481.744,0,-549.722:580:252:267:7262:8085:252,267 . 0/1:-452.224,0,-645.27:613:292:258:7078:9369:292,258 . . 1/1:-1244.29,-155.019,0:569:1:506:14215:27:1,506 . . 0/1:-429.631,0,-526.38:532:241:235:6529:7736:241,235 . 0/1:-569.623,0,-621.607:688:290:320:8600:9269:290,320 . 0/1:-482.225,0,-605.597:571:269:254:7348:8692:269,254 . chr10 21141469 . T C 23765.03 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=901;CIGAR=1X;DP=113351;DPB=923;DPRA=0;EPP=454.872;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=38.4206;MQMR=0;NS=1;NUMALT=1;ODDS=1252.05;PAIRED=0.956715;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=28215;QR=0;RO=0;RPL=199;RPP=612.78;RPPR=0;RPR=702;RUN=1;SAF=668;SAP=459.056;SAR=233;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.9928;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9928;esp6500siv2_ea=0.9994;1000g2015aug_all=0.952476;avsnp147=rs703089;Kaviar_AF=0.927161;Kaviar_AC=143341;Kaviar_AN=154602;ExAC_ALL=0.9709;ExAC_AFR=0.9806;ExAC_AMR=0.7943;ExAC_EAS=0.9169;ExAC_FIN=0.9998;ExAC_NFE=0.9993;ExAC_OTH=0.9835;ExAC_SAS=0.9894;CLNALLELEID=54637;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=7.3979;dpsi_zscore=2.883;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9644;gnomAD_exome_AFR=0.9810;gnomAD_exome_AMR=0.8115;gnomAD_exome_ASJ=0.9990;gnomAD_exome_EAS=0.9095;gnomAD_exome_FIN=0.9999;gnomAD_exome_NFE=0.9994;gnomAD_exome_OTH=0.9713;gnomAD_exome_SAS=0.9896;gnomAD_genome_ALL=0.9840;gnomAD_genome_AFR=0.9820;gnomAD_genome_AMR=0.8278;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.8897;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9857;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 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1/1:-3120.02,-340.164,0:1139:0:1130:36493:0:0,1130 1/1:-2489.44,-268.837,0:919:2:904:28961:48:2,904 1/1:-2623,-282.065,0:953:0:937:30271:0:0,937 1/1:-2538.41,-278.453,0:943:0:925:29415:0:0,925 chr10 21147144 . G A 6358.99 . AB=0.47619;ABP=6.73282;AC=5;AF=0.5;AN=10;AO=360;CIGAR=1X;DP=3411;DPB=756;DPRA=0;EPP=3.61349;EPPR=15.6003;GTI=0;LEN=1;MEANALT=3;MQM=39.3056;MQMR=39.7297;NS=1;NUMALT=1;ODDS=1564.48;PAIRED=0.969444;PAIREDR=0.931759;PAO=0;PQA=0;PQR=0;PRO=0;QA=11062;QR=11795;RO=381;RPL=124;RPP=78.674;RPPR=92.0635;RPR=236;RUN=1;SAF=273;SAP=211.689;SAR=87;SF=0,1;SRF=284;SRP=202.313;SRR=97;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0052;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0052;1000g2015aug_all=0.0543131;avsnp147=rs2281883;Kaviar_AF=0.0286413;Kaviar_AC=4428;Kaviar_AN=154602;ExAC_ALL=0.0315;ExAC_AFR=0.0036;ExAC_AMR=0.0545;ExAC_EAS=0.1170;ExAC_FIN=0.0145;ExAC_NFE=0.0073;ExAC_OTH=0.0312;ExAC_SAS=0.0934;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0323;dpsi_zscore=1.539;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0314;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0520;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0.1074;gnomAD_exome_FIN=0.0160;gnomAD_exome_NFE=0.0064;gnomAD_exome_OTH=0.0273;gnomAD_exome_SAS=0.0908;gnomAD_genome_ALL=0.0120;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0394;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0883;gnomAD_genome_FIN=0.0157;gnomAD_genome_NFE=0.0065;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-716.812,0,-787.973:756:381:360:11062:11795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-789.748,0,-769.097:821:381:418:12147:11714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-514.059,0,-557.664:590:289:284:8193:8668 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-616.993,0,-609.953:587:287:288:9211:8981:287,288 . . . . . . . . 0/1:-740.543,0,-670.88:657:315:335:10779:10045:315,335 . . . . . . chr10 21157673 . C T,A 5961.72 . AB=0.51773;ABP=4.93536;AC=3,0;AF=0.5;AN=16;AO=365;CIGAR=1X;DP=3860;DPB=705;DPRA=0;EPP=31.3346;EPPR=3.12689;GTI=0;LEN=1;MEANALT=3;MQM=35.0932;MQMR=36.3691;NS=1;NUMALT=1;ODDS=1164.31;PAIRED=0.972603;PAIREDR=0.969799;PAO=0;PQA=0;PQR=0;PRO=0;QA=10236;QR=8780;RO=298;RPL=196;RPP=7.3473;RPPR=11.4339;RPR=169;RUN=1;SAF=156;SAP=19.7217;SAR=209;SF=0,1;SRF=135;SRP=8.72317;SRR=163;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon7:c.G604A:p.G202R;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00139776;avsnp147=rs137973321;Kaviar_AF=0.0020828;Kaviar_AC=322;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0009;ExAC_AMR=0.0018;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0031;ExAC_OTH=0.0033;ExAC_SAS=0.0002;CLNALLELEID=54665;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.461;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=3.61;FATHMM_pred=T;PROVEAN_score=-0.46;PROVEAN_pred=N;VEST3_score=0.703;CADD_raw=2.566;CADD_phred=19.89;DANN_score=0.813;fathmm-MKL_coding_score=0.778;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.042;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.866;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=8.948;GDI_full_10282015=.;dpsi_max_tissue=1.5343;dpsi_zscore=1.794;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM106907#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0028;gnomAD_exome_ASJ=0.0033;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0017;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=NEBL:NM_006393:exon7:c.G604T:p.G202X;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=10.623;CADD_phred=36;DANN_score=0.992;fathmm-MKL_coding_score=0.872;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.866;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=8.948;GDI_full_10282015=.;dpsi_max_tissue=-66.0763;dpsi_zscore=-3.689;hgmdCODING=HGMD::Cardiomyopathy,_dilated#20951326;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=8 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . 0/1:-629.948,0,-516.063,.,.,.:705:298:365,.:10236,.:8780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-786.683,0,-871.067,.,.,.:971:468:466,.:13254,.:13819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,.,.,-51.8816,.,-564.456:239:225:.,14:.,240:6778:225,14 . . 0/1:-393.318,0,-355.691,.,.,.:414:190:209,.:6110,.:5562:190,209 . . . . 0/0:0,.,.,-68.1337,.,-746.595:333:308:.,24:.,401:9188:308,24 . . 0/0:0,.,.,-81.5356,.,-897.726:414:381:.,29:.,478:11132:381,29 . . . 0/0:0,.,.,-99.7317,.,-1029.72:451:422:.,25:.,444:12384:422,25 0/0:0,.,.,-77.3079,.,-776.012:333:312:.,18:.,311:9315:312,18 chr10 21169720 . T C 3358.84 . AB=0.469231;ABP=6.2174;AC=1;AF=0.5;AN=2;AO=183;CIGAR=1X;DP=390;DPB=390;DPRA=0;EPP=10.4265;EPPR=53.2147;GTI=0;LEN=1;MEANALT=3;MQM=38.3661;MQMR=39.325;NS=1;NUMALT=1;ODDS=773.401;PAIRED=0.978142;PAIREDR=0.97;PAO=0;PQA=0;PQR=0;PRO=0;QA=5463;QR=6313;RO=200;RPL=103;RPP=9.2874;RPPR=5.78978;RPR=80;RUN=1;SAF=99;SAP=5.68014;SAR=84;SF=0;SRF=118;SRP=17.0814;SRR=82;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0040;1000g2015aug_all=0.00179712;avsnp147=rs71578983;Kaviar_AF=0.0034282;Kaviar_AC=530;Kaviar_AN=154602;ExAC_ALL=0.0032;ExAC_AFR=0.0006;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0051;ExAC_NFE=0.0045;ExAC_OTH=0.0055;ExAC_SAS=0.0027;CLNALLELEID=54664;CLNDN=Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.4061;dpsi_zscore=-1.676;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0059;gnomAD_exome_NFE=0.0047;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0052;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-344.758,0,-417.209:390:200:183:5463:6313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21177128 . G C 2901.09 . AB=0.459574;ABP=6.34605;AC=3;AF=0.5;AN=6;AO=108;CIGAR=1X;DP=1045;DPB=235;DPRA=0;EPP=18.7736;EPPR=14.2266;GTI=0;LEN=1;MEANALT=3;MQM=38.7593;MQMR=37.9669;NS=1;NUMALT=1;ODDS=431.458;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3184;QR=3478;RO=121;RPL=64;RPP=11.0528;RPPR=18.1029;RPR=44;RUN=1;SAF=78;SAP=49.335;SAR=30;SF=0;SRF=77;SRP=22.5536;SRR=44;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=NEBL:NM_006393:exon4:c.C267G:p.Y89X;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0017;1000g2015aug_all=0.000599042;avsnp147=rs147622517;Kaviar_AF=0.0013066;Kaviar_AC=202;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0003;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0021;ExAC_OTH=0.0044;ExAC_SAS=0;CLNALLELEID=174916;CLNDN=Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=9.147;CADD_phred=35;DANN_score=0.994;fathmm-MKL_coding_score=0.795;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.08;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=-0.232;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=13.313;GDI_full_10282015=.;dpsi_max_tissue=-80.4363;dpsi_zscore=-4.238;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0023;gnomAD_exome_OTH=0.0016;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-201.297,0,-224.969:235:121:108:3184:3478 . . . . . . . . . . . . . . 0/1:-375.967,0,-399.71:406:204:196:5828:6138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-379.332,0,-399.042:404:207:193:5845:6172 . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21177143 . GAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT GAAAAAAAAACAGGAAAAAATAAATAAATAAACTT,TAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT 274.09 . AB=0;ABP=0;AC=3,0;AF=1;AN=14;AO=52;CIGAR=14M1D21M;DP=1103;DPB=85.75;DPRA=0;EPP=3.67845;EPPR=5.18177;GTI=0;LEN=1;MEANALT=28;MQM=41.5769;MQMR=42;NS=1;NUMALT=1;ODDS=94.4187;PAIRED=0.980769;PAIREDR=1;PAO=7;PQA=136.667;PQR=136.667;PRO=7;QA=1481;QR=33;RO=1;RPL=36;RPP=19.7139;RPPR=5.18177;RPR=16;RUN=1;SAF=30;SAP=5.68288;SAR=22;SF=1;SRF=1;SRP=5.18177;SRR=0;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.5951;esp6500siv2_ea=0.6444;esp6500siv2_all=0.5951;esp6500siv2_ea=0.6444;1000g2015aug_all=0.540535;avsnp147=rs67288319;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;ExAC_ALL=0.6124;ExAC_AFR=0.5036;ExAC_AMR=0.5955;ExAC_EAS=0.4144;ExAC_FIN=0.7378;ExAC_NFE=0.6507;ExAC_OTH=0.6327;ExAC_SAS=0.5808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5983;gnomAD_exome_AFR=0.4860;gnomAD_exome_AMR=0.5908;gnomAD_exome_ASJ=0.5353;gnomAD_exome_EAS=0.3743;gnomAD_exome_FIN=0.7184;gnomAD_exome_NFE=0.6390;gnomAD_exome_OTH=0.5976;gnomAD_exome_SAS=0.5700;gnomAD_genome_ALL=0.5936;gnomAD_genome_AFR=0.4865;gnomAD_genome_AMR=0.5627;gnomAD_genome_ASJ=0.4901;gnomAD_genome_EAS=0.3377;gnomAD_genome_FIN=0.7246;gnomAD_genome_NFE=0.6549;gnomAD_genome_OTH=0.6321;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-8.6505;dpsi_zscore=-2.834;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-127.966,-31.991,0,.,.,.:87:1:52,.:1481,.:33:1,52 0/0:.,.,.,.,.,-452.388:190:175:.,13:.,210:5436:175,13 . . 0/0:.,.,.,.,.,-385.658:160:150:.,9:.,159:4574:150,9 . 0/0:.,.,.,.,.,-356.459:154:142:.,9:.,154:4286:142,9 . . . . 0/0:.,.,.,.,.,-430.573:190:177:.,10:.,188:5239:177,10 . . 0/1:-74.4444,0,-110.797,.,.,.:164:55:52,.:1350,.:1742:55,52 . 0/0:.,.,.,.,.,-374.103:158:146:.,10:.,186:4487:146,10 chr10 21177156 . GAAAAAAATAAATAAATAAACTT GAAAAAATAAATAAATAAACTT 2678.92 . AB=0.348404;ABP=78.0647;AC=126;AF=0.5;AN=182;AO=131;CIGAR=1M1D7M;DP=27031;DPB=369.889;DPRA=0;EPP=33.6596;EPPR=21.6702;GTI=0;LEN=1;MEANALT=38;MQM=39.1985;MQMR=39.9153;NS=1;NUMALT=1;ODDS=318.708;PAIRED=0.992366;PAIREDR=0.988701;PAO=10.5;PQA=220.5;PQR=151.5;PRO=6.5;QA=2724;QR=4996;RO=177;RPL=66;RPP=3.02688;RPPR=5.77065;RPR=65;RUN=1;SAF=84;SAP=25.703;SAR=47;SF=0,1;SRF=109;SRP=23.6332;SRR=68;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.5951;esp6500siv2_ea=0.6444;esp6500siv2_all=0.5951;esp6500siv2_ea=0.6444;1000g2015aug_all=0.540535;avsnp147=rs67288319;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;ExAC_ALL=0.6124;ExAC_AFR=0.5036;ExAC_AMR=0.5955;ExAC_EAS=0.4144;ExAC_FIN=0.7378;ExAC_NFE=0.6507;ExAC_OTH=0.6327;ExAC_SAS=0.5808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5983;gnomAD_exome_AFR=0.4860;gnomAD_exome_AMR=0.5908;gnomAD_exome_ASJ=0.5353;gnomAD_exome_EAS=0.3743;gnomAD_exome_FIN=0.7184;gnomAD_exome_NFE=0.6390;gnomAD_exome_OTH=0.5976;gnomAD_exome_SAS=0.5700;gnomAD_genome_ALL=0.5936;gnomAD_genome_AFR=0.4865;gnomAD_genome_AMR=0.5627;gnomAD_genome_ASJ=0.4901;gnomAD_genome_EAS=0.3377;gnomAD_genome_FIN=0.7246;gnomAD_genome_NFE=0.6549;gnomAD_genome_OTH=0.6321;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-340.268:376:177:131:2724:4996 . 1/1:.,.,0:377:12:305:6704:295 0/1:.,.,-206.617:245:108:84:1721:3064 0/1:.,.,-222.738:313:123:138:2827:3569 . 0/1:.,.,-317.488:338:159:126:2786:4710 . 0/1:.,.,-235.843:317:133:118:2693:3685 1/1:.,.,0:342:3:278:6153:69 0/1:.,.,-272.848:352:144:128:2934:4228 1/1:.,.,0:359:2:285:6005:55 . 0/1:.,.,-229.401:276:123:93:2013:3419 0/1:.,.,-248.632:312:132:112:2546:3769 0/1:.,.,-318.841:398:170:157:3565:4858 1/1:.,.,0:274:6:216:4585:133 . 0/1:.,.,-386.21:394:197:128:3056:5675 1/1:.,.,0:235:0:199:4545:0 0/1:.,.,-224.312:306:120:108:2431:3369 . . 0/1:.,.,-264.152:323:139:121:2706:3964 . 1/1:.,.,0:242:2:191:4274:51 0/1:.,.,-221.358:315:127:128:2770:3500 0/1:.,.,-355.463:420:188:160:3575:5322 0/1:.,.,-149.192:231:84:92:2026:2406 1/1:.,.,0:257:4:190:4416:101 1/1:.,.,0:371:3:300:6536:79 0/1:.,.,-322.057:452:180:180:3749:5047 1/1:.,.,0:359:6:294:6843:183 0/1:.,.,-111.554:204:63:96:2155:1823 1/1:.,.,0:389:5:303:6575:109 0/1:.,.,-222.686:359:128:159:3495:3580 1/1:.,.,0:208:5:167:3862:138 1/1:.,.,0:461:10:363:8020:298 0/1:.,.,-279.179:338:141:124:2849:4115 1/1:.,.,0:167:1:126:2904:24 0/1:.,.,-303.109:393:162:139:3071:4539 . 0/1:.,.,-184.68:287:101:134:2917:2987 0/1:.,.,-260.194:355:145:138:2973:4073 0/1:.,.,-377.193:436:192:158:3509:5552 . 0/1:.,.,-264.325:320:141:112:2604:3936 0/1:.,.,-149.324:188:78:79:1658:2243 1/1:.,.,0:317:2:248:5471:52 0/1:.,.,-239.131:347:134:150:3357:3788 1/1:.,.,0:323:4:256:5771:104 1/1:.,.,0:343:8:264:5489:202 0/1:.,.,-293.498:470:166:209:4685:4717 0/1:.,.,-292.447:301:145:104:2454:4177 . 0/1:.,.,-185.82:270:97:122:2777:2864 0/1:.,.,-293.37:334:148:127:2836:4308 0/1:.,.,-157.11:193:83:78:1896:2418 1/1:.,.,0:288:5:222:4935:141 1/1:.,.,0:251:6:200:4557:175 . 1/1:.,.,0:398:12:322:7010:309 1/1:.,.,0:224:1:175:4218:21 . 0/1:.,.,-341.888:425:182:162:3782:5199 0/1:.,.,-238.383:298:124:122:2768:3646 1/1:.,.,0:228:4:181:4070:83 0/1:.,.,-374.687:398:197:134:3000:5555 1/1:.,.,0:228:5:189:4240:128 . 0/1:.,.,-230.099:314:126:134:3092:3535 0/1:.,.,-251.713:380:143:164:3571:4111 . 0/1:.,.,-175.38:178:92:50:963:2508 0/1:.,.,-218.056:348:124:161:3734:3441 0/1:.,.,-328.797:387:173:143:3376:4944 0/1:.,.,-317.88:337:163:119:2753:4703 . . 1/1:.,.,0:239:5:182:4200:128 1/1:.,.,0:311:0:248:5542:0 1/1:.,.,0:328:10:262:6163:266 1/1:.,.,0:354:12:276:6153:349 0/1:.,.,-213.743:332:124:149:3408:3550 . 1/1:.,.,0:271:1:215:4534:32 1/1:.,.,0:312:3:235:5155:77 0/1:.,.,-297.984:403:161:156:3737:4636 . 1/1:.,.,0:398:4:310:6816:91 1/1:.,.,0:415:7:346:7953:192 0/1:.,.,-200.141:257:108:97:2274:3024 0/1:.,.,-251.434:402:143:180:4146:4080 0/1:.,.,-300.178:315:153:123:2898:4341 . . 0/1:-64.3297,0,-120.828:131:59:50:1153:1806:59,50 0/1:-73.4011,0,-191.397:160:79:56:1423:2463:79,56 . . 1/1:-306.564,-55.645,0:173:1:141:3490:24:1,141 0/1:-187.069,0,-187.388:246:92:111:2885:2895:92,111 0/1:-78.9508,0,-159.594:160:73:59:1413:2282:73,59 0/1:-93.1343,0,-142.901:154:56:62:1632:1711:56,62 0/1:-124.984,0,-118.256:168:60:75:1926:1860:60,75 0/1:-72.7771,0,-114.129:144:52:52:1313:1600:52,52 0/1:-79.8098,0,-188.155:181:74:54:1447:2279:74,54 . 1/1:-271.567,-42.7024,0:166:4:125:3190:130:4,125 1/1:-344.981,-56.4811,0:199:0:153:3908:0:0,153 0/1:-94.117,0,-139.555:177:71:70:1639:2170:71,70 1/1:-264.756,-48.7705,0:164:1:119:3045:34:1,119 0/1:-164.922,0,-183.152:244:91:101:2616:2818:91,101 . 0/1:-112.826,0,-228.946:210:92:81:2034:2815:92,81 1/1:-255.06,-34.0495,0:148:3:115:2994:98:3,115 chr10 21178792 . G A 5351.95 . AB=0.499076;ABP=3.01431;AC=1;AF=0.5;AN=2;AO=270;CIGAR=1X;DP=541;DPB=541;DPRA=0;EPP=26.4622;EPPR=10.7679;GTI=0;LEN=1;MEANALT=2;MQM=40.7111;MQMR=41.3866;NS=1;NUMALT=1;ODDS=1232.33;PAIRED=0.937037;PAIREDR=0.951673;PAO=0;PQA=0;PQR=0;PRO=0;QA=8548;QR=8602;RO=269;RPL=232;RPP=305.697;RPPR=207.088;RPR=38;RUN=1;SAF=104;SAP=33.9256;SAR=166;SF=1;SRF=108;SRP=25.6856;SRR=161;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon3:c.C240T:p.I80I;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs727503337;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=6.059e-05;CLNALLELEID=174641;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4203;dpsi_zscore=-1.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.459e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.665e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-581.539,0,-589.002:541:269:270:8548:8602:269,270 . . . . . . . . . . . . chr10 21178889 . G T 6475.62 . AB=0.478582;ABP=5.7078;AC=3;AF=0.5;AN=6;AO=324;CIGAR=1X;DP=1761;DPB=677;DPRA=0;EPP=126.972;EPPR=31.1018;GTI=0;LEN=1;MEANALT=3;MQM=39.5802;MQMR=40.4553;NS=1;NUMALT=1;ODDS=1386.53;PAIRED=0.962963;PAIREDR=0.979827;PAO=0;PQA=0;PQR=0;PRO=0;QA=9608;QR=10763;RO=347;RPL=169;RPP=4.32391;RPPR=20.5886;RPR=155;RUN=1;SAF=183;SAP=14.8328;SAR=141;SF=0,1;SRF=221;SRP=59.4874;SRR=126;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0070;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0070;1000g2015aug_all=0.00119808;avsnp147=rs41277376;Kaviar_AF=0.0029301;Kaviar_AC=453;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0007;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0047;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=54649;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.4122;dpsi_zscore=-2.018;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0030;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0055;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0024;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0044;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-623.966,0,-724.939:677:347:324:9608:10763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-871.506,0,-844.57:842:412:425:13034:12564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-287.234,0,-220.869:242:110:130:4114:3416:110,130 . . . . . . . . . . . . . . chr10 21185931 . A G 12273.40 . AB=0.493365;ABP=3.50019;AC=1;AF=0.5;AN=2;AO=632;CIGAR=1X;DP=1281;DPB=1281;DPRA=0;EPP=38.7571;EPPR=100.602;GTI=0;LEN=1;MEANALT=3;MQM=39.5475;MQMR=39.7994;NS=1;NUMALT=1;ODDS=2826.05;PAIRED=0.974684;PAIREDR=0.976115;PAO=0;PQA=0;PQR=0;PRO=0;QA=18961;QR=19366;RO=628;RPL=308;RPP=3.88988;RPPR=32.2768;RPR=324;RUN=1;SAF=383;SAP=64.7049;SAR=249;SF=0;SRF=388;SRP=78.749;SRR=240;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon2:c.T109C:p.L37L;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;1000g2015aug_all=0.00119808;avsnp147=rs140734883;Kaviar_AF=0.0017788;Kaviar_AC=275;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0002;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0133;ExAC_NFE=0.0013;ExAC_OTH=0.0022;ExAC_SAS=0.0026;CLNALLELEID=54639;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9162;dpsi_zscore=1.470;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0127;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0025;gnomAD_genome_ALL=0.0024;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0123;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1245.36,0,-1276.82:1281:628:632:18961:19366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21461410 . GAAAAAAAAAAAAAACATTTAAAAATACAG GAAAAAAAAAAAAACATTTAAAAATACAG,AAAAAAAAAAAAAAACATTTAAAAATACAG,TAAAAAAAAAAAAAACATTTAAAAATACAG,GAAAAAAAAAAAAAAACATTTAAAAATACAG 1748.78 . AB=0.28874;ABP=350.739;AC=4,2,0,0;AF=0.5;AN=42;AO=259;CIGAR=1M1D14M;DP=14508;DPB=903.562;DPRA=0;EPP=18.5124;EPPR=3.0103;GTI=0;LEN=1;MEANALT=121;MQM=31.6911;MQMR=32.8023;NS=1;NUMALT=1;ODDS=450.305;PAIRED=0.888031;PAIREDR=0.924419;PAO=31;PQA=644.5;PQR=644.5;PRO=31;QA=4489;QR=5027;RO=172;RPL=156;RPP=26.5611;RPPR=51.5402;RPR=103;RUN=1;SAF=122;SAP=4.89671;SAR=137;SF=0,1;SRF=79;SRP=5.48477;SRR=93;TYPE=del;technology.ILLUMINA=1;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs112496684;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.2372;ExAC_AFR=0.1872;ExAC_AMR=0.2937;ExAC_EAS=0.1048;ExAC_FIN=0.2433;ExAC_NFE=0.2734;ExAC_OTH=0.2118;ExAC_SAS=0.1647;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1585;gnomAD_exome_AFR=0.1416;gnomAD_exome_AMR=0.1783;gnomAD_exome_ASJ=0.1087;gnomAD_exome_EAS=0.0542;gnomAD_exome_FIN=0.1410;gnomAD_exome_NFE=0.1950;gnomAD_exome_OTH=0.1323;gnomAD_exome_SAS=0.1199;gnomAD_genome_ALL=0.0243;gnomAD_genome_AFR=0.0609;gnomAD_genome_AMR=0.0133;gnomAD_genome_ASJ=0.0042;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0107;gnomAD_genome_NFE=0.0064;gnomAD_genome_OTH=0.0155;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.4518;dpsi_zscore=2.328;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0003;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0021;gnomAD_genome_NFE=8.651e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2143;dpsi_zscore=1.643;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.353634;avsnp147=rs11413698;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;ExAC_ALL=0.2510;ExAC_AFR=0.3225;ExAC_AMR=0.1912;ExAC_EAS=0.3862;ExAC_FIN=0.2419;ExAC_NFE=0.2116;ExAC_OTH=0.2761;ExAC_SAS=0.3235;CLNALLELEID=174922;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3297;gnomAD_exome_AFR=0.3687;gnomAD_exome_AMR=0.3104;gnomAD_exome_ASJ=0.3879;gnomAD_exome_EAS=0.4363;gnomAD_exome_FIN=0.3388;gnomAD_exome_NFE=0.2908;gnomAD_exome_OTH=0.3562;gnomAD_exome_SAS=0.3659;gnomAD_genome_ALL=0.3054;gnomAD_genome_AFR=0.4089;gnomAD_genome_AMR=0.2300;gnomAD_genome_ASJ=0.3125;gnomAD_genome_EAS=0.5297;gnomAD_genome_FIN=0.3925;gnomAD_genome_NFE=0.2007;gnomAD_genome_OTH=0.2848;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:.,.,-211.641,.,.,.,.,.,.,.,.,.,.,.,.:897:172:259,.,.,.:4489,.,.,.:5027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,-57.4288,-552.587,.,.,.,-29.0438,-513.001,.,-506.06,.,.,.,.,.:689:177:44,.,61,.:827,.,932,.:5683:177,44,61 0/0:0,-53.9151,-500.831,.,.,.,-33.2054,-467.212,.,-460.199,.,.,.,.,.:697:166:47,.,73,.:915,.,1040,.:5266:166,47,73 0/0:0,-62.0043,-614.114,.,.,.,-39.364,-577.022,.,-572.422,.,.,.,.,.:835:223:67,.,86,.:1215,.,1280,.:7036:223,67,86 0/0:0,-29.7606,-277.856,.,.,.,-18.6624,-263.409,.,-258.017,.,.,.,.,.:461:105:37,.,38,.:673,.,621,.:3354:105,37,38 0/0:0,-77.6388,-215.036,.,.,.,-52.7119,-222.898,.,-112.824,-55.942,-250.451,.,-225.526,-189.668:554:96:33,.,46,56:594,.,604,936:3013:96,33,56,46 0/0:0,-71.3554,-572.004,.,.,.,-49.6381,-550.603,.,-529.086,.,.,.,.,.:859:217:55,.,77,.:1049,.,1173,.:6830:217,55,77 0/0:0,-55.343,-522.588,.,.,.,-2.62484,-459.895,.,-443.281,.,.,.,.,.:746:190:44,.,80,.:868,.,1207,.:6042:190,44,80 0/0:0,-45.6965,-491.945,.,.,.,-19.1618,-450.304,.,-443.172,.,.,.,.,.:745:167:60,.,78,.:1180,.,1174,.:5270:167,60,78 0/0:0,-58.3156,-509.172,.,.,.,-29.0955,-475.056,.,-460.728,.,.,.,.,.:706:192:49,.,67,.:884,.,964,.:6049:192,49,67 0/0:0,-60.4495,-555.236,.,.,.,-41.3818,-529.192,.,-517.593,.,.,.,.,.:753:192:57,.,71,.:1015,.,1051,.:6046:192,57,71 0/2:-118.551,.,.,0,.,-50.9709,.,.,.,.,.,.,.,.,.:666:114:.,38,.,.:.,645,.,.:3619:114,38 1/1:-132.755,-29.4638,0,.,.,.,.,.,.,.,.,.,.,.,.:565:45:140,.,.,.:2804,.,.,.:1433:45,140 0/0:0,.,.,.,.,.,-25.7003,.,.,-133.03,-5.46082,.,.,-136.064,-117.286:563:76:.,.,39,68:.,.,636,1161:2377:76,68,39 0/0:0,-60.7232,-490.51,.,.,.,-9.19067,-439.502,.,-415.017,.,.,.,.,.:650:170:41,.,76,.:742,.,1184,.:5313:170,41,76 0/0:0,-53.2043,-457.163,.,.,.,-20.5954,-421.772,.,-403.6,.,.,.,.,.:706:156:49,.,65,.:871,.,950,.:4901:156,49,65 0/0:0,-54.5542,-503.808,.,.,.,-6.87852,-446.572,.,-433.835,.,.,.,.,.:779:184:50,.,75,.:913,.,1181,.:5803:184,50,75 0/2:-155.394,.,.,0,.,-118.323,.,.,.,.,.,.,.,.,.:780:116:.,40,.,.:.,654,.,.:3649:116,40 0/0:0,-40.0214,-381.931,.,.,.,-27.5233,-360.39,.,-351.511,.,.,.,.,.:577:129:34,.,51,.:702,.,650,.:4155:129,34,51 0/0:0,-51.29,-392.99,.,.,.,-15.0592,-356.878,.,-332.657,.,.,.,.,.:651:147:38,.,82,.:824,.,1280,.:4674:147,38,82 0/1:-34.6344,0,-203.759,.,.,.,.,.,.,.,.,.,.,.,.:629:103:115,.,.,.:2176,.,.,.:3261:103,115 chr10 21462769 . G A 40.85 . AB=0.351351;ABP=10.1116;AC=1;AF=0.5;AN=2;AO=13;CIGAR=1X;DP=37;DPB=37;DPRA=0;EPP=4.51363;EPPR=3.94093;GTI=0;LEN=1;MEANALT=3;MQM=24.9231;MQMR=23.381;NS=1;NUMALT=1;ODDS=9.40699;PAIRED=1;PAIREDR=0.952381;PAO=0;PQA=0;PQR=0;PRO=0;QA=288;QR=535;RO=21;RPL=10;RPP=11.1951;RPPR=26.2761;RPR=3;RUN=1;SAF=2;SAP=16.5402;SAR=11;SF=0;SRF=9;SRP=3.94093;SRR=12;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=NEBL;GeneDetail.refGene=NM_001173484:c.-7C>T,NM_213569:c.-7C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0052;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0052;1000g2015aug_all=0.0163738;avsnp147=rs141707642;Kaviar_AF=0.0074902;Kaviar_AC=1158;Kaviar_AN=154602;ExAC_ALL=0.0083;ExAC_AFR=0.0270;ExAC_AMR=0.0020;ExAC_EAS=0.0002;ExAC_FIN=0.0034;ExAC_NFE=0.0044;ExAC_OTH=0.0058;ExAC_SAS=0.0237;CLNALLELEID=57800;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0260;gnomAD_exome_AMR=0.0022;gnomAD_exome_ASJ=0.0029;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0047;gnomAD_exome_OTH=0.0061;gnomAD_exome_SAS=0.0204;gnomAD_genome_ALL=0.0097;gnomAD_genome_AFR=0.0264;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0034;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0038;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-11.635,0,-19.5975:37:21:13:288:535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 21462805 . C A 143.57 . AB=0.515152;ABP=3.0761;AC=1;AF=0.5;AN=2;AO=17;CIGAR=1X;DP=33;DPB=33;DPRA=0;EPP=9.26925;EPPR=6.62942;GTI=0;LEN=1;MEANALT=2;MQM=29.4706;MQMR=30.3333;NS=1;NUMALT=1;ODDS=33.0588;PAIRED=0.764706;PAIREDR=0.933333;PAO=0;PQA=0;PQR=0;PRO=0;QA=498;QR=461;RO=15;RPL=16;RPP=31.7504;RPPR=20.5268;RPR=1;RUN=1;SAF=4;SAP=13.3567;SAR=13;SF=0;SRF=3;SRP=14.7363;SRR=12;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=NEBL;GeneDetail.refGene=NM_001173484:c.-43G>T,NM_213569:c.-43G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774813866;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.901e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.427e-05;ExAC_OTH=0;ExAC_SAS=6.327e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.892e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.957e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=6.551e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-24.1916,0,-22.6329:33:15:17:498:461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 67726514 . A C 9735.56 . AB=0;ABP=0;AC=67;AF=1;AN=110;AO=579;CIGAR=1X;DP=45086;DPB=618;DPRA=0;EPP=4.66422;EPPR=33.9218;GTI=0;LEN=1;MEANALT=2;MQM=39.8377;MQMR=35.8529;NS=1;NUMALT=1;ODDS=604.115;PAIRED=0.979275;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=16839;QR=712;RO=34;RPL=315;RPP=12.765;RPPR=4.03217;RPR=264;RUN=1;SAF=225;SAP=65.4204;SAR=354;SF=0,1;SRF=19;SRP=4.03217;SRR=15;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.3098;esp6500siv2_ea=0.3110;esp6500siv2_all=0.3098;esp6500siv2_ea=0.3110;1000g2015aug_all=0.352636;avsnp147=rs2105702;Kaviar_AF=0.334142;Kaviar_AC=51659;Kaviar_AN=154602;ExAC_ALL=0.3443;ExAC_AFR=0.3197;ExAC_AMR=0.5077;ExAC_EAS=0.4055;ExAC_FIN=0.3695;ExAC_NFE=0.3036;ExAC_OTH=0.3226;ExAC_SAS=0.3688;CLNALLELEID=503660;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3496;gnomAD_exome_AFR=0.3158;gnomAD_exome_AMR=0.4993;gnomAD_exome_ASJ=0.2568;gnomAD_exome_EAS=0.4065;gnomAD_exome_FIN=0.3665;gnomAD_exome_NFE=0.3028;gnomAD_exome_OTH=0.3403;gnomAD_exome_SAS=0.3629;gnomAD_genome_ALL=0.3298;gnomAD_genome_AFR=0.3208;gnomAD_genome_AMR=0.4785;gnomAD_genome_ASJ=0.2252;gnomAD_genome_EAS=0.4109;gnomAD_genome_FIN=0.3633;gnomAD_genome_NFE=0.3127;gnomAD_genome_OTH=0.3231;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-1386.44,-125.692,0:618:34:579:16839:712 1/1:-2081.44,-190.591,0:955:57:894:25690:1145 . . 0/1:-867.621,0,-928.308:917:447:462:13185:13923 . 0/1:-862.53,0,-1106.41:1004:525:471:13433:16317 0/1:-732.995,0,-850.488:829:437:385:11516:13040 1/1:-2018.97,-182.678,0:867:42:819:24240:942 . . . 1/1:-2632.26,-241.162,0:1159:60:1087:31877:1237 . . 0/1:-894.192,0,-978.611:946:483:462:13636:14682 0/1:-495.31,0,-644.344:586:311:272:7795:9717 0/1:-575.988,0,-634.215:631:319:308:8992:9578 . 0/1:-435.986,0,-600.671:540:294:243:6968:8974 . . . . 0/1:-1024.92,0,-1112.85:1093:543:549:15880:16603 0/1:-522.718,0,-775.811:699:389:307:8570:11599 0/1:-653.289,0,-791.074:735:381:347:10082:11753 0/1:-756.904,0,-821.479:815:406:402:11771:12374 . . . . . 0/1:-428.071,0,-631.188:543:301:239:6911:9272 1/1:-2150.34,-204.962,0:930:49:877:25804:890 . 0/1:-399.797,0,-627.901:525:294:228:6499:8978 0/1:-1088.93,0,-1195.33:1170:583:582:16710:17941 0/1:-673.177,0,-798.315:757:387:364:10660:11999 0/1:-730.196,0,-772.594:781:386:390:11248:11734 1/1:-1911.87,-162.153,0:840:47:787:23196:1086 . 0/1:-956.772,0,-949.012:965:463:495:14524:14382 0/1:-763.139,0,-946.476:864:455:405:11937:14195 0/1:-493.153,0,-558.529:529:271:256:7496:8314 . 0/1:-840.428,0,-1097.2:1004:541:458:13258:16283 . . 0/1:-976.066,0,-1162.99:1098:570:523:15341:17623 . . . . 1/1:-1262.85,-123.399,0:562:29:529:15306:578 1/1:-1426.22,-112.587,0:642:42:597:17546:960 0/1:-760.688,0,-707.04:755:357:395:11416:10776 . . 0/1:-754.334,0,-739.344:737:361:371:11296:11256 0/1:-679.762,0,-734.499:747:377:363:10457:11267 0/1:-1040.12,0,-1180.81:1104:566:534:15952:17725 . 0/1:-443.655,0,-552.688:539:279:253:7201:8564 . . 0/1:-759.77,0,-974.009:904:477:418:12005:14411 0/1:-801.683,0,-893.43:847:426:420:12176:13311 0/1:-875.007,0,-1230.55:1036:567:463:13607:17892 1/1:-2415.81,-224.552,0:1026:42:972:28779:942 0/1:-443.941,0,-594.352:609:321:279:7337:9247 . 0/1:-1013.42,0,-982.068:1046:499:540:15462:15176 . 0/1:-907.926,0,-1152.34:1080:566:502:14403:17107 0/1:-586.19,0,-668.121:635:320:308:8982:9886 1/1:-1176.43,-110.636,0:513:23:487:14200:504 0/1:-877.563,0,-953.838:949:485:461:13483:14603 0/1:-795.818,0,-938.651:887:450:430:12480:13898 . . 0/1:-599.478,0,-868.019:742:411:324:9507:12735 . 0/1:-537.154,0,-843.827:696:399:291:8607:12232 . 0/1:-399.808,0,-707.77:562:335:218:6580:10165 . 0/1:-1032.52,0,-1289.85:1188:626:556:16135:19069 . . 0/1:-719.894,0,-991.882:865:471:384:11321:14614 . . 0/1:-881.344,0,-1081.46:912:482:429:13356:15626:482,429 . . 1/1:-1227.36,-79.4672,0:519:32:484:14966:867:32,484 . . . . . . 0/1:-930.138,0,-1019.78:914:462:449:13887:14864:462,449 . . . . . . 0/1:-743.876,0,-1072.82:855:474:380:11540:15292:474,380 . 1/1:-2026.13,-163.102,0:815:39:773:24365:928:39,773 chr10 67862992 . C T 5275.41 . AB=0.506645;ABP=3.24115;AC=1;AF=0.5;AN=2;AO=305;CIGAR=1X;DP=602;DPB=602;DPRA=0;EPP=161.072;EPPR=92.0565;GTI=0;LEN=1;MEANALT=3;MQM=38.8787;MQMR=40.1752;NS=1;NUMALT=1;ODDS=1173.7;PAIRED=0.95082;PAIREDR=0.970803;PAO=0;PQA=0;PQR=0;PRO=0;QA=8495;QR=8180;RO=274;RPL=151;RPP=3.07438;RPPR=19.7798;RPR=154;RUN=1;SAF=165;SAP=7.46004;SAR=140;SF=0;SRF=168;SRP=33.4743;SRR=106;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon14:c.G1900A:p.E634K,CTNNA3:NM_013266:exon14:c.G1900A:p.E634K;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000399361;avsnp147=rs77165728;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=240823;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_provided;CLNDISDB=MedGen:C3810138,OMIM:615616|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=1.19;FATHMM_pred=T;PROVEAN_score=-2.22;PROVEAN_pred=N;VEST3_score=0.744;CADD_raw=6.023;CADD_phred=27.9;DANN_score=0.999;fathmm-MKL_coding_score=0.830;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.775;MetaSVM_pred=T;MetaLR_score=0.203;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.47;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.179;GDI_full_10282015=.;dpsi_max_tissue=3.3310;dpsi_zscore=2.302;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-551.599,0,-530.672:602:274:305:8495:8180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 68040240 . G T 4281.58 . AB=0.456294;ABP=12.501;AC=10;AF=0.5;AN=20;AO=261;CIGAR=1X;DP=4821;DPB=572;DPRA=0;EPP=5.41473;EPPR=13.3248;GTI=0;LEN=1;MEANALT=3;MQM=40.4904;MQMR=39.5888;NS=1;NUMALT=1;ODDS=1162.96;PAIRED=0.988506;PAIREDR=0.967105;PAO=0;PQA=0;PQR=0;PRO=0;QA=7902;QR=9641;RO=304;RPL=118;RPP=8.21019;RPPR=3.26745;RPR=143;RUN=1;SAF=153;SAP=19.8579;SAR=108;SF=0,1;SRF=152;SRP=3.0103;SRR=152;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.C1872A:p.V624V,CTNNA3:NM_013266:exon13:c.C1872A:p.V624V;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0481;esp6500siv2_ea=0.0205;esp6500siv2_all=0.0481;esp6500siv2_ea=0.0205;1000g2015aug_all=0.0690895;avsnp147=rs10997034;Kaviar_AF=0.0360862;Kaviar_AC=5579;Kaviar_AN=154602;ExAC_ALL=0.0380;ExAC_AFR=0.1097;ExAC_AMR=0.0103;ExAC_EAS=0.0490;ExAC_FIN=0.0077;ExAC_NFE=0.0210;ExAC_OTH=0.0310;ExAC_SAS=0.0878;CLNALLELEID=397545;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified;CLNDISDB=MedGen:C3810138,OMIM:615616|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0287;dpsi_zscore=-0.157;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0341;gnomAD_exome_AFR=0.1087;gnomAD_exome_AMR=0.0114;gnomAD_exome_ASJ=0.0662;gnomAD_exome_EAS=0.0485;gnomAD_exome_FIN=0.0061;gnomAD_exome_NFE=0.0181;gnomAD_exome_OTH=0.0278;gnomAD_exome_SAS=0.0840;gnomAD_genome_ALL=0.0441;gnomAD_genome_AFR=0.1089;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0161;gnomAD_genome_OTH=0.0245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-515.617,0,-652.659:572:304:261:7902:9641 . . . 0/1:-519.025,0,-664.837:594:321:268:8026:9805 . . . . . . . . . . . . . . . . 0/1:-492.03,0,-472.12:478:235:239:7364:7128 . . 0/1:-727.285,0,-719.484:727:359:364:11022:10922 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-306.643,0,-498.109:409:233:173:4984:7265 . 0/1:-331.742,0,-551.345:439:252:181:5332:7884 . . . 0/1:-458.429,0,-518.898:501:248:245:7154:7827 . . . . . . 0/1:-448.397,0,-605.225:517:282:235:6958:8695 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-303.712,0,-353.94:312:161:148:4564:5144:161,148 . . . . . . . . 0/1:-219.372,0,-349.817:272:154:117:3494:5009:154,117 . . . . . . . . . chr10 68040325 . C T 7236.96 . AB=0;ABP=0;AC=97;AF=1;AN=150;AO=576;CIGAR=1X;DP=38102;DPB=593;DPRA=0;EPP=19.4321;EPPR=3.87889;GTI=0;LEN=1;MEANALT=3;MQM=39.8559;MQMR=41.8;NS=1;NUMALT=1;ODDS=710.941;PAIRED=0.972222;PAIREDR=0.9;PAO=0;PQA=0;PQR=0;PRO=0;QA=17828;QR=307;RO=10;RPL=289;RPP=3.02538;RPPR=6.48466;RPR=287;RUN=1;SAF=298;SAP=4.51827;SAR=278;SF=0,1;SRF=5;SRP=3.0103;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.G1787A:p.S596N,CTNNA3:NM_013266:exon13:c.G1787A:p.S596N;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.4666;esp6500siv2_ea=0.3621;esp6500siv2_all=0.4666;esp6500siv2_ea=0.3621;1000g2015aug_all=0.485024;avsnp147=rs4548513;Kaviar_AF=0.404141;Kaviar_AC=62481;Kaviar_AN=154602;ExAC_ALL=0.4120;ExAC_AFR=0.6788;ExAC_AMR=0.4061;ExAC_EAS=0.4324;ExAC_FIN=0.4362;ExAC_NFE=0.3747;ExAC_OTH=0.3896;ExAC_SAS=0.3794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.645;MutationAssessor_pred=N;FATHMM_score=1.27;FATHMM_pred=T;PROVEAN_score=2.04;PROVEAN_pred=N;VEST3_score=0.035;CADD_raw=0.202;CADD_phred=4.704;DANN_score=0.115;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.090;phastCons7way_vertebrate=0.200;phastCons20way_mammalian=0.295;SiPhy_29way_logOdds=7.512;GDI_full_10282015=.;dpsi_max_tissue=-0.0807;dpsi_zscore=-0.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM074765#"Alzheimer_disease_increased_risk_association_with";gnomAD_exome_ALL=0.4038;gnomAD_exome_AFR=0.6798;gnomAD_exome_AMR=0.4078;gnomAD_exome_ASJ=0.3934;gnomAD_exome_EAS=0.4315;gnomAD_exome_FIN=0.4340;gnomAD_exome_NFE=0.3655;gnomAD_exome_OTH=0.3869;gnomAD_exome_SAS=0.3717;gnomAD_genome_ALL=0.4831;gnomAD_genome_AFR=0.6821;gnomAD_genome_AMR=0.4101;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.4588;gnomAD_genome_FIN=0.4406;gnomAD_genome_NFE=0.3892;gnomAD_genome_OTH=0.4191;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 1/1:-1495.78,-149.212,0:593:10:576:17828:307 . 0/1:-652.671,0,-608.577:631:302:321:9776:9282 . 1/1:-1329.85,-131.548,0:548:13:526:15889:347 1/1:-1463.03,-143.589,0:607:13:582:17361:412 0/1:-439.836,0,-580.327:500:269:220:6776:8358 1/1:-1873.7,-207.028,0:758:6:733:21913:186 0/1:-565.646,0,-628.38:632:318:296:8718:9556 0/1:-632.41,0,-723.561:681:349:317:9750:10801 0/1:-455.338,0,-605.363:529:286:232:7027:8757 . 0/1:-538.814,0,-449.19:492:222:260:7986:6912 1/1:-1864.19,-179.872,0:744:14:721:22132:479 1/1:-1309.54,-148.519,0:526:5:510:15298:92 . 0/1:-578.02,0,-586.019:586:290:286:8670:8804 1/1:-1006.08,-106.358,0:397:5:387:11831:143 0/1:-452.01,0,-478.68:478:237:224:6820:7160 . . . 0/1:-723.933,0,-603.491:656:300:342:10588:9235 0/1:-599.046,0,-568.15:599:285:305:9118:8740 . 0/1:-604.862,0,-725.477:652:336:301:9251:10595 0/1:-416.083,0,-484.933:457:230:213:6363:7156 . 0/1:-568.831,0,-557.408:554:264:275:8348:8377 0/1:-769.725,0,-872.281:823:416:385:11684:12829 1/1:-1609.15,-165.648,0:651:9:627:18896:293 0/1:-185.316,0,-174.029:187:89:93:2765:2658 . 1/1:-1629.93,-170.252,0:660:9:636:19133:270 . 0/1:-797.05,0,-734.418:751:358:379:11733:11122 0/1:-625.203,0,-732.526:676:348:312:9566:10819 0/1:-132.673,0,-204.922:172:98:69:2077:2954 . 1/1:-1072.93,-96.3687,0:464:16:437:12951:465 1/1:-1110.75,-121.45,0:443:3:431:12998:104 0/1:-659.524,0,-524.876:592:263:320:9637:8178 0/1:-836.113,0,-1063.3:927:495:417:12821:15406 0/1:-589.842,0,-565.596:561:271:284:8660:8464 1/1:-1131.81,-125.389,0:464:5:445:13184:114 0/1:-294.462,0,-313.183:304:151:146:4461:4626 1/1:-1255.5,-135.069,0:490:4:478:14663:113 0/1:-771.051,0,-770.636:761:366:379:11470:11465 . 0/1:-750.854,0,-659.578:718:328:368:11048:10064 . 0/1:-558.186,0,-520.697:546:251:282:8428:7831 0/1:-536.578,0,-509.897:528:254:267:8085:7838 0/1:-418.808,0,-430.921:421:210:203:6243:6359 . 0/1:-470.451,0,-411.203:449:207:235:7153:6390 . 0/1:-509.15,0,-525.693:503:251:247:7554:7773 1/1:-1026.83,-117.486,0:421:4:410:12103:96 . 1/1:-1071.84,-114.848,0:422:4:408:12519:103 0/1:-633.646,0,-526.493:586:266:312:9390:8074 . 0/1:-585.717,0,-542.1:552:266:277:8629:8163 . 0/1:-646.84,0,-653.148:664:327:318:9711:9936 0/1:-371.572,0,-398.426:380:191:180:5532:5891 . 1/1:-1289.61,-119.009,0:538:13:503:15295:412 . 0/1:-764.172,0,-796.268:790:386:382:11554:11894 . 0/1:-577.429,0,-572.223:582:280:291:8707:8595 0/1:-526.085,0,-623.988:580:296:274:8099:9212 . 0/1:-717.875,0,-658.62:676:317:345:10706:9757 0/1:-403.574,0,-445.628:415:210:198:6145:6496 1/1:-1149.97,-126.414,0:475:5:464:13674:167 . . . 0/1:-509.379,0,-520.888:511:251:252:7673:7757 . . 0/1:-684.286,0,-533.876:595:263:326:9912:8195 . . 1/1:-1734.06,-172.902,0:725:16:692:20723:462 . 0/1:-397.187,0,-473.494:426:218:196:6011:6828 . . 0/1:-647.42,0,-634.113:639:308:319:9685:9526 . 0/1:-235.571,0,-302.302:251:133:115:3560:4282:133,115 1/1:-858.562,-84.5744,0:333:6:322:10064:159:6,322 0/1:-309.816,0,-467.443:368:206:151:4807:6565:206,151 0/1:-125.265,0,-221.326:162:96:65:2031:3101:96,65 0/1:-318.938,0,-229.968:268:112:152:4552:3534:112,152 0/1:-455.79,0,-359.688:385:173:205:6515:5418:173,205 . 1/1:-734.977,-60.2921,0:308:11:291:8839:348:11,291 0/1:-270.871,0,-356.023:308:163:136:4228:5153:163,136 0/1:-182.854,0,-283.342:234:129:96:2878:4193:129,96 0/1:-292.633,0,-314.065:290:147:138:4351:4615:147,138 0/1:-223.369,0,-266.15:239:123:111:3408:3885:123,111 1/1:-840.638,-84.755,0:321:5:309:9839:110:5,309 0/1:-340.758,0,-310.514:318:150:161:5019:4686:150,161 1/1:-724.219,-67.9398,0:302:7:287:8639:233:7,287 . . 0/1:-338.337,0,-325.756:327:157:158:4972:4816:157,158 . . chr10 68040380 . C G 11169.70 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=448;CIGAR=1X;DP=470;DPB=470;DPRA=0;EPP=22.8638;EPPR=3.13803;GTI=0;LEN=1;MEANALT=2;MQM=40.2879;MQMR=38.5882;NS=1;NUMALT=1;ODDS=479.067;PAIRED=0.979911;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13736;QR=525;RO=17;RPL=326;RPP=204.725;RPPR=4.1599;RPR=122;RUN=1;SAF=180;SAP=40.5458;SAR=268;SF=0;SRF=11;SRP=6.20364;SRR=6;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=CTNNA3;GeneDetail.refGene=NM_001127384:exon13:c.1733-1G>C,NM_013266:exon13:c.1733-1G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs193155648;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.338e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.056e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=525727;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=5.286;CADD_phred=25.7;DANN_score=0.994;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.061;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.968;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=15.719;GDI_full_10282015=.;dpsi_max_tissue=-3.4452;dpsi_zscore=-2.246;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.104e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.555e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.236e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.675e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1145.29,-94.1591,0:470:17:448:13736:525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 68138902 . T C 1846.09 . AB=0.524793;ABP=4.30242;AC=1;AF=0.5;AN=2;AO=127;CIGAR=1X;DP=242;DPB=242;DPRA=0;EPP=19.4417;EPPR=25.8305;GTI=0;LEN=1;MEANALT=2;MQM=39.622;MQMR=38.9182;NS=1;NUMALT=1;ODDS=393.674;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3514;QR=3345;RO=110;RPL=78;RPP=17.3899;RPPR=23.2247;RPR=49;RUN=1;SAF=126;SAP=270.17;SAR=1;SF=0;SRF=109;SRP=233.265;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs372686443;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6184;dpsi_zscore=-1.764;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.494e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.685e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-229.674,0,-212.162:242:110:127:3514:3345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 68139039 . G A 5979.35 . AB=0.467359;ABP=9.24765;AC=2;AF=0.5;AN=4;AO=315;CIGAR=1X;DP=1313;DPB=674;DPRA=0;EPP=5.49888;EPPR=33.1513;GTI=0;LEN=1;MEANALT=3;MQM=37.8286;MQMR=40.2245;NS=1;NUMALT=1;ODDS=1333.16;PAIRED=0.961905;PAIREDR=0.953353;PAO=0;PQA=0;PQR=0;PRO=0;QA=9420;QR=10705;RO=343;RPL=169;RPP=6.65699;RPPR=33.1513;RPR=146;RUN=1;SAF=164;SAP=4.17531;SAR=151;SF=0,1;SRF=176;SRP=3.5231;SRR=167;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon12:c.C1603T:p.R535C,CTNNA3:NM_013266:exon12:c.C1603T:p.R535C;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0115;esp6500siv2_ea=0.0151;esp6500siv2_all=0.0115;esp6500siv2_ea=0.0151;1000g2015aug_all=0.00499201;avsnp147=rs41274090;Kaviar_AF=0.0114552;Kaviar_AC=1771;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0049;ExAC_AMR=0.0032;ExAC_EAS=0;ExAC_FIN=0.0126;ExAC_NFE=0.0165;ExAC_OTH=0.0176;ExAC_SAS=0.0088;CLNALLELEID=240825;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.218;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_pred=M;FATHMM_score=1.19;FATHMM_pred=T;PROVEAN_score=-4.33;PROVEAN_pred=D;VEST3_score=0.353;CADD_raw=4.125;CADD_phred=23.8;DANN_score=0.999;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.899;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_pred=T;integrated_fitCons_score=0.560;integrated_confidence_value=0;GERP++_RS=5.77;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.984;SiPhy_29way_logOdds=17.477;GDI_full_10282015=.;dpsi_max_tissue=-0.4408;dpsi_zscore=-1.029;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0116;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.0034;gnomAD_exome_ASJ=0.0586;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0121;gnomAD_exome_NFE=0.0133;gnomAD_exome_OTH=0.0133;gnomAD_exome_SAS=0.0081;gnomAD_genome_ALL=0.0106;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0139;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-587.52,0,-725.177:674:343:315:9420:10705 . . . . . . . . . . . . . . . 0/1:-697.988,0,-625.593:639:304:321:10294:9378:304,321 . . . . . . . chr10 68280359 . A G 6233.75 . AB=0.486919;ABP=4.03291;AC=1;AF=0.5;AN=2;AO=335;CIGAR=1X;DP=688;DPB=688;DPRA=0;EPP=63.9995;EPPR=47.933;GTI=0;LEN=1;MEANALT=3;MQM=39.0358;MQMR=38.8408;NS=1;NUMALT=1;ODDS=1435.37;PAIRED=0.919403;PAIREDR=0.957958;PAO=0;PQA=0;PQR=0;PRO=0;QA=9990;QR=10296;RO=333;RPL=112;RPP=82.8751;RPPR=57.0102;RPR=223;RUN=1;SAF=189;SAP=14.9955;SAR=146;SF=0;SRF=188;SRP=15.0675;SRR=145;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0431;esp6500siv2_ea=.;esp6500siv2_all=0.0431;esp6500siv2_ea=.;1000g2015aug_all=0.0401358;avsnp147=rs78806593;Kaviar_AF=0.0111706;Kaviar_AC=1727;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.1282;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0034;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0531;dpsi_zscore=-0.279;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0090;gnomAD_exome_AFR=0.1296;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0045;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0360;gnomAD_genome_AFR=0.1259;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0021;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-646.451,0,-666.313:688:333:335:9990:10296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 68280453 . T A 6340.83 . AB=0.451206;ABP=21.0228;AC=2;AF=0.5;AN=4;AO=393;CIGAR=1X;DP=1473;DPB=871;DPRA=0;EPP=17.3818;EPPR=31.3606;GTI=0;LEN=1;MEANALT=3;MQM=40.4427;MQMR=39.5773;NS=1;NUMALT=1;ODDS=1623.85;PAIRED=0.984733;PAIREDR=0.948498;PAO=0;PQA=0;PQR=0;PRO=0;QA=11252;QR=14798;RO=466;RPL=155;RPP=41.0746;RPPR=39.0959;RPR=238;RUN=1;SAF=205;SAP=4.60713;SAR=188;SF=0;SRF=259;SRP=15.6104;SRR=207;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon11:c.A1453T:p.T485S,CTNNA3:NM_013266:exon11:c.A1453T:p.T485S;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000599042;avsnp147=rs140913916;Kaviar_AF=0.0010867;Kaviar_AC=168;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0014;ExAC_NFE=0.0013;ExAC_OTH=0.0044;ExAC_SAS=0.0003;CLNALLELEID=397763;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.455;SIFT_pred=T;Polyphen2_HDIV_score=0.284;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.113;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.28;FATHMM_pred=T;PROVEAN_score=0.27;PROVEAN_pred=N;VEST3_score=0.294;CADD_raw=1.014;CADD_phred=10.74;DANN_score=0.596;fathmm-MKL_coding_score=0.630;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.056;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=4.23;phyloP7way_vertebrate=0.015;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.897;phastCons20way_mammalian=0.055;SiPhy_29way_logOdds=6.706;GDI_full_10282015=.;dpsi_max_tissue=-0.0676;dpsi_zscore=-0.339;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-719.751,0,-994.144:871:466:393:11252:14798 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-574.738,0,-646.555:602:302:297:8682:9526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 68979348 . T C 2933.53 . AB=0.447205;ABP=10.806;AC=3;AF=0.5;AN=6;AO=144;CIGAR=1X;DP=985;DPB=322;DPRA=0;EPP=43.7857;EPPR=7.54152;GTI=0;LEN=1;MEANALT=3;MQM=38.4722;MQMR=39.5029;NS=1;NUMALT=1;ODDS=549.163;PAIRED=0.979167;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4490;QR=5569;RO=173;RPL=26;RPP=130.645;RPPR=106.952;RPR=118;RUN=1;SAF=124;SAP=166.112;SAR=20;SF=0,1;SRF=137;SRP=131.052;SRR=36;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0010;1000g2015aug_all=0.0323482;avsnp147=rs77409659;Kaviar_AF=0.009159;Kaviar_AC=1416;Kaviar_AN=154602;ExAC_ALL=0.0098;ExAC_AFR=0.0935;ExAC_AMR=0.0079;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0011;ExAC_OTH=0.0069;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2090;dpsi_zscore=0.740;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0076;gnomAD_exome_AFR=0.0909;gnomAD_exome_AMR=0.0075;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=5.808e-05;gnomAD_exome_FIN=4.574e-05;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0084;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0244;gnomAD_genome_AFR=0.0834;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-281.79,0,-374.341:322:173:144:4490:5569 . . . . . . . . . . . . . . . . 0/1:-393.434,0,-379.452:382:175:196:5893:5822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-328.022,0,-292.667:281:130:147:4797:4373:130,147 . . . . . . . . . . . . . chr10 68979411 . G A 8106.94 . AB=0.48991;ABP=3.79904;AC=1;AF=0.5;AN=2;AO=437;CIGAR=1X;DP=892;DPB=892;DPRA=0;EPP=14.941;EPPR=4.94911;GTI=0;LEN=1;MEANALT=3;MQM=38.9359;MQMR=38.8728;NS=1;NUMALT=1;ODDS=1866.69;PAIRED=0.961098;PAIREDR=0.953125;PAO=0;PQA=0;PQR=0;PRO=0;QA=13263;QR=13841;RO=448;RPL=130;RPP=158.685;RPPR=127.094;RPR=307;RUN=1;SAF=323;SAP=220.063;SAR=114;SF=0;SRF=322;SRP=189.214;SRR=126;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon6:c.C797T:p.P266L,CTNNA3:NM_013266:exon6:c.C797T:p.P266L,CTNNA3:NM_001291133:exon7:c.C833T:p.P278L;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.234;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.465;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=1.53;FATHMM_pred=T;PROVEAN_score=-0.41;PROVEAN_pred=N;VEST3_score=0.071;CADD_raw=-0.583;CADD_phred=0.137;DANN_score=0.419;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.064;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.168;phyloP7way_vertebrate=-1.155;phyloP20way_mammalian=0.099;phastCons7way_vertebrate=0.137;phastCons20way_mammalian=0.309;SiPhy_29way_logOdds=5.226;GDI_full_10282015=.;dpsi_max_tissue=-0.2705;dpsi_zscore=-0.808;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.958e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-858.292,0,-899.398:892:448:437:13263:13841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69281585 . A C 7007.08 . AB=0.467714;ABP=8.19834;AC=21;AF=0.5;AN=44;AO=268;CIGAR=1X;DP=18049;DPB=573;DPRA=0;EPP=3.30199;EPPR=3.35916;GTI=0;LEN=1;MEANALT=1;MQM=37.4067;MQMR=38.6787;NS=1;NUMALT=1;ODDS=983.71;PAIRED=0.962687;PAIREDR=0.97377;PAO=0;PQA=0;PQR=0;PRO=0;QA=7665;QR=8461;RO=305;RPL=108;RPP=24.9195;RPPR=18.7375;RPR=160;RUN=1;SAF=221;SAP=248.322;SAR=47;SF=0,1;SRF=226;SRP=156.857;SRR=79;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1027;esp6500siv2_ea=0.1113;esp6500siv2_all=0.1027;esp6500siv2_ea=0.1113;1000g2015aug_all=0.187101;avsnp147=rs10997691;Kaviar_AF=0.156149;Kaviar_AC=24141;Kaviar_AN=154602;ExAC_ALL=0.1641;ExAC_AFR=0.0860;ExAC_AMR=0.1799;ExAC_EAS=0.2932;ExAC_FIN=0.2297;ExAC_NFE=0.1131;ExAC_OTH=0.1774;ExAC_SAS=0.3171;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0663;dpsi_zscore=1.560;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1655;gnomAD_exome_AFR=0.0840;gnomAD_exome_AMR=0.1721;gnomAD_exome_ASJ=0.1017;gnomAD_exome_EAS=0.2895;gnomAD_exome_FIN=0.2328;gnomAD_exome_NFE=0.1108;gnomAD_exome_OTH=0.1421;gnomAD_exome_SAS=0.3043;gnomAD_genome_ALL=0.1434;gnomAD_genome_AFR=0.0881;gnomAD_genome_AMR=0.1826;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.3145;gnomAD_genome_FIN=0.2184;gnomAD_genome_NFE=0.1357;gnomAD_genome_OTH=0.1741;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-463.895,0,-538.531:573:305:268:7665:8461 . . . . . . . . . 0/1:-643.021,0,-645.916:740:371:364:10347:10294 . . . . . . 0/1:-572.986,0,-681.806:714:374:339:9325:10544 0/1:-955.972,0,-938.408:1058:525:528:15064:14742 . 0/1:-912.072,0,-916.438:1018:516:492:14302:14387 . . . 0/1:-1035.99,0,-855.322:1040:475:560:15928:13501 . . . . . . . . . . . 0/1:-315.746,0,-443.596:438:251:186:5272:6756 . . . . 0/1:-1003.78,0,-1008:1125:579:538:15635:16014 . . 0/1:-449.855,0,-440.235:505:251:253:7066:6909 . . . . . 0/1:-823.89,0,-980.102:1006:528:470:13266:14937 0/1:-464.475,0,-519.974:587:293:291:7862:8342 0/1:-578.898,0,-553.844:649:311:331:9259:8761 . . . . . . . . 0/1:-968.309,0,-1076.62:1150:599:546:15490:16954 . . . . . . . . . . . . 0/1:-894.776,0,-808.933:942:448:487:13852:12858 . 0/1:-552.955,0,-487.365:624:299:323:8909:8321 . . . . . . . 0/1:-882.567,0,-898.038:1012:513:496:14030:14333 . 0/1:-672.168,0,-1025.45:956:546:404:11325:15418 . . . . . . 1/1:-2059.03,-205.669,0:802:21:781:24344:436:21,781 . . 0/1:-582.766,0,-482.796:556:262:292:8653:7541:262,292 . . 0/1:-956.258,0,-764.21:869:407:456:14068:11879:407,456 . . 0/0:0,-159.666,-1787.97:784:736:46:880:21786:736,46 . . 0/0:0,-186.746,-2067.55:901:842:49:921:25057:842,49 . . . . . . . chr10 69281701 . A T 7934.08 . AB=0.461826;ABP=19.9205;AC=10;AF=0.5;AN=20;AO=617;CIGAR=1X;DP=10112;DPB=1336;DPRA=0;EPP=242.756;EPPR=277.872;GTI=0;LEN=1;MEANALT=3;MQM=38.4392;MQMR=39.9462;NS=1;NUMALT=1;ODDS=2309.86;PAIRED=0.969206;PAIREDR=0.992526;PAO=0;PQA=0;PQR=0;PRO=0;QA=16797;QR=19484;RO=669;RPL=355;RPP=33.4496;RPPR=5.03896;RPR=262;RUN=1;SAF=291;SAP=7.32157;SAR=326;SF=0,1;SRF=302;SRP=16.724;SRR=367;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon5:c.T478A:p.S160T,CTNNA3:NM_013266:exon5:c.T478A:p.S160T,CTNNA3:NM_001291133:exon6:c.T514A:p.S172T;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0253;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0253;1000g2015aug_all=0.0113818;avsnp147=rs61749223;Kaviar_AF=0.0220114;Kaviar_AC=3403;Kaviar_AN=154602;ExAC_ALL=0.0226;ExAC_AFR=0.0038;ExAC_AMR=0.0164;ExAC_EAS=0.0001;ExAC_FIN=0.0328;ExAC_NFE=0.0252;ExAC_OTH=0.0255;ExAC_SAS=0.0361;CLNALLELEID=240829;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.102;SIFT_pred=T;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.797;MutationTaster_pred=N;MutationAssessor_score=-0.14;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_pred=N;VEST3_score=0.207;CADD_raw=2.461;CADD_phred=19.22;DANN_score=0.957;fathmm-MKL_coding_score=0.714;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.040;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.526;integrated_confidence_value=0;GERP++_RS=5.19;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=11.439;GDI_full_10282015=.;dpsi_max_tissue=3.0295;dpsi_zscore=2.240;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0234;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0174;gnomAD_exome_ASJ=0.0331;gnomAD_exome_EAS=5.804e-05;gnomAD_exome_FIN=0.0307;gnomAD_exome_NFE=0.0247;gnomAD_exome_OTH=0.0227;gnomAD_exome_SAS=0.0397;gnomAD_genome_ALL=0.0197;gnomAD_genome_AFR=0.0055;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0332;gnomAD_genome_NFE=0.0270;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1039.93,0,-1288.71:1336:669:617:16797:19484 . . . . 0/1:-464.782,0,-605.991:630:314:296:7612:9186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-744.348,0,-740.552:862:401:436:11630:11569 . 0/1:-859.908,0,-900.235:1014:484:492:13579:13947 . . . . . . . . . . 0/1:-846.676,0,-1183.92:1178:610:522:13773:17834 . . . . . . . . . . . . . . . . 0/1:-922.684,0,-1097.65:1017:528:469:14069:16157:528,469 0/1:-894.34,0,-992.787:929:467:443:13500:14671:467,443 . . . 0/1:-979.514,0,-1126.67:1065:549:500:14876:16795:549,500 . 0/1:-1187.88,0,-890.207:1073:467:577:17294:14056:467,577 . 0/1:-964.952,0,-1068.25:1008:503:473:14639:15803:503,473 . . chr10 69281732 . A G 5467.93 . AB=0.443213;ABP=23.2333;AC=24;AF=0.5;AN=48;AO=320;CIGAR=1X;DP=17156;DPB=722;DPRA=0;EPP=48.6384;EPPR=40.2088;GTI=0;LEN=1;MEANALT=3;MQM=38.8281;MQMR=39.4125;NS=1;NUMALT=1;ODDS=1203.23;PAIRED=0.996875;PAIREDR=0.984334;PAO=0;PQA=0;PQR=0;PRO=0;QA=8851;QR=11942;RO=383;RPL=164;RPP=3.44459;RPPR=11.6338;RPR=156;RUN=1;SAF=101;SAP=97.4965;SAR=219;SF=0,1;SRF=102;SRP=184.671;SRR=281;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0610;esp6500siv2_ea=0.0592;esp6500siv2_all=0.0610;esp6500siv2_ea=0.0592;1000g2015aug_all=0.0593051;avsnp147=rs7903421;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=0.0598;ExAC_AFR=0.0658;ExAC_AMR=0.0391;ExAC_EAS=0.0031;ExAC_FIN=0.0397;ExAC_NFE=0.0535;ExAC_OTH=0.0668;ExAC_SAS=0.1364;CLNALLELEID=503661;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-14.2795;dpsi_zscore=-3.065;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0577;gnomAD_exome_AFR=0.0623;gnomAD_exome_AMR=0.0373;gnomAD_exome_ASJ=0.0498;gnomAD_exome_EAS=0.0032;gnomAD_exome_FIN=0.0369;gnomAD_exome_NFE=0.0553;gnomAD_exome_OTH=0.0671;gnomAD_exome_SAS=0.1331;gnomAD_genome_ALL=0.0512;gnomAD_genome_AFR=0.0619;gnomAD_genome_AMR=0.0358;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.0415;gnomAD_genome_NFE=0.0539;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-545.642,0,-813.25:722:383:320:8851:11942 0/1:-503.531,0,-695.56:649:337:287:8000:10363 . . . . . . . . . . . . . 0/1:-490.629,0,-505.793:552:261:270:7672:7917 . . . . . . . . 0/1:-717.706,0,-1128.62:1003:542:425:11755:16680 . . . . 0/1:-382.093,0,-547.575:490:260:213:6255:8118 . 0/1:-623.54,0,-799.751:788:402:353:9981:12108 0/1:-306.024,0,-366.486:372:186:171:4850:5562 . . . . 0/1:-883.379,0,-1093.25:1048:529:489:13985:16296 . . . . 0/1:-575.312,0,-1055.11:852:472:354:9603:15062 . . . . . . . 0/1:-302.421,0,-619.15:526:298:199:5336:9108 . . . . . . . . . . . . . . 0/1:-672.22,0,-1041.13:896:486:376:10779:15424 . 0/1:-611.467,0,-630.759:668:312:330:9393:9584 . 0/1:-636.582,0,-752.459:751:364:355:9977:11278 . 0/1:-475.76,0,-546.121:537:261:260:7437:8135 0/1:-349.804,0,-489.113:466:238:203:5695:7384 . . . . . . . 0/1:-617.194,0,-1040.4:863:483:357:10057:15030 . . . 0/1:-442.17,0,-812.82:687:371:273:7505:11711 . . . . . . . . . . 0/1:-746.827,0,-900.773:807:415:369:11398:13145:415,369 . 0/1:-717.271,0,-795.325:733:373:346:10775:11772:373,346 0/1:-633.575,0,-812.754:692:366:312:9589:11790:366,312 . . . 0/1:-729.29,0,-907.369:797:418:352:11093:13244:418,352 . 0/1:-862.793,0,-698.951:786:351:412:12586:10723:351,412 . 0/1:-700.504,0,-825.189:752:383:351:10651:12099:383,351 . 0/1:-734.206,0,-749.334:719:347:354:10973:11077:347,354 chr10 69299372 . T G 3895.88 . AB=0.406852;ABP=38.2049;AC=7;AF=0.5;AN=14;AO=190;CIGAR=1X;DP=3278;DPB=467;DPRA=0;EPP=4.65605;EPPR=3.13803;GTI=0;LEN=1;MEANALT=3;MQM=38.7368;MQMR=39.0882;NS=1;NUMALT=1;ODDS=707.251;PAIRED=0.963158;PAIREDR=0.922794;PAO=0;PQA=0;PQR=0;PRO=0;QA=5367;QR=8468;RO=272;RPL=76;RPP=19.5135;RPPR=46.7271;RPR=114;RUN=1;SAF=117;SAP=25.1365;SAR=73;SF=0,1;SRF=139;SRP=3.2977;SRR=133;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon4:c.A348C:p.P116P,CTNNA3:NM_013266:exon4:c.A348C:p.P116P,CTNNA3:NM_001291133:exon5:c.A384C:p.P128P;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0226;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0226;1000g2015aug_all=0.0147764;avsnp147=rs61749224;Kaviar_AF=0.0173154;Kaviar_AC=2677;Kaviar_AN=154602;ExAC_ALL=0.0174;ExAC_AFR=0.0102;ExAC_AMR=0.0121;ExAC_EAS=0.0002;ExAC_FIN=0.0021;ExAC_NFE=0.0183;ExAC_OTH=0.0221;ExAC_SAS=0.0368;CLNALLELEID=221985;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1105;dpsi_zscore=-0.480;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0171;gnomAD_exome_AFR=0.0101;gnomAD_exome_AMR=0.0119;gnomAD_exome_ASJ=0.0130;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0199;gnomAD_exome_OTH=0.0267;gnomAD_exome_SAS=0.0357;gnomAD_genome_ALL=0.0124;gnomAD_genome_AFR=0.0097;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0031;gnomAD_genome_NFE=0.0176;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-321.508,0,-577.089:467:272:190:5367:8468 . . . . . . . . . . . . . . 0/1:-247.527,0,-357.777:324:180:143:4119:5376 . . . . . . . . . . . . . . . . . . . . . 0/1:-554.123,0,-748.45:677:363:311:8945:11095 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-585.417,0,-566.409:618:291:318:9027:8736 . . . . . 0/1:-309.847,0,-345.935:340:172:166:4870:5304 . . . . . . . . . . . . 0/1:-414.314,0,-430.565:430:207:219:6292:6505 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-400.741,0,-483.691:422:222:198:6086:7047:222,198 chr10 69299446 . T A 4094.22 . AB=0.460808;ABP=8.62724;AC=37;AF=0.5;AN=70;AO=194;CIGAR=1X;DP=14415;DPB=421;DPRA=0;EPP=28.7993;EPPR=18.2306;GTI=0;LEN=1;MEANALT=3;MQM=38.3505;MQMR=39.4977;NS=1;NUMALT=1;ODDS=733.152;PAIRED=0.979381;PAIREDR=0.97235;PAO=0;PQA=0;PQR=0;PRO=0;QA=5334;QR=5932;RO=217;RPL=113;RPP=14.4721;RPPR=42.7272;RPR=81;RUN=1;SAF=108;SAP=8.42779;SAR=86;SF=0,1;SRF=97;SRP=8.30389;SRR=120;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.2195;esp6500siv2_ea=0.1024;esp6500siv2_all=0.2195;esp6500siv2_ea=0.1024;1000g2015aug_all=0.195487;avsnp147=rs1909654;Kaviar_AF=0.128957;Kaviar_AC=19937;Kaviar_AN=154602;ExAC_ALL=0.1330;ExAC_AFR=0.4656;ExAC_AMR=0.0679;ExAC_EAS=0.0032;ExAC_FIN=0.0911;ExAC_NFE=0.1056;ExAC_OTH=0.1188;ExAC_SAS=0.1667;CLNALLELEID=503373;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1792;dpsi_zscore=0.681;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1208;gnomAD_exome_AFR=0.4654;gnomAD_exome_AMR=0.0680;gnomAD_exome_ASJ=0.0763;gnomAD_exome_EAS=0.0034;gnomAD_exome_FIN=0.0910;gnomAD_exome_NFE=0.1047;gnomAD_exome_OTH=0.1189;gnomAD_exome_SAS=0.1668;gnomAD_genome_ALL=0.1957;gnomAD_genome_AFR=0.4685;gnomAD_genome_AMR=0.0871;gnomAD_genome_ASJ=0.07;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.0945;gnomAD_genome_NFE=0.0960;gnomAD_genome_OTH=0.1102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-329.394,0,-382.326:421:217:194:5334:5932 . . . . 0/1:-438.098,0,-453.223:471:242:224:6728:6781 . 0/1:-379.374,0,-420.045:430:223:201:5951:6411 0/1:-242.068,0,-360.766:325:187:134:3985:5354 . . . . . . . . 0/1:-706.001,0,-638.181:714:352:357:10672:10076 . . 0/1:-393.64,0,-300.364:355:161:190:5796:4734 . 0/1:-305.138,0,-332.034:345:171:167:4778:5015 . . . . . 0/1:-312.968,0,-244.973:313:145:164:4861:3967 . . 0/1:-530.295,0,-577.363:607:302:289:8192:8701 0/1:-432.368,0,-451.034:491:242:237:6739:6857 . . . 0/1:-201.684,0,-243.203:247:132:111:3200:3809 . 0/1:-287.071,0,-411.45:375:206:158:4576:6105 0/1:-161.196,0,-177.593:185:96:85:2458:2687 . . 0/1:-406.524,0,-330.835:399:182:213:6170:5282 . 0/1:-609.3,0,-558.412:627:301:309:9223:8622 . 0/1:-368.561,0,-383.975:399:209:185:5612:5855 . . 0/1:-571.92,0,-435.501:555:246:301:8698:7142 . . . . . . . 1/1:-652.64,-60.1735,0:296:15:279:8088:338 . . . . . . . . . . . . . . 0/1:-672.085,0,-459.154:594:252:335:9947:7341 . 0/1:-502.534,0,-390.856:477:214:255:7500:6321 0/1:-516.656,0,-565.584:579:303:270:8109:8535 0/1:-447.887,0,-383.511:462:211:242:6788:6044 . 0/1:-366.658,0,-282.129:345:156:187:5525:4517 0/1:-255.842,0,-255.562:272:132:137:3918:3895 . . . 0/1:-411.618,0,-396.586:438:213:216:6428:6143 . . . 0/1:-455.151,0,-379.081:445:215:229:6935:5944 . . . 0/1:-350.156,0,-370.153:380:195:183:5425:5653 . . . . . . . . . . 0/1:-375.056,0,-326.483:351:170:178:5487:5053:170,178 . 0/1:-336.862,0,-325.533:333:162:170:5233:4865:162,170 0/1:-303.024,0,-343.126:316:163:151:4702:5041:163,151 . . . 1/1:-996.596,-105.178,0:383:5:377:11681:117:5,377 0/1:-315.775,0,-427.112:363:201:158:4898:6157:201,158 0/1:-412.966,0,-348.284:369:181:187:6036:5296:181,187 . 0/1:-344.914,0,-391.415:360:187:169:5271:5709:187,169 . 0/1:-432.204,0,-360.091:393:187:204:6362:5470:187,204 chr10 69366602 . T C 7960.92 . AB=0.507042;ABP=3.37731;AC=68;AF=0.5;AN=120;AO=432;CIGAR=1X;DP=45752;DPB=852;DPRA=0;EPP=24.906;EPPR=20.6041;GTI=0;LEN=1;MEANALT=3;MQM=39.3472;MQMR=39.9875;NS=1;NUMALT=1;ODDS=1712.83;PAIRED=0.969907;PAIREDR=0.987531;PAO=0;PQA=0;PQR=0;PRO=0;QA=12476;QR=12234;RO=401;RPL=136;RPP=131.69;RPPR=161.355;RPR=296;RUN=1;SAF=363;SAP=437.486;SAR=69;SF=0,1;SRF=326;SRP=344.17;SRR=75;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.4562;esp6500siv2_ea=0.2893;esp6500siv2_all=0.4562;esp6500siv2_ea=0.2893;1000g2015aug_all=0.529952;avsnp147=rs3750863;Kaviar_AF=0.367052;Kaviar_AC=56747;Kaviar_AN=154602;ExAC_ALL=0.3811;ExAC_AFR=0.8004;ExAC_AMR=0.3845;ExAC_EAS=0.5341;ExAC_FIN=0.3173;ExAC_NFE=0.2901;ExAC_OTH=0.3770;ExAC_SAS=0.4284;CLNALLELEID=502840;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0754;dpsi_zscore=0.401;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3675;gnomAD_exome_AFR=0.8098;gnomAD_exome_AMR=0.3761;gnomAD_exome_ASJ=0.2579;gnomAD_exome_EAS=0.5383;gnomAD_exome_FIN=0.3104;gnomAD_exome_NFE=0.2871;gnomAD_exome_OTH=0.3319;gnomAD_exome_SAS=0.4134;gnomAD_genome_ALL=0.4539;gnomAD_genome_AFR=0.8097;gnomAD_genome_AMR=0.3616;gnomAD_genome_ASJ=0.2633;gnomAD_genome_EAS=0.5074;gnomAD_genome_FIN=0.3096;gnomAD_genome_NFE=0.2905;gnomAD_genome_OTH=0.3507;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-818.47,0,-806.635:852:401:432:12476:12234 . . 0/1:-912.632,0,-1112.26:1032:539:475:14175:16631 . 0/1:-882.04,0,-905.5:928:448:462:13551:13780 0/1:-731.663,0,-741.777:761:367:376:11228:11232 . . . . 0/1:-597.281,0,-651.054:654:319:324:9479:9831 . . 0/1:-534.803,0,-510.011:564:267:282:8302:7979 . 0/1:-814.641,0,-836.359:830:409:408:12356:12554 0/1:-536.506,0,-516.356:565:264:286:8301:8054 0/1:-603.279,0,-641.75:622:303:307:9315:9621 . 0/1:-445.545,0,-488.189:488:245:235:7020:7534 . . 0/1:-561.542,0,-491.773:599:269:306:8761:7936 . 0/1:-889.425,0,-843.376:900:429:458:13490:13012 0/1:-533.612,0,-675.996:653:339:297:8573:10356 . 0/1:-688.602,0,-685.71:735:358:358:10483:10573 0/1:-1011.02,0,-1085.94:1066:524:522:15565:16241 0/1:-756.505,0,-973.6:881:467:399:11809:14385 1/1:-1155,-105.393,0:483:16:461:13867:459 0/1:-799.521,0,-919.656:885:458:405:12272:13856 . 0/1:-547.759,0,-508.291:542:251:277:8166:7855 . 0/1:-757.472,0,-893.094:870:442:409:11918:13514 0/1:-450.136,0,-447.302:449:214:225:6877:6718 . . . 0/1:-884.151,0,-703.216:825:368:437:13109:11176 0/1:-1054.35,0,-1094.44:1074:534:523:15962:16354 . 0/1:-751.304,0,-812.023:810:394:399:11589:12255 . 0/1:-751.654,0,-619.317:681:300:366:11013:9396 0/1:-1050.6,0,-952.724:1008:475:517:15584:14505 0/1:-792.129,0,-867.88:856:435:400:12077:13097 . . 0/1:-921.964,0,-916.546:955:451:475:14059:13886 0/1:-622.611,0,-649.636:690:338:333:9828:10100 . . 1/1:-1195.84,-126.113,0:509:9:494:14605:286 . 0/1:-759.205,0,-814.8:800:400:392:11642:12341 0/1:-572.756,0,-525.846:587:278:290:8814:8323 . 0/1:-663.944,0,-670.353:707:335:350:10296:10305 0/1:-436.733,0,-691.521:611:345:247:7226:10453 . . 0/1:-417.141,0,-578.005:525:284:228:6727:8601 . . . . . 0/1:-873.078,0,-898.604:910:443:445:13252:13562 . 1/1:-1853.73,-202.151,0:749:9:726:21770:240 0/1:-1063.78,0,-928.03:1039:465:555:16073:14354 0/1:-933.47,0,-757.084:870:383:466:13773:11786 . 0/1:-596.496,0,-595.44:605:294:299:9046:9015 0/1:-469.408,0,-543.417:534:276:247:7295:8222 0/1:-913.722,0,-871.692:903:430:454:13715:13319 1/1:-2314.43,-257.783,0:966:16:932:27366:392 0/1:-801.552,0,-910.671:874:438:414:12266:13528 0/1:-622.326,0,-853.007:753:411:335:9986:12710 0/1:-586.766,0,-715.162:696:359:320:9359:10798 1/1:-1795.72,-170.609,0:755:21:723:21605:623 0/1:-574.839,0,-566.849:598:291:295:8777:8665 . . . . 0/1:-765.42,0,-763.96:815:399:401:11765:11794 . . . . . 0/1:-915.659,0,-922.717:869:428:429:13602:13514:428,429 . 1/1:-1365.99,-135.778,0:519:7:507:15970:215:7,507 . . 0/1:-746.181,0,-886.68:786:412:361:11324:12995:412,361 . 0/1:-871.916,0,-774.685:783:367:404:12686:11536:367,404 1/1:-2072.88,-179.013,0:834:26:791:24858:791:26,791 . . . 0/1:-923.47,0,-731.522:797:356:432:13465:11158:356,432 0/1:-897.114,0,-905.928:867:429:426:13268:13410:429,426 1/1:-2136.08,-205.116,0:861:17:826:25387:551:17,826 . 0/1:-857.112,0,-733.198:765:355:396:12472:11041:355,396 0/1:-776.308,0,-915.33:816:420:379:11789:13290:420,379 0/1:-777.789,0,-837.862:791:396:378:11697:12422:396,378 chr10 69881837 . T C 6805.65 . AB=0.515588;ABP=4.77039;AC=1;AF=0.5;AN=2;AO=430;CIGAR=1X;DP=834;DPB=834;DPRA=0;EPP=8.84803;EPPR=3.69633;GTI=0;LEN=1;MEANALT=3;MQM=36.6186;MQMR=37.5065;NS=1;NUMALT=1;ODDS=1488.27;PAIRED=0.972093;PAIREDR=0.97389;PAO=0;PQA=0;PQR=0;PRO=0;QA=11513;QR=10896;RO=383;RPL=199;RPP=8.18143;RPPR=3.06133;RPR=231;RUN=1;SAF=153;SAP=80.6581;SAR=277;SF=0;SRF=145;SRP=52.047;SRR=238;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon2:c.T642C:p.P214P,MYPN:NM_001256267:exon3:c.T642C:p.P214P;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769861237;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.473e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.999e-05;ExAC_OTH=0;ExAC_SAS=6.058e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2391;dpsi_zscore=-0.757;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.625e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.688e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-697.91,0,-659.675:834:383:430:11513:10896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69896557 . G C 3684.86 . AB=0.476773;ABP=4.92693;AC=1;AF=0.5;AN=2;AO=195;CIGAR=1X;DP=409;DPB=409;DPRA=0;EPP=4.89224;EPPR=25.3153;GTI=0;LEN=1;MEANALT=3;MQM=39.4513;MQMR=40.4709;NS=1;NUMALT=1;ODDS=848.47;PAIRED=0.938462;PAIREDR=0.980583;PAO=0;PQA=0;PQR=0;PRO=0;QA=5925;QR=6559;RO=206;RPL=139;RPP=79.7245;RPPR=67.1425;RPR=56;RUN=1;SAF=65;SAP=50.0589;SAR=130;SF=0;SRF=64;SRP=67.1425;SRR=142;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00139776;avsnp147=rs537055902;Kaviar_AF=0.0007684;Kaviar_AC=20;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.9271;dpsi_zscore=2.218;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0046;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-388.519,0,-445.696:409:206:195:5925:6559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69905257 . C T 7692.53 . AB=0.504516;ABP=3.14759;AC=1;AF=0.5;AN=2;AO=391;CIGAR=1X;DP=775;DPB=775;DPRA=0;EPP=5.45945;EPPR=8.06905;GTI=0;LEN=1;MEANALT=3;MQM=40.1407;MQMR=39.2078;NS=1;NUMALT=1;ODDS=1517.5;PAIRED=0.97954;PAIREDR=0.99446;PAO=0;PQA=0;PQR=0;PRO=0;QA=11652;QR=10580;RO=361;RPL=183;RPP=6.48132;RPPR=31.6485;RPR=208;RUN=1;SAF=136;SAP=81.6554;SAR=255;SF=0;SRF=144;SRP=35.0651;SRR=217;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon4:c.C1104T:p.G368G,MYPN:NM_001256267:exon5:c.C1104T:p.G368G,MYPN:NM_001256268:exon8:c.C222T:p.G74G;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0035;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0035;1000g2015aug_all=0.000998403;avsnp147=rs144764983;Kaviar_AF=0.0015977;Kaviar_AC=247;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0004;ExAC_AMR=0.0007;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=0.0023;ExAC_OTH=0;ExAC_SAS=6.057e-05;CLNALLELEID=40496;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8692;dpsi_zscore=-1.391;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0024;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-785.793,0,-673.566:775:361:391:11652:10580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69905300 . G A 5853.99 . AB=0.461916;ABP=8.13754;AC=29;AF=0.5;AN=52;AO=188;CIGAR=1X;DP=14273;DPB=407;DPRA=0;EPP=5.27418;EPPR=10.5845;GTI=0;LEN=1;MEANALT=3;MQM=38.4574;MQMR=39.3589;NS=1;NUMALT=1;ODDS=871.911;PAIRED=0.968085;PAIREDR=0.976077;PAO=0;PQA=0;PQR=0;PRO=0;QA=6109;QR=6789;RO=209;RPL=88;RPP=4.67356;RPPR=11.7481;RPR=100;RUN=1;SAF=65;SAP=41.8658;SAR=123;SF=0,1;SRF=65;SRP=67.8532;SRR=144;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.2676;esp6500siv2_ea=0.0807;esp6500siv2_all=0.2676;esp6500siv2_ea=0.0807;1000g2015aug_all=0.295927;avsnp147=rs2817760;Kaviar_AF=0.150645;Kaviar_AC=23290;Kaviar_AN=154602;ExAC_ALL=0.1562;ExAC_AFR=0.6455;ExAC_AMR=0.1986;ExAC_EAS=0.1788;ExAC_FIN=0.1095;ExAC_NFE=0.0783;ExAC_OTH=0.1355;ExAC_SAS=0.1418;CLNALLELEID=142117;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6008;dpsi_zscore=1.228;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1499;gnomAD_exome_AFR=0.6593;gnomAD_exome_AMR=0.1909;gnomAD_exome_ASJ=0.0985;gnomAD_exome_EAS=0.1781;gnomAD_exome_FIN=0.1133;gnomAD_exome_NFE=0.0778;gnomAD_exome_OTH=0.1343;gnomAD_exome_SAS=0.1431;gnomAD_genome_ALL=0.2496;gnomAD_genome_AFR=0.6422;gnomAD_genome_AMR=0.1730;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.1723;gnomAD_genome_FIN=0.1189;gnomAD_genome_NFE=0.0747;gnomAD_genome_OTH=0.1296;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-390.331,0,-453.677:407:209:188:6109:6789 . 0/1:-591.41,0,-763.645:652:355:289:9373:11344 0/1:-552.751,0,-760.926:627:343:276:8873:11189 0/1:-467.224,0,-727.908:581:335:240:7661:10710 . . . . . . . . . . . . . 0/1:-794.271,0,-764.861:756:357:393:12211:11637 . 0/1:-718.539,0,-809.707:721:368:347:11132:12040 . . . 0/1:-631.263,0,-739.411:677:354:313:9944:11224 . . . . 0/1:-686.157,0,-788.866:719:365:341:10687:11646 . . 0/1:-727.903,0,-918.834:777:418:346:11372:13455 . . 0/1:-587.521,0,-679.82:628:321:299:9538:10083 . . . 0/1:-563.468,0,-674.329:609:320:279:8984:10118 . . . 0/1:-753.897,0,-506.502:624:266:349:11171:8316 . 0/1:-623.745,0,-595.137:597:287:303:9633:9006 0/1:-694.964,0,-870.971:772:414:345:11091:13161 . . . 0/1:-646.524,0,-658.143:624:308:310:9872:10087 0/1:-355.991,0,-557.302:466:267:186:5940:8355 . 1/1:-1693.77,-167.333,0:662:11:646:20554:357 . . . . . . . . . . . . . 0/1:-423.234,0,-826.718:606:368:232:7175:11860 . . 0/1:-343.315,0,-468.646:433:240:185:5720:7153 0/1:-518.598,0,-745.717:632:352:271:8445:11105 . . . . . . . . . . . . . . . . . . . . . 1/1:-637.135,-68.9359,0:232:0:229:7418:0:0,229 . 1/1:-752.625,-69.3952,0:282:6:274:8903:168:6,274 . . . . 0/1:-298.737,0,-359.247:314:170:144:4616:5270:170,144 0/1:-324.016,0,-278.604:276:128:144:4698:4160:128,144 . . . . . 0/1:-231.146,0,-417.93:303:186:115:3829:5887:186,115 . . . 0/1:-288.894,0,-359.277:296:158:136:4433:5162:158,136 . chr10 69908113 . C T 7263.64 . AB=0.463209;ABP=12.757;AC=6;AF=0.5;AN=12;AO=384;CIGAR=1X;DP=5124;DPB=829;DPRA=0;EPP=113.846;EPPR=40.1867;GTI=0;LEN=1;MEANALT=3;MQM=38.8151;MQMR=39.8171;NS=1;NUMALT=1;ODDS=1516.73;PAIRED=0.966146;PAIREDR=0.979167;PAO=0;PQA=0;PQR=0;PRO=0;QA=10896;QR=12986;RO=432;RPL=198;RPP=3.8246;RPPR=19.9196;RPR=186;RUN=1;SAF=194;SAP=3.10078;SAR=190;SF=0;SRF=220;SRP=3.332;SRR=212;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon5:c.C1134T:p.I378I,MYPN:NM_001256267:exon6:c.C1134T:p.I378I,MYPN:NM_001256268:exon9:c.C252T:p.I84I;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0063;esp6500siv2_ea=0.0087;esp6500siv2_all=0.0063;esp6500siv2_ea=0.0087;1000g2015aug_all=0.00339457;avsnp147=rs145701607;Kaviar_AF=0.0059314;Kaviar_AC=917;Kaviar_AN=154602;ExAC_ALL=0.0060;ExAC_AFR=0.0015;ExAC_AMR=0.0046;ExAC_EAS=0.0001;ExAC_FIN=0.0014;ExAC_NFE=0.0073;ExAC_OTH=0.0121;ExAC_SAS=0.0088;CLNALLELEID=142118;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7511;dpsi_zscore=-1.309;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0061;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0085;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0078;gnomAD_exome_OTH=0.0075;gnomAD_exome_SAS=0.0098;gnomAD_genome_ALL=0.0041;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0068;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-678.449,0,-867.232:829:432:384:10896:12986 . . . 0/1:-1137.56,0,-1261.86:1274:645:603:17665:19143 . . . 0/1:-581.914,0,-556.728:620:303:304:8988:8845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-976.265,0,-1050.4:1071:547:503:14968:15815 . . . . . . . 0/1:-471.514,0,-619.613:583:317:252:7551:9183 . . . . . . . . . . . 0/1:-619.648,0,-729.409:747:383:353:9954:11067 . . . . . . . . . . . . . . . . . . . . . . . . chr10 69908157 . T C 8782.99 . AB=0.469589;ABP=11.9914;AC=7;AF=0.5;AN=14;AO=525;CIGAR=1X;DP=7561;DPB=1118;DPRA=0;EPP=99.8332;EPPR=89.8058;GTI=0;LEN=1;MEANALT=3;MQM=38.1733;MQMR=39.4033;NS=1;NUMALT=1;ODDS=1984.9;PAIRED=0.948571;PAIREDR=0.974453;PAO=0;PQA=0;PQR=0;PRO=0;QA=14235;QR=15534;RO=548;RPL=278;RPP=6.98513;RPPR=19.2409;RPR=247;RUN=1;SAF=240;SAP=11.386;SAR=285;SF=0,1;SRF=284;SRP=4.59532;SRR=264;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon5:c.T1178C:p.V393A,MYPN:NM_001256267:exon6:c.T1178C:p.V393A,MYPN:NM_001256268:exon9:c.T296C:p.V99A;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1223;esp6500siv2_ea=0.0147;esp6500siv2_all=0.1223;esp6500siv2_ea=0.0147;1000g2015aug_all=0.120607;avsnp147=rs11596653;Kaviar_AF=0.043861;Kaviar_AC=6781;Kaviar_AN=154602;ExAC_ALL=0.0452;ExAC_AFR=0.3316;ExAC_AMR=0.0271;ExAC_EAS=0;ExAC_FIN=0.0101;ExAC_NFE=0.0155;ExAC_OTH=0.0430;ExAC_SAS=0.0355;CLNALLELEID=40453;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.687;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.140;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=0.58;FATHMM_pred=T;PROVEAN_score=0.33;PROVEAN_pred=N;VEST3_score=0.043;CADD_raw=0.535;CADD_phred=7.694;DANN_score=0.926;fathmm-MKL_coding_score=0.046;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.932;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=2.55;phyloP7way_vertebrate=-0.422;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.492;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=5.811;GDI_full_10282015=.;dpsi_max_tissue=3.4990;dpsi_zscore=2.337;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0383;gnomAD_exome_AFR=0.3355;gnomAD_exome_AMR=0.0258;gnomAD_exome_ASJ=0.0096;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0126;gnomAD_exome_NFE=0.0160;gnomAD_exome_OTH=0.0337;gnomAD_exome_SAS=0.0354;gnomAD_genome_ALL=0.1036;gnomAD_genome_AFR=0.3238;gnomAD_genome_AMR=0.0274;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0169;gnomAD_genome_NFE=0.0178;gnomAD_genome_OTH=0.0346;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-881.165,0,-999.452:1118:548:525:14235:15534 . . . . . . . . . . . . . 0/1:-947.507,0,-874.271:1129:505:562:15223:14203 . 0/1:-734.412,0,-839.678:953:476:438:11973:13328 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-903.09,0,-940.554:1100:532:513:14423:14800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1035.8,0,-1032.12:1056:513:515:15805:15441:513,515 . . . . . 0/1:-1059.56,0,-1144.4:1120:560:537:16179:17228:560,537 . . . 0/1:-1071.13,0,-1149.28:1085:551:519:16068:16951:551,519 . chr10 69908241 . G A 10358.17 . AB=0.485185;ABP=4.03974;AC=20;AF=0.5;AN=34;AO=262;CIGAR=1X;DP=14801;DPB=540;DPRA=0;EPP=16.2712;EPPR=25.5183;GTI=0;LEN=1;MEANALT=3;MQM=36.8435;MQMR=37.7749;NS=1;NUMALT=1;ODDS=1061.8;PAIRED=0.923664;PAIREDR=0.911439;PAO=0;PQA=0;PQR=0;PRO=0;QA=7781;QR=8589;RO=271;RPL=171;RPP=56.0539;RPPR=98.2105;RPR=91;RUN=1;SAF=108;SAP=20.5478;SAR=154;SF=0,1;SRF=116;SRP=15.1978;SRR=155;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0843;esp6500siv2_ea=0.0643;esp6500siv2_all=0.0843;esp6500siv2_ea=0.0643;1000g2015aug_all=0.121605;avsnp147=rs2200897;Kaviar_AF=0.0893714;Kaviar_AC=13817;Kaviar_AN=154602;ExAC_ALL=0.0928;ExAC_AFR=0.1279;ExAC_AMR=0.1624;ExAC_EAS=0.1783;ExAC_FIN=0.0994;ExAC_NFE=0.0618;ExAC_OTH=0.0839;ExAC_SAS=0.1010;CLNALLELEID=142119;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6687;dpsi_zscore=1.287;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0968;gnomAD_exome_AFR=0.1308;gnomAD_exome_AMR=0.1559;gnomAD_exome_ASJ=0.0878;gnomAD_exome_EAS=0.1770;gnomAD_exome_FIN=0.1009;gnomAD_exome_NFE=0.0608;gnomAD_exome_OTH=0.0905;gnomAD_exome_SAS=0.1021;gnomAD_genome_ALL=0.0903;gnomAD_genome_AFR=0.1247;gnomAD_genome_AMR=0.1376;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.1723;gnomAD_genome_FIN=0.1025;gnomAD_genome_NFE=0.0557;gnomAD_genome_OTH=0.0837;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-477.003,0,-542.982:540:271:262:7781:8589 . 0/1:-921.178,0,-1007.6:981:492:475:14404:15636 0/1:-825.469,0,-727.748:790:369:407:12596:11560 0/1:-701.123,0,-1099.63:934:534:383:11796:16618 . . . . . . . . . . . . . 0/1:-970.865,0,-980.03:1005:495:494:15304:15603 . . . . . 0/1:-775.429,0,-1024.83:910:488:411:12781:15460 . . . . . . . 0/1:-763.782,0,-978.514:881:458:410:12588:14754 . . 0/1:-696.873,0,-752.183:750:380:362:11023:11961 . . . 0/1:-730.457,0,-883.879:800:419:370:11546:13318 . . . . . . 0/1:-799.792,0,-1200.08:1019:567:437:13321:17990 . . . 0/1:-812.32,0,-1012.3:920:488:419:12909:15342 . . 1/1:-2205.48,-229.741,0:905:16:878:26920:454 . . . . . . . . . . . . . 0/1:-732.367,0,-785.503:777:386:380:11524:12166 . . 0/1:-432.811,0,-505.411:533:276:246:7539:8228 . . . . . . . . . . . . . . . . . . . . . . 1/1:-2436.11,-237.64,0:909:12:889:28737:380:12,889 . 1/1:-2905.56,-292.48,0:1097:14:1077:34308:406:14,1077 . . . . 0/1:-1018.02,0,-1190.48:1050:554:489:15548:17810:554,489 . . . . . . . . . . . . chr10 69909802 . G A 8756.47 . AB=0.436447;ABP=25.9188;AC=30;AF=0.5;AN=56;AO=285;CIGAR=1X;DP=24645;DPB=653;DPRA=0;EPP=4.29794;EPPR=3.22866;GTI=0;LEN=1;MEANALT=3;MQM=39.5193;MQMR=39.8101;NS=1;NUMALT=1;ODDS=1170.25;PAIRED=0.982456;PAIREDR=0.969274;PAO=0;PQA=0;PQR=0;PRO=0;QA=8340;QR=10809;RO=358;RPL=110;RPP=35.2014;RPPR=81.8384;RPR=175;RUN=1;SAF=175;SAP=35.2014;SAR=110;SF=0,1;SRF=202;SRP=15.845;SRR=156;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon6:c.G1251A:p.Q417Q,MYPN:NM_001256267:exon7:c.G1251A:p.Q417Q,MYPN:NM_001256268:exon10:c.G369A:p.Q123Q;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1086;esp6500siv2_ea=0.0826;esp6500siv2_all=0.1086;esp6500siv2_ea=0.0826;1000g2015aug_all=0.0842652;avsnp147=rs10997948;Kaviar_AF=0.0840093;Kaviar_AC=12988;Kaviar_AN=154602;ExAC_ALL=0.0845;ExAC_AFR=0.1533;ExAC_AMR=0.0483;ExAC_EAS=0.0070;ExAC_FIN=0.0501;ExAC_NFE=0.0880;ExAC_OTH=0.1002;ExAC_SAS=0.1054;CLNALLELEID=40454;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.8419;dpsi_zscore=2.563;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0808;gnomAD_exome_AFR=0.1565;gnomAD_exome_AMR=0.0470;gnomAD_exome_ASJ=0.1287;gnomAD_exome_EAS=0.0075;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0854;gnomAD_exome_OTH=0.0851;gnomAD_exome_SAS=0.1051;gnomAD_genome_ALL=0.0939;gnomAD_genome_AFR=0.1547;gnomAD_genome_AMR=0.0537;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0611;gnomAD_genome_NFE=0.0795;gnomAD_genome_OTH=0.0631;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-524.115,0,-735.056:653:358:285:8340:10809 . . . . 0/1:-605.007,0,-914.761:761:423:324:9686:13284 . . 0/1:-825.808,0,-1043.94:959:494:443:12832:15315 . 0/1:-798.378,0,-763.097:831:387:427:12325:11786 . 1/1:-3068.58,-324.914,0:1264:20:1227:36414:573 . . . 0/1:-698.435,0,-812.916:777:400:366:10916:12234 0/1:-702.574,0,-706.728:703:347:349:10592:10540 . . . . . . . . . . . 0/1:-940.55,0,-1224.57:1107:585:494:14741:17991 . 0/1:-809.987,0,-1130.82:971:525:433:12597:16406 . . . . . . 0/1:-769.018,0,-768.275:787:381:391:11704:11791 . . . . 0/1:-816.463,0,-951.526:917:468:435:12809:14303 . 0/1:-755.455,0,-1023.93:903:488:403:12104:15118 . . . . . . . . . 0/1:-629.3,0,-719.628:710:362:337:9802:11007 . . . . 1/1:-1609.64,-169.49,0:684:15:661:19481:398 . . 0/1:-484.38,0,-669.834:614:336:270:7946:10117 . . . . 0/1:-1054.55,0,-1209.96:1143:578:537:16156:17750 0/1:-1209.53,0,-1238.39:1230:599:609:18135:18679 . 0/1:-949.979,0,-959.794:966:464:477:14296:14546 . . . 0/1:-601.945,0,-676.51:632:314:300:9125:9987 0/1:-617.449,0,-860.565:741:405:322:9722:12573 . . . . . . . . 0/1:-466.986,0,-681.985:576:317:243:7412:9944 . 0/1:-1209.85,0,-1481.02:1363:711:622:18653:21890 0/1:-720.609,0,-940.073:852:447:387:11348:13811 . . . . . . . . . . . . 0/1:-873.378,0,-994.484:873:448:415:13058:14509:448,415 0/1:-884.344,0,-1066.75:909:478:422:13261:15459:478,422 0/1:-945.303,0,-1211.75:1011:546:456:14355:17348:546,456 . . . 0/1:-782.424,0,-1054.1:886:479:400:12275:15299:479,400 . . . 0/1:-853.218,0,-916.143:822:419:399:12613:13418:419,399 . chr10 69909844 . C A 12648.86 . AB=0.516129;ABP=7.1431;AC=2;AF=0.5;AN=4;AO=944;CIGAR=1X;DP=2766;DPB=1829;DPRA=0;EPP=98.7391;EPPR=177.053;GTI=0;LEN=1;MEANALT=3;MQM=39.5265;MQMR=40.4067;NS=1;NUMALT=1;ODDS=3511.41;PAIRED=0.966102;PAIREDR=0.964079;PAO=0;PQA=0;PQR=0;PRO=0;QA=26950;QR=24292;RO=863;RPL=356;RPP=126.821;RPPR=110.827;RPR=588;RUN=1;SAF=412;SAP=36.1345;SAR=532;SF=0;SRF=386;SRP=23.8469;SRR=477;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon6:c.C1293A:p.I431I,MYPN:NM_001256267:exon7:c.C1293A:p.I431I,MYPN:NM_001256268:exon10:c.C411A:p.I137I;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;1000g2015aug_all=0.00199681;avsnp147=rs147184158;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=9.612e-05;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0044;ExAC_SAS=0.0005;CLNALLELEID=195434;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0873;dpsi_zscore=-1.521;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0061;gnomAD_exome_EAS=5.803e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1764.68,0,-1564.82:1829:863:944:26950:24292 . . . . . . . . . 0/1:-818.388,0,-797.246:937:456:460:12713:12684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69909899 . G A 11459.97 . AB=0.44621;ABP=23.5676;AC=31;AF=0.5;AN=58;AO=365;CIGAR=1X;DP=31746;DPB=818;DPRA=0;EPP=197.913;EPPR=82.4442;GTI=0;LEN=1;MEANALT=3;MQM=39.8164;MQMR=40.1014;NS=1;NUMALT=1;ODDS=1602.91;PAIRED=0.991781;PAIREDR=0.981567;PAO=0;PQA=0;PQR=0;PRO=0;QA=11364;QR=13186;RO=434;RPL=165;RPP=10.2981;RPPR=5.01166;RPR=200;RUN=1;SAF=117;SAP=105.105;SAR=248;SF=0,1;SRF=135;SRP=137.582;SRR=299;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1761;esp6500siv2_ea=0.0826;esp6500siv2_all=0.1761;esp6500siv2_ea=0.0826;1000g2015aug_all=0.14996;avsnp147=rs7096613;Kaviar_AF=0.100943;Kaviar_AC=15606;Kaviar_AN=154602;ExAC_ALL=0.1043;ExAC_AFR=0.3556;ExAC_AMR=0.0608;ExAC_EAS=0.0071;ExAC_FIN=0.0506;ExAC_NFE=0.0893;ExAC_OTH=0.1087;ExAC_SAS=0.1075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4213;dpsi_zscore=1.046;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0957;gnomAD_exome_AFR=0.3614;gnomAD_exome_AMR=0.0576;gnomAD_exome_ASJ=0.1291;gnomAD_exome_EAS=0.0075;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0860;gnomAD_exome_OTH=0.0972;gnomAD_exome_SAS=0.1060;gnomAD_genome_ALL=0.1494;gnomAD_genome_AFR=0.3480;gnomAD_genome_AMR=0.0680;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0614;gnomAD_genome_NFE=0.0803;gnomAD_genome_OTH=0.0716;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-736.576,0,-893.126:818:434:365:11364:13186 . . . . 0/1:-824.15,0,-1123.78:1003:548:430:13124:16414 . . 0/1:-1198.23,0,-1284.59:1263:634:595:18186:19159 . 0/1:-1098.09,0,-865.654:1030:452:544:16488:13548 . 1/1:-4041.89,-425.007,0:1617:21:1572:47735:618 . . . 0/1:-837.997,0,-979.579:951:490:434:13239:14607 0/1:-940.195,0,-816.219:881:410:451:14017:12399 . . . . . . . . . . . 0/1:-1286.37,0,-1397.58:1381:704:638:19702:20997 . 0/1:-1240.84,0,-1377.09:1294:654:608:18795:20295 . . . . . . 0/1:-1086.6,0,-1035.81:1093:533:536:16640:15830 . . . . 0/1:-1191.39,0,-1261.72:1253:625:597:18264:19164 . 0/1:-1049.25,0,-1249.54:1200:619:549:16528:18674 . . . . . 0/1:-933.696,0,-754.985:882:395:464:14070:12042 . . . 0/1:-837.127,0,-844.372:904:437:442:13027:13057 . . . . 1/1:-2233.28,-239.722,0:909:11:879:26590:362 . . 0/1:-658.261,0,-792.064:755:399:331:10314:12010 . . . . 0/1:-1549.88,0,-1300.97:1436:653:755:22996:19948 0/1:-1609.74,0,-1343.01:1489:691:765:23749:20454 . 0/1:-1220.11,0,-1108.13:1182:565:589:18278:16931 . . . 0/1:-804.984,0,-814.895:834:413:397:12090:12311 0/1:-1018.79,0,-892.862:980:458:501:15269:13811 . . . . . . . . 0/1:-637.254,0,-871.999:761:416:330:10074:12746 . 0/1:-1622.06,0,-1855.02:1760:907:819:24895:27638 0/1:-1034.8,0,-1117.41:1095:562:510:15946:16695 . . . . . . . . . . . . 0/1:-980.049,0,-1036.13:970:479:472:14597:15276:479,472 0/1:-925.394,0,-1088.44:973:512:438:13960:15893:512,438 0/1:-1106.71,0,-1232.81:1126:579:527:16664:18096:579,527 . . . 0/1:-893.907,0,-1207.13:1002:547:436:13803:17316:547,436 . . . 0/1:-927.904,0,-987.411:904:463:433:13879:14429:463,433 . chr10 69921472 . T A 11019.90 . AB=0.527675;ABP=10.2218;AC=1;AF=0.5;AN=2;AO=572;CIGAR=1X;DP=1084;DPB=1084;DPRA=0;EPP=331.146;EPPR=329.067;GTI=0;LEN=1;MEANALT=2;MQM=38.986;MQMR=39.4247;NS=1;NUMALT=1;ODDS=2204.87;PAIRED=0.966783;PAIREDR=0.921722;PAO=0;PQA=0;PQR=0;PRO=0;QA=17445;QR=15702;RO=511;RPL=313;RPP=14.0803;RPPR=10.1536;RPR=259;RUN=1;SAF=328;SAP=29.7969;SAR=244;SF=0;SRF=293;SRP=26.9135;SRR=218;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000399361;avsnp147=rs201156035;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0055;ExAC_SAS=0;CLNALLELEID=229832;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.9947;dpsi_zscore=-1.900;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.486e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=6.606e-05;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-1148.94,0,-1003.74:1084:511:572:17445:15702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69925596 . G C 9414.66 . AB=0.489733;ABP=3.90208;AC=1;AF=0.5;AN=2;AO=477;CIGAR=1X;DP=974;DPB=974;DPRA=0;EPP=25.9587;EPPR=3.05043;GTI=0;LEN=1;MEANALT=3;MQM=39.9224;MQMR=40.5483;NS=1;NUMALT=1;ODDS=2167.8;PAIRED=0.985325;PAIREDR=0.975359;PAO=0;PQA=0;PQR=0;PRO=0;QA=14518;QR=14946;RO=487;RPL=196;RPP=35.9011;RPPR=29.447;RPR=281;RUN=1;SAF=276;SAP=28.6173;SAR=201;SF=0;SRF=292;SRP=44.9639;SRR=195;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0095;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0095;1000g2015aug_all=0.00199681;avsnp147=rs41278498;Kaviar_AF=0.0074773;Kaviar_AC=1156;Kaviar_AN=154602;ExAC_ALL=0.0075;ExAC_AFR=0.0011;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0067;ExAC_NFE=0.0119;ExAC_OTH=0.0056;ExAC_SAS=0.0017;CLNALLELEID=512841;CLNDN=Dilated_cardiomyopathy_1KK;CLNDISDB=MedGen:C3714995,OMIM:615248;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.6856;dpsi_zscore=-2.085;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0058;gnomAD_exome_NFE=0.0116;gnomAD_exome_OTH=0.0063;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0118;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-957.555,0,-1003.31:974:487:477:14518:14946 . . . . . . . . . . . . . . . . . . . . . . . chr10 69926097 . TA CA 9573.54 . AB=0.508333;ABP=3.37221;AC=143;AF=0.5;AN=190;AO=305;CIGAR=1X;DP=65843;DPB=600;DPRA=0;EPP=4.21351;EPPR=7.90983;GTI=0;LEN=1;MEANALT=3;MQM=30.823;MQMR=33.2202;NS=1;NUMALT=1;ODDS=950.379;PAIRED=0.868852;PAIREDR=0.920578;PAO=0;PQA=0;PQR=0;PRO=0;QA=8199;QR=8087;RO=277;RPL=200;RPP=67.2645;RPPR=89.438;RPR=105;RUN=1;SAF=160;SAP=4.61221;SAR=145;SF=0,1;SRF=164;SRP=23.4002;SRR=113;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.T1647C:p.S549S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_001256268:exon14:c.T765C:p.S255S;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.5787;esp6500siv2_ea=0.6960;esp6500siv2_all=0.5787;esp6500siv2_ea=0.6960;1000g2015aug_all=0.482628;avsnp147=rs2673794;Kaviar_AF=0.621331;Kaviar_AC=96059;Kaviar_AN=154602;ExAC_ALL=0.6227;ExAC_AFR=0.3416;ExAC_AMR=0.6872;ExAC_EAS=0.2886;ExAC_FIN=0.7417;ExAC_NFE=0.6868;ExAC_OTH=0.6564;ExAC_SAS=0.6200;CLNALLELEID=40455;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0781;dpsi_zscore=-0.378;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6326;gnomAD_exome_AFR=0.3410;gnomAD_exome_AMR=0.6827;gnomAD_exome_ASJ=0.6361;gnomAD_exome_EAS=0.2873;gnomAD_exome_FIN=0.7398;gnomAD_exome_NFE=0.6904;gnomAD_exome_OTH=0.6410;gnomAD_exome_SAS=0.6264;gnomAD_genome_ALL=0.5867;gnomAD_genome_AFR=0.3464;gnomAD_genome_AMR=0.6480;gnomAD_genome_ASJ=0.6733;gnomAD_genome_EAS=0.2834;gnomAD_genome_FIN=0.7457;gnomAD_genome_NFE=0.7102;gnomAD_genome_OTH=0.6878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-431.138:600:277:305:8199:8087 0/1:.,.,-754.276:871:458:385:10514:13587 1/1:.,.,0:671:4:652:18075:114 0/1:.,.,-346.43:448:213:216:5878:6394 . 1/1:.,.,0:823:10:788:21887:309 0/1:.,.,-398.816:589:260:294:7912:7378 1/1:.,.,0:807:12:768:21319:372 . 0/1:.,.,-755.866:812:423:363:10231:12951 0/1:.,.,-458.892:624:288:308:8146:8392 0/1:.,.,-586.25:689:339:320:8852:10029 1/1:.,.,0:618:10:591:16323:325 . 0/1:.,.,-516.997:597:309:263:7040:9045 1/1:.,.,0:1045:5:1004:27445:149 1/1:.,.,0:442:3:432:11737:82 1/1:.,.,0:1395:6:1337:36472:199 1/1:.,.,0:731:0:710:20176:0 . 0/1:.,.,-370.016:535:232:287:7624:6852 1/1:.,.,0:859:1:834:23309:14 1/1:.,.,0:378:2:359:9905:28 . 1/1:.,.,0:818:3:784:21822:99 . 1/1:.,.,0:752:8:720:19334:284 1/1:.,.,0:828:4:802:22092:126 1/1:.,.,0:447:3:425:11417:68 0/1:.,.,-423.829:466:249:201:5442:7361 0/1:.,.,-612.477:656:338:298:8306:10437 . . . 0/1:.,.,-607.881:744:352:369:10064:10566 1/1:.,.,0:760:3:733:19409:64 0/1:.,.,-452.894:654:280:340:9134:8208 1/1:.,.,0:714:2:700:19194:28 0/1:.,.,-612.707:642:364:253:6890:10610 1/1:.,.,0:477:0:463:12637:0 1/1:.,.,0:874:4:846:23846:104 0/1:.,.,-580.502:704:342:339:9735:10078 0/1:.,.,-745.336:739:422:299:7919:12495 1/1:.,.,0:675:8:647:18086:232 0/1:.,.,-767.188:910:446:437:11771:12870 0/1:.,.,-685.972:801:413:357:9676:12158 1/1:.,.,0:694:1:674:18517:14 1/1:.,.,0:445:1:428:11803:14 1/1:.,.,0:572:1:561:15819:32 1/1:.,.,0:902:9:870:23727:262 0/1:.,.,-663.482:787:407:357:9773:11859 0/1:.,.,-397.973:553:274:258:6902:7862 0/1:.,.,-878.93:982:526:424:11987:15564 0/1:.,.,-721.996:841:437:365:9573:12842 0/1:.,.,-318.81:448:217:214:5791:6075 1/1:.,.,0:600:3:581:16281:84 1/1:.,.,0:774:3:737:20336:82 1/1:.,.,0:377:4:359:9459:63 . . 0/1:.,.,-328.35:411:212:178:4463:6189 0/1:.,.,-829.466:1024:496:504:13877:14409 . 0/1:.,.,-351.206:429:223:182:4815:6537 0/1:.,.,-838.486:971:493:449:12148:14628 1/1:.,.,0:736:5:713:20113:112 0/1:.,.,-228.933:334:150:171:4482:4337 1/1:.,.,0:712:3:682:18599:71 0/1:.,.,-548.182:619:327:272:7447:9802 0/1:.,.,-556.008:719:344:339:9309:10010 0/1:.,.,-609.822:699:367:305:8390:10697 1/1:.,.,0:926:0:901:24909:0 . 0/1:.,.,-305.077:377:198:167:4072:5868 1/1:.,.,0:661:4:646:18233:56 1/1:.,.,0:745:7:715:19361:167 . . . 1/1:.,.,0:492:2:479:12663:50 0/1:.,.,-578.92:802:368:407:11225:10658 0/1:.,.,-547.697:775:352:396:11084:10325 . 1/1:.,.,0:694:14:657:18167:394 1/1:.,.,0:652:26:605:16320:649 0/1:.,.,-471.452:623:299:299:8301:8657 0/1:.,.,-449.634:533:255:256:7099:7835 1/1:.,.,0:733:6:698:19215:182 0/1:.,.,-300.432:392:188:192:5478:5424 . 0/1:.,.,-802.43:993:488:469:12964:14183 1/1:.,.,0:677:1:654:17847:14 0/1:.,.,-666.392:847:399:420:11441:11943 0/1:.,.,-638.19:737:371:344:9579:10878 0/1:.,.,-707.637:790:411:358:9760:12231 . 1/1:.,.,0:775:4:754:22289:140:4,754 . 1/1:.,.,0:851:5:831:25262:163:5,831 0/1:.,.,-420.303:426:212:202:5957:6318:212,202 0/1:.,.,-553.171:635:298:327:9823:8874:298,327 1/1:.,.,0:777:4:753:22643:129:4,753 0/1:.,.,-692.211:748:363:368:11148:11011:363,368 1/1:-1598.85,-177.816,0:708:7:634:18641:213:7,634 1/1:.,.,0:655:2:634:18798:46:2,634 . 0/1:.,.,-888.663:805:430:365:10754:13351:430,365 1/1:.,.,0:603:3:592:18073:104:3,592 1/1:-1371.74,-145.562,0:608:8:543:16055:276:8,543 1/1:.,.,0:649:4:629:18572:74:4,629 1/1:.,.,0:770:5:747:21971:167:5,747 1/1:.,.,0:753:3:738:22327:93:3,738 0/1:.,.,-714.155:812:377:420:12535:11494:377,420 1/1:.,.,0:615:6:595:17849:181:6,595 0/1:.,.,-697.691:672:357:297:9071:10752:357,297 1/1:.,.,0:708:5:690:20462:158:5,690 chr10 69926319 . C A 5251.61 . AB=0.492707;ABP=3.29537;AC=46;AF=0.5;AN=82;AO=304;CIGAR=1X;DP=23796;DPB=617;DPRA=0;EPP=23.8393;EPPR=12.2071;GTI=0;LEN=1;MEANALT=3;MQM=30.648;MQMR=31.951;NS=1;NUMALT=1;ODDS=918.187;PAIRED=0.947368;PAIREDR=0.944444;PAO=0;PQA=0;PQR=0;PRO=0;QA=8182;QR=8712;RO=306;RPL=187;RPP=38.011;RPPR=16.7488;RPR=117;RUN=1;SAF=158;SAP=4.03889;SAR=146;SF=0,1;SRF=130;SRP=18.0261;SRR=176;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1869A:p.T623T,MYPN:NM_001256267:exon11:c.C1869A:p.T623T,MYPN:NM_001256268:exon14:c.C987A:p.T329T;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1261;esp6500siv2_ea=0.1735;esp6500siv2_all=0.1261;esp6500siv2_ea=0.1735;1000g2015aug_all=0.116613;avsnp147=rs61854624;Kaviar_AF=0.155037;Kaviar_AC=23969;Kaviar_AN=154602;ExAC_ALL=0.1565;ExAC_AFR=0.0308;ExAC_AMR=0.2479;ExAC_EAS=0.0863;ExAC_FIN=0.1783;ExAC_NFE=0.1679;ExAC_OTH=0.1645;ExAC_SAS=0.1530;CLNALLELEID=40463;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0376;dpsi_zscore=0.238;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1658;gnomAD_exome_AFR=0.0280;gnomAD_exome_AMR=0.2391;gnomAD_exome_ASJ=0.2918;gnomAD_exome_EAS=0.0915;gnomAD_exome_FIN=0.1850;gnomAD_exome_NFE=0.1614;gnomAD_exome_OTH=0.1718;gnomAD_exome_SAS=0.1571;gnomAD_genome_ALL=0.1264;gnomAD_genome_AFR=0.0286;gnomAD_genome_AMR=0.2124;gnomAD_genome_ASJ=0.3146;gnomAD_genome_EAS=0.0936;gnomAD_genome_FIN=0.1881;gnomAD_genome_NFE=0.1621;gnomAD_genome_OTH=0.1537;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-411.985,0,-461.563:617:306:304:8182:8712 0/1:-261.57,0,-284.527:382:186:191:5361:5306 . 0/1:-499.834,0,-604.42:754:397:348:9986:11345 0/1:-396.635,0,-325.524:522:241:270:7687:6829 0/1:-430.957,0,-433.612:627:303:314:8909:8548 . . 0/1:-368.96,0,-392.663:532:265:255:7313:7777 0/1:-404.063,0,-496.986:617:331:273:7930:9411 0/1:-344.929,0,-404.333:544:279:259:7264:7949 . . 1/1:-1635.09,-208.247,0:876:37:822:23324:719 . . 0/1:-418.422,0,-356.206:549:256:286:8087:7373 . 0/1:-316.442,0,-415.75:518:279:224:6483:8018 0/1:-574.684,0,-472.643:756:349:394:10903:9824 . . . . . 1/1:-1304.78,-168.772,0:668:21:641:18262:442 . . 0/1:-354.292,0,-461.873:556:283:262:7495:8449 . . . . 0/1:-462.986,0,-409.471:625:296:318:8995:8188 . . 0/1:-410.084,0,-414.293:556:275:277:7674:7660 . 0/1:-499.549,0,-513.216:702:342:352:9834:9881 . 0/1:-480.549,0,-434.798:624:285:326:9021:8292 . . 0/1:-578.593,0,-414.106:678:307:361:10629:8804 . 0/1:-283.991,0,-265.494:370:182:179:5288:5059 0/1:-321.974,0,-439.99:511:274:229:6426:7983 0/1:-481.286,0,-540.044:695:345:334:9484:9958 . . . 0/1:-481.394,0,-436.17:673:316:346:9505:9101 . . 1/1:-1262.15,-155.501,0:680:29:641:18405:628 . . . . . . 0/1:-235.345,0,-244.13:378:179:191:5057:4978 . 0/1:-458.13,0,-546.665:671:344:317:9089:10083 0/1:-225.842,0,-130.075:259:98:156:4334:2858 . . . 0/1:-370.679,0,-458.207:565:292:264:7356:8539 0/1:-676.146,0,-571.559:820:384:425:12634:11191 . 0/1:-172.918,0,-262.548:350:183:157:4079:5120 0/1:-395.987,0,-376.877:557:261:284:7834:7355 . . . . 0/1:-266.444,0,-215.848:357:162:191:5454:4542 . . . . . . . 0/1:-407.972,0,-496.94:652:337:306:8124:9386 . . . 0/1:-392.219,0,-353.907:548:248:287:7973:7226 . . . . 1/1:-1416.25,-166.934,0:602:7:591:18564:149:7,591 . 1/1:-1577.64,-174.822,0:661:14:643:20073:324:14,643 . 0/1:-412.519,0,-405.36:473:240:228:6857:6837:240,228 . . 0/1:-434.394,0,-646.709:617:345:267:7901:10385:345,267 0/1:-565.514,0,-471.94:567:264:301:9178:8054:264,301 . . . . 0/1:-486.64,0,-488.539:543:268:273:8425:8035:268,273 . 0/1:-503.988,0,-474.942:544:268:271:8422:7979:268,271 . . . . chr10 69926324 . CC CT 12500.10 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=540;CIGAR=1M1X;DP=556;DPB=572;DPRA=0;EPP=60.9162;EPPR=7.35324;GTI=0;LEN=1;MEANALT=5;MQM=34.2037;MQMR=42;NS=1;NUMALT=1;ODDS=778.379;PAIRED=0.948148;PAIREDR=1;PAO=16;PQA=457.5;PQR=457.5;PRO=16;QA=16510;QR=70;RO=2;RPL=335;RPP=70.9693;RPPR=7.35324;RPR=205;RUN=1;SAF=253;SAP=7.65886;SAR=287;SF=1;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MYPN:NM_032578:exon10:c.1875delC:p.P625fs,MYPN:NM_001256267:exon11:c.1875delC:p.P625fs,MYPN:NM_001256268:exon14:c.993delC:p.P331fs;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1265.74,-176.247,0:556:2:540:16510:70:2,540 . . . . . . . . . . . . . . . . . . . chr10 69926325 . C T 4748.21 . AB=0.488616;ABP=3.65299;AC=49;AF=0.5;AN=86;AO=279;CIGAR=1X;DP=22594;DPB=571;DPRA=0;EPP=42.2447;EPPR=37.8942;GTI=0;LEN=1;MEANALT=3;MQM=30.233;MQMR=32.1445;NS=1;NUMALT=1;ODDS=845.54;PAIRED=0.939068;PAIREDR=0.939163;PAO=0;PQA=0;PQR=0;PRO=0;QA=7567;QR=7600;RO=263;RPL=176;RPP=44.4862;RPPR=21.249;RPR=103;RUN=1;SAF=144;SAP=3.64073;SAR=135;SF=0,1;SRF=120;SRP=7.37801;SRR=143;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1875T:p.P625P,MYPN:NM_001256267:exon11:c.C1875T:p.P625P,MYPN:NM_001256268:exon14:c.C993T:p.P331P;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1723;esp6500siv2_ea=0.1866;esp6500siv2_all=0.1723;esp6500siv2_ea=0.1866;1000g2015aug_all=0.157748;avsnp147=rs2673793;Kaviar_AF=0.176531;Kaviar_AC=27292;Kaviar_AN=154602;ExAC_ALL=0.1809;ExAC_AFR=0.1501;ExAC_AMR=0.2590;ExAC_EAS=0.0864;ExAC_FIN=0.1873;ExAC_NFE=0.1823;ExAC_OTH=0.1965;ExAC_SAS=0.1859;CLNALLELEID=40456;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0469;dpsi_zscore=-0.251;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1883;gnomAD_exome_AFR=0.1544;gnomAD_exome_AMR=0.2507;gnomAD_exome_ASJ=0.3101;gnomAD_exome_EAS=0.0917;gnomAD_exome_FIN=0.1964;gnomAD_exome_NFE=0.1760;gnomAD_exome_OTH=0.1904;gnomAD_exome_SAS=0.1900;gnomAD_genome_ALL=0.1727;gnomAD_genome_AFR=0.1541;gnomAD_genome_AMR=0.2243;gnomAD_genome_ASJ=0.3233;gnomAD_genome_EAS=0.0932;gnomAD_genome_FIN=0.2033;gnomAD_genome_NFE=0.1790;gnomAD_genome_OTH=0.1732;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-382.941,0,-405.698:571:263:279:7567:7600 0/1:-242.4,0,-239.813:347:159:168:4919:4537 . 0/1:-446.62,0,-490.406:681:328:326:8916:9640 0/1:-349.07,0,-244.616:460:196:247:6864:5515 0/1:-399.022,0,-367.334:568:262:292:8126:7512 . . 0/1:-332.348,0,-332.608:479:223:231:6578:6719 0/1:-383.177,0,-421.964:573:288:260:7376:8259 0/1:-306.368,0,-346.625:489:236:234:6409:6904 . . 1/1:-1554.64,-213.917,0:840:16:790:21769:387 . . 0/1:-380.75,0,-277.547:496:210:264:7251:6182 . 0/1:-293.599,0,-360.849:481:246:219:6018:7187 0/1:-530.225,0,-406.363:673:285:361:9923:8538 . . . . . 1/1:-1188.35,-162.595,0:639:13:602:16827:341 . . 0/1:-304.291,0,-393.143:492:240:233:6415:7309 . . . . 0/1:-412.016,0,-349.705:571:251:298:8115:7307 . . 0/1:-350.255,0,-346.053:500:234:247:6605:6670 . 0/1:-439.423,0,-455.981:646:307:320:8894:8873 . 0/1:-436.528,0,-374.182:557:245:291:8237:7307 . . 0/1:-512.285,0,-341.95:604:256:327:9243:7572 0/1:-309.195,0,-307.542:465:220:231:6243:6355 0/1:-235.662,0,-270.71:348:177:164:4461:5227 1/1:-892.539,-124.573,0:475:9:449:12298:241 0/1:-436.927,0,-447.444:627:292:310:8573:8687 . . . 0/1:-452.995,0,-376.33:614:271:314:8638:7873 . . 1/1:-1211.28,-173.642,0:659:8:628:17438:223 . . . . . . 0/1:-218.954,0,-219.083:341:156:176:4631:4449 . 0/1:-457.702,0,-437.932:614:281:305:8745:8335 0/1:-198.705,0,-126.679:241:94:134:3858:2722 . . . 0/1:-314.777,0,-368.071:502:243:233:6269:7093 0/1:-605.305,0,-477.19:737:322:393:11237:9738 . 0/1:-175.638,0,-217.794:315:157:143:3844:4559 0/1:-369.531,0,-325.068:515:224:266:7322:6418 . . . . 0/1:-249.549,0,-182.343:335:143:179:4976:4051 . . . . . . . 0/1:-377.083,0,-447.065:601:294:279:7385:8679 . . . 0/1:-343.627,0,-310.373:500:220:267:6982:6629 . . . . . . 1/1:-1475.53,-170.477,0:621:8:605:18793:247:8,605 . 0/1:-383.544,0,-372.834:425:204:211:6457:6341:204,211 . . 0/1:-388.007,0,-534.32:532:280:234:7154:8666:280,234 1/1:-1128.76,-132.218,0:493:5:473:14440:132:5,473 . . . . 0/1:-436.535,0,-435.28:495:237:249:7637:7289:237,249 0/1:-473.226,0,-392.486:497:228:257:7710:7060:228,257 0/1:-465.574,0,-387.065:493:229:256:7766:6948:229,256 . . 0/1:-376.786,0,-499.569:482:254:213:6599:7725:254,213 . chr10 69926334 . C G 4766.53 . AB=0.473451;ABP=5.77749;AC=92;AF=0.5;AN=144;AO=214;CIGAR=1X;DP=36535;DPB=452;DPRA=0;EPP=17.6627;EPPR=7.15584;GTI=0;LEN=1;MEANALT=3;MQM=30.6028;MQMR=30.329;NS=1;NUMALT=1;ODDS=640.321;PAIRED=0.859813;PAIREDR=0.844156;PAO=0;PQA=0;PQR=0;PRO=0;QA=5815;QR=6843;RO=231;RPL=157;RPP=104.481;RPPR=74.1613;RPR=57;RUN=1;SAF=111;SAP=3.65971;SAR=103;SF=0,1;SRF=108;SRP=5.12537;SRR=123;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1884G:p.F628L,MYPN:NM_001256267:exon11:c.C1884G:p.F628L,MYPN:NM_001256268:exon14:c.C1002G:p.F334L;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.3960;esp6500siv2_ea=0.5095;esp6500siv2_all=0.3960;esp6500siv2_ea=0.5095;1000g2015aug_all=0.316494;avsnp147=rs10823148;Kaviar_AF=0.435596;Kaviar_AC=67344;Kaviar_AN=154602;ExAC_ALL=0.4383;ExAC_AFR=0.1622;ExAC_AMR=0.4237;ExAC_EAS=0.2010;ExAC_FIN=0.5534;ExAC_NFE=0.5038;ExAC_OTH=0.4623;ExAC_SAS=0.4339;CLNALLELEID=40464;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.635;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.121;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.218;CADD_raw=0.756;CADD_phred=9.186;DANN_score=0.646;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.929;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.3;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.595;SiPhy_29way_logOdds=7.614;GDI_full_10282015=.;dpsi_max_tissue=0.0090;dpsi_zscore=0.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4418;gnomAD_exome_AFR=0.1565;gnomAD_exome_AMR=0.4300;gnomAD_exome_ASJ=0.3260;gnomAD_exome_EAS=0.1949;gnomAD_exome_FIN=0.5430;gnomAD_exome_NFE=0.5137;gnomAD_exome_OTH=0.4498;gnomAD_exome_SAS=0.4363;gnomAD_genome_ALL=0.4048;gnomAD_genome_AFR=0.1619;gnomAD_genome_AMR=0.4199;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.1897;gnomAD_genome_FIN=0.5426;gnomAD_genome_NFE=0.5306;gnomAD_genome_OTH=0.5122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-296.774,0,-354.854:452:231:214:5815:6843 0/1:-460.239,0,-414.922:639:297:328:9006:8563 0/1:-344.513,0,-406.547:549:283:251:6831:8089 . . 0/1:-424.009,0,-537.55:689:357:313:8763:10526 . 0/1:-320.271,0,-439.551:576:304:254:6679:9036 . 0/1:-323.933,0,-429.81:556:282:260:6993:8079 . . 0/1:-316.911,0,-340.876:483:238:235:6524:7002 . 0/1:-265.725,0,-324.291:421:213:205:5458:6382 . 1/1:-556.697,-87.322,0:337:8:318:8639:177 1/1:-1838.82,-258.525,0:961:15:929:26158:367 0/1:-254.097,0,-433.568:502:281:214:5948:8399 . . 0/1:-357.274,0,-575.979:678:379:286:7723:11137 1/1:-386.828,-51.6557,0:233:10:218:5766:228 . 1/1:-1019.46,-149.351,0:559:10:539:14410:236 . 1/1:-950.506,-131.077,0:509:10:491:13827:255 . 1/1:-483.283,-75.3801,0:309:9:289:7506:196 0/1:-314.221,0,-249.634:390:178:206:5708:5114 . . . . 0/1:-404.184,0,-415.694:568:268:282:7714:8184 0/1:-293.573,0,-443.269:556:297:237:6326:8702 0/1:-338.217,0,-412.746:535:253:270:7348:7447 1/1:-922.889,-121.567,0:496:13:468:13088:313 . 1/1:-650.547,-96.2575,0:356:7:340:9219:134 0/1:-401.732,0,-468.078:636:326:295:8031:9588 0/1:-282.465,0,-372.856:466:246:214:5833:7147 . 1/1:-999.769,-149.849,0:561:11:534:14149:205 0/1:-483.046,0,-491.882:699:333:347:9619:9649 . 0/1:-267.989,0,-339.676:461:240:211:5723:7121 0/1:-248.062,0,-259.144:357:167:181:4900:4907 . 0/1:-397.333,0,-509.663:636:331:287:8135:9853 0/1:-367.093,0,-463.284:584:303:267:7332:8966 0/1:-205.604,0,-279.695:411:204:196:4889:5891 0/1:-433.991,0,-492.112:646:311:318:8611:9136 . 0/1:-164.73,0,-208.342:316:155:151:3712:4622 1/1:-777.022,-119.941,0:417:2:408:10839:46 . 1/1:-413.448,-59.5797,0:233:6:220:6001:142 . . 0/1:-100.238,0,-153.55:230:118:105:2704:3388 0/1:-432.172,0,-427.476:615:299:304:8652:8573 . . 0/1:-480.577,0,-455.523:664:316:336:9133:9028 0/1:-408.425,0,-466.199:594:294:284:7844:8909 . 1/1:-951.264,-136.225,0:510:7:487:13533:151 0/1:-296.837,0,-291.863:426:200:209:5808:5972 0/1:-282.082,0,-350.534:483:237:229:6085:6806 . 0/1:-444.859,0,-609.015:713:382:312:8936:11482 . . 0/1:-296.845,0,-387.8:503:270:224:6044:7905 1/1:-1054.28,-155.113,0:600:15:566:15115:265 . . . 0/1:-163.68,0,-273.637:335:184:144:3785:5575 0/1:-340.981,0,-436.709:562:284:267:7335:8248 0/1:-311.885,0,-405.416:537:269:255:6901:8048 . 1/1:-911.231,-118.528,0:511:19:473:12950:418 1/1:-714.993,-88.5012,0:425:21:396:10766:578 0/1:-278.891,0,-360.13:467:236:220:5908:6979 0/1:-250.502,0,-314.332:401:205:183:4906:6049 0/1:-395.162,0,-435.679:596:296:291:7817:8538 0/1:-192.362,0,-289.953:359:195:157:4318:5520 . 0/1:-417.794,0,-546.479:686:349:322:8826:10181 0/1:-276.995,0,-366.549:492:263:216:6005:7778 0/1:-408.458,0,-439.086:621:299:307:8236:8835 0/1:-378.987,0,-392.093:543:258:276:7360:7678 0/1:-369.067,0,-532.629:609:330:276:7311:10037 . . . . 0/1:-257.098,0,-314.099:326:161:153:4662:5144:161,153 . 1/1:-1342.14,-161.763,0:580:5:564:17312:136:5,564 0/1:-470.128,0,-424.871:508:242:258:7764:7496:242,258 0/1:-531.857,0,-372.106:514:224:280:8638:6936:224,280 . . 0/1:-515.7,0,-628.725:628:321:293:8928:10030:321,293 1/1:-882.412,-105.152,0:387:4:378:11716:140:4,378 1/1:-977.135,-106.269,0:441:12:422:13079:309:12,422 0/1:-406.054,0,-412.014:476:240:231:7000:7452:240,231 0/1:-367.384,0,-490.793:492:264:221:6731:8017:264,221 0/1:-389.178,0,-460.181:483:252:224:6927:7747:252,224 0/1:-452.168,0,-529.244:553:288:258:7845:8833:288,258 1/1:-944.502,-105.698,0:411:7:397:11913:218:7,397 . 1/1:-1111.73,-123.19,0:477:9:462:14361:258:9,462 chr10 69926385 . C T 7830.95 . AB=0.557252;ABP=29.1177;AC=1;AF=0.5;AN=2;AO=511;CIGAR=1X;DP=917;DPB=917;DPRA=0;EPP=69.4081;EPPR=29.1484;GTI=0;LEN=1;MEANALT=3;MQM=35.3268;MQMR=30.7464;NS=1;NUMALT=1;ODDS=927.409;PAIRED=0.968689;PAIREDR=0.763533;PAO=0;PQA=0;PQR=0;PRO=0;QA=13088;QR=9349;RO=351;RPL=218;RPP=26.9135;RPPR=34.1966;RPR=293;RUN=1;SAF=249;SAP=3.72846;SAR=262;SF=0;SRF=109;SRP=112.444;SRR=242;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1935T:p.P645P,MYPN:NM_001256267:exon11:c.C1935T:p.P645P,MYPN:NM_001256268:exon14:c.C1053T:p.P351P;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000599042;avsnp147=rs71535754;Kaviar_AF=0.0007633;Kaviar_AC=118;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0012;ExAC_OTH=0;ExAC_SAS=6.066e-05;CLNALLELEID=40465;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0290;dpsi_zscore=0.191;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-806.657,0,-433.867:917:351:511:13088:9349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69933890 . C G 8161.10 . AB=0.500557;ABP=3.01272;AC=1;AF=0.5;AN=2;AO=449;CIGAR=1X;DP=897;DPB=897;DPRA=0;EPP=15.5894;EPPR=24.906;GTI=0;LEN=1;MEANALT=3;MQM=38.2249;MQMR=37.8565;NS=1;NUMALT=1;ODDS=1835.65;PAIRED=0.953229;PAIREDR=0.909722;PAO=0;PQA=0;PQR=0;PRO=0;QA=12986;QR=12975;RO=432;RPL=180;RPP=41.3182;RPPR=17.6677;RPR=269;RUN=1;SAF=235;SAP=5.14308;SAR=214;SF=0;SRF=230;SRP=6.95112;SRR=202;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2041G:p.P681A,MYPN:NM_001256267:exon12:c.C2041G:p.P681A,MYPN:NM_001256268:exon15:c.C1159G:p.P387A;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.907;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.392;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=0.17;FATHMM_pred=T;PROVEAN_score=-1.5;PROVEAN_pred=N;VEST3_score=0.184;CADD_raw=-0.209;CADD_phred=1.050;DANN_score=0.234;fathmm-MKL_coding_score=0.118;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.036;MetaSVM_pred=T;MetaLR_score=0.105;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-1.3;phyloP7way_vertebrate=-0.403;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.432;phastCons20way_mammalian=0.683;SiPhy_29way_logOdds=1.382;GDI_full_10282015=.;dpsi_max_tissue=0.3077;dpsi_zscore=0.902;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-829.344,0,-809.155:897:432:449:12986:12975 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69933921 . G A 12899.08 . AB=0.444215;ABP=29.1756;AC=90;AF=0.5;AN=140;AO=430;CIGAR=1X;DP=74080;DPB=968;DPRA=0;EPP=64.1145;EPPR=75.8236;GTI=0;LEN=1;MEANALT=3;MQM=36.4023;MQMR=37.7302;NS=1;NUMALT=1;ODDS=1661.66;PAIRED=0.969767;PAIREDR=0.956349;PAO=0;PQA=0;PQR=0;PRO=0;QA=12459;QR=14894;RO=504;RPL=277;RPP=80.6581;RPPR=31.9805;RPR=153;RUN=1;SAF=227;SAP=5.91906;SAR=203;SF=0,1;SRF=252;SRP=3.0103;SRR=252;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2072A:p.S691N,MYPN:NM_001256267:exon12:c.G2072A:p.S691N,MYPN:NM_001256268:exon15:c.G1190A:p.S397N;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.3924;esp6500siv2_ea=0.48;esp6500siv2_all=0.3924;esp6500siv2_ea=0.48;1000g2015aug_all=0.335863;avsnp147=rs10997975;Kaviar_AF=0.431191;Kaviar_AC=66663;Kaviar_AN=154602;ExAC_ALL=0.4308;ExAC_AFR=0.2092;ExAC_AMR=0.4167;ExAC_EAS=0.2586;ExAC_FIN=0.5402;ExAC_NFE=0.4801;ExAC_OTH=0.4559;ExAC_SAS=0.4256;CLNALLELEID=40457;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.063;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=0.46;PROVEAN_pred=N;VEST3_score=0.013;CADD_raw=0.657;CADD_phred=8.543;DANN_score=0.184;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.21;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.168;phastCons7way_vertebrate=0.246;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=8.094;GDI_full_10282015=.;dpsi_max_tissue=0.1676;dpsi_zscore=0.656;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4329;gnomAD_exome_AFR=0.2047;gnomAD_exome_AMR=0.4185;gnomAD_exome_ASJ=0.3266;gnomAD_exome_EAS=0.2489;gnomAD_exome_FIN=0.5289;gnomAD_exome_NFE=0.4878;gnomAD_exome_OTH=0.4404;gnomAD_exome_SAS=0.4292;gnomAD_genome_ALL=0.4043;gnomAD_genome_AFR=0.2092;gnomAD_genome_AMR=0.4183;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.2320;gnomAD_genome_FIN=0.5284;gnomAD_genome_NFE=0.5016;gnomAD_genome_OTH=0.5021;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-744.366,0,-953.569:968:504:430:12459:14894 0/1:-1040.82,0,-1272.52:1299:652:599:17271:19811 0/1:-947.176,0,-955.631:1078:514:532:15348:15273 . . 0/1:-1336.86,0,-1172.49:1429:638:748:21441:19112 . 0/1:-1124.66,0,-1096.62:1221:581:615:18008:17611 . 0/1:-967.962,0,-1105.3:1187:580:574:16436:17388 . . 0/1:-789.538,0,-800.598:913:434:449:12989:12805 . . . 1/1:-1693.76,-226.725,0:797:2:761:21218:35 1/1:-4800.13,-524.818,0:2189:43:2063:59551:1278 1/1:-2333.82,-288.036,0:1015:3:966:28443:64 . . 0/1:-1052.3,0,-1130.7:1230:593:599:17367:17816 1/1:-1349.64,-162.305,0:631:7:592:16950:204 . 1/1:-2478.1,-294.844,0:1105:12:1056:30772:329 . 1/1:-2460.16,-292.281,0:1095:11:1045:30407:300 . 1/1:-1607,-204.463,0:776:9:733:20822:213 0/1:-655.261,0,-686.811:789:374:373:10824:11148 . . . . 0/1:-1015.81,0,-1144.56:1228:602:580:16592:18070 0/1:-1111.94,0,-1105.78:1237:593:609:17803:17667 0/1:-853.36,0,-759.414:923:414:472:13770:12475 1/1:-2539.9,-300.522,0:1124:13:1074:31036:330 . 1/1:-1347.2,-165.996,0:631:7:595:16707:189 0/1:-1279.55,0,-1300.33:1422:684:709:20753:20402 0/1:-772.498,0,-750.649:871:399:441:12765:11844 . 1/1:-2084.99,-235.748,0:973:20:912:25906:513 0/1:-1137.47,0,-1257.38:1395:684:657:18750:19972 . 0/1:-916.782,0,-988.281:1074:521:518:15254:15854 0/1:-436.962,0,-523.811:552:275:260:7357:8395 . 0/1:-1096.37,0,-1302.03:1330:668:618:18000:20250 . 0/1:-780.614,0,-953.898:1064:526:495:13638:15532 0/1:-1305.88,0,-1367.43:1507:721:738:21208:21542 . 0/1:-500.504,0,-645.803:664:338:305:8712:10207 1/1:-1825.5,-232.491,0:835:3:796:22447:100 . 1/1:-1286.51,-153.1,0:623:11:590:16564:317 . . 0/1:-502.29,0,-529.089:619:296:299:8532:8559 0/1:-1053.56,0,-1170.05:1303:628:627:17748:18628 . . . 0/1:-1050.3,0,-978.074:1112:522:558:16754:15699 . 1/1:-2335.56,-276.453,0:1030:9:982:28506:271 0/1:-765.759,0,-766.675:905:417:455:12912:12345 0/1:-777.575,0,-986.012:1031:520:475:13221:15599 . 0/1:-1149.49,0,-1271.67:1357:662:658:18827:19895 . . 0/1:-787.202,0,-944.015:976:498:444:13003:15053 1/1:-2705.55,-346.138,0:1249:9:1194:33881:197 . . . 0/1:-652.012,0,-376.395:596:225:348:10099:6609 0/1:-960.551,0,-978.436:1116:530:546:15779:16010 0/1:-965.141,0,-1229.25:1238:647:547:16116:19153 . 1/1:-2050.29,-243.936,0:968:16:901:25545:430 1/1:-1961.18,-207.384,0:914:25:854:24655:680 0/1:-875.236,0,-900.005:1011:483:491:14142:14250 0/1:-772.172,0,-814.262:884:424:429:12490:12870 0/1:-947.57,0,-995.595:1111:524:547:15500:16010 0/1:-508.862,0,-669.584:649:340:288:8532:10397 . 0/1:-1251.13,0,-1578.26:1603:829:715:20553:24458 0/1:-803.119,0,-755.362:955:440:480:13757:12706 0/1:-1150.12,0,-1072.38:1251:580:645:18617:17500 0/1:-1004.34,0,-1091.43:1208:581:583:16784:17664 0/1:-979.923,0,-1102.7:1173:581:556:15971:17515 . . . . 0/1:-495.25,0,-692.462:605:329:261:7764:10274:329,261 0/1:-1047.75,0,-1032.82:1027:494:515:15849:15599:494,515 1/1:-3042.2,-330.963,0:1235:11:1193:36233:356:11,1193 0/1:-976.619,0,-1117.47:1032:526:490:14910:16584:526,490 0/1:-1225.05,0,-1238.73:1217:580:617:18538:18503:580,617 . . 0/1:-1210.77,0,-1166.36:1206:573:612:18298:17872:573,612 0/1:-825.509,0,-853.363:827:396:414:12483:12713:396,414 1/1:-2455.31,-251.046,0:1007:17:970:29623:543:17,970 0/1:-786.506,0,-1205.22:989:546:420:12745:17312:546,420 0/1:-1019.21,0,-1364.11:1213:649:542:16301:20122:649,542 0/1:-933.291,0,-873.416:916:431:467:14145:13371:431,467 0/1:-1160.37,0,-1414.65:1280:667:591:17976:20929:667,591 1/1:-2417.63,-263.341,0:969:8:938:28388:244:8,938 . 1/1:-2721.65,-277.461,0:1123:18:1073:32625:579:18,1073 chr10 69933969 . G A 12996.65 . AB=0.442529;ABP=32.9616;AC=90;AF=0.5;AN=140;AO=462;CIGAR=1X;DP=78791;DPB=1044;DPRA=0;EPP=6.18761;EPPR=3.80435;GTI=0;LEN=1;MEANALT=3;MQM=35.4675;MQMR=37.4683;NS=1;NUMALT=1;ODDS=1713;PAIRED=0.950216;PAIREDR=0.94403;PAO=0;PQA=0;PQR=0;PRO=0;QA=12935;QR=15682;RO=536;RPL=253;RPP=12.1098;RPPR=7.15878;RPR=209;RUN=1;SAF=197;SAP=24.7438;SAR=265;SF=0,1;SRF=227;SRP=30.2509;SRR=309;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2120A:p.S707N,MYPN:NM_001256267:exon12:c.G2120A:p.S707N,MYPN:NM_001256268:exon15:c.G1238A:p.S413N;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.3924;esp6500siv2_ea=0.4798;esp6500siv2_all=0.3924;esp6500siv2_ea=0.4798;1000g2015aug_all=0.32508;avsnp147=rs7916821;Kaviar_AF=0.422659;Kaviar_AC=65344;Kaviar_AN=154602;ExAC_ALL=0.4258;ExAC_AFR=0.2092;ExAC_AMR=0.4141;ExAC_EAS=0.2041;ExAC_FIN=0.5380;ExAC_NFE=0.4795;ExAC_OTH=0.4515;ExAC_SAS=0.4236;CLNALLELEID=40458;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.271;SIFT_pred=T;Polyphen2_HDIV_score=0.091;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=0.978;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.104;CADD_raw=1.882;CADD_phred=15.48;DANN_score=0.987;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.933;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.68;phyloP7way_vertebrate=0.630;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.517;phastCons20way_mammalian=0.852;SiPhy_29way_logOdds=8.752;GDI_full_10282015=.;dpsi_max_tissue=0.3193;dpsi_zscore=0.918;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4283;gnomAD_exome_AFR=0.2043;gnomAD_exome_AMR=0.4160;gnomAD_exome_ASJ=0.3266;gnomAD_exome_EAS=0.1982;gnomAD_exome_FIN=0.5270;gnomAD_exome_NFE=0.4873;gnomAD_exome_OTH=0.4364;gnomAD_exome_SAS=0.4273;gnomAD_genome_ALL=0.4011;gnomAD_genome_AFR=0.2082;gnomAD_genome_AMR=0.4099;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.1923;gnomAD_genome_FIN=0.5266;gnomAD_genome_NFE=0.5011;gnomAD_genome_OTH=0.4969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-755.73,0,-996.105:1044:536:462:12935:15682 0/1:-1026.09,0,-1282.51:1376:684:633:17701:20382 0/1:-838.386,0,-1125.57:1179:611:523:14482:17827 . . 0/1:-1262.49,0,-1218.85:1481:673:752:20904:19887 . 0/1:-985.018,0,-1050.36:1252:593:609:16485:17455 . 0/1:-823.968,0,-1163.44:1198:620:527:14567:18419 . . 0/1:-761.914,0,-784.019:949:438:470:12926:12890 . . . 1/1:-1642.27,-220.811,0:822:5:766:20991:128 1/1:-4816.86,-557.67,0:2309:40:2131:60014:1146 1/1:-2520.15,-323.873,0:1143:3:1094:30772:77 . . 0/1:-1034.75,0,-1235.39:1358:656:646:17713:19625 1/1:-1290.14,-162.396,0:654:10:607:16853:291 . 1/1:-2484.94,-299.509,0:1198:19:1114:31345:500 . 1/1:-2401.72,-285.416,0:1152:20:1077:30554:568 . 1/1:-1639.05,-222.431,0:844:6:785:21325:177 0/1:-650.931,0,-738.9:871:419:404:11055:12080 . . . . 0/1:-951.541,0,-1196.98:1302:652:592:16416:19236 0/1:-1057.3,0,-952.841:1208:540:619:17195:15866 0/1:-781.015,0,-680.009:898:395:465:12772:11718 1/1:-2616.66,-328.912,0:1229:11:1159:32453:330 . 1/1:-1430.15,-180.757,0:687:8:650:17902:205 0/1:-1123.6,0,-1438.3:1532:767:695:19328:22817 0/1:-755.518,0,-809.759:956:439:479:13062:13229 . 1/1:-2135.77,-254.858,0:1049:21:967:26933:538 0/1:-1142.08,0,-1325.18:1472:721:697:19490:21187 . 0/1:-782.126,0,-996.304:1091:547:496:13663:16067 0/1:-471.344,0,-509.763:610:287:296:7826:8548 . 0/1:-1087.72,0,-1344.48:1431:723:635:18301:21337 . 0/1:-662.089,0,-936.533:1074:552:461:12428:15994 0/1:-1346.63,0,-1337.67:1599:744:785:22081:21603 . 0/1:-450.492,0,-523.424:664:314:309:8407:8761 1/1:-2045.85,-265.754,0:945:3:895:25299:64 . 1/1:-1135.9,-140.6,0:597:16:548:14822:363 . . 0/1:-444.284,0,-508.958:627:296:295:7834:8705 0/1:-1003.88,0,-1306.94:1418:709:644:17553:20918 . . . 0/1:-894.567,0,-1091.66:1192:596:541:15222:17593 . 1/1:-2315.21,-295.93,0:1082:7:1025:28642:203 0/1:-708.042,0,-809.063:972:452:472:12507:13280 0/1:-751.325,0,-1033.86:1116:558:493:13421:16525 . 0/1:-1137.66,0,-1379.53:1485:739:696:19010:21812 . . 0/1:-837.622,0,-902.035:1032:495:495:13678:14799 1/1:-2661.96,-349.783,0:1349:12:1236:33468:319 . . . 0/1:-639.092,0,-403.27:642:246:379:10519:7336 0/1:-922.205,0,-883.205:1139:515:565:15528:14766 0/1:-1006.72,0,-1165.54:1300:638:604:17116:18958 . 1/1:-2072.04,-261.893,0:1018:14:959:26298:403 1/1:-1887.41,-212.857,0:933:21:860:23927:591 0/1:-784.369,0,-979.089:1068:528:480:13128:15530 0/1:-742.02,0,-785.743:888:420:434:12171:12484 0/1:-923.613,0,-978.439:1177:555:569:15722:16336 0/1:-500.139,0,-694.174:707:368:305:8503:10908 . 0/1:-1156.8,0,-1668.37:1657:887:693:19796:26243 0/1:-827.611,0,-818.766:1043:473:518:14155:13861 0/1:-1110.55,0,-1108.91:1358:639:671:18647:18713 0/1:-968.196,0,-1112.99:1281:618:596:16818:18377 0/1:-884.503,0,-1118.23:1244:624:563:15323:18317 . . . . 0/1:-615.485,0,-738.134:670:352:304:9540:10992:352,304 0/1:-1058.28,0,-1136.25:1093:544:534:16463:17045:544,534 1/1:-3378.75,-368.214,0:1367:14:1326:40030:419:14,1326 0/1:-1031,0,-1145.71:1093:548:525:15979:17111:548,525 0/1:-1242.76,0,-1283.1:1268:612:633:19026:19304:612,633 . . 0/1:-1260.86,0,-1361.74:1302:644:638:19366:20358:644,638 0/1:-953.294,0,-890.46:909:427:469:14355:13434:427,469 1/1:-2795.85,-302.743,0:1138:13:1099:33499:375:13,1099 0/1:-980.925,0,-1277.21:1117:595:505:15434:18654:595,505 0/1:-1268.43,0,-1461.06:1369:705:638:19540:22033:705,638 0/1:-1017.65,0,-1077.9:1058:530:509:15549:16463:530,509 0/1:-1251.23,0,-1352.44:1291:651:627:19237:20231:651,627 1/1:-2653.98,-300.728,0:1032:2:1017:31063:68:2,1017 . 1/1:-2892.02,-304.245,0:1182:15:1141:34694:497:15,1141 chr10 69934012 . C A 7078.53 . AB=0.493166;ABP=3.36644;AC=5;AF=0.5;AN=10;AO=433;CIGAR=1X;DP=4536;DPB=878;DPRA=0;EPP=14.0883;EPPR=21.1901;GTI=0;LEN=1;MEANALT=3;MQM=35.5958;MQMR=33.8744;NS=1;NUMALT=1;ODDS=1565.45;PAIRED=0.963048;PAIREDR=0.92093;PAO=0;PQA=0;PQR=0;PRO=0;QA=11927;QR=12460;RO=430;RPL=227;RPP=5.22189;RPPR=3.73749;RPR=206;RUN=1;SAF=152;SAP=86.464;SAR=281;SF=0,1;SRF=164;SRP=55.5498;SRR=266;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2163A:p.A721A,MYPN:NM_001256267:exon12:c.C2163A:p.A721A,MYPN:NM_001256268:exon15:c.C1281A:p.A427A;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0434;esp6500siv2_ea=0.0123;esp6500siv2_all=0.0434;esp6500siv2_ea=0.0123;1000g2015aug_all=0.0429313;avsnp147=rs71584491;Kaviar_AF=0.0226258;Kaviar_AC=3498;Kaviar_AN=154602;ExAC_ALL=0.0238;ExAC_AFR=0.1129;ExAC_AMR=0.0125;ExAC_EAS=0;ExAC_FIN=0.0079;ExAC_NFE=0.0144;ExAC_OTH=0.0297;ExAC_SAS=0.0323;CLNALLELEID=40466;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0697;dpsi_zscore=0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0215;gnomAD_exome_AFR=0.1146;gnomAD_exome_AMR=0.0120;gnomAD_exome_ASJ=0.0184;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0109;gnomAD_exome_NFE=0.0143;gnomAD_exome_OTH=0.0208;gnomAD_exome_SAS=0.0324;gnomAD_genome_ALL=0.0416;gnomAD_genome_AFR=0.1100;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0164;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-718.432,0,-694.865:878:430:433:11927:12460 . 0/1:-651.314,0,-611.946:746:352:384:10743:10293 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-960.264,0,-912.796:954:464:482:14464:13975:464,482 . . . . . 0/1:-1039.62,0,-1137.43:1124:568:550:16283:17267:568,550 . . . 0/1:-748.601,0,-929.284:834:441:390:11750:13760:441,390 . chr10 69934258 . C G 8233.30 . AB=0.454795;ABP=15.9677;AC=106;AF=0.5;AN=168;AO=332;CIGAR=1X;DP=71223;DPB=730;DPRA=0;EPP=68.4161;EPPR=80.1154;GTI=0;LEN=1;MEANALT=3;MQM=33.3133;MQMR=34.5301;NS=1;NUMALT=1;ODDS=949.671;PAIRED=0.972892;PAIREDR=0.937158;PAO=0;PQA=0;PQR=0;PRO=0;QA=7969;QR=10083;RO=366;RPL=170;RPP=3.4289;RPPR=7.66176;RPR=162;RUN=1;SAF=176;SAP=5.62653;SAR=156;SF=0,1;SRF=163;SRP=12.5031;SRR=203;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2409G:p.S803R,MYPN:NM_001256267:exon12:c.C2409G:p.S803R,MYPN:NM_001256268:exon15:c.C1527G:p.S509R;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.5230;esp6500siv2_ea=0.5509;esp6500siv2_all=0.5230;esp6500siv2_ea=0.5509;1000g2015aug_all=0.471446;avsnp147=rs3814182;Kaviar_AF=0.512788;Kaviar_AC=79278;Kaviar_AN=154602;ExAC_ALL=0.5205;ExAC_AFR=0.4598;ExAC_AMR=0.4522;ExAC_EAS=0.3647;ExAC_FIN=0.6409;ExAC_NFE=0.5520;ExAC_OTH=0.5363;ExAC_SAS=0.5113;CLNALLELEID=40468;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=0.879;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.417;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.951;MutationTaster_pred=P;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_pred=N;VEST3_score=0.386;CADD_raw=2.029;CADD_phred=16.40;DANN_score=0.968;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-9.63;phyloP7way_vertebrate=-0.760;phyloP20way_mammalian=-0.330;phastCons7way_vertebrate=0.573;phastCons20way_mammalian=0.913;SiPhy_29way_logOdds=19.595;GDI_full_10282015=.;dpsi_max_tissue=-1.0547;dpsi_zscore=-1.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5203;gnomAD_exome_AFR=0.4602;gnomAD_exome_AMR=0.4632;gnomAD_exome_ASJ=0.4294;gnomAD_exome_EAS=0.3663;gnomAD_exome_FIN=0.6304;gnomAD_exome_NFE=0.5577;gnomAD_exome_OTH=0.5190;gnomAD_exome_SAS=0.5127;gnomAD_genome_ALL=0.5276;gnomAD_genome_AFR=0.4519;gnomAD_genome_AMR=0.4483;gnomAD_genome_ASJ=0.4669;gnomAD_genome_EAS=0.3781;gnomAD_genome_FIN=0.6211;gnomAD_genome_NFE=0.5682;gnomAD_genome_OTH=0.5760;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-426.62,0,-597.224:730:366:332:7969:10083 0/1:-670.319,0,-821.872:1019:492:480:11734:13843 0/1:-515.828,0,-772.991:863:449:387:9667:12863 0/1:-267.306,0,-441.668:497:263:212:5067:7313 . 0/1:-646.785,0,-862.308:1071:534:496:11797:14444 . 1/1:-1688.38,-210.388,0:1003:48:907:21999:979 . 0/1:-494.465,0,-710.407:824:419:375:9222:11831 . . 0/1:-482.223,0,-646.075:782:393:361:8976:11041 . . 0/1:-980.768,0,-994.318:1342:630:670:16752:17179 1/1:-922.544,-122.032,0:576:35:510:12433:567 1/1:-3155.91,-406.906,0:1809:81:1641:40501:1400 1/1:-1620.56,-209.611,0:909:41:828:20313:708 0/1:-268.298,0,-489.746:561:301:237:5511:8485 . . 1/1:-642.035,-80.7127,0:415:28:363:8942:456 . 0/1:-623.059,0,-736.512:953:451:452:10974:12572 . 1/1:-1438.15,-182.38,0:814:37:748:18247:710 1/1:-1828.79,-234.855,0:1025:41:932:22958:777 0/1:-311.556,0,-343.433:512:241:243:5824:6477 . . 1/1:-1876.97,-250.004,0:1043:40:960:24007:624 . . 0/1:-559.599,0,-696.982:849:423:390:9866:11672 0/1:-607.6,0,-731.602:931:458:438:10841:12389 0/1:-522.588,0,-559.796:778:364:388:9255:9858 0/1:-529.739,0,-595.988:803:379:389:9548:10762 . 0/1:-356.389,0,-430.053:553:279:250:6322:7409 . 0/1:-469.774,0,-761.132:844:451:354:8729:12350 1/1:-1622.52,-210.355,0:912:32:833:20682:599 1/1:-1425.68,-181.334,0:852:43:759:18477:763 0/1:-726.417,0,-868.559:1102:536:525:13034:14573 . 0/1:-526.425,0,-662.666:857:415:399:9758:11378 0/1:-343.606,0,-406.036:515:251:244:5944:6874 . 0/1:-737.149,0,-857.579:1095:526:520:12805:14499 0/1:-695.917,0,-922.374:1069:526:504:12358:15016 0/1:-356.451,0,-490.039:644:325:298:7177:8737 0/1:-790.434,0,-963.336:1172:573:555:13807:16075 0/1:-692.82,0,-775.366:1026:487:496:12063:13165 . 0/1:-470.892,0,-649.406:743:375:339:8495:10588 0/1:-639.946,0,-723.976:948:462:446:11108:12350 1/1:-623.639,-89.6206,0:397:23:352:8594:413 0/1:-377.368,0,-607.645:638:350:268:6793:9857 0/1:-628.761,0,-630.425:858:407:418:10695:11115 0/1:-230.816,0,-329.389:447:226:200:4815:6009 0/1:-583.778,0,-939.821:1038:556:445:11041:15435 0/1:-531.155,0,-613.014:758:375:360:9017:10056 0/1:-255.844,0,-433.328:533:292:217:5114:7806 . 0/1:-608.977,0,-686.135:888:412:434:10606:11500 0/1:-187.982,0,-278.3:343:176:155:3707:4928 1/1:-1574.96,-204.023,0:885:35:809:19844:656 0/1:-508.214,0,-583.385:742:352:356:8861:10062 0/1:-471.07,0,-700.712:786:413:349:8634:11562 0/1:-554.011,0,-660.025:864:412:420:10162:11449 0/1:-642.754,0,-1001.34:1108:571:491:11779:16182 . . 0/1:-487.001,0,-604.566:745:367:358:8814:10276 1/1:-1740.79,-227.012,0:1029:54:926:22295:928 . 0/1:-596.542,0,-796.478:951:475:444:10888:13208 . 0/1:-328.249,0,-428.648:519:259:238:5914:7055 0/1:-450.322,0,-887.667:933:521:375:8739:14161 1/1:-1633.3,-213.761,0:953:41:856:21136:747 . 1/1:-1292.25,-154.738,0:759:38:684:16877:819 1/1:-1247.87,-144.433,0:773:49:674:16471:951 1/1:-1376.51,-179.462,0:775:30:712:17631:558 . 0/1:-533.107,0,-878.298:948:503:411:10113:14043 0/1:-319.488,0,-450.26:505:264:230:5779:7379 0/1:-553.781,0,-582.707:816:371:405:10069:10273 0/1:-871.195,0,-859.011:1173:538:593:15074:14868 0/1:-588.779,0,-656.552:870:414:424:10265:11410 1/1:-1881.82,-232.873,0:1057:53:959:23800:925 0/1:-600.652,0,-783.771:959:479:447:10838:13469 0/1:-533.048,0,-845.359:973:509:419:10003:13867 . 1/1:-2598.42,-299.676,0:1141:21:1086:30877:420:21,1086 . 0/1:-907.645,0,-1015.08:1014:521:476:14055:15570:521,476 0/1:-449.367,0,-557.424:552:283:253:7201:8547:283,253 0/1:-649.076,0,-734.35:744:363:364:10350:11159:363,364 0/1:-796.457,0,-1001.97:984:504:459:12771:15435:504,459 0/1:-807.875,0,-731.573:838:376:441:12327:11558:376,441 1/1:-2196.9,-247.204,0:969:21:922:26147:483:21,922 . . 0/1:-815.233,0,-913.567:953:474:454:12898:14135:474,454 0/1:-599.719,0,-759.251:716:375:326:9511:11327:375,326 1/1:-1746.15,-196.582,0:768:16:735:20835:357:16,735 0/1:-675.624,0,-771.469:795:392:382:10788:11631:392,382 0/1:-768.485,0,-792.917:852:409:419:12024:12298:409,419 0/1:-692.035,0,-733.384:767:373:374:10875:11238:373,374 0/1:-981.74,0,-966.399:1051:504:522:15165:15053:504,522 1/1:-1633.4,-181.938,0:726:15:690:19482:351:15,690 . 0/1:-831.605,0,-816.723:889:422:446:12795:12630:422,446 chr10 69934259 . G A 5683.39 . AB=0.491803;ABP=3.50867;AC=4;AF=0.5;AN=8;AO=420;CIGAR=1X;DP=3373;DPB=854;DPRA=0;EPP=107.262;EPPR=62.0801;GTI=0;LEN=1;MEANALT=3;MQM=35.5595;MQMR=33.8213;NS=1;NUMALT=1;ODDS=1264.31;PAIRED=0.969048;PAIREDR=0.946667;PAO=0;PQA=0;PQR=0;PRO=0;QA=10891;QR=10385;RO=375;RPL=206;RPP=3.34119;RPPR=3.98891;RPR=214;RUN=1;SAF=189;SAP=12.1305;SAR=231;SF=0;SRF=174;SRP=7.23164;SRR=201;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2410A:p.G804R,MYPN:NM_001256267:exon12:c.G2410A:p.G804R,MYPN:NM_001256268:exon15:c.G1528A:p.G510R;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0245;esp6500siv2_ea=0.035;esp6500siv2_all=0.0245;esp6500siv2_ea=0.035;1000g2015aug_all=0.0103834;avsnp147=rs62620248;Kaviar_AF=0.0191589;Kaviar_AC=2962;Kaviar_AN=154602;ExAC_ALL=0.0184;ExAC_AFR=0.0048;ExAC_AMR=0.0142;ExAC_EAS=0.0001;ExAC_FIN=0.0101;ExAC_NFE=0.0278;ExAC_OTH=0.0231;ExAC_SAS=0.0045;CLNALLELEID=40469;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.384;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.980;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=0.59;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_pred=N;VEST3_score=0.122;CADD_raw=2.875;CADD_phred=21.7;DANN_score=0.997;fathmm-MKL_coding_score=0.837;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.038;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.8;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.703;phastCons20way_mammalian=0.959;SiPhy_29way_logOdds=12.540;GDI_full_10282015=.;dpsi_max_tissue=-0.1627;dpsi_zscore=-0.609;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0184;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0140;gnomAD_exome_ASJ=0.0264;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0099;gnomAD_exome_NFE=0.0292;gnomAD_exome_OTH=0.0188;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0154;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0095;gnomAD_genome_NFE=0.0245;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-646.357,0,-563.824:854:375:420:10891:10385 . . . . . . . . . 0/1:-510.873,0,-571.085:770:361:356:9107:10180 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-487.444,0,-612.446:791:389:355:9011:10826 . . 0/1:-701.481,0,-708.619:958:436:462:12010:12071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69935235 . T C 9352.48 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=392;CIGAR=1X;DP=48782;DPB=412;DPRA=0;EPP=35.0063;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=38.5077;MQMR=27;NS=1;NUMALT=1;ODDS=530.382;PAIRED=0.982143;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=11118;QR=56;RO=4;RPL=191;RPP=3.56425;RPPR=11.6962;RPR=201;RUN=1;SAF=45;SAP=508.232;SAR=347;SF=0,1;SRF=0;SRP=11.6962;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.9822;esp6500siv2_ea=0.9990;esp6500siv2_all=0.9822;esp6500siv2_ea=0.9990;1000g2015aug_all=0.982428;avsnp147=rs6480306;Kaviar_AF=0.951864;Kaviar_AC=147160;Kaviar_AN=154602;ExAC_ALL=0.9938;ExAC_AFR=0.9403;ExAC_AMR=0.9973;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9967;ExAC_SAS=0.9962;CLNALLELEID=142122;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1522;dpsi_zscore=0.622;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9949;gnomAD_exome_AFR=0.9376;gnomAD_exome_AMR=0.9973;gnomAD_exome_ASJ=0.9952;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9960;gnomAD_exome_SAS=0.9961;gnomAD_genome_ALL=0.9818;gnomAD_genome_AFR=0.9367;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-940.538,-115.225,0:412:4:392:11118:56 1/1:-1364.97,-164.513,0:577:3:554:15906:42 1/1:-1017.04,-123.668,0:432:3:420:12046:42 1/1:-728.525,-90.8962,0:314:1:305:8514:14 1/1:-981.909,-122.164,0:422:1:409:11436:14 1/1:-1282.02,-163.158,0:554:0:542:14999:0 1/1:-909.041,-108.937,0:389:4:371:10712:56 1/1:-968.202,-115.202,0:403:2:387:11403:28 1/1:-859.129,-107.769,0:368:0:358:10096:0 1/1:-1259.69,-155.03,0:528:0:515:14825:0 1/1:-914.644,-115.183,0:405:3:390:10851:42 1/1:-1074.6,-133.055,0:452:0:442:12548:0 1/1:-905.618,-114.445,0:395:1:380:10778:14 1/1:-848.852,-106.804,0:381:4:367:10095:56 1/1:-860.041,-103.141,0:368:2:349:10328:28 1/1:-1304.88,-158.548,0:553:2:531:15132:28 1/1:-866.404,-105.543,0:377:4:363:10305:56 1/1:-1816.3,-220.033,0:761:1:734:21246:14 1/1:-1102.12,-135.425,0:465:1:451:12981:14 1/1:-719.291,-87.8452,0:303:1:295:8359:14 1/1:-712.9,-84.2157,0:307:2:290:8356:41 1/1:-1147.48,-138.044,0:488:3:468:13483:42 1/1:-616.117,-74.3342,0:267:1:250:7333:14 1/1:-1284.69,-151.29,0:530:3:512:14969:42 1/1:-1056.14,-127.428,0:457:2:436:12412:50 1/1:-722.663,-92.377,0:322:1:308:8486:14 1/1:-1065.78,-129.134,0:445:1:432:12579:14 1/1:-1045.23,-129.132,0:456:1:436:12247:27 1/1:-848.735,-106.514,0:373:2:358:9837:28 1/1:-812.841,-98.4938,0:340:1:327:9468:14 1/1:-964.128,-115.275,0:402:1:386:11369:14 1/1:-1397.25,-170.259,0:594:3:575:16333:42 1/1:-992.385,-124.024,0:429:0:412:11572:0 1/1:-695.896,-86.947,0:306:2:293:8226:28 1/1:-1180.52,-141.738,0:492:2:475:13813:28 1/1:-1298.6,-160.695,0:551:1:537:15236:14 1/1:-628.275,-80.2669,0:282:2:273:7518:28 1/1:-1313.59,-158.272,0:542:3:530:15386:77 1/1:-891.502,-116.499,0:398:0:387:10467:0 1/1:-631.292,-78.6222,0:271:1:261:7372:14 1/1:-1262.28,-154.373,0:531:1:516:14830:14 1/1:-920.047,-112.057,0:392:2:385:10864:50 1/1:-979.187,-122.466,0:418:1:410:11482:14 1/1:-972.204,-120.055,0:417:1:402:11373:14 1/1:-1434.12,-173.694,0:588:0:577:16664:0 1/1:-1057.54,-127.57,0:452:2:430:12372:28 1/1:-1039.93,-129.689,0:457:1:434:12219:14 1/1:-557.968,-68.0148,0:238:1:229:6565:14 1/1:-896.585,-112.566,0:396:1:377:10529:14 1/1:-1297.47,-161.954,0:552:0:538:15272:0 1/1:-1034.69,-128.219,0:445:1:429:12138:14 1/1:-899.77,-109.908,0:396:4:381:10813:74 1/1:-1358.17,-164.735,0:569:1:552:15844:21 1/1:-1184.1,-146,0:501:0:485:13818:0 1/1:-679.854,-87.7877,0:317:3:299:8140:42 1/1:-904.45,-113.737,0:389:1:381:10630:14 1/1:-1078.74,-133.836,0:472:3:454:12660:42 1/1:-507.515,-64.775,0:228:1:215:6042:14 1/1:-781.021,-96.9675,0:340:2:325:9254:28 1/1:-1013.8,-125.508,0:430:1:420:11890:14 1/1:-720.785,-87.2987,0:300:0:290:8476:0 1/1:-1239.91,-155.081,0:540:1:515:14503:14 1/1:-913.616,-111.371,0:392:1:373:10525:14 1/1:-747.707,-96.0286,0:334:0:319:8945:0 1/1:-1282.84,-158.631,0:545:1:530:15008:14 1/1:-967.95,-118.546,0:416:2:398:11398:28 1/1:-616.86,-75.5534,0:269:3:255:7209:42 1/1:-1197.43,-143.892,0:489:0:478:13865:0 1/1:-823.394,-104.492,0:364:2:350:9727:28 1/1:-976.825,-117.235,0:412:3:399:11521:42 1/1:-1098.91,-134.166,0:462:2:450:12844:28 1/1:-1172.81,-143.591,0:492:0:477:13673:0 1/1:-1333.04,-162.255,0:556:0:539:15525:0 1/1:-665.342,-90.2997,0:317:1:303:7965:14 1/1:-1020.06,-122.519,0:417:0:407:11960:0 1/1:-1052.08,-131.245,0:451:2:439:12314:28 1/1:-1129.43,-137.318,0:481:3:459:13182:42 1/1:-1121.07,-137.706,0:489:3:467:13293:42 1/1:-751.72,-93.0183,0:313:0:309:8824:0 1/1:-625.384,-77.9668,0:267:0:259:7309:0 1/1:-1093.86,-127.418,0:457:5:437:12762:70 1/1:-1164.57,-138.838,0:483:2:467:13672:35 1/1:-1244.17,-153.826,0:526:0:511:14521:0 1/1:-1010.65,-120.043,0:422:2:405:11833:28 1/1:-784.756,-94.4909,0:354:5:339:9531:114 1/1:-825.01,-104.105,0:356:1:349:9861:14 1/1:-871.763,-109.219,0:378:1:366:10223:14 1/1:-952.579,-117.933,0:419:3:399:11145:42 1/1:-521.308,-67.1297,0:228:0:223:6126:0 1/1:-1153.44,-138.7,0:491:2:467:13406:28 1/1:-1513.32,-181.451,0:648:5:624:17961:95 1/1:-809.656,-101.692,0:354:1:341:9486:14 1/1:-1246.09,-154.992,0:528:1:516:14549:14 1/1:-1085.45,-129.924,0:462:3:441:12783:42 1/1:-1044.17,-128.54,0:444:0:427:12213:0 . 1/1:-1087.35,-124.626,0:424:0:414:12816:0:0,414 1/1:-1179.79,-130.948,0:442:0:435:13642:0:0,435 1/1:-1235.99,-138.146,0:468:1:462:14239:14:1,462 1/1:-657.753,-73.7524,0:250:0:245:7664:0:0,245 1/1:-1127.64,-128.222,0:438:1:429:13058:14:1,429 1/1:-1370.41,-155.331,0:523:0:516:15899:0:0,516 1/1:-1142.51,-130.562,0:447:2:438:13329:28:2,438 1/1:-1113.05,-128.239,0:435:0:426:13039:0:0,426 1/1:-1126.26,-127.637,0:433:0:424:12928:0:0,424 1/1:-1014.23,-113.789,0:383:0:378:11666:0:0,378 1/1:-1229.93,-139.076,0:471:0:462:14287:0:0,462 1/1:-978.016,-109.274,0:365:0:363:11397:0:0,363 1/1:-895.925,-102.314,0:353:1:341:10439:14:1,341 1/1:-990.806,-115.897,0:394:0:385:11622:0:0,385 1/1:-1185.59,-133.958,0:449:0:445:13831:0:0,445 1/1:-1055.83,-120.111,0:404:0:399:12326:0:0,399 1/1:-1122.04,-126.734,0:428:0:421:12978:0:0,421 1/1:-992.474,-111.983,0:373:0:372:11447:0:0,372 1/1:-1040.56,-115.294,0:390:0:383:12065:0:0,383 1/1:-1096.43,-123.121,0:417:0:409:12748:0:0,409 chr10 69948844 . T C 13132.22 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=630;CIGAR=1X;DP=64232;DPB=645;DPRA=0;EPP=127.439;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=38.6508;MQMR=0;NS=1;NUMALT=1;ODDS=876.361;PAIRED=0.984127;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=17978;QR=0;RO=0;RPL=309;RPP=3.50664;RPPR=0;RPR=321;RUN=1;SAF=203;SAP=175.956;SAR=427;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon13:c.T2886C:p.V962V,MYPN:NM_001256267:exon14:c.T2886C:p.V962V,MYPN:NM_001256268:exon17:c.T2004C:p.V668V;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.9855;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9855;esp6500siv2_ea=0.9994;1000g2015aug_all=0.984625;avsnp147=rs10733838;Kaviar_AF=0.948526;Kaviar_AC=146644;Kaviar_AN=154602;ExAC_ALL=0.9956;ExAC_AFR=0.9524;ExAC_AMR=0.9983;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9978;ExAC_SAS=1;CLNALLELEID=40459;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5363;dpsi_zscore=-1.127;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9963;gnomAD_exome_AFR=0.9498;gnomAD_exome_AMR=0.9982;gnomAD_exome_ASJ=0.9953;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9971;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9854;gnomAD_genome_AFR=0.9491;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1533,-189.649,0:645:0:630:17978:0 1/1:-1629.57,-198.714,0:680:2:663:19234:28 1/1:-1633.84,-203.085,0:687:1:676:19257:27 1/1:-921.26,-114.993,0:388:0:382:10994:0 1/1:-1382.72,-170.632,0:583:2:571:16482:28 1/1:-1763.69,-219.641,0:757:1:739:21040:36 1/1:-1266.87,-159.433,0:541:1:531:15061:36 1/1:-1555.68,-193.314,0:658:1:642:18139:14 1/1:-1213.86,-152.676,0:519:1:507:14413:14 1/1:-1522.58,-190.552,0:642:0:633:18024:0 1/1:-1477.57,-186.94,0:629:0:621:17414:0 1/1:-1406.96,-170.082,0:576:0:565:16485:0 1/1:-1335.44,-165.456,0:564:1:551:15851:27 1/1:-1129.2,-142.989,0:488:0:475:13429:0 1/1:-1251.25,-155.03,0:524:0:515:14967:0 1/1:-2185.96,-256.734,0:883:4:868:25732:74 1/1:-1074.64,-136.92,0:468:2:459:12854:28 1/1:-3052.62,-373.566,0:1265:1:1244:35955:14 1/1:-1518.43,-184.294,0:618:1:612:17758:14 1/1:-1062.97,-128.518,0:441:1:430:12637:14 1/1:-1136.16,-136.348,0:476:1:460:13384:27 1/1:-1584.66,-196.127,0:682:2:663:18749:64 1/1:-809.394,-105.059,0:358:0:349:9668:0 1/1:-1784.09,-217.289,0:744:3:729:20932:42 1/1:-1709.7,-209.216,0:703:0:695:20204:0 1/1:-1045,-135.4,0:473:2:460:12512:41 1/1:-1439.22,-179.414,0:612:0:596:16911:0 1/1:-1607.11,-192.839,0:661:3:652:19046:49 1/1:-1023.25,-130.592,0:451:1:437:12339:14 1/1:-1196.54,-144.732,0:501:2:487:13974:28 1/1:-1227.86,-155.576,0:533:1:520:14486:14 1/1:-1763.59,-216.441,0:741:0:719:20780:0 1/1:-1621.1,-196.885,0:665:2:657:19048:28 1/1:-955.089,-114.006,0:393:2:385:11324:28 1/1:-1527.41,-182.277,0:631:2:610:17926:35 1/1:-1637.56,-204.625,0:705:2:686:19466:28 1/1:-961.106,-118.504,0:399:1:395:11319:32 1/1:-1540.54,-191.154,0:648:0:635:18348:0 1/1:-1391.78,-175.933,0:603:2:589:16345:46 1/1:-850.46,-105.662,0:358:0:351:10065:0 1/1:-2011.43,-246.072,0:839:2:823:23818:46 1/1:-1437.39,-175.863,0:592:1:584:16859:14 1/1:-1438.72,-168.544,0:575:2:566:16916:28 1/1:-1603.83,-195.67,0:661:0:650:18863:0 1/1:-2005.62,-247.665,0:847:3:832:23756:42 1/1:-1559.85,-188.623,0:644:2:631:18291:46 1/1:-1459.91,-177.575,0:607:2:596:17242:28 1/1:-861.67,-104.156,0:356:0:346:10062:0 1/1:-1236.43,-152.02,0:516:0:505:14536:0 1/1:-1896.07,-228.974,0:778:2:767:22279:28 1/1:-1576.19,-189.911,0:646:1:632:18420:14 1/1:-1315.85,-174.951,0:594:1:581:15861:14 1/1:-1970.33,-242.007,0:820:1:807:23155:14 1/1:-1683.85,-208.792,0:718:2:700:19859:35 1/1:-975.763,-124.74,0:429:1:424:11716:36 1/1:-1113.86,-132.131,0:454:1:442:13022:14 1/1:-1644.14,-205.302,0:689:0:682:19392:0 1/1:-829.851,-106.4,0:372:1:363:10010:36 1/1:-1063.79,-133.657,0:452:0:444:12407:0 1/1:-1367.4,-170.082,0:580:0:565:16115:0 1/1:-947.92,-125.228,0:427:0:416:11361:0 1/1:-1862.41,-227.579,0:772:0:756:21753:0 1/1:-1237.29,-150.796,0:515:1:504:14471:14 1/1:-1002.11,-130.911,0:444:1:436:12182:14 1/1:-1938.62,-237.212,0:799:0:788:22729:0 1/1:-1511.46,-185.411,0:628:1:619:17752:14 1/1:-866.917,-113.779,0:392:1:381:10462:14 1/1:-1565.39,-195.031,0:661:1:649:18526:14 1/1:-1119.46,-140.027,0:473:1:465:13353:27 1/1:-1646.12,-198.734,0:673:1:660:19353:14 1/1:-1372.04,-168.577,0:570:0:560:16109:0 1/1:-1784.77,-214.924,0:735:1:721:20789:27 1/1:-1774.54,-218.277,0:742:2:728:20940:28 1/1:-1026.43,-135.03,0:476:3:464:12292:62 1/1:-1379.82,-166.732,0:566:1:555:16302:14 1/1:-1684.41,-209.708,0:725:1:706:19807:36 1/1:-1677.14,-206.12,0:703:1:690:19763:21 1/1:-1750.01,-217.043,0:742:0:721:20787:0 1/1:-1048.07,-127.637,0:432:0:424:12383:0 1/1:-771.004,-95.7063,0:326:1:321:9199:14 1/1:-1526.02,-191.154,0:644:0:635:18001:0 1/1:-1737.47,-215.236,0:728:0:715:20694:0 1/1:-1694.97,-211.868,0:717:1:707:20026:14 1/1:-1409.39,-170.535,0:593:3:581:16731:60 1/1:-1136.71,-142.989,0:489:0:475:13414:0 1/1:-1349.86,-163.545,0:564:3:556:16028:60 1/1:-1051.49,-130.346,0:439:0:433:12404:0 1/1:-1565.01,-191.434,0:653:1:639:18530:14 1/1:-872.574,-109.274,0:372:0:363:10499:0 1/1:-1547.34,-188.09,0:639:1:628:18325:14 1/1:-2007.81,-236.158,0:824:7:808:23810:164 1/1:-1360.28,-162.556,0:548:0:540:15915:0 1/1:-1839.1,-220.945,0:751:1:737:21650:14 1/1:-1315.76,-161.643,0:544:1:540:15528:14 1/1:-1793.98,-221.524,0:765:3:745:21387:42 . 1/1:-1047.46,-114.692,0:385:0:381:11996:0:0,381 1/1:-985.722,-111.682,0:374:0:371:11304:0:0,371 1/1:-1162.95,-129.443,0:436:0:430:13375:0:0,430 1/1:-598.901,-66.8287,0:225:0:222:6932:0:0,222 1/1:-915.912,-102.952,0:345:0:342:10560:0:0,342 1/1:-1195.38,-132.754,0:445:0:441:13844:0:0,441 1/1:-936.953,-107.167,0:364:0:356:10892:0:0,356 1/1:-1006.99,-112.083,0:390:2:383:11723:50:2,383 1/1:-838.258,-94.5234,0:318:0:314:9725:0:0,314 1/1:-872.456,-97.2327,0:327:0:323:10086:0:0,323 1/1:-982.839,-112.284,0:377:0:373:11366:0:0,373 1/1:-847.346,-94.1363,0:316:1:314:9813:27:1,314 1/1:-867.246,-97.7787,0:338:1:328:10079:14:1,328 1/1:-908.585,-100.845,0:339:0:335:10528:0:0,335 1/1:-936.739,-106.565,0:357:0:354:10816:0:0,354 1/1:-873.048,-96.4305,0:334:1:330:10126:36:1,330 1/1:-1098.7,-121.014,0:407:0:402:12656:0:0,402 1/1:-884.748,-98.4368,0:334:0:327:10236:0:0,327 1/1:-996.841,-109.575,0:371:0:364:11468:0:0,364 1/1:-854.987,-94.8245,0:317:0:315:9862:0:0,315 chr10 69948892 . G C 4181.00 . AB=0.47156;ABP=6.83926;AC=2;AF=0.5;AN=4;AO=257;CIGAR=1X;DP=1053;DPB=545;DPRA=0;EPP=79.2653;EPPR=98.9221;GTI=0;LEN=1;MEANALT=3;MQM=38.4319;MQMR=39.4577;NS=1;NUMALT=1;ODDS=1016.89;PAIRED=0.968872;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8157;QR=9249;RO=284;RPL=225;RPP=317.739;RPPR=308.851;RPR=32;RUN=1;SAF=49;SAP=216.617;SAR=208;SF=0;SRF=44;SRP=296.74;SRR=240;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0019;1000g2015aug_all=0.0141773;avsnp147=rs12241644;Kaviar_AF=0.0055497;Kaviar_AC=858;Kaviar_AN=154602;ExAC_ALL=0.0059;ExAC_AFR=0.0413;ExAC_AMR=0.0024;ExAC_EAS=0.0002;ExAC_FIN=0.0005;ExAC_NFE=0.0024;ExAC_OTH=0.0055;ExAC_SAS=0.0057;CLNALLELEID=142125;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1714;dpsi_zscore=-0.628;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=0.0419;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0060;gnomAD_genome_ALL=0.0130;gnomAD_genome_AFR=0.0414;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-515.199,0,-620.814:545:284:257:8157:9249 . . . . . . . 0/1:-461.579,0,-573.566:508:266:240:7371:8752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69957222 . G A 7964.23 . AB=0.508455;ABP=3.56112;AC=1;AF=0.5;AN=2;AO=451;CIGAR=1X;DP=887;DPB=887;DPRA=0;EPP=197.533;EPPR=211.806;GTI=0;LEN=1;MEANALT=3;MQM=35.2772;MQMR=34.2043;NS=1;NUMALT=1;ODDS=1637.45;PAIRED=0.920177;PAIREDR=0.927885;PAO=0;PQA=0;PQR=0;PRO=0;QA=13934;QR=13499;RO=416;RPL=301;RPP=112.792;RPPR=136.639;RPR=150;RUN=1;SAF=201;SAP=14.5706;SAR=250;SF=0;SRF=172;SRP=30.0702;SRR=244;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon16:c.G3272A:p.R1091Q,MYPN:NM_001256267:exon17:c.G3272A:p.R1091Q,MYPN:NM_001256268:exon20:c.G2390A:p.R797Q;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs768452699;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.65e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=525765;CLNDN=Dilated_cardiomyopathy_1KK;CLNDISDB=MedGen:C3714995,OMIM:615248;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.054;SIFT_pred=T;Polyphen2_HDIV_score=0.934;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.653;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-3.41;PROVEAN_pred=D;VEST3_score=0.879;CADD_raw=8.057;CADD_phred=35;DANN_score=1.000;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.392;MetaSVM_pred=T;MetaLR_score=0.359;MetaLR_pred=T;integrated_fitCons_score=0.526;integrated_confidence_value=0;GERP++_RS=5.16;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.975;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=18.628;GDI_full_10282015=.;dpsi_max_tissue=-5.8059;dpsi_zscore=-2.591;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.844e-05;gnomAD_exome_AFR=6.536e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.375e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.495e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-837.001,0,-757.336:887:416:451:13934:13499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69959174 . C T 9311.96 . AB=0.482759;ABP=5.40641;AC=3;AF=0.5;AN=6;AO=448;CIGAR=1X;DP=3617;DPB=928;DPRA=0;EPP=29.5527;EPPR=3.93554;GTI=0;LEN=1;MEANALT=3;MQM=33.2768;MQMR=35.4283;NS=1;NUMALT=1;ODDS=1633.74;PAIRED=0.890625;PAIREDR=0.928261;PAO=0;PQA=0;PQR=0;PRO=0;QA=12834;QR=14515;RO=460;RPL=173;RPP=53.4389;RPPR=117.891;RPR=275;RUN=1;SAF=196;SAP=18.2106;SAR=252;SF=0;SRF=217;SRP=6.20142;SRR=243;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3335T:p.P1112L,MYPN:NM_001256267:exon18:c.C3335T:p.P1112L,MYPN:NM_001256268:exon21:c.C2453T:p.P818L;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0024;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0024;1000g2015aug_all=0.00259585;avsnp147=rs71534278;Kaviar_AF=0.002846;Kaviar_AC=440;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0014;ExAC_AMR=0.0026;ExAC_EAS=0.0002;ExAC_FIN=0.0005;ExAC_NFE=0.0033;ExAC_OTH=0.0088;ExAC_SAS=0.0056;CLNALLELEID=40451;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified|Familial_hypertrophic_cardiomyopathy_22|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN169882|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.06;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.61;MutationAssessor_pred=N;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=-5.35;PROVEAN_pred=D;VEST3_score=0.808;CADD_raw=5.849;CADD_phred=27.3;DANN_score=0.999;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.646;MetaSVM_pred=T;MetaLR_score=0.240;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.201;GDI_full_10282015=.;dpsi_max_tissue=-0.1178;dpsi_zscore=-0.501;hgmdCODING=HGMD::Cardiomyopathy,_dilated#18006477;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM086688#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0036;gnomAD_exome_ASJ=0.0098;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0060;gnomAD_genome_ALL=0.0021;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-726.663,0,-878.911:928:460:448:12834:14515 . . . . . . . . . . . . . . . . . . . . 0/1:-987.649,0,-1255.5:1286:660:593:16975:20755 . . . . . . . 0/1:-1141.24,0,-1336.34:1403:697:681:20040:21789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 69959241 . CC CA 24146.40 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1008;CIGAR=1M1X;DP=1071;DPB=1071.5;DPRA=0;EPP=4.05295;EPPR=31.8863;GTI=0;LEN=1;MEANALT=6;MQM=37.3532;MQMR=36.234;NS=1;NUMALT=1;ODDS=1086.11;PAIRED=0.960317;PAIREDR=0.93617;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=30421;QR=1181;RO=47;RPL=625;RPP=129.171;RPPR=36.6912;RPR=383;RUN=1;SAF=474;SAP=10.7656;SAR=534;SF=1;SRF=40;SRP=53.3238;SRR=7;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MYPN:NM_032578:exon17:c.3403delC:p.P1135fs,MYPN:NM_001256267:exon18:c.3403delC:p.P1135fs,MYPN:NM_001256268:exon21:c.2521delC:p.P841fs;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2418.35,-219.642,0:1071:47:1008:30421:1181:47,1008 . . chr10 69959242 . C A 11483.22 . AB=0.476757;ABP=7.3509;AC=92;AF=0.5;AN=146;AO=441;CIGAR=1X;DP=77078;DPB=925;DPRA=0;EPP=17.9053;EPPR=4.05205;GTI=0;LEN=1;MEANALT=3;MQM=31.5941;MQMR=36.5864;NS=1;NUMALT=1;ODDS=1434.22;PAIRED=0.891156;PAIREDR=0.882729;PAO=0;PQA=0;PQR=0;PRO=0;QA=12166;QR=13716;RO=469;RPL=244;RPP=13.8874;RPPR=6.90413;RPR=197;RUN=1;SAF=200;SAP=11.2875;SAR=241;SF=0,1;SRF=221;SRP=6.38557;SRR=248;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3403A:p.P1135T,MYPN:NM_001256267:exon18:c.C3403A:p.P1135T,MYPN:NM_001256268:exon21:c.C2521A:p.P841T;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.4059;esp6500siv2_ea=0.4786;esp6500siv2_all=0.4059;esp6500siv2_ea=0.4786;1000g2015aug_all=0.340256;avsnp147=rs7079481;Kaviar_AF=0.432582;Kaviar_AC=66878;Kaviar_AN=154602;ExAC_ALL=0.4323;ExAC_AFR=0.2533;ExAC_AMR=0.4148;ExAC_EAS=0.2251;ExAC_FIN=0.5374;ExAC_NFE=0.4806;ExAC_OTH=0.4581;ExAC_SAS=0.4268;CLNALLELEID=40460;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.06;MutationAssessor_pred=L;FATHMM_score=-0.65;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_pred=D;VEST3_score=0.56;CADD_raw=6.536;CADD_phred=31;DANN_score=0.998;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.869;SiPhy_29way_logOdds=19.331;GDI_full_10282015=.;dpsi_max_tissue=-0.3760;dpsi_zscore=-0.954;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4337;gnomAD_exome_AFR=0.2546;gnomAD_exome_AMR=0.4170;gnomAD_exome_ASJ=0.3310;gnomAD_exome_EAS=0.2184;gnomAD_exome_FIN=0.5262;gnomAD_exome_NFE=0.4879;gnomAD_exome_OTH=0.4327;gnomAD_exome_SAS=0.4309;gnomAD_genome_ALL=0.4160;gnomAD_genome_AFR=0.2562;gnomAD_genome_AMR=0.4165;gnomAD_genome_ASJ=0.3433;gnomAD_genome_EAS=0.2112;gnomAD_genome_FIN=0.5249;gnomAD_genome_NFE=0.5020;gnomAD_genome_OTH=0.4928;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-633.605,0,-834.334:925:469:441:12166:13716 0/1:-957.147,0,-1108.22:1294:649:620:17517:18476 0/1:-829.491,0,-752.979:981:456:504:14339:13662 . . 0/1:-961.264,0,-1209.98:1335:681:638:18440:20165 . 0/1:-913.643,0,-1071.08:1234:620:591:16672:17819 . 0/1:-857.231,0,-913.821:1099:533:550:15275:15559 . . 0/1:-635.261,0,-887.37:900:469:423:11637:14017 . . . 1/1:-1418.12,-178.401,0:699:24:663:18998:368 1/1:-4550.61,-526.211,0:2244:100:2111:60707:1908 1/1:-2149.71,-244.104,0:1079:53:1008:28834:909 . . 0/1:-846.176,0,-1006.3:1159:581:552:15708:16811 1/1:-1100.43,-131.458,0:579:23:547:15814:469 . 1/1:-2538.19,-288.283,0:1271:59:1191:34121:1146 . 1/1:-2044.86,-239.436,0:1068:52:997:28359:1024 . 1/1:-1317.07,-165.649,0:699:30:657:18328:595 0/1:-479.893,0,-702.091:712:387:321:9006:11268 . . . 0/1:-674.927,0,-624.388:840:392:423:11740:11231 0/1:-869.04,0,-991.909:1127:541:564:15931:16177 0/1:-862.653,0,-1114.86:1199:616:566:15917:18297 0/1:-747.258,0,-836.463:944:463:459:13027:13732 1/1:-1924.85,-227.655,0:958:36:901:25650:720 . 0/1:-448.704,0,-554.775:602:311:281:7960:8952 0/1:-949.359,0,-1090.37:1224:600:612:16947:17809 0/1:-719.325,0,-921.109:1002:520:467:13184:15214 0/1:-853.123,0,-940.587:1069:529:526:14977:15682 1/1:-2038.4,-232.467,0:1026:49:956:27503:906 0/1:-1089.27,0,-1109.85:1350:643:686:19576:18592 . 1/1:-1979.47,-219.865,0:996:54:929:27029:968 0/1:-515.612,0,-511.321:609:290:309:8740:8730 0/1:-706.513,0,-693.845:840:406:421:12292:11653 . . 0/1:-522.186,0,-698.138:891:466:405:10646:12808 0/1:-1007.13,0,-1275.03:1373:710:645:18426:20635 . 1/1:-1276.72,-149.947,0:699:39:650:18251:725 1/1:-1698.86,-199.962,0:847:37:801:22872:685 . 1/1:-1062.05,-134.896,0:585:29:543:14969:462 0/1:-651.781,0,-582.234:746:345:388:10957:9989 . 0/1:-502.467,0,-552.461:658:317:330:9218:9444 0/1:-1092.19,0,-1085.06:1324:622:686:19429:18236 . . . 0/1:-993.457,0,-972.816:1203:563:619:17388:16590 . 1/1:-1972.41,-220.356,0:1022:54:957:27350:1082 0/1:-596.799,0,-958.799:964:523:428:11933:15537 0/1:-903.688,0,-1043.51:1226:605:597:16714:17533 . 0/1:-1053.14,0,-1208.3:1347:686:646:18326:20116 . . 0/1:-696.37,0,-663.173:850:393:445:12274:11378 1/1:-2620.52,-309.348,0:1335:62:1256:35482:1196 . . . 0/1:-510.853,0,-645.351:734:369:350:9774:10743 0/1:-884.859,0,-858.757:1122:526:575:15902:14983 0/1:-941.49,0,-1035.16:1239:602:619:17209:17528 . 1/1:-1755.27,-201.78,0:928:46:863:24389:875 1/1:-1759.13,-180.637,0:942:56:860:24706:1211 0/1:-775.04,0,-856.679:1000:481:497:13855:14037 0/1:-576.565,0,-629.221:741:363:359:10196:10588 0/1:-838.334,0,-897.055:1073:517:537:14855:15096 0/1:-491.336,0,-483.003:566:272:291:8300:7966 . 0/1:-1078.11,0,-1200.83:1397:683:685:19758:19967 0/1:-601.283,0,-882.33:914:495:404:11545:14339 0/1:-971.116,0,-1287.35:1411:748:646:17904:21156 0/1:-841.811,0,-1036.06:1160:596:545:15187:17010 0/1:-807.324,0,-1196.19:1245:674:555:15621:19470 . . . . 0/1:-768.428,0,-798.165:799:406:391:12062:12154:406,391 0/1:-1038.67,0,-1005.64:1083:508:564:16527:15471:508,564 1/1:-3239.65,-324.005,0:1406:57:1340:40003:1128:57,1340 0/1:-1111.23,0,-1219.63:1211:607:596:17781:18379:607,596 0/1:-1164.11,0,-1250.72:1272:637:624:18523:19075:637,624 0/1:-1099.27,0,-1263.28:1268:642:613:18003:19199:642,613 . 0/1:-1262.37,0,-1216.46:1305:629:665:19943:19103:629,665 0/1:-927.656,0,-975.514:1001:490:501:14800:14785:490,501 1/1:-2644.17,-254.985,0:1161:52:1096:33043:1095:52,1096 0/1:-1084.01,0,-1098.57:1129:546:575:17253:16702:546,575 0/1:-1231.15,0,-1154.53:1259:583:666:19604:17781:583,666 0/1:-1051.55,0,-1124.96:1167:583:575:17011:17136:583,575 0/1:-1139.56,0,-1442.63:1341:712:625:18771:21490:712,625 . . 0/1:-1011.73,0,-1036.29:1070:523:538:16060:15780:523,538 chr10 69959345 . GCTGGGAC GC 4150.80 . AB=0.466248;ABP=9.31337;AC=94;AF=0.5;AN=148;AO=297;CIGAR=1M6D1M;DP=52572;DPB=410.625;DPRA=0;EPP=216.802;EPPR=80.8889;GTI=0;LEN=6;MEANALT=54;MQM=23.4276;MQMR=38.9576;NS=1;NUMALT=1;ODDS=431.746;PAIRED=0.959596;PAIREDR=0.919492;PAO=6.5;PQA=212;PQR=417;PRO=14.5;QA=5481;QR=6880;RO=236;RPL=208;RPP=106.546;RPPR=183.353;RPR=89;RUN=1;SAF=155;SAP=4.24592;SAR=142;SF=0,1;SRF=118;SRP=3.0103;SRR=118;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-229.189,0,-435.595:637:236:297:5481:6880 0/1:-278.917,0,-619.393:868:327:384:6891:9781 0/1:-300.09,0,-462.011:681:248:326:6182:7307 . . 0/1:-412.704,0,-678.021:1031:372:496:9321:11092 . 0/1:-373.047,0,-486.557:839:288:425:7894:8506 . 0/1:-265.967,0,-587.712:785:309:335:6221:9278 . . 0/1:-216.86,0,-587.403:694:307:279:5228:9073 . . . 1/1:-620.964,-141.359,0:500:6:465:8814:173 1/1:-1831.27,-384.661,0:1414:15:1299:24567:434 1/1:-1007.17,-208.905,0:731:5:688:13523:148 . . 0/1:-376.593,0,-542.491:880:312:444:8308:9043 1/1:-517.274,-112.29,0:431:4:401:7280:127 . 1/1:-1122.1,-245.398,0:869:5:810:15187:159 . 1/1:-1094.34,-228.454,0:837:5:779:14688:167 . 1/1:-669.05,-156.377,0:553:4:517:9240:104 0/1:-222.022,0,-402.616:511:212:244:4902:6251 . . . 0/1:-250.171,0,-327.893:533:187:272:5058:5515 0/1:-282.871,0,-561.496:779:294:352:6784:8697 0/1:-342.626,0,-454.866:795:266:400:7287:7728 0/1:-304.296,0,-413.911:650:237:318:6321:6906 1/1:-931.713,-199.418,0:693:4:658:12196:106 . 0/1:-185.096,0,-314.061:453:167:204:3836:5005 0/1:-272.628,0,-703.098:841:355:351:6585:10639 0/1:-230.089,0,-424.511:659:233:283:5120:6956 0/1:-308.163,0,-478.206:747:268:364:6745:7821 1/1:-905.895,-178.735,0:715:13:663:12362:385 0/1:-320.29,0,-620.583:846:339:393:7264:9967 . 1/1:-921.039,-200.862,0:698:3:654:12415:87 0/1:-210.792,0,-277.886:432:152:230:4260:4507 0/1:-262.895,0,-355.503:567:201:288:5720:5976 . . 0/1:-227.816,0,-423.802:648:241:295:5398:6952 0/1:-345.098,0,-695.411:900:361:407:7847:10784 . 1/1:-569.29,-143.29,0:480:0:444:8116:0 1/1:-841.259,-186.211,0:659:3:620:11539:89 . 1/1:-399.872,-92.2227,0:343:3:310:5710:83 0/1:-191.123,0,-377.385:505:201:221:4241:6030 . 0/1:-117.834,0,-248.451:369:138:169:3044:4064 0/1:-408,0,-606.888:942:341:473:8909:9954 . . . 0/1:-335.191,0,-504.094:774:279:380:7172:8392 . 1/1:-917.422,-198.461,0:697:3:649:12226:86 0/1:-224.166,0,-425.463:633:236:293:5234:6903 0/1:-277.449,0,-512.496:730:275:341:6357:8041 . 0/1:-365.251,0,-666.254:906:348:423:8118:10349 . . 0/1:-253.999,0,-356.097:558:198:273:5289:5855 1/1:-1089.39,-238.321,0:898:8:820:15028:223 . . . 0/1:-143.786,0,-291.836:415:161:203:3764:4731 0/1:-223.161,0,-570.721:754:300:330:5746:8811 0/1:-305.189,0,-565.961:827:307:373:6957:9068 . 1/1:-800.654,-147.259,0:658:17:599:11128:529 1/1:-741.11,-157.005,0:623:8:571:10349:236 0/1:-210.736,0,-450.828:591:237:280:5277:7088 0/1:-210.616,0,-298.421:510:176:265:4776:5208 0/1:-277.412,0,-525.434:752:283:349:6299:8369 0/1:-138.674,0,-305.039:372:160:173:3214:4761 . 0/1:-413.968,0,-788.819:1078:419:518:9288:12468 0/1:-211.815,0,-602.125:717:313:285:5470:9276 0/1:-346.768,0,-686.533:928:368:402:7678:10844 0/1:-322.368,0,-470.211:773:272:368:7014:8044 0/1:-302.76,0,-556.948:769:296:354:6656:8739 . . . . 0/1:-217.49,0,-431.597:436:201:201:4395:6318:201,201 0/1:-356.633,0,-547.569:641:270:325:6904:8316:270,325 1/1:-1338.12,-227.189,0:855:8:818:17613:248:8,818 0/1:-424.783,0,-551.988:680:270:357:7877:8429:270,357 0/1:-473.126,0,-720.227:822:352:397:9013:10904:352,397 0/1:-491.73,0,-661.482:820:322:443:9684:10112:322,443 . 0/1:-493.132,0,-697.075:863:346:444:9596:10740:346,444 0/1:-291.07,0,-659.083:655:309:287:5973:9545:309,287 1/1:-1102.15,-171.776,0:727:14:684:14712:431:14,684 0/1:-375.648,0,-594.813:666:284:331:7302:8884:284,331 0/1:-485.677,0,-688.712:879:341:462:9624:10569:341,462 0/1:-434.33,0,-596.965:760:302:387:8413:9244:302,387 0/1:-462.248,0,-760.499:880:369:423:9238:11377:369,423 1/1:-989.253,-159.745,0:652:10:613:13263:313:10,613 . 0/1:-415.34,0,-607.699:758:301:388:8221:9307:301,388 chr10 75830501 . C T 10027.00 . AB=0.486974;ABP=4.48116;AC=1;AF=0.5;AN=2;AO=486;CIGAR=1X;DP=998;DPB=998;DPRA=0;EPP=9.46216;EPPR=7.73033;GTI=0;LEN=1;MEANALT=3;MQM=40.6728;MQMR=40.4212;NS=1;NUMALT=1;ODDS=2308.8;PAIRED=0.979424;PAIREDR=0.964072;PAO=0;PQA=0;PQR=0;PRO=0;QA=15106;QR=15985;RO=501;RPL=254;RPP=5.17284;RPPR=8.31979;RPR=232;RUN=1;SAF=290;SAP=42.49;SAR=196;SF=1;SRF=316;SRP=77.3908;SRR=185;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=VCL:NM_003373:exon3:c.C313T:p.R105X,VCL:NM_014000:exon3:c.C313T:p.R105X;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517239;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.239e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=54772;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=12.748;CADD_phred=40;DANN_score=0.998;fathmm-MKL_coding_score=0.862;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.757;integrated_confidence_value=0;GERP++_RS=5.64;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.779;GDI_full_10282015=.;dpsi_max_tissue=-65.4165;dpsi_zscore=-3.681;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1410941#"Cardiomyopathy_dilated";gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1015.49,0,-1078.28:998:501:486:15106:15985:501,486 . . chr10 75849851 . G A 6457.85 . AB=0.507126;ABP=3.38167;AC=1;AF=0.5;AN=2;AO=427;CIGAR=1X;DP=842;DPB=842;DPRA=0;EPP=115.912;EPPR=113.128;GTI=0;LEN=1;MEANALT=3;MQM=37.4028;MQMR=37.9606;NS=1;NUMALT=1;ODDS=1314.97;PAIRED=0.964871;PAIREDR=0.96063;PAO=0;PQA=0;PQR=0;PRO=0;QA=10903;QR=9890;RO=381;RPL=189;RPP=15.2204;RPPR=8.48743;RPR=238;RUN=1;SAF=246;SAP=24.4962;SAR=181;SF=0;SRF=223;SRP=27.0903;SRR=158;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=VCL:NM_003373:exon10:c.G1247A:p.R416Q,VCL:NM_014000:exon10:c.G1247A:p.R416Q;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs758811315;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=1.648e-05;ExAC_AFR=0;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=397805;CLNDN=Dilated_cardiomyopathy_1W;CLNDISDB=MedGen:C1969639,OMIM:611407;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.306;SIFT_pred=T;Polyphen2_HDIV_score=0.74;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.24;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.875;MutationAssessor_pred=L;FATHMM_score=1.15;FATHMM_pred=T;PROVEAN_score=-1.0;PROVEAN_pred=N;VEST3_score=0.492;CADD_raw=3.794;CADD_phred=23.4;DANN_score=0.999;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.433;MetaSVM_pred=T;MetaLR_score=0.310;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.54;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.827;GDI_full_10282015=.;dpsi_max_tissue=-0.5169;dpsi_zscore=-1.108;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.656e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.48e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.661e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-669.021,0,-593.568:842:381:427:10903:9890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 75849921 . T C 9660.51 . AB=0.455645;ABP=19.9618;AC=3;AF=0.5;AN=6;AO=452;CIGAR=1X;DP=3386;DPB=992;DPRA=0;EPP=52.9926;EPPR=13.134;GTI=0;LEN=1;MEANALT=3;MQM=38.7544;MQMR=39.668;NS=1;NUMALT=1;ODDS=1834.09;PAIRED=0.984513;PAIREDR=0.98835;PAO=0;PQA=0;PQR=0;PRO=0;QA=13239;QR=15861;RO=515;RPL=308;RPP=132.223;RPPR=190.731;RPR=144;RUN=1;SAF=179;SAP=45.4597;SAR=273;SF=0;SRF=217;SRP=30.6744;SRR=298;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon10:c.T1317C:p.S439S,VCL:NM_014000:exon10:c.T1317C:p.S439S;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0056;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0056;1000g2015aug_all=0.00199681;avsnp147=rs71579355;Kaviar_AF=0.0044825;Kaviar_AC=693;Kaviar_AN=154602;ExAC_ALL=0.0042;ExAC_AFR=0.0009;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0062;ExAC_OTH=0.0044;ExAC_SAS=0.0016;CLNALLELEID=54743;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0720;dpsi_zscore=0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0057;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0062;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . 0/1:-827.781,0,-1062.93:992:515:452:13239:15861 . . . . . . . . . . . . . . . . . . . . 0/1:-1229.98,0,-1175.91:1289:599:658:18876:18083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-955.182,0,-1108.27:1105:550:517:14802:16654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 75854083 . C T 5696.34 . AB=0.416871;ABP=76.2979;AC=6;AF=0.5;AN=12;AO=509;CIGAR=1X;DP=4915;DPB=1221;DPRA=0;EPP=11.6493;EPPR=42.4134;GTI=0;LEN=1;MEANALT=3;MQM=35.8271;MQMR=37.8837;NS=1;NUMALT=1;ODDS=1806.57;PAIRED=0.935167;PAIREDR=0.905744;PAO=0;PQA=0;PQR=0;PRO=0;QA=14423;QR=20841;RO=679;RPL=240;RPP=6.59814;RPPR=8.92348;RPR=269;RUN=1;SAF=252;SAP=3.11695;SAR=257;SF=0;SRF=316;SRP=10.0748;SRR=363;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon11:c.C1407T:p.A469A,VCL:NM_014000:exon11:c.C1407T:p.A469A;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0062;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0062;1000g2015aug_all=0.0696885;avsnp147=rs2229507;Kaviar_AF=0.0221795;Kaviar_AC=3429;Kaviar_AN=154602;ExAC_ALL=0.0230;ExAC_AFR=0.2104;ExAC_AMR=0.0100;ExAC_EAS=0.0020;ExAC_FIN=0.0005;ExAC_NFE=0.0060;ExAC_OTH=0.0189;ExAC_SAS=0.0032;CLNALLELEID=54745;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0276;dpsi_zscore=0.183;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0189;gnomAD_exome_AFR=0.2152;gnomAD_exome_AMR=0.0116;gnomAD_exome_ASJ=0.0201;gnomAD_exome_EAS=0.0018;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0052;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0596;gnomAD_genome_AFR=0.2017;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0043;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-799.102,0,-1359.37:1221:679:509:14423:20841 . . . . . . . . . . . . . . . . . . . . . 0/1:-612.801,0,-930.016:847:455:371:10739:14177 . . . . . . . . . . . . . . . . . 0/1:-392.454,0,-753.768:639:373:248:7079:11371 . . . . 0/1:-427.239,0,-648.438:627:341:268:7612:10463 . . . . . . . . . . . 0/1:-837.86,0,-912.983:958:482:458:13652:14339 0/1:-418.286,0,-533.815:623:316:287:7689:9120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 75854182 . G A 2540.23 . AB=0.426791;ABP=32.8968;AC=6;AF=0.5;AN=12;AO=274;CIGAR=1X;DP=2477;DPB=642;DPRA=0;EPP=48.7856;EPPR=63.301;GTI=0;LEN=1;MEANALT=3;MQM=35.7883;MQMR=37.5694;NS=1;NUMALT=1;ODDS=948.036;PAIRED=0.963504;PAIREDR=0.895184;PAO=0;PQA=0;PQR=0;PRO=0;QA=8274;QR=11153;RO=353;RPL=237;RPP=320.014;RPPR=560.341;RPR=37;RUN=1;SAF=62;SAP=181.325;SAR=212;SF=0;SRF=101;SRP=143.27;SRR=252;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon11:c.G1506A:p.R502R,VCL:NM_014000:exon11:c.G1506A:p.R502R;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0730;esp6500siv2_ea=0.0062;esp6500siv2_all=0.0730;esp6500siv2_ea=0.0062;1000g2015aug_all=0.0694888;avsnp147=rs2228373;Kaviar_AF=0.0223606;Kaviar_AC=3457;Kaviar_AN=154602;ExAC_ALL=0.0236;ExAC_AFR=0.2155;ExAC_AMR=0.0106;ExAC_EAS=0.0020;ExAC_FIN=0.0005;ExAC_NFE=0.0062;ExAC_OTH=0.0195;ExAC_SAS=0.0033;CLNALLELEID=54746;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0833;dpsi_zscore=0.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0189;gnomAD_exome_AFR=0.2149;gnomAD_exome_AMR=0.0117;gnomAD_exome_ASJ=0.0200;gnomAD_exome_EAS=0.0018;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0051;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0597;gnomAD_genome_AFR=0.2017;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0043;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-479.946,0,-728.135:642:353:274:8274:11153 . . . . . . . . . . . . . . . . . . . . . 0/1:-265.713,0,-467.648:387:222:155:4830:6994 . . . . . . . . . . . . . . . . . 0/1:-225.32,0,-380.471:324:180:135:3984:5779 . . . . 0/1:-264.901,0,-366.887:343:180:157:4663:5740 . . . . . . . . . . . 0/1:-420.352,0,-470.716:477:235:228:6966:7351 0/1:-194.277,0,-313.751:304:169:122:3675:5085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 75855541 . C T 3860.87 . AB=0.439791;ABP=21.0528;AC=1;AF=0.5;AN=2;AO=252;CIGAR=1X;DP=573;DPB=573;DPRA=0;EPP=5.21624;EPPR=3.59079;GTI=0;LEN=1;MEANALT=3;MQM=37.1349;MQMR=37.3036;NS=1;NUMALT=1;ODDS=888.998;PAIRED=0.952381;PAIREDR=0.90099;PAO=0;PQA=0;PQR=0;PRO=0;QA=6841;QR=9309;RO=303;RPL=147;RPP=18.2106;RPPR=59.7767;RPR=105;RUN=1;SAF=109;SAP=12.9715;SAR=143;SF=0;SRF=132;SRP=13.9107;SRR=171;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon12:c.C1671T:p.D557D,VCL:NM_014000:exon12:c.C1671T:p.D557D;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;1000g2015aug_all=0.00319489;avsnp147=rs137877092;Kaviar_AF=0.0044178;Kaviar_AC=683;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=9.638e-05;ExAC_AMR=0.0010;ExAC_EAS=0.0002;ExAC_FIN=0.0159;ExAC_NFE=0.0028;ExAC_OTH=0.0077;ExAC_SAS=0.0186;CLNALLELEID=54753;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4109;dpsi_zscore=-0.996;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0156;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0178;gnomAD_genome_ALL=0.0034;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0177;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-397.208,0,-593.258:573:303:252:6841:9309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 75863620 . C G 7196.96 . AB=0.457537;ABP=17.7634;AC=1;AF=0.5;AN=2;AO=431;CIGAR=1X;DP=942;DPB=942;DPRA=0;EPP=111.881;EPPR=52.352;GTI=0;LEN=1;MEANALT=3;MQM=38.1903;MQMR=39.3193;NS=1;NUMALT=1;ODDS=1657.16;PAIRED=0.967517;PAIREDR=0.976891;PAO=0;PQA=0;PQR=0;PRO=0;QA=11943;QR=13991;RO=476;RPL=210;RPP=3.61992;RPPR=11.0575;RPR=221;RUN=1;SAF=260;SAP=42.918;SAR=171;SF=0;SRF=307;SRP=89.8874;SRR=169;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=VCL:NM_003373:exon15:c.C2065G:p.Q689E,VCL:NM_014000:exon15:c.C2065G:p.Q689E;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.843;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.894;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=1.22;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.645;CADD_raw=3.464;CADD_phred=23.0;DANN_score=0.964;fathmm-MKL_coding_score=0.721;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.861;MetaSVM_pred=T;MetaLR_score=0.200;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=5.89;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.253;GDI_full_10282015=.;dpsi_max_tissue=0.0153;dpsi_zscore=0.105;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-743.157,0,-921.437:942:476:431:11943:13991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 75865065 . G A 14334.35 . AB=0.492044;ABP=3.45948;AC=147;AF=0.5;AN=190;AO=402;CIGAR=1X;DP=81519;DPB=817;DPRA=0;EPP=6.12166;EPPR=13.2267;GTI=0;LEN=1;MEANALT=3;MQM=37.9502;MQMR=36.7939;NS=1;NUMALT=1;ODDS=1592.08;PAIRED=0.965174;PAIREDR=0.936387;PAO=0;PQA=0;PQR=0;PRO=0;QA=11540;QR=11671;RO=393;RPL=245;RPP=44.8409;RPPR=41.0746;RPR=157;RUN=1;SAF=106;SAP=198.011;SAR=296;SF=0,1;SRF=117;SRP=142.697;SRR=276;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.4387;esp6500siv2_ea=0.5895;esp6500siv2_all=0.4387;esp6500siv2_ea=0.5895;1000g2015aug_all=0.324681;avsnp147=rs767809;Kaviar_AF=0.479573;Kaviar_AC=74143;Kaviar_AN=154602;ExAC_ALL=0.4761;ExAC_AFR=0.1261;ExAC_AMR=0.3736;ExAC_EAS=0.2618;ExAC_FIN=0.5442;ExAC_NFE=0.5852;ExAC_OTH=0.5310;ExAC_SAS=0.4094;CLNALLELEID=54761;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0205;dpsi_zscore=-0.107;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4821;gnomAD_exome_AFR=0.1210;gnomAD_exome_AMR=0.3950;gnomAD_exome_ASJ=0.6871;gnomAD_exome_EAS=0.2550;gnomAD_exome_FIN=0.5476;gnomAD_exome_NFE=0.5798;gnomAD_exome_OTH=0.5250;gnomAD_exome_SAS=0.4094;gnomAD_genome_ALL=0.4299;gnomAD_genome_AFR=0.1369;gnomAD_genome_AMR=0.4511;gnomAD_genome_ASJ=0.6967;gnomAD_genome_EAS=0.2801;gnomAD_genome_FIN=0.5312;gnomAD_genome_NFE=0.5824;gnomAD_genome_OTH=0.4878;Whole_Blood=Whole_Blood::0.468835::0.275871;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-736.438,0,-717.672:817:393:402:11540:11671 . 1/1:-2161.36,-256.695,0:926:7:898:25982:178 1/1:-1303.99,-159.365,0:560:3:545:15520:64 1/1:-1944.49,-238.622,0:848:5:820:23274:132 . 0/1:-746.772,0,-640.492:778:357:407:11679:10489 1/1:-2259.47,-248.754,0:1000:23:964:27412:667 0/1:-711.899,0,-725.314:795:385:393:11295:11556 1/1:-2321.77,-286.041,0:1024:6:985:28053:138 1/1:-1882.86,-226.969,0:815:6:791:22668:146 . 0/1:-690.857,0,-756.447:792:385:394:11111:11759 1/1:-1750.02,-214.729,0:799:7:770:21541:216 1/1:-1551.09,-184.116,0:660:4:645:19073:140 . 0/1:-597.888,0,-672.313:732:352:359:9890:10686 1/1:-3809.88,-463.969,0:1673:12:1619:45950:311 1/1:-2104.99,-250.007,0:895:7:869:24988:155 0/1:-584.754,0,-678.101:689:334:337:9412:10454 0/1:-583.793,0,-698.339:710:354:337:9396:10888 1/1:-2350.05,-278.712,0:993:7:969:28169:178 0/1:-564.5,0,-447.051:581:245:318:9049:7542 1/1:-2462.5,-306.843,0:1069:7:1042:29574:111 1/1:-2306.79,-283.637,0:1008:6:974:27646:135 0/1:-494.545,0,-695.722:676:366:297:8424:11015 1/1:-2093.16,-245.812,0:915:9:882:25238:275 . 0/1:-580.843,0,-627.952:689:331:340:9467:10075 1/1:-1575.48,-177.358,0:682:10:653:18823:251 1/1:-1664.28,-179.109,0:720:14:688:20210:362 0/1:-966.374,0,-1199.18:1154:601:531:15431:18228 1/1:-2306.49,-275.008,0:1013:9:973:27665:232 0/1:-779.797,0,-649.542:801:357:431:12367:10545 0/1:-914.543,0,-1011.69:1057:530:507:14550:15967 0/1:-803.494,0,-923.219:953:474:460:12988:14491 1/1:-2061.62,-253.523,0:899:5:871:24726:124 0/1:-828.186,0,-985.675:962:501:445:13296:15056 0/1:-715.661,0,-877.059:868:449:406:11585:13734 0/1:-468.606,0,-630.388:621:322:279:7742:9589 0/1:-932.777,0,-1042.54:1062:531:514:14947:16119 . 0/1:-728.081,0,-873.959:859:442:403:11806:13138 . . 0/1:-717.329,0,-833.818:848:416:411:11624:12789 0/1:-769.364,0,-732.777:833:393:422:12090:11539 1/1:-1115.9,-132.349,0:486:4:464:13556:96 0/1:-497.945,0,-608.222:624:314:297:8162:9406 . 1/1:-2270.62,-280.191,0:987:4:960:27542:113 1/1:-2012.07,-251.967,0:911:8:877:24568:189 1/1:-3032.79,-356.431,0:1275:10:1240:36367:255 0/1:-872.537,0,-878.392:967:448:497:14022:13683 1/1:-1418.04,-179.685,0:632:3:613:17206:77 . 1/1:-2235.53,-271.239,0:976:5:944:26775:163 1/1:-1230.27,-152.34,0:572:6:545:15398:160 1/1:-1553.15,-177.571,0:694:11:666:18694:295 0/1:-719.557,0,-686.684:795:372:407:11443:11014 0/1:-459.754,0,-502.9:538:271:259:7482:8019 0/1:-899.441,0,-1179.05:1144:600:527:14920:17880 0/1:-782.18,0,-608.911:757:332:412:11855:9876 0/1:-586.148,0,-576.276:645:306:321:9407:9199 1/1:-2545.9,-315.304,0:1133:7:1095:30877:209 0/1:-725.308,0,-798.226:844:411:408:11651:12356 1/1:-1157.31,-136.603,0:522:9:503:14179:209 1/1:-2087.93,-245.445,0:887:9:861:25125:243 0/1:-639.837,0,-595.28:678:317:345:10061:9528 . 0/1:-680.881,0,-773.24:795:385:394:10882:11973 . 0/1:-860.467,0,-934.611:993:485:489:13651:14642 . 1/1:-1839.8,-224.794,0:803:5:782:22165:146 1/1:-2211.68,-257.598,0:973:13:943:26939:384 1/1:-2040.39,-232.427,0:896:15:858:24655:384 1/1:-2192.4,-269.135,0:978:7:945:26592:196 1/1:-1216.66,-151.784,0:536:3:517:14500:60 0/1:-431.121,0,-575.624:560:308:238:7120:9152 . . 0/1:-907.515,0,-1009.1:1054:533:503:14580:15823 1/1:-2002.18,-237.468,0:889:9:857:24245:263 0/1:-692.314,0,-657.161:729:349:364:10597:10449 1/1:-1856.91,-220.01,0:793:7:776:22176:191 1/1:-1527.66,-182.158,0:676:8:648:18660:194 1/1:-2203.74,-248.929,0:955:13:923:26583:390 . 0/1:-717.721,0,-707.938:791:370:405:11407:11098 . 1/1:-1862.29,-223.052,0:812:7:787:22333:180 1/1:-2866.94,-347.237,0:1224:4:1185:34204:122 1/1:-2022.2,-250.64,0:889:3:860:24466:104 1/1:-2120,-259.299,0:930:7:901:25630:158 . 0/1:-865.289,0,-918.145:883:435:432:13203:13625:435,432 1/1:-2522.73,-276.701,0:942:2:931:29211:48:2,931 1/1:-2775.32,-291.285,0:1063:10:1040:32258:293:10,1040 1/1:-1404.5,-152.845,0:539:3:529:16392:82:3,529 0/1:-758.533,0,-858.863:770:397:363:11412:12490:397,363 0/1:-1154.5,0,-994.569:1006:468:532:16794:14868:468,532 . 0/1:-1152.79,0,-958.115:1009:461:537:16755:14463:461,537 0/1:-854.008,0,-938.004:856:433:413:12881:13636:433,413 0/1:-1060.5,0,-928.601:961:445:502:15635:14029:445,502 1/1:-2607.02,-273.278,0:1000:10:981:30385:303:10,981 0/1:-769.995,0,-890.469:802:419:374:11554:13068:419,374 . 1/1:-2199.77,-245.61,0:856:3:842:25669:99:3,842 1/1:-2643.28,-273.179,0:1014:11:996:30890:367:11,996 1/1:-2347.09,-251.008,0:904:8:890:27375:227:8,890 1/1:-2639.52,-263.094,0:1018:14:998:30939:479:14,998 1/1:-2425.63,-271.228,0:912:0:901:27976:0:0,901 1/1:-2337.23,-254.842,0:865:1:855:26886:32:1,855 . chr10 75871735 . C G 30218.09 . AB=0.423242;ABP=74.348;AC=194;AF=0.5;AN=222;AO=590;CIGAR=1X;DP=181900;DPB=1394;DPRA=0;EPP=8.32489;EPPR=72.0743;GTI=0;LEN=1;MEANALT=3;MQM=35.5153;MQMR=36.0619;NS=1;NUMALT=1;ODDS=2074.72;PAIRED=0.947458;PAIREDR=0.92;PAO=0;PQA=0;PQR=0;PRO=0;QA=16724;QR=23573;RO=775;RPL=205;RPP=122.257;RPPR=230.595;RPR=385;RUN=1;SAF=391;SAP=138.687;SAR=199;SF=0,1;SRF=468;SRP=75.6383;SRR=307;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_014000:exon19:c.C2814G:p.G938G;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.7624;esp6500siv2_ea=0.7521;esp6500siv2_all=0.7624;esp6500siv2_ea=0.7521;1000g2015aug_all=0.623003;avsnp147=rs2131956;Kaviar_AF=0.656072;Kaviar_AC=101430;Kaviar_AN=154602;ExAC_ALL=0.6734;ExAC_AFR=0.7837;ExAC_AMR=0.5684;ExAC_EAS=0.3769;ExAC_FIN=0.6739;ExAC_NFE=0.7428;ExAC_OTH=0.7037;ExAC_SAS=0.5490;CLNALLELEID=54766;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2054;dpsi_zscore=-0.697;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6698;gnomAD_exome_AFR=0.7803;gnomAD_exome_AMR=0.5817;gnomAD_exome_ASJ=0.8593;gnomAD_exome_EAS=0.3696;gnomAD_exome_FIN=0.6733;gnomAD_exome_NFE=0.7412;gnomAD_exome_OTH=0.7083;gnomAD_exome_SAS=0.5500;gnomAD_genome_ALL=0.7277;gnomAD_genome_AFR=0.7918;gnomAD_genome_AMR=0.6447;gnomAD_genome_ASJ=0.8676;gnomAD_genome_EAS=0.3861;gnomAD_genome_FIN=0.6712;gnomAD_genome_NFE=0.7447;gnomAD_genome_OTH=0.6857;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-940.336,0,-1486.05:1394:775:590:16724:23573 0/1:-1551.89,0,-1663.78:1868:909:930:26084:27556 1/1:-3386.59,-433.571,0:1567:23:1518:42936:472 1/1:-2255.18,-294.888,0:1038:8:1011:28319:134 1/1:-3539.15,-451.842,0:1707:33:1636:45546:667 1/1:-4701.25,-611.79,0:2149:14:2086:58300:253 0/1:-1055.31,0,-1465.47:1468:773:669:18521:23495 1/1:-4049.77,-525.976,0:1927:32:1853:51446:532 0/1:-1227.84,0,-1232.06:1426:656:740:20476:20038 1/1:-3645.88,-470.516,0:1719:23:1656:46673:444 1/1:-3317.76,-432.564,0:1536:18:1478:41343:252 1/1:-3335.49,-425.891,0:1510:17:1470:41649:282 1/1:-3298.39,-415.241,0:1544:21:1483:41364:454 1/1:-2566.04,-339.296,0:1254:22:1201:32912:364 1/1:-2708.96,-361.315,0:1262:10:1229:33924:162 0/1:-1975.77,0,-2307.6:2448:1213:1195:33682:37133 0/1:-929.917,0,-979.848:1194:586:592:16329:17555 1/1:-7969.38,-1016.58,0:3590:33:3495:99015:535 1/1:-3468.22,-447.714,0:1604:18:1558:43777:309 1/1:-2326.12,-302.867,0:1120:20:1077:30183:324 1/1:-2428.53,-315.253,0:1102:7:1067:29899:111 1/1:-4088.92,-511.492,0:1917:32:1843:51480:628 1/1:-1776.78,-234.923,0:882:16:849:23416:360 1/1:-4337.1,-562.165,0:1996:23:1937:54229:380 1/1:-3814.84,-485.139,0:1770:22:1706:47506:457 1/1:-2417.9,-334.825,0:1202:13:1158:31281:222 1/1:-4005.25,-517.02,0:1815:15:1767:50099:239 1/1:-3707.25,-480.953,0:1709:16:1659:46793:311 0/1:-970.703,0,-1117.79:1254:620:617:17166:19045 1/1:-2411.88,-309.923,0:1093:9:1064:29871:148 1/1:-3147.71,-413.178,0:1443:11:1406:39651:176 0/1:-1892.55,0,-1661.61:2046:925:1085:30426:28233 1/1:-3467.57,-443.071,0:1607:24:1549:43464:380 1/1:-3180.85,-410.644,0:1516:23:1466:40191:455 1/1:-3827.43,-464.196,0:1755:32:1682:47867:664 1/1:-3692.13,-469.235,0:1723:27:1660:46660:516 1/1:-3388.61,-434.915,0:1574:20:1523:42576:382 0/1:-1276.43,0,-1559.38:1588:809:757:21724:24818 1/1:-3303.6,-433.258,0:1552:17:1493:41614:289 0/1:-1056.13,0,-948.759:1146:522:607:17201:15795 0/1:-1585.7,0,-2106.42:2104:1084:988:27414:33522 0/1:-1163.7,0,-1313.39:1461:714:718:20084:21592 0/1:-1240.91,0,-1407.73:1583:765:772:21412:23113 0/1:-1217.18,0,-1517.82:1587:794:761:21244:24514 . 1/1:-3425.9,-438.261,0:1595:24:1534:42856:409 0/1:-1308.37,0,-1559.72:1676:828:808:22368:25581 1/1:-1913.74,-229.132,0:888:16:855:23930:403 0/1:-1112.51,0,-1300.2:1383:688:671:19130:21214 0/1:-1587.21,0,-2074.45:2058:1069:957:27679:33245 1/1:-4323.07,-531.091,0:1956:29:1884:54131:566 1/1:-2946.4,-397.702,0:1454:22:1393:38245:388 1/1:-4420,-547.682,0:2017:29:1947:55635:594 1/1:-3990.05,-510.824,0:1831:19:1771:49908:349 1/1:-2211.1,-305.779,0:1085:10:1050:28664:158 . 1/1:-3735.65,-464.575,0:1710:26:1654:46876:525 1/1:-2055.75,-278.716,0:997:12:969:26590:219 1/1:-2448.93,-298.953,0:1153:25:1105:31320:535 1/1:-3560.86,-429.605,0:1682:37:1608:44809:850 0/1:-877.006,0,-958.443:1116:543:555:15362:16078 0/1:-1692.74,0,-2020.69:2177:1087:1043:29444:33022 1/1:-3244.06,-397.883,0:1465:25:1415:40586:448 1/1:-2197.4,-287.608,0:1064:18:1024:28528:332 1/1:-4418.1,-550.21,0:2051:34:1975:55217:766 0/1:-1240,0,-1766.67:1745:919:784:21869:28168 1/1:-1821.42,-249.436,0:866:5:843:23416:96 1/1:-3555.47,-428.585,0:1650:30:1592:44883:772 1/1:-3083.11,-389.059,0:1430:20:1374:38592:364 0/1:-1187.74,0,-1687.07:1672:875:764:21104:26806 1/1:-3457.79,-407.075,0:1589:34:1523:43219:823 0/1:-1855.15,0,-2037.53:2180:1060:1080:30697:32476 0/1:-1425.39,0,-1927.65:1919:1000:884:24674:30537 . 1/1:-2892.26,-372.383,0:1341:17:1290:36510:305 1/1:-4297.58,-556.968,0:2012:26:1942:54202:452 1/1:-3731.51,-462.761,0:1787:32:1703:47428:720 1/1:-4071.44,-528.613,0:1929:26:1868:51841:519 1/1:-2211.38,-286.273,0:1043:16:1001:27678:268 1/1:-2148.59,-249.978,0:964:17:934:26649:428 1/1:-3467.42,-439.499,0:1615:24:1569:44052:493 0/1:-1592.6,0,-1576.28:1901:892:971:26948:26748 0/1:-1511.86,0,-1863.26:1944:981:933:25975:30147 1/1:-3004.87,-377.097,0:1408:30:1355:37983:539 1/1:-2880.61,-391.926,0:1371:9:1327:36249:126 1/1:-3333.95,-405.976,0:1525:24:1467:41803:556 1/1:-2598.25,-336.876,0:1213:14:1171:32626:236 1/1:-3693.23,-458.056,0:1716:30:1657:46494:645 0/1:-783.302,0,-891.813:927:456:454:12904:14149 1/1:-3168.73,-400.755,0:1492:22:1431:39884:496 1/1:-4724.07,-600.172,0:2165:31:2084:59708:527 1/1:-3035.93,-385.771,0:1397:21:1348:38226:360 1/1:-4400.75,-570.689,0:2021:21:1959:54759:325 1/1:-3599.58,-459.453,0:1679:28:1615:45420:448 1/1:-3871.82,-483.152,0:1814:27:1744:49056:588 . 0/1:-2242.24,0,-2454.29:2250:1134:1092:34036:36253:1134,1092 1/1:-5125.74,-558.419,0:1952:13:1924:59938:292:13,1924 1/1:-5180.78,-554.103,0:1978:18:1936:60818:408:18,1936 1/1:-3149.42,-348.861,0:1203:6:1182:36945:106:6,1182 1/1:-4349.99,-487.189,0:1658:6:1637:50865:119:6,1637 1/1:-5495.73,-608.905,0:2106:9:2064:64663:192:9,2064 . 1/1:-5071.16,-556.15,0:1910:6:1881:59260:146:6,1881 1/1:-4565.26,-507.204,0:1744:8:1712:53549:125:8,1712 1/1:-5737.83,-616.03,0:2209:21:2157:67641:491:21,2157 1/1:-5398.93,-575.039,0:2020:12:1985:63039:303:12,1985 1/1:-4000.4,-431.802,0:1515:12:1487:46938:230:12,1487 1/1:-4800.3,-526.271,0:1795:6:1770:56308:106:6,1770 1/1:-4497.55,-500.208,0:1712:10:1689:52651:140:10,1689 1/1:-5420.71,-595.513,0:2058:14:2029:63552:247:14,2029 1/1:-4907.01,-533.103,0:1873:13:1840:57752:299:13,1840 1/1:-5584.26,-597.875,0:2159:23:2107:66005:520:23,2107 1/1:-4302.36,-473.031,0:1607:6:1583:50265:84:6,1583 1/1:-4161.07,-451.549,0:1551:8:1523:48300:112:8,1523 0/1:-2266.84,0,-2222.13:2177:1052:1098:34203:33402:1052,1098 chr10 75874667 . A T 5973.45 . AB=0.427842;ABP=38.4222;AC=2;AF=0.5;AN=4;AO=335;CIGAR=1X;DP=1612;DPB=783;DPRA=0;EPP=9.23951;EPPR=19.229;GTI=0;LEN=1;MEANALT=3;MQM=37.7761;MQMR=38.554;NS=1;NUMALT=1;ODDS=1202.66;PAIRED=0.931343;PAIREDR=0.94023;PAO=0;PQA=0;PQR=0;PRO=0;QA=9623;QR=13023;RO=435;RPL=60;RPP=302.641;RPPR=288.152;RPR=275;RUN=1;SAF=168;SAP=3.01678;SAR=167;SF=0;SRF=205;SRP=6.13023;SRR=230;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0038;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0038;1000g2015aug_all=0.000998403;avsnp147=rs71579379;Kaviar_AF=0.0022574;Kaviar_AC=349;Kaviar_AN=154602;ExAC_ALL=0.0037;ExAC_AFR=0.0004;ExAC_AMR=0.005;ExAC_EAS=0;ExAC_FIN=0.0051;ExAC_NFE=0.0058;ExAC_OTH=0.0033;ExAC_SAS=0.0013;CLNALLELEID=54775;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3728;dpsi_zscore=-0.951;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0027;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0045;gnomAD_exome_OTH=0.0016;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0045;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-565.725,0,-853.116:783:435:335:9623:13023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-713.791,0,-834.586:829:427:389:11263:12809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88439933 . G A 3753.98 . AB=0.412979;ABP=47.6056;AC=1;AF=0.5;AN=2;AO=280;CIGAR=1X;DP=678;DPB=678;DPRA=0;EPP=3.78583;EPPR=15.2306;GTI=0;LEN=1;MEANALT=3;MQM=34.4143;MQMR=34.8803;NS=1;NUMALT=1;ODDS=864.385;PAIRED=0.892857;PAIREDR=0.909574;PAO=0;PQA=0;PQR=0;PRO=0;QA=7687;QR=11849;RO=376;RPL=187;RPP=71.5358;RPPR=31.3087;RPR=93;RUN=1;SAF=92;SAP=74.4828;SAR=188;SF=0;SRF=138;SRP=60.7622;SRR=238;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs147246015;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0011;ExAC_FIN=0.0002;ExAC_NFE=1.587e-05;ExAC_OTH=0.0012;ExAC_SAS=6.365e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0757;dpsi_zscore=0.402;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.179e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=4.536e-05;gnomAD_exome_NFE=1.804e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.271e-05;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-400.234,0,-732.596:678:376:280:7687:11849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88441198 . C T 3367.15 . AB=0.454376;ABP=12.7192;AC=1;AF=0.5;AN=2;AO=244;CIGAR=1X;DP=537;DPB=537;DPRA=0;EPP=57.1547;EPPR=22.2609;GTI=0;LEN=1;MEANALT=3;MQM=30.6475;MQMR=31.1489;NS=1;NUMALT=1;ODDS=775.316;PAIRED=0.836066;PAIREDR=0.812057;PAO=0;PQA=0;PQR=0;PRO=0;QA=7320;QR=8838;RO=282;RPL=71;RPP=95.6005;RPPR=68.1853;RPR=173;RUN=1;SAF=156;SAP=44.1615;SAR=88;SF=0;SRF=177;SRP=42.9284;SRR=105;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.C327T:p.P109P,LDB3:NM_001171611:exon4:c.C327T:p.P109P,LDB3:NM_007078:exon4:c.C327T:p.P109P,LDB3:NM_001171610:exon5:c.C327T:p.P109P;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs746481307;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.582e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.575e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7368;dpsi_zscore=1.340;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.261e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.246e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-363.794,0,-475.998:537:282:244:7320:8838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88441336 . C T 2745.43 . AB=0.41018;ABP=49.8205;AC=2;AF=0.5;AN=4;AO=274;CIGAR=1X;DP=1212;DPB=668;DPRA=0;EPP=35.4714;EPPR=3.88865;GTI=0;LEN=1;MEANALT=3;MQM=29.1204;MQMR=29.3483;NS=1;NUMALT=1;ODDS=683.71;PAIRED=0.974453;PAIREDR=0.963483;PAO=0;PQA=0;PQR=0;PRO=0;QA=6919;QR=10585;RO=356;RPL=158;RPP=16.9901;RPPR=4.57181;RPR=116;RUN=1;SAF=141;SAP=3.51751;SAR=133;SF=0;SRF=188;SRP=5.45016;SRR=168;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.C465T:p.L155L,LDB3:NM_001171611:exon4:c.C465T:p.L155L,LDB3:NM_007078:exon4:c.C465T:p.L155L,LDB3:NM_001171610:exon5:c.C465T:p.L155L;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0027;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0027;1000g2015aug_all=0.000199681;avsnp147=rs45516997;Kaviar_AF=0.0022445;Kaviar_AC=347;Kaviar_AN=154602;ExAC_ALL=0.0025;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0043;ExAC_NFE=0.0040;ExAC_OTH=0.0012;ExAC_SAS=6.082e-05;CLNALLELEID=141803;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4868;dpsi_zscore=-1.078;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0040;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=3.252e-05;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-311.415,0,-550.051:668:356:274:6919:10585 . . . . . . . . . 0/1:-265.979,0,-393.989:544:270:240:6248:8112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88441404 . G A 5576.15 . AB=0.474522;ABP=8.32142;AC=1;AF=0.5;AN=2;AO=447;CIGAR=1X;DP=942;DPB=942;DPRA=0;EPP=76.5052;EPPR=54.7792;GTI=0;LEN=1;MEANALT=3;MQM=28.9418;MQMR=30.1416;NS=1;NUMALT=1;ODDS=1283.96;PAIRED=0.914989;PAIREDR=0.91236;PAO=0;PQA=0;PQR=0;PRO=0;QA=12336;QR=13817;RO=445;RPL=122;RPP=203.199;RPPR=91.9431;RPR=325;RUN=1;SAF=273;SAP=50.6224;SAR=174;SF=0;SRF=305;SRP=135.86;SRR=140;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.G533A:p.R178Q,LDB3:NM_001171611:exon4:c.G533A:p.R178Q,LDB3:NM_007078:exon4:c.G533A:p.R178Q,LDB3:NM_001171610:exon5:c.G533A:p.R178Q;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs143311349;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.408e-05;ExAC_AFR=0.0001;ExAC_AMR=8.718e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.563e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=425892;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.789;SIFT_pred=T;Polyphen2_HDIV_score=0.429;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.081;Polyphen2_HVAR_pred=B;LRT_score=0.418;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=1.26;FATHMM_pred=T;PROVEAN_score=0.53;PROVEAN_pred=N;VEST3_score=0.078;CADD_raw=-0.488;CADD_phred=0.235;DANN_score=0.824;fathmm-MKL_coding_score=0.028;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=-8.62;phyloP7way_vertebrate=-0.942;phyloP20way_mammalian=-1.586;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=4.427;GDI_full_10282015=.;dpsi_max_tissue=-0.1980;dpsi_zscore=-0.683;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.449e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.811e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.025e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.696e-05;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-598.399,0,-709.843:942:445:447:12336:13817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88445385 . G C 21149.38 . AB=0.456848;ABP=20.2517;AC=177;AF=0.5;AN=216;AO=487;CIGAR=1X;DP=135513;DPB=1066;DPRA=0;EPP=54.06;EPPR=60.7249;GTI=0;LEN=1;MEANALT=3;MQM=33.9897;MQMR=36.1089;NS=1;NUMALT=1;ODDS=1699.83;PAIRED=0.893224;PAIREDR=0.916071;PAO=0;PQA=0;PQR=0;PRO=0;QA=13777;QR=16313;RO=560;RPL=155;RPP=142.702;RPPR=137.161;RPR=332;RUN=1;SAF=271;SAP=16.4984;SAR=216;SF=0,1;SRF=302;SRP=10.5174;SRR=258;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.7102;esp6500siv2_ea=0.7528;esp6500siv2_all=0.7102;esp6500siv2_ea=0.7528;1000g2015aug_all=0.624201;avsnp147=rs3740345;Kaviar_AF=0.0040297;Kaviar_AC=623;Kaviar_AN=154602;ExAC_ALL=0.6875;ExAC_AFR=0.5941;ExAC_AMR=0.4747;ExAC_EAS=0.4540;ExAC_FIN=0.6472;ExAC_NFE=0.7452;ExAC_OTH=0.6944;ExAC_SAS=0.7966;CLNALLELEID=253888;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.3250;dpsi_zscore=-1.638;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6758;gnomAD_exome_AFR=0.5900;gnomAD_exome_AMR=0.4848;gnomAD_exome_ASJ=0.7475;gnomAD_exome_EAS=0.4577;gnomAD_exome_FIN=0.6465;gnomAD_exome_NFE=0.7447;gnomAD_exome_OTH=0.6842;gnomAD_exome_SAS=0.7961;gnomAD_genome_ALL=0.6677;gnomAD_genome_AFR=0.5862;gnomAD_genome_AMR=0.5370;gnomAD_genome_ASJ=0.7417;gnomAD_genome_EAS=0.4597;gnomAD_genome_FIN=0.6506;gnomAD_genome_NFE=0.7454;gnomAD_genome_OTH=0.6984;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-767.315,0,-1016.72:1066:560:487:13777:16313 1/1:-3026.95,-396.772,0:1428:17:1385:38723:387 . 1/1:-1742.3,-216.897,0:774:8:752:21680:214 1/1:-2954.1,-384.464,0:1387:19:1336:37592:337 0/1:-1208.48,0,-1546.15:1625:839:760:21294:25026 0/1:-827.72,0,-898.67:1052:508:519:14410:15295 1/1:-2871.75,-361.203,0:1345:21:1305:36664:464 1/1:-2567.27,-333.715,0:1207:13:1167:32110:283 0/1:-1023.2,0,-1170.89:1358:659:667:18141:19526 0/1:-811.996,0,-993.201:1123:573:528:14390:16927 1/1:-2671.93,-348.845,0:1236:12:1201:33698:201 1/1:-2541.77,-329.384,0:1183:14:1149:32273:298 1/1:-1898.82,-265.06,0:939:9:911:24650:139 1/1:-1958.16,-246.993,0:895:9:866:24471:202 1/1:-4049.22,-517.84,0:1883:23:1821:50652:468 1/1:-1863.87,-254.982,0:908:16:878:24001:264 1/1:-5929.2,-743.324,0:2734:41:2641:74835:864 1/1:-2544.18,-334.224,0:1155:9:1131:32411:173 1/1:-1724.86,-239.674,0:834:5:814:22264:83 1/1:-1906.63,-244.213,0:880:12:857:24164:263 1/1:-3089.13,-385.023,0:1379:14:1342:38517:278 0/1:-510.269,0,-647.246:737:377:344:9229:11083 0/1:-1304.74,0,-1350.94:1633:789:808:22542:23192 1/1:-3124.7,-407.676,0:1480:19:1435:39499:383 0/1:-554.358,0,-843.219:897:488:387:10532:14347 1/1:-2748.37,-355.6,0:1285:14:1237:34544:271 0/1:-938.077,0,-850.109:1089:499:573:15992:14552 0/1:-788.932,0,-584.708:897:374:501:13763:10900 1/1:-2248.92,-288.472,0:1048:14:1016:28374:295 0/1:-965.463,0,-941.108:1128:537:569:15953:15840 0/1:-1172.07,0,-1351.54:1530:768:737:20606:22253 . 1/1:-3004.87,-390.03,0:1384:14:1346:37945:238 0/1:-995.981,0,-1040.48:1219:588:602:16833:17235 1/1:-2783.34,-369.636,0:1338:16:1288:35108:357 . 1/1:-2449.06,-320.688,0:1151:15:1112:30993:285 0/1:-974.377,0,-865.853:1148:542:588:16408:15612 1/1:-1977.5,-258.042,0:900:7:879:24543:98 1/1:-3353.92,-432.427,0:1512:11:1473:41975:210 0/1:-984.497,0,-1118.18:1266:624:616:17110:18748 1/1:-2777.16,-363.411,0:1267:12:1233:34839:186 1/1:-2601.16,-315.815,0:1195:24:1155:32846:519 1/1:-3297.23,-430.203,0:1531:16:1482:41219:336 0/1:-1019.73,0,-1069.61:1259:604:626:17426:17932 1/1:-2738.39,-347.275,0:1259:15:1225:34542:314 0/1:-683.263,0,-543.349:753:322:416:11271:9556 1/1:-2229.88,-288.085,0:1028:12:990:27974:256 1/1:-3477.04,-444.545,0:1610:16:1561:43731:383 0/1:-1132.95,0,-1436.58:1518:789:702:19786:23642 1/1:-2159.26,-302.529,0:1064:10:1029:28515:147 0/1:-1287.48,0,-1438.06:1623:804:792:22128:23988 0/1:-1225.18,0,-1257.18:1527:740:761:20826:21526 0/1:-643.656,0,-621.963:827:402:413:11414:11545 . 1/1:-3159.94,-412.581,0:1445:11:1408:39520:211 0/1:-512.588,0,-591.819:673:343:320:9012:9959 1/1:-1785.17,-217.161,0:850:16:814:22652:397 0/1:-1124.64,0,-1055.63:1329:619:693:19048:18136 1/1:-1604.36,-224.938,0:811:10:778:21552:215 1/1:-3283.78,-416.135,0:1542:24:1494:41886:478 1/1:-2452.92,-321.739,0:1136:12:1102:30839:217 1/1:-1599.26,-221.345,0:791:8:764:21260:152 0/1:-1162,0,-1451.87:1548:794:726:20226:23764 1/1:-2966.94,-387.114,0:1355:11:1324:37165:185 0/1:-496.042,0,-480.148:667:308:345:9373:8906 0/1:-962.396,0,-1043.59:1193:585:584:16528:17546 1/1:-2236.85,-299.451,0:1063:7:1030:28389:164 0/1:-1077.38,0,-1066.89:1306:618:667:18432:18176 1/1:-2659.5,-343.531,0:1232:11:1197:33712:233 0/1:-1490.3,0,-1556.35:1794:864:896:25036:25813 1/1:-3104.88,-397.614,0:1461:23:1419:39511:438 1/1:-1352.97,-198.677,0:736:14:707:18752:214 1/1:-2335.08,-291.71,0:1064:16:1030:29167:315 . 1/1:-2912.07,-386.363,0:1370:15:1329:37107:303 1/1:-3255.41,-412.775,0:1487:16:1447:40905:426 1/1:-1785.35,-236.638,0:831:5:808:22286:123 1/1:-1582.17,-209.836,0:756:12:734:20178:274 0/1:-1024.03,0,-1356.5:1422:744:661:18305:22328 0/1:-1235.82,0,-1300.04:1540:761:752:21078:22559 1/1:-2790.96,-352.457,0:1328:26:1269:35152:553 1/1:-2237.75,-298.871,0:1094:20:1050:28954:416 1/1:-2280.87,-289.32,0:1079:20:1040:29147:417 1/1:-2646.08,-335.2,0:1211:18:1179:33019:323 . 1/1:-2619.93,-322.519,0:1246:28:1187:33377:529 0/1:-732.493,0,-600.313:793:360:425:11993:10257 1/1:-2439.2,-331.345,0:1156:8:1128:31364:134 0/1:-1418.87,0,-1321.7:1657:765:869:23818:22533 0/1:-962.535,0,-850.816:1111:514:581:16156:14919 0/1:-1379.23,0,-1382.81:1627:774:827:23006:23112 1/1:-2987.69,-363.24,0:1398:33:1346:37695:693 1/1:-2952.56,-393.337,0:1387:14:1351:37297:293 . 0/1:-1537.25,0,-1831.11:1678:886:777:23922:27254:886,777 1/1:-3744.97,-420.18,0:1464:8:1428:44011:161:8,1428 1/1:-4062.76,-454.84,0:1559:8:1531:47732:112:8,1531 . 1/1:-2965.69,-340.507,0:1187:6:1163:35342:128:6,1163 1/1:-3818.55,-429.136,0:1481:6:1455:45049:132:6,1455 1/1:-3468.01,-387.194,0:1343:8:1315:40806:214:8,1315 1/1:-3673.69,-411.016,0:1454:14:1422:43889:320:14,1422 1/1:-3334.38,-372.326,0:1297:9:1270:39403:161:9,1270 1/1:-3261.05,-362.846,0:1315:12:1283:39350:314:12,1283 0/1:-1626.53,0,-1592.3:1569:759:790:24532:24068:759,790 1/1:-3095.79,-343.173,0:1193:7:1170:36494:133:7,1170 1/1:-3122.72,-351.499,0:1216:5:1198:36913:132:5,1198 1/1:-3010.89,-329.69,0:1202:10:1169:36001:286:10,1169 0/1:-1545.22,0,-1602.56:1626:808:798:24271:24780:808,798 0/1:-1402.1,0,-1443.39:1403:693:697:21396:21926:693,697 1/1:-3918.78,-436.127,0:1539:12:1506:46378:247:12,1506 0/1:-1080.43,0,-1276.03:1187:627:546:16827:19232:627,546 1/1:-3342.77,-376.328,0:1274:2:1253:39002:28:2,1253 1/1:-3930.55,-435.936,0:1543:11:1511:46570:251:11,1511 chr10 88446811 . G A 1849.35 . AB=0.329114;ABP=123.238;AC=7;AF=0.5;AN=12;AO=156;CIGAR=1X;DP=2889;DPB=474;DPRA=0;EPP=8.57818;EPPR=10.8276;GTI=0;LEN=1;MEANALT=3;MQM=25.4423;MQMR=25.724;NS=1;NUMALT=1;ODDS=191.871;PAIRED=0.884615;PAIREDR=0.828;PAO=0;PQA=0;PQR=0;PRO=0;QA=3491;QR=6795;RO=250;RPL=28;RPP=142.207;RPPR=73.366;RPR=128;RUN=1;SAF=110;SAP=60.0254;SAR=46;SF=0,1;SRF=172;SRP=79.7588;SRR=78;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0718;esp6500siv2_ea=0.0396;esp6500siv2_all=0.0718;esp6500siv2_ea=0.0396;1000g2015aug_all=0.0613019;avsnp147=rs113445294;Kaviar_AF=0.0407369;Kaviar_AC=6298;Kaviar_AN=154602;ExAC_ALL=0.0418;ExAC_AFR=0.1541;ExAC_AMR=0.0230;ExAC_EAS=0.0031;ExAC_FIN=0.0316;ExAC_NFE=0.0363;ExAC_OTH=0.0549;ExAC_SAS=0.0341;CLNALLELEID=53044;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.5773;dpsi_zscore=-1.749;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0399;gnomAD_exome_AFR=0.1514;gnomAD_exome_AMR=0.0246;gnomAD_exome_ASJ=0.0541;gnomAD_exome_EAS=0.0028;gnomAD_exome_FIN=0.0319;gnomAD_exome_NFE=0.0360;gnomAD_exome_OTH=0.0413;gnomAD_exome_SAS=0.0371;gnomAD_genome_ALL=0.0686;gnomAD_genome_AFR=0.1458;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0367;gnomAD_genome_NFE=0.0414;gnomAD_genome_OTH=0.0666;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-116.425,0,-314.209:474:250:156:3491:6795 . . . . . 0/1:-125.808,0,-227.374:399:187:157:3534:5019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-153.107,0,-372.458:528:270:196:4263:7585 . . . . . . . . . . . . . . . . . 1/1:-502.071,-80.9669,0:470:26:352:7668:487 . . . . . . . . . . . . . . . . 0/1:-133.565,0,-320.674:552:285:209:4424:7420 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-249.094,0,-436.737:466:240:180:4732:7084:240,180 . . . chr10 88446830 . G A 2469.84 . AB=0.424;ABP=34.3664;AC=1;AF=0.5;AN=2;AO=265;CIGAR=1X;DP=625;DPB=625;DPRA=0;EPP=3.67403;EPPR=9.43118;GTI=0;LEN=1;MEANALT=3;MQM=27.1774;MQMR=27.1015;NS=1;NUMALT=1;ODDS=568.701;PAIRED=0.841509;PAIREDR=0.864615;PAO=0;PQA=0;PQR=0;PRO=0;QA=6423;QR=9550;RO=325;RPL=65;RPP=152.35;RPPR=76.6733;RPR=200;RUN=1;SAF=162;SAP=31.5344;SAR=103;SF=0;SRF=215;SRP=76.6733;SRR=110;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.G349A:p.D117N,LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001171611:exon5:c.G694A:p.D232N,LDB3:NM_001171610:exon6:c.G694A:p.D232N;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0040;1000g2015aug_all=0.00778754;avsnp147=rs121908338;Kaviar_AF=0.0042173;Kaviar_AC=652;Kaviar_AN=154602;ExAC_ALL=0.0046;ExAC_AFR=0.0154;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0043;ExAC_OTH=0.0078;ExAC_SAS=0.0031;CLNALLELEID=19772;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.336;SIFT_pred=T;Polyphen2_HDIV_score=0.695;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.177;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=1.11;FATHMM_pred=T;PROVEAN_score=-0.88;PROVEAN_pred=N;VEST3_score=0.085;CADD_raw=3.591;CADD_phred=23.2;DANN_score=0.998;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.543;MetaSVM_pred=T;MetaLR_score=0.220;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.07;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.905;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=14.523;GDI_full_10282015=.;dpsi_max_tissue=-0.8847;dpsi_zscore=-1.401;hgmdCODING=HGMD::Cardiomyopathy,_dilated#14662268;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM033941#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0152;gnomAD_exome_AMR=0.0056;gnomAD_exome_ASJ=0.0104;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0025;gnomAD_genome_ALL=0.0057;gnomAD_genome_AFR=0.0137;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-274.247,0,-454.544:625:325:265:6423:9550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88446985 . T C 13444.97 . AB=0.46971;ABP=12.6134;AC=7;AF=0.5;AN=12;AO=566;CIGAR=1X;DP=8063;DPB=1205;DPRA=0;EPP=6.9389;EPPR=5.80118;GTI=0;LEN=1;MEANALT=3;MQM=31.3657;MQMR=35.0902;NS=1;NUMALT=1;ODDS=1981.13;PAIRED=0.863958;PAIREDR=0.845902;PAO=0;PQA=0;PQR=0;PRO=0;QA=16286;QR=17794;RO=610;RPL=278;RPP=3.39395;RPPR=3.52291;RPR=288;RUN=1;SAF=295;SAP=5.22014;SAR=271;SF=0,1;SRF=336;SRP=16.6941;SRR=274;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.T504C:p.D168D,LDB3:NM_001080116:exon5:c.T504C:p.D168D,LDB3:NM_001171611:exon5:c.T849C:p.D283D,LDB3:NM_001171610:exon6:c.T849C:p.D283D;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0730;esp6500siv2_ea=0.0407;esp6500siv2_all=0.0730;esp6500siv2_ea=0.0407;1000g2015aug_all=0.0567093;avsnp147=rs76615432;Kaviar_AF=0.0406657;Kaviar_AC=6287;Kaviar_AN=154602;ExAC_ALL=0.0406;ExAC_AFR=0.1414;ExAC_AMR=0.0216;ExAC_EAS=0.0031;ExAC_FIN=0.0316;ExAC_NFE=0.0361;ExAC_OTH=0.0576;ExAC_SAS=0.0339;CLNALLELEID=53048;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4595;dpsi_zscore=1.090;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0393;gnomAD_exome_AFR=0.1436;gnomAD_exome_AMR=0.0240;gnomAD_exome_ASJ=0.0542;gnomAD_exome_EAS=0.0028;gnomAD_exome_FIN=0.0318;gnomAD_exome_NFE=0.0360;gnomAD_exome_OTH=0.0411;gnomAD_exome_SAS=0.0369;gnomAD_genome_ALL=0.0697;gnomAD_genome_AFR=0.1496;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0366;gnomAD_genome_NFE=0.0414;gnomAD_genome_OTH=0.0662;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-869.462,0,-1050.54:1205:610:566:16286:17794 . . . . . 0/1:-702.136,0,-995.887:1047:550:468:13642:16540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1151.69,0,-1449.8:1597:821:722:21348:24274 . . . . . . . . . . . . . . . . . 1/1:-2743.24,-339.818,0:1305:23:1267:37621:629 . . . . . . . . . . . . . . . . 0/1:-1137.49,0,-1118.44:1422:660:727:20749:19758 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1514.02,0,-1530.05:1487:736:732:23176:23328:736,732 . . . chr10 88447027 . T C 7912.72 . AB=0.482422;ABP=5.75857;AC=2;AF=0.5;AN=4;AO=494;CIGAR=1X;DP=2037;DPB=1024;DPRA=0;EPP=79.6009;EPPR=45.5712;GTI=0;LEN=1;MEANALT=3;MQM=33.2409;MQMR=34.3898;NS=1;NUMALT=1;ODDS=1680.43;PAIRED=0.910931;PAIREDR=0.853061;PAO=0;PQA=0;PQR=0;PRO=0;QA=13729;QR=13810;RO=490;RPL=340;RPP=155.084;RPPR=302.585;RPR=154;RUN=1;SAF=203;SAP=37.0505;SAR=291;SF=0,1;SRF=217;SRP=16.9077;SRR=273;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.T546C:p.S182S,LDB3:NM_001080116:exon5:c.T546C:p.S182S,LDB3:NM_001171611:exon5:c.T891C:p.S297S,LDB3:NM_001171610:exon6:c.T891C:p.S297S;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0036;1000g2015aug_all=0.00339457;avsnp147=rs71473272;Kaviar_AF=0.0051228;Kaviar_AC=792;Kaviar_AN=154602;ExAC_ALL=0.0055;ExAC_AFR=0.0015;ExAC_AMR=0.0050;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0056;ExAC_OTH=0.0089;ExAC_SAS=0.0124;CLNALLELEID=53049;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.8041;dpsi_zscore=2.398;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0050;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0037;gnomAD_exome_ASJ=0.0145;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0048;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0124;gnomAD_genome_ALL=0.0027;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0044;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-772.798,0,-774.875:1024:490:494:13729:13810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1105.35,0,-933.457:1013:465:530:16285:14389:465,530 . . . . . . . . . . . . . . . . . . chr10 88447036 . G A 6309.88 . AB=0.447038;ABP=30.1518;AC=1;AF=0.5;AN=2;AO=498;CIGAR=1X;DP=1114;DPB=1114;DPRA=0;EPP=26.8878;EPPR=12.0411;GTI=0;LEN=1;MEANALT=3;MQM=34.988;MQMR=33.5776;NS=1;NUMALT=1;ODDS=1452.9;PAIRED=0.839357;PAIREDR=0.830325;PAO=0;PQA=0;PQR=0;PRO=0;QA=12539;QR=16668;RO=554;RPL=389;RPP=344.865;RPPR=456.119;RPR=109;RUN=1;SAF=223;SAP=14.8008;SAR=275;SF=0;SRF=230;SRP=37.6441;SRR=324;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs754174632;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.987e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.53e-05;ExAC_OTH=0;ExAC_SAS=6.057e-05;CLNALLELEID=317037;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5543;dpsi_zscore=1.803;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.256e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.287e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-679.335,0,-946.768:1114:554:498:12539:16668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88458996 . TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG TTCTCTCTCTCTCTCTCTCTCTCTG,TTCTCTCTCTCTCTCTCTCTCTCTCTCTG,TTCTCTCTCTCTCTCTCTCTCTCTCTG 1500.96 . AB=0;ABP=0;AC=56,65,14;AF=1;AN=146;AO=103;CIGAR=1M6D23M;DP=39419;DPB=497.133;DPRA=0;EPP=12.3076;EPPR=4.09604;GTI=0;LEN=6;MEANALT=134;MQM=23.0777;MQMR=30;NS=1;NUMALT=1;ODDS=235.012;PAIRED=0.912621;PAIREDR=1;PAO=131;PQA=4044;PQR=4183;PRO=135;QA=1662;QR=257;RO=8;RPL=54;RPP=3.53736;RPPR=4.09604;RPR=49;RUN=1;SAF=80;SAP=71.5066;SAR=23;SF=0,1;SRF=8;SRP=20.3821;SRR=0;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.36262;avsnp147=rs139252694;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;ExAC_ALL=0.2687;ExAC_AFR=0.4351;ExAC_AMR=0.3287;ExAC_EAS=0.4485;ExAC_FIN=0.2346;ExAC_NFE=0.2190;ExAC_OTH=0.2593;ExAC_SAS=0.2469;CLNALLELEID=53052;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2530;gnomAD_exome_AFR=0.4261;gnomAD_exome_AMR=0.3090;gnomAD_exome_ASJ=0.2252;gnomAD_exome_EAS=0.4363;gnomAD_exome_FIN=0.2300;gnomAD_exome_NFE=0.2007;gnomAD_exome_OTH=0.2464;gnomAD_exome_SAS=0.2309;gnomAD_genome_ALL=0.3628;gnomAD_genome_AFR=0.5711;gnomAD_genome_AMR=0.3394;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.6660;gnomAD_genome_FIN=0.2591;gnomAD_genome_NFE=0.2359;gnomAD_genome_OTH=0.2742;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.252396;avsnp147=rs201580455;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.3036;ExAC_AFR=0.1603;ExAC_AMR=0.3366;ExAC_EAS=0.1875;ExAC_FIN=0.3002;ExAC_NFE=0.3382;ExAC_OTH=0.3125;ExAC_SAS=0.2884;CLNALLELEID=53050;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3252;gnomAD_exome_AFR=0.1758;gnomAD_exome_AMR=0.3612;gnomAD_exome_ASJ=0.3660;gnomAD_exome_EAS=0.2249;gnomAD_exome_FIN=0.3019;gnomAD_exome_NFE=0.3531;gnomAD_exome_OTH=0.3368;gnomAD_exome_SAS=0.3102;gnomAD_genome_ALL=0.2747;gnomAD_genome_AFR=0.1745;gnomAD_genome_AMR=0.3659;gnomAD_genome_ASJ=0.3897;gnomAD_genome_EAS=0.1986;gnomAD_genome_FIN=0.2907;gnomAD_genome_NFE=0.3294;gnomAD_genome_OTH=0.3213;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.109824;avsnp147=rs397516559;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.1357;ExAC_AFR=0.1675;ExAC_AMR=0.1237;ExAC_EAS=0.0483;ExAC_FIN=0.1841;ExAC_NFE=0.1476;ExAC_OTH=0.1539;ExAC_SAS=0.1029;CLNALLELEID=53051;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1423;gnomAD_exome_AFR=0.1838;gnomAD_exome_AMR=0.1320;gnomAD_exome_ASJ=0.1270;gnomAD_exome_EAS=0.0575;gnomAD_exome_FIN=0.1929;gnomAD_exome_NFE=0.1547;gnomAD_exome_OTH=0.1456;gnomAD_exome_SAS=0.0995;gnomAD_genome_ALL=0.1106;gnomAD_genome_AFR=0.1658;gnomAD_genome_AMR=0.0712;gnomAD_genome_ASJ=0.0793;gnomAD_genome_EAS=0.0236;gnomAD_genome_FIN=0.1585;gnomAD_genome_NFE=0.0808;gnomAD_genome_OTH=0.1022;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0,.,.,.,.,.,.,.:459:8:103,.,.:1662,.,.:257 . 1/1:.,.,0,.,.,.,.,.,.,.:543:7:115,.,.:2126,.,.:225 . 1/1:.,.,0,.,.,.,.,.,.,.:560:73:136,.,.:2369,.,.:2244 . 1/1:.,.,0,.,.,.,.,.,.,.:460:56:118,.,.:2109,.,.:1757 . 1/1:.,.,0,.,.,.,.,.,.,.:564:2:225,.,.:4431,.,.:68 . . . . 2/2:.,.,.,.,.,0,.,.,.,.:299:41:.,78,.:.,1527,.:1264 . 2/2:.,.,.,.,.,0,.,.,.,.:792:14:.,310,.:.,6537,.:445 2/2:.,.,.,.,.,0,.,.,.,.:346:5:.,114,.:.,2270,.:147 . 1/1:.,.,0,.,.,.,.,.,.,.:554:3:143,.,.:2732,.,.:91 . . . . . 2/2:.,.,.,.,.,0,.,.,.,.:613:82:.,192,.:.,4282,.:2514 3/3:.,.,.,.,.,.,.,.,.,0:335:46:.,.,81:.,.,1500:1412 2/2:.,.,.,.,.,0,.,.,.,.:567:102:.,152,.:.,3365,.:3183 3/3:.,.,.,.,.,.,.,.,.,0:522:5:.,.,132:.,.,2832:157 2/2:.,.,.,.,.,0,.,.,.,.:320:44:.,81,.:.,1627,.:1371 . . . 1/1:.,.,0,.,.,.,.,.,.,.:629:4:260,.,.:4722,.,.:132 . 1/1:.,.,0,.,.,.,.,.,.,.:605:2:250,.,.:5124,.,.:58 2/2:.,.,.,.,.,0,.,.,.,.:623:117:.,158,.:.,3499,.:3650 . . . . 2/2:.,.,.,.,.,0,.,.,.,.:615:102:.,173,.:.,3585,.:3185 2/2:.,.,.,.,.,0,.,.,.,.:550:96:.,150,.:.,3104,.:2978 . . . 2/2:.,.,.,.,.,0,.,.,.,.:547:84:.,119,.:.,2703,.:2592 2/2:.,.,.,.,.,0,.,.,.,.:516:15:.,201,.:.,4013,.:502 . 2/2:.,.,.,.,.,0,.,.,.,.:416:58:.,128,.:.,2762,.:1815 . 2/2:.,.,.,.,.,0,.,.,.,.:653:11:.,257,.:.,5751,.:348 1/1:.,.,0,.,.,.,.,.,.,.:390:1:89,.,.:1551,.,.:29 . . 1/1:.,.,0,.,.,.,.,.,.,.:278:37:63,.,.:1089,.,.:1152 1/1:.,.,0,.,.,.,.,.,.,.:463:72:119,.,.:2213,.,.:2263 2/2:.,.,.,.,.,0,.,.,.,.:629:101:.,149,.:.,3390,.:3164 1/1:.,.,0,.,.,.,.,.,.,.:275:1:62,.,.:1016,.,.:26 1/1:.,.,0,.,.,.,.,.,.,.:419:3:175,.,.:3104,.,.:91 2/2:.,.,.,.,.,0,.,.,.,.:584:101:.,171,.:.,3504,.:3230 2/2:.,.,.,.,.,0,.,.,.,.:269:42:.,67,.:.,1294,.:1342 . 2/2:.,.,.,.,.,0,.,.,.,.:548:4:.,243,.:.,5097,.:130 . 1/1:.,.,0,.,.,.,.,.,.,.:684:9:163,.,.:3084,.,.:293 1/1:.,.,0,.,.,.,.,.,.,.:630:1:259,.,.:4800,.,.:31 . . . 1/1:.,.,0,.,.,.,.,.,.,.:585:1:173,.,.:3152,.,.:27 1/1:.,.,0,.,.,.,.,.,.,.:582:4:132,.,.:2350,.,.:120 1/1:.,.,0,.,.,.,.,.,.,.:774:6:185,.,.:3343,.,.:199 2/2:.,.,.,.,.,0,.,.,.,.:643:116:.,175,.:.,3692,.:3668 . 2/2:.,.,.,.,.,0,.,.,.,.:491:85:.,141,.:.,3061,.:2675 . 2/2:.,.,.,.,.,0,.,.,.,.:640:118:.,175,.:.,3777,.:3699 2/2:.,.,.,.,.,0,.,.,.,.:650:113:.,173,.:.,3447,.:3532 1/1:.,.,0,.,.,.,.,.,.,.:423:3:116,.,.:2201,.,.:97 2/2:.,.,.,.,.,0,.,.,.,.:320:37:.,83,.:.,1659,.:1133 2/2:.,.,.,.,.,0,.,.,.,.:577:85:.,165,.:.,3199,.:2613 3/3:.,.,.,.,.,.,.,.,.,0:634:100:.,.,163:.,.,3216:3122 . 3/3:.,.,.,.,.,.,.,.,.,0:499:4:.,.,141:.,.,2801:128 2/2:.,.,.,.,.,0,.,.,.,.:505:9:.,166,.:.,3453,.:267 3/3:.,.,.,.,.,.,.,.,.,0:458:4:.,.,133:.,.,2739:118 1/1:.,.,0,.,.,.,.,.,.,.:396:2:167,.,.:3262,.,.:53 . 2/2:.,.,.,.,.,0,.,.,.,.:315:46:.,77,.:.,1441,.:1477 . 3/3:.,.,.,.,.,.,.,.,.,0:777:8:.,.,240:.,.,4741:253 2/2:.,.,.,.,.,0,.,.,.,.:454:58:.,129,.:.,2592,.:1826 1/1:.,.,0,.,.,.,.,.,.,.:745:6:186,.,.:3717,.,.:185 . . . 1/1:-232.188,-130.601,0,.,.,.,.,.,.,.:676:6:148,.,.:2856,.,.:189:6,148 0/2:-227.886,.,.,0,.,-124.867,.,.,.,.:593:90:.,170,.:.,3856,.:2812:90,170 2/1:-277.144,-203.198,-49.474,-185.169,0,-38.7303,.,.,.,.:669:6:148,124,.:2844,2915,.:186:6,124,148 1/1:-121.801,-88.3987,0,.,.,.,.,.,.,.:344:2:75,.,.:1417,.,.:59:2,75 1/1:-358.959,-116.047,0,.,.,.,.,.,.,.:579:0:216,.,.:4191,.,.:0:0,216 0/0:0,.,.,-4.6566,.,-377.878,-53.252,.,-391.7,-433.194:621:203:.,73,50:.,1647,1024:6319:203,73,50 2/1:-275.632,-152.942,-65.5269,-168.79,0,-94.6967,.,.,.,.:696:6:142,99,.:2603,2248,.:188:6,99,142 0/2:-165.291,.,.,0,.,-131.111,.,.,.,.:649:100:.,150,.:.,3434,.:3094:100,150 2/1:-274.051,-163.5,-33.9797,-192.63,0,-79.5489,.,.,.,.:674:7:148,110,.:2934,2474,.:218:7,110,148 2/2:-300.107,.,.,-93.7747,.,0,.,.,.,.:531:7:.,163,.:.,3657,.:217:7,163 0/2:-178.988,.,.,0,.,-125.161,.,.,.,.:687:110:.,182,.:.,4006,.:3440:110,182 0/3:-75.0983,.,.,.,.,.,0,.,.,-29.3667:450:52:.,.,100:.,.,2087:1623:52,100 1/1:-209.823,-122.588,0,.,.,.,.,.,.,.:549:3:118,.,.:2449,.,.:98:3,118 0/1:-66.8247,0,-133.619,.,.,.,.,.,.,.:543:90:104,.,.:1990,.,.:2756:90,104 2/2:-101.656,.,.,-23.5799,.,0,.,.,.,.:575:44:.,112,.:.,2508,.:1381:44,112 0/1:-93.7375,0,-89.9556,.,.,.,.,.,.,.:589:84:131,.,.:2476,.,.:2550:84,131 0/1:-112.544,0,-43.5814,.,.,.,.,.,.,.:713:82:174,.,.:3305,.,.:2558:82,174 0/2:-25.6748,.,.,0,.,-280.326,.,.,.,.:525:156:.,79,.:.,1771,.:4845:156,79 2/3:-346.755,.,.,-91.5936,.,-36.5348,-263.568,.,0,-235.601:461:8:.,164,74:.,3820,1557:251:8,164,74 0/2:-95.2054,.,.,0,.,-100.253,.,.,.,.:570:86:.,111,.:.,2429,.:2679:86,111 chr10 88459095 . T C 6720.33 . AB=0.481659;ABP=6.67444;AC=1;AF=0.5;AN=2;AO=604;CIGAR=1X;DP=1254;DPB=1254;DPRA=0;EPP=227.707;EPPR=321.414;GTI=0;LEN=1;MEANALT=3;MQM=27.5497;MQMR=29.873;NS=1;NUMALT=1;ODDS=1547.41;PAIRED=0.854305;PAIREDR=0.856913;PAO=0;PQA=0;PQR=0;PRO=0;QA=15724;QR=17731;RO=622;RPL=229;RPP=79.6446;RPPR=129.039;RPR=375;RUN=1;SAF=254;SAP=36.1432;SAR=350;SF=0;SRF=252;SRP=51.6206;SRR=370;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon7:c.T957C:p.H319H,LDB3:NM_001080116:exon8:c.T816C:p.H272H,LDB3:NM_001171611:exon8:c.T1161C:p.H387H;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs748780980;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.291e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=397978;CLNDN=Myofibrillar_myopathy,_ZASP-related;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.688e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-714.367,0,-895.978:1254:622:604:15724:17731 . . . . . . . . . . . . . . . . . . . . . . . . chr10 88466465 . C T 1995.11 . AB=0.419048;ABP=20.9405;AC=7;AF=0.5;AN=14;AO=132;CIGAR=1X;DP=3016;DPB=315;DPRA=0;EPP=3.27351;EPPR=44.7565;GTI=0;LEN=1;MEANALT=3;MQM=27.4848;MQMR=29.1834;NS=1;NUMALT=1;ODDS=231.419;PAIRED=0.969697;PAIREDR=0.946746;PAO=0;PQA=0;PQR=0;PRO=0;QA=3136;QR=4691;RO=169;RPL=92;RPP=47.4926;RPPR=3.02315;RPR=40;RUN=1;SAF=24;SAP=119.085;SAR=108;SF=0,1;SRF=33;SRP=139.325;SRR=136;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_007078:exon7:c.C1074T:p.A358A;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0270;esp6500siv2_ea=0.0369;esp6500siv2_all=0.0270;esp6500siv2_ea=0.0369;1000g2015aug_all=0.0201677;avsnp147=rs45459491;Kaviar_AF=0.0339388;Kaviar_AC=5247;Kaviar_AN=154602;ExAC_ALL=0.0396;ExAC_AFR=0.0051;ExAC_AMR=0.0139;ExAC_EAS=0.0006;ExAC_FIN=0.0319;ExAC_NFE=0.0489;ExAC_OTH=0.0294;ExAC_SAS=0.0615;CLNALLELEID=45106;CLNDN=Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9279;dpsi_zscore=1.477;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0328;gnomAD_exome_AFR=0.0045;gnomAD_exome_AMR=0.0137;gnomAD_exome_ASJ=0.0112;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0278;gnomAD_exome_NFE=0.0442;gnomAD_exome_OTH=0.0333;gnomAD_exome_SAS=0.0558;gnomAD_genome_ALL=0.0306;gnomAD_genome_AFR=0.0079;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0292;gnomAD_genome_NFE=0.0477;gnomAD_genome_OTH=0.0399;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-125.31,0,-246.392:315:169:132:3136:4691 . . . . . . . . . . . 0/1:-240.958,0,-361.592:475:240:209:4987:6737 . . . . . . . . . . . . 0/1:-247.744,0,-424.878:522:269:214:5369:7672 . . . . . . . . . . . . . 0/1:-215.184,0,-321.79:430:225:183:4478:6324 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-246.777,0,-421.328:505:255:216:5080:7457 . . . . . . . . . . . . . . 0/1:-340.99,0,-364.065:401:193:199:5606:5801:193,199 . . . . . 0/1:-278.38,0,-363.857:368:185:171:4592:5718:185,171 . . chr10 88469744 . GCCCCTG GCCCTG 10485.50 . AB=0.454019;ABP=28.3714;AC=1;AF=0.5;AN=2;AO=627;CIGAR=1M1D5M;DP=1381;DPB=1287;DPRA=0;EPP=3.29083;EPPR=7.43635;GTI=0;LEN=1;MEANALT=44;MQM=38.1451;MQMR=38.9301;NS=1;NUMALT=1;ODDS=2414.38;PAIRED=0.940989;PAIREDR=0.915141;PAO=11;PQA=333;PQR=333;PRO=11;QA=16475;QR=18697;RO=601;RPL=283;RPP=15.8971;RPPR=13.1595;RPR=344;RUN=1;SAF=341;SAP=13.4867;SAR=286;SF=1;SRF=316;SRP=6.48249;SRR=285;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=LDB3:NM_001080114:exon8:c.839delC:p.A280fs,LDB3:NM_007078:exon8:c.1169delC:p.A390fs,LDB3:NM_001171610:exon9:c.1184delC:p.A395fs;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.094e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.04e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1059.17,0,-1207.83:1381:601:627:16475:18697:601,627 . . . . . . . . . . . . . . . . . . chr10 88476200 . G C 21.81 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=5;CIGAR=1X;DP=6;DPB=6;DPRA=0;EPP=6.91895;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=19.8;MQMR=3;NS=1;NUMALT=1;ODDS=5.01483;PAIRED=0.6;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=70;QR=32;RO=1;RPL=1;RPP=6.91895;RPPR=5.18177;RPR=4;RUN=1;SAF=0;SAP=13.8677;SAR=5;SF=0;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon9:c.G1018C:p.V340L,LDB3:NM_007078:exon9:c.G1348C:p.V450L,LDB3:NM_001171610:exon10:c.G1363C:p.V455L;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.619;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.390;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.88;FATHMM_pred=T;PROVEAN_score=-0.34;PROVEAN_pred=N;VEST3_score=0.099;CADD_raw=1.192;CADD_phred=11.71;DANN_score=0.955;fathmm-MKL_coding_score=0.608;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.066;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.44;phyloP7way_vertebrate=0.830;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.890;phastCons20way_mammalian=0.278;SiPhy_29way_logOdds=10.217;GDI_full_10282015=.;dpsi_max_tissue=-0.0704;dpsi_zscore=-0.350;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.273e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.842e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=4.999e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.39233,-1.50645,0:6:1:5:70:32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88476217 . A C 21.82 . AB=0.375;ABP=4.09604;AC=1;AF=0.5;AN=2;AO=3;CIGAR=1X;DP=8;DPB=8;DPRA=0;EPP=3.73412;EPPR=6.91895;GTI=0;LEN=1;MEANALT=1;MQM=27.6667;MQMR=12;NS=1;NUMALT=1;ODDS=5.01716;PAIRED=0.333333;PAIREDR=0.6;PAO=0;PQA=0;PQR=0;PRO=0;QA=60;QR=92;RO=5;RPL=1;RPP=3.73412;RPPR=6.91895;RPR=2;RUN=1;SAF=0;SAP=9.52472;SAR=3;SF=0;SRF=0;SRP=13.8677;SRR=5;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon9:c.A1035C:p.P345P,LDB3:NM_007078:exon9:c.A1365C:p.P455P,LDB3:NM_001171610:exon10:c.A1380C:p.P460P;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1049;dpsi_zscore=-0.464;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-2.08877,0,-1.27233:8:5:3:60:92 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88476505 . C T 6538.76 . AB=0.48118;ABP=6.03446;AC=1;AF=0.5;AN=2;AO=473;CIGAR=1X;DP=983;DPB=983;DPRA=0;EPP=28.8338;EPPR=3.02862;GTI=0;LEN=1;MEANALT=3;MQM=32.0254;MQMR=32.8333;NS=1;NUMALT=1;ODDS=1505.6;PAIRED=0.818182;PAIREDR=0.763713;PAO=0;PQA=0;PQR=0;PRO=0;QA=12723;QR=14714;RO=474;RPL=276;RPP=31.6618;RPPR=19.5025;RPR=197;RUN=1;SAF=178;SAP=65.8545;SAR=295;SF=0;SRF=203;SRP=24.1936;SRR=271;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon9:c.C1323T:p.C441C,LDB3:NM_007078:exon9:c.C1653T:p.C551C,LDB3:NM_001171610:exon10:c.C1668T:p.C556C;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs45581435;Kaviar_AF=0.0004786;Kaviar_AC=74;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0.0014;ExAC_NFE=0.0012;ExAC_OTH=0.0015;ExAC_SAS=0;CLNALLELEID=54697;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0289;dpsi_zscore=0.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.068e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.893e-05;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=3.296e-05;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0051;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-673.566,0,-820.797:983:474:473:12723:14714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 88485931 . C T 12710.90 . AB=0.458796;ABP=28.2418;AC=2;AF=0.5;AN=4;AO=785;CIGAR=1X;DP=3295;DPB=1711;DPRA=0;EPP=4.2302;EPPR=3.90414;GTI=0;LEN=1;MEANALT=3;MQM=36.8064;MQMR=37.4812;NS=1;NUMALT=1;ODDS=3007.67;PAIRED=0.922293;PAIREDR=0.882554;PAO=0;PQA=0;PQR=0;PRO=0;QA=22290;QR=27073;RO=877;RPL=271;RPP=166.352;RPPR=187.546;RPR=514;RUN=1;SAF=447;SAP=35.8756;SAR=338;SF=0;SRF=485;SRP=24.4254;SRR=392;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon12:c.C1686T:p.C562C,LDB3:NM_007078:exon12:c.C2016T:p.C672C,LDB3:NM_001171610:exon13:c.C2031T:p.C677C;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0043;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0043;1000g2015aug_all=0.00139776;avsnp147=rs45578640;Kaviar_AF=0.0025744;Kaviar_AC=398;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0008;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0039;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=54704;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1397;dpsi_zscore=0.592;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0048;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0046;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1335.66,0,-1709.61:1711:877:785:22290:27073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1276.3,0,-1532.52:1584:779:762:21559:24164 . . . . . . . . . . . . . . . . . . . . . chr10 88492621 . C T 11684.00 . AB=0.468728;ABP=15.0976;AC=1;AF=0.5;AN=2;AO=667;CIGAR=1X;DP=1423;DPB=1423;DPRA=0;EPP=21.3229;EPPR=23.991;GTI=0;LEN=1;MEANALT=3;MQM=36.7241;MQMR=37.5147;NS=1;NUMALT=1;ODDS=2690.35;PAIRED=0.928036;PAIREDR=0.918654;PAO=0;PQA=0;PQR=0;PRO=0;QA=19689;QR=21970;RO=713;RPL=222;RPP=164.907;RPPR=72.4517;RPR=445;RUN=1;SAF=400;SAP=60.5983;SAR=267;SF=0;SRF=436;SRP=80.0047;SRR=277;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778790811;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.138e-05;ExAC_AFR=0;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.228e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1201.04,0,-1402.82:1423:713:667:19689:21970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 92675322 . G A 11339.51 . AB=0.438195;ABP=53.741;AC=2;AF=0.5;AN=4;AO=670;CIGAR=1X;DP=2791;DPB=1529;DPRA=0;EPP=5.9272;EPPR=15.9494;GTI=0;LEN=1;MEANALT=3;MQM=37.8194;MQMR=38.0325;NS=1;NUMALT=1;ODDS=2566.73;PAIRED=0.970149;PAIREDR=0.956195;PAO=0;PQA=0;PQR=0;PRO=0;QA=18640;QR=23935;RO=799;RPL=329;RPP=3.477;RPPR=6.33953;RPR=341;RUN=1;SAF=335;SAP=3.0103;SAR=335;SF=0,1;SRF=382;SRP=6.33953;SRR=417;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANKRD1:NM_014391:exon8:c.C827T:p.A276V;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=0.0042;esp6500siv2_ea=0.0058;esp6500siv2_all=0.0042;esp6500siv2_ea=0.0058;1000g2015aug_all=0.000199681;avsnp147=rs35550482;Kaviar_AF=0.0027749;Kaviar_AC=429;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0006;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0048;ExAC_OTH=0.0022;ExAC_SAS=0.0005;CLNALLELEID=54804;CLNDN=Primary_dilated_cardiomyopathy|Total_anomalous_pulmonary_venous_return|Primary_familial_hypertrophic_cardiomyopathy|ANKRD1-related_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN119551|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.613;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.273;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=0.1;FATHMM_pred=T;PROVEAN_score=-3.42;PROVEAN_pred=D;VEST3_score=0.753;CADD_raw=4.179;CADD_phred=23.8;DANN_score=0.992;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.789;MetaSVM_pred=T;MetaLR_score=0.142;MetaLR_pred=T;integrated_fitCons_score=0.628;integrated_confidence_value=0;GERP++_RS=5.41;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.808;phastCons20way_mammalian=0.130;SiPhy_29way_logOdds=12.531;GDI_full_10282015=.;dpsi_max_tissue=-0.0447;dpsi_zscore=-0.241;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM095438#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0027;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0207;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0035;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1125.73,0,-1547.48:1529:799:670:18640:23935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1235.51,0,-1267.24:1262:614:621:18754:19218:614,621 . . . . . . . chr10 92675649 . GAAAACG GAAACG 1964.39 . AB=0.396154;ABP=27.3642;AC=46;AF=0.5;AN=84;AO=103;CIGAR=1M1D1M;DP=13467;DPB=224;DPRA=0;EPP=18.3793;EPPR=12.937;GTI=0;LEN=1;MEANALT=17;MQM=35.932;MQMR=37.6667;NS=1;NUMALT=1;ODDS=247.413;PAIRED=0.970874;PAIREDR=0.992063;PAO=0;PQA=0;PQR=0;PRO=0;QA=2460;QR=3688;RO=126;RPL=76;RPP=53.6288;RPPR=46.0951;RPR=27;RUN=1;SAF=13;SAP=128.007;SAR=90;SF=0,1;SRF=17;SRP=148.878;SRR=109;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1575;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1575;1000g2015aug_all=0.178714;avsnp147=rs3839929;Kaviar_AF=0.0044243;Kaviar_AC=684;Kaviar_AN=154602;ExAC_ALL=0.1640;ExAC_AFR=0.2429;ExAC_AMR=0.1155;ExAC_EAS=0.1684;ExAC_FIN=0.1637;ExAC_NFE=0.1657;ExAC_OTH=0.1353;ExAC_SAS=0.1398;CLNALLELEID=198340;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1504;gnomAD_exome_AFR=0.2321;gnomAD_exome_AMR=0.1129;gnomAD_exome_ASJ=0.1021;gnomAD_exome_EAS=0.1541;gnomAD_exome_FIN=0.1500;gnomAD_exome_NFE=0.1591;gnomAD_exome_OTH=0.1388;gnomAD_exome_SAS=0.1352;gnomAD_genome_ALL=0.1800;gnomAD_genome_AFR=0.2187;gnomAD_genome_AMR=0.1360;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.1586;gnomAD_genome_FIN=0.1609;gnomAD_genome_NFE=0.1705;gnomAD_genome_OTH=0.1506;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-239.008:260:126:103:2460:3688 . . 0/1:.,.,-193.839:177:94:63:1447:2847 . . 0/1:.,.,-228.928:262:129:108:2404:3868 . . . . 0/1:.,.,-311.521:312:153:127:3171:4621 . 0/1:.,.,-181.303:258:101:123:2739:3044 0/1:.,.,-277.981:291:145:109:2594:4300 0/1:.,.,-388.565:458:201:204:4952:6053 . 1/1:.,.,0:667:22:600:14202:584 1/1:.,.,0:335:4:304:7288:135 . 0/1:.,.,-245.551:280:127:127:3112:3802 . 0/1:.,.,-206.866:201:104:77:1973:3129 . . . . . 0/1:.,.,-218.409:252:122:104:2505:3475 . . . . . . . . . . . . . . 0/1:.,.,-324.34:343:168:145:3518:4983 . . . . 0/1:.,.,-174.429:234:92:119:2771:2836 . . 0/1:.,.,-267.977:300:142:118:2582:4224 . 0/1:.,.,-347.527:374:194:139:3333:5622 0/1:.,.,-219.925:253:116:105:2484:3440 . . 0/1:.,.,-166.26:184:86:77:1777:2607 . 0/1:.,.,-334.148:426:181:199:4743:5508 . . . 0/1:.,.,-179.764:198:98:78:1723:2908 0/1:.,.,-297.949:301:151:115:2688:4465 0/1:.,.,-306.246:347:157:143:3263:4699 0/1:.,.,-161.54:179:86:74:1771:2605 . . 0/1:.,.,-314.974:376:169:152:3449:4954 0/1:.,.,-308.205:350:164:147:3405:4985 . . . . . . . . . . . . 0/1:.,.,-315.48:339:161:141:3177:4865 . . 0/1:.,.,-126.577:166:72:78:1727:2116 0/1:.,.,-328.154:375:174:161:3984:5217 0/1:.,.,-167.819:214:92:99:2389:2706 . 0/1:.,.,-438.897:413:225:157:3594:6686 0/1:.,.,-291.599:333:156:141:3183:4465 . 0/1:.,.,-380.789:399:196:171:3969:5905 . . 0/1:-284.254,0,-454.648:452:209:178:4542:6508:209,178 0/1:-232.919,0,-326.197:351:151:143:3641:4707:151,143 1/1:-802.064,-89.9913,0:426:7:356:9298:220:7,356 . . 0/1:-325.339,0,-270.436:390:133:195:4794:4208:133,195 0/1:-295.356,0,-215.654:328:113:170:4330:3483:113,170 0/1:-186.424,0,-314.42:340:146:132:3066:4545:146,132 . . . . . . 0/1:-229.744,0,-273.412:307:125:134:3487:3960:125,134 0/1:-219.218,0,-292.641:317:140:134:3423:4284:140,134 1/1:-703.505,-76.6579,0:386:7:314:8206:225:7,314 . 0/1:-206.01,0,-299.008:313:139:136:3270:4341:139,136 . chr10 92678738 . AAAATAAATAAATATATATATATATATATATATATAG AAAATATATATATATATATATATATATATATATAG,AAAATATATATATATATATATATATATAG 1270.01 . AB=0;ABP=0;AC=4,2;AF=1;AN=6;AO=41;CIGAR=6M1X2M2D26M;DP=579;DPB=339.162;DPRA=0;EPP=3.48696;EPPR=0;GTI=0;LEN=35;MEANALT=76;MQM=30.0976;MQMR=0;NS=1;NUMALT=1;ODDS=105.024;PAIRED=0.95122;PAIREDR=0;PAO=43.55;PQA=1273.35;PQR=2355.35;PRO=78.55;QA=1045;QR=0;RO=0;RPL=28;RPP=14.9269;RPPR=0;RPR=13;RUN=1;SAF=8;SAP=36.112;SAR=33;SF=1;SRF=0;SRP=0;SRR=0;TYPE=complex;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517250;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;ExAC_ALL=0.1838;ExAC_AFR=0.3784;ExAC_AMR=0.3143;ExAC_EAS=0.2641;ExAC_FIN=0.1161;ExAC_NFE=0.1255;ExAC_OTH=0.1525;ExAC_SAS=0.1698;CLNALLELEID=54796;CLNDN=Total_anomalous_pulmonary_venous_return|Cardiomyopathy|ANKRD1-related_dilated_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN119551|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1260;gnomAD_exome_AFR=0.4072;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0565;gnomAD_exome_EAS=0.2314;gnomAD_exome_FIN=0.0699;gnomAD_exome_NFE=0.0657;gnomAD_exome_OTH=0.0978;gnomAD_exome_SAS=0.1272;gnomAD_genome_ALL=0.0103;gnomAD_genome_AFR=0.0101;gnomAD_genome_AMR=0.0289;gnomAD_genome_ASJ=0.0128;gnomAD_genome_EAS=0.0058;gnomAD_genome_FIN=0.0233;gnomAD_genome_NFE=0.0093;gnomAD_genome_OTH=0.0116;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-187.965,-533.338,0,.,.,.:234:0:41,.:1045,.:0:0,41 2/2:-93.1886,.,.,-347.845,.,0:153:0:.,70:.,1112:0:0,70 . . . . . . 1/1:-130.495,-478.973,0,.,.,.:192:0:67,.:1602,.:0:0,67 . . . . . . . . . . chr10 92678740 . AATAAATAAATATATATATATATATATATATATAG AATATATATATATATATATATATATATATATATAG,AATATATATATATATAG,AATATATATAG,AATATATATATATATATATATATATATATATAG,AATATATGTATATATAG,AATATATATATATATATATATATATATAG 2152.73 . AB=0;ABP=0;AC=14,115,6,1,4,2;AF=1;AN=164;AO=165;CIGAR=1M18D1M;DP=42800;DPB=174.8;DPRA=0;EPP=3.33931;EPPR=3.73412;GTI=0;LEN=18;MEANALT=48;MQM=17.3576;MQMR=36;NS=1;NUMALT=1;ODDS=164.739;PAIRED=1;PAIREDR=1;PAO=2.5;PQA=69;PQR=380;PRO=12.5;QA=3051;QR=90;RO=3;RPL=69;RPP=12.6043;RPPR=3.73412;RPR=96;RUN=1;SAF=28;SAP=159.369;SAR=137;SF=0,1;SRF=0;SRP=9.52472;SRR=3;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs11272507;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.6044;ExAC_AFR=0.5463;ExAC_AMR=0.6736;ExAC_EAS=0.6456;ExAC_FIN=0.5899;ExAC_NFE=0.6051;ExAC_OTH=0.6198;ExAC_SAS=0.5607;CLNALLELEID=323868;CLNDN=Total_anomalous_pulmonary_venous_return|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5613;gnomAD_exome_AFR=0.4256;gnomAD_exome_AMR=0.6086;gnomAD_exome_ASJ=0.5264;gnomAD_exome_EAS=0.5513;gnomAD_exome_FIN=0.5675;gnomAD_exome_NFE=0.5747;gnomAD_exome_OTH=0.5658;gnomAD_exome_SAS=0.5168;gnomAD_genome_ALL=0.4624;gnomAD_genome_AFR=0.2823;gnomAD_genome_AMR=0.6261;gnomAD_genome_ASJ=0.5035;gnomAD_genome_EAS=0.3809;gnomAD_genome_FIN=0.6268;gnomAD_genome_NFE=0.5110;gnomAD_genome_OTH=0.5035;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751458325;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;ExAC_ALL=0.0832;ExAC_AFR=0.0451;ExAC_AMR=0.0446;ExAC_EAS=0.0010;ExAC_FIN=0.0706;ExAC_NFE=0.1055;ExAC_OTH=0.0607;ExAC_SAS=0.0642;CLNALLELEID=503859;CLNDN=Total_anomalous_pulmonary_venous_return|not_specified;CLNDISDB=Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_sco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TAAATAAATATATATATATATATATATATATAG TATATATATATATATATATATATATATATATAG,TATATATATATATATATATATATATAG 3675.38 . AB=0;ABP=0;AC=3,1;AF=1;AN=6;AO=199;CIGAR=2M1X3M1X1M;DP=817;DPB=236.875;DPRA=0;EPP=3.89417;EPPR=0;GTI=0;LEN=8;MEANALT=13;MQM=34.6181;MQMR=0;NS=1;NUMALT=1;ODDS=27.2286;PAIRED=0.79397;PAIREDR=0;PAO=13.6667;PQA=351;PQR=124;PRO=4.66667;QA=5016;QR=0;RO=0;RPL=196;RPP=409.468;RPPR=0;RPR=3;RUN=1;SAF=92;SAP=5.46548;SAR=107;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201258369;Kaviar_AF=0.0003881;Kaviar_AC=60;Kaviar_AN=154602;ExAC_ALL=0.1014;ExAC_AFR=0.1313;ExAC_AMR=0.0423;ExAC_EAS=0.0526;ExAC_FIN=0.0271;ExAC_NFE=0.0427;ExAC_OTH=0.1;ExAC_SAS=0.2261;CLNALLELEID=54797;CLNDN=Total_anomalous_pulmonary_venous_return|Cardiomyopathy|not_specified;CLNDISDB=Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0521;gnomAD_exome_AFR=0.1912;gnomAD_exome_AMR=0.0434;gnomAD_exome_ASJ=0.0305;gnomAD_exome_EAS=0.1141;gnomAD_exome_FIN=0.0475;gnomAD_exome_NFE=0.0303;gnomAD_exome_OTH=0.0358;gnomAD_exome_SAS=0.0664;gnomAD_genome_ALL=0.1205;gnomAD_genome_AFR=0.3060;gnomAD_genome_AMR=0.0799;gnomAD_genome_ASJ=0.0857;gnomAD_genome_EAS=0.2556;gnomAD_genome_FIN=0.0290;gnomAD_genome_NFE=0.0447;gnomAD_genome_OTH=0.0730;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:.,.,0,.,.,.:282:0:199,.:5016,.:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-303.249,.,.,0,.,-94.1549:229:73:.,63:.,1094:2276:73,63 . . . . . . 0/1:.,.,-261.377,.,.,.:306:131:117,.:3646,.:4003:131,117 chr10 92678744 . AATAAATATATATATATATATATATATATAG TATATATATATATATATATATATATATATAG,TATGTATATATATATATATATATATATATAG,TATAAATATATATATATATATATATATATAG 3863.43 . AB=0.503198;ABP=3.05197;AC=24,2,2;AF=0.5;AN=42;AO=236;CIGAR=1X3M1X;DP=9712;DPB=478.2;DPRA=0;EPP=5.3658;EPPR=4.44608;GTI=0;LEN=5;MEANALT=18;MQM=31.4915;MQMR=37.2896;NS=1;NUMALT=1;ODDS=630.386;PAIRED=0.90678;PAIREDR=0.945355;PAO=8;PQA=218;PQR=77;PRO=3;QA=6503;QR=5281;RO=183;RPL=200;RPP=250.485;RPPR=288.09;RPR=36;RUN=1;SAF=86;SAP=40.6982;SAR=150;SF=0,1;SRF=85;SRP=5.01565;SRR=98;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.810104;avsnp147=rs11595794;Kaviar_AF=0.0436799;Kaviar_AC=6753;Kaviar_AN=154602;ExAC_ALL=0.0196;ExAC_AFR=0.0226;ExAC_AMR=0.0145;ExAC_EAS=0.0085;ExAC_FIN=0;ExAC_NFE=0.0120;ExAC_OTH=0.0714;ExAC_SAS=0.0483;CLNALLELEID=140106;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6057;dpsi_zscore=-1.191;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0024;gnomAD_exome_EAS=0.0026;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0019;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0062;gnomAD_genome_AFR=0.0039;gnomAD_genome_AMR=0.0032;gnomAD_genome_ASJ=0.0109;gnomAD_genome_EAS=0.0008;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0083;gnomAD_genome_OTH=0.0100;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:.,.,-316.017,.,.,.,.,.,.,.:469:183:236,.,.:6503,.,.:5281 . . . . . 0/1:.,.,-557.158,.,.,.,.,.,.,.:608:291:193,.,.:5439,.,.:8367 . . . 0/2:.,.,.,.,.,-403.961,.,.,.,.:420:210:.,166,.:.,4461,.:6086 1/1:.,.,0,.,.,.,.,.,.,.:740:0:674,.,.:17652,.,.:0 . . . . . . . 1/1:.,.,0,.,.,.,.,.,.,.:363:1:309,.,.:8123,.,.:16 . . . . . . . . 1/1:.,.,0,.,.,.,.,.,.,.:634:3:516,.,.:14141,.,.:62 . . . . . . 0/1:.,.,-487.195,.,.,.,.,.,.,.:511:254:188,.,.:5263,.,.:7303 . . 0/2:.,.,.,.,.,-778.233,.,.,.,.:769:398:.,314,.:.,8616,.:11535 . . . 1/1:.,.,0,.,.,.,.,.,.,.:316:5:272,.,.:6937,.,.:140 . . . . . 0/3:.,.,.,.,.,.,.,.,.,-488.26:484:288:.,.,193:.,.,4870:7930 . . 0/1:.,.,-354.848,.,.,.,.,.,.,.:307:191:90,.,.:2368,.,.:5407 1/1:.,.,0,.,.,.,.,.,.,.:519:0:449,.,.:12044,.,.:0 . . . . 0/1:.,.,-343.956,.,.,.,.,.,.,.:316:176:105,.,.:2723,.,.:5148 . . 0/3:.,.,.,.,.,.,.,.,.,-546.734:435:288:.,.,145:.,.,3650:8133 . . . . . . . . . 0/1:.,.,-602.583,.,.,.,.,.,.,.:624:315:236,.,.:6725,.,.:9196 . . . . . . 1/1:.,.,0,.,.,.,.,.,.,.:425:2:293,.,.:8031,.,.:54 . . 0/1:.,.,-442.7,.,.,.,.,.,.,.:557:225:279,.,.:7334,.,.:6702 . . . . . . 0/1:.,.,-611.729,.,.,.,.,.,.,.:461:303:125,.,.:3518,.,.:8711 . . 0/1:-163.306,0,-74.2274,.,.,.,.,.,.,.:128:51:7,.,.:126,.,.:1545:51,7 . . . . . . . . . . . . . . 0/1:.,.,-362.908,.,.,.,.,.,.,.:425:180:202,.,.:6202,.,.:5551:180,202 1/1:.,.,0,.,.,.,.,.,.,.:201:0:195,.,.:5840,.,.:0:0,195 . . . chr10 92678748 . A T 364.81 . AB=0.287059;ABP=170.398;AC=1;AF=0.5;AN=2;AO=122;CIGAR=1X;DP=425;DPB=425;DPRA=0;EPP=5.57335;EPPR=4.2295;GTI=0;LEN=1;MEANALT=2;MQM=26.7049;MQMR=33.0498;NS=1;NUMALT=1;ODDS=84.0009;PAIRED=0.844262;PAIREDR=0.900332;PAO=0;PQA=0;PQR=0;PRO=0;QA=2992;QR=8387;RO=301;RPL=117;RPP=226.28;RPPR=255.283;RPR=5;RUN=1;SAF=50;SAP=11.625;SAR=72;SF=0;SRF=111;SRP=48.0341;SRR=190;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.784545;avsnp147=rs10881854;Kaviar_AF=0.0038874;Kaviar_AC=601;Kaviar_AN=154602;ExAC_ALL=0.0561;ExAC_AFR=0.0341;ExAC_AMR=0.0176;ExAC_EAS=0.0455;ExAC_FIN=0.008;ExAC_NFE=0.0429;ExAC_OTH=0.1061;ExAC_SAS=0.0980;CLNALLELEID=140105;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0581;dpsi_zscore=-1.504;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0028;gnomAD_exome_ASJ=0.0149;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0092;gnomAD_exome_NFE=0.0085;gnomAD_exome_OTH=0.0072;gnomAD_exome_SAS=0.0097;gnomAD_genome_ALL=0.0568;gnomAD_genome_AFR=0.0727;gnomAD_genome_AMR=0.0237;gnomAD_genome_ASJ=0.0451;gnomAD_genome_EAS=0.0370;gnomAD_genome_FIN=0.0068;gnomAD_genome_NFE=0.0626;gnomAD_genome_OTH=0.0498;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-88.635,0,-502.448:425:301:122:2992:8387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 92678760 . TAT GAG 30.89 . AB=0.266106;ABP=172.647;AC=1;AF=0.5;AN=2;AO=95;CIGAR=1X1M1X;DP=357;DPB=359.333;DPRA=0;EPP=22.2335;EPPR=9.98749;GTI=0;LEN=3;MEANALT=12;MQM=21.6;MQMR=18.9713;NS=1;NUMALT=1;ODDS=7.11137;PAIRED=0.894737;PAIREDR=1;PAO=3;PQA=96;PQR=28;PRO=2;QA=2619;QR=7889;RO=244;RPL=95;RPP=209.3;RPPR=3.33068;RPR=0;RUN=1;SAF=33;SAP=22.2335;SAR=62;SF=0;SRF=51;SRP=182.459;SRR=193;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-55.7622,0,-298.355:357:244:95:2619:7889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 92678765 . A G 2662.98 . AB=0.546296;ABP=9.04217;AC=97;AF=0.5;AN=154;AO=177;CIGAR=1X;DP=34589;DPB=324;DPRA=0;EPP=64.8543;EPPR=68.0775;GTI=0;LEN=1;MEANALT=3;MQM=18.7458;MQMR=16.9362;NS=1;NUMALT=1;ODDS=186.918;PAIRED=1;PAIREDR=0.992908;PAO=0;PQA=0;PQR=0;PRO=0;QA=5497;QR=4776;RO=141;RPL=106;RPP=18.0389;RPPR=26.4345;RPR=71;RUN=1;SAF=34;SAP=148.769;SAR=143;SF=0,1;SRF=33;SRP=89.6382;SRR=108;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.441094;avsnp147=rs56177217;Kaviar_AF=0.428274;Kaviar_AC=66212;Kaviar_AN=154602;ExAC_ALL=0.6476;ExAC_AFR=0.4909;ExAC_AMR=0.7010;ExAC_EAS=0.6559;ExAC_FIN=0.6581;ExAC_NFE=0.6758;ExAC_OTH=0.6380;ExAC_SAS=0.5534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5026;dpsi_zscore=1.135;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6224;gnomAD_exome_AFR=0.3890;gnomAD_exome_AMR=0.6603;gnomAD_exome_ASJ=0.5918;gnomAD_exome_EAS=0.5396;gnomAD_exome_FIN=0.6281;gnomAD_exome_NFE=0.6641;gnomAD_exome_OTH=0.6230;gnomAD_exome_SAS=0.5666;gnomAD_genome_ALL=0.4635;gnomAD_genome_AFR=0.2469;gnomAD_genome_AMR=0.6437;gnomAD_genome_ASJ=0.5070;gnomAD_genome_EAS=0.3354;gnomAD_genome_FIN=0.6583;gnomAD_genome_NFE=0.5462;gnomAD_genome_OTH=0.5168;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-171.891,0,-106.351:324:141:177:5497:4776 1/1:-792.714,-155.25,0:557:8:534:17192:261 0/1:-174.121,0,-901.631:662:424:231:7295:13828 . 0/1:-215.178,0,-702.773:618:352:260:8624:11565 1/1:-765.201,-142.448,0:541:11:518:16223:332 . 0/1:-210.537,0,-602.833:561:292:258:8270:9500 0/1:-188.868,0,-337.968:423:216:206:6625:6817 0/1:-204.907,0,-607.96:574:309:260:8387:9934 0/1:-210.737,0,-608.655:573:308:252:8174:9876 0/1:-254.985,0,-140.578:444:183:254:8367:6069 . 0/1:-162.771,0,-19.8232:209:39:162:5015:1182 0/1:-207.448,0,-92.9233:324:125:198:6165:4021 0/1:-319.785,0,-120.523:511:199:304:9735:6573 0/1:-103.833,0,-437.931:375:227:143:4476:7094 . . 1/1:-483.174,-91.5484,0:353:8:336:10536:234 0/1:-165.511,0,-107.64:338:140:192:6042:4671 0/1:-255.315,0,-501.006:631:327:294:9511:10387 0/1:-134.578,0,-27.8009:189:43:140:4456:1225 0/1:-233.296,0,-441.805:566:297:265:8493:9459 0/1:-251.1,0,-785.077:657:371:275:8970:12184 . 1/1:-700.832,-128.125,0:496:12:472:15286:369 0/1:-211,0,-687.657:596:336:253:7996:10937 0/1:-149.034,0,-23.5423:262:92:165:5293:2922 0/1:-129.295,0,-274.489:323:174:144:4504:5577 0/1:-126.754,0,-598.518:504:302:191:5916:9532 0/1:-271.996,0,-851.8:740:420:307:9954:13692 0/1:-214.469,0,-449.394:553:307:241:7866:9595 1/1:-397.365,-63.7027,0:266:7:255:8069:231 . . 0/1:-185.742,0,-177.47:288:115:167:5500:3769 1/1:-679.563,-127.893,0:470:8:459:14632:209 1/1:-675.681,-122.35,0:454:8:437:13969:205 . 1/1:-847.234,-161.419,0:594:10:573:18572:258 . 0/1:-200.701,0,-556.153:496:274:221:7395:8859 0/1:-281.835,0,-108.974:421:165:246:7798:5522 0/1:-209.212,0,-827.544:647:391:251:7941:12764 0/1:-209.645,0,-603.409:550:304:236:7777:9841 0/1:-181.251,0,-645.898:566:314:243:7680:10178 0/1:-97.3546,0,-444.882:352:212:131:4201:6953 . . 1/1:-757.559,-141.653,0:548:15:526:16906:396 0/1:-222.7,0,-28.5493:307:68:237:7331:1901 1/1:-826.287,-155.081,0:554:9:535:17060:233 0/1:-261.145,0,-23.8473:337:67:258:8130:1832 . 0/1:-191.262,0,-272.196:383:180:199:6437:5822 0/1:-273.223,0,-366.709:549:263:283:8874:8336 . . . . 1/1:-849.33,-161.989,0:600:11:573:18460:305 0/1:-161.459,0,-563.866:478:269:206:6574:8810 . 0/1:-245.076,0,-159.734:454:199:248:7590:6625 0/1:-224.814,0,-306.792:465:215:248:7814:6779 . 0/1:-153.261,0,-490.815:512:305:197:6249:9737 0/1:-195.36,0,-489.207:467:243:218:6953:7915 0/1:-266.997,0,-122.086:420:159:251:8023:5372 0/1:-245.144,0,-140.381:420:177:238:7506:5892 0/1:-259.172,0,-411.133:544:261:274:8963:8326 . 1/1:-429.77,-88.3772,0:331:11:312:9773:293 0/1:-125.865,0,-492.387:413:239:167:5353:7892 0/1:-291.508,0,-402.043:543:257:282:8950:8208 . 0/1:-245.476,0,-444.574:584:297:277:8765:9522 1/1:-533.734,-96.0679,0:345:5:334:10677:148 0/1:-174.131,0,-34.4513:213:47:163:5137:1388 1/1:-718.059,-140.986,0:516:11:495:15694:314 0/1:-249.581,0,-449.399:565:298:260:8360:9495 0/1:-296.875,0,-778.4:700:386:308:9895:12616 . 1/1:-651.907,-123.817,0:469:12:441:13705:360 0/1:-254.296,0,-482.749:528:258:266:8478:8416 . 0/1:-359.128,0,-35.2021:374:79:286:9218:2306 0/1:-144.314,0,-29.9743:163:37:120:3883:1113 1/1:-637.405,-107.938,0:458:14:429:13629:409 0/1:-339.821,0,-43.6375:380:75:294:9401:2173 0/1:-220.384,0,-118.571:387:159:221:6937:5171 0/1:-297.588,0,-781.854:696:382:306:9906:12520 . . . . . . 0/1:-123.818,0,-325.4:273:157:115:3790:4983:157,115 1/1:-383.137,-60.4516,0:275:14:255:8331:460:14,255 0/1:-192.743,0,-19.6323:190:44:143:4741:1244:44,143 . . 1/1:-481.882,-85.1042,0:322:7:309:9993:192:7,309 . . 0/1:-83.868,0,-250.525:257:146:108:3436:4704:146,108 . 1/1:-412.495,-69.9987,0:272:4:257:8532:114:4,257 . . . 1/1:-453.95,-78.0699,0:289:6:283:9382:160:6,283 . . chr10 101473218 . A G 10431.16 . AB=0;ABP=0;AC=199;AF=1;AN=226;AO=476;CIGAR=1X;DP=59668;DPB=497;DPRA=0;EPP=125.708;EPPR=13.8677;GTI=0;LEN=1;MEANALT=3;MQM=39.1996;MQMR=23.2;NS=1;NUMALT=1;ODDS=635.449;PAIRED=0.978992;PAIREDR=0.6;PAO=0;PQA=0;PQR=0;PRO=0;QA=13471;QR=130;RO=5;RPL=131;RPP=211.928;RPPR=6.91895;RPR=345;RUN=1;SAF=237;SAP=3.02855;SAR=239;SF=0,1;SRF=1;SRP=6.91895;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=COX15:NM_004376:exon9:c.T1120C:p.F374L;cytoBand=10q24.2;genomicSuperDups=.;esp6500siv2_all=0.8348;esp6500siv2_ea=0.8733;esp6500siv2_all=0.8348;esp6500siv2_ea=0.8733;1000g2015aug_all=0.827077;avsnp147=rs2231687;Kaviar_AF=0.843488;Kaviar_AC=130405;Kaviar_AN=154602;ExAC_ALL=0.8610;ExAC_AFR=0.7618;ExAC_AMR=0.8993;ExAC_EAS=0.7743;ExAC_FIN=0.8872;ExAC_NFE=0.8737;ExAC_OTH=0.8717;ExAC_SAS=0.8797;CLNALLELEID=134284;CLNDN=Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified;CLNDISDB=MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=0.62;PROVEAN_pred=N;VEST3_score=0.013;CADD_raw=0.914;CADD_phred=10.16;DANN_score=0.868;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.050;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=0.947;phyloP7way_vertebrate=0.423;phyloP20way_mammalian=0.854;phastCons7way_vertebrate=0.391;phastCons20way_mammalian=0.252;SiPhy_29way_logOdds=3.913;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8646;gnomAD_exome_AFR=0.7603;gnomAD_exome_AMR=0.8989;gnomAD_exome_ASJ=0.8367;gnomAD_exome_EAS=0.7760;gnomAD_exome_FIN=0.8888;gnomAD_exome_NFE=0.8763;gnomAD_exome_OTH=0.8701;gnomAD_exome_SAS=0.8776;gnomAD_genome_ALL=0.8426;gnomAD_genome_AFR=0.7607;gnomAD_genome_AMR=0.8849;gnomAD_genome_ASJ=0.8278;gnomAD_genome_EAS=0.7862;gnomAD_genome_FIN=0.8857;gnomAD_genome_NFE=0.8814;gnomAD_genome_OTH=0.8834;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1157.14,-138.08,0:497:5:476:13471:130 1/1:-1586.28,-186.675,0:692:7:657:18759:160 0/1:-484.113,0,-734.954:626:341:276:7810:10637 0/1:-339.516,0,-383.994:392:197:184:5317:5921 1/1:-1505.72,-180.087,0:650:4:621:17693:91 1/1:-1618.39,-190.886,0:703:8:670:19001:160 1/1:-1126.25,-116.211,0:495:12:460:13358:311 0/1:-486.126,0,-671.904:591:314:269:7705:9877 1/1:-1182.94,-144.651,0:505:1:489:13762:32 1/1:-1485.66,-177.15,0:640:4:610:17223:95 1/1:-1191.06,-141.732,0:506:2:480:13884:46 1/1:-1300.75,-151.278,0:542:3:526:15114:90 1/1:-1228.52,-146.392,0:518:2:499:14323:50 1/1:-1024.73,-126.608,0:453:4:431:11916:56 0/1:-480.792,0,-500.531:506:247:243:7237:7556 1/1:-2008.43,-242.028,0:830:0:804:23248:0 0/1:-307.109,0,-476.961:439:234:191:5192:7081 0/1:-978.617,0,-1203.42:1108:565:524:15096:17951 1/1:-1421.14,-169.847,0:602:2:576:16630:48 1/1:-897.405,-106.312,0:394:4:371:10551:107 0/1:-351.47,0,-440.394:411:213:189:5504:6448 1/1:-1708.25,-203.797,0:704:0:677:19748:0 0/1:-318.359,0,-382.294:383:187:185:5065:5846 1/1:-1588.54,-184.234,0:667:3:633:18346:82 0/1:-555.487,0,-650.68:646:321:313:8644:9904 1/1:-1042.12,-130.504,0:459:1:442:12271:32 1/1:-1330.11,-156.081,0:544:1:528:15355:36 0/1:-603.73,0,-617.261:657:304:331:9263:9336 1/1:-1086.26,-124.349,0:483:7:454:12824:164 1/1:-992.069,-111.276,0:403:3:386:11485:77 1/1:-1282.39,-146.996,0:552:5:527:15034:148 1/1:-1573.28,-191.943,0:668:1:639:18239:32 0/1:-628.566,0,-651.211:674:322:339:9699:9961 1/1:-1050.97,-119.926,0:451:5:433:12356:136 1/1:-1496.09,-180.493,0:642:2:612:17573:50 1/1:-1369.66,-163.955,0:599:4:570:16059:100 1/1:-1035.13,-124.78,0:444:2:423:12159:41 1/1:-1499.42,-179.414,0:623:0:596:17360:0 1/1:-1363.56,-153.294,0:584:8:554:16113:191 1/1:-930.553,-113.078,0:392:1:377:10762:27 1/1:-1631.83,-196.764,0:687:2:660:18885:28 1/1:-1137.43,-136.244,0:500:3:469:13394:67 0/1:-533.706,0,-589.918:578:287:278:8170:8730 1/1:-1423.52,-169.266,0:603:3:582:16544:77 1/1:-1605.16,-190.814,0:673:2:647:18665:63 1/1:-1480.75,-172.136,0:622:4:599:17228:105 1/1:-1314.19,-164.717,0:560:1:547:15287:14 1/1:-876.078,-104.466,0:378:2:364:10184:64 1/1:-1032.27,-124.526,0:440:2:426:12007:48 0/1:-631.077,0,-769.598:720:364:347:9778:11516 1/1:-1555.12,-188.328,0:652:2:630:18061:35 1/1:-1301.82,-163.204,0:572:3:543:15235:64 1/1:-1614.26,-194.906,0:668:1:657:18824:36 1/1:-1489.76,-180.497,0:633:3:609:17441:42 1/1:-935.009,-116.8,0:403:0:388:10828:0 1/1:-1095.01,-127.588,0:471:6:448:12733:150 1/1:-1487.25,-175.143,0:624:3:599:17402:71 0/1:-337.367,0,-427.363:407:204:185:5278:6436 1/1:-951.94,-117.391,0:408:1:393:11069:14 1/1:-1185.25,-143.773,0:523:2:494:13967:63 0/1:-391.05,0,-398.362:417:199:211:6075:6155 1/1:-1626.69,-201.334,0:708:1:672:18928:14 1/1:-1050.73,-120.31,0:442:5:420:12157:150 1/1:-871.423,-105.572,0:378:3:365:10187:71 0/1:-638.522,0,-675.476:690:331:334:9838:10183 1/1:-1569.01,-189.802,0:670:3:642:18228:49 0/1:-260.481,0,-339.253:327:169:150:4229:5166 1/1:-1437.61,-173.95,0:611:3:588:16703:64 0/1:-316.666,0,-489.837:431:238:185:5181:7144 1/1:-1492.32,-181.466,0:634:1:606:17499:14 0/1:-501.673,0,-528.079:550:268:272:7721:8048 1/1:-1859.5,-207.886,0:776:8:740:21759:195 1/1:-1566.09,-182.656,0:651:2:622:18214:68 1/1:-1005.22,-129.383,0:465:3:444:11839:67 . 1/1:-1528.2,-187.241,0:645:0:622:17817:0 0/1:-574.848,0,-669.851:637:321:305:8763:9992 . 1/1:-1041.61,-126.476,0:436:2:423:12041:28 0/1:-328.035,0,-408.787:390:197:188:5091:6058 1/1:-1514.18,-178.211,0:636:2:611:17556:72 1/1:-1504.21,-174.189,0:635:5:606:17533:110 1/1:-1577.83,-184.269,0:664:5:642:18502:121 1/1:-1090.67,-128.551,0:472:2:445:12762:68 0/1:-377.823,0,-393.938:408:197:199:5800:6097 1/1:-1272.25,-147.214,0:532:2:507:14714:68 1/1:-1031.78,-120.872,0:429:1:410:11878:32 1/1:-1415.29,-169.165,0:623:3:584:16470:86 1/1:-696.044,-86.3748,0:302:1:290:8118:14 1/1:-1508.89,-184.137,0:659:3:629:17625:78 1/1:-1853.58,-221.227,0:773:2:741:21307:28 1/1:-1204.17,-147.204,0:520:1:495:13916:32 1/1:-1812.91,-209.173,0:744:3:716:21009:82 1/1:-1403.33,-166.602,0:593:2:566:16272:50 1/1:-1461.27,-177.553,0:619:1:593:16925:14 . 1/1:-1114.94,-120.213,0:420:2:411:12877:46:2,411 1/1:-994.454,-107.8,0:385:2:376:11543:68:2,376 0/1:-428.395,0,-501.077:436:229:203:6422:7276:229,203 1/1:-676.234,-72.6675,0:257:1:251:7775:36:1,251 1/1:-875.556,-97.5337,0:330:0:324:10012:0:0,324 1/1:-1143.39,-122.521,0:437:4:427:13189:100:4,427 1/1:-1047.32,-110.044,0:408:4:393:12074:107:4,393 0/1:-483.722,0,-413.994:429:198:224:7036:6269:198,224 0/1:-387.155,0,-354.629:362:168:183:5646:5304:168,183 1/1:-1065.43,-115.74,0:406:1:394:12307:36:1,394 1/1:-942.077,-99.2301,0:367:4:354:11020:96:4,354 0/1:-357.882,0,-293.862:306:138:162:5100:4420:138,162 1/1:-752.414,-81.1297,0:287:1:278:8659:32:1,278 1/1:-1110.82,-122.208,0:413:1:409:12842:14:1,409 1/1:-849.669,-92.8036,0:332:2:321:9942:50:2,321 1/1:-862.007,-94.6571,0:331:1:324:9938:36:1,324 1/1:-1210.04,-132.295,0:459:2:448:13860:41:2,448 1/1:-903.627,-96.7469,0:348:2:338:10424:63:2,338 1/1:-895.291,-98.2651,0:339:1:335:10344:32:1,335 0/1:-445.449,0,-297.333:352:145:204:6310:4629:145,204 chr10 101473302 . A G 6696.70 . AB=0.458777;ABP=14.1102;AC=1;AF=0.5;AN=2;AO=345;CIGAR=1X;DP=752;DPB=752;DPRA=0;EPP=9.05895;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.6812;MQMR=39.505;NS=1;NUMALT=1;ODDS=1541.97;PAIRED=0.97971;PAIREDR=0.97;PAO=0;PQA=0;PQR=0;PRO=0;QA=10605;QR=12506;RO=400;RPL=214;RPP=46.3705;RPPR=135.123;RPR=131;RUN=1;SAF=138;SAP=32.9766;SAR=207;SF=0;SRF=148;SRP=61.7269;SRR=252;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=COX15;GeneDetail.refGene=NM_078470:c.*1042T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q24.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-686.165,0,-839.379:752:400:345:10605:12506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 101474340 . A C 8906.50 . AB=0.496614;ABP=3.09853;AC=1;AF=0.5;AN=2;AO=440;CIGAR=1X;DP=886;DPB=886;DPRA=0;EPP=3.18797;EPPR=3.18716;GTI=0;LEN=1;MEANALT=3;MQM=39.9227;MQMR=40.1403;NS=1;NUMALT=1;ODDS=2050.8;PAIRED=0.943182;PAIREDR=0.950226;PAO=0;PQA=0;PQR=0;PRO=0;QA=13869;QR=13993;RO=442;RPL=99;RPP=292.033;RPPR=169.339;RPR=341;RUN=1;SAF=240;SAP=10.9066;SAR=200;SF=1;SRF=255;SRP=25.7272;SRR=187;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=COX15;GeneDetail.refGene=NM_078470:c.*4T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q24.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774848108;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.242e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.104e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.162e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-929.782,0,-935.934:886:442:440:13869:13993:442,440 . . . . . . . . . . . . . chr10 101474499 . T C 10254.83 . AB=0.452229;ABP=24.7942;AC=48;AF=0.5;AN=84;AO=497;CIGAR=1X;DP=39165;DPB=1099;DPRA=0;EPP=10.3549;EPPR=47.8786;GTI=0;LEN=1;MEANALT=3;MQM=37.8249;MQMR=38.273;NS=1;NUMALT=1;ODDS=2071.08;PAIRED=0.93159;PAIREDR=0.913043;PAO=0;PQA=0;PQR=0;PRO=0;QA=14744;QR=17393;RO=575;RPL=289;RPP=31.6764;RPPR=18.9659;RPR=208;RUN=1;SAF=256;SAP=3.99336;SAR=241;SF=0,1;SRF=316;SRP=15.2801;SRR=259;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q24.2;genomicSuperDups=.;esp6500siv2_all=0.2611;esp6500siv2_ea=0.2957;esp6500siv2_all=0.2611;esp6500siv2_ea=0.2957;1000g2015aug_all=0.233427;avsnp147=rs11190255;Kaviar_AF=0.256614;Kaviar_AC=39673;Kaviar_AN=154602;ExAC_ALL=0.2572;ExAC_AFR=0.1868;ExAC_AMR=0.2105;ExAC_EAS=0.2953;ExAC_FIN=0.3486;ExAC_NFE=0.2828;ExAC_OTH=0.2384;ExAC_SAS=0.1758;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2591;gnomAD_exome_AFR=0.1879;gnomAD_exome_AMR=0.2167;gnomAD_exome_ASJ=0.1489;gnomAD_exome_EAS=0.3027;gnomAD_exome_FIN=0.3523;gnomAD_exome_NFE=0.2904;gnomAD_exome_OTH=0.2475;gnomAD_exome_SAS=0.1773;gnomAD_genome_ALL=0.2827;gnomAD_genome_AFR=0.1904;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.1477;gnomAD_genome_EAS=0.3205;gnomAD_genome_FIN=0.3370;gnomAD_genome_NFE=0.3256;gnomAD_genome_OTH=0.3071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-912.347,0,-1129.51:1099:575:497:14744:17393 . 0/1:-463.209,0,-658.242:612:329:267:7743:9980 . . 0/1:-764.144,0,-789.444:821:385:415:12131:12141 . . . . 0/1:-914.643,0,-790.443:893:408:465:13866:12433 . . . 0/1:-1079.04,0,-1363.97:1283:665:581:17126:20614 0/1:-686.204,0,-665.219:769:362:391:11376:10914 . . 0/1:-654.28,0,-692.362:749:354:368:10896:11027 . . 0/1:-489.143,0,-647.397:635:332:287:8192:10115 0/1:-1012.3,0,-1082.36:1121:559:542:16085:17027 0/1:-822.577,0,-1005.84:978:503:452:13115:15347 . . . 0/1:-564.491,0,-752.475:729:380:328:9334:11550 0/1:-652.01,0,-633.244:668:321:326:9961:9922 0/1:-720.074,0,-776.866:789:389:374:11108:11913 . . . 0/1:-814.89,0,-1169.55:1048:556:456:13298:17341 0/1:-909.35,0,-1056.02:1047:526:492:14626:16223 0/1:-576.284,0,-672.437:684:340:320:9261:10384 . 0/1:-743.899,0,-954.019:943:489:430:12351:14921 . . . 0/1:-733.657,0,-955.969:889:474:394:11944:14538 1/1:-2284.07,-251.402,0:978:14:952:27747:447 . . 1/1:-2282.04,-263.795,0:956:9:936:27851:254 . 0/1:-621.195,0,-877.338:785:420:348:10066:13208 . 1/1:-2306.3,-262.36,0:985:12:956:28100:361 . 0/1:-1037.06,0,-1064.33:1095:521:539:15910:16361 . . . 0/1:-995.386,0,-876.184:977:450:507:15285:13859 . . . . 0/1:-1037.28,0,-1299.06:1239:638:559:16644:19840 1/1:-1913.71,-196.737,0:802:16:771:23333:475 . . 0/1:-975.769,0,-971.376:1015:486:505:15239:15083 . . . . . . 0/1:-995.14,0,-972.712:1056:500:528:15488:15353 0/1:-450.175,0,-630.798:632:332:281:8002:10003 . 1/1:-2587.19,-292.393,0:1100:13:1059:31434:372 0/1:-899.506,0,-1141.31:1075:558:484:14235:17442 . 0/1:-669.65,0,-560.888:652:287:352:10172:9002 . . 1/1:-2424.56,-274.539,0:1011:9:987:28980:286 . 0/1:-702.426,0,-987.075:900:485:393:11767:14913 . . 0/1:-673.79,0,-842.876:805:417:362:10867:12796 . . 0/1:-856.911,0,-952.884:988:496:464:13550:14666 . . 0/1:-1140.37,0,-1198.93:1270:606:612:17818:18700 . . . 0/1:-1045.35,0,-953.143:945:446:490:15435:14243:446,490 . 0/1:-1154.12,0,-1284.86:1134:577:544:17263:18721:577,544 . . . . . . . . . . . 0/1:-1022.61,0,-1067.98:1010:505:494:15415:15868:505,494 . 0/1:-1141.15,0,-1246.37:1163:588:553:17278:18490:588,553 . 0/1:-835.284,0,-979.209:835:439:391:12571:14128:439,391 . chr10 101491829 . C A 6857.48 . AB=0.464464;ABP=13.9676;AC=1;AF=0.5;AN=2;AO=464;CIGAR=1X;DP=999;DPB=999;DPRA=0;EPP=18.7535;EPPR=50.0069;GTI=0;LEN=1;MEANALT=3;MQM=34.5302;MQMR=33.6087;NS=1;NUMALT=1;ODDS=1578.99;PAIRED=0.864224;PAIREDR=0.862004;PAO=0;PQA=0;PQR=0;PRO=0;QA=12899;QR=16262;RO=529;RPL=338;RPP=213.344;RPPR=207.141;RPR=126;RUN=1;SAF=163;SAP=92.1343;SAR=301;SF=0;SRF=200;SRP=71.3193;SRR=329;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=COX15;GeneDetail.refGene=NM_004376:c.-23G>T,NM_078470:c.-23G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q24.2;genomicSuperDups=.;esp6500siv2_all=0.0076;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0076;esp6500siv2_ea=0.0005;1000g2015aug_all=0.00638978;avsnp147=rs2231678;Kaviar_AF=0.0020375;Kaviar_AC=315;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0293;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0016;ExAC_SAS=7.739e-05;CLNALLELEID=140714;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0229;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0019;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0071;gnomAD_genome_AFR=0.0246;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-726.95,0,-958.253:999:529:464:12899:16262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 112404302 . GGCGT AGCGT 1594.18 . AB=0.306306;ABP=75.3536;AC=35;AF=0.5;AN=58;AO=68;CIGAR=1X;DP=8143;DPB=222;DPRA=0;EPP=6.20364;EPPR=56.4144;GTI=0;LEN=1;MEANALT=3;MQM=26.3088;MQMR=28.6341;NS=1;NUMALT=1;ODDS=101.252;PAIRED=0.764706;PAIREDR=0.764228;PAO=0;PQA=0;PQR=0;PRO=0;QA=1612;QR=3325;RO=123;RPL=34;RPP=3.0103;RPPR=10.7958;RPR=34;RUN=1;SAF=25;SAP=13.3567;SAR=43;SF=0,1;SRF=60;SRP=3.16919;SRR=63;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon1:c.G90A:p.R30R;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.222244;avsnp147=rs35141404;Kaviar_AF=0.0450188;Kaviar_AC=6960;Kaviar_AN=154602;ExAC_ALL=0.1522;ExAC_AFR=0.436;ExAC_AMR=0.1694;ExAC_EAS=0.1449;ExAC_FIN=0.4;ExAC_NFE=0.1372;ExAC_OTH=0.1271;ExAC_SAS=0.1378;CLNALLELEID=53197;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1426;gnomAD_exome_AFR=0.4067;gnomAD_exome_AMR=0.1037;gnomAD_exome_ASJ=0.1038;gnomAD_exome_EAS=0.1679;gnomAD_exome_FIN=0.1014;gnomAD_exome_NFE=0.1492;gnomAD_exome_OTH=0.1461;gnomAD_exome_SAS=0.1457;gnomAD_genome_ALL=0.2008;gnomAD_genome_AFR=0.3736;gnomAD_genome_AMR=0.1175;gnomAD_genome_ASJ=0.12;gnomAD_genome_EAS=0.1576;gnomAD_genome_FIN=0.0999;gnomAD_genome_NFE=0.1394;gnomAD_genome_OTH=0.1340;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:.,.,-170.388:222:123:68:1612:3325 0/1:.,.,-144.474:222:109:83:1978:2831 0/1:.,.,-170.582:284:138:110:2687:3757 . . . . . 0/1:.,.,-123.551:260:106:113:2537:2823 . 0/1:.,.,-204.569:274:141:89:2067:4069 . 0/1:.,.,-149.092:172:101:56:1439:3063 1/1:.,.,0:241:16:188:5027:298 . . . . . 0/1:.,.,-129.646:152:78:66:1717:2362 . . . . . . . . . . . . . 0/1:.,.,-202.767:302:154:110:2577:4200 . 0/1:.,.,-161.217:235:115:100:2315:3415 . . . 1/1:.,.,0:252:10:191:4332:227 . 1/1:.,.,0:226:22:164:3939:401 . 0/1:.,.,-108.013:127:66:48:1243:2062 . . . 0/1:.,.,-309.73:370:209:116:2629:5897 . . . . 0/1:.,.,-136.967:193:111:61:1476:2911 1/1:.,.,0:324:15:236:5252:249 . . . . . . . . . . 0/1:.,.,-56.1845:104:58:35:794:1550 0/1:.,.,-149.901:171:92:57:1341:2663 . . 0/1:.,.,-180.268:288:149:101:2457:3941 . . 0/1:.,.,-99.175:168:89:56:1392:2514 . . . 1/1:.,.,0:399:7:291:6555:134 . . 0/1:.,.,-213.618:352:178:123:2636:4880 . . . 0/1:.,.,-68.8377:147:59:67:1582:1660 . . 0/1:.,.,-188.597:242:129:79:1914:3522 . . . . . . . . . . . . . 0/1:.,.,-725.129:592:360:207:5901:11043:360,207 . . . . . 0/1:.,.,-446.005:447:239:193:5380:7175:239,193 1/1:-707.39,-120.37,0:407:2:320:8239:72:2,320 . . . . 0/1:.,.,-491.135:448:250:175:4864:7799:250,175 . 0/1:.,.,-572.141:522:293:215:6371:9076:293,215 chr10 112540883 . ACCCCCCA ACCCCCCCA 1201.83 . AB=0.267114;ABP=353.97;AC=1;AF=0.5;AN=2;AO=199;CIGAR=1M1I7M;DP=745;DPB=785.25;DPRA=0;EPP=105.681;EPPR=128.918;GTI=0;LEN=1;MEANALT=120;MQM=28.0653;MQMR=33.0801;NS=1;NUMALT=1;ODDS=276.732;PAIRED=0.78392;PAIREDR=0.850174;PAO=9.5;PQA=226;PQR=226;PRO=9.5;QA=4167;QR=8731;RO=287;RPL=146;RPP=97.3875;RPPR=68.4496;RPR=53;RUN=1;SAF=10;SAP=352.639;SAR=189;SF=0;SRF=82;SRP=117.478;SRR=205;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=RBM20:NM_001134363:exon2:c.517dupC:p.S172fs;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-193.59,0,-511.329:745:287:199:4167:8731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 112541062 . G A 7221.34 . AB=0.455084;ABP=20.7615;AC=1;AF=0.5;AN=2;AO=461;CIGAR=1X;DP=1013;DPB=1013;DPRA=0;EPP=19.407;EPPR=33.9549;GTI=0;LEN=1;MEANALT=3;MQM=34.5857;MQMR=34.6963;NS=1;NUMALT=1;ODDS=1662.78;PAIRED=0.930586;PAIREDR=0.919132;PAO=0;PQA=0;PQR=0;PRO=0;QA=13007;QR=14997;RO=507;RPL=205;RPP=15.2619;RPPR=59.6528;RPR=256;RUN=1;SAF=256;SAP=15.2619;SAR=205;SF=0;SRF=275;SRP=10.9295;SRR=232;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.G695A:p.G232D;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.0212;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0212;esp6500siv2_ea=0.0016;1000g2015aug_all=0.0271565;avsnp147=rs61735268;Kaviar_AF=0.002542;Kaviar_AC=393;Kaviar_AN=154602;ExAC_ALL=0.0086;ExAC_AFR=0.0689;ExAC_AMR=0.0098;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0054;ExAC_SAS=0.0003;CLNALLELEID=53193;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.972;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.573;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.791;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-2.91;FATHMM_pred=D;PROVEAN_score=-2.5;PROVEAN_pred=D;VEST3_score=0.158;CADD_raw=5.048;CADD_phred=25.2;DANN_score=0.997;fathmm-MKL_coding_score=0.836;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.242;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.41;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=12.738;GDI_full_10282015=.;dpsi_max_tissue=0.0127;dpsi_zscore=0.087;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0057;gnomAD_exome_AFR=0.0751;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0039;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0047;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0228;gnomAD_genome_AFR=0.0787;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-734.581,0,-874.713:1013:507:461:13007:14997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 112541506 . G A 4869.99 . AB=0.497006;ABP=3.06231;AC=1;AF=0.5;AN=2;AO=332;CIGAR=1X;DP=668;DPB=668;DPRA=0;EPP=31.5011;EPPR=9.72022;GTI=0;LEN=1;MEANALT=3;MQM=33.5512;MQMR=34.717;NS=1;NUMALT=1;ODDS=1121.36;PAIRED=0.870482;PAIREDR=0.919614;PAO=0;PQA=0;PQR=0;PRO=0;QA=9109;QR=9381;RO=311;RPL=232;RPP=116.973;RPPR=74.236;RPR=100;RUN=1;SAF=169;SAP=3.24576;SAR=163;SF=0;SRF=162;SRP=4.1903;SRR=149;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.G1139A:p.R380Q;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777080028;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=4.569e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=524929;CLNDN=Dilated_cardiomyopathy_1DD;CLNDISDB=MedGen:C2750995,OMIM:613172;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.081;SIFT_pred=T;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.44;Polyphen2_HVAR_pred=B;LRT_score=0.982;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-2.55;FATHMM_pred=D;PROVEAN_score=-0.22;PROVEAN_pred=N;VEST3_score=0.119;CADD_raw=2.886;CADD_phred=21.8;DANN_score=0.999;fathmm-MKL_coding_score=0.602;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.553;MetaSVM_pred=T;MetaLR_score=0.466;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.42;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.100;phastCons7way_vertebrate=0.010;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=3.873;GDI_full_10282015=.;dpsi_max_tissue=0.0126;dpsi_zscore=0.086;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.337e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=9.766e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.782e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-509.29,0,-531.182:668:311:332:9109:9381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 112543217 . G A 26370.16 . AB=0.458589;ABP=22.4337;AC=162;AF=0.5;AN=214;AO=598;CIGAR=1X;DP=165929;DPB=1304;DPRA=0;EPP=43.8107;EPPR=49.8329;GTI=0;LEN=1;MEANALT=3;MQM=37.5786;MQMR=38.3829;NS=1;NUMALT=1;ODDS=2477.73;PAIRED=0.913043;PAIREDR=0.921944;PAO=0;PQA=0;PQR=0;PRO=0;QA=18235;QR=21183;RO=679;RPL=427;RPP=240.986;RPPR=230.996;RPR=171;RUN=1;SAF=231;SAP=70.1734;SAR=367;SF=0,1;SRF=261;SRP=81.8389;SRR=418;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.7278;esp6500siv2_ea=0.7879;esp6500siv2_all=0.7278;esp6500siv2_ea=0.7879;1000g2015aug_all=0.788139;avsnp147=rs6585012;Kaviar_AF=0.263664;Kaviar_AC=40763;Kaviar_AN=154602;ExAC_ALL=0.8077;ExAC_AFR=0.6133;ExAC_AMR=0.8357;ExAC_EAS=0.9662;ExAC_FIN=0.8024;ExAC_NFE=0.7966;ExAC_OTH=0.8238;ExAC_SAS=0.8636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4055;dpsi_zscore=1.028;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8183;gnomAD_exome_AFR=0.6245;gnomAD_exome_AMR=0.8343;gnomAD_exome_ASJ=0.7754;gnomAD_exome_EAS=0.9689;gnomAD_exome_FIN=0.8327;gnomAD_exome_NFE=0.7960;gnomAD_exome_OTH=0.7820;gnomAD_exome_SAS=0.8676;gnomAD_genome_ALL=0.7646;gnomAD_genome_AFR=0.6232;gnomAD_genome_AMR=0.8115;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.9654;gnomAD_genome_FIN=0.8266;gnomAD_genome_NFE=0.8062;gnomAD_genome_OTH=0.7898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1119.99,0,-1376.56:1304:679:598:18235:21183 1/1:-4363.13,-515.946,0:1792:6:1748:53306:137 1/1:-3373.74,-362.718,0:1348:15:1317:41090:467 0/1:-866.792,0,-906.535:920:448:454:13581:14074 0/1:-1499.32,0,-1674.89:1671:847:795:24290:26080 1/1:-4744.92,-550.757,0:1949:12:1905:58128:331 0/1:-1271.1,0,-1388.23:1422:704:681:20189:21878 1/1:-4220.03,-469.527,0:1736:18:1682:51450:548 1/1:-3398.01,-374.23,0:1371:13:1336:41210:420 0/1:-1577.35,0,-1882.84:1812:942:839:25830:29165 0/1:-1262.03,0,-1422.59:1413:711:666:20299:21999 0/1:-1415.29,0,-1438.36:1461:718:714:22238:22213 1/1:-3692.89,-425.07,0:1513:11:1478:44819:318 0/1:-1101.98,0,-1248.47:1258:638:593:18005:19869 0/1:-1198.02,0,-1169.92:1214:575:610:18790:18086 1/1:-5364.81,-603.262,0:2194:20:2131:65361:523 0/1:-1170.55,0,-988.194:1162:518:628:18989:16228 0/1:-2744.98,0,-3145.24:3023:1541:1428:44270:48408 0/1:-1450.72,0,-1502.99:1554:758:764:23343:23521 1/1:-2656.46,-314.261,0:1121:8:1094:32838:204 0/1:-1021.16,0,-1127.79:1112:560:529:16334:17416 1/1:-3998.09,-452.654,0:1626:15:1585:48776:353 1/1:-2079.93,-227.93,0:847:10:823:25626:284 1/1:-4455.3,-508.825,0:1791:8:1742:53999:207 0/1:-1718.06,0,-1668.08:1756:848:869:26849:26449 1/1:-3093.26,-369.385,0:1302:5:1267:38116:154 1/1:-4379.63,-481.326,0:1706:10:1667:52462:268 1/1:-3838.78,-430.998,0:1567:15:1526:46769:404 1/1:-2916.48,-331.31,0:1245:16:1204:35995:498 1/1:-2806.25,-317.101,0:1110:5:1091:34058:145 . 0/1:-1846.77,0,-1947.8:1964:965:958:29403:30440 0/1:-1770.41,0,-1604.49:1766:832:904:27556:25563 0/1:-1116.71,0,-1379.01:1298:670:599:18083:20951 . 0/1:-1710.29,0,-1691.44:1752:859:860:26824:26699 1/1:-3939.91,-461.485,0:1586:5:1554:47848:88 1/1:-3553.6,-408.454,0:1440:8:1403:42682:222 1/1:-3528.78,-392.434,0:1435:15:1395:43040:394 0/1:-950.807,0,-1153.74:1105:562:515:15539:17664 0/1:-1775.16,0,-1927.59:1920:964:920:28109:30132 0/1:-1330.18,0,-1479.64:1466:735:693:21144:22975 1/1:-4278.09,-476.535,0:1702:13:1662:51782:319 0/1:-1558.18,0,-1567.74:1593:762:805:24397:24210 1/1:-4210.72,-473.739,0:1712:14:1661:50919:358 1/1:-3729.34,-412.99,0:1529:19:1471:45108:528 1/1:-3838.35,-435.948,0:1561:13:1520:46729:321 1/1:-2145.07,-244.971,0:868:5:848:25928:145 1/1:-2925.75,-332.369,0:1182:7:1153:35556:189 1/1:-4473.21,-495.112,0:1800:16:1749:53945:421 0/1:-1456.87,0,-1802.8:1696:889:775:23517:27610 0/1:-1334.68,0,-1510.54:1528:768:733:22359:23611 1/1:-4717.13,-532.149,0:1887:10:1846:56908:337 1/1:-4697.41,-558.223,0:1913:7:1888:56904:173 0/1:-1010.37,0,-1089.9:1128:559:541:16474:17440 0/1:-1132.19,0,-1382.04:1265:659:589:18149:20875 1/1:-3912.14,-448.536,0:1575:9:1544:47170:232 1/1:-2281.66,-272.714,0:974:10:947:28667:225 0/1:-1118.46,0,-930.571:1087:488:579:17707:15081 . . 0/1:-1832.08,0,-1887.55:1949:957:961:29391:29852 0/1:-1565.06,0,-1539.75:1592:776:791:24387:24174 0/1:-889.049,0,-896.343:953:464:472:14248:14376 1/1:-4626.17,-509.152,0:1879:19:1833:56179:602 . 1/1:-2121.84,-258.751,0:890:3:875:26335:82 1/1:-3667.78,-396.726,0:1493:23:1447:44502:542 0/1:-1142.22,0,-1412.83:1321:692:603:18784:21614 1/1:-3983.64,-449.669,0:1652:15:1599:48535:456 0/1:-1541.21,0,-1708.81:1689:846:805:24393:26224 0/1:-2049.64,0,-2149.01:2103:1029:1041:31755:32674 1/1:-4247.37,-452.212,0:1729:24:1672:51439:669 0/1:-844.05,0,-986.994:1074:552:497:14535:16093 1/1:-3390.81,-374.02,0:1348:11:1319:40949:331 1/1:-4922.85,-572.644,0:2023:10:1960:59733:231 1/1:-3804.54,-427.355,0:1549:14:1501:46235:367 0/1:-1817.68,0,-1748.9:1851:871:938:28854:27493 1/1:-2372.41,-270.483,0:982:10:952:28885:228 . 0/1:-1655.15,0,-1565.79:1687:793:858:25961:24748 0/1:-1896.88,0,-1646.03:1852:850:966:29737:26584 1/1:-4245.7,-481.827,0:1744:12:1687:51439:361 0/1:-1301.56,0,-1491.78:1457:739:692:21209:23053 1/1:-3373.28,-405.201,0:1428:9:1376:41199:179 0/1:-1287.76,0,-1485.36:1416:709:687:20541:22564 1/1:-2575.6,-280.766,0:1047:11:1015:31398:343 0/1:-1626.26,0,-1668.63:1700:830:839:25924:26026 0/1:-865.029,0,-804.705:862:413:435:13449:12748 1/1:-3677.19,-421.589,0:1535:13:1492:44980:368 1/1:-5141.24,-574.029,0:2098:21:2042:62855:586 1/1:-3564.57,-411.711,0:1476:10:1433:43458:268 1/1:-5232.48,-603.681,0:2091:9:2049:62722:214 1/1:-4324.25,-485.291,0:1771:19:1718:52544:516 1/1:-4158.2,-463.765,0:1709:17:1649:50734:441 . 0/1:-2029,0,-2036.04:1885:939:929:30155:29983:939,929 0/1:-1884.82,0,-2014.61:1818:909:893:28287:29435:909,893 1/1:-5366.28,-546.587,0:1962:15:1936:62851:491:15,1936 1/1:-2850.91,-284.497,0:1062:11:1039:33416:358:11,1039 1/1:-4070.51,-424.568,0:1493:7:1471:47602:244:7,1471 0/1:-2026.27,0,-2061.04:1881:943:922:30151:30597:943,922 . 0/1:-1703.68,0,-2101.88:1745:933:795:25714:30163:933,795 0/1:-1831.3,0,-1741.25:1658:807:834:26971:25935:807,834 1/1:-4905.8,-513.583,0:1793:9:1774:57232:263:9,1774 0/1:-1927.88,0,-2065.76:1832:932:888:28675:30294:932,888 0/1:-1490.69,0,-1406.3:1331:645:673:22048:20775:645,673 0/1:-1604.91,0,-1715.95:1538:781:745:24053:25065:781,745 . 0/1:-1929.86,0,-1987.17:1847:931:901:29025:29424:931,901 1/1:-4379.81,-450.514,0:1623:13:1594:51442:383:13,1594 0/1:-1899.36,0,-1904.78:1753:865:870:28105:27989:865,870 1/1:-4233.02,-442.236,0:1549:8:1526:49340:222:8,1526 0/1:-1669.52,0,-1634.98:1508:740:761:24816:24187:740,761 1/1:-4476.1,-461.675,0:1669:12:1642:52540:420:12,1642 chr10 112544063 . A C 13554.77 . AB=0;ABP=0;AC=127;AF=1;AN=190;AO=776;CIGAR=1X;DP=92678;DPB=808;DPRA=0;EPP=14.4721;EPPR=32.0437;GTI=0;LEN=1;MEANALT=2;MQM=37.951;MQMR=32.3333;NS=1;NUMALT=1;ODDS=920.764;PAIRED=0.957474;PAIREDR=0.925926;PAO=0;PQA=0;PQR=0;PRO=0;QA=22176;QR=499;RO=27;RPL=343;RPP=25.6764;RPPR=9.52472;RPR=433;RUN=1;SAF=357;SAP=13.7669;SAR=419;SF=0,1;SRF=18;SRP=9.52472;SRR=9;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.5315;esp6500siv2_ea=0.5698;esp6500siv2_all=0.5315;esp6500siv2_ea=0.5698;1000g2015aug_all=0.633986;avsnp147=rs7898438;Kaviar_AF=0.189073;Kaviar_AC=29231;Kaviar_AN=154602;ExAC_ALL=0.6534;ExAC_AFR=0.4381;ExAC_AMR=0.6746;ExAC_EAS=0.9003;ExAC_FIN=0.6875;ExAC_NFE=0.5824;ExAC_OTH=0.6613;ExAC_SAS=0.7632;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2924;dpsi_zscore=0.880;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6405;gnomAD_exome_AFR=0.4339;gnomAD_exome_AMR=0.6756;gnomAD_exome_ASJ=0.5901;gnomAD_exome_EAS=0.8826;gnomAD_exome_FIN=0.6139;gnomAD_exome_NFE=0.5772;gnomAD_exome_OTH=0.5847;gnomAD_exome_SAS=0.7616;gnomAD_genome_ALL=0.5580;gnomAD_genome_AFR=0.4297;gnomAD_genome_AMR=0.6734;gnomAD_genome_ASJ=0.5861;gnomAD_genome_EAS=0.8634;gnomAD_genome_FIN=0.6037;gnomAD_genome_NFE=0.5783;gnomAD_genome_OTH=0.6145;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1821.6,-200.256,0:808:27:776:22176:499 1/1:-2669.03,-300.646,0:1161:30:1124:32176:651 0/1:-827.31,0,-862.442:918:457:458:13025:13527 . 0/1:-853.27,0,-900.664:1000:492:493:13832:14096 0/1:-985.057,0,-1068.97:1120:573:540:15501:16803 0/1:-735.896,0,-922.155:928:485:432:12210:14142 1/1:-2491.73,-285.726,0:1095:29:1057:29889:541 . 0/1:-959.731,0,-1015.68:1159:582:568:15693:16368 0/1:-832.792,0,-763.866:899:430:462:13121:12262 0/1:-722.45,0,-869.339:919:480:431:12040:13658 0/1:-824.554,0,-803.25:902:440:458:12828:12669 0/1:-625.244,0,-750.64:805:408:386:10606:11881 0/1:-589,0,-712.943:763:391:364:10034:11092 1/1:-3273.78,-349.487,0:1448:50:1391:39922:1010 . 0/1:-1740.54,0,-1762.8:1922:937:966:27300:27608 0/1:-826.618,0,-946.042:960:493:458:13310:14535 0/1:-601.841,0,-551.854:650:312:330:9374:8870 0/1:-676.44,0,-604.889:726:342:375:10582:9842 0/1:-1057.25,0,-833.997:1070:480:583:16470:13680 0/1:-467.73,0,-495.151:555:282:266:7695:8043 0/1:-1191.9,0,-1011.09:1209:568:632:18374:16379 0/1:-1162.12,0,-905.162:1142:513:622:17951:15000 0/1:-750.529,0,-508.847:759:326:431:11912:9321 1/1:-2195.44,-240.318,0:1000:33:958:26550:695 0/1:-817.325,0,-847.225:909:449:451:12807:12973 1/1:-1600.91,-181.6,0:734:26:705:19864:483 . 0/1:-750.628,0,-789.581:853:424:418:11941:12374 . . 0/1:-725.119,0,-768.548:813:418:391:11461:12051 . 0/1:-949.369,0,-1005.43:1078:541:532:15297:15966 0/1:-857.58,0,-994.344:1064:544:507:13862:15769 1/1:-2496.38,-287.213,0:1050:19:1021:29926:381 1/1:-2105.94,-254.698,0:956:21:929:25605:369 0/1:-539.322,0,-721.024:690:358:329:8849:10913 0/1:-1156.05,0,-868.426:1103:483:608:17517:14241 . 0/1:-770.562,0,-907.342:907:465:430:12400:14115 0/1:-869.43,0,-894.442:952:478:465:13611:14073 0/1:-1137.61,0,-1004.09:1222:570:638:18103:16337 0/1:-824.024,0,-850.893:956:460:477:13079:13375 0/1:-960.098,0,-845.647:1026:478:536:15145:13758 1/1:-1155.44,-133.504,0:518:13:497:13889:239 0/1:-791.405,0,-667.989:819:386:424:12139:10712 1/1:-2828.38,-328.619,0:1219:23:1187:33967:430 . . 0/1:-1073.35,0,-1153.83:1201:602:588:16790:17819 0/1:-926.877,0,-997.617:1103:557:539:14977:15897 0/1:-583.981,0,-600.646:689:342:338:9726:9908 1/1:-1767.95,-196.873,0:761:18:741:21220:364 1/1:-2511.13,-285.408,0:1113:28:1077:30549:562 1/1:-1145.01,-140.844,0:548:15:526:14377:270 0/1:-611.647,0,-632.454:710:338:363:9840:10050 0/1:-903.949,0,-887.967:1007:490:507:14508:14236 . 0/1:-1063.72,0,-852.274:1109:509:592:16665:14358 1/1:-2129.97,-244.914,0:891:14:872:25083:258 0/1:-518.006,0,-601.265:676:343:322:8699:9690 1/1:-2726.67,-325.879,0:1241:27:1205:33221:534 . 1/1:-1309.37,-155.036,0:605:17:587:16219:329 0/1:-839.146,0,-832.798:931:450:475:13322:13268 0/1:-674.636,0,-741.987:832:427:401:11032:11831 . . 0/1:-1180.35,0,-1302.89:1360:692:661:18844:20070 1/1:-2559.01,-287.909,0:1123:26:1085:30686:540 0/1:-457.636,0,-454.367:595:287:302:7864:7874 0/1:-679.3,0,-894.083:894:471:415:11458:13717 1/1:-2605.5,-291.214,0:1185:40:1133:32130:837 1/1:-2381.56,-279.505,0:1042:24:1015:28752:451 0/1:-1013.42,0,-998.058:1130:547:573:16251:15922 0/1:-597.858,0,-582.921:646:313:326:9263:9210 . 0/1:-759.872,0,-981.911:997:531:459:12584:15466 1/1:-2647.21,-303.424,0:1184:37:1135:32305:666 1/1:-2525.97,-283.565,0:1112:26:1075:30539:589 0/1:-871.244,0,-737.186:926:428:491:13659:12308 1/1:-1841.04,-220.371,0:844:19:821:22605:399 0/1:-877.108,0,-828.972:913:435:469:13428:12928 1/1:-1676.78,-189.506,0:736:20:713:20214:379 . 0/1:-563.038,0,-440.754:553:250:301:8490:7143 1/1:-1955.15,-234.515,0:861:15:838:23769:276 1/1:-3138.17,-331.739,0:1428:57:1360:38776:1170 0/1:-759.489,0,-654.37:798:373:415:11791:10661 1/1:-2977.83,-323.492,0:1298:34:1252:35903:759 1/1:-2396.71,-263.027,0:1085:33:1046:29103:724 1/1:-2496.48,-281.515,0:1092:34:1053:30038:622 . 0/1:-1147.51,0,-1048.12:1051:517:531:16954:15846:517,531 0/1:-1302.12,0,-1171.43:1195:579:610:19239:17919:579,610 1/1:-3388.32,-348.888,0:1285:17:1264:39784:434:17,1264 1/1:-1723.16,-174.714,0:674:14:659:20400:314:14,659 1/1:-2670.04,-282.269,0:1008:11:992:31215:251:11,992 . 0/1:-1054.95,0,-986.521:982:481:497:15752:14793:481,497 0/1:-1172.9,0,-1250.26:1188:614:570:17759:18821:614,570 . 0/1:-969.67,0,-995.779:975:500:468:14743:15095:500,468 0/1:-1233.4,0,-1089.72:1125:552:573:18265:16462:552,573 . 0/1:-1094.65,0,-897.31:982:460:520:16150:13970:460,520 . 0/1:-1197.6,0,-965.189:1055:495:557:17520:15002:495,557 1/1:-2680.21,-276.977,0:1045:22:1020:31583:424:22,1020 0/1:-1267.36,0,-1227.54:1206:600:599:18875:18521:600,599 0/1:-936.215,0,-961.355:924:468:453:14133:14517:468,453 0/1:-983.242,0,-974.701:946:485:457:14635:14698:485,457 0/1:-1016.68,0,-1145.34:1031:536:489:15360:16799:536,489 chr10 112544125 . C T 8864.32 . AB=0.430338;ABP=54.1393;AC=1;AF=0.5;AN=2;AO=522;CIGAR=1X;DP=1213;DPB=1213;DPRA=0;EPP=7.81915;EPPR=4.1891;GTI=0;LEN=1;MEANALT=3;MQM=37.7778;MQMR=38.2301;NS=1;NUMALT=1;ODDS=2041.08;PAIRED=0.934866;PAIREDR=0.923308;PAO=0;PQA=0;PQR=0;PRO=0;QA=15117;QR=20515;RO=665;RPL=208;RPP=49.751;RPPR=69.7839;RPR=314;RUN=1;SAF=226;SAP=23.3939;SAR=296;SF=0;SRF=288;SRP=28.8753;SRR=377;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon4:c.C1364T:p.S455L;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0104;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0104;1000g2015aug_all=0.00199681;avsnp147=rs189569984;Kaviar_AF=0.0018758;Kaviar_AC=290;Kaviar_AN=154602;ExAC_ALL=0.0048;ExAC_AFR=0.0010;ExAC_AMR=0.0075;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0095;ExAC_OTH=0.0108;ExAC_SAS=0.0010;CLNALLELEID=53139;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.614;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.062;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-2.74;FATHMM_pred=D;PROVEAN_score=-2.86;PROVEAN_pred=D;VEST3_score=0.635;CADD_raw=3.738;CADD_phred=23.3;DANN_score=0.996;fathmm-MKL_coding_score=0.640;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.417;MetaSVM_pred=T;MetaLR_score=0.431;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.54;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.608;phastCons20way_mammalian=0.016;SiPhy_29way_logOdds=17.672;GDI_full_10282015=.;dpsi_max_tissue=-1.9614;dpsi_zscore=-1.888;hgmdCODING=HGMD::Cardiomyopathy,_dilated#22004663;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1111133#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0055;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0181;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0078;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0042;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0063;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-905.404,0,-1352.97:1213:665:522:15117:20515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 112544655 . C T 6278.61 . AB=0.497997;ABP=3.03639;AC=37;AF=0.5;AN=70;AO=373;CIGAR=1X;DP=25229;DPB=749;DPRA=0;EPP=118.75;EPPR=83.9053;GTI=0;LEN=1;MEANALT=3;MQM=39.7131;MQMR=39.1239;NS=1;NUMALT=1;ODDS=1394.03;PAIRED=0.986595;PAIREDR=0.971831;PAO=0;PQA=0;PQR=0;PRO=0;QA=10784;QR=10195;RO=355;RPL=114;RPP=125.41;RPPR=149.967;RPR=259;RUN=1;SAF=170;SAP=9.35007;SAR=203;SF=0,1;SRF=164;SRP=7.46946;SRR=191;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.2190;esp6500siv2_ea=0.2200;esp6500siv2_all=0.2190;esp6500siv2_ea=0.2200;1000g2015aug_all=0.164137;avsnp147=rs7077757;Kaviar_AF=0.0562541;Kaviar_AC=8697;Kaviar_AN=154602;ExAC_ALL=0.1640;ExAC_AFR=0.2297;ExAC_AMR=0.1732;ExAC_EAS=0.0643;ExAC_FIN=0.2059;ExAC_NFE=0.2137;ExAC_OTH=0.1649;ExAC_SAS=0.0998;CLNALLELEID=53143;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.5479;dpsi_zscore=2.347;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1845;gnomAD_exome_AFR=0.2293;gnomAD_exome_AMR=0.1618;gnomAD_exome_ASJ=0.1761;gnomAD_exome_EAS=0.0835;gnomAD_exome_FIN=0.2229;gnomAD_exome_NFE=0.2240;gnomAD_exome_OTH=0.1907;gnomAD_exome_SAS=0.1015;gnomAD_genome_ALL=0.2144;gnomAD_genome_AFR=0.2242;gnomAD_genome_AMR=0.1456;gnomAD_genome_ASJ=0.1854;gnomAD_genome_EAS=0.0986;gnomAD_genome_FIN=0.2209;gnomAD_genome_NFE=0.2270;gnomAD_genome_OTH=0.1701;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-705.479,0,-636.982:749:355:373:10784:10195 0/1:-404.36,0,-515.517:496:266:219:6437:7616 . 0/1:-751.44,0,-1026.58:985:535:426:12154:15458 . . 1/1:-1531.54,-175.079,0:648:7:636:18223:208 . . . 0/1:-719.149,0,-745.089:777:377:378:10988:11323 . . . 0/1:-489.618,0,-610.372:635:332:285:8067:9325 . . 0/1:-569.238,0,-547.744:607:289:297:8726:8400 . 0/1:-833.709,0,-969.68:967:497:449:13171:14638 0/1:-433.558,0,-484.394:519:258:243:6872:7519 0/1:-912.1,0,-1132.51:1110:579:504:14479:16932 . 0/1:-464.254,0,-624.677:632:330:283:7653:9554 . 0/1:-813.597,0,-890.719:905:461:428:12574:13479 . 1/1:-1372.7,-148.494,0:585:10:567:16321:284 . 0/1:-929.073,0,-950.679:997:489:487:14267:14450 0/1:-776.756,0,-863.485:886:459:404:12059:13072 . . . . . . . . 0/1:-571.528,0,-677.33:703:360:321:8969:10289 . . . 0/1:-683.954,0,-810.281:833:421:383:10811:12256 0/1:-687.23,0,-740.57:785:402:371:10736:11387 . 0/1:-601.219,0,-510.284:622:281:321:9151:8004 . 0/1:-761.103,0,-870.325:886:447:420:11911:13283 0/1:-662.887,0,-794.298:822:423:371:10585:12177 0/1:-823.415,0,-1100.36:1032:549:453:13067:16255 0/1:-910.289,0,-938.19:1014:496:492:14173:14449 . . . . . . . . . . . . . 0/1:-756.894,0,-781.964:842:415:403:11799:11915 . 0/1:-615.822,0,-719.095:724:372:334:9745:10793 0/1:-668.723,0,-734.053:771:385:367:10584:11131 . . . 0/1:-572.262,0,-711.756:715:371:331:9232:10672 . . . 0/1:-380.976,0,-581.745:538:301:217:6235:8661 . . . . . . . . 0/1:-710.07,0,-904.724:880:460:396:11446:13579 . . . 0/1:-595.943,0,-724.3:734:381:337:9690:11018 . . . . . . . . . 0/1:-390.466,0,-399.355:391:195:188:5827:5904:195,188 . . 0/1:-336.502,0,-381.076:358:187:164:5069:5564:187,164 0/1:-319.309,0,-311.027:322:159:157:4740:4638:159,157 . . . . . . . 0/1:-376.117,0,-403.853:394:196:189:5739:6027:196,189 . 0/1:-316.684,0,-411.353:365:197:163:4896:5994:197,163 chr10 112570130 . G C 8298.60 . AB=0.499545;ABP=3.01228;AC=8;AF=0.5;AN=16;AO=549;CIGAR=1X;DP=8169;DPB=1099;DPRA=0;EPP=11.7476;EPPR=6.43658;GTI=0;LEN=1;MEANALT=3;MQM=35.5665;MQMR=36.197;NS=1;NUMALT=1;ODDS=2080.76;PAIRED=0.947177;PAIREDR=0.904315;PAO=0;PQA=0;PQR=0;PRO=0;QA=15745;QR=16226;RO=533;RPL=131;RPP=328.806;RPPR=124.943;RPR=418;RUN=1;SAF=331;SAP=53.5158;SAR=218;SF=0;SRF=305;SRP=27.1654;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.0269;esp6500siv2_ea=0.0245;esp6500siv2_all=0.0269;esp6500siv2_ea=0.0245;1000g2015aug_all=0.0365415;avsnp147=rs12572941;Kaviar_AF=0.0121538;Kaviar_AC=1879;Kaviar_AN=154602;ExAC_ALL=0.0498;ExAC_AFR=0.0275;ExAC_AMR=0.0220;ExAC_EAS=0.0273;ExAC_FIN=0.0293;ExAC_NFE=0.0253;ExAC_OTH=0.0620;ExAC_SAS=0.0899;CLNALLELEID=53145;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0859;dpsi_zscore=0.438;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0353;gnomAD_exome_AFR=0.0285;gnomAD_exome_AMR=0.0177;gnomAD_exome_ASJ=0.0223;gnomAD_exome_EAS=0.0292;gnomAD_exome_FIN=0.0370;gnomAD_exome_NFE=0.0229;gnomAD_exome_OTH=0.0318;gnomAD_exome_SAS=0.0940;gnomAD_genome_ALL=0.0263;gnomAD_genome_AFR=0.0264;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0376;gnomAD_genome_FIN=0.0372;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-951.87,0,-983.722:1099:533:549:15745:16226 . . . 0/1:-735.268,0,-963.237:987:528:447:12655:15582 . . . . . . . . . . . . . . . 0/1:-551.864,0,-505.353:673:320:342:9499:9362 . . . . . . . . . . . . . . . . . . . . . . 0/1:-794.63,0,-948.928:1014:520:479:13660:15653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1110.75,0,-1067.53:1274:609:645:18384:18276 . . . 0/1:-536.728,0,-461.162:569:257:305:8711:7747 . . . . . . . 0/1:-1082.65,0,-891.897:1149:507:621:17263:15236 . . . . 0/1:-1196.58,0,-1326.63:1404:699:684:19856:21362 . . . . . . . . . . . . . . . . . . . . . . . chr10 112570243 . T C 9995.43 . AB=0.485075;ABP=5.34382;AC=95;AF=0.5;AN=158;AO=585;CIGAR=1X;DP=81580;DPB=1206;DPRA=0;EPP=3.84548;EPPR=22.4188;GTI=0;LEN=1;MEANALT=3;MQM=34.3624;MQMR=36.5569;NS=1;NUMALT=1;ODDS=2122.25;PAIRED=0.919658;PAIREDR=0.92931;PAO=0;PQA=0;PQR=0;PRO=0;QA=16492;QR=17497;RO=580;RPL=374;RPP=101.632;RPPR=80.6442;RPR=211;RUN=1;SAF=197;SAP=138.425;SAR=388;SF=0,1;SRF=212;SRP=94.1223;SRR=368;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.3035;esp6500siv2_ea=0.3755;esp6500siv2_all=0.3035;esp6500siv2_ea=0.3755;1000g2015aug_all=0.316494;avsnp147=rs11195338;Kaviar_AF=0.11276;Kaviar_AC=17433;Kaviar_AN=154602;ExAC_ALL=0.3515;ExAC_AFR=0.1450;ExAC_AMR=0.3177;ExAC_EAS=0.5468;ExAC_FIN=0.4163;ExAC_NFE=0.3895;ExAC_OTH=0.3602;ExAC_SAS=0.3392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0363;dpsi_zscore=0.232;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3629;gnomAD_exome_AFR=0.1481;gnomAD_exome_AMR=0.2859;gnomAD_exome_ASJ=0.4252;gnomAD_exome_EAS=0.5396;gnomAD_exome_FIN=0.3946;gnomAD_exome_NFE=0.3846;gnomAD_exome_OTH=0.3694;gnomAD_exome_SAS=0.3349;gnomAD_genome_ALL=0.3198;gnomAD_genome_AFR=0.1544;gnomAD_genome_AMR=0.2852;gnomAD_genome_ASJ=0.4570;gnomAD_genome_EAS=0.5037;gnomAD_genome_FIN=0.4092;gnomAD_genome_NFE=0.3705;gnomAD_genome_OTH=0.3827;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-953.591,0,-1061.2:1206:580:585:16492:17497 0/1:-700.414,0,-1073.38:1034:568:423:12381:17234 0/1:-478.271,0,-610.135:671:339:307:8505:10175 . 0/1:-954.385,0,-1139.45:1241:614:582:16319:18648 . 0/1:-877.263,0,-1008.59:1118:539:524:14908:16485 . 0/1:-813.165,0,-1095.7:1134:588:499:14164:17538 0/1:-677.995,0,-862.749:935:467:418:11786:14098 . 0/1:-719.72,0,-971.449:972:505:433:12415:15600 . . 1/1:-3128.48,-396.189,0:1460:14:1396:39653:333 0/1:-474.268,0,-647.196:714:372:314:8811:11025 0/1:-1553.65,0,-2104.85:2146:1106:962:27227:33902 0/1:-719.188,0,-1015.94:970:506:431:12469:15933 1/1:-1349.8,-178.396,0:670:7:633:17593:195 0/1:-531.205,0,-750.646:767:389:344:9574:12109 . 0/1:-341.621,0,-497.178:541:286:233:6625:8654 0/1:-976.937,0,-1298.17:1325:682:598:16992:20928 0/1:-805.541,0,-1191.82:1168:632:496:14345:19246 . . 0/1:-675.465,0,-1010.77:952:512:403:11850:15892 0/1:-436.515,0,-673.218:690:370:284:8123:11159 0/1:-578.791,0,-733.46:734:370:337:9679:11627 0/1:-621.469,0,-893.627:898:470:391:11194:14324 0/1:-848.277,0,-1263.11:1276:679:556:15440:20409 0/1:-910.622,0,-1107.55:1180:584:553:15951:18041 0/1:-583.546,0,-833.876:823:436:358:10244:13579 . 0/1:-873.226,0,-1140.55:1160:599:514:14802:18295 . 0/1:-738.703,0,-1046.47:1052:542:472:13313:16678 0/1:-767.794,0,-754.707:972:445:490:13544:13655 . 0/1:-825.291,0,-1267.75:1256:672:538:15123:20106 0/1:-740.491,0,-1018.87:1038:527:465:12879:16086 . . 0/1:-1100.36,0,-1263.48:1380:671:649:18451:20728 0/1:-822.432,0,-979.624:1040:516:486:13941:15950 . 1/1:-1184.93,-140.427,0:569:12:540:15154:336 0/1:-553.913,0,-813.271:803:425:344:9748:12964 0/1:-833.787,0,-1335.02:1260:681:528:14905:20809 . 0/1:-619.114,0,-719.999:911:436:430:11817:13132 0/1:-951.945,0,-1264.32:1307:676:590:16726:20795 1/1:-2543.36,-312.263,0:1142:14:1099:31870:332 . 0/1:-594.892,0,-709.166:756:365:363:10190:11323 . 1/1:-868.115,-123.655,0:437:3:420:11751:82 0/1:-490.229,0,-767.087:740:400:309:8812:12268 0/1:-787.436,0,-1005.75:1061:540:476:13420:16261 1/1:-1030.77,-140.357,0:514:4:487:13553:118 0/1:-1054.77,0,-1408.03:1459:754:649:18253:22971 0/1:-648.381,0,-1030.88:985:532:416:11730:16410 0/1:-378.172,0,-563.779:616:325:267:7089:9926 0/1:-871.199,0,-1298.19:1285:682:551:15529:20924 1/1:-2212.9,-286.354,0:1057:9:1008:28352:239 1/1:-993.639,-139.866,0:502:3:476:12874:60 0/1:-752.758,0,-983.552:1034:529:473:13407:16194 0/1:-470.792,0,-845.848:806:456:316:8749:13731 0/1:-616.881,0,-1016.96:1014:556:404:11550:16605 1/1:-1970.77,-245.199,0:945:13:898:24999:393 . 0/1:-865.216,0,-1198.55:1230:649:536:15246:19557 . 0/1:-644.337,0,-857.748:888:467:396:11046:13967 0/1:-841.176,0,-1125.48:1184:608:530:15048:18653 1/1:-2336.84,-287.223,0:1113:15:1064:29795:479 0/1:-832.36,0,-1223.15:1238:655:545:15282:19662 . . 0/1:-880.487,0,-1122.99:1187:600:543:15366:18343 0/1:-832.457,0,-1103.97:1151:600:508:14742:18416 1/1:-2296.67,-261.834,0:1099:26:1038:29379:768 0/1:-783.982,0,-951.191:1031:524:475:13609:15769 . . . 0/1:-623.262,0,-1212.75:1103:629:424:11961:18992 . 0/1:-696.249,0,-849.835:919:459:424:12136:13975 . . . 1/1:-2077.71,-244.941,0:1023:24:960:26698:625 0/1:-858.877,0,-1133.06:1211:613:549:15324:18720 . . 0/1:-1024.71,0,-1447.57:1209:659:529:16289:20983:659,529 0/1:-1209.99,0,-1394.58:1298:657:612:18780:20895:657,612 1/1:-1489.78,-144.697,0:586:10:571:17706:343:10,571 . 0/1:-1183.62,0,-1403.88:1263:654:594:18211:20913:654,594 0/1:-998.944,0,-1170.1:1046:538:485:15365:17316:538,485 . 0/1:-944.507,0,-1295.07:1100:591:490:14747:18801:591,490 1/1:-2756.76,-284.806,0:1118:19:1077:33042:515:19,1077 0/1:-1061.95,0,-1407.61:1216:643:551:16691:20565:643,551 . 0/1:-919.531,0,-1173.94:1030:548:463:14322:17261:548,463 1/1:-2349.04,-244.576,0:939:12:909:27859:371:12,909 1/1:-2899.85,-291.599,0:1196:25:1142:34815:695:25,1142 0/1:-1103.28,0,-1192.85:1134:562:542:16820:17695:562,542 0/1:-1093.07,0,-1479.27:1270:690:563:17246:21815:690,563 . 0/1:-999.304,0,-1193.17:1072:552:497:15311:17508:552,497 . chr10 112572458 . G C 19382.27 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=836;CIGAR=1X;DP=101243;DPB=845;DPRA=0;EPP=6.76103;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=31.7656;MQMR=16;NS=1;NUMALT=1;ODDS=1150.41;PAIRED=0.901914;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=23358;QR=28;RO=2;RPL=414;RPP=3.17654;RPPR=3.0103;RPR=422;RUN=1;SAF=345;SAP=58.3777;SAR=491;SF=0,1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.G2303C:p.W768S;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.9936;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9936;esp6500siv2_ea=0.9994;1000g2015aug_all=0.991014;avsnp147=rs1417635;Kaviar_AF=0.31257;Kaviar_AC=48324;Kaviar_AN=154602;ExAC_ALL=0.9968;ExAC_AFR=0.9697;ExAC_AMR=0.9951;ExAC_EAS=0.9984;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=142604;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2073;dpsi_zscore=0.737;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9982;gnomAD_exome_AFR=0.9721;gnomAD_exome_AMR=0.9982;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9998;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9992;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9919;gnomAD_genome_AFR=0.9720;gnomAD_genome_AMR=0.9976;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1778.26,-250.392,0:845:2:836:23358:28 1/1:-2319.8,-316.554,0:1089:8:1068:30078:138 1/1:-1900.66,-244.626,0:832:3:820:24119:42 1/1:-1210.58,-165.844,0:578:5:564:15768:83 1/1:-1867.04,-261.087,0:898:5:883:24557:70 1/1:-2457.02,-333.091,0:1136:4:1112:31835:63 1/1:-1782.25,-241.914,0:844:8:820:23158:130 1/1:-1923.78,-260.025,0:907:8:887:25281:119 1/1:-1685.04,-225.539,0:786:7:772:21783:120 1/1:-2086.65,-279.585,0:954:3:936:27014:42 1/1:-1788.44,-246.852,0:849:5:835:23270:92 1/1:-1796.15,-239.344,0:811:2:798:23009:28 1/1:-1697.48,-237.073,0:816:4:804:22396:69 1/1:-1599.41,-223.004,0:769:4:756:21016:74 1/1:-1607.37,-220.655,0:740:0:733:20779:0 1/1:-2609.11,-352.935,0:1197:3:1182:33635:42 1/1:-1332.58,-184.869,0:661:11:639:17691:154 1/1:-3709.12,-497.616,0:1703:13:1677:47567:204 1/1:-1938.08,-262.792,0:897:6:883:25062:97 1/1:-1334.96,-184.487,0:629:2:619:17404:28 1/1:-1307.96,-177.532,0:603:2:592:16809:28 1/1:-2145.48,-287.708,0:988:6:967:27550:84 1/1:-1144.82,-164.17,0:572:6:559:15435:84 1/1:-2270.88,-309.061,0:1054:4:1037:29021:56 1/1:-2139.42,-285.717,0:988:8:970:27585:125 1/1:-1478.25,-200.949,0:694:5:683:19309:70 1/1:-1908.96,-262.008,0:897:4:879:24857:74 1/1:-2087.31,-277.488,0:938:4:929:26313:56 1/1:-1315.96,-191.312,0:654:4:641:17871:63 1/1:-1398.42,-190.773,0:652:2:640:18206:28 1/1:-1581.88,-217.352,0:746:4:731:20257:56 1/1:-2519.01,-344.041,0:1175:5:1157:33007:83 1/1:-2115.88,-290.63,0:994:3:975:27810:42 1/1:-1748.44,-242.286,0:825:2:811:22577:28 1/1:-2003.62,-259.042,0:890:7:877:25099:98 1/1:-2007.02,-271.357,0:932:5:913:26093:70 1/1:-1870,-268.929,0:923:4:906:24830:56 1/1:-2197.29,-298.277,0:1023:4:1001:28028:105 1/1:-1842.97,-252.364,0:867:5:848:24089:70 1/1:-1248.27,-173.022,0:600:5:585:16069:70 1/1:-2391.89,-329.398,0:1120:4:1103:31423:74 1/1:-1790.4,-249.913,0:850:4:834:22926:56 1/1:-1986.5,-265.382,0:902:4:892:25897:56 1/1:-1937.28,-261.19,0:892:3:873:25149:42 1/1:-2285.65,-306.585,0:1053:9:1031:29183:133 1/1:-2004.68,-282.085,0:956:4:939:25608:56 1/1:-2007.33,-274.729,0:936:3:920:25978:42 1/1:-1135.7,-155.014,0:533:3:524:14594:60 1/1:-1744.42,-233.539,0:796:3:782:22344:42 1/1:-2303.78,-318.846,0:1094:5:1068:29474:70 1/1:-2221.06,-300.344,0:1030:5:1008:28719:70 1/1:-1591.46,-224.869,0:762:2:750:21224:28 1/1:-2579.02,-341.289,0:1166:5:1144:32385:70 1/1:-2153.09,-300.099,0:1017:4:1004:28097:56 1/1:-1289.05,-186.12,0:644:5:630:17210:70 1/1:-1624.49,-214.906,0:758:11:736:20909:198 1/1:-1909.13,-256.333,0:906:8:880:24969:137 1/1:-943.387,-140.524,0:484:1:470:12864:14 1/1:-1328.97,-175.791,0:611:5:596:17102:70 1/1:-1950.27,-264.348,0:911:5:890:25333:77 1/1:-1032.24,-149.854,0:512:1:501:14014:14 1/1:-2322.86,-314.859,0:1081:7:1056:30235:98 1/1:-1584.76,-210.209,0:729:5:713:20269:90 1/1:-1143.71,-166.684,0:585:5:566:15703:70 1/1:-2167.77,-298.01,0:1008:3:994:27928:49 1/1:-1993.32,-272.589,0:935:6:920:25678:84 1/1:-1016.3,-150.576,0:517:4:504:13512:56 1/1:-2020.82,-272.276,0:936:5:918:26045:70 1/1:-1615.36,-224.889,0:779:7:759:20987:98 1/1:-1938.03,-270.914,0:915:1:903:25745:14 1/1:-2054.34,-276.04,0:930:2:920:26387:28 1/1:-2610.35,-336.185,0:1140:2:1123:32927:28 1/1:-2356.1,-321.346,0:1090:3:1075:30353:42 1/1:-975.349,-153.443,0:532:2:512:13839:28 1/1:-1795.94,-238.924,0:826:4:806:22990:56 1/1:-2207.22,-303.571,0:1047:4:1024:28700:74 1/1:-2197.52,-300.719,0:1027:6:1007:28370:84 1/1:-2270.24,-304.923,0:1035:4:1020:29657:56 1/1:-1163.75,-160.008,0:556:5:545:15192:70 1/1:-1047.81,-143.636,0:500:2:485:13744:35 1/1:-1974.66,-272.653,0:943:8:925:25809:112 1/1:-2170.64,-303.601,0:1039:6:1018:28417:84 1/1:-2092.21,-289.773,0:987:3:970:27543:42 1/1:-1773.47,-239.467,0:831:6:811:22818:84 1/1:-1543.68,-220.295,0:746:2:736:20848:28 1/1:-1831.83,-253.302,0:871:4:852:23851:56 1/1:-1399.17,-195.112,0:667:5:654:18280:70 1/1:-2014.01,-282.927,0:975:5:952:26118:70 1/1:-1165.21,-156.794,0:538:2:525:14898:28 1/1:-1798.78,-245.623,0:856:5:834:23432:88 1/1:-2745.86,-361.311,0:1245:9:1222:35134:139 1/1:-1785.31,-245.526,0:843:4:826:23037:56 1/1:-2551.61,-336.913,0:1167:10:1145:32793:140 1/1:-2016.89,-276.279,0:933:2:924:25984:28 1/1:-2106.23,-295.183,0:1012:7:994:27802:98 . 1/1:-2281.17,-264.539,0:894:2:885:26827:28:2,885 1/1:-2405.17,-272.293,0:942:6:920:28388:84:6,920 1/1:-2832.73,-316.152,0:1079:4:1061:33048:74:4,1061 1/1:-1450.14,-163.421,0:553:2:549:17061:28:2,549 1/1:-2138.83,-243.432,0:832:3:816:24819:42:3,816 1/1:-2804.98,-321.814,0:1091:2:1070:32988:28:2,1070 1/1:-2319.37,-265.044,0:918:5:894:27341:70:5,894 1/1:-2386.35,-272.733,0:917:0:906:27970:0:0,906 1/1:-2291.12,-261.089,0:895:4:880:26783:56:4,880 1/1:-2529.08,-292.541,0:989:2:976:29788:28:2,976 1/1:-2726.85,-311.716,0:1077:7:1052:32090:98:7,1052 1/1:-2105.35,-239.977,0:810:1:797:24470:14:1,797 1/1:-2249.22,-260.837,0:885:3:872:26545:49:3,872 1/1:-2269.88,-257.237,0:871:3:866:26643:49:3,866 1/1:-2870.16,-327.22,0:1101:2:1090:34063:28:2,1090 1/1:-2437.94,-279.958,0:939:0:930:28763:0:0,930 1/1:-2908.59,-330.652,0:1128:3:1114:34161:64:3,1114 1/1:-2128.42,-241.322,0:814:2:806:24912:28:2,806 1/1:-2232.82,-253.167,0:848:1:844:25982:14:1,844 1/1:-2428.24,-279.888,0:950:2:936:28711:28:2,936 chr10 112572527 . G A 3868.31 . AB=0.443272;ABP=24.1979;AC=1;AF=0.5;AN=2;AO=336;CIGAR=1X;DP=758;DPB=758;DPRA=0;EPP=31.1619;EPPR=23.6754;GTI=0;LEN=1;MEANALT=3;MQM=28.8363;MQMR=32.2609;NS=1;NUMALT=1;ODDS=890.71;PAIRED=0.964286;PAIREDR=0.925831;PAO=0;PQA=0;PQR=0;PRO=0;QA=9155;QR=11621;RO=391;RPL=254;RPP=194.203;RPPR=274.256;RPR=82;RUN=1;SAF=119;SAP=65.0782;SAR=217;SF=0;SRF=143;SRP=64.2392;SRR=248;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.G2372A:p.R791Q;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.959;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.991;MutationTaster_pred=D;MutationAssessor_score=1.75;MutationAssessor_pred=L;FATHMM_score=-1.23;FATHMM_pred=T;PROVEAN_score=-1.78;PROVEAN_pred=N;VEST3_score=0.284;CADD_raw=6.711;CADD_phred=32;DANN_score=1.000;fathmm-MKL_coding_score=0.817;fathmm-MKL_coding_pred=D;MetaSVM_score=0.010;MetaSVM_pred=D;MetaLR_score=0.583;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.04;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.670;phastCons20way_mammalian=0.733;SiPhy_29way_logOdds=20.595;GDI_full_10282015=.;dpsi_max_tissue=0.0174;dpsi_zscore=0.119;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.613e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.728e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-424.442,0,-636.598:758:391:336:9155:11621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 112581138 . A G 4533.37 . AB=0.414977;ABP=43.2588;AC=1;AF=0.5;AN=2;AO=266;CIGAR=1X;DP=641;DPB=641;DPRA=0;EPP=87.9426;EPPR=80.1154;GTI=0;LEN=1;MEANALT=3;MQM=39.1992;MQMR=39.5328;NS=1;NUMALT=1;ODDS=1043.85;PAIRED=0.973684;PAIREDR=0.986339;PAO=0;PQA=0;PQR=0;PRO=0;QA=7902;QR=11834;RO=366;RPL=97;RPP=45.3295;RPPR=62.3401;RPR=169;RUN=1;SAF=151;SAP=13.5901;SAR=115;SF=1;SRF=199;SRP=9.08568;SRR=167;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon11:c.A2761G:p.I921V;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs397516608;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=9.206e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=53167;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1DD|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2750995,OMIM:613172|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.028;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=-2.95;FATHMM_pred=D;PROVEAN_score=-0.71;PROVEAN_pred=N;VEST3_score=0.396;CADD_raw=4.173;CADD_phred=23.8;DANN_score=0.999;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_pred=D;MetaSVM_score=0.622;MetaSVM_pred=D;MetaLR_score=0.822;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.85;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.243;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=16.230;GDI_full_10282015=.;dpsi_max_tissue=0.0140;dpsi_zscore=0.096;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.266e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=4.174e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=4.382e-05;gnomAD_genome_ALL=9.688e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-476.743,0,-805.893:641:366:266:7902:11834:366,266 . . . . chr10 112581683 . G A 2254.95 . AB=0.419355;ABP=25.7757;AC=1;AF=0.5;AN=2;AO=169;CIGAR=1X;DP=403;DPB=403;DPRA=0;EPP=33.8606;EPPR=22.5536;GTI=0;LEN=1;MEANALT=3;MQM=30.9704;MQMR=32.0444;NS=1;NUMALT=1;ODDS=519.222;PAIRED=0.715976;PAIREDR=0.622222;PAO=0;PQA=0;PQR=0;PRO=0;QA=4958;QR=7083;RO=225;RPL=81;RPP=3.6399;RPPR=17.6895;RPR=88;RUN=1;SAF=46;SAP=79.1917;SAR=123;SF=0;SRF=54;SRP=135.123;SRR=171;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon11:c.G3306A:p.V1102V;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4683;dpsi_zscore=1.100;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-245.289,0,-400.526:403:225:169:4958:7083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 112583189 . CTTTTTTTTTTTTTTTTTTTTTTTTTTTG CTTTTTTTTTTTTTTG,CTTTTTTTTTTTTTG 381.14 . AB=0;ABP=0;AC=17,20;AF=1;AN=38;AO=49;CIGAR=1M14D14M;DP=4790;DPB=164.69;DPRA=0;EPP=3.05462;EPPR=0;GTI=0;LEN=14;MEANALT=77;MQM=16.9796;MQMR=0;NS=1;NUMALT=1;ODDS=32.8937;PAIRED=1;PAIREDR=0;PAO=18;PQA=274;PQR=663;PRO=37;QA=646;QR=0;RO=0;RPL=18;RPP=10.4997;RPPR=0;RPR=31;RUN=1;SAF=34;SAP=19.0083;SAR=15;SF=0;SRF=0;SRP=0;SRR=0;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs202034773;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;ExAC_ALL=0.1927;ExAC_AFR=0.2310;ExAC_AMR=0.1496;ExAC_EAS=0.2251;ExAC_FIN=0.2910;ExAC_NFE=0.2326;ExAC_OTH=0.2120;ExAC_SAS=0.1247;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2062;gnomAD_exome_AFR=0.2649;gnomAD_exome_AMR=0.2015;gnomAD_exome_ASJ=0.2128;gnomAD_exome_EAS=0.2857;gnomAD_exome_FIN=0.1937;gnomAD_exome_NFE=0.2174;gnomAD_exome_OTH=0.2236;gnomAD_exome_SAS=0.1274;gnomAD_genome_ALL=0.3597;gnomAD_genome_AFR=0.3682;gnomAD_genome_AMR=0.2948;gnomAD_genome_ASJ=0.3796;gnomAD_genome_EAS=0.3476;gnomAD_genome_FIN=0.4002;gnomAD_genome_NFE=0.3558;gnomAD_genome_OTH=0.3435;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201149204;Kaviar_AF=0.0012936;Kaviar_AC=200;Kaviar_AN=154602;ExAC_ALL=0.1642;ExAC_AFR=0.1379;ExAC_AMR=0.1299;ExAC_EAS=0.1374;ExAC_FIN=0.2005;ExAC_NFE=0.1866;ExAC_OTH=0.1957;ExAC_SAS=0.1422;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1737;gnomAD_exome_AFR=0.1550;gnomAD_exome_AMR=0.1520;gnomAD_exome_ASJ=0.1846;gnomAD_exome_EAS=0.1691;gnomAD_exome_FIN=0.1656;gnomAD_exome_NFE=0.1871;gnomAD_exome_OTH=0.1889;gnomAD_exome_SAS=0.1555;gnomAD_genome_ALL=0.1254;gnomAD_genome_AFR=0.1059;gnomAD_genome_AMR=0.1098;gnomAD_genome_ASJ=0.125;gnomAD_genome_EAS=0.0988;gnomAD_genome_FIN=0.1459;gnomAD_genome_NFE=0.1368;gnomAD_genome_OTH=0.1301;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 2/2:-19.476,.,.,-11.229,.,0:200:0:.,49:.,646:0 . . . . . . . . . . . . . . . 1/1:-56.4128,-34.9267,0,.,.,.:256:0:73,.:1016,.:0 . . 2/2:-71.047,.,.,-49.6275,.,0:284:0:.,80:.,1070:0 . . . . . . 2/2:-118.549,.,.,-51.4831,.,0:350:0:.,132:.,1818:0 . . 1/1:-35.7712,-23.3441,0,.,.,.:256:0:58,.:809,.:0 . . . . 2/2:-17.3319,.,.,-6.81837,.,0:228:0:.,65:.,914:0 . . . . 2/2:-26.7198,.,.,-18.7038,.,0:180:0:.,46:.,615:0 . 2/2:-70.0814,.,.,-40.6965,.,0:308:1:.,78:.,1294:27 . . 1/1:-13.5931,-7.30271,0,.,.,.:228:0:56,.:770,.:0 1/1:-67.6104,-38.0747,0,.,.,.:274:0:87,.:1209,.:0 2/2:-48.6424,.,.,-21.8532,.,0:190:0:.,63:.,833:0 . . . . 0/1:-15.5866,0,-2.87357,.,.,.:206:0:55,.:739,.:0 . . . . 2/2:-84.1416,.,.,-47.7577,.,0:372:0:.,95:.,1340:0 1/1:-59.9348,-32.539,0,.,.,.:261:0:82,.:1034,.:0 . . . . 1/1:-56.5196,-34.4964,0,.,.,.:251:0:75,.:948,.:0 . . . . . . . 2/2:-15.3571,.,.,-12.202,.,0:153:0:.,47:.,591:0 . . . 1/1:-59.7582,-21.4218,0,.,.,.:282:0:95,.:1180,.:0 . . . . . . . . 2/2:-13.584,.,.,-7.3042,.,0:214:0:.,57:.,706:0 . 1/1:-47.9802,-23.7849,0,.,.,.:297:0:95,.:1126,.:0 . . . . . . . . . . . . . . . . . . . . . . chr10 112583218 . C T 1627.04 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=176;CIGAR=1X;DP=282;DPB=282;DPRA=0;EPP=116.716;EPPR=39.8243;GTI=0;LEN=1;MEANALT=3;MQM=23.6193;MQMR=23.3256;NS=1;NUMALT=1;ODDS=92.6883;PAIRED=0.772727;PAIREDR=0.860465;PAO=0;PQA=0;PQR=0;PRO=0;QA=3843;QR=811;RO=43;RPL=49;RPP=78.0742;RPPR=4.27278;RPR=127;RUN=1;SAF=39;SAP=121.504;SAR=137;SF=0;SRF=25;SRP=5.48477;SRR=18;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs202039414;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0007;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0025;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=198226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1992;dpsi_zscore=-0.686;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0267;gnomAD_exome_AMR=0.0218;gnomAD_exome_ASJ=0.0124;gnomAD_exome_EAS=0.0316;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0068;gnomAD_exome_SAS=0.0040;gnomAD_genome_ALL=0.0112;gnomAD_genome_AFR=0.0194;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0.0016;gnomAD_genome_FIN=0.0256;gnomAD_genome_NFE=0.0066;gnomAD_genome_OTH=0.0115;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-191.522,-11.2831,0:282:43:176:3843:811 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 112590810 . G C 25900.45 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=932;CIGAR=1X;DP=133773;DPB=964;DPRA=0;EPP=34.3615;EPPR=6.48466;GTI=0;LEN=1;MEANALT=3;MQM=33.3466;MQMR=23.1;NS=1;NUMALT=1;ODDS=1238.96;PAIRED=0.874464;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27178;QR=147;RO=10;RPL=304;RPP=247.595;RPPR=3.87889;RPR=628;RUN=1;SAF=530;SAP=41.1835;SAR=402;SF=0,1;SRF=3;SRP=6.48466;SRR=7;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.9713;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9713;esp6500siv2_ea=0.9994;1000g2015aug_all=0.969649;avsnp147=rs7070640;Kaviar_AF=0.305209;Kaviar_AC=47186;Kaviar_AN=154602;ExAC_ALL=0.988;ExAC_AFR=0.8931;ExAC_AMR=0.9878;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=53180;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.6050;dpsi_zscore=2.144;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9937;gnomAD_exome_AFR=0.8961;gnomAD_exome_AMR=0.9951;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9979;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9719;gnomAD_genome_AFR=0.9017;gnomAD_genome_AMR=0.9952;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9949;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2091.23,-273.812,0:964:10:932:27178:147 1/1:-2686.58,-354.623,0:1231:10:1204:34948:147 1/1:-2369.14,-296.992,0:1056:14:1027:30173:203 1/1:-1550.91,-200.372,0:695:4:675:19539:56 1/1:-2334.87,-312.822,0:1092:10:1062:30516:153 1/1:-3536.09,-448.494,0:1582:21:1539:44838:307 1/1:-2094.56,-273.137,0:969:12:941:26802:168 1/1:-2960.17,-380.53,0:1353:19:1318:37667:297 1/1:-2444.93,-304.96,0:1087:16:1052:30951:242 1/1:-2744.89,-370.214,0:1281:9:1252:35629:139 1/1:-2347.37,-297.203,0:1091:18:1056:30358:311 1/1:-2278.56,-301.61,0:1055:12:1030:29489:168 1/1:-2114.89,-279.086,0:970:8:948:27271:112 1/1:-1879.17,-262.085,0:921:12:895:25236:168 1/1:-2040.15,-261.442,0:912:9:893:26483:126 1/1:-3800.62,-499.681,0:1734:18:1699:49411:252 1/1:-1862.18,-252.104,0:879:8:854:24903:130 1/1:-5421.98,-687.576,0:2428:27:2357:69215:423 1/1:-2529.86,-315.28,0:1137:20:1101:32140:311 1/1:-1755.21,-237.664,0:817:5:803:23171:70 1/1:-1907.1,-248.192,0:870:10:850:24659:147 1/1:-2912.53,-377.756,0:1323:17:1291:37220:251 1/1:-1356.94,-185.874,0:651:6:634:18264:84 1/1:-2971,-392.865,0:1370:11:1331:38133:167 1/1:-2955.61,-380.34,0:1361:18:1321:37970:290 1/1:-1851.31,-248.946,0:918:16:877:24745:237 1/1:-2698.96,-356.366,0:1230:8:1206:34817:125 1/1:-2557.53,-327.034,0:1149:12:1117:32509:186 1/1:-1961.73,-265.664,0:933:11:911:25975:154 1/1:-2101.99,-258.987,0:921:14:898:26505:245 1/1:-2174.89,-285.814,0:1010:12:983:28347:175 1/1:-2920.37,-380.466,0:1316:10:1290:37168:153 1/1:-2657.36,-343.45,0:1199:9:1167:34125:126 1/1:-2580.52,-335.168,0:1202:21:1164:33375:307 1/1:-2724.91,-355.393,0:1252:16:1214:35448:273 1/1:-2934.24,-382.17,0:1337:13:1300:37564:222 1/1:-3211.62,-408.168,0:1439:17:1404:40274:251 1/1:-2542.41,-320.121,0:1129:15:1100:32794:210 1/1:-2266.65,-311.548,0:1084:11:1062:29896:161 1/1:-1694.03,-217.596,0:775:11:754:21843:154 1/1:-2954.95,-370.125,0:1308:14:1276:37607:236 1/1:-2580.63,-329.901,0:1163:12:1135:32780:175 1/1:-2635.96,-347.32,0:1201:9:1180:33546:126 1/1:-2390.6,-305.971,0:1065:9:1048:30399:144 1/1:-3093.37,-394.019,0:1395:16:1362:39395:281 1/1:-2796.24,-365.591,0:1295:16:1259:36246:224 1/1:-2582.62,-326.153,0:1135:11:1107:32739:154 1/1:-1449.88,-186.261,0:649:5:635:18411:83 1/1:-1814.8,-230.661,0:809:9:787:22914:126 1/1:-3063.96,-389.418,0:1370:17:1331:39012:260 1/1:-3017.99,-388.042,0:1378:18:1339:39136:283 1/1:-2127.85,-301.759,0:1062:15:1030:29245:223 1/1:-3296.81,-418.768,0:1466:17:1435:41997:251 1/1:-3124.89,-401.907,0:1425:17:1384:39908:256 1/1:-1675.35,-232.219,0:812:6:792:22482:110 1/1:-2097.3,-271.446,0:935:10:918:26797:184 1/1:-2641.91,-345.975,0:1218:15:1191:34039:232 1/1:-1264.39,-171.528,0:635:15:605:17161:241 1/1:-1785.54,-233.516,0:843:15:813:22953:223 1/1:-2603.91,-342.682,0:1189:11:1163:33585:172 1/1:-1525.22,-212.201,0:742:11:723:20479:161 1/1:-3211.83,-418.78,0:1466:12:1429:41010:181 1/1:-2353.02,-291.395,0:1042:13:1011:29187:242 1/1:-1517.63,-210.381,0:744:12:725:20587:168 1/1:-3366.68,-427.998,0:1510:20:1469:43011:287 1/1:-2734.55,-345.814,0:1229:22:1197:35210:308 1/1:-1161.68,-158.724,0:567:11:549:15741:154 1/1:-2410.12,-303.379,0:1064:11:1034:30620:176 1/1:-2235.63,-291.55,0:1031:15:1000:28794:210 1/1:-2491.91,-329.928,0:1175:16:1136:32923:270 1/1:-2632.45,-339.414,0:1188:13:1166:34091:213 1/1:-3379.49,-436.58,0:1513:12:1486:43525:186 1/1:-2739.6,-377.765,0:1298:8:1275:35855:119 1/1:-1495.16,-214.082,0:788:13:753:20923:235 1/1:-2067.31,-275.198,0:948:8:930:27116:125 1/1:-3164.75,-410.771,0:1462:24:1416:40756:379 1/1:-2996.27,-379.274,0:1331:12:1294:38068:168 1/1:-3043.85,-391.588,0:1384:16:1341:38982:224 1/1:-1753.04,-217.956,0:768:9:748:22075:126 1/1:-1618.69,-207.465,0:725:8:710:20833:112 1/1:-2707.96,-353.034,0:1248:18:1217:35319:288 1/1:-2947.86,-387.13,0:1345:12:1315:38141:168 1/1:-2922.37,-386.902,0:1356:17:1325:38352:251 1/1:-2510.17,-320.286,0:1119:10:1092:32396:140 1/1:-2438.56,-313.651,0:1138:19:1104:31874:319 1/1:-2519.98,-320.697,0:1126:13:1099:32176:195 1/1:-1777.74,-226.093,0:824:17:794:23156:251 1/1:-2905.01,-366.151,0:1279:17:1250:36963:295 1/1:-1424.53,-180.551,0:643:9:626:18004:126 1/1:-2241.97,-290.585,0:1058:20:1020:29257:324 1/1:-3399.63,-433.748,0:1513:15:1476:43263:243 1/1:-2650.74,-338.273,0:1189:14:1155:34008:196 1/1:-3358.08,-432.062,0:1503:17:1469:42907:238 1/1:-2881.75,-374.304,0:1295:10:1272:37031:147 1/1:-3055.18,-397.739,0:1403:18:1369:39679:272 . 1/1:-3976.24,-458.029,0:1582:10:1548:46982:180:10,1548 1/1:-3319.32,-375.896,0:1297:8:1268:39065:112:8,1268 1/1:-3738.51,-424.602,0:1464:10:1434:44020:140:10,1434 1/1:-2258.56,-255.761,0:905:10:881:26661:140:10,881 1/1:-2930.82,-331.937,0:1162:9:1131:34696:126:9,1131 1/1:-3668.15,-420.842,0:1439:6:1413:43251:84:6,1413 1/1:-3389.36,-377.962,0:1319:13:1286:39876:195:13,1286 1/1:-3516.13,-399.283,0:1362:5:1337:41091:92:5,1337 1/1:-3181.49,-363.992,0:1259:9:1233:37604:133:9,1233 1/1:-3842.82,-441.871,0:1523:8:1491:45588:112:8,1491 1/1:-3548.61,-402.437,0:1385:7:1359:42055:98:7,1359 1/1:-2689.79,-304.834,0:1037:2:1019:31550:28:2,1019 1/1:-2940.54,-330.519,0:1155:9:1128:34888:133:9,1128 1/1:-2750.94,-313.926,0:1092:7:1065:32368:98:7,1065 1/1:-3524.15,-409.336,0:1435:10:1384:41653:153:10,1384 1/1:-3142.63,-358.226,0:1254:8:1213:36938:112:8,1213 1/1:-3470.34,-393.689,0:1356:10:1335:40931:140:10,1335 1/1:-2883.02,-328.353,0:1128:6:1106:33909:84:6,1106 1/1:-2959.68,-336.117,0:1140:4:1127:34921:56:4,1127 1/1:-3546.62,-402.701,0:1389:8:1359:41990:112:8,1359 chr10 112595719 . G C 5443.46 . AB=0;ABP=0;AC=201;AF=1;AN=226;AO=308;CIGAR=1X;DP=38489;DPB=332;DPRA=0;EPP=133.411;EPPR=27.4756;GTI=0;LEN=1;MEANALT=3;MQM=34.8084;MQMR=28.6667;NS=1;NUMALT=1;ODDS=363.678;PAIRED=0.980519;PAIREDR=0.866667;PAO=0;PQA=0;PQR=0;PRO=0;QA=7259;QR=228;RO=15;RPL=195;RPP=50.4161;RPPR=10.1038;RPR=113;RUN=1;SAF=109;SAP=60.1172;SAR=199;SF=0,1;SRF=10;SRP=6.62942;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon14:c.G3667C:p.E1223Q;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.7584;esp6500siv2_ea=0.8724;esp6500siv2_all=0.7584;esp6500siv2_ea=0.8724;1000g2015aug_all=0.697085;avsnp147=rs942077;Kaviar_AF=0.0048447;Kaviar_AC=749;Kaviar_AN=154602;ExAC_ALL=0.7637;ExAC_AFR=0.4845;ExAC_AMR=0.8094;ExAC_EAS=0.7935;ExAC_FIN=0.9118;ExAC_NFE=0.8681;ExAC_OTH=0.7935;ExAC_SAS=0.7206;CLNALLELEID=53184;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.834;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.322;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.027;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-2.99;FATHMM_pred=D;PROVEAN_score=-0.72;PROVEAN_pred=N;VEST3_score=0.087;CADD_raw=5.504;CADD_phred=26.3;DANN_score=0.997;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.917;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.17;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.979;phastCons20way_mammalian=0.433;SiPhy_29way_logOdds=17.448;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8024;gnomAD_exome_AFR=0.4687;gnomAD_exome_AMR=0.7846;gnomAD_exome_ASJ=0.8473;gnomAD_exome_EAS=0.8006;gnomAD_exome_FIN=0.8629;gnomAD_exome_NFE=0.8665;gnomAD_exome_OTH=0.8161;gnomAD_exome_SAS=0.7186;gnomAD_genome_ALL=0.7555;gnomAD_genome_AFR=0.4870;gnomAD_genome_AMR=0.7912;gnomAD_genome_ASJ=0.8444;gnomAD_genome_EAS=0.7874;gnomAD_genome_FIN=0.8569;gnomAD_genome_NFE=0.8760;gnomAD_genome_OTH=0.8252;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-574.83,-79.03,0:332:15:308:7259:228 0/1:-260.338,0,-356.764:442:220:206:4777:5859 . 1/1:-421.034,-56.3829,0:224:4:210:5161:91 1/1:-745.63,-99.0888,0:399:12:370:9201:194 1/1:-792.632,-109.774,0:413:9:391:9696:126 0/1:-222.359,0,-229.367:298:143:147:3730:3857 0/1:-305.543,0,-308.162:400:181:204:4987:4938 1/1:-507.347,-60.8192,0:281:15:256:6281:278 1/1:-736.566,-97.1456,0:407:19:375:9213:310 1/1:-627.196,-85.8778,0:336:13:317:7782:215 1/1:-579.166,-79.8353,0:315:11:300:7099:154 1/1:-537.871,-73.1082,0:302:12:281:6799:181 1/1:-456.297,-62.2443,0:245:7:228:5661:116 1/1:-429.838,-63.1325,0:236:5:222:5334:70 0/1:-353.229,0,-369.657:516:232:254:6115:6409 1/1:-445.918,-62.0434,0:261:12:241:5853:221 1/1:-1299.61,-182.843,0:705:21:666:16132:344 1/1:-640.011,-76.4707,0:348:18:315:7994:332 0/1:-155.461,0,-192.239:259:117:127:2869:3258 0/1:-146.496,0,-202.926:240:126:106:2608:3437 1/1:-754.89,-98.0348,0:413:18:387:9458:314 0/1:-75.4357,0,-206.48:203:119:77:1746:3300 1/1:-799.007,-112.309,0:422:11:399:9840:172 0/1:-265.187,0,-284.596:403:192:193:4746:5184 1/1:-459.141,-64.0303,0:263:12:249:6148:181 1/1:-583.22,-80.963,0:328:14:309:7197:196 0/1:-233.727,0,-279.991:332:162:160:3935:4544 1/1:-490.677,-69.7451,0:266:4:256:6338:96 1/1:-487.808,-68.7695,0:255:4:243:5913:69 1/1:-580.239,-71.1163,0:311:20:284:7187:311 1/1:-754.233,-96.3862,0:396:17:373:9315:284 1/1:-651.207,-79.7785,0:348:14:317:8039:231 1/1:-701.35,-102.38,0:377:8:359:8596:134 1/1:-589.76,-73.2034,0:309:15:286:7250:248 1/1:-797.24,-107.889,0:423:14:395:9723:196 . 1/1:-670.587,-87.7053,0:349:12:330:8181:193 1/1:-712.241,-103.752,0:412:13:380:8925:195 1/1:-494.652,-66.6937,0:254:6:241:5855:102 1/1:-751.622,-96.2535,0:417:18:388:9441:331 1/1:-596.061,-85.5018,0:322:7:304:7307:98 1/1:-695.285,-91.7517,0:373:14:340:8458:196 1/1:-612.793,-81.6745,0:353:13:319:7801:266 1/1:-939.873,-124.692,0:508:14:468:11685:240 0/1:-170.173,0,-343.518:333:189:133:3203:5206 1/1:-655.635,-91.4813,0:355:10:330:8190:147 0/1:-184.14,0,-154.516:247:102:138:3220:2838 1/1:-486.312,-62.9929,0:258:7:243:6120:174 1/1:-799.836,-112.077,0:431:11:405:9810:172 1/1:-681.959,-96.0746,0:377:11:350:8438:161 1/1:-521.911,-66.4034,0:312:15:285:6858:313 1/1:-858.275,-108.091,0:444:17:411:10570:251 1/1:-838.254,-111.462,0:433:13:409:10208:182 1/1:-452.555,-58.6139,0:261:11:236:5763:205 1/1:-520.647,-71.6367,0:279:7:260:6504:98 1/1:-723.837,-106.419,0:393:8:371:9125:119 1/1:-382.729,-56.753,0:207:5:199:4939:70 1/1:-554.73,-73.5218,0:290:10:271:6872:175 1/1:-713.106,-89.5715,0:403:21:366:8910:307 1/1:-382.235,-51.868,0:215:11:194:4934:167 1/1:-876.829,-121.071,0:473:15:440:10875:210 1/1:-560.934,-71.8922,0:294:10:275:6876:211 0/1:-171.83,0,-200.38:264:131:124:3034:3512 1/1:-859.241,-119.733,0:442:9:422:10464:126 1/1:-697.708,-86.9763,0:374:16:350:8797:279 1/1:-306.097,-46.8733,0:181:4:166:3925:56 0/1:-220.247,0,-303.196:338:181:148:3882:4885 1/1:-609.902,-76.8717,0:307:8:294:7525:165 1/1:-616.672,-84.188,0:325:9:308:7632:157 1/1:-664.524,-95.361,0:372:13:344:8194:202 1/1:-878.13,-125.608,0:450:6:434:10611:84 1/1:-831.761,-120.195,0:445:9:413:10216:133 1/1:-297.315,-46.303,0:189:8:169:3869:112 1/1:-558.942,-79.1428,0:309:9:290:7135:157 0/1:-260.282,0,-309.752:399:205:187:4637:5413 0/1:-275.007,0,-398.741:454:236:203:4910:6504 1/1:-810.996,-108.556,0:448:17:414:10205:311 1/1:-499.038,-60.6417,0:264:11:242:6276:223 0/1:-154.718,0,-142.051:215:91:110:2573:2473 0/1:-239.904,0,-310.972:381:187:181:4302:5256 1/1:-731.57,-91.5365,0:400:17:369:9107:315 1/1:-648.746,-87.7554,0:344:11:323:7989:167 1/1:-601.243,-77.504,0:314:11:292:7405:154 1/1:-589.401,-80.6572,0:331:11:312:7560:202 1/1:-536.139,-71.3794,0:292:12:273:6572:168 1/1:-526.82,-72.2984,0:278:6:266:6471:127 0/1:-241.396,0,-245.366:331:148:170:4112:4085 1/1:-380.649,-50.0584,0:216:9:201:4736:175 0/1:-182.275,0,-285.179:337:176:144:3490:4815 1/1:-753.606,-97.2118,0:401:14:375:9342:238 1/1:-576.01,-74.5492,0:311:14:289:7176:196 1/1:-905.236,-120.447,0:480:17:448:11255:245 1/1:-645.084,-86.544,0:344:11:322:8133:174 1/1:-718.723,-97.8452,0:368:10:347:8856:140 . 0/1:-299.296,0,-331.858:324:166:152:4561:5069:166,152 1/1:-901.623,-99.0749,0:365:3:345:10441:64:3,345 0/1:-429.851,0,-378.907:429:200:220:6423:6017:200,220 0/1:-168.957,0,-174.356:174:81:88:2544:2592:81,88 1/1:-714.593,-82.5695,0:299:3:290:8433:64:3,290 1/1:-912.47,-109.114,0:384:3:372:10723:42:3,372 0/1:-317.657,0,-343.715:346:173:163:4853:5171:173,163 1/1:-850.376,-98.123,0:356:2:345:10128:72:2,345 1/1:-675.921,-73.09,0:276:3:264:7953:82:3,264 1/1:-898.949,-107.593,0:379:4:370:10550:56:4,370 1/1:-890.402,-106.844,0:370:1:358:10592:14:1,358 1/1:-624.292,-68.5083,0:272:6:260:7486:137:6,260 1/1:-710.844,-85.4925,0:290:0:284:8289:0:0,284 0/1:-259.131,0,-319.11:307:161:139:4112:4774:161,139 1/1:-855.815,-97.9455,0:360:5:340:10000:92:5,340 1/1:-791.901,-94.1676,0:323:1:316:9296:14:1,316 1/1:-976.088,-108.308,0:404:6:390:11566:124:6,390 0/1:-231.211,0,-403.866:328:192:131:3802:5844:192,131 1/1:-650.548,-71.8144,0:270:4:263:7717:96:4,263 1/1:-784.207,-96.0183,0:328:1:322:9238:14:1,322 chr10 121411171 . G A 463.18 . AB=0.456897;ABP=4.88226;AC=1;AF=0.5;AN=2;AO=53;CIGAR=1X;DP=116;DPB=116;DPRA=0;EPP=9.93443;EPPR=32.3626;GTI=0;LEN=1;MEANALT=2;MQM=29.717;MQMR=28.3621;NS=1;NUMALT=1;ODDS=106.651;PAIRED=0.943396;PAIREDR=0.793103;PAO=0;PQA=0;PQR=0;PRO=0;QA=1248;QR=1830;RO=58;RPL=11;RPP=42.3836;RPPR=69.053;RPR=42;RUN=1;SAF=38;SAP=24.6841;SAR=15;SF=0;SRF=49;SRP=62.913;SRR=9;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=BAG3;GeneDetail.refGene=NM_004281:c.-17G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0037;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0037;1000g2015aug_all=0.000199681;avsnp147=rs200388926;Kaviar_AF=0.0022639;Kaviar_AC=350;Kaviar_AN=154602;ExAC_ALL=0.0032;ExAC_AFR=0.0008;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0052;ExAC_OTH=0.0034;ExAC_SAS=0.0002;CLNALLELEID=140197;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0.0068;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0012;gnomAD_genome_NFE=0.0035;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-59.3679,0,-89.1794:116:58:53:1248:1830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 121429394 . G A 13730.99 . AB=0.45339;ABP=29.7305;AC=5;AF=0.5;AN=8;AO=642;CIGAR=1X;DP=4717;DPB=1416;DPRA=0;EPP=22.5468;EPPR=3.43865;GTI=0;LEN=1;MEANALT=3;MQM=34.1558;MQMR=35.2548;NS=1;NUMALT=1;ODDS=2296.97;PAIRED=0.903427;PAIREDR=0.876712;PAO=0;PQA=0;PQR=0;PRO=0;QA=18277;QR=21685;RO=730;RPL=327;RPP=3.49736;RPPR=23.9992;RPR=315;RUN=1;SAF=312;SAP=4.10618;SAR=330;SF=0,1;SRF=344;SRP=8.25753;SRR=386;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.G212A:p.R71Q;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.0230;esp6500siv2_ea=0.0326;esp6500siv2_all=0.0230;esp6500siv2_ea=0.0326;1000g2015aug_all=0.00738818;avsnp147=rs35434411;Kaviar_AF=0.0204525;Kaviar_AC=3162;Kaviar_AN=154602;ExAC_ALL=0.0201;ExAC_AFR=0.0030;ExAC_AMR=0.0091;ExAC_EAS=0;ExAC_FIN=0.0355;ExAC_NFE=0.0301;ExAC_OTH=0.0165;ExAC_SAS=0.0031;CLNALLELEID=53947;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.533;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.64;MutationAssessor_pred=N;FATHMM_score=-0.79;FATHMM_pred=T;PROVEAN_score=0.38;PROVEAN_pred=N;VEST3_score=0.102;CADD_raw=2.270;CADD_phred=17.97;DANN_score=0.987;fathmm-MKL_coding_score=0.222;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_pred=T;integrated_fitCons_score=0.834;integrated_confidence_value=0;GERP++_RS=3.12;phyloP7way_vertebrate=-0.230;phyloP20way_mammalian=0.135;phastCons7way_vertebrate=0.115;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=10.329;GDI_full_10282015=.;dpsi_max_tissue=-0.0973;dpsi_zscore=-0.441;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1314465#"Cardiomyopathy_tako-tsubo_increased_risk";gnomAD_exome_ALL=0.0201;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0095;gnomAD_exome_ASJ=0.0053;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0364;gnomAD_exome_NFE=0.0312;gnomAD_exome_OTH=0.0226;gnomAD_exome_SAS=0.0034;gnomAD_genome_ALL=0.0241;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0108;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0366;gnomAD_genome_NFE=0.0351;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1009.08,0,-1301.7:1416:730:642:18277:21685 . . . 0/1:-890.543,0,-1010.65:1153:555:554:15547:16889 . . . . . . . . . . . . . . . 1/1:-2597.58,-326.631,0:1321:26:1224:34058:669 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-820.944,0,-764.624:827:392:425:12488:11814:392,425 . . . . . . . . chr10 121429633 . T C 9713.53 . AB=0.503899;ABP=3.14575;AC=40;AF=0.5;AN=70;AO=517;CIGAR=1X;DP=38779;DPB=1026;DPRA=0;EPP=13.9349;EPPR=15.1635;GTI=0;LEN=1;MEANALT=3;MQM=30.3346;MQMR=33.8345;NS=1;NUMALT=1;ODDS=1317.86;PAIRED=0.905222;PAIREDR=0.90676;PAO=0;PQA=0;PQR=0;PRO=0;QA=13001;QR=11113;RO=429;RPL=211;RPP=40.9166;RPPR=7.8746;RPR=306;RUN=1;SAF=200;SAP=60.506;SAR=317;SF=0,1;SRF=174;SRP=36.2202;SRR=255;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.T451C:p.C151R;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.1511;esp6500siv2_ea=0.2073;esp6500siv2_all=0.1511;esp6500siv2_ea=0.2073;1000g2015aug_all=0.0964457;avsnp147=rs2234962;Kaviar_AF=0.174092;Kaviar_AC=26915;Kaviar_AN=154602;ExAC_ALL=0.1767;ExAC_AFR=0.0386;ExAC_AMR=0.0953;ExAC_EAS=0.0012;ExAC_FIN=0.2257;ExAC_NFE=0.2214;ExAC_OTH=0.1919;ExAC_SAS=0.2109;CLNALLELEID=53950;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.664;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.317;Polyphen2_HVAR_pred=B;LRT_score=0.254;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-1.02;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_pred=N;VEST3_score=0.289;CADD_raw=4.176;CADD_phred=23.8;DANN_score=0.986;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.834;integrated_confidence_value=0;GERP++_RS=0.064;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.123;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=5.413;GDI_full_10282015=.;dpsi_max_tissue=0.0805;dpsi_zscore=0.420;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1111343#"Cardiomyopathy_dilated_reduced_risk";gnomAD_exome_ALL=0.1743;gnomAD_exome_AFR=0.0359;gnomAD_exome_AMR=0.0996;gnomAD_exome_ASJ=0.2201;gnomAD_exome_EAS=0.0011;gnomAD_exome_FIN=0.2273;gnomAD_exome_NFE=0.2177;gnomAD_exome_OTH=0.1811;gnomAD_exome_SAS=0.2103;gnomAD_genome_ALL=0.1475;gnomAD_genome_AFR=0.0370;gnomAD_genome_AMR=0.1098;gnomAD_genome_ASJ=0.2067;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.2334;gnomAD_genome_NFE=0.2062;gnomAD_genome_OTH=0.1803;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-680.653,0,-586.982:1026:429:517:13001:11113 . . . . . 0/1:-531.285,0,-496.681:870:389:435:10737:10025 . 0/1:-781.072,0,-629.07:1106:466:575:14618:12166 . 0/1:-598.898,0,-543.504:883:385:429:11076:10068 . 0/1:-590.629,0,-398.327:775:316:418:10751:8368 . 0/1:-997.422,0,-875.507:1498:646:742:18732:16540 . . . 0/1:-654.226,0,-585.334:969:431:480:12371:11495 0/1:-691.812,0,-588.071:950:409:478:12520:10854 0/1:-709.652,0,-581.53:1017:431:515:13351:11023 . . 0/1:-905.433,0,-745.084:1306:549:681:17070:14293 . . 0/1:-1095.65,0,-1031.15:1619:730:782:20026:19172 . 0/1:-819.261,0,-654.101:1149:486:569:14667:12550 . 1/1:-2536.38,-359.381,0:1291:11:1262:33672:311 . . . . . 0/1:-872.299,0,-782.512:1242:541:619:16036:14319 . . . . 0/1:-675.236,0,-763.475:1156:536:522:13569:14586 . . . 0/1:-699.033,0,-578.166:944:409:469:12321:10688 . 0/1:-422.262,0,-429.783:694:324:318:8128:8446 . . . . . 0/1:-670.732,0,-477.424:905:360:483:12467:9476 0/1:-1047.92,0,-706.863:1364:529:738:18893:14020 . . . . . 0/1:-878.212,0,-731.824:1268:532:640:16421:14011 . . 1/1:-1420.13,-230.381,0:860:14:822:20420:349 . . . 0/1:-1036.88,0,-862.998:1500:636:767:19369:16788 0/1:-580.451,0,-441.098:778:331:386:10215:8632 1/1:-1290.14,-162.802,0:701:22:659:17419:563 . . . . . . . 1/1:-2084.94,-275.919,0:1145:30:1094:28622:789 0/1:-488.673,0,-418.814:730:321:363:9112:7991 . . 0/1:-890.641,0,-679.401:1186:479:614:15888:12552 0/1:-1255.81,0,-895.437:1640:656:874:22498:17384 1/1:-2482.99,-336.874,0:1320:26:1269:33612:631 . . 0/1:-1101.97,0,-1432.77:1348:730:585:17602:21259:730,585 . . . . . . . . . . 0/1:-952.199,0,-774.318:927:424:474:14295:12088:424,474 0/1:-1043.87,0,-964.608:1098:521:539:16223:15000:521,539 0/1:-1084.53,0,-954.966:1090:514:549:16666:14794:514,549 . . . 0/1:-1085.95,0,-989.897:1091:533:536:16453:15322:533,536 . 0/1:-1144.61,0,-1364.24:1333:702:593:17923:20424:702,593 chr10 121429645 . G A 9761.29 . AB=0.492093;ABP=3.59407;AC=1;AF=0.5;AN=2;AO=529;CIGAR=1X;DP=1075;DPB=1075;DPRA=0;EPP=3.0144;EPPR=5.01601;GTI=0;LEN=1;MEANALT=3;MQM=37.8034;MQMR=40.0725;NS=1;NUMALT=1;ODDS=2247.62;PAIRED=0.935728;PAIREDR=0.96374;PAO=0;PQA=0;PQR=0;PRO=0;QA=15677;QR=16476;RO=524;RPL=236;RPP=16.347;RPPR=41.2017;RPR=293;RUN=1;SAF=193;SAP=86.9506;SAR=336;SF=1;SRF=211;SRP=46.1248;SRR=313;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.G463A:p.A155T;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00179712;avsnp147=rs61756328;Kaviar_AF=0.0028525;Kaviar_AC=441;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0006;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0023;ExAC_NFE=0.0046;ExAC_OTH=0.0023;ExAC_SAS=0.0012;CLNALLELEID=53951;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.802;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.061;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=-0.74;FATHMM_pred=T;PROVEAN_score=1.02;PROVEAN_pred=N;VEST3_score=0.235;CADD_raw=0.668;CADD_phred=8.614;DANN_score=0.774;fathmm-MKL_coding_score=0.203;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.060;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_pred=T;integrated_fitCons_score=0.834;integrated_confidence_value=0;GERP++_RS=1.69;phyloP7way_vertebrate=-0.464;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.042;phastCons20way_mammalian=0.900;SiPhy_29way_logOdds=0.918;GDI_full_10282015=.;dpsi_max_tissue=0.1324;dpsi_zscore=0.574;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0029;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0180;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0036;gnomAD_exome_OTH=0.0048;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-993.941,0,-1101.61:1075:524:529:15677:16476:524,529 . . . . . . chr10 121432002 . A G 13561.60 . AB=0.451613;ABP=43.9881;AC=1;AF=0.5;AN=2;AO=910;CIGAR=1X;DP=2015;DPB=2015;DPRA=0;EPP=31.8837;EPPR=117.701;GTI=0;LEN=1;MEANALT=3;MQM=32.7253;MQMR=34.2232;NS=1;NUMALT=1;ODDS=3122.67;PAIRED=0.98022;PAIREDR=0.953684;PAO=0;PQA=0;PQR=0;PRO=0;QA=24922;QR=26429;RO=950;RPL=475;RPP=6.82827;RPPR=57.2194;RPR=435;RUN=1;SAF=413;SAP=19.8476;SAR=497;SF=0;SRF=451;SRP=8.27669;SRR=499;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon3:c.A743G:p.H248R;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs369947845;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.133e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=6.021e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=198232;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=0.506;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.091;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.075;MutationAssessor_pred=M;FATHMM_score=-1.37;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.311;CADD_raw=4.801;CADD_phred=24.8;DANN_score=0.998;fathmm-MKL_coding_score=0.860;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.399;MetaSVM_pred=T;MetaLR_score=0.387;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=6.04;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.924;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.587;GDI_full_10282015=.;dpsi_max_tissue=-0.1937;dpsi_zscore=-0.675;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.848e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=3.594e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1369.77,0,-1503.34:2015:950:910:24922:26429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 121432040 . C T 9017.28 . AB=0.489447;ABP=3.97273;AC=1;AF=0.5;AN=2;AO=487;CIGAR=1X;DP=995;DPB=995;DPRA=0;EPP=3.22878;EPPR=4.96064;GTI=0;LEN=1;MEANALT=3;MQM=39.2752;MQMR=39.391;NS=1;NUMALT=1;ODDS=2076.3;PAIRED=0.971253;PAIREDR=0.967413;PAO=0;PQA=0;PQR=0;PRO=0;QA=14146;QR=15451;RO=491;RPL=216;RPP=16.4984;RPPR=21.6956;RPR=271;RUN=1;SAF=229;SAP=6.76021;SAR=258;SF=1;SRF=206;SRP=30.6114;SRR=285;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon3:c.C781T:p.R261W;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs548032105;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=2.483e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.507e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=174891;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.087;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.059;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.94;FATHMM_pred=T;PROVEAN_score=-1.89;PROVEAN_pred=N;VEST3_score=0.426;CADD_raw=2.527;CADD_phred=19.64;DANN_score=0.981;fathmm-MKL_coding_score=0.348;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.937;MetaSVM_pred=T;MetaLR_score=0.168;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=0.488;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.027;SiPhy_29way_logOdds=10.390;GDI_full_10282015=.;dpsi_max_tissue=-0.2893;dpsi_zscore=-0.837;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.263e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.804e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-910.919,0,-1013.82:995:491:487:14146:15451:491,487 . . . . . . . . . chr10 121432089 . A T 2090.43 . AB=0.356046;ABP=190.565;AC=1;AF=0.5;AN=2;AO=371;CIGAR=1X;DP=1042;DPB=1042;DPRA=0;EPP=4.70182;EPPR=3.06979;GTI=0;LEN=1;MEANALT=3;MQM=20.1779;MQMR=34.2277;NS=1;NUMALT=1;ODDS=481.34;PAIRED=0.956873;PAIREDR=0.910959;PAO=0;PQA=0;PQR=0;PRO=0;QA=9224;QR=15686;RO=584;RPL=196;RPP=5.59148;RPPR=29.2464;RPR=175;RUN=1;SAF=173;SAP=6.66844;SAR=198;SF=0;SRF=272;SRP=8.95954;SRR=312;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon3:c.A830T:p.E277V;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762471704;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.288e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.065e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.982;Polyphen2_HVAR_pred=D;LRT_score=0.006;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-1.21;FATHMM_pred=T;PROVEAN_score=-2.79;PROVEAN_pred=D;VEST3_score=0.733;CADD_raw=5.939;CADD_phred=27.6;DANN_score=0.993;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_pred=D;MetaSVM_score=0.007;MetaSVM_pred=D;MetaLR_score=0.543;MetaLR_pred=D;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=0.768;phastCons20way_mammalian=0.879;SiPhy_29way_logOdds=16.166;GDI_full_10282015=.;dpsi_max_tissue=0.4989;dpsi_zscore=1.131;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.078e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.236e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-227.964,0,-943.951:1042:584:371:9224:15686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 121436068 . T G 5216.63 . AB=0.446154;ABP=21.0168;AC=20;AF=0.5;AN=40;AO=319;CIGAR=1X;DP=14981;DPB=715;DPRA=0;EPP=52.1918;EPPR=8.86185;GTI=0;LEN=1;MEANALT=3;MQM=34.4514;MQMR=35.9395;NS=1;NUMALT=1;ODDS=1060.72;PAIRED=0.956113;PAIREDR=0.913158;PAO=0;PQA=0;PQR=0;PRO=0;QA=8627;QR=11413;RO=380;RPL=199;RPP=45.4936;RPPR=45.274;RPR=120;RUN=1;SAF=144;SAP=9.55195;SAR=175;SF=0;SRF=163;SRP=19.6735;SRR=217;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.T1002G:p.P334P;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.1161;esp6500siv2_ea=0.0881;esp6500siv2_all=0.1161;esp6500siv2_ea=0.0881;1000g2015aug_all=0.155751;avsnp147=rs3858339;Kaviar_AF=0.110755;Kaviar_AC=17123;Kaviar_AN=154602;ExAC_ALL=0.1144;ExAC_AFR=0.1654;ExAC_AMR=0.1793;ExAC_EAS=0.2703;ExAC_FIN=0.1030;ExAC_NFE=0.0846;ExAC_OTH=0.1355;ExAC_SAS=0.0793;CLNALLELEID=53941;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1172;gnomAD_exome_AFR=0.1678;gnomAD_exome_AMR=0.1757;gnomAD_exome_ASJ=0.0766;gnomAD_exome_EAS=0.2677;gnomAD_exome_FIN=0.1064;gnomAD_exome_NFE=0.0861;gnomAD_exome_OTH=0.1055;gnomAD_exome_SAS=0.0791;gnomAD_genome_ALL=0.1259;gnomAD_genome_AFR=0.1644;gnomAD_genome_AMR=0.1615;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.2559;gnomAD_genome_FIN=0.0997;gnomAD_genome_NFE=0.0958;gnomAD_genome_OTH=0.1069;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-479.286,0,-708.071:715:380:319:8627:11413 . . 0/1:-686.074,0,-805.193:898:449:437:11647:13579 . . 0/1:-489.397,0,-712.096:720:383:325:8641:11395 . . 0/1:-557.86,0,-595.079:671:333:328:9264:9775 0/1:-470.654,0,-497.683:604:285:307:8354:8466 . . 0/1:-881.429,0,-955.624:1102:539:545:15010:16023 . . . . . . . . . . 0/1:-502.473,0,-669.074:704:373:319:8626:10663 0/1:-540.943,0,-828.285:803:451:342:9365:13118 . . 0/1:-450.397,0,-634.932:667:360:294:7812:10530 0/1:-846.772,0,-914.006:1053:508:519:13962:15261 . 0/1:-476.207,0,-632.914:690:355:315:8570:10646 . . . . . . . . . . . . . . . 0/1:-613.221,0,-997.781:955:535:407:11326:15901 0/1:-658.558,0,-727.955:831:403:411:11069:12164 . . . 0/1:-357.353,0,-445.437:524:267:245:6702:7792 . . . . . . . . . 0/1:-737.844,0,-1001.4:1007:532:464:12727:16142 . 0/1:-241.356,0,-328.442:382:197:180:4591:5735 . . 0/1:-536.231,0,-559.579:704:337:351:9258:9956 0/1:-512.351,0,-732.068:747:398:342:9149:11806 . . . . . . . . . . . . . 0/1:-425.339,0,-538.169:620:319:289:7682:9180 . 0/1:-404.878,0,-536.511:584:299:274:7343:8944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 121436286 . C T 3507.07 . AB=0.444444;ABP=19.1757;AC=20;AF=0.5;AN=40;AO=268;CIGAR=1X;DP=12528;DPB=603;DPRA=0;EPP=54.8664;EPPR=22.1987;GTI=0;LEN=1;MEANALT=3;MQM=31.8209;MQMR=31.8464;NS=1;NUMALT=1;ODDS=795.598;PAIRED=0.914179;PAIREDR=0.941176;PAO=0;PQA=0;PQR=0;PRO=0;QA=7531;QR=9293;RO=306;RPL=45;RPP=259.73;RPPR=154.275;RPR=223;RUN=1;SAF=199;SAP=139.943;SAR=69;SF=0;SRF=201;SRP=68.4099;SRR=105;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.C1220T:p.P407L;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.1157;esp6500siv2_ea=0.0877;esp6500siv2_all=0.1157;esp6500siv2_ea=0.0877;1000g2015aug_all=0.155551;avsnp147=rs3858340;Kaviar_AF=0.112547;Kaviar_AC=17400;Kaviar_AN=154602;ExAC_ALL=0.1141;ExAC_AFR=0.1649;ExAC_AMR=0.1789;ExAC_EAS=0.2691;ExAC_FIN=0.1030;ExAC_NFE=0.0844;ExAC_OTH=0.1361;ExAC_SAS=0.0786;CLNALLELEID=53943;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.191;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.1;Polyphen2_HVAR_pred=B;LRT_score=0.279;LRT_pred=N;MutationTaster_score=0.226;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_pred=D;VEST3_score=0.068;CADD_raw=3.244;CADD_phred=22.8;DANN_score=0.990;fathmm-MKL_coding_score=0.738;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.093;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.73;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.064;SiPhy_29way_logOdds=20.260;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1111345#"Cardiomyopathy_dilated_increased_risk";gnomAD_exome_ALL=0.1169;gnomAD_exome_AFR=0.1675;gnomAD_exome_AMR=0.1753;gnomAD_exome_ASJ=0.0764;gnomAD_exome_EAS=0.2675;gnomAD_exome_FIN=0.1064;gnomAD_exome_NFE=0.0860;gnomAD_exome_OTH=0.1055;gnomAD_exome_SAS=0.0786;gnomAD_genome_ALL=0.1263;gnomAD_genome_AFR=0.1648;gnomAD_genome_AMR=0.1635;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.2584;gnomAD_genome_FIN=0.0997;gnomAD_genome_NFE=0.0960;gnomAD_genome_OTH=0.1069;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-400.837,0,-509.362:603:306:268:7531:9293 . . 0/1:-499.199,0,-523.941:718:322:351:9717:9979 . . 0/1:-377.587,0,-517.64:608:302:272:7343:9504 . . 0/1:-428.562,0,-416.23:591:258:309:7987:7688 0/1:-336.413,0,-484.516:564:300:242:6547:9027 . . 0/1:-590.221,0,-642.126:814:393:386:11071:11946 . . . . . . . . . . 0/1:-411.368,0,-557.672:655:335:296:8016:10096 0/1:-372.299,0,-603.232:676:349:285:7377:10679 . . 0/1:-354.862,0,-380.728:505:231:248:6773:7022 0/1:-496.766,0,-655.102:803:398:365:10026:12103 . 0/1:-340.341,0,-573.816:656:351:272:7371:10569 . . . . . . . . . . . . . . . 0/1:-500.195,0,-733.797:817:427:354:9911:13079 0/1:-365.246,0,-572.438:641:327:279:7609:10312 . . . 0/1:-264.408,0,-320.978:429:205:196:5263:6192 . . . . . . . . . 0/1:-479.047,0,-671.152:806:412:349:9741:12348 . 0/1:-107.466,0,-335.336:336:214:106:2873:6322 . . 0/1:-388.733,0,-508.773:639:318:291:7649:9747 0/1:-440.291,0,-529.519:665:311:319:8510:9604 . . . . . . . . . . . . . 0/1:-375.672,0,-351.802:512:222:262:7147:6889 . 0/1:-315.415,0,-418.864:490:250:221:6429:7748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr10 121436362 . A G 15342.30 . AB=0;ABP=0;AC=195;AF=1;AN=226;AO=730;CIGAR=1X;DP=97201;DPB=759;DPRA=0;EPP=35.1838;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=33.6096;MQMR=35.3333;NS=1;NUMALT=1;ODDS=961.152;PAIRED=0.886301;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20434;QR=181;RO=6;RPL=374;RPP=3.97408;RPPR=4.45795;RPR=356;RUN=1;SAF=429;SAP=51.7465;SAR=301;SF=0,1;SRF=5;SRP=8.80089;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.A1296G:p.V432V;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.7703;esp6500siv2_ea=0.7792;esp6500siv2_all=0.7703;esp6500siv2_ea=0.7792;1000g2015aug_all=0.70647;avsnp147=rs196295;Kaviar_AF=0.740042;Kaviar_AC=114412;Kaviar_AN=154602;ExAC_ALL=0.7409;ExAC_AFR=0.7517;ExAC_AMR=0.6310;ExAC_EAS=0.5208;ExAC_FIN=0.7299;ExAC_NFE=0.7819;ExAC_OTH=0.7632;ExAC_SAS=0.7637;CLNALLELEID=53944;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7384;gnomAD_exome_AFR=0.7530;gnomAD_exome_AMR=0.6405;gnomAD_exome_ASJ=0.8181;gnomAD_exome_EAS=0.5160;gnomAD_exome_FIN=0.7422;gnomAD_exome_NFE=0.7841;gnomAD_exome_OTH=0.7623;gnomAD_exome_SAS=0.7641;gnomAD_genome_ALL=0.7508;gnomAD_genome_AFR=0.7533;gnomAD_genome_AMR=0.6439;gnomAD_genome_ASJ=0.8079;gnomAD_genome_EAS=0.5216;gnomAD_genome_FIN=0.7437;gnomAD_genome_NFE=0.7798;gnomAD_genome_OTH=0.7622;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1559.74,-206.736,0:759:6:730:20434:181 0/1:-794.096,0,-690.044:969:424:503:13913:12479 1/1:-1939.46,-250.104,0:901:7:872:24876:195 . 0/1:-773.139,0,-663.046:934:421:478:13746:12210 1/1:-2260.96,-312.962,0:1084:5:1048:29516:70 0/1:-612.253,0,-620.554:813:373:410:11272:11019 1/1:-1964.89,-264.96,0:966:10:924:25324:227 1/1:-1727.96,-235.014,0:808:4:785:22450:83 1/1:-2167.01,-286.666,0:1047:9:1009:28227:230 1/1:-1625.17,-231.793,0:785:0:770:21100:0 1/1:-1795.52,-244.135,0:830:0:811:23043:0 0/1:-602.472,0,-669.551:804:394:376:10716:11686 1/1:-1409.2,-202.454,0:710:3:680:18726:60 1/1:-1495.4,-207.959,0:716:2:695:19137:28 1/1:-2486.62,-342.33,0:1185:4:1149:32276:91 1/1:-1219.12,-171.888,0:584:0:571:15621:0 0/1:-1302.88,0,-1518.85:1740:862:815:23316:25576 1/1:-2129.95,-278.287,0:972:7:946:27035:152 1/1:-1209.4,-174.558,0:598:1:581:16147:14 1/1:-1443.84,-194.605,0:691:4:665:18723:78 1/1:-1959.81,-271.602,0:930:2:913:25419:72 1/1:-1036.33,-144.4,0:498:2:484:13517:28 1/1:-2265.11,-297.855,0:1050:4:1019:28939:114 0/1:-853.18,0,-867.956:1069:508:530:14888:14751 0/1:-398.107,0,-570.938:661:341:288:7812:10041 1/1:-1864.64,-257.348,0:887:2:861:24216:28 1/1:-1903.54,-246.392,0:886:8:851:24408:176 1/1:-1201.43,-164.265,0:614:7:584:16279:173 1/1:-1632.88,-211.728,0:727:2:714:20646:50 1/1:-1532.35,-211.21,0:721:1:703:19857:32 1/1:-2508.85,-346.486,0:1169:0:1151:32927:0 1/1:-2014.87,-274.522,0:964:5:937:26249:114 1/1:-1805.07,-246.934,0:880:6:855:23952:149 1/1:-2156.11,-277.297,0:987:7:965:27478:226 0/1:-784.812,0,-730.302:971:463:473:13723:13378 1/1:-2238.09,-302.81,0:1060:4:1029:29311:92 1/1:-1805.74,-241.409,0:845:4:821:23204:78 1/1:-1688.03,-235.341,0:822:6:800:22182:102 0/1:-464.647,0,-424.88:605:283:304:8236:7864 1/1:-2499.92,-331.977,0:1157:4:1130:31978:107 0/1:-736.602,0,-625.403:844:381:434:12241:11330 . 0/1:-734.318,0,-778.546:942:452:458:13057:13296 1/1:-2221.86,-299.824,0:1051:5:1025:29182:130 1/1:-1895.71,-258.394,0:930:5:898:24612:154 0/1:-753.276,0,-731.453:931:431:473:13411:12801 0/1:-346.071,0,-479.65:529:279:232:6428:8208 0/1:-571.279,0,-689.145:811:397:383:10468:11582 1/1:-2572.42,-348.588,0:1195:6:1165:33220:84 1/1:-2015.73,-258.438,0:962:9:917:26276:272 1/1:-1453.68,-196.718,0:727:8:696:19174:196 1/1:-2407.06,-322.262,0:1104:1:1079:30753:32 1/1:-2248.19,-306.581,0:1071:3:1038:28978:77 0/1:-487.262,0,-426.321:625:288:317:8762:8287 1/1:-1473.12,-202.685,0:697:3:679:18670:55 1/1:-2057.92,-278.483,0:971:3:939:26186:73 1/1:-938.154,-133.507,0:469:2:449:12510:41 0/1:-451.824,0,-466.351:593:278:289:7993:8027 1/1:-1965.31,-253.363,0:922:8:887:25520:213 0/1:-384.277,0,-356.763:507:224:263:7267:6578 1/1:-2217.69,-307.261,0:1075:4:1038:29457:96 1/1:-1743.01,-235.058,0:825:4:795:22368:125 0/1:-489.121,0,-415.934:599:257:312:8796:7622 1/1:-2321.33,-322.372,0:1101:3:1081:30803:77 1/1:-1903.91,-255.432,0:878:1:857:24226:32 1/1:-826.932,-123.917,0:438:4:419:11244:78 1/1:-1916.54,-263.379,0:913:3:889:24887:86 0/1:-611.967,0,-659.964:824:400:386:10890:11542 1/1:-1866.21,-252.229,0:887:5:862:24218:110 1/1:-1926.52,-264.314,0:902:2:879:24913:28 0/1:-984.296,0,-944.08:1192:565:593:16914:16503 0/1:-845.606,0,-930.927:1130:547:537:15091:15864 1/1:-929.318,-140.648,0:500:4:473:12700:56 1/1:-1686.67,-226.089,0:795:4:770:21827:78 1/1:-1951.38,-268.572,0:950:4:914:25284:100 1/1:-1985.38,-273.581,0:937:1:912:25618:14 1/1:-2059.85,-255.323,0:993:18:952:27056:478 1/1:-1236.82,-172.092,0:598:2:576:16279:28 1/1:-1065.76,-143.317,0:510:4:491:13802:87 1/1:-1846.77,-245.484,0:863:6:839:24055:157 1/1:-2274.57,-319.966,0:1099:2:1073:29553:41 0/1:-676.688,0,-795.054:975:485:453:12546:14029 0/1:-629.948,0,-662.206:837:402:410:11158:11529 1/1:-1521.91,-210.176,0:753:6:731:19885:153 1/1:-1735.05,-237.882,0:837:5:810:22916:154 1/1:-1426.43,-192.348,0:723:9:688:18668:241 1/1:-2027.56,-269.114,0:932:2:909:26132:63 0/1:-370.167,0,-462.399:530:264:246:6685:7755 0/1:-689.392,0,-838.845:973:494:445:12450:14448 1/1:-2784.59,-375.051,0:1293:2:1252:35759:28 0/1:-598.426,0,-595.379:811:370:402:10825:10560 1/1:-2435.78,-326.279,0:1115:3:1093:31111:64 1/1:-1978.19,-267.614,0:941:5:911:25777:110 0/1:-825.905,0,-862.51:1091:514:528:14488:15109 . 1/1:-2119.35,-237.815,0:817:2:807:24934:64:2,807 1/1:-2175.81,-246.243,0:828:0:818:25392:0:0,818 0/1:-961.895,0,-840.479:911:421:473:14483:13150:421,473 1/1:-1320.66,-153.116,0:523:2:515:15676:28:2,515 0/1:-694.601,0,-697.883:698:341:342:10594:10688:341,342 1/1:-2673.98,-301.869,0:1042:3:1025:31824:86:3,1025 1/1:-2106.19,-228.983,0:821:6:803:24850:164:6,803 1/1:-1944.61,-218.522,0:785:6:769:23389:168:6,769 0/1:-629.887,0,-914.365:764:429:323:10008:13621:429,323 1/1:-2131.2,-237.076,0:858:8:835:25613:188:8,835 1/1:-2515.41,-272.599,0:967:5:948:29782:167:5,948 1/1:-1690.88,-186.712,0:669:5:653:20082:128:5,653 1/1:-1732.91,-191.145,0:670:2:654:20378:72:2,654 1/1:-1966.63,-217.174,0:773:6:756:23606:150:6,756 1/1:-2170.96,-240.378,0:845:3:826:25534:104:3,826 1/1:-2261.55,-260.741,0:903:4:885:26885:78:4,885 1/1:-2335.53,-248.296,0:932:10:904:27969:304:10,904 1/1:-1858.32,-203.384,0:723:5:706:21952:145:5,706 0/1:-700.674,0,-761.058:736:378:345:10856:11699:378,345 1/1:-2099.15,-240.045,0:836:4:821:25298:118:4,821 chr11 534197 . C T 7655.98 . AB=0.433333;ABP=47.0188;AC=6;AF=0.5;AN=12;AO=494;CIGAR=1X;DP=6846;DPB=1140;DPRA=0;EPP=5.13782;EPPR=36.6699;GTI=0;LEN=1;MEANALT=3;MQM=31.585;MQMR=31.4185;NS=1;NUMALT=1;ODDS=1511.4;PAIRED=0.898785;PAIREDR=0.891269;PAO=0;PQA=0;PQR=0;PRO=0;QA=13648;QR=18308;RO=607;RPL=179;RPP=84.313;RPPR=20.0422;RPR=315;RUN=1;SAF=319;SAP=94.1594;SAR=175;SF=0,1;SRF=340;SRP=22.0742;SRR=267;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.0321;esp6500siv2_ea=0.0431;esp6500siv2_all=0.0321;esp6500siv2_ea=0.0431;1000g2015aug_all=0.0766773;avsnp147=rs41258054;Kaviar_AF=0.0639125;Kaviar_AC=9881;Kaviar_AN=154602;ExAC_ALL=0.0676;ExAC_AFR=0.0100;ExAC_AMR=0.2048;ExAC_EAS=0.1441;ExAC_FIN=0.0204;ExAC_NFE=0.0401;ExAC_OTH=0.0648;ExAC_SAS=0.0937;CLNALLELEID=48902;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5100;dpsi_zscore=-1.101;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0735;gnomAD_exome_AFR=0.0097;gnomAD_exome_AMR=0.1945;gnomAD_exome_ASJ=0.0432;gnomAD_exome_EAS=0.1441;gnomAD_exome_FIN=0.0231;gnomAD_exome_NFE=0.0417;gnomAD_exome_OTH=0.0690;gnomAD_exome_SAS=0.0939;gnomAD_genome_ALL=0.0413;gnomAD_genome_AFR=0.0080;gnomAD_genome_AMR=0.1683;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.1310;gnomAD_genome_FIN=0.0260;gnomAD_genome_NFE=0.0474;gnomAD_genome_OTH=0.0450;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-684.527,0,-990.697:1140:607:494:13648:18308 . . . . . . . . . 0/1:-583.837,0,-757.883:863:430:395:11036:13531 . . . . . . . . . . . 0/1:-791.184,0,-1094.39:1268:654:549:15506:20415 . . . . . . . . . . . . . . . . . . . . . . 0/1:-788.247,0,-1222.57:1331:710:562:15031:21974 . . . . . 0/1:-550.31,0,-696.739:871:440:388:10456:13523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1328.48,0,-1411.63:1373:666:682:20412:21245:666,682 . . . . . . . . . . . . . . . . . chr11 534242 . A G 15779.81 . AB=0.463776;ABP=23.7763;AC=89;AF=0.5;AN=150;AO=845;CIGAR=1X;DP=123216;DPB=1822;DPRA=0;EPP=63.1665;EPPR=11.7087;GTI=0;LEN=1;MEANALT=3;MQM=29.297;MQMR=33.5731;NS=1;NUMALT=1;ODDS=2561.27;PAIRED=0.854438;PAIREDR=0.889528;PAO=0;PQA=0;PQR=0;PRO=0;QA=22839;QR=24874;RO=869;RPL=400;RPP=8.21412;RPPR=22.8034;RPR=445;RUN=1;SAF=472;SAP=28.1968;SAR=373;SF=0,1;SRF=525;SRP=84.8741;SRR=344;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon2:c.T81C:p.H27H,HRAS:NM_005343:exon2:c.T81C:p.H27H,HRAS:NM_176795:exon2:c.T81C:p.H27H;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.3545;esp6500siv2_ea=0.3441;esp6500siv2_all=0.3545;esp6500siv2_ea=0.3441;1000g2015aug_all=0.297125;avsnp147=rs12628;Kaviar_AF=0.313334;Kaviar_AC=48442;Kaviar_AN=154602;ExAC_ALL=0.3135;ExAC_AFR=0.3771;ExAC_AMR=0.3680;ExAC_EAS=0.1893;ExAC_FIN=0.2630;ExAC_NFE=0.3297;ExAC_OTH=0.2805;ExAC_SAS=0.2579;CLNALLELEID=48901;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1883;dpsi_zscore=0.700;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM035804#"Bladder_cancer_association_with";gnomAD_exome_ALL=0.3157;gnomAD_exome_AFR=0.3789;gnomAD_exome_AMR=0.3814;gnomAD_exome_ASJ=0.2712;gnomAD_exome_EAS=0.1885;gnomAD_exome_FIN=0.2675;gnomAD_exome_NFE=0.3384;gnomAD_exome_OTH=0.3086;gnomAD_exome_SAS=0.2520;gnomAD_genome_ALL=0.3432;gnomAD_genome_AFR=0.3836;gnomAD_genome_AMR=0.3600;gnomAD_genome_ASJ=0.2616;gnomAD_genome_EAS=0.2135;gnomAD_genome_FIN=0.2675;gnomAD_genome_NFE=0.3542;gnomAD_genome_OTH=0.3134;Whole_Blood=Whole_Blood::0.323848::0.0983752;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1129.9,0,-1374.01:1822:869:845:22839:24874 . 0/1:-624.448,0,-904.565:1086:555:467:12572:15498 . 0/1:-1374.9,0,-1669.42:2203:1037:1027:27781:29901 . 0/1:-1249.83,0,-1422.44:1924:910:907:24687:25652 0/1:-1063.55,0,-1228.15:1609:765:743:20335:21865 1/1:-3079.99,-433.013,0:1577:17:1517:42011:377 0/1:-962.385,0,-1142:1422:690:664:18381:19890 0/1:-984.588,0,-1087.07:1475:685:702:19214:19380 0/1:-889.062,0,-1055.27:1384:676:639:17694:19145 0/1:-863.214,0,-875.776:1353:608:668:17944:16960 . 0/1:-1629.6,0,-1962.16:2458:1180:1142:31459:34310 . 0/1:-2194.16,0,-3023.31:3532:1777:1588:43800:51337 . 0/1:-745.364,0,-985.312:1280:626:576:15708:17865 0/1:-886.224,0,-913.987:1273:597:621:17127:16891 0/1:-1171.41,0,-1141.06:1725:777:841:22947:21208 . 0/1:-1170.14,0,-1730.32:2043:1037:881:23889:28976 0/1:-1162.99,0,-1255.14:1749:825:843:22912:23181 0/1:-720.5,0,-985.617:1309:652:582:15685:18364 0/1:-1171.34,0,-1317.17:1773:851:811:22413:23791 . 1/1:-2453.32,-373.734,0:1315:9:1274:33931:184 . 0/1:-850.893,0,-1147.98:1410:704:623:16925:20180 . . . . . 0/1:-1545.09,0,-2022.54:2447:1228:1076:30365:35030 0/1:-751.369,0,-1094.57:1298:673:550:15448:19158 . 0/1:-695.624,0,-849.218:1146:553:525:14342:15418 0/1:-1113.56,0,-1506.21:1799:908:802:21967:25668 . 0/1:-971.166,0,-1334.2:1666:842:740:20226:23767 . 0/1:-1083.41,0,-1315.24:1686:818:781:21629:23888 0/1:-1017.11,0,-1422.29:1743:894:753:20672:24823 . 0/1:-632.152,0,-651.172:885:408:432:12064:11791 0/1:-825.78,0,-950.625:1245:612:563:15942:17229 . 1/1:-3455.74,-484.881,0:1763:17:1698:46794:423 . 0/1:-1269.37,0,-1496.41:1903:909:892:24084:26092 0/1:-1354.3,0,-1650.37:2133:1030:983:26757:28998 . 0/1:-781.651,0,-1064.54:1306:637:597:15973:18337 . 0/1:-546.398,0,-755.727:977:483:437:11827:13514 1/1:-2176.03,-318.945,0:1148:9:1108:29612:227 . 0/1:-494.896,0,-935.282:1131:584:450:11695:16507 0/1:-1358.97,0,-1412.48:1970:912:969:26730:26038 0/1:-1066.99,0,-1180.84:1591:737:766:20720:20579 0/1:-831.389,0,-867.032:1222:561:594:16198:16135 . . 0/1:-615.524,0,-627.757:941:423:457:12365:11956 1/1:-2552.46,-350.777,0:1337:22:1282:35222:577 1/1:-2934.45,-424.309,0:1518:9:1470:40215:250 1/1:-3215.99,-459.971,0:1734:23:1663:45089:639 0/1:-1145.73,0,-1061.92:1616:710:807:21755:19844 . 0/1:-993.295,0,-1502.75:1793:930:757:20931:26435 . 0/1:-1000.26,0,-971.439:1332:603:659:18308:17365 . . 1/1:-3344.35,-484.158,0:1790:22:1707:47073:522 0/1:-656.508,0,-705.763:1008:476:485:13096:13441 0/1:-724.136,0,-694.049:1024:460:516:14000:12943 0/1:-1096.54,0,-1241.18:1687:799:795:21601:22255 0/1:-1307.68,0,-1465.37:2020:954:978:26070:26964 0/1:-1183.98,0,-1476.99:1887:911:879:23158:25643 0/1:-984.554,0,-1206.21:1584:768:740:20161:21294 0/1:-927.871,0,-1169.8:1625:754:746:19590:21409 1/1:-2938.87,-429.832,0:1518:9:1468:40449:210 0/1:-808.448,0,-900.371:1225:577:577:15995:16379 0/1:-1153.6,0,-1203.61:1724:793:837:22526:22490 0/1:-662.304,0,-709.757:980:449:477:12729:12876 0/1:-1028.98,0,-990.042:1417:641:703:19459:18005 0/1:-1471.91,0,-1740.69:2201:1048:1040:28463:30162 0/1:-1067.44,0,-1118.35:1551:712:750:20365:20221 . . 0/1:-1150.62,0,-1563.64:1949:955:886:23655:27390 . 1/1:-5453.3,-591.417,0:2123:16:2081:64945:453:16,2081 0/1:-1769.23,0,-2120.56:1965:1027:902:27991:31796:1027,902 . . 1/1:-4105.41,-437.378,0:1625:18:1585:49691:513:18,1585 1/1:-4630.11,-508.516,0:1809:16:1770:55674:372:16,1770 0/1:-1639.8,0,-1858.91:1715:889:796:25359:27697:889,796 1/1:-5244.58,-578.379,0:2034:9:2001:62937:312:9,2001 . 1/1:-5213.07,-540.614,0:2057:30:1999:62444:821:30,1999 0/1:-1719.82,0,-2101.41:1873:986:864:26894:30905:986,864 . . . 0/1:-1851.73,0,-2463.76:2149:1158:952:30054:36252:1158,952 0/1:-1566.41,0,-2193.62:1892:1045:815:25493:32109:1045,815 0/1:-1864.13,0,-2250.77:2051:1069:942:29613:33296:1069,942 0/1:-1603.36,0,-1781.65:1681:866:791:24928:26837:866,791 . . chr11 534332 . G A 6313.21 . AB=0.372608;ABP=142.984;AC=20;AF=0.5;AN=40;AO=370;CIGAR=1X;DP=26535;DPB=993;DPRA=0;EPP=15.4288;EPPR=4.29892;GTI=0;LEN=1;MEANALT=3;MQM=32.2892;MQMR=32.3326;NS=1;NUMALT=1;ODDS=855.179;PAIRED=0.910811;PAIREDR=0.856263;PAO=0;PQA=0;PQR=0;PRO=0;QA=8639;QR=13869;RO=487;RPL=283;RPP=228.468;RPPR=275.042;RPR=87;RUN=1;SAF=149;SAP=33.4344;SAR=221;SF=0,1;SRF=218;SRP=14.6078;SRR=269;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=HRAS;GeneDetail.refGene=NM_001130442:c.-10C>T,NM_176795:c.-10C>T,NM_005343:c.-10C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.0349;esp6500siv2_ea=0.0462;esp6500siv2_all=0.0349;esp6500siv2_ea=0.0462;1000g2015aug_all=0.0357428;avsnp147=rs41294870;Kaviar_AF=0.0432983;Kaviar_AC=6694;Kaviar_AN=154602;ExAC_ALL=0.0475;ExAC_AFR=0.0171;ExAC_AMR=0.0329;ExAC_EAS=0.0002;ExAC_FIN=0.0337;ExAC_NFE=0.0573;ExAC_OTH=0.0453;ExAC_SAS=0.0668;CLNALLELEID=141259;CLNDN=Costello_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0831;dpsi_zscore=-0.395;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0440;gnomAD_exome_AFR=0.0153;gnomAD_exome_AMR=0.0289;gnomAD_exome_ASJ=0.0993;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0310;gnomAD_exome_NFE=0.0500;gnomAD_exome_OTH=0.0546;gnomAD_exome_SAS=0.0665;gnomAD_genome_ALL=0.0331;gnomAD_genome_AFR=0.0181;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.1192;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0289;gnomAD_genome_NFE=0.0430;gnomAD_genome_OTH=0.0460;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-409.852,0,-786.962:993:487:370:8639:13869 . . . . . . 0/1:-720.806,0,-1054.85:1554:744:635:14685:21100 . . . . 0/1:-549.267,0,-655.902:1089:478:470:10999:13759 . 0/1:-386.117,0,-878.406:1044:538:379:8638:15057 . . . . . . . . . 0/1:-553.857,0,-898.911:1372:656:526:11942:19154 . . 0/1:-582.149,0,-932.524:1229:581:527:12026:16677 . 0/1:-453.549,0,-950.707:1120:550:440:9798:16174 . . . . 0/1:-488.978,0,-1098.01:1255:649:466:10760:18508 . . . . 0/1:-422.912,0,-511.587:883:397:364:8323:11015 . . . . 0/1:-685.761,0,-916.568:1404:657:589:13470:19148 . . . . 0/1:-598.278,0,-1410.73:1580:841:584:13378:24320 . . 0/1:-745.159,0,-943.501:1432:676:611:14431:19557 . . . 0/1:-735.141,0,-1305.08:1627:799:635:14918:22562 . . . . . . . . . . . . . . 0/1:-759.635,0,-1328.44:1725:821:680:15381:23344 0/1:-788.306,0,-823.991:1483:630:668:15195:18283 . . . . . 0/1:-378.733,0,-563.807:829:398:340:7890:11256 . . 0/1:-716.228,0,-1039.17:1513:703:622:14564:20657 . . . . . . . . . . . 0/1:-651.137,0,-1332.36:1651:829:624:14411:23567 . . . 0/1:-1252.36,0,-1256.92:1486:674:736:19489:20629:674,736 . . . . . . . . . . . . . . . 0/1:-939.205,0,-1157.54:1266:611:588:15088:18701:611,588 . . chr11 2466368 . C A 23.10 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=24;MQMR=0;NS=1;NUMALT=1;ODDS=5.3134;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=46;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon1:c.C40A:p.R14S;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.430;LRT_pred=U;MutationTaster_score=0.929;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-5.87;FATHMM_pred=D;PROVEAN_score=0.0;PROVEAN_pred=N;VEST3_score=0.189;CADD_raw=6.197;CADD_phred=28.7;DANN_score=0.988;fathmm-MKL_coding_score=0.098;fathmm-MKL_coding_pred=N;MetaSVM_score=0.645;MetaSVM_pred=D;MetaLR_score=0.920;MetaLR_pred=D;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=1.68;phyloP7way_vertebrate=-0.183;phyloP20way_mammalian=0.686;phastCons7way_vertebrate=0.858;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=5.032;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3.5117,-0.60206,0:2:0:2:46:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2466419 . G A 31.26 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=23;MQMR=0;NS=1;NUMALT=1;ODDS=7.19725;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=72;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon1:c.G91A:p.A31T;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.863;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-5.67;FATHMM_pred=D;PROVEAN_score=-0.53;PROVEAN_pred=N;VEST3_score=0.21;CADD_raw=3.160;CADD_phred=22.6;DANN_score=0.994;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=0.648;MetaSVM_pred=D;MetaLR_score=0.886;MetaLR_pred=D;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=-0.002;phyloP7way_vertebrate=0.809;phyloP20way_mammalian=0.763;phastCons7way_vertebrate=0.249;phastCons20way_mammalian=0.973;SiPhy_29way_logOdds=3.796;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.32984,-0.60206,0:2:0:2:72:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2466433 . C A 51.37 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=8;NS=1;NUMALT=1;ODDS=7.63569;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=72;QR=68;RO=2;RPL=0;RPP=7.35324;RPPR=7.35324;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon1:c.C105A:p.P35P;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=371342;CLNDN=Long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.45101,0,-0.31395:4:2:2:72:68 . . . . . . . . . . . . . . . . . . . . . . . chr11 2466436 . C A 46.64 . AB=0.666667;ABP=4.45795;AC=1;AF=0.5;AN=2;AO=4;CIGAR=1X;DP=6;DPB=6;DPRA=0;EPP=3.0103;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=0.95023;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=122;QR=72;RO=2;RPL=0;RPP=11.6962;RPPR=7.35324;RPR=4;RUN=1;SAF=2;SAP=3.0103;SAR=2;SF=0;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon1:c.C108A:p.F36L;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=0.224;LRT_pred=U;MutationTaster_score=0.887;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-5.54;FATHMM_pred=D;PROVEAN_score=-0.04;PROVEAN_pred=N;VEST3_score=0.241;CADD_raw=2.245;CADD_phred=17.80;DANN_score=0.992;fathmm-MKL_coding_score=0.123;fathmm-MKL_coding_pred=N;MetaSVM_score=0.417;MetaSVM_pred=D;MetaLR_score=0.859;MetaLR_pred=D;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=0.597;phyloP7way_vertebrate=-0.184;phyloP20way_mammalian=0.690;phastCons7way_vertebrate=0.577;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=5.996;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-9.2082,0,-4.84895:6:2:4:122:72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2591837 . C T 6783.92 . AB=0.433553;ABP=43.6993;AC=1;AF=0.5;AN=2;AO=460;CIGAR=1X;DP=1061;DPB=1061;DPRA=0;EPP=133.091;EPPR=14.358;GTI=0;LEN=1;MEANALT=3;MQM=33.1717;MQMR=33.1667;NS=1;NUMALT=1;ODDS=1562.05;PAIRED=0.932609;PAIREDR=0.88172;PAO=0;PQA=0;PQR=0;PRO=0;QA=13870;QR=17406;RO=558;RPL=142;RPP=149.235;RPPR=48.4011;RPR=318;RUN=1;SAF=353;SAP=288.682;SAR=107;SF=0;SRF=391;SRP=198.272;SRR=167;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs781080607;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=2.536e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.616e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2729;dpsi_zscore=-1.615;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.288e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.34e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.252e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-746.617,0,-1008.3:1061:558:460:13870:17406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2592673 . A C 31.00 . AB=0.334855;ABP=158.646;AC=2;AF=0.5;AN=4;AO=220;CIGAR=1X;DP=1070;DPB=657;DPRA=0;EPP=446.622;EPPR=10.153;GTI=0;LEN=1;MEANALT=3;MQM=23.5545;MQMR=24.2792;NS=1;NUMALT=1;ODDS=6.35056;PAIRED=0.927273;PAIREDR=0.898477;PAO=0;PQA=0;PQR=0;PRO=0;QA=3957;QR=10792;RO=394;RPL=156;RPP=86.5528;RPPR=123.731;RPR=64;RUN=1;SAF=152;SAP=72.6553;SAR=68;SF=0;SRF=58;SRP=428.95;SRR=336;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.9074;dpsi_zscore=1.938;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-93.5616,0,-473.185:657:394:220:3957:10792 . . . . . . . 0/1:-67.4211,0,-266.499:413:235:153:2669:6030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2594106 . C T 9553.14 . AB=0.426596;ABP=74.0999;AC=1;AF=0.5;AN=2;AO=648;CIGAR=1X;DP=1519;DPB=1519;DPRA=0;EPP=42.0968;EPPR=28.9331;GTI=0;LEN=1;MEANALT=3;MQM=34.1991;MQMR=34.6955;NS=1;NUMALT=1;ODDS=2199.69;PAIRED=0.87037;PAIREDR=0.903776;PAO=0;PQA=0;PQR=0;PRO=0;QA=18021;QR=24959;RO=821;RPL=293;RPP=15.8917;RPPR=9.88971;RPR=355;RUN=1;SAF=351;SAP=12.7819;SAR=297;SF=0;SRF=454;SRP=23.0296;SRR=367;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon6:c.C811T:p.L271L,KCNQ1:NM_181798:exon6:c.C430T:p.L144L;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000399361;avsnp147=rs189991547;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=9.923e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=141704;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0921;dpsi_zscore=-0.425;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=6.566e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0087;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-974.125,0,-1504.82:1519:821:648:18021:24959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2594172 . C T 5012.62 . AB=0.443743;ABP=29.1525;AC=1;AF=0.5;AN=2;AO=422;CIGAR=1X;DP=951;DPB=951;DPRA=0;EPP=3.33962;EPPR=7.38511;GTI=0;LEN=1;MEANALT=3;MQM=32.0095;MQMR=31.174;NS=1;NUMALT=1;ODDS=1154.2;PAIRED=0.93128;PAIREDR=0.91195;PAO=0;PQA=0;PQR=0;PRO=0;QA=10773;QR=14111;RO=477;RPL=311;RPP=208.837;RPPR=109.576;RPR=111;RUN=1;SAF=138;SAP=112.695;SAR=284;SF=0;SRF=166;SRP=98.7235;SRR=311;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon6:c.C877T:p.R293C,KCNQ1:NM_181798:exon6:c.C496T:p.R166C;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199472737;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.362e-05;ExAC_AFR=9.938e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.526e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=78013;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.773;Polyphen2_HVAR_pred=P;LRT_score=0.672;LRT_pred=N;MutationTaster_score=0.956;MutationTaster_pred=D;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=-5.01;FATHMM_pred=D;PROVEAN_score=-3.79;PROVEAN_pred=D;VEST3_score=0.858;CADD_raw=6.011;CADD_phred=27.9;DANN_score=0.999;fathmm-MKL_coding_score=0.120;fathmm-MKL_coding_pred=N;MetaSVM_score=0.861;MetaSVM_pred=D;MetaLR_score=0.939;MetaLR_pred=D;integrated_fitCons_score=0.583;integrated_confidence_value=0;GERP++_RS=3.9;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.031;phastCons20way_mammalian=0.616;SiPhy_29way_logOdds=10.489;GDI_full_10282015=.;dpsi_max_tissue=-0.2275;dpsi_zscore=-0.738;hgmdCODING=HGMD::Long_QT_syndrome#15466642;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM043014#"Long_QT_syndrome";gnomAD_exome_ALL=3.664e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.594e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.674e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-542.381,0,-744.482:951:477:422:10773:14111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2606414 . C T 8690.92 . AB=0.428944;ABP=70.2835;AC=1;AF=0.5;AN=2;AO=658;CIGAR=1X;DP=1534;DPB=1534;DPRA=0;EPP=32.1701;EPPR=5.64846;GTI=0;LEN=1;MEANALT=3;MQM=32.7067;MQMR=33.9785;NS=1;NUMALT=1;ODDS=2001.16;PAIRED=0.949848;PAIREDR=0.93426;PAO=0;PQA=0;PQR=0;PRO=0;QA=18360;QR=23604;RO=791;RPL=185;RPP=276.735;RPPR=384.951;RPR=473;RUN=1;SAF=501;SAP=393.532;SAR=157;SF=0;SRF=526;SRP=190.018;SRR=265;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs773410709;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.477e-05;ExAC_AFR=0;ExAC_AMR=8.645e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.008e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4839;dpsi_zscore=1.116;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.438e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.688e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-952.133,0,-1377.44:1534:791:658:18360:23604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2608850 . G T 10039.36 . AB=0.490305;ABP=3.89453;AC=3;AF=0.5;AN=6;AO=531;CIGAR=1X;DP=4453;DPB=1083;DPRA=0;EPP=8.60869;EPPR=5.22361;GTI=0;LEN=1;MEANALT=3;MQM=32.0169;MQMR=32.1291;NS=1;NUMALT=1;ODDS=1815.06;PAIRED=0.847458;PAIREDR=0.849711;PAO=0;PQA=0;PQR=0;PRO=0;QA=14776;QR=14898;RO=519;RPL=203;RPP=66.9072;RPPR=13.056;RPR=328;RUN=1;SAF=265;SAP=3.01439;SAR=266;SF=0,1;SRF=312;SRP=49.1384;SRR=207;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon9:c.G1179T:p.K393N,KCNQ1:NM_181798:exon9:c.G798T:p.K266N;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000599042;avsnp147=rs12720457;Kaviar_AF=0.0010349;Kaviar_AC=160;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0003;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0012;ExAC_OTH=0.0022;ExAC_SAS=0.0015;CLNALLELEID=77916;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.228;SIFT_pred=T;Polyphen2_HDIV_score=0.77;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.5;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.991;MutationTaster_pred=D;MutationAssessor_score=1.82;MutationAssessor_pred=L;FATHMM_score=-5.74;FATHMM_pred=D;PROVEAN_score=-2.14;PROVEAN_pred=N;VEST3_score=0.514;CADD_raw=0.832;CADD_phred=9.659;DANN_score=0.961;fathmm-MKL_coding_score=0.786;fathmm-MKL_coding_pred=D;MetaSVM_score=0.849;MetaSVM_pred=D;MetaLR_score=0.939;MetaLR_pred=D;integrated_fitCons_score=0.677;integrated_confidence_value=0;GERP++_RS=0.592;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=-0.234;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.942;SiPhy_29way_logOdds=4.895;GDI_full_10282015=.;dpsi_max_tissue=0.1063;dpsi_zscore=0.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0027;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-803.287,0,-810.309:1083:519:531:14776:14898 . . . . . . 0/1:-891.304,0,-1245.28:1494:774:660:17989:22151 . . . . . . . . . . . . . . . . . . . 0/1:-1839.77,0,-1824.72:1876:906:950:28573:28077:906,950 . . . . . . . . . . . . . . chr11 2683177 . C T 5520.20 . AB=0.433547;ABP=44.8574;AC=2;AF=0.5;AN=4;AO=473;CIGAR=1X;DP=2174;DPB=1091;DPRA=0;EPP=5.43886;EPPR=30.5677;GTI=0;LEN=1;MEANALT=3;MQM=31.6596;MQMR=33.2752;NS=1;NUMALT=1;ODDS=1314.85;PAIRED=0.934461;PAIREDR=0.895683;PAO=0;PQA=0;PQR=0;PRO=0;QA=12347;QR=15551;RO=556;RPL=99;RPP=350.193;RPPR=216.861;RPR=374;RUN=1;SAF=276;SAP=31.6618;SAR=197;SF=0;SRF=299;SRP=9.89965;SRR=257;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0138;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0138;1000g2015aug_all=0.0129792;avsnp147=rs28730758;Kaviar_AF=0.0113259;Kaviar_AC=1751;Kaviar_AN=154602;ExAC_ALL=0.0108;ExAC_AFR=0.0033;ExAC_AMR=0.0057;ExAC_EAS=0.0455;ExAC_FIN=0.0026;ExAC_NFE=0.0112;ExAC_OTH=0.0066;ExAC_SAS=0.0027;CLNALLELEID=51655;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3396;dpsi_zscore=0.946;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0055;gnomAD_exome_ASJ=0.0020;gnomAD_exome_EAS=0.0446;gnomAD_exome_FIN=0.0033;gnomAD_exome_NFE=0.0128;gnomAD_exome_OTH=0.0078;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0106;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0425;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0136;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-620.424,0,-876.494:1091:556:473:12347:15551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-581.198,0,-1013.81:1083:584:442:11371:16835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2790163 . T C 16773.44 . AB=0.472243;ABP=12.0514;AC=37;AF=0.5;AN=66;AO=638;CIGAR=1X;DP=57973;DPB=1351;DPRA=0;EPP=42.7094;EPPR=4.73768;GTI=0;LEN=1;MEANALT=3;MQM=34.9765;MQMR=36.0226;NS=1;NUMALT=1;ODDS=2358.62;PAIRED=0.898119;PAIREDR=0.879699;PAO=0;PQA=0;PQR=0;PRO=0;QA=17985;QR=19086;RO=665;RPL=406;RPP=106.057;RPPR=75.5048;RPR=232;RUN=1;SAF=295;SAP=10.8521;SAR=343;SF=0,1;SRF=328;SRP=3.2748;SRR=337;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.0860;esp6500siv2_ea=0.1172;esp6500siv2_all=0.0860;esp6500siv2_ea=0.1172;1000g2015aug_all=0.0461262;avsnp147=rs11024034;Kaviar_AF=0.0867712;Kaviar_AC=13415;Kaviar_AN=154602;ExAC_ALL=0.0868;ExAC_AFR=0.0207;ExAC_AMR=0.0422;ExAC_EAS=0.0007;ExAC_FIN=0.1065;ExAC_NFE=0.1177;ExAC_OTH=0.1024;ExAC_SAS=0.0714;CLNALLELEID=45099;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6858;dpsi_zscore=-1.258;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0866;gnomAD_exome_AFR=0.0183;gnomAD_exome_AMR=0.0456;gnomAD_exome_ASJ=0.1206;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.1117;gnomAD_exome_NFE=0.1165;gnomAD_exome_OTH=0.0976;gnomAD_exome_SAS=0.0743;gnomAD_genome_ALL=0.0750;gnomAD_genome_AFR=0.0181;gnomAD_genome_AMR=0.0537;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1019;gnomAD_genome_NFE=0.1083;gnomAD_genome_OTH=0.1020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1047.1,0,-1137.55:1351:665:638:17985:19086 . . . 0/1:-1416.58,0,-1481.62:1811:845:892:24949:24895 . . 0/1:-1408.98,0,-1713.87:1970:978:917:25336:28741 . . . 0/1:-1152.73,0,-1341.06:1566:789:709:19905:22385 0/1:-1080.55,0,-1409.93:1582:820:707:19740:23306 . . . . . 0/1:-1346.57,0,-1320.76:1624:760:809:22936:22362 . 1/1:-2807.1,-350.118,0:1307:18:1257:35584:485 0/1:-1374.22,0,-1446.14:1730:841:820:23098:24293 . . 0/1:-1357.1,0,-1601.71:1827:914:844:23901:26162 . . 0/1:-1202.33,0,-1306.48:1569:767:747:20895:22277 0/1:-1118.65,0,-1025.59:1420:643:730:19928:18610 . . 0/1:-1709.51,0,-1656.32:2003:933:997:28282:27497 0/1:-1480.91,0,-1603.08:1923:920:914:25423:26817 . 0/1:-1251.45,0,-1190.96:1491:711:736:21202:20259 . 0/1:-1808.48,0,-2053.88:2384:1176:1114:31572:34601 . . . . . . . . . . . . . 0/1:-1452.12,0,-1455.2:1826:863:886:24803:24543 . . . 0/1:-813.978,0,-996.988:1211:604:541:14868:17487 . . . . . . . . 0/1:-922.988,0,-949.151:1246:604:591:16286:17021 . . . 0/1:-1250.6,0,-1446.38:1651:816:771:21530:23812 . 0/1:-1408.91,0,-1425.6:1782:833:878:24256:24013 . . . 0/1:-719.474,0,-631.292:1021:438:533:13574:12403 . . . . . . . . 0/1:-1525.56,0,-1700.16:2014:980:961:26545:28843 . . . . 0/1:-1271.01,0,-1451.76:1730:856:799:22239:24775 . . 1/1:-4406.44,-511.03,0:2224:72:2086:58067:1891 . . 0/1:-1591.92,0,-1707.09:2082:993:999:27849:29118 0/1:-1442.89,0,-1600.65:1908:947:885:25062:26849 . 0/1:-2368.86,0,-2235.6:2262:1074:1151:35082:33818:1074,1151 0/1:-1920.63,0,-2078.8:1976:986:952:29416:31090:986,952 . . 1/1:-4277.86,-457.728,0:1702:18:1662:50743:558:18,1662 . 0/1:-1856.25,0,-1957.2:1863:924:911:28164:29141:924,911 . . 1/1:-5230.45,-475.385,0:2154:63:2056:62884:1871:63,2056 . . . . . . . 0/1:-1665.93,0,-1591.48:1605:773:801:24781:23925:773,801 . 0/1:-2060.06,0,-2332.74:2158:1093:1024:31438:34499:1093,1024 chr11 2797237 . G A 7297.20 . AB=0.447368;ABP=19.4678;AC=36;AF=0.5;AN=68;AO=306;CIGAR=1X;DP=32016;DPB=684;DPRA=0;EPP=20.7511;EPPR=13.0518;GTI=0;LEN=1;MEANALT=3;MQM=34.6275;MQMR=35;NS=1;NUMALT=1;ODDS=1052.02;PAIRED=0.918301;PAIREDR=0.893064;PAO=0;PQA=0;PQR=0;PRO=0;QA=8671;QR=10052;RO=346;RPL=227;RPP=158.448;RPPR=87.4592;RPR=79;RUN=1;SAF=115;SAP=43.9986;SAR=191;SF=0,1;SRF=144;SRP=24.1225;SRR=202;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon13:c.G1638A:p.S546S,KCNQ1:NM_181798:exon13:c.G1257A:p.S419S;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.1435;esp6500siv2_ea=0.1932;esp6500siv2_all=0.1435;esp6500siv2_ea=0.1932;1000g2015aug_all=0.180911;avsnp147=rs1057128;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.2584;ExAC_AFR=0.0589;ExAC_AMR=0.4707;ExAC_EAS=0.3899;ExAC_FIN=0.3558;ExAC_NFE=0.2836;ExAC_OTH=0.2391;ExAC_SAS=0.2042;CLNALLELEID=51658;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7988;dpsi_zscore=-1.343;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2074;gnomAD_exome_AFR=0.0354;gnomAD_exome_AMR=0.3595;gnomAD_exome_ASJ=0.1615;gnomAD_exome_EAS=0.2826;gnomAD_exome_FIN=0.1777;gnomAD_exome_NFE=0.1866;gnomAD_exome_OTH=0.2086;gnomAD_exome_SAS=0.1829;gnomAD_genome_ALL=0.1654;gnomAD_genome_AFR=0.0459;gnomAD_genome_AMR=0.3329;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.2932;gnomAD_genome_FIN=0.1970;gnomAD_genome_NFE=0.2029;gnomAD_genome_OTH=0.1939;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-486.31,0,-604.965:684:346:306:8671:10052 0/1:-770.238,0,-956.017:1105:544:502:13521:16142 . 0/1:-435.157,0,-484.15:586:284:274:7516:8537 0/1:-856.272,0,-869.002:1090:507:531:14421:15070 . 0/1:-610.985,0,-659.345:792:373:384:10558:11058 0/1:-775.094,0,-1026.09:1170:586:518:13871:17366 . 1/1:-1949.75,-241.39,0:1020:26:923:25154:640 0/1:-581.139,0,-764.402:880:445:395:10568:12799 . . 0/1:-529.712,0,-606.324:717:342:336:9301:10146 . 0/1:-937.771,0,-1311.36:1438:743:621:16947:21799 0/1:-519.921,0,-713.869:809:428:352:9715:12430 . . 0/1:-542.963,0,-660.388:745:376:334:9397:10960 . . . . . . 0/1:-732.767,0,-968.355:1036:527:462:12634:15649 . . . 0/1:-526.819,0,-743.102:830:438:355:9748:12506 0/1:-803.465,0,-1097.82:1150:607:501:14183:17967 . 0/1:-862.139,0,-1047.25:1238:629:546:15139:18044 . 0/1:-897.975,0,-1037.67:1228:597:565:15389:17435 . . 0/1:-681.531,0,-740.732:895:436:416:11563:12860 0/1:-489.21,0,-627.072:734:364:329:8947:10728 0/1:-762.157,0,-985.463:1051:549:465:13354:16221 . 0/1:-844.191,0,-895.525:1065:516:505:14239:15384 . . . . . . . . . . . . . . . 0/1:-533.93,0,-639.713:739:369:328:9241:10762 . . . . . . . 0/1:-281.294,0,-552.518:539:294:210:5479:8717 . . . . . . . . . 0/1:-844.808,0,-871.282:1112:517:541:14656:14990 . . 1/1:-1143.86,-117.005,0:575:25:519:14498:616 . . . . 0/1:-558.833,0,-959.653:1009:553:401:10904:16248 . . . 0/1:-422.527,0,-519.883:610:304:272:7460:8821 . . 0/1:-631.388,0,-850.459:961:492:417:11428:14174 . . 0/1:-781.649,0,-982.823:1129:570:501:13956:16635 . . . 0/1:-1253.99,0,-1207.69:1222:580:610:18689:18048:580,610 . . . . 0/1:-1047.47,0,-1157.7:1090:543:529:15997:17158:543,529 0/1:-946.749,0,-1207.43:1068:570:481:14691:17869:570,481 . . . . . . . . 0/1:-819.001,0,-978.139:896:464:414:12612:14501:464,414 0/1:-763.949,0,-881.48:803:413:381:11656:12984:413,381 . chr11 2797320 . AGGT GGGT 6351.28 . AB=0.514563;ABP=3.57952;AC=148;AF=0.5;AN=202;AO=159;CIGAR=1X;DP=45883;DPB=309;DPRA=0;EPP=10.2349;EPPR=3.40085;GTI=0;LEN=1;MEANALT=3;MQM=30.9434;MQMR=32.1871;NS=1;NUMALT=1;ODDS=461.326;PAIRED=0.949686;PAIREDR=0.906475;PAO=0;PQA=0;PQR=0;PRO=0;QA=4637;QR=4168;RO=139;RPL=106;RPP=41.373;RPPR=22.1474;RPR=53;RUN=1;SAF=41;SAP=83.983;SAR=118;SF=0,1;SRF=38;SRP=65.0144;SRR=101;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.6679;esp6500siv2_ea=0.6891;esp6500siv2_all=0.6679;esp6500siv2_ea=0.6891;1000g2015aug_all=0.668331;avsnp147=rs163150;Kaviar_AF=0.428591;Kaviar_AC=66261;Kaviar_AN=154602;ExAC_ALL=0.6896;ExAC_AFR=0.6143;ExAC_AMR=0.5761;ExAC_EAS=0.7178;ExAC_FIN=0.8023;ExAC_NFE=0.6840;ExAC_OTH=0.7158;ExAC_SAS=0.7248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3671;dpsi_zscore=0.981;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6686;gnomAD_exome_AFR=0.6031;gnomAD_exome_AMR=0.5498;gnomAD_exome_ASJ=0.6796;gnomAD_exome_EAS=0.7088;gnomAD_exome_FIN=0.7475;gnomAD_exome_NFE=0.6784;gnomAD_exome_OTH=0.6627;gnomAD_exome_SAS=0.7272;gnomAD_genome_ALL=0.6683;gnomAD_genome_AFR=0.6130;gnomAD_genome_AMR=0.5800;gnomAD_genome_ASJ=0.6722;gnomAD_genome_EAS=0.7079;gnomAD_genome_FIN=0.7275;gnomAD_genome_NFE=0.6863;gnomAD_genome_OTH=0.6844;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-215.132:309:139:159:4637:4168 0/1:.,.,-446.959:495:260:219:6313:7949 1/1:.,.,0:413:3:406:11517:64 0/1:.,.,-161.502:228:100:121:3454:3018 0/1:.,.,-321.672:433:201:218:6222:6050 1/1:.,.,0:649:2:639:17955:63 0/1:.,.,-277.582:336:165:160:4553:4989 0/1:.,.,-376.229:521:241:260:7466:7213 0/1:.,.,-349.85:442:209:215:6266:6299 . . 0/1:.,.,-329.007:388:193:184:5462:5681 0/1:.,.,-334.262:460:211:234:6928:6165 . 1/1:.,.,0:355:4:349:10448:127 0/1:.,.,-425.902:614:283:309:9025:8440 0/1:.,.,-201.472:323:137:174:4865:4172 1/1:.,.,0:1018:10:994:29048:245 0/1:.,.,-318.532:376:188:174:4968:5496 0/1:.,.,-232.994:293:152:136:3791:4399 1/1:.,.,0:338:4:326:9258:114 1/1:.,.,0:431:1:426:12245:36 1/1:.,.,0:229:3:222:6205:96 . 1/1:.,.,0:490:0:484:13865:0 0/1:.,.,-281.107:360:176:169:4837:5115 . 1/1:.,.,0:383:2:378:10987:50 0/1:.,.,-281.994:367:175:179:5333:5148 0/1:.,.,-310.959:357:179:167:4786:5345 . 0/1:.,.,-352.336:503:226:265:7762:6810 1/1:.,.,0:456:5:441:12462:154 0/1:.,.,-412.413:601:271:311:8864:7844 1/1:.,.,0:385:1:377:10643:36 . 1/1:.,.,0:658:5:648:18329:132 1/1:.,.,0:313:4:304:9206:140 0/1:.,.,-282.569:402:190:202:5776:5423 0/1:.,.,-307.547:350:186:156:4478:5557 0/1:.,.,-333.559:443:211:223:6470:6242 1/1:.,.,0:481:4:468:13726:91 0/1:.,.,-378.343:431:231:189:5475:6735 0/1:.,.,-352.868:403:202:181:5206:5943 0/1:.,.,-379.076:528:236:276:7670:7059 0/1:.,.,-360.127:449:215:222:6600:6539 0/1:.,.,-372.536:476:239:222:6173:7003 1/1:.,.,0:265:1:260:7500:14 0/1:.,.,-291.027:355:179:166:4787:5142 1/1:.,.,0:495:2:489:14603:50 1/1:.,.,0:538:2:531:15731:72 0/1:.,.,-257.035:409:180:210:5896:5113 0/1:.,.,-306.648:488:203:269:7824:5876 1/1:.,.,0:576:0:567:16120:0 1/1:.,.,0:342:3:336:9685:108 1/1:.,.,0:354:0:345:9936:0 1/1:.,.,0:502:1:496:14206:27 0/1:.,.,-258.345:299:156:135:3950:4535 0/1:.,.,-239.404:347:153:186:5390:4556 0/1:.,.,-390.79:605:266:315:9169:7821 1/1:.,.,0:266:2:259:7389:57 0/1:.,.,-402.435:530:247:267:7699:7335 1/1:.,.,0:419:7:407:11627:181 1/1:.,.,0:281:4:268:7727:122 1/1:.,.,0:527:6:516:15047:177 1/1:.,.,0:508:1:500:14474:36 0/1:.,.,-168.659:223:104:111:3238:2982 0/1:.,.,-297.366:388:181:192:5621:5343 0/1:.,.,-328.119:454:204:231:6407:5962 0/1:.,.,-329.124:410:205:191:5455:5927 1/1:.,.,0:437:4:427:12409:114 0/1:.,.,-610.434:650:344:280:8123:10250 1/1:.,.,0:504:13:483:14406:375 1/1:.,.,0:290:0:284:7208:0 0/1:.,.,-264.802:327:163:153:4276:4873 1/1:.,.,0:529:0:522:15206:0 . 0/1:.,.,-440.97:521:274:237:6968:7819 1/1:.,.,0:253:7:243:6980:156 . 1/1:.,.,0:462:3:454:13448:100 1/1:.,.,0:526:0:518:14492:0 1/1:.,.,0:547:7:529:14968:164 0/1:.,.,-301.703:442:193:242:6780:5731 0/1:.,.,-297.255:411:192:210:5941:5694 0/1:.,.,-324.245:403:201:190:5600:5799 1/1:.,.,0:290:2:284:8169:46 1/1:.,.,0:424:3:416:11842:108 0/1:.,.,-221.074:288:133:146:4353:4043 0/1:.,.,-312.469:335:179:150:4532:5352 1/1:.,.,0:515:4:505:14629:131 . 1/1:.,.,0:567:9:553:16034:253 1/1:.,.,0:492:7:477:13703:191 0/1:.,.,-336.952:526:221:288:8368:6569 . 1/1:.,.,0:651:2:644:19274:50:2,644 0/1:.,.,-664.584:583:309:269:8132:9739:309,269 0/1:.,.,-718.492:631:334:289:8746:10622:334,289 . 1/1:.,.,0:521:4:512:14963:144:4,512 1/1:-1410.87,-185.984,0:594:4:535:16317:112:4,535 1/1:-1188.35,-149.384,0:513:5:458:13760:159:5,458 0/1:.,.,-597.337:538:289:243:7436:8916:289,243 . 1/1:.,.,0:626:4:620:19156:122:4,620 0/1:.,.,-725.98:640:341:290:8819:10705:341,290 1/1:-1126.56,-130.154,0:471:4:421:12970:116:4,421 0/1:.,.,-642.966:553:295:252:7578:9420:295,252 . 0/1:.,.,-626.271:561:294:259:8024:9260:294,259 0/1:.,.,-585.227:551:279:264:7923:8823:279,264 1/1:.,.,0:582:2:575:17483:63:2,575 . 0/1:.,.,-452.212:441:207:230:6761:6798:207,230 1/1:.,.,0:620:5:609:18479:163:5,609 chr11 2798305 . T C 14582.72 . AB=0.468826;ABP=16.8196;AC=46;AF=0.5;AN=82;AO=767;CIGAR=1X;DP=66441;DPB=1636;DPRA=0;EPP=39.1609;EPPR=23.1864;GTI=0;LEN=1;MEANALT=3;MQM=34.1108;MQMR=35.2902;NS=1;NUMALT=1;ODDS=2594.47;PAIRED=0.872229;PAIREDR=0.869347;PAO=0;PQA=0;PQR=0;PRO=0;QA=20679;QR=23011;RO=796;RPL=531;RPP=249.389;RPPR=139.889;RPR=236;RUN=1;SAF=346;SAP=18.9354;SAR=421;SF=0,1;SRF=367;SRP=13.4967;SRR=429;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.2040;esp6500siv2_ea=0.2302;esp6500siv2_all=0.2040;esp6500siv2_ea=0.2302;1000g2015aug_all=0.223842;avsnp147=rs81204;Kaviar_AF=0.221019;Kaviar_AC=34170;Kaviar_AN=154602;ExAC_ALL=0.2283;ExAC_AFR=0.1476;ExAC_AMR=0.1862;ExAC_EAS=0.2670;ExAC_FIN=0.2577;ExAC_NFE=0.2406;ExAC_OTH=0.2321;ExAC_SAS=0.2266;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6857;dpsi_zscore=-1.258;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2258;gnomAD_exome_AFR=0.1409;gnomAD_exome_AMR=0.1891;gnomAD_exome_ASJ=0.2321;gnomAD_exome_EAS=0.2670;gnomAD_exome_FIN=0.2535;gnomAD_exome_NFE=0.2356;gnomAD_exome_OTH=0.2419;gnomAD_exome_SAS=0.2245;gnomAD_genome_ALL=0.2176;gnomAD_genome_AFR=0.1436;gnomAD_genome_AMR=0.2105;gnomAD_genome_ASJ=0.2053;gnomAD_genome_EAS=0.2680;gnomAD_genome_FIN=0.2510;gnomAD_genome_NFE=0.2468;gnomAD_genome_OTH=0.2373;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1165.66,0,-1344.32:1636:796:767:20679:23011 . 0/1:-1239.85,0,-1151.62:1600:717:813:22047:20871 . . . . 0/1:-1175.77,0,-1434.63:1736:864:807:21867:25083 . . . . 0/1:-1020.45,0,-921.309:1253:561:649:17674:16117 . 0/1:-746.735,0,-835.389:1121:535:529:14289:15029 1/1:-7145.16,-927.319,0:3547:60:3399:93395:1484 . 1/1:-2137.52,-307.797,0:1109:12:1064:28525:258 . 0/1:-1209.09,0,-1351.89:1737:827:846:22674:23782 0/1:-665.802,0,-698.002:968:452:477:12714:13082 . . . . 0/1:-972.548,0,-1270.96:1490:745:690:18482:21479 . . . 0/1:-1319.31,0,-1647.47:1908:969:867:23987:28390 0/1:-1366.74,0,-1538.86:1855:911:878:24264:26349 . 0/1:-1251.27,0,-1233.04:1586:746:774:21491:21228 0/1:-1426.21,0,-1277.16:1852:826:947:25207:23781 0/1:-1333.82,0,-1746.83:2067:1083:907:24711:30830 . . 0/1:-828.104,0,-931.911:1168:560:563:15096:15881 1/1:-3652.91,-476.371,0:1816:32:1736:47696:810 . . . . . . 0/1:-664.785,0,-666.085:890:391:464:12161:11386 . . . . 0/1:-1582.86,0,-1386.77:1938:864:987:27624:24702 . 0/1:-676.1,0,-833.967:1090:532:505:13300:14853 0/1:-916.029,0,-913.348:1196:584:577:16011:16580 0/1:-1121.03,0,-1301.06:1652:813:762:20469:23050 . . . 0/1:-608.795,0,-718.025:964:467:453:12140:13299 0/1:-1602.42,0,-1864.91:2304:1115:1087:29121:32101 0/1:-1143.19,0,-1206.34:1528:710:762:20563:21008 0/1:-610.492,0,-759.462:954:473:440:11806:13392 0/1:-1467.24,0,-1544.65:1980:945:965:26554:27478 . . . . 0/1:-1292.93,0,-1186.68:1709:758:888:23112:21804 . . . . . . . . . . . 0/1:-1210.95,0,-1547.31:1837:941:828:22643:26830 0/1:-1339.42,0,-1537.85:1908:946:892:24584:27099 . 0/1:-1009.18,0,-1181.12:1532:751:717:19196:21201 0/1:-1034.87,0,-1172.2:1417:689:669:18447:19581 1/1:-1980.42,-239.707,0:1024:29:965:25976:822 . 1/1:-1964.33,-267.461,0:966:10:925:25172:198 0/1:-1023.31,0,-1319.37:1569:786:703:19046:22902 . . . 0/1:-1231.18,0,-1696.39:1887:990:831:22919:28568 0/1:-1334.09,0,-1437.84:1827:892:871:24262:25013 . . . . . . 0/1:-2087.29,0,-2340.92:2197:1128:1032:31947:35134:1128,1032 . . . . . . . . . 0/1:-1867.03,0,-1860.82:1897:914:940:28429:28544:914,940 . 0/1:-1416.12,0,-1742.79:1588:838:732:22517:26053:838,732 . 0/1:-2044.09,0,-2222.03:2138:1081:1025:31416:33818:1081,1025 chr11 2799299 . G T 8461.78 . AB=0.479955;ABP=6.14418;AC=5;AF=0.5;AN=10;AO=431;CIGAR=1X;DP=7096;DPB=898;DPRA=0;EPP=6.68316;EPPR=12.1893;GTI=0;LEN=1;MEANALT=3;MQM=31.1137;MQMR=32.2511;NS=1;NUMALT=1;ODDS=1367;PAIRED=0.856148;PAIREDR=0.89083;PAO=0;PQA=0;PQR=0;PRO=0;QA=11940;QR=13368;RO=458;RPL=240;RPP=15.1071;RPPR=3.69303;RPR=191;RUN=1;SAF=193;SAP=13.2127;SAR=238;SF=0;SRF=224;SRP=3.48442;SRR=234;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.0365;esp6500siv2_ea=0.0511;esp6500siv2_all=0.0365;esp6500siv2_ea=0.0511;1000g2015aug_all=0.0133786;avsnp147=rs41282928;Kaviar_AF=0.0346373;Kaviar_AC=5355;Kaviar_AN=154602;ExAC_ALL=0.0342;ExAC_AFR=0.0061;ExAC_AMR=0.0156;ExAC_EAS=0;ExAC_FIN=0.0728;ExAC_NFE=0.0484;ExAC_OTH=0.0405;ExAC_SAS=0.01;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1167;dpsi_zscore=0.533;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0346;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0173;gnomAD_exome_ASJ=0.0097;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0706;gnomAD_exome_NFE=0.0514;gnomAD_exome_OTH=0.0314;gnomAD_exome_SAS=0.0096;gnomAD_genome_ALL=0.0424;gnomAD_genome_AFR=0.0076;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0719;gnomAD_genome_NFE=0.0608;gnomAD_genome_OTH=0.0551;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-604.275,0,-725.677:898:458:431:11940:13368 . . . . . . 0/1:-848.459,0,-1138.91:1375:717:634:17375:20933 . . 0/1:-705.126,0,-1078.49:1279:680:566:14984:20114 . 0/1:-1259.06,0,-1991.81:2148:1170:947:25782:35074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-880.98,0,-1144.52:1396:710:659:17657:21011 . . . . . . . . . . . . . . . . . . . . . . . . chr11 2869063 . G A 6452.78 . AB=0.398752;ABP=131.407;AC=1;AF=0.5;AN=2;AO=575;CIGAR=1X;DP=1442;DPB=1442;DPRA=0;EPP=6.18631;EPPR=40.045;GTI=0;LEN=1;MEANALT=3;MQM=28.7235;MQMR=30.4606;NS=1;NUMALT=1;ODDS=1485.81;PAIRED=0.886957;PAIREDR=0.893701;PAO=0;PQA=0;PQR=0;PRO=0;QA=15492;QR=22372;RO=762;RPL=256;RPP=17.9991;RPPR=10.7159;RPR=319;RUN=1;SAF=348;SAP=58.3017;SAR=227;SF=0;SRF=399;SRP=6.70351;SRR=363;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.G1861A:p.G621S,KCNQ1:NM_181798:exon16:c.G1480A:p.G494S;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199472820;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=3.845e-05;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=77957;CLNDN=Long_QT_syndrome|not_specified|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.515;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=-6.17;FATHMM_pred=D;PROVEAN_score=0.51;PROVEAN_pred=N;VEST3_score=0.596;CADD_raw=-0.549;CADD_phred=0.166;DANN_score=0.825;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_pred=N;MetaSVM_score=1.212;MetaSVM_pred=D;MetaLR_score=0.847;MetaLR_pred=D;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=-3.38;phyloP7way_vertebrate=-0.043;phyloP20way_mammalian=-0.391;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=2.775;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1413447#"Sudden_cardiac_death";gnomAD_exome_ALL=5.275e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.455e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-666.444,0,-1197.56:1442:762:575:15492:22372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 2869188 . C T 6817.10 . AB=0.448304;ABP=31.7481;AC=44;AF=0.5;AN=80;AO=555;CIGAR=1X;DP=45165;DPB=1238;DPRA=0;EPP=64.1441;EPPR=50.5708;GTI=0;LEN=1;MEANALT=3;MQM=26.7766;MQMR=25.6112;NS=1;NUMALT=1;ODDS=1330.44;PAIRED=0.855856;PAIREDR=0.8624;PAO=0;PQA=0;PQR=0;PRO=0;QA=14310;QR=18875;RO=625;RPL=371;RPP=139.829;RPPR=137.847;RPR=184;RUN=1;SAF=197;SAP=104.428;SAR=358;SF=0,1;SRF=226;SRP=106.994;SRR=399;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.C1986T:p.Y662Y,KCNQ1:NM_181798:exon16:c.C1605T:p.Y535Y;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.1734;esp6500siv2_ea=0.2328;esp6500siv2_all=0.1734;esp6500siv2_ea=0.2328;1000g2015aug_all=0.0832668;avsnp147=rs11601907;Kaviar_AF=0.142611;Kaviar_AC=22048;Kaviar_AN=154602;ExAC_ALL=0.2607;ExAC_AFR=0.0759;ExAC_AMR=0.2044;ExAC_EAS=0.0012;ExAC_FIN=0.4646;ExAC_NFE=0.3658;ExAC_OTH=0.2180;ExAC_SAS=0.1257;CLNALLELEID=51659;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1725;gnomAD_exome_AFR=0.0410;gnomAD_exome_AMR=0.0930;gnomAD_exome_ASJ=0.1796;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.2710;gnomAD_exome_NFE=0.2550;gnomAD_exome_OTH=0.1786;gnomAD_exome_SAS=0.0933;gnomAD_genome_ALL=0.1875;gnomAD_genome_AFR=0.0512;gnomAD_genome_AMR=0.1313;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2698;gnomAD_genome_NFE=0.2676;gnomAD_genome_OTH=0.2366;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-617.101,0,-838.405:1238:625:555:14310:18875 0/1:-473.373,0,-797.204:989:520:418:11031:16049 . 0/1:-457.281,0,-841.732:1069:594:436:11253:18122 . . . . 0/1:-482.291,0,-864.917:1119:610:452:11621:18972 . . 0/1:-554.403,0,-750.801:1021:530:448:12030:15669 . . . 0/1:-435.834,0,-618.063:860:442:376:9840:13658 . . . . . 0/1:-231.091,0,-503.617:653:380:256:6288:11312 . 0/1:-776.488,0,-1050.53:1456:758:627:16382:22913 0/1:-393.516,0,-641.947:940:514:370:9737:15457 0/1:-607.347,0,-791.724:1247:619:541:13945:18251 . . . . . 0/1:-546.223,0,-887.511:1152:620:482:12733:18866 . 1/1:-1585.1,-242.025,0:988:27:889:23468:510 . 0/1:-845.017,0,-1385.64:1807:959:762:19372:29032 0/1:-461.274,0,-673.776:851:438:377:9882:13549 . . 0/1:-732.657,0,-963.87:1288:657:585:15463:20307 . 0/1:-626.974,0,-857.581:1175:583:532:13788:17933 0/1:-477.597,0,-787.461:1005:536:425:10877:16214 . . . 0/1:-304.101,0,-521.161:701:361:304:7480:11181 . . . . . . . 0/1:-451.5,0,-679.475:851:439:374:9604:13628 . . 0/1:-354.132,0,-688.422:872:481:342:8778:14540 0/1:-667.104,0,-929.366:1361:707:593:14908:20941 0/1:-410.289,0,-488.846:821:399:371:9648:11875 0/1:-686.366,0,-1093.23:1471:763:646:16962:23294 . . . 0/1:-595.961,0,-908.09:1200:615:523:13422:18749 . . . . . . 1/1:-1809.37,-261.242,0:1240:61:1060:27553:1363 1/1:-955.411,-162.407,0:674:19:591:15451:393 . . 0/1:-640.908,0,-971.223:1367:709:600:15401:21554 . 0/1:-398.429,0,-597.953:796:428:332:8887:12884 0/1:-321.865,0,-531.02:680:358:291:7547:11066 . . 0/1:-598.594,0,-978.479:1395:731:603:15166:21885 . . . . 0/1:-602.935,0,-833.166:1180:596:523:13363:17909 0/1:-358.839,0,-551.808:691:357:305:7814:10853 . 1/1:-2009.38,-274.636,0:1360:74:1198:30871:1777 . 0/1:-641.831,0,-991.136:1284:652:559:14364:20692 0/1:-661.607,0,-994.305:1389:743:587:15393:22485 0/1:-613.49,0,-915.736:1260:641:559:14207:18939 . . 0/1:-1305.7,0,-1473.49:1542:749:743:20877:23434:749,743 . . 0/1:-1189.69,0,-1384.69:1491:723:721:19687:22320:723,721 . . . . . . 0/1:-972.366,0,-1374.53:1312:690:588:16492:21284:690,588 . . . . . 0/1:-975.323,0,-1451.87:1369:721:610:16844:22489:721,610 . . chr11 6629665 . C T 15199.28 . AB=0.477305;ABP=9.31835;AC=52;AF=0.5;AN=90;AO=673;CIGAR=1X;DP=59151;DPB=1410;DPRA=0;EPP=72.733;EPPR=69.1347;GTI=0;LEN=1;MEANALT=3;MQM=37.11;MQMR=37.3086;NS=1;NUMALT=1;ODDS=2845.94;PAIRED=0.94948;PAIREDR=0.941429;PAO=0;PQA=0;PQR=0;PRO=0;QA=20217;QR=21203;RO=700;RPL=372;RPP=19.2754;RPPR=10.1575;RPR=301;RUN=1;SAF=336;SAP=3.01353;SAR=337;SF=0,1;SRF=329;SRP=8.48241;SRR=371;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001014795:exon3:c.C297T:p.H99H,ILK:NM_001014794:exon4:c.C297T:p.H99H,ILK:NM_001278441:exon4:c.C297T:p.H99H,ILK:NM_004517:exon4:c.C297T:p.H99H;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.2950;esp6500siv2_ea=0.25;esp6500siv2_all=0.2950;esp6500siv2_ea=0.25;1000g2015aug_all=0.314696;avsnp147=rs1043388;Kaviar_AF=0.265527;Kaviar_AC=41051;Kaviar_AN=154602;ExAC_ALL=0.2677;ExAC_AFR=0.3834;ExAC_AMR=0.2057;ExAC_EAS=0.3436;ExAC_FIN=0.2525;ExAC_NFE=0.2634;ExAC_OTH=0.2313;ExAC_SAS=0.2243;CLNALLELEID=141291;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5055;dpsi_zscore=1.137;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2613;gnomAD_exome_AFR=0.3817;gnomAD_exome_AMR=0.2051;gnomAD_exome_ASJ=0.2843;gnomAD_exome_EAS=0.3443;gnomAD_exome_FIN=0.2439;gnomAD_exome_NFE=0.2605;gnomAD_exome_OTH=0.2477;gnomAD_exome_SAS=0.2272;gnomAD_genome_ALL=0.2953;gnomAD_genome_AFR=0.3774;gnomAD_genome_AMR=0.2053;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.3455;gnomAD_genome_FIN=0.2407;gnomAD_genome_NFE=0.2609;gnomAD_genome_OTH=0.2755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-1252.94,0,-1326.62:1410:700:673:20217:21203 . . 0/1:-1279.71,0,-1498.69:1490:754:710:20822:23331 0/1:-1166.31,0,-1196.68:1272:615:632:18710:19167 . . . . . 0/1:-1078.25,0,-757.489:1004:414:566:16640:12754 . 0/1:-768.605,0,-934.688:957:488:449:13020:14741 . 0/1:-1001.5,0,-1303.96:1204:645:536:16216:19828 . . . . . . . 0/1:-1249.12,0,-1376.47:1421:701:684:20125:21700 0/1:-1199.11,0,-1393.49:1352:682:650:19133:21372 . 0/1:-1095.79,0,-863.886:1032:466:546:16672:14118 . . 1/1:-3466.35,-370.633,0:1490:28:1426:42814:835 . . . 1/1:-4088.08,-467.693,0:1704:18:1653:49856:472 . 0/1:-1064.16,0,-1288.54:1302:675:605:17702:20367 0/1:-774.399,0,-915.177:916:480:425:12753:14467 1/1:-3666.8,-409.411,0:1557:19:1498:44684:541 0/1:-1169.7,0,-1204.16:1243:604:614:18443:18909 1/1:-3190.44,-368.548,0:1360:14:1317:38916:408 . . 0/1:-1195,0,-1407.01:1401:723:649:19361:22166 0/1:-1325.84,0,-1298.09:1394:660:706:20801:20753 . . . 0/1:-1394.47,0,-1687.47:1644:854:760:22864:26287 0/1:-904.466,0,-1180.19:1208:638:541:15512:19081 . 0/1:-1468.08,0,-1487.77:1602:764:805:23533:23638 . . 1/1:-3612.07,-408.772,0:1513:16:1464:44134:469 . . . 0/1:-721.993,0,-731.067:818:394:407:11845:12016 . . . . . 0/1:-564.632,0,-702.379:725:371:339:9696:11409 . 0/1:-966.163,0,-1132.51:1130:571:539:15884:17926 . . . . 0/1:-696.872,0,-774.657:888:447:419:12085:13296 . 1/1:-3791.09,-438.477,0:1637:19:1583:46934:531 0/1:-1280.38,0,-1287.29:1371:665:681:20347:20276 . . 0/1:-622.492,0,-1003.44:859:490:354:10565:15074 0/1:-1313.74,0,-1437.4:1500:733:735:21665:22789 0/1:-1308.74,0,-1337.59:1433:691:711:21098:21457 0/1:-1471.2,0,-1508.87:1619:788:788:23590:24222 . 0/1:-1030.37,0,-998.572:1118:534:561:16515:16250 0/1:-1020.57,0,-1280.87:1216:638:549:16642:19677 . . . . 0/1:-1739.08,0,-1629:1774:820:910:27087:25799 0/1:-1050.62,0,-1215.04:1247:605:611:17304:18829 . 0/1:-1293.2,0,-1546.19:1509:778:700:21075:24233 . . 0/1:-2003.15,0,-1788.23:1832:864:949:29746:27241:864,949 . . 0/1:-1009.59,0,-1035.04:1003:493:497:15331:15448:493,497 . 0/1:-1647.7,0,-1490.59:1527:728:784:24593:22896:728,784 0/1:-1462.53,0,-1474.02:1414:688:705:21819:21938:688,705 . . . . 0/1:-1276.39,0,-1173.16:1182:557:610:18949:17685:557,610 . . 0/1:-1386.45,0,-1534.74:1427:721:684:21078:22877:721,684 0/1:-1260.93,0,-1261.73:1259:603:636:19355:19008:603,636 . . 1/1:-3011.78,-287.056,0:1187:23:1155:35920:768:23,1155 . chr11 6629915 . T G 12342.50 . AB=0.47006;ABP=13.4126;AC=1;AF=0.5;AN=2;AO=628;CIGAR=1X;DP=1336;DPB=1336;DPRA=0;EPP=40.4094;EPPR=21.7231;GTI=0;LEN=1;MEANALT=3;MQM=38.9777;MQMR=39.0227;NS=1;NUMALT=1;ODDS=2841.96;PAIRED=0.968153;PAIREDR=0.966006;PAO=0;PQA=0;PQR=0;PRO=0;QA=19384;QR=22326;RO=706;RPL=279;RPP=19.9533;RPPR=3.20715;RPR=349;RUN=1;SAF=341;SAP=13.0931;SAR=287;SF=1;SRF=373;SRP=7.93148;SRR=333;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs372657109;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.295e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.496e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.4265;dpsi_zscore=2.781;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.03e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.581e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1249.84,0,-1472.53:1336:706:628:19384:22326:706,628 . . chr11 6630028 . TCCCCCAT TCCCCAT 25498.57 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=984;CIGAR=1M1D5M;DP=151607;DPB=996.857;DPRA=0;EPP=159.153;EPPR=0;GTI=0;LEN=1;MEANALT=43;MQM=33.9939;MQMR=0;NS=1;NUMALT=1;ODDS=1497.42;PAIRED=0.946138;PAIREDR=0;PAO=48.5;PQA=1243;PQR=1205;PRO=46.5;QA=24498;QR=0;RO=0;RPL=516;RPP=8.09472;RPPR=0;RPR=468;RUN=1;SAF=429;SAP=38.0452;SAR=555;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs11314683;Kaviar_AF=0.0293981;Kaviar_AC=4545;Kaviar_AN=154602;ExAC_ALL=1.0000;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=198367;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.0000;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:1102:0:984:24498:0 1/1:.,.,0:1537:0:1365:33539:0 1/1:.,.,0:1340:0:1197:30594:0 1/1:.,.,0:827:2:733:18431:54 1/1:.,.,0:1327:0:1199:29015:0 1/1:.,.,0:1772:2:1569:39588:44 1/1:.,.,0:1117:0:994:24535:0 1/1:.,.,0:1431:1:1268:31797:16 1/1:.,.,0:1286:0:1156:29138:0 1/1:.,.,0:1280:0:1159:28794:0 1/1:.,.,0:1205:2:1070:26299:36 1/1:.,.,0:1344:0:1201:29876:0 1/1:.,.,0:1225:0:1113:27424:0 1/1:.,.,0:914:0:813:18752:0 1/1:.,.,0:982:0:878:21690:0 1/1:.,.,0:1838:0:1648:41721:0 1/1:.,.,0:965:0:852:20023:0 1/1:.,.,0:2768:0:2439:62460:0 1/1:.,.,0:1226:1:1096:27737:16 1/1:.,.,0:921:0:831:20148:0 1/1:.,.,0:1011:0:908:22891:0 1/1:.,.,0:1435:2:1294:32665:50 1/1:.,.,0:717:0:634:14996:0 1/1:.,.,0:1661:0:1506:37985:0 1/1:.,.,0:1481:0:1324:32890:0 1/1:.,.,0:949:0:839:19523:0 1/1:.,.,0:1355:0:1211:29945:0 1/1:.,.,0:1343:1:1230:30723:19 1/1:.,.,0:886:1:794:18765:22 1/1:.,.,0:962:0:853:21162:0 1/1:.,.,0:1107:0:997:25275:0 1/1:.,.,0:1550:0:1395:35654:0 1/1:.,.,0:1387:0:1214:30065:0 1/1:.,.,0:1397:0:1250:30405:0 1/1:.,.,0:1374:0:1229:31574:0 1/1:.,.,0:1468:0:1301:33002:0 1/1:.,.,0:1586:1:1428:36411:21 1/1:.,.,0:1188:0:1055:26891:0 1/1:.,.,0:1272:2:1112:27774:43 1/1:.,.,0:896:0:805:20436:0 1/1:.,.,0:1553:0:1397:35751:0 1/1:.,.,0:1270:0:1138:28821:0 1/1:.,.,0:1265:1:1135:29778:18 1/1:.,.,0:1310:0:1177:30083:0 1/1:.,.,0:1548:3:1371:34529:76 1/1:.,.,0:1361:1:1232:30737:17 1/1:.,.,0:1362:0:1215:30260:0 1/1:.,.,0:755:0:673:16533:0 1/1:.,.,0:989:0:905:22609:0 1/1:.,.,0:1597:1:1438:36817:20 1/1:.,.,0:1467:0:1325:33209:0 1/1:.,.,0:1153:1:1014:23764:21 1/1:.,.,0:1627:0:1466:37384:0 1/1:.,.,0:1589:0:1428:35826:0 1/1:.,.,0:917:1:792:18766:22 1/1:.,.,0:1073:0:972:24688:0 1/1:.,.,0:1519:0:1367:34045:0 1/1:.,.,0:754:0:656:15204:0 1/1:.,.,0:958:1:873:21562:22 1/1:.,.,0:1529:0:1335:33483:0 1/1:.,.,0:737:0:644:15298:0 1/1:.,.,0:1716:0:1536:37140:0 1/1:.,.,0:1281:0:1159:29369:0 1/1:.,.,0:786:0:680:15778:0 1/1:.,.,0:1631:0:1473:37733:0 1/1:.,.,0:1445:0:1302:32687:0 1/1:.,.,0:652:0:573:13992:0 1/1:.,.,0:1287:0:1151:28628:0 1/1:.,.,0:1135:0:1027:25447:0 1/1:.,.,0:1300:0:1164:29320:0 1/1:.,.,0:1325:0:1187:29786:0 1/1:.,.,0:1685:0:1513:39087:0 1/1:.,.,0:1596:0:1405:35408:0 1/1:.,.,0:779:0:653:14191:0 1/1:.,.,0:1080:0:963:24237:0 1/1:.,.,0:1642:1:1467:36118:22 1/1:.,.,0:1467:0:1335:33171:0 1/1:.,.,0:1506:2:1327:33439:40 1/1:.,.,0:931:1:831:20771:36 1/1:.,.,0:759:0:701:17142:0 1/1:.,.,0:1547:0:1399:34565:0 1/1:.,.,0:1547:0:1377:33629:0 1/1:.,.,0:1579:0:1396:34160:0 1/1:.,.,0:1231:0:1074:26579:0 1/1:.,.,0:1223:1:1082:26577:18 1/1:.,.,0:1269:1:1122:28085:16 1/1:.,.,0:958:0:859:21635:0 1/1:.,.,0:1418:0:1265:31335:0 1/1:.,.,0:694:0:624:15681:0 1/1:.,.,0:1241:0:1099:27264:0 1/1:.,.,0:1822:1:1621:40390:26 1/1:.,.,0:1280:1:1120:28253:19 1/1:.,.,0:1685:1:1509:37979:18 1/1:.,.,0:1570:1:1385:35150:17 1/1:.,.,0:1478:1:1313:33339:23 . 1/1:-3246.37,-411.508,0:1548:0:1355:36983:0:0,1355 1/1:-3253.16,-416.023,0:1535:0:1364:37029:0:0,1364 1/1:-3773.45,-480.745,0:1791:0:1583:42982:0:0,1583 1/1:-2000.9,-254.671,0:945:0:834:22767:0:0,834 1/1:-2796.84,-360.935,0:1320:0:1177:31820:0:0,1177 1/1:-3557.6,-453.652,0:1709:0:1495:40534:0:0,1495 1/1:-3102.04,-396.155,0:1472:0:1290:35330:0:0,1290 1/1:-3579.18,-456.06,0:1684:0:1505:40777:0:0,1505 1/1:-2986.49,-379.599,0:1418:0:1253:34003:0:0,1253 1/1:-3130.77,-408.197,0:1506:0:1336:35681:0:0,1336 1/1:-3563.41,-445.223,0:1661:0:1471:40531:0:0,1471 1/1:-2432.99,-306.75,0:1150:0:1005:27681:0:0,1005 1/1:-2948.51,-376.589,0:1402:0:1239:33590:0:0,1239 1/1:-3135.38,-401.273,0:1480:0:1321:35643:0:0,1321 1/1:-3146.54,-416.023,0:1550:0:1354:35906:0:0,1354 1/1:-3022.58,-391.038,0:1470:0:1283:34461:0:0,1283 1/1:-3283.73,-420.84,0:1578:0:1380:37469:0:0,1380 1/1:-2652.22,-344.378,0:1282:0:1138:30244:0:0,1138 1/1:-2816.43,-359.129,0:1303:0:1179:32091:0:0,1179 1/1:-3150.81,-405.186,0:1493:0:1316:35886:0:0,1316 chr11 6630410 . T C 10075.14 . AB=0.385173;ABP=145.136;AC=46;AF=0.5;AN=80;AO=478;CIGAR=1X;DP=47350;DPB=1241;DPRA=0;EPP=36.6091;EPPR=90.591;GTI=0;LEN=1;MEANALT=3;MQM=35.0188;MQMR=38.0124;NS=1;NUMALT=1;ODDS=1613.68;PAIRED=0.945607;PAIREDR=0.953103;PAO=0;PQA=0;PQR=0;PRO=0;QA=13486;QR=20663;RO=725;RPL=248;RPP=4.48218;RPPR=39.9134;RPR=230;RUN=1;SAF=262;SAP=12.6229;SAR=216;SF=0,1;SRF=402;SRP=21.7029;SRR=323;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.1882;esp6500siv2_ea=0.2548;esp6500siv2_all=0.1882;esp6500siv2_ea=0.2548;1000g2015aug_all=0.120807;avsnp147=rs11826498;Kaviar_AF=0.205761;Kaviar_AC=31811;Kaviar_AN=154602;ExAC_ALL=0.2074;ExAC_AFR=0.0560;ExAC_AMR=0.2071;ExAC_EAS=0.1062;ExAC_FIN=0.2881;ExAC_NFE=0.2542;ExAC_OTH=0.2119;ExAC_SAS=0.1341;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1541;dpsi_zscore=0.626;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2113;gnomAD_exome_AFR=0.0511;gnomAD_exome_AMR=0.2026;gnomAD_exome_ASJ=0.2471;gnomAD_exome_EAS=0.1029;gnomAD_exome_FIN=0.2949;gnomAD_exome_NFE=0.2530;gnomAD_exome_OTH=0.2188;gnomAD_exome_SAS=0.1365;gnomAD_genome_ALL=0.1950;gnomAD_genome_AFR=0.0588;gnomAD_genome_AMR=0.1874;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.0968;gnomAD_genome_FIN=0.2961;gnomAD_genome_NFE=0.2603;gnomAD_genome_OTH=0.2184;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-724.327,0,-1359.4:1241:725:478:13486:20663 0/1:-542.899,0,-753.75:798:413:353:9605:11824 0/1:-747.484,0,-1258.94:1329:727:529:13987:20413 0/1:-1067.24,0,-1420.45:1555:804:683:18869:22911 . 0/1:-932.812,0,-1234.86:1378:702:607:16517:19715 . . . . . . . 0/1:-1224.31,0,-1691.98:1832:964:794:21405:27050 . . 0/1:-847.867,0,-1078.51:1190:626:519:14531:17398 1/1:-1527.54,-217.539,0:780:3:751:19980:108 . . 0/1:-303.904,0,-558.89:607:340:229:5858:9431 0/1:-1283.89,0,-1552.19:1722:870:803:22014:24757 . 1/1:-1386.76,-199.569,0:734:10:694:18100:198 . . 0/1:-448.601,0,-749.98:835:456:327:8624:12558 . . 1/1:-3172.54,-393.657,0:1524:23:1454:39346:613 . 0/1:-918.563,0,-1290.46:1340:705:583:16003:20574 0/1:-901.107,0,-1393.15:1402:765:578:16061:21804 . . . 0/1:-835.246,0,-999.919:1153:564:530:14478:16114 . . . . 1/1:-2295.42,-274.692,0:1133:23:1071:29031:685 . . . 0/1:-449.068,0,-741.013:755:412:308:8246:11583 . . . 0/1:-678.357,0,-838.152:1032:507:470:12569:14318 . . 0/1:-480.866,0,-691.556:817:423:349:9140:11491 0/1:-718.72,0,-909.193:1003:506:458:12575:14511 . 0/1:-391.548,0,-558.238:677:344:292:7407:9821 . 1/1:-2438.44,-280.133,0:1254:36:1166:31082:966 . . . 0/1:-381.036,0,-673.993:707:384:286:7590:11130 . 0/1:-879.621,0,-1407.38:1378:774:552:15704:21873 . . . 0/1:-873.179,0,-1159.91:1275:649:568:15405:18640 0/1:-886.68,0,-1174.12:1319:688:580:15584:19243 . . . 0/1:-767.815,0,-1052.59:1135:587:506:13663:16777 . . 0/1:-888.056,0,-1538.42:1492:824:598:16462:23719 0/1:-666.855,0,-720.041:840:409:394:11067:11744 . . . . . . 0/1:-777.122,0,-1119.51:1197:622:517:13702:17851 . 0/1:-896.826,0,-1388.74:1475:790:622:16746:22230 . 0/1:-790.217,0,-1041.87:1178:597:528:13862:16953 . . 0/1:-1124.57,0,-1846.77:1786:989:736:20154:28360 . 0/1:-934.158,0,-1417.77:1507:807:642:17148:22628 . . . 0/1:-1049.82,0,-1609.4:1392:784:574:17066:23522:784,574 . 0/1:-789.859,0,-1310.84:1103:639:431:13035:19027:639,431 . . . 0/1:-874.545,0,-1338.76:1166:653:488:14466:19661:653,488 . 0/1:-1054.04,0,-1439.02:1313:706:565:17116:21124:706,565 . . 1/1:-2455.07,-285.353,0:996:5:970:29142:110:5,970 . . . . . . chr11 6630524 . C T 13609.08 . AB=0.493251;ABP=3.71377;AC=3;AF=0.5;AN=6;AO=877;CIGAR=1X;DP=4985;DPB=1778;DPRA=0;EPP=12.2236;EPPR=3.03337;GTI=0;LEN=1;MEANALT=3;MQM=36.1357;MQMR=36.8654;NS=1;NUMALT=1;ODDS=3442.17;PAIRED=0.924743;PAIREDR=0.939787;PAO=0;PQA=0;PQR=0;PRO=0;QA=24677;QR=25763;RO=847;RPL=409;RPP=11.6293;RPPR=5.16639;RPR=468;RUN=1;SAF=443;SAP=3.21086;SAR=434;SF=0,1;SRF=388;SRP=15.934;SRR=459;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000399361;avsnp147=rs149710421;Kaviar_AF=0.000705;Kaviar_AC=109;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=9.626e-05;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0.0011;ExAC_SAS=0.0010;CLNALLELEID=241205;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.5921;dpsi_zscore=2.140;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=6.538e-05;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1505.26,0,-1581.45:1778:847:877:24677:25763 . . . . . . . 0/1:-1126.15,0,-1395.78:1528:763:701:19514:22682 . . . . . . . . . . . . . . . . . . . . 0/1:-1634.56,0,-1712.51:1679:822:827:24930:25871:822,827 . . . . . . . . . . . . . . chr11 6630833 . G A 18090.39 . AB=0.505825;ABP=3.49093;AC=52;AF=0.5;AN=90;AO=825;CIGAR=1X;DP=70878;DPB=1631;DPRA=0;EPP=163.591;EPPR=105.375;GTI=0;LEN=1;MEANALT=3;MQM=36.3745;MQMR=37.4872;NS=1;NUMALT=1;ODDS=3421.7;PAIRED=0.911515;PAIREDR=0.938619;PAO=0;PQA=0;PQR=0;PRO=0;QA=25549;QR=24340;RO=782;RPL=454;RPP=21.1428;RPPR=9.95235;RPR=371;RUN=1;SAF=442;SAP=12.1726;SAR=383;SF=0,1;SRF=427;SRP=17.4053;SRR=355;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon7:c.G636A:p.P212P,ILK:NM_001014795:exon8:c.G819A:p.P273P,ILK:NM_001278442:exon8:c.G417A:p.P139P,ILK:NM_001014794:exon9:c.G819A:p.P273P,ILK:NM_004517:exon9:c.G819A:p.P273P;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.3269;esp6500siv2_ea=0.2514;esp6500siv2_all=0.3269;esp6500siv2_ea=0.2514;1000g2015aug_all=0.347444;avsnp147=rs1043390;Kaviar_AF=0.275398;Kaviar_AC=42577;Kaviar_AN=154602;ExAC_ALL=0.2782;ExAC_AFR=0.4799;ExAC_AMR=0.2111;ExAC_EAS=0.3454;ExAC_FIN=0.2528;ExAC_NFE=0.2642;ExAC_OTH=0.2384;ExAC_SAS=0.2323;CLNALLELEID=141293;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0536;dpsi_zscore=-0.281;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2696;gnomAD_exome_AFR=0.4756;gnomAD_exome_AMR=0.2109;gnomAD_exome_ASJ=0.2849;gnomAD_exome_EAS=0.3444;gnomAD_exome_FIN=0.2441;gnomAD_exome_NFE=0.2615;gnomAD_exome_OTH=0.2559;gnomAD_exome_SAS=0.2348;gnomAD_genome_ALL=0.3227;gnomAD_genome_AFR=0.4732;gnomAD_genome_AMR=0.2076;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.3462;gnomAD_genome_FIN=0.2414;gnomAD_genome_NFE=0.2613;gnomAD_genome_OTH=0.2787;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-1572.88,0,-1507.07:1631:782:825:25549:24340 . . 0/1:-1683.48,0,-2036.89:1946:1016:892:27507:31857 0/1:-1486.79,0,-1536.57:1546:764:765:23479:23878 . . . . . 0/1:-1099.04,0,-1177.01:1188:591:573:17223:18564 . 0/1:-978.546,0,-1247.17:1220:651:544:16596:20268 . 0/1:-1407.18,0,-1370.51:1442:699:715:22048:21934 . . . . . . . 0/1:-1457.61,0,-1658.75:1612:824:759:23456:26029 0/1:-1330.1,0,-1579.74:1514:780:708:21453:24718 . 0/1:-1161.39,0,-1261.73:1262:631:607:18709:19793 . . 1/1:-4196.24,-426.647,0:1749:38:1676:52147:1113 . . . 1/1:-5237.94,-597.037,0:2192:22:2133:64476:629 . 0/1:-1236.92,0,-1625.12:1562:824:705:20985:25738 0/1:-1046.99,0,-1380.34:1247:668:562:17178:21072 1/1:-4153.3,-473.292,0:1715:19:1670:51048:479 0/1:-1459.95,0,-1524.8:1574:763:778:23548:24310 1/1:-3832.63,-409.976,0:1554:22:1508:47147:646 . . 0/1:-1520.52,0,-1715.63:1679:851:807:24797:27035 0/1:-1369.86,0,-1629.37:1597:819:748:22767:25392 . . . 0/1:-1614.79,0,-1880.06:1803:916:855:26165:28827 0/1:-1230.67,0,-1410.88:1471:740:691:20561:22713 . 0/1:-1872.71,0,-1827.48:1927:931:965:29659:29120 . . 1/1:-4040.46,-449.164,0:1646:19:1609:49932:510 . . . 0/1:-862.115,0,-945.133:998:488:484:14412:15471 . . . . . 0/1:-617.181,0,-997.586:886:512:354:10937:15587 . 0/1:-1438.05,0,-1503.01:1542:748:759:23270:23645 . . . . 0/1:-838.146,0,-1013.31:1123:573:519:15031:17156 . 1/1:-4831.17,-526.062,0:2009:28:1948:59663:860 0/1:-1658.79,0,-2169.79:1946:1042:871:27026:32702 . . 0/1:-910.169,0,-1078.29:1053:540:492:14785:16853 0/1:-1427.89,0,-1896.87:1751:928:789:23865:29234 0/1:-1756.98,0,-1709.25:1828:875:921:27969:27358 0/1:-1669.95,0,-2446.84:2170:1186:941:28404:37224 . 0/1:-1433.67,0,-1546.17:1582:788:762:23417:24560 0/1:-1411.28,0,-1679.61:1620:821:772:23371:25919 . . . . 0/1:-1895.21,0,-2372.12:2175:1152:985:30607:36442 0/1:-1333.55,0,-1600.72:1502:782:695:21737:24801 . 0/1:-1643.02,0,-1837.73:1857:921:897:27074:28860 . . 0/1:-1886.05,0,-1984.79:1814:911:883:28148:29260:911,883 . . 0/1:-1141.89,0,-1329.98:1160:611:538:17245:19493:611,538 . 0/1:-1650.37,0,-1615.9:1580:761:794:24667:24251:761,794 0/1:-1408.38,0,-1655.35:1464:756:691:21668:24264:756,691 . . . . 0/1:-1173.96,0,-1384.07:1213:624:575:18010:20258:624,575 . . 0/1:-1616.44,0,-1801.14:1627:832:780:24639:26577:832,780 0/1:-1472.15,0,-1758.77:1566:820:726:22624:25986:820,726 . . 1/1:-3468.8,-342.433,0:1335:20:1305:41054:640:20,1305 . chr11 6631016 . C T 16570.77 . AB=0.477459;ABP=9.47132;AC=48;AF=0.5;AN=84;AO=699;CIGAR=1X;DP=68953;DPB=1464;DPRA=0;EPP=100.335;EPPR=180.107;GTI=0;LEN=1;MEANALT=3;MQM=37.4564;MQMR=37.7329;NS=1;NUMALT=1;ODDS=2764.92;PAIRED=0.961373;PAIREDR=0.936986;PAO=0;PQA=0;PQR=0;PRO=0;QA=20395;QR=23152;RO=730;RPL=489;RPP=244.827;RPPR=246.322;RPR=210;RUN=1;SAF=239;SAP=154.737;SAR=460;SF=0,1;SRF=235;SRP=204.095;SRR=495;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon8:c.C735T:p.A245A,ILK:NM_001014795:exon9:c.C918T:p.A306A,ILK:NM_001278442:exon9:c.C516T:p.A172A,ILK:NM_001014794:exon10:c.C918T:p.A306A,ILK:NM_004517:exon10:c.C918T:p.A306A;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.2273;esp6500siv2_ea=0.2647;esp6500siv2_all=0.2273;esp6500siv2_ea=0.2647;1000g2015aug_all=0.160144;avsnp147=rs2292195;Kaviar_AF=0.226996;Kaviar_AC=35094;Kaviar_AN=154602;ExAC_ALL=0.2269;ExAC_AFR=0.1522;ExAC_AMR=0.2443;ExAC_EAS=0.1105;ExAC_FIN=0.2913;ExAC_NFE=0.2594;ExAC_OTH=0.2247;ExAC_SAS=0.1657;CLNALLELEID=141294;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0104;dpsi_zscore=-0.040;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2292;gnomAD_exome_AFR=0.1460;gnomAD_exome_AMR=0.2371;gnomAD_exome_ASJ=0.2539;gnomAD_exome_EAS=0.1078;gnomAD_exome_FIN=0.2976;gnomAD_exome_NFE=0.2581;gnomAD_exome_OTH=0.2348;gnomAD_exome_SAS=0.1666;gnomAD_genome_ALL=0.2265;gnomAD_genome_AFR=0.1492;gnomAD_genome_AMR=0.2231;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.1011;gnomAD_genome_FIN=0.2987;gnomAD_genome_NFE=0.2689;gnomAD_genome_OTH=0.2235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1259.24,0,-1482.76:1464:730:699:20395:23152 0/1:-800.8,0,-1064.15:1034:528:475:13695:16893 0/1:-1311.06,0,-1720.39:1668:860:759:21883:27021 0/1:-1812.66,0,-2339.73:2259:1159:1044:30514:36375 . 0/1:-1731.91,0,-1973.44:2014:979:985:28529:31095 . . . . . . . 0/1:-1992.64,0,-2733.9:2521:1330:1122:33065:41801 . . 0/1:-1194.65,0,-1607.71:1496:796:670:19608:25099 1/1:-2569.55,-319.535,0:1162:11:1114:31954:289 . . 0/1:-724.837,0,-1011.02:967:512:428:12283:15872 0/1:-1763.83,0,-2267.22:2154:1086:991:29259:34580 0/1:-1723.54,0,-2018.55:2028:1007:975:28082:31685 1/1:-2770.81,-344.862,0:1268:13:1204:34632:277 . . 0/1:-818.001,0,-1403.51:1259:691:523:14707:21781 . . 1/1:-4150.33,-437.734,0:1799:37:1713:51373:1067 . 0/1:-1446.29,0,-2030.89:1932:1023:848:24503:32009 0/1:-1219.01,0,-1763.14:1559:842:687:20273:26961 . . . 0/1:-1279.24,0,-1585.65:1608:814:752:21727:25539 . . . . 1/1:-3359.9,-356.471,0:1496:33:1416:41499:988 . . . 0/1:-766.493,0,-1034.41:970:508:442:12639:16022 0/1:-1138.16,0,-1285.57:1285:629:621:18547:20017 . . 0/1:-1192.09,0,-1712.58:1662:876:727:21020:27577 . . 0/1:-988.866,0,-1069.22:1178:560:573:16741:17533 0/1:-1029.92,0,-1485.99:1336:715:586:17094:23096 . 0/1:-780.758,0,-989.652:1018:518:470:13230:15899 . 1/1:-4513.05,-519.901,0:2053:32:1933:55413:879 . . . 0/1:-727.547,0,-1171.81:1083:587:474:13178:18397 . 0/1:-1606.65,0,-1930.19:1909:964:896:26084:30309 . . . 0/1:-1562.24,0,-1635.6:1709:813:853:25213:25768 0/1:-1568,0,-1741.45:1760:846:863:25293:27446 . . . 0/1:-1131.01,0,-1434.91:1390:707:641:18744:22478 . . 0/1:-1705.62,0,-1962.97:1997:995:957:27999:31160 0/1:-1060.92,0,-1234.23:1192:589:571:16919:18766 . . . . . . 0/1:-1482.34,0,-1617.67:1694:818:820:24117:25765 . 0/1:-1522.27,0,-1995.62:1902:972:865:25607:30887 . 0/1:-1209.09,0,-1374.6:1428:689:685:19819:21871 . . 0/1:-1648.87,0,-2534.9:2252:1206:989:28223:38419 . 0/1:-1676.25,0,-1873.89:1998:953:972:27653:29908 . . . 0/1:-2008.42,0,-2618.43:2224:1182:1006:30999:38068:1182,1006 . 0/1:-1607.58,0,-1886.22:1665:853:782:24736:27745:853,782 . . . 0/1:-1630.58,0,-2229.68:1834:997:807:25253:32190:997,807 . 0/1:-2078.58,0,-2323.83:2105:1057:1012:31424:34265:1057,1012 . . 1/1:-4158.57,-447.759,0:1621:13:1574:48925:364:13,1574 . . . . . . chr11 6631300 . G A 11126.36 . AB=0.453943;ABP=28.0134;AC=6;AF=0.5;AN=12;AO=616;CIGAR=1X;DP=9154;DPB=1357;DPRA=0;EPP=38.2615;EPPR=52.7111;GTI=0;LEN=1;MEANALT=3;MQM=35.5292;MQMR=36.3933;NS=1;NUMALT=1;ODDS=2210.95;PAIRED=0.935065;PAIREDR=0.945537;PAO=0;PQA=0;PQR=0;PRO=0;QA=16805;QR=18881;RO=661;RPL=371;RPP=58.9751;RPPR=39.2289;RPR=245;RUN=1;SAF=241;SAP=66.3073;SAR=375;SF=0,1;SRF=267;SRP=55.9962;SRR=394;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.0135;esp6500siv2_ea=0.0177;esp6500siv2_all=0.0135;esp6500siv2_ea=0.0177;1000g2015aug_all=0.00579073;avsnp147=rs41310330;Kaviar_AF=0.0113647;Kaviar_AC=1757;Kaviar_AN=154602;ExAC_ALL=0.0113;ExAC_AFR=0.0037;ExAC_AMR=0.0059;ExAC_EAS=0;ExAC_FIN=0.0073;ExAC_NFE=0.0173;ExAC_OTH=0.0121;ExAC_SAS=0.0030;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0437;dpsi_zscore=-0.236;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0111;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0080;gnomAD_exome_ASJ=0.0274;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0073;gnomAD_exome_NFE=0.0164;gnomAD_exome_OTH=0.0109;gnomAD_exome_SAS=0.0030;gnomAD_genome_ALL=0.0083;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0083;gnomAD_genome_NFE=0.0124;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-984.21,0,-1158.21:1357:661:616:16805:18881 . . . . . . . . . . . . . . . . . . 0/1:-986.441,0,-1266.36:1406:709:626:17142:20579 . . . . . . . . 0/1:-1363.83,0,-1664.95:1919:951:861:23539:27633 . . . . . . . . 0/1:-1054.1,0,-1219.41:1472:708:679:18585:20433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1055.54,0,-1176.03:1483:695:686:18370:19925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1354.71,0,-1428.78:1517:748:706:21046:22144:748,706 . . . . chr11 6631361 . C T 9132.70 . AB=0.458445;ABP=25.3887;AC=2;AF=0.5;AN=4;AO=684;CIGAR=1X;DP=2463;DPB=1492;DPRA=0;EPP=33.4998;EPPR=10.5915;GTI=0;LEN=1;MEANALT=3;MQM=34.5058;MQMR=34.9852;NS=1;NUMALT=1;ODDS=2525.39;PAIRED=0.915205;PAIREDR=0.919463;PAO=0;PQA=0;PQR=0;PRO=0;QA=19675;QR=21784;RO=745;RPL=336;RPP=3.46745;RPPR=4.55219;RPR=348;RUN=1;SAF=353;SAP=4.54684;SAR=331;SF=0;SRF=379;SRP=3.50289;SRR=366;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0068;1000g2015aug_all=0.019369;avsnp147=rs111833028;Kaviar_AF=0.0141331;Kaviar_AC=2185;Kaviar_AN=154602;ExAC_ALL=0.0155;ExAC_AFR=0.0091;ExAC_AMR=0.0351;ExAC_EAS=0.0051;ExAC_FIN=0.0032;ExAC_NFE=0.0051;ExAC_OTH=0.0121;ExAC_SAS=0.0584;CLNALLELEID=141295;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0846;dpsi_zscore=0.434;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0151;gnomAD_exome_AFR=0.0081;gnomAD_exome_AMR=0.0305;gnomAD_exome_ASJ=0.0035;gnomAD_exome_EAS=0.0060;gnomAD_exome_FIN=0.0031;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0137;gnomAD_exome_SAS=0.0563;gnomAD_genome_ALL=0.0081;gnomAD_genome_AFR=0.0087;gnomAD_genome_AMR=0.0334;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0062;gnomAD_genome_FIN=0.0031;gnomAD_genome_NFE=0.0080;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1108.81,0,-1272.08:1492:745:684:19675:21784 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-739.1,0,-844.524:971:488:450:12827:14562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 19204234 . C A 10967.90 . AB=0.492126;ABP=3.69423;AC=2;AF=0.5;AN=4;AO=625;CIGAR=1X;DP=2674;DPB=1270;DPRA=0;EPP=491.592;EPPR=493.416;GTI=0;LEN=1;MEANALT=3;MQM=37.4368;MQMR=38.1054;NS=1;NUMALT=1;ODDS=2375.09;PAIRED=0.9744;PAIREDR=0.985623;PAO=0;PQA=0;PQR=0;PRO=0;QA=17557;QR=17948;RO=626;RPL=336;RPP=10.6852;RPPR=9.72591;RPR=289;RUN=1;SAF=369;SAP=47.3743;SAR=256;SF=0;SRF=382;SRP=69.0702;SRR=244;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon7:c.G568T:p.V190L;cytoBand=11p15.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=.;avsnp147=rs145073736;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=8.237e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=511104;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.211;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.020;LRT_pred=N;MutationTaster_score=0.946;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.1;FATHMM_pred=T;PROVEAN_score=0.41;PROVEAN_pred=N;VEST3_score=0.144;CADD_raw=2.913;CADD_phred=21.9;DANN_score=0.984;fathmm-MKL_coding_score=0.841;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.110;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.15;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.523;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.092e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.661e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-1097.06,0,-1127.04:1270:626:625:17557:17948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1225.95,0,-1206.47:1404:661:721:19744:19229 . . . . . . . . . . . . . . . . . . . . . . . . . chr11 19207841 . C T 11525.41 . AB=0.487329;ABP=4.44102;AC=25;AF=0.5;AN=48;AO=500;CIGAR=1X;DP=28769;DPB=1026;DPRA=0;EPP=4.12209;EPPR=14.7536;GTI=0;LEN=1;MEANALT=3;MQM=37.766;MQMR=38.382;NS=1;NUMALT=1;ODDS=2144.31;PAIRED=0.952;PAIREDR=0.952;PAO=0;PQA=0;PQR=0;PRO=0;QA=14929;QR=15389;RO=500;RPL=169;RPP=116.987;RPPR=137.537;RPR=331;RUN=1;SAF=283;SAP=21.9282;SAR=217;SF=0,1;SRF=278;SRP=16.6298;SRR=222;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon5:c.G336A:p.A112A;cytoBand=11p15.1;genomicSuperDups=.;esp6500siv2_all=0.0775;esp6500siv2_ea=0.1073;esp6500siv2_all=0.0775;esp6500siv2_ea=0.1073;1000g2015aug_all=0.0427316;avsnp147=rs13451;Kaviar_AF=0.0830002;Kaviar_AC=12832;Kaviar_AN=154602;ExAC_ALL=0.0819;ExAC_AFR=0.0159;ExAC_AMR=0.0389;ExAC_EAS=0.0024;ExAC_FIN=0.1158;ExAC_NFE=0.1124;ExAC_OTH=0.0749;ExAC_SAS=0.0587;CLNALLELEID=53863;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3760;dpsi_zscore=-0.954;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0800;gnomAD_exome_AFR=0.0151;gnomAD_exome_AMR=0.0450;gnomAD_exome_ASJ=0.1149;gnomAD_exome_EAS=0.0023;gnomAD_exome_FIN=0.1050;gnomAD_exome_NFE=0.1089;gnomAD_exome_OTH=0.0839;gnomAD_exome_SAS=0.0590;gnomAD_genome_ALL=0.0699;gnomAD_genome_AFR=0.0181;gnomAD_genome_AMR=0.0394;gnomAD_genome_ASJ=0.1192;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.1073;gnomAD_genome_NFE=0.0981;gnomAD_genome_OTH=0.0906;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-952.09,0,-985.051:1026:500:500:14929:15389 0/1:-1259.98,0,-1437.99:1477:737:698:20439:22398 . . . . . . . . . . . . . . . . 0/1:-1000.1,0,-1183.74:1177:600:543:16109:18047 . . . 0/1:-599.256,0,-654.448:714:354:345:10019:10406 . . . . . . . 1/1:-2562.98,-293.746,0:1093:11:1062:31127:333 0/1:-1446.26,0,-1306.34:1481:690:762:22869:21253 . . . 0/1:-1101.22,0,-1320.14:1304:669:612:17889:20380 0/1:-873.733,0,-993.068:1002:493:487:14199:15130 0/1:-1179.66,0,-961.342:1155:521:615:18188:15535 . 0/1:-612.363,0,-601.86:664:320:328:9741:9700 . 0/1:-1124.36,0,-1045.85:1158:551:578:17398:16448 . 0/1:-1001.54,0,-1108.97:1155:586:544:16199:17663 . . . . . . . 0/1:-951.45,0,-931.186:1087:511:549:15571:15415 0/1:-1510.43,0,-1534.14:1629:792:808:24048:24278 . . . . . . . . . . . . . . 0/1:-1001.37,0,-1194.12:1163:604:540:16140:18407 . . . 0/1:-1484.79,0,-1482.56:1574:752:778:23222:23066 . . 0/1:-996.226,0,-867.53:1008:464:527:15683:14037 0/1:-1206.82,0,-1321.9:1401:709:658:19618:20912 . . . 0/1:-588.443,0,-813.692:773:418:340:9892:12636 . . . 0/1:-907.3,0,-1066.14:1088:555:515:14887:16777 . . . . . . . . . . . . . . . . . . . . . . 0/1:-1496.73,0,-1349.45:1428:661:741:22504:20688:661,741 . . . 0/1:-1482.44,0,-1503.35:1508:747:731:22347:23006:747,731 0/1:-1228.85,0,-1442.66:1311:686:599:18800:21255:686,599 . . . 0/1:-1557.99,0,-1278.22:1393:626:751:22933:19958:626,751 chr11 19207878 . C T 11033.60 . AB=0.420086;ABP=93.5938;AC=1;AF=0.5;AN=2;AO=686;CIGAR=1X;DP=1633;DPB=1633;DPRA=0;EPP=72.3455;EPPR=65.6207;GTI=0;LEN=1;MEANALT=3;MQM=37.0364;MQMR=37.4438;NS=1;NUMALT=1;ODDS=2540.59;PAIRED=0.930029;PAIREDR=0.935484;PAO=0;PQA=0;PQR=0;PRO=0;QA=19364;QR=27121;RO=899;RPL=380;RPP=20.3441;RPPR=3.20595;RPR=306;RUN=1;SAF=389;SAP=29.8023;SAR=297;SF=0;SRF=490;SRP=18.8579;SRR=409;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon5:c.G299A:p.R100H;cytoBand=11p15.1;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000199681;avsnp147=rs138218523;Kaviar_AF=0.0012096;Kaviar_AC=187;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0;ExAC_AMR=8.642e-05;ExAC_EAS=0;ExAC_FIN=0.0053;ExAC_NFE=0.0020;ExAC_OTH=0.0022;ExAC_SAS=0.0001;CLNALLELEID=53861;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.535;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-1.3;PROVEAN_pred=N;VEST3_score=0.883;CADD_raw=4.863;CADD_phred=24.9;DANN_score=0.999;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.496;MetaSVM_pred=T;MetaLR_score=0.317;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.85;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.833;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=19.759;GDI_full_10282015=.;dpsi_max_tissue=-0.2245;dpsi_zscore=-0.733;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM091458#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0051;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0040;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1129.24,0,-1766.25:1633:899:686:19364:27121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 19209703 . A G 9008.63 . AB=0.467787;ABP=12.6633;AC=1;AF=0.5;AN=2;AO=501;CIGAR=1X;DP=1071;DPB=1071;DPRA=0;EPP=37.3421;EPPR=63.3092;GTI=0;LEN=1;MEANALT=3;MQM=36.998;MQMR=38.5075;NS=1;NUMALT=1;ODDS=2074.31;PAIRED=0.912176;PAIREDR=0.901119;PAO=0;PQA=0;PQR=0;PRO=0;QA=14856;QR=15747;RO=536;RPL=219;RPP=20.213;RPPR=7.69355;RPR=282;RUN=1;SAF=226;SAP=13.4169;SAR=275;SF=0;SRF=236;SRP=19.6042;SRR=300;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon4:c.T261C:p.H87H;cytoBand=11p15.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs773476497;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=1.648e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=526013;CLNDN=Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12;CLNDISDB=MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4819;dpsi_zscore=-1.073;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.22e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.694e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-915.276,0,-1010.99:1071:536:501:14856:15747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47353498 . G A 16111.74 . AB=0.471024;ABP=13.8325;AC=33;AF=0.5;AN=58;AO=699;CIGAR=1X;DP=48966;DPB=1484;DPRA=0;EPP=3.26193;EPPR=3.5793;GTI=0;LEN=1;MEANALT=3;MQM=33.9871;MQMR=35.3436;NS=1;NUMALT=1;ODDS=2608.36;PAIRED=0.898426;PAIREDR=0.850267;PAO=0;PQA=0;PQR=0;PRO=0;QA=20310;QR=23273;RO=748;RPL=459;RPP=152.003;RPPR=116.821;RPR=240;RUN=1;SAF=350;SAP=3.01341;SAR=349;SF=0,1;SRF=400;SRP=10.8601;SRR=348;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.2519;esp6500siv2_ea=0.1747;esp6500siv2_all=0.2519;esp6500siv2_ea=0.1747;1000g2015aug_all=0.356629;avsnp147=rs2290146;Kaviar_AF=0.0454199;Kaviar_AC=7022;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8147;dpsi_zscore=1.397;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.2873;gnomAD_genome_AFR=0.4297;gnomAD_genome_AMR=0.3481;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.6054;gnomAD_genome_FIN=0.2755;gnomAD_genome_NFE=0.1750;gnomAD_genome_OTH=0.2449;Whole_Blood=Whole_Blood::0.207317::-0.248702;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-1156.55,0,-1396.43:1484:748:699:20310:23273 0/1:-1360.77,0,-1751.91:1883:975:861:24878:29466 . 0/1:-1392.34,0,-1674.45:1834:929:865:24804:28711 0/1:-1074.07,0,-1468.14:1530:785:706:20097:24603 . . . 0/1:-1014.51,0,-1295.24:1348:706:616:17996:21845 0/1:-1925.3,0,-2435.65:2488:1268:1175:34133:39691 1/1:-2601.04,-336.091,0:1248:15:1192:34532:430 . . 0/1:-1077.54,0,-1285.43:1418:725:659:19144:22197 . . . 0/1:-1779.3,0,-2097.8:2229:1126:1054:30978:34909 . 0/1:-1044.7,0,-1192.96:1348:663:646:18848:20550 . . . . . . . . 0/1:-1309.66,0,-1508.82:1596:800:763:22573:25094 . . . . . . . . . . . . . . . . 1/1:-3340.33,-405.481,0:1676:36:1578:45375:991 . . . . . . . 0/1:-1411.28,0,-1524.09:1777:868:878:25392:26369 . . . . 0/1:-1549.35,0,-2126.49:2089:1107:943:28068:34707 0/1:-1528.92,0,-1750.44:1854:925:889:26386:28981 . . . . . . . . . 0/1:-1617.21,0,-1973.33:2181:1106:1008:28940:33796 . 0/1:-1554.15,0,-1739.37:1922:952:928:26993:29725 . 0/1:-419.201,0,-967.271:866:520:317:8936:16065 0/1:-1436.81,0,-1715.81:1877:939:884:25376:29110 . . 0/1:-1324.88,0,-1458.87:1616:790:793:23019:24661 . . 1/1:-2629.09,-322.553,0:1270:23:1201:34521:592 . 0/1:-784.582,0,-818.784:925:445:462:13365:13981 . . . . . . . 0/1:-1807.89,0,-2101.96:1929:1022:885:27753:31128:1022,885 0/1:-1660.77,0,-1854.55:1697:887:795:25195:27473:887,795 . . 0/1:-1578.48,0,-1735.6:1621:854:763:24258:26038:854,763 . . . . . . . . . 1/1:-4989.95,-488.354,0:1942:38:1884:59566:1043:38,1884 . 0/1:-1745.18,0,-1970.48:1801:940:839:26603:29098:940,839 0/1:-1694.41,0,-1522.21:1549:745:792:25219:23318:745,792 . 0/1:-2046.17,0,-2076.29:1968:995:953:30533:30925:995,953 chr11 47353695 . C T 11178.30 . AB=0.439812;ABP=56.5958;AC=1;AF=0.5;AN=2;AO=749;CIGAR=1X;DP=1703;DPB=1703;DPRA=0;EPP=7.88379;EPPR=3.21132;GTI=0;LEN=1;MEANALT=3;MQM=33.9119;MQMR=34.12;NS=1;NUMALT=1;ODDS=2573.9;PAIRED=0.941255;PAIREDR=0.930286;PAO=0;PQA=0;PQR=0;PRO=0;QA=20486;QR=25949;RO=875;RPL=310;RPP=51.2553;RPPR=22.6677;RPR=439;RUN=1;SAF=409;SAP=16.8132;SAR=340;SF=0;SRF=520;SRP=70.5741;SRR=355;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon32:c.G3742A:p.G1248R;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs202147520;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.324e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.02e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=51909;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.039;SIFT_pred=D;Polyphen2_HDIV_score=0.726;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.344;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.065;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-5.31;PROVEAN_pred=D;VEST3_score=0.717;CADD_raw=4.508;CADD_phred=24.3;DANN_score=0.991;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.763;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=3.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.060;phastCons7way_vertebrate=0.909;phastCons20way_mammalian=0.027;SiPhy_29way_logOdds=11.518;GDI_full_10282015=.;dpsi_max_tissue=-2.2535;dpsi_zscore=-1.974;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM081703#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=3.25e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.375e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1134.98,0,-1534.85:1703:875:749:20486:25949 . . . . . . . . . . . . . . . . . . . . . chr11 47354485 . A G 3134.79 . AB=0.420807;ABP=38.091;AC=1;AF=0.5;AN=2;AO=271;CIGAR=1X;DP=644;DPB=644;DPRA=0;EPP=10.7106;EPPR=13.9066;GTI=0;LEN=1;MEANALT=3;MQM=28.321;MQMR=30.3045;NS=1;NUMALT=1;ODDS=721.813;PAIRED=0.797048;PAIREDR=0.773134;PAO=0;PQA=0;PQR=0;PRO=0;QA=7609;QR=10008;RO=335;RPL=185;RPP=81.5439;RPPR=291.596;RPR=86;RUN=1;SAF=126;SAP=5.90293;SAR=145;SF=0;SRF=177;SRP=5.3503;SRR=158;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon30:c.T3370C:p.C1124R;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.755;MutationAssessor_pred=H;FATHMM_score=-2.49;FATHMM_pred=D;PROVEAN_score=-8.41;PROVEAN_pred=D;VEST3_score=0.987;CADD_raw=6.209;CADD_phred=28.7;DANN_score=0.998;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=1.003;MetaSVM_pred=D;MetaLR_score=0.877;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.179;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=14.558;GDI_full_10282015=.;dpsi_max_tissue=0.0266;dpsi_zscore=0.177;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM119645#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.236e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.685e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-331.446,0,-517.49:644:335:271:7609:10008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47354787 . C T 12918.04 . AB=0.429138;ABP=79.9474;AC=66;AF=0.5;AN=114;AO=757;CIGAR=1X;DP=89968;DPB=1764;DPRA=0;EPP=8.81906;EPPR=11.9282;GTI=0;LEN=1;MEANALT=3;MQM=32.8098;MQMR=34.2126;NS=1;NUMALT=1;ODDS=2289.75;PAIRED=0.910172;PAIREDR=0.913462;PAO=0;PQA=0;PQR=0;PRO=0;QA=20447;QR=29095;RO=936;RPL=258;RPP=169.617;RPPR=363.15;RPR=499;RUN=1;SAF=505;SAP=186.622;SAR=252;SF=0,1;SRF=610;SRP=190.128;SRR=326;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon29:c.G3288A:p.E1096E;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.3550;esp6500siv2_ea=0.3039;esp6500siv2_all=0.3550;esp6500siv2_ea=0.3039;1000g2015aug_all=0.476238;avsnp147=rs1052373;Kaviar_AF=0.353605;Kaviar_AC=54668;Kaviar_AN=154602;ExAC_ALL=0.4707;ExAC_AFR=0.5417;ExAC_AMR=0.5499;ExAC_EAS=0.7248;ExAC_FIN=0.5246;ExAC_NFE=0.3910;ExAC_OTH=0.3691;ExAC_SAS=0.5002;CLNALLELEID=51870;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0460;dpsi_zscore=-0.247;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4018;gnomAD_exome_AFR=0.5011;gnomAD_exome_AMR=0.4434;gnomAD_exome_ASJ=0.2603;gnomAD_exome_EAS=0.6981;gnomAD_exome_FIN=0.4259;gnomAD_exome_NFE=0.3187;gnomAD_exome_OTH=0.3333;gnomAD_exome_SAS=0.4666;gnomAD_genome_ALL=0.3986;gnomAD_genome_AFR=0.4834;gnomAD_genome_AMR=0.4010;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.6979;gnomAD_genome_FIN=0.4185;gnomAD_genome_NFE=0.3157;gnomAD_genome_OTH=0.3914;Whole_Blood=Whole_Blood::0.349593::-0.172697;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1043.07,0,-1738.44:1764:936:757:20447:29095 . . . . 0/1:-804.674,0,-1475.5:1402:767:581:15712:24185 0/1:-1344.39,0,-1792.96:1961:980:895:24575:30905 . 0/1:-1030.29,0,-1691.7:1691:897:724:20142:27926 1/1:-2542.06,-277.313,0:1454:76:1279:34975:1693 . . 0/1:-814.538,0,-1329.09:1410:745:611:16568:23640 0/1:-812.442,0,-1329.77:1315:702:554:15356:22097 0/1:-1501.17,0,-2079.71:2237:1134:1022:27922:35376 1/1:-2304.6,-299.656,0:1285:45:1148:31245:931 . . 0/1:-780.832,0,-1267.15:1263:671:545:15057:20607 . . . 0/1:-1401.19,0,-1703.65:1933:925:926:25304:28933 . 1/1:-2250.67,-287.471,0:1285:53:1139:31616:956 0/1:-1174.5,0,-1607.32:1685:853:769:21659:26671 0/1:-893.649,0,-1399.89:1410:748:616:16994:23400 . 0/1:-784.282,0,-1503.99:1328:744:546:15057:23416 . 0/1:-1176.64,0,-1515.89:1652:824:755:21330:25917 0/1:-1152.14,0,-1733.71:1790:938:786:21947:29386 0/1:-1203.21,0,-1948.53:2024:1079:862:23310:33490 0/1:-952.674,0,-1421.1:1480:767:660:17952:23984 . 0/1:-1414.96,0,-2410.04:2489:1345:1038:28240:41294 . . . . . 0/1:-1109.9,0,-1515.63:1657:839:739:20447:26017 0/1:-951.277,0,-1439.71:1513:797:655:18365:25070 0/1:-1166.58,0,-1621.89:1770:892:794:21679:27981 . . 0/1:-668.342,0,-1050.83:1045:538:457:12654:17193 0/1:-663.521,0,-1051.57:1070:555:470:12869:17614 . . 1/1:-2617.37,-340.55,0:1506:57:1340:36366:1242 . 0/1:-1325.25,0,-1902:1954:1038:856:24001:32073 . . 0/1:-1303.15,0,-1673.81:1866:925:858:23643:28390 . . 0/1:-1365.79,0,-1735.71:1962:989:896:25061:30892 0/1:-747.744,0,-1025.02:1195:602:548:15066:18610 . . . 0/1:-1178.63,0,-1725.56:1822:939:801:22090:29024 0/1:-1019.42,0,-1768.23:1726:916:733:20243:28713 . . . . 0/1:-1076.48,0,-1533.98:1618:828:738:20387:25955 0/1:-1397.9,0,-2075.81:2127:1100:926:26051:34512 . . . 0/1:-1315.74,0,-2009.23:2162:1122:940:25321:34473 0/1:-1165.6,0,-1715.8:1776:918:777:21609:28526 0/1:-1100.13,0,-1791.23:1865:980:802:21642:30898 . 0/1:-583.564,0,-954.939:986:522:420:11393:16154 0/1:-1125.13,0,-1564.46:1722:882:776:21512:27233 . . 0/1:-968.613,0,-1560.36:1575:848:664:18310:26424 . . 1/1:-2007.26,-216.074,0:1121:53:977:27131:1282 0/1:-1118.86,0,-1820.31:1838:977:791:21484:30543 0/1:-625.943,0,-828.854:887:440:415:11480:13798 0/1:-856.762,0,-1241.15:1316:662:610:16498:20893 . . . . . . 1/1:-3975.52,-398.923,0:1617:33:1555:47448:969:33,1555 0/1:-1282.59,0,-1553.67:1400:709:666:19985:23014:709,666 0/1:-1585.57,0,-1896.79:1691:850:806:24300:27690:850,806 . 0/1:-1216.47,0,-1544.94:1366:716:631:19200:22809:716,631 . . . . . 0/1:-1432.04,0,-1771.05:1569:817:729:22313:26145:817,729 . 0/1:-1277.59,0,-1674.3:1450:769:656:19866:24814:769,656 0/1:-1194.38,0,-1435.09:1312:659:623:18684:21232:659,623 1/1:-3484.51,-351.053,0:1464:30:1403:42007:950:30,1403 0/1:-1328.59,0,-1696.12:1457:763:676:20646:24620:763,676 0/1:-1334.45,0,-2095.16:1683:943:715:21533:30544:943,715 1/1:-3169.24,-341.731,0:1293:16:1237:37286:438:16,1237 0/1:-1307.73,0,-1484.31:1350:668:657:19978:21962:668,657 1/1:-3383.36,-323.857,0:1379:35:1312:40327:1016:35,1312 chr11 47354905 . T C 11512.63 . AB=0.491491;ABP=3.93417;AC=28;AF=0.5;AN=54;AO=722;CIGAR=1X;DP=40718;DPB=1469;DPRA=0;EPP=20.3821;EPPR=13.2969;GTI=0;LEN=1;MEANALT=3;MQM=33.1856;MQMR=34.9728;NS=1;NUMALT=1;ODDS=2147.85;PAIRED=0.927978;PAIREDR=0.892749;PAO=0;PQA=0;PQR=0;PRO=0;QA=19942;QR=17431;RO=662;RPL=506;RPP=255.948;RPPR=302.175;RPR=216;RUN=1;SAF=345;SAP=6.09006;SAR=377;SF=0,1;SRF=327;SRP=3.22023;SRR=335;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0787;esp6500siv2_ea=0.1060;esp6500siv2_all=0.0787;esp6500siv2_ea=0.1060;1000g2015aug_all=0.0329473;avsnp147=rs11570115;Kaviar_AF=0.0585245;Kaviar_AC=9048;Kaviar_AN=154602;ExAC_ALL=0.1069;ExAC_AFR=0.0276;ExAC_AMR=0.0710;ExAC_EAS=0.0005;ExAC_FIN=0.1269;ExAC_NFE=0.1510;ExAC_OTH=0.1570;ExAC_SAS=0.0430;CLNALLELEID=186356;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1002;dpsi_zscore=-0.449;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0700;gnomAD_exome_AFR=0.0150;gnomAD_exome_AMR=0.0435;gnomAD_exome_ASJ=0.0878;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0871;gnomAD_exome_NFE=0.1074;gnomAD_exome_OTH=0.0728;gnomAD_exome_SAS=0.0297;gnomAD_genome_ALL=0.0800;gnomAD_genome_AFR=0.0186;gnomAD_genome_AMR=0.0549;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1002;gnomAD_genome_NFE=0.1200;gnomAD_genome_OTH=0.0902;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1134.22,0,-973.61:1469:662:722:19942:17431 . . 0/1:-1381.51,0,-1470.53:2047:995:948:25046:26031 . . . . . 0/1:-927.861,0,-1034.44:1452:704:655:17431:18222 . 0/1:-1107.44,0,-771.912:1409:590:742:19366:15479 . . . . 0/1:-1251.8,0,-878.586:1500:646:778:21559:16718 . . . 0/1:-713.18,0,-666.86:1008:474:489:12886:12382 . . . . . . . 0/1:-1056.74,0,-831.397:1307:588:650:17799:15058 . . 0/1:-1352.77,0,-1184.51:1796:802:902:24205:21968 . . . . . . 0/1:-1249.86,0,-1321.26:1785:859:831:22106:23004 . . . 0/1:-1225.11,0,-1175.95:1699:776:827:22263:21219 . . . . 0/1:-1239.04,0,-1300.22:1771:864:822:22784:22294 0/1:-1400.24,0,-1091.28:1745:783:873:23736:20092 . . . . 0/1:-892.714,0,-922.752:1237:596:567:15342:15400 . 1/1:-2000.1,-269.009,0:1025:20:989:26756:492 0/1:-848.059,0,-878.442:1199:574:559:14688:15399 0/1:-1331.09,0,-1286.78:1838:844:904:23927:22851 . . . . . . . . 0/1:-1216.82,0,-1059.22:1613:725:773:20997:18929 0/1:-1266.71,0,-1236.67:1805:825:880:23448:22265 . . . 0/1:-743.001,0,-746.078:1221:558:576:14599:14993 . . . . 0/1:-692.416,0,-734.121:997:482:456:12592:12648 . 0/1:-1267.61,0,-1110.95:1640:739:806:21849:20215 0/1:-1318.19,0,-1404.64:1949:919:925:24177:24730 . 0/1:-1065.38,0,-1000.96:1453:674:704:18546:18158 . 0/1:-1190.1,0,-1068.64:1595:740:770:20949:19269 . . . . . 0/1:-1144.32,0,-963.211:1517:670:763:20156:17394 . . . . . . . . . . . . . 0/1:-1534.31,0,-1610.97:1569:799:737:23135:23998:799,737 . . . . . . . . 0/1:-1157.63,0,-1015.39:1072:515:542:17176:15431:515,542 . chr11 47355191 . C T 10331.60 . AB=0.45083;ABP=35.8958;AC=1;AF=0.5;AN=2;AO=706;CIGAR=1X;DP=1566;DPB=1566;DPRA=0;EPP=13.3571;EPPR=13.3561;GTI=0;LEN=1;MEANALT=3;MQM=34.9589;MQMR=34.6748;NS=1;NUMALT=1;ODDS=2378.93;PAIRED=0.892351;PAIREDR=0.903969;PAO=0;PQA=0;PQR=0;PRO=0;QA=18706;QR=24025;RO=781;RPL=324;RPP=13.3571;RPPR=8.64056;RPR=382;RUN=1;SAF=364;SAP=4.49896;SAR=342;SF=0;SRF=386;SRP=3.23551;SRR=395;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon28:c.G3107A:p.R1036H;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs374255381;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.813e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.022e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=179213;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.063;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.973;MutationTaster_pred=N;MutationAssessor_score=1.52;MutationAssessor_pred=L;FATHMM_score=0.9;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_pred=N;VEST3_score=0.085;CADD_raw=3.321;CADD_phred=22.9;DANN_score=0.992;fathmm-MKL_coding_score=0.066;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.863;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=-0.759;phyloP7way_vertebrate=-0.760;phyloP20way_mammalian=0.026;phastCons7way_vertebrate=0.423;phastCons20way_mammalian=0.498;SiPhy_29way_logOdds=10.204;GDI_full_10282015=.;dpsi_max_tissue=-0.1988;dpsi_zscore=-0.685;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.191e-05;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.463e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-1044.45,0,-1436.6:1566:781:706:18706:24025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47357416 . G A,C 760.80 . AB=0.433333;ABP=6.48466;AC=7,0;AF=0.5;AN=18;AO=39;CIGAR=1X;DP=1700;DPB=90;DPRA=0;EPP=4.40227;EPPR=3.46479;GTI=0;LEN=1;MEANALT=3;MQM=27.6154;MQMR=25.5349;NS=1;NUMALT=1;ODDS=87.1287;PAIRED=0.512821;PAIREDR=0.418605;PAO=0;PQA=0;PQR=0;PRO=0;QA=1047;QR=1259;RO=43;RPL=13;RPP=12.42;RPPR=4.27278;RPR=26;RUN=1;SAF=35;SAP=56.5176;SAR=4;SF=0,1;SRF=39;SRP=64.872;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0338;esp6500siv2_ea=0.0257;esp6500siv2_all=0.0338;esp6500siv2_ea=0.0257;1000g2015aug_all=0.0547125;avsnp147=rs3729936;Kaviar_AF=0.0271342;Kaviar_AC=4195;Kaviar_AN=154602;ExAC_ALL=0.1009;ExAC_AFR=0.1157;ExAC_AMR=0.0432;ExAC_EAS=0.1107;ExAC_FIN=0.0793;ExAC_NFE=0.0528;ExAC_OTH=0.0328;ExAC_SAS=0.1499;CLNALLELEID=51823;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1252;dpsi_zscore=-0.521;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS135116#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0338;gnomAD_exome_AFR=0.0501;gnomAD_exome_AMR=0.0097;gnomAD_exome_ASJ=0.0098;gnomAD_exome_EAS=0.0311;gnomAD_exome_FIN=0.0222;gnomAD_exome_NFE=0.0239;gnomAD_exome_OTH=0.0205;gnomAD_exome_SAS=0.0980;gnomAD_genome_ALL=0.0350;gnomAD_genome_AFR=0.0554;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0347;gnomAD_genome_FIN=0.0221;gnomAD_genome_NFE=0.0275;gnomAD_genome_OTH=0.0337;Whole_Blood=Whole_Blood::0.0392954::0.293814;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2501;dpsi_zscore=-0.776;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-50.6256,0,-51.49,.,.,.:90:43:39,.:1047,.:1259 . . . . . . . . . . . . 0/1:-60.2605,0,-144.396,.,.,.:176:94:64,.:1588,.:2959 . . . . 0/1:-104.355,0,-113.824,.,.,.:201:89:93,.:2405,.:2561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-138.117,0,-172.26,.,.,.:260:123:117,.:3170,.:3544 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,.,.,-25.6653,.,-244.485:116:110:.,6:.,109:3269:110,6 . . . . . . . . 0/1:-116.735,0,-163.868,.,.,.:182:93:76,.:2145,.:2867:93,76 . . 0/0:0,.,.,-60.3125,.,-535.008:260:245:.,13:.,222:7343:245,13 . . 0/1:-128.024,0,-174.343,.,.,.:200:98:86,.:2537,.:2871:98,86 0/1:-162.133,0,-171.583,.,.,.:215:103:93,.:2718,.:3066:103,93 chr11 47358997 . G A 7700.69 . AB=0.451613;ABP=18.771;AC=8;AF=0.5;AN=16;AO=350;CIGAR=1X;DP=9111;DPB=775;DPRA=0;EPP=3.90371;EPPR=3.01585;GTI=0;LEN=1;MEANALT=3;MQM=31.9143;MQMR=31.6266;NS=1;NUMALT=1;ODDS=1096.42;PAIRED=0.86;PAIREDR=0.828645;PAO=0;PQA=0;PQR=0;PRO=0;QA=9613;QR=12045;RO=391;RPL=124;RPP=67.5589;RPPR=22.3425;RPR=226;RUN=1;SAF=205;SAP=25.3454;SAR=145;SF=0,1;SRF=252;SRP=73.9247;SRR=139;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon24:c.C2547T:p.V849V;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0300;esp6500siv2_ea=0.0351;esp6500siv2_all=0.0300;esp6500siv2_ea=0.0351;1000g2015aug_all=0.048123;avsnp147=rs3729953;Kaviar_AF=0.0437252;Kaviar_AC=6760;Kaviar_AN=154602;ExAC_ALL=0.0464;ExAC_AFR=0.0223;ExAC_AMR=0.0132;ExAC_EAS=0.0406;ExAC_FIN=0.0468;ExAC_NFE=0.0385;ExAC_OTH=0.0238;ExAC_SAS=0.1220;CLNALLELEID=51808;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2262;dpsi_zscore=-0.735;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0438;gnomAD_exome_AFR=0.0216;gnomAD_exome_AMR=0.0131;gnomAD_exome_ASJ=0.0126;gnomAD_exome_EAS=0.0381;gnomAD_exome_FIN=0.0496;gnomAD_exome_NFE=0.0385;gnomAD_exome_OTH=0.0347;gnomAD_exome_SAS=0.1181;gnomAD_genome_ALL=0.0358;gnomAD_genome_AFR=0.0209;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0364;gnomAD_genome_FIN=0.0518;gnomAD_genome_NFE=0.0411;gnomAD_genome_OTH=0.0491;Whole_Blood=Whole_Blood::0.0447154::0.324661;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-493.164,0,-649.826:775:391:350:9613:12045 . . . . . . . . . . 0/1:-720.233,0,-965.763:1156:598:519:14533:18069 . 0/1:-680.387,0,-932.09:1089:558:494:13068:16727 . . . . 0/1:-704.69,0,-958.513:1063:554:478:13386:16805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-916.241,0,-1382.85:1446:752:641:17637:23356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1166.21,0,-1207.97:1171:572:585:18517:18828:572,585 . . . . . 0/1:-1187.76,0,-1042.63:1058:493:553:18082:16268:493,553 0/1:-1349.49,0,-1400.72:1353:673:668:21151:21832:673,668 chr11 47359343 . C T 328.38 . AB=0.461538;ABP=4.17955;AC=1;AF=0.5;AN=2;AO=42;CIGAR=1X;DP=91;DPB=91;DPRA=0;EPP=37.9607;EPPR=24.2907;GTI=0;LEN=1;MEANALT=2;MQM=26.5476;MQMR=29.9333;NS=1;NUMALT=1;ODDS=75.6111;PAIRED=0.904762;PAIREDR=0.866667;PAO=0;PQA=0;PQR=0;PRO=0;QA=1230;QR=1412;RO=45;RPL=37;RPP=55.9529;RPPR=43.5927;RPR=5;RUN=1;SAF=7;SAP=43.5445;SAR=35;SF=0;SRF=8;SRP=43.5927;SRR=37;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon23:c.G2311A:p.V771M;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs371488302;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=5.661e-05;ExAC_AFR=0;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=171136;CLNDN=Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.927;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.91;MutationAssessor_pred=M;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-2.14;PROVEAN_pred=N;VEST3_score=0.82;CADD_raw=5.608;CADD_phred=26.5;DANN_score=0.998;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.268;MetaSVM_pred=T;MetaLR_score=0.343;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.75;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.867;phastCons7way_vertebrate=0.402;phastCons20way_mammalian=0.340;SiPhy_29way_logOdds=11.601;GDI_full_10282015=.;dpsi_max_tissue=0.2036;dpsi_zscore=0.729;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM056362#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=4.108e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.856e-05;gnomAD_exome_OTH=0.0003;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-51.9487,0,-72.8329:91:45:42:1230:1412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47360053 . G C 6435.74 . AB=0.436728;ABP=25.5427;AC=8;AF=0.5;AN=16;AO=283;CIGAR=1X;DP=6915;DPB=648;DPRA=0;EPP=19.9601;EPPR=8.88857;GTI=0;LEN=1;MEANALT=3;MQM=29.8834;MQMR=31.3183;NS=1;NUMALT=1;ODDS=820.373;PAIRED=0.890459;PAIREDR=0.915493;PAO=0;PQA=0;PQR=0;PRO=0;QA=7668;QR=10752;RO=355;RPL=110;RPP=33.4646;RPPR=53.6637;RPR=173;RUN=1;SAF=140;SAP=3.07936;SAR=143;SF=0,1;SRF=194;SRP=9.67152;SRR=161;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0506;esp6500siv2_ea=0.0363;esp6500siv2_all=0.0506;esp6500siv2_ea=0.0363;1000g2015aug_all=0.0694888;avsnp147=rs3729948;Kaviar_AF=0.0497212;Kaviar_AC=7687;Kaviar_AN=154602;ExAC_ALL=0.0522;ExAC_AFR=0.0866;ExAC_AMR=0.0152;ExAC_EAS=0.0408;ExAC_FIN=0.0469;ExAC_NFE=0.0392;ExAC_OTH=0.0268;ExAC_SAS=0.1198;CLNALLELEID=186368;CLNDN=Familial_hypertrophic_cardiomyopathy_4|not_specified;CLNDISDB=MedGen:C1861862,OMIM:115197|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0516;dpsi_zscore=-0.272;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0486;gnomAD_exome_AFR=0.0831;gnomAD_exome_AMR=0.0154;gnomAD_exome_ASJ=0.0125;gnomAD_exome_EAS=0.0383;gnomAD_exome_FIN=0.0500;gnomAD_exome_NFE=0.0393;gnomAD_exome_OTH=0.0379;gnomAD_exome_SAS=0.1196;gnomAD_genome_ALL=0.0540;gnomAD_genome_AFR=0.0828;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0364;gnomAD_genome_FIN=0.0521;gnomAD_genome_NFE=0.0421;gnomAD_genome_OTH=0.0550;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-370.286,0,-582.069:648:355:283:7668:10752 . . . . . . . . . . 0/1:-603.243,0,-731.753:880:438:430:11922:13065 . 0/1:-658.004,0,-640.676:818:383:425:12024:11662 . . . . 0/1:-693.759,0,-818.418:956:482:465:12956:14763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-840.146,0,-863.881:1054:508:531:15142:15368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-801.555,0,-945.538:842:423:404:12584:13959:423,404 . . . . . 0/1:-743.977,0,-787.22:732:373:350:11163:11883:373,350 0/1:-860.992,0,-1150.74:985:536:435:13625:17074:536,435 chr11 47360123 . T C 6555.75 . AB=0.447205;ABP=30.2953;AC=1;AF=0.5;AN=2;AO=504;CIGAR=1X;DP=1127;DPB=1127;DPRA=0;EPP=7.42218;EPPR=5.55876;GTI=0;LEN=1;MEANALT=3;MQM=29.619;MQMR=31.7188;NS=1;NUMALT=1;ODDS=1509.52;PAIRED=0.829365;PAIREDR=0.784722;PAO=0;PQA=0;PQR=0;PRO=0;QA=13798;QR=17163;RO=576;RPL=270;RPP=8.59409;RPPR=7.36832;RPR=234;RUN=1;SAF=192;SAP=65.0524;SAR=312;SF=0;SRF=244;SRP=32.2045;SRR=332;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon22:c.A2256G:p.T752T;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3034;dpsi_zscore=0.896;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-671.831,0,-919.805:1127:576:504:13798:17163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47360129 . C T 3172.50 . AB=0.479769;ABP=4.85542;AC=1;AF=0.5;AN=2;AO=249;CIGAR=1X;DP=519;DPB=519;DPRA=0;EPP=3.08879;EPPR=8.37461;GTI=0;LEN=1;MEANALT=3;MQM=29.5261;MQMR=28.3557;NS=1;NUMALT=1;ODDS=730.494;PAIRED=0.863454;PAIREDR=0.84585;PAO=0;PQA=0;PQR=0;PRO=0;QA=6954;QR=7363;RO=253;RPL=166;RPP=63.0877;RPPR=20.3907;RPR=83;RUN=1;SAF=94;SAP=35.4603;SAR=155;SF=0;SRF=103;SRP=21.9699;SRR=150;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon22:c.G2250A:p.T750T;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs373338699;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.489e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.063e-05;CLNALLELEID=372417;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3570;dpsi_zscore=-0.931;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.625e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-333.966,0,-348.543:519:253:249:6954:7363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47360829 . G A 1316.59 . AB=0.477733;ABP=4.07406;AC=1;AF=0.5;AN=2;AO=118;CIGAR=1X;DP=247;DPB=247;DPRA=0;EPP=4.18805;EPPR=7.80251;GTI=0;LEN=1;MEANALT=3;MQM=32.0424;MQMR=34.0862;NS=1;NUMALT=1;ODDS=303.157;PAIRED=1;PAIREDR=0.965517;PAO=0;PQA=0;PQR=0;PRO=0;QA=3009;QR=3605;RO=116;RPL=49;RPP=10.3712;RPPR=24.6501;RPR=69;RUN=1;SAF=104;SAP=152.069;SAR=14;SF=0;SRF=107;SRP=182.793;SRR=9;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs376490106;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.281e-06;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2143;dpsi_zscore=-0.715;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.062e-06;gnomAD_exome_AFR=6.54e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-155.87,0,-204.772:247:116:118:3009:3605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47362642 . C T 3746.01 . AB=0.455726;ABP=17.4312;AC=1;AF=0.5;AN=2;AO=386;CIGAR=1X;DP=847;DPB=847;DPRA=0;EPP=8.77089;EPPR=25.8893;GTI=0;LEN=1;MEANALT=3;MQM=29.4534;MQMR=30.3541;NS=1;NUMALT=1;ODDS=862.55;PAIRED=0.875648;PAIREDR=0.900249;PAO=0;PQA=0;PQR=0;PRO=0;QA=8860;QR=12148;RO=401;RPL=276;RPP=158.029;RPPR=98.7988;RPR=110;RUN=1;SAF=161;SAP=26.0527;SAR=225;SF=0;SRF=145;SRP=69.7303;SRR=256;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0150;esp6500siv2_ea=0.0192;esp6500siv2_all=0.0150;esp6500siv2_ea=0.0192;1000g2015aug_all=0.00898562;avsnp147=rs11570086;Kaviar_AF=0.0122508;Kaviar_AC=1894;Kaviar_AN=154602;ExAC_ALL=0.0185;ExAC_AFR=0.0052;ExAC_AMR=0.0133;ExAC_EAS=0;ExAC_FIN=0.0216;ExAC_NFE=0.0272;ExAC_OTH=0.0312;ExAC_SAS=0.0029;CLNALLELEID=186374;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8732;dpsi_zscore=-1.859;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0147;gnomAD_exome_AFR=0.0042;gnomAD_exome_AMR=0.0104;gnomAD_exome_ASJ=0.0177;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0201;gnomAD_exome_NFE=0.0218;gnomAD_exome_OTH=0.0181;gnomAD_exome_SAS=0.0025;gnomAD_genome_ALL=0.0156;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0238;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-401.243,0,-615.023:847:401:386:8860:12148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47364189 . C T 4576.59 . AB=0.401623;ABP=85.8962;AC=1;AF=0.5;AN=2;AO=396;CIGAR=1X;DP=986;DPB=986;DPRA=0;EPP=146.92;EPPR=101.971;GTI=0;LEN=1;MEANALT=3;MQM=29.8207;MQMR=30.0431;NS=1;NUMALT=1;ODDS=1053.8;PAIRED=0.833333;PAIREDR=0.818352;PAO=0;PQA=0;PQR=0;PRO=0;QA=11391;QR=16806;RO=534;RPL=68;RPP=373.696;RPPR=541.796;RPR=328;RUN=1;SAF=259;SAP=84.627;SAR=137;SF=0;SRF=352;SRP=120.53;SRR=182;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon16:c.G1564A:p.A522T;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0008;1000g2015aug_all=0.00179712;avsnp147=rs11570082;Kaviar_AF=0.0004398;Kaviar_AC=68;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0032;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=51715;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.26;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.45;MutationAssessor_pred=N;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=0.092;CADD_phred=3.519;DANN_score=0.784;fathmm-MKL_coding_score=0.246;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.034;MetaSVM_pred=T;MetaLR_score=0.093;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.35;phyloP7way_vertebrate=-0.461;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.425;phastCons20way_mammalian=0.097;SiPhy_29way_logOdds=5.780;GDI_full_10282015=.;dpsi_max_tissue=-0.0326;dpsi_zscore=-0.179;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM057197#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0032;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-532.686,0,-887.381:986:534:396:11391:16806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47364259 . G C 8087.44 . AB=0.457399;ABP=24.1018;AC=1;AF=0.5;AN=2;AO=612;CIGAR=1X;DP=1338;DPB=1338;DPRA=0;EPP=147.789;EPPR=188.419;GTI=0;LEN=1;MEANALT=3;MQM=30.281;MQMR=32.1679;NS=1;NUMALT=1;ODDS=1862.2;PAIRED=0.887255;PAIREDR=0.83926;PAO=0;PQA=0;PQR=0;PRO=0;QA=16831;QR=20981;RO=703;RPL=356;RPP=38.4919;RPPR=113.348;RPR=256;RUN=1;SAF=333;SAP=13.3567;SAR=279;SF=0;SRF=399;SRP=30.8873;SRR=304;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon16:c.C1494G:p.T498T;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397515906;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=6.63e-05;ExAC_AFR=0;ExAC_AMR=8.64e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.002e-05;ExAC_OTH=0;ExAC_SAS=6.064e-05;CLNALLELEID=51709;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1190;dpsi_zscore=-0.504;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.685e-05;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.057e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-837.564,0,-1150.42:1338:703:612:16831:20981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47365199 . G A 1375.31 . AB=0.42616;ABP=14.2342;AC=73;AF=0.5;AN=132;AO=101;CIGAR=1X;DP=16351;DPB=237;DPRA=0;EPP=7.84774;EPPR=14.1779;GTI=0;LEN=1;MEANALT=3;MQM=30.2673;MQMR=27.6607;NS=1;NUMALT=1;ODDS=247.731;PAIRED=0.722772;PAIREDR=0.767857;PAO=0;PQA=0;PQR=0;PRO=0;QA=2694;QR=3209;RO=112;RPL=68;RPP=29.3475;RPPR=82.4241;RPR=33;RUN=1;SAF=10;SAP=144.07;SAR=91;SF=0,1;SRF=20;SRP=103.518;SRR=92;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.2406;esp6500siv2_ea=0.3084;esp6500siv2_all=0.2406;esp6500siv2_ea=0.3084;1000g2015aug_all=0.249601;avsnp147=rs2856650;Kaviar_AF=0.261911;Kaviar_AC=40492;Kaviar_AN=154602;ExAC_ALL=0.3159;ExAC_AFR=0.0926;ExAC_AMR=0.3907;ExAC_EAS=0.3087;ExAC_FIN=0.2819;ExAC_NFE=0.3310;ExAC_OTH=0.3819;ExAC_SAS=0.3369;CLNALLELEID=186392;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0890;dpsi_zscore=0.449;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2975;gnomAD_exome_AFR=0.0830;gnomAD_exome_AMR=0.3695;gnomAD_exome_ASJ=0.3514;gnomAD_exome_EAS=0.2888;gnomAD_exome_FIN=0.2478;gnomAD_exome_NFE=0.3074;gnomAD_exome_OTH=0.3230;gnomAD_exome_SAS=0.2983;gnomAD_genome_ALL=0.2287;gnomAD_genome_AFR=0.0857;gnomAD_genome_AMR=0.3487;gnomAD_genome_ASJ=0.3322;gnomAD_genome_EAS=0.2786;gnomAD_genome_FIN=0.2470;gnomAD_genome_NFE=0.2921;gnomAD_genome_OTH=0.2583;Whole_Blood=Whole_Blood::0.281843::0.16757;Liver=Liver::0.277778::0.204311;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-133.439,0,-149.795:237:112:101:2694:3209 0/1:-112.755,0,-176.62:227:121:85:2432:3445 0/1:-97.777,0,-116.804:151:69:63:1867:2120 . 0/1:-183.923,0,-237.97:290:147:121:3704:4398 0/1:-93.6569,0,-148.033:181:95:73:2063:2589 . . 0/1:-177.405,0,-183.208:254:123:116:3499:3627 . 0/1:-135.869,0,-152.52:222:101:93:2831:3035 1/1:-359.914,-34.6347,0:237:17:184:5475:344 . 0/1:-104.616,0,-172.981:184:100:65:1984:2988 . . 1/1:-934.371,-98.2934,0:579:38:465:13690:730 0/1:-140.044,0,-226.14:270:141:107:3094:4094 0/1:-68.258,0,-110.75:144:80:55:1526:2347 0/1:-106.543,0,-109.833:159:77:70:2078:2139 0/1:-120.58,0,-246.097:290:162:106:2891:4604 0/1:-69.8162,0,-102.253:131:65:54:1573:1861 0/1:-160.088,0,-281.72:322:170:121:3648:4936 . . . 0/1:-109.762,0,-196.42:220:117:83:2449:3629 0/1:-68.8646,0,-98.8466:138:71:55:1491:1942 . . 0/1:-166.146,0,-243.366:317:162:125:3462:4626 0/1:-149.141,0,-211.06:294:155:120:3427:4387 . . 0/1:-170.506,0,-221.015:290:141:119:3383:4082 0/1:-148.755,0,-251.658:296:157:110:3206:4643 0/1:-142.939,0,-142.334:201:95:90:2643:2645 . . 0/1:-168.467,0,-215.979:274:133:110:3227:3888 0/1:-100.929,0,-163.185:208:116:78:2442:3230 . . . 1/1:-439.476,-54.4697,0:270:11:222:6400:226 . 0/1:-100.382,0,-153.497:185:106:70:2064:2979 . 0/1:-149.341,0,-248.415:280:154:105:3068:4595 0/1:-152.082,0,-257.586:297:154:121:3376:4693 . 1/1:-389.273,-34.7702,0:287:27:223:6467:523 0/1:-173.891,0,-275.716:318:165:120:3558:4849 0/1:-96.0037,0,-61.9498:120:44:63:1858:1348 0/1:-72.6172,0,-195.533:202:117:67:1824:3448 0/1:-182.337,0,-241.743:311:157:126:3828:4498 . 0/1:-121.257,0,-133.205:202:94:93:2580:2673 . . 0/1:-164.705,0,-249.463:321:163:132:3969:4918 0/1:-115.762,0,-189.109:236:123:90:2604:3556 0/1:-62.7246,0,-131.556:146:80:56:1570:2303 . . 0/1:-63.211,0,-85.0232:108:53:47:1387:1617 . 0/1:-120.993,0,-184.941:243:119:99:2771:3341 0/1:-109.732,0,-195.998:261:132:96:2704:3767 0/1:-167.245,0,-152.423:239:114:104:3180:3184 . 0/1:-142.203,0,-249.618:312:171:118:3403:4849 . 1/1:-335.947,-34.0276,0:220:12:171:5045:289 . 0/1:-150.936,0,-206.213:268:136:110:3133:3932 . . . . 0/1:-120.752,0,-223.106:284:150:102:2910:4301 0/1:-133.809,0,-177.405:253:126:98:2746:3669 . 0/1:-119.276,0,-155.786:202:101:83:2445:2926 0/1:-138.178,0,-139.953:216:95:96:2844:2869 . 0/1:-97.7041,0,-200.837:250:134:90:2479:3903 . 0/1:-110.636,0,-212.803:229:128:84:2489:3737 1/1:-482.322,-58.0073,0:303:16:247:7217:351 0/1:-112.567,0,-203.107:231:120:88:2627:3443 1/1:-464.113,-51.7916,0:297:20:239:6937:320 0/1:-142.064,0,-171.395:250:118:108:3030:3304 0/1:-156.154,0,-196.178:278:133:113:3368:3823 . . 0/1:-214.055,0,-273.949:264:132:111:3450:4169:132,111 0/1:-288.911,0,-316.604:325:163:145:4540:5120:163,145 0/1:-142.479,0,-153.758:158:75:72:2228:2327:75,72 0/1:-147.535,0,-250.839:222:121:83:2579:3682:121,83 . 0/1:-256.049,0,-249.799:263:124:126:4000:3910:124,126 0/1:-187.683,0,-430.514:334:202:113:3400:6171:202,113 0/1:-174.086,0,-294.96:244:138:94:2993:4315:138,94 . 0/1:-252.381,0,-337.569:308:165:131:4135:5084:165,131 . 0/1:-191.526,0,-256.25:233:122:96:3048:3830:122,96 . . . 0/1:-217.744,0,-274.661:265:136:116:3476:4223:136,116 . . . chr11 47367871 . C T 8184.25 . AB=0.435811;ABP=45.3834;AC=2;AF=0.5;AN=4;AO=516;CIGAR=1X;DP=2701;DPB=1184;DPRA=0;EPP=27.3173;EPPR=3.51792;GTI=0;LEN=1;MEANALT=3;MQM=32.4864;MQMR=32.1672;NS=1;NUMALT=1;ODDS=1636.55;PAIRED=0.891473;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=14062;QR=18242;RO=616;RPL=260;RPP=3.07763;RPPR=8.10057;RPR=256;RUN=1;SAF=254;SAP=3.27963;SAR=262;SF=0;SRF=275;SRP=18.3657;SRR=341;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon12:c.G977A:p.R326Q;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0038;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0038;1000g2015aug_all=0.000798722;avsnp147=rs34580776;Kaviar_AF=0.0039068;Kaviar_AC=604;Kaviar_AN=154602;ExAC_ALL=0.0055;ExAC_AFR=0.0004;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0.0155;ExAC_NFE=0.0078;ExAC_OTH=0.0029;ExAC_SAS=0.0009;CLNALLELEID=51983;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.785;MutationTaster_pred=D;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_pred=N;VEST3_score=0.192;CADD_raw=4.274;CADD_phred=24.0;DANN_score=0.999;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.782;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_pred=T;integrated_fitCons_score=0.570;integrated_confidence_value=0;GERP++_RS=4.7;phyloP7way_vertebrate=0.853;phyloP20way_mammalian=0.934;phastCons7way_vertebrate=0.297;phastCons20way_mammalian=0.841;SiPhy_29way_logOdds=11.343;GDI_full_10282015=.;dpsi_max_tissue=-2.0750;dpsi_zscore=-1.925;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM020155#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0041;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0133;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0041;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0066;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0093;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-723.122,0,-1005.79:1184:616:516:14062:18242 . . . . . . . . . . . . 0/1:-942.478,0,-1423.31:1517:798:648:17268:23395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47368153 . G T 554.33 . AB=0.466667;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=35;CIGAR=1X;DP=75;DPB=75;DPRA=0;EPP=30.3709;EPPR=49.8362;GTI=0;LEN=1;MEANALT=2;MQM=37.6857;MQMR=37.4872;NS=1;NUMALT=1;ODDS=127.64;PAIRED=0.714286;PAIREDR=0.769231;PAO=0;PQA=0;PQR=0;PRO=0;QA=1107;QR=1178;RO=39;RPL=28;RPP=30.3709;RPPR=63.6445;RPR=7;RUN=1;SAF=14;SAP=6.05036;SAR=21;SF=1;SRF=8;SRP=32.4644;SRR=31;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0242;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0242;1000g2015aug_all=0.00838658;avsnp147=rs3729991;Kaviar_AF=0.0174771;Kaviar_AC=2702;Kaviar_AN=154602;ExAC_ALL=0.0189;ExAC_AFR=0.0053;ExAC_AMR=0.0059;ExAC_EAS=0;ExAC_FIN=0.0317;ExAC_NFE=0.0257;ExAC_OTH=0.0076;ExAC_SAS=0.0115;CLNALLELEID=186395;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1243;dpsi_zscore=-1.542;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0177;gnomAD_exome_AFR=0.0045;gnomAD_exome_AMR=0.0069;gnomAD_exome_ASJ=0.0044;gnomAD_exome_EAS=6.236e-05;gnomAD_exome_FIN=0.0328;gnomAD_exome_NFE=0.0255;gnomAD_exome_OTH=0.0149;gnomAD_exome_SAS=0.0094;gnomAD_genome_ALL=0.0184;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0333;gnomAD_genome_NFE=0.0248;gnomAD_genome_OTH=0.0258;Whole_Blood=Whole_Blood::0.0271003::0.465576;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-67.1011,0,-76.3667:75:39:35:1107:1178:39,35 chr11 47369312 . C T 1739.72 . AB=0.358065;ABP=111.5;AC=1;AF=0.5;AN=2;AO=222;CIGAR=1X;DP=620;DPB=620;DPRA=0;EPP=7.7445;EPPR=51.7376;GTI=0;LEN=1;MEANALT=3;MQM=23.4324;MQMR=22.0879;NS=1;NUMALT=1;ODDS=400.586;PAIRED=0.873874;PAIREDR=0.781759;PAO=0;PQA=0;PQR=0;PRO=0;QA=5360;QR=8699;RO=307;RPL=82;RPP=35.915;RPPR=8.95886;RPR=140;RUN=1;SAF=92;SAP=17.1347;SAR=130;SF=0;SRF=119;SRP=36.6858;SRR=188;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.3392;dpsi_zscore=-1.645;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-189.419,0,-326.59:620:307:222:5360:8699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47369443 . G A 4495.60 . AB=0.447099;ABP=24.3767;AC=31;AF=0.5;AN=58;AO=393;CIGAR=1X;DP=22732;DPB=879;DPRA=0;EPP=6.46366;EPPR=7.09578;GTI=0;LEN=1;MEANALT=3;MQM=24.9873;MQMR=23.877;NS=1;NUMALT=1;ODDS=931.544;PAIRED=0.765903;PAIREDR=0.785235;PAO=0;PQA=0;PQR=0;PRO=0;QA=10774;QR=13117;RO=447;RPL=242;RPP=48.7659;RPPR=39.7796;RPR=151;RUN=1;SAF=203;SAP=3.94409;SAR=190;SF=0,1;SRF=218;SRP=3.5981;SRR=229;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon7:c.C786T:p.T262T;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0933;esp6500siv2_ea=0.1184;esp6500siv2_all=0.0933;esp6500siv2_ea=0.1184;1000g2015aug_all=0.0611022;avsnp147=rs11570058;Kaviar_AF=0.0725993;Kaviar_AC=11224;Kaviar_AN=154602;ExAC_ALL=0.1542;ExAC_AFR=0.0737;ExAC_AMR=0.1264;ExAC_EAS=0.0410;ExAC_FIN=0.3043;ExAC_NFE=0.2120;ExAC_OTH=0.1164;ExAC_SAS=0.0824;CLNALLELEID=51963;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0655;dpsi_zscore=-0.330;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0901;gnomAD_exome_AFR=0.0422;gnomAD_exome_AMR=0.0453;gnomAD_exome_ASJ=0.0931;gnomAD_exome_EAS=0.0160;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1256;gnomAD_exome_OTH=0.1013;gnomAD_exome_SAS=0.0665;gnomAD_genome_ALL=0.0890;gnomAD_genome_AFR=0.0402;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.0192;gnomAD_genome_FIN=0.1229;gnomAD_genome_NFE=0.1173;gnomAD_genome_OTH=0.1207;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-418.108,0,-530.098:879:447:393:10774:13117 . . . . . . . . 0/1:-283.649,0,-477.138:635:344:259:7132:10319 . . . . . . . . . . . . . . 0/1:-227.299,0,-403.244:561:294:236:6407:8825 . 0/1:-400.14,0,-369.775:658:306:322:8788:9172 . 0/1:-205.107,0,-444.572:613:328:247:6525:10118 . 0/1:-442.629,0,-630.562:974:492:432:11151:15133 0/1:-301.167,0,-635.991:797:444:316:8337:13247 0/1:-452.956,0,-611.648:942:463:419:10852:13671 . . 0/1:-542.895,0,-664.984:1034:508:472:12790:15300 . . . . 0/1:-350.369,0,-596.485:837:448:342:9479:13777 0/1:-422.301,0,-556.382:825:416:377:10650:12776 1/1:-1014.66,-161.835,0:688:14:598:16203:375 0/1:-472.027,0,-533.163:912:444:410:11171:13656 . . 0/1:-217.413,0,-339.516:459:238:205:5440:7326 0/1:-275.751,0,-409.345:618:309:271:7234:9436 . . . . . . . 0/1:-397.318,0,-541.7:850:411:387:10388:12399 . . . 0/1:-243.326,0,-293.657:542:263:249:6817:7809 . 0/1:-381.667,0,-457.473:721:339:341:9029:10081 . . . . . . . 0/1:-292.097,0,-545.3:780:418:324:8535:12684 . . . . . 0/1:-390.463,0,-562.729:871:437:388:10538:13452 . . . . . . . . . . 0/1:-353.731,0,-646.636:864:459:361:9628:14168 0/1:-236.555,0,-347.706:476:255:197:5447:7774 0/1:-268.049,0,-418.973:644:325:270:7281:9801 . . . . . . 0/1:-728.979,0,-795.375:922:433:441:12720:13642:433,441 . 0/1:-724.279,0,-1055.39:1027:546:440:12966:16920:546,440 . . . . . . . 0/1:-836.703,0,-940.143:1061:512:505:14687:15775:512,505 . . 0/1:-548.171,0,-753.704:822:422:359:10556:12786:422,359 . 1/1:-1976.04,-250.276,0:929:4:862:25342:118:4,862 . 0/1:-560.662,0,-817.963:791:422:337:10050:13202:422,337 . . chr11 47370041 . T C 12544.42 . AB=0.481576;ABP=7.65124;AC=31;AF=0.5;AN=58;AO=758;CIGAR=1X;DP=40466;DPB=1574;DPRA=0;EPP=45.6491;EPPR=14.4864;GTI=0;LEN=1;MEANALT=3;MQM=33.1332;MQMR=35.1332;NS=1;NUMALT=1;ODDS=2784.06;PAIRED=0.875989;PAIREDR=0.892144;PAO=0;PQA=0;PQR=0;PRO=0;QA=21450;QR=22248;RO=751;RPL=438;RPP=42.8989;RPPR=55.7068;RPR=320;RUN=1;SAF=358;SAP=8.0637;SAR=400;SF=0,1;SRF=337;SRP=20.1537;SRR=414;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon6:c.A706G:p.S236G;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.1034;esp6500siv2_ea=0.1263;esp6500siv2_all=0.1034;esp6500siv2_ea=0.1263;1000g2015aug_all=0.0670927;avsnp147=rs3729989;Kaviar_AF=0.100898;Kaviar_AC=15599;Kaviar_AN=154602;ExAC_ALL=0.1079;ExAC_AFR=0.0621;ExAC_AMR=0.0481;ExAC_EAS=0.0308;ExAC_FIN=0.1390;ExAC_NFE=0.1393;ExAC_OTH=0.1052;ExAC_SAS=0.0753;CLNALLELEID=51956;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.655;MutationAssessor_pred=N;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_pred=N;VEST3_score=0.048;CADD_raw=0.243;CADD_phred=5.127;DANN_score=0.220;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=5.12;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.420;phastCons7way_vertebrate=0.719;phastCons20way_mammalian=0.448;SiPhy_29way_logOdds=13.832;GDI_full_10282015=.;dpsi_max_tissue=0.4928;dpsi_zscore=1.125;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM043536#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0969;gnomAD_exome_AFR=0.0539;gnomAD_exome_AMR=0.0459;gnomAD_exome_ASJ=0.1067;gnomAD_exome_EAS=0.0293;gnomAD_exome_FIN=0.1203;gnomAD_exome_NFE=0.1305;gnomAD_exome_OTH=0.1105;gnomAD_exome_SAS=0.0680;gnomAD_genome_ALL=0.0957;gnomAD_genome_AFR=0.0535;gnomAD_genome_AMR=0.0513;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0.0321;gnomAD_genome_FIN=0.1262;gnomAD_genome_NFE=0.1209;gnomAD_genome_OTH=0.1235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1226.19,0,-1303.79:1574:751:758:21450:22248 . . . . . . . . 0/1:-840.236,0,-945.466:1125:539:548:15469:16543 . . . . . . . . . . . . . . 0/1:-830.66,0,-803.661:1099:506:540:15187:15113 . 0/1:-1098.48,0,-975.927:1249:570:634:18269:16723 . 0/1:-785.9,0,-1001.94:1130:572:504:14400:16620 . . 0/1:-1188.58,0,-1441.33:1577:797:726:21065:23519 0/1:-1204.45,0,-1197.34:1498:703:732:20592:20606 . . 0/1:-1387.5,0,-1385.31:1683:780:843:24095:23170 . . . . 0/1:-1172.02,0,-1200.87:1496:716:727:20491:20979 0/1:-1011.55,0,-1435.8:1461:768:646:18097:23393 1/1:-3016.6,-387.147,0:1400:13:1366:38708:358 0/1:-1418.65,0,-1283.51:1628:750:827:23902:22420 . . 0/1:-561.884,0,-613.438:720:343:349:9809:10496 0/1:-878.439,0,-927.873:1095:523:530:14959:15560 . . 0/1:-905.978,0,-988.055:1244:595:602:16555:17632 . . . . 0/1:-1210.55,0,-1392.64:1548:752:744:20969:22824 . . . 0/1:-646.73,0,-798.476:900:458:413:11709:13489 . 0/1:-1097,0,-1030.15:1309:596:659:18737:17646 . . . . . . . 0/1:-1091.49,0,-1235.55:1460:714:679:19393:21165 . . . . . 0/1:-1192.97,0,-1348.33:1574:770:735:20953:22641 . . . . . . . . . . 0/1:-1197.45,0,-1340.33:1556:760:731:20898:22708 0/1:-668.779,0,-638.053:790:363:400:11396:11034 0/1:-892.566,0,-1067.43:1209:601:555:15947:17968 . . . . . . 0/1:-1677.1,0,-2009.73:1851:959:861:25885:29929:959,861 . 0/1:-1722.71,0,-1793.17:1745:864:842:25926:26937:864,842 . . . . . . . 0/1:-2015.23,0,-1775.47:1893:866:990:30327:27253:866,990 . . 0/1:-1565.75,0,-1562.76:1576:764:778:23961:23832:764,778 . 1/1:-4005.25,-424.97,0:1612:21:1571:48249:642:21,1571 . 0/1:-1373.56,0,-1561.1:1464:745:693:21266:23500:745,693 . . chr11 47371414 . C T 10364.33 . AB=0.429227;ABP=135.792;AC=5;AF=0.5;AN=10;AO=1310;CIGAR=1X;DP=9388;DPB=3052;DPRA=0;EPP=183.524;EPPR=266.237;GTI=0;LEN=1;MEANALT=3;MQM=30.2656;MQMR=30.706;NS=1;NUMALT=1;ODDS=3456.92;PAIRED=0.916031;PAIREDR=0.922486;PAO=0;PQA=0;PQR=0;PRO=0;QA=32238;QR=45552;RO=1561;RPL=688;RPP=10.2309;RPPR=4.34713;RPR=622;RUN=1;SAF=754;SAP=67.9953;SAR=556;SF=0,1;SRF=873;SRP=50.6199;SRR=688;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.G565A:p.V189I;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0034;1000g2015aug_all=0.00199681;avsnp147=rs11570052;Kaviar_AF=0.0024191;Kaviar_AC=374;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0004;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0007;ExAC_NFE=0.0034;ExAC_OTH=0.0040;ExAC_SAS=0.0043;CLNALLELEID=45276;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.399;SIFT_pred=T;Polyphen2_HDIV_score=0.199;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.366;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.175;MutationAssessor_pred=L;FATHMM_score=-0.64;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_pred=N;VEST3_score=0.071;CADD_raw=2.583;CADD_phred=20.0;DANN_score=0.995;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.782;MetaSVM_pred=T;MetaLR_score=0.271;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=4.8;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.654;SiPhy_29way_logOdds=11.703;GDI_full_10282015=.;dpsi_max_tissue=0.0389;dpsi_zscore=0.245;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM169151#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0043;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0033;gnomAD_exome_OTH=0.0043;gnomAD_exome_SAS=0.0040;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-1540.36,0,-2441.2:3052:1561:1310:32238:45552 . . . . . . . . . . . . . . 0/1:-756.227,0,-1339.17:1603:823:676:16529:23852 . . . . . . . . . . . . . . . . . . . . . . 0/1:-608.763,0,-946.845:1132:566:500:12288:17062 . . . . . 0/1:-910.632,0,-1392.62:1791:894:785:18901:26332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1592.24,0,-1917.74:1810:917:859:25228:28571:917,859 . . . . . . . . . . . . . . . . . . . chr11 47371442 . G A 13840.45 . AB=0.480727;ABP=8.86945;AC=2;AF=0.5;AN=4;AO=873;CIGAR=1X;DP=3048;DPB=1816;DPRA=0;EPP=138.047;EPPR=79.2863;GTI=0;LEN=1;MEANALT=3;MQM=38.2715;MQMR=38.8736;NS=1;NUMALT=1;ODDS=3640.42;PAIRED=0.946163;PAIREDR=0.95898;PAO=0;PQA=0;PQR=0;PRO=0;QA=25612;QR=28723;RO=902;RPL=444;RPP=3.56996;RPPR=14.1421;RPR=429;RUN=1;SAF=422;SAP=5.10218;SAR=451;SF=1;SRF=435;SRP=5.47547;SRR=467;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.C537T:p.A179A;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0463;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0463;1000g2015aug_all=0.0249601;avsnp147=rs11570051;Kaviar_AF=0.0392039;Kaviar_AC=6061;Kaviar_AN=154602;ExAC_ALL=0.0455;ExAC_AFR=0.0100;ExAC_AMR=0.0920;ExAC_EAS=0.0026;ExAC_FIN=0.0657;ExAC_NFE=0.0501;ExAC_OTH=0.0464;ExAC_SAS=0.0284;CLNALLELEID=51938;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0442;dpsi_zscore=-0.238;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0451;gnomAD_exome_AFR=0.0092;gnomAD_exome_AMR=0.0833;gnomAD_exome_ASJ=0.0508;gnomAD_exome_EAS=0.0017;gnomAD_exome_FIN=0.0529;gnomAD_exome_NFE=0.0478;gnomAD_exome_OTH=0.0443;gnomAD_exome_SAS=0.0273;gnomAD_genome_ALL=0.0351;gnomAD_genome_AFR=0.0087;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.0501;gnomAD_genome_NFE=0.0470;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1603.46,0,-1873.63:1816:902:873:25612:28723:902,873 . . 0/1:-1203.04,0,-1192.86:1232:581:618:18417:18415:581,618 . . chr11 47371484 . AGGGGCGA AGGGCGA 11358.17 . AB=0;ABP=0;AC=171;AF=1;AN=212;AO=678;CIGAR=1M1D1M;DP=113506;DPB=596;DPRA=0;EPP=3.02311;EPPR=97.7145;GTI=0;LEN=1;MEANALT=19;MQM=28.6283;MQMR=34.5323;NS=1;NUMALT=1;ODDS=664.333;PAIRED=0.932153;PAIREDR=0.983871;PAO=9.5;PQA=210.5;PQR=231.5;PRO=10.5;QA=16850;QR=1413;RO=62;RPL=439;RPP=131.121;RPPR=120.83;RPR=239;RUN=1;SAF=197;SAP=261.332;SAR=481;SF=0,1;SRF=57;SRP=97.7145;SRR=5;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.6200;esp6500siv2_ea=0.7248;esp6500siv2_all=0.6200;esp6500siv2_ea=0.7248;1000g2015aug_all=0.610823;avsnp147=rs11570050;Kaviar_AF=0.0186738;Kaviar_AC=2887;Kaviar_AN=154602;ExAC_ALL=0.6879;ExAC_AFR=0.4267;ExAC_AMR=0.6011;ExAC_EAS=0.6438;ExAC_FIN=0.6219;ExAC_NFE=0.7343;ExAC_OTH=0.7273;ExAC_SAS=0.7157;CLNALLELEID=51933;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6648;gnomAD_exome_AFR=0.3783;gnomAD_exome_AMR=0.5953;gnomAD_exome_ASJ=0.7276;gnomAD_exome_EAS=0.6287;gnomAD_exome_FIN=0.6150;gnomAD_exome_NFE=0.7173;gnomAD_exome_OTH=0.7050;gnomAD_exome_SAS=0.7144;gnomAD_genome_ALL=0.6108;gnomAD_genome_AFR=0.3940;gnomAD_genome_AMR=0.6396;gnomAD_genome_ASJ=0.7450;gnomAD_genome_EAS=0.6646;gnomAD_genome_FIN=0.6201;gnomAD_genome_NFE=0.7226;gnomAD_genome_OTH=0.6398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:816:62:678:16850:1413 0/1:.,.,-1036.95:1285:656:472:11796:18618 1/1:.,.,0:992:90:834:20899:1946 1/1:.,.,0:694:70:574:14233:1538 1/1:.,.,0:997:83:845:21129:1743 1/1:.,.,0:1326:108:1107:28271:2355 . 0/1:.,.,-873.122:1256:587:529:13278:16462 1/1:.,.,0:1036:85:875:22559:1906 0/1:.,.,-831.323:1168:561:448:11408:15710 . 1/1:.,.,0:973:71:827:20790:1547 1/1:.,.,0:984:86:823:20368:1908 1/1:.,.,0:907:65:761:18567:1337 0/1:.,.,-552.894:815:376:340:8684:10528 0/1:.,.,-1221.29:1598:786:632:15899:22544 0/1:.,.,-692.512:921:438:367:9181:12430 1/1:.,.,0:2217:159:1864:46509:3315 1/1:.,.,0:879:74:751:18898:1615 0/1:.,.,-623.75:820:420:299:6989:11729 1/1:.,.,0:752:54:646:16060:1169 1/1:.,.,0:1164:86:988:24552:1939 1/1:.,.,0:652:47:542:13045:1078 0/1:.,.,-980.305:1383:643:586:14757:18113 1/1:.,.,0:1091:79:923:22844:1751 0/1:.,.,-581.715:921:417:388:9506:11632 1/1:.,.,0:1019:64:877:21633:1397 0/1:.,.,-722.762:967:468:401:10312:13378 1/1:.,.,0:885:70:734:18022:1602 0/1:.,.,-653.461:887:415:358:9101:11646 1/1:.,.,0:692:55:586:14729:1230 1/1:.,.,0:1213:90:1024:26113:2167 0/1:.,.,-850.067:1170:543:459:11606:15596 0/1:.,.,-850.939:1234:576:494:11739:16446 1/1:.,.,0:1032:74:880:22099:1686 1/1:.,.,0:1108:84:932:23138:1812 0/1:.,.,-1089.58:1404:695:551:13407:19968 1/1:.,.,0:899:58:764:18868:1231 0/1:.,.,-768.731:1102:526:429:10320:14610 0/1:.,.,-587.863:811:379:325:8005:10749 1/1:.,.,0:1117:89:914:22319:1913 0/1:.,.,-748.556:1117:506:454:11334:14292 0/1:.,.,-917.739:1139:563:438:11255:16252 . 0/1:.,.,-894.446:1246:600:503:13185:17107 1/1:.,.,0:1134:80:965:23442:1709 1/1:.,.,0:1038:95:876:22114:1995 0/1:.,.,-478.874:691:312:307:7731:8879 0/1:.,.,-636.293:816:402:328:7982:11587 1/1:.,.,0:1192:91:1010:25472:1908 1/1:.,.,0:1191:89:966:24288:1937 . 1/1:.,.,0:1273:90:1075:26580:1929 1/1:.,.,0:1383:114:1168:28859:2497 1/1:.,.,0:770:50:665:16455:1202 1/1:.,.,0:833:72:707:17849:1561 0/1:.,.,-880.369:1261:565:513:12434:15994 1/1:.,.,0:675:53:562:13870:1154 1/1:.,.,0:815:53:684:16816:1280 1/1:.,.,0:1123:96:939:23326:2125 0/1:.,.,-508.238:789:345:340:8391:9673 1/1:.,.,0:1250:87:1069:26855:1862 0/1:.,.,-726.732:995:474:402:10202:13368 1/1:.,.,0:752:80:605:15020:1793 0/1:.,.,-1097.11:1322:692:443:11216:19466 1/1:.,.,0:1123:74:980:24700:1549 1/1:.,.,0:572:38:487:12171:819 1/1:.,.,0:965:68:832:20914:1519 1/1:.,.,0:991:55:856:21383:1174 1/1:.,.,0:1165:105:969:24269:2229 0/1:.,.,-739.615:1087:505:460:11196:14196 1/1:.,.,0:1310:103:1134:28534:2335 1/1:.,.,0:1208:97:1028:25973:2062 1/1:.,.,0:656:56:526:12540:1242 1/1:.,.,0:903:64:774:18985:1416 0/1:.,.,-967.726:1315:632:520:13141:17874 0/1:.,.,-849.106:1279:573:530:13131:16239 0/1:.,.,-903.149:1325:608:558:14037:17213 1/1:.,.,0:715:48:615:15401:1064 0/1:.,.,-480.486:627:301:261:7018:8602 1/1:.,.,0:1121:73:948:23570:1578 1/1:.,.,0:1094:77:916:22558:1642 1/1:.,.,0:1183:77:994:25001:1701 0/1:.,.,-805.434:1077:526:402:9559:15121 1/1:.,.,0:931:78:774:18941:1678 1/1:.,.,0:1012:88:843:21378:1926 . 0/1:.,.,-738.604:1139:490:505:12542:14038 . 0/1:.,.,-646.079:1014:454:427:10638:12668 1/1:.,.,0:1315:126:1081:26844:2824 1/1:.,.,0:955:85:789:19593:1868 1/1:.,.,0:1279:90:1105:27613:1937 1/1:.,.,0:1247:96:1035:25731:2172 1/1:.,.,0:1205:68:1040:25319:1430 . 0/1:-957.598,0,-1339.52:1376:662:596:15431:20640:662,596 0/1:-892.207,0,-1174.32:1234:583:546:14253:18159:583,546 0/1:-921.549,0,-1268.55:1318:618:577:14799:19496:618,577 1/1:-1607.65,-203.154,0:804:8:719:18659:247:8,719 0/1:-869.807,0,-969.296:1128:492:514:13475:15234:492,514 1/1:-2485.58,-334.911,0:1183:1:1085:28588:32:1,1085 1/1:-2346.57,-312.121,0:1142:6:1048:27123:180:6,1048 1/1:-2557.93,-336.629,0:1247:8:1144:29549:236:8,1144 1/1:-2330.43,-305.173,0:1097:5:1013:26856:168:5,1013 1/1:-2647.37,-342.082,0:1324:12:1195:30731:365:12,1195 0/1:-1093.32,0,-1198.63:1325:588:622:16729:18468:588,622 1/1:-1917.66,-254.299,0:899:1:834:22020:35:1,834 1/1:-2254.7,-306.137,0:1106:1:990:25856:27:1,990 0/1:-784.489,0,-991.47:1060:485:479:12388:15223:485,479 . . 0/1:-897.831,0,-1007.55:1158:505:545:14052:15799:505,545 . 1/1:-1917.4,-259.417,0:942:1:857:22030:35:1,857 0/1:-1005.47,0,-1257.33:1358:615:610:15822:19468:615,610 chr11 47371578 . G A 6087.85 . AB=0.440262;ABP=21.9494;AC=5;AF=0.5;AN=10;AO=269;CIGAR=1X;DP=5218;DPB=611;DPRA=0;EPP=117.323;EPPR=57.2551;GTI=0;LEN=1;MEANALT=3;MQM=30.0037;MQMR=33.029;NS=1;NUMALT=1;ODDS=719.699;PAIRED=0.873606;PAIREDR=0.858065;PAO=0;PQA=0;PQR=0;PRO=0;QA=7006;QR=9625;RO=310;RPL=99;RPP=43.7032;RPPR=21.9511;RPR=170;RUN=1;SAF=115;SAP=15.2884;SAR=154;SF=0;SRF=126;SRP=26.5743;SRR=184;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon4:c.C492T:p.G164G;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0224;esp6500siv2_ea=0.0307;esp6500siv2_all=0.0224;esp6500siv2_ea=0.0307;1000g2015aug_all=0.00838658;avsnp147=rs3218719;Kaviar_AF=0.015168;Kaviar_AC=2345;Kaviar_AN=154602;ExAC_ALL=0.0288;ExAC_AFR=0.0067;ExAC_AMR=0.0467;ExAC_EAS=0.0011;ExAC_FIN=0.0545;ExAC_NFE=0.0487;ExAC_OTH=0.0092;ExAC_SAS=0.0070;CLNALLELEID=51930;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2801;dpsi_zscore=-0.823;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0206;gnomAD_exome_AFR=0.0051;gnomAD_exome_AMR=0.0141;gnomAD_exome_ASJ=0.0340;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0226;gnomAD_exome_NFE=0.0318;gnomAD_exome_OTH=0.0197;gnomAD_exome_SAS=0.0052;gnomAD_genome_ALL=0.0207;gnomAD_genome_AFR=0.0053;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.0302;gnomAD_genome_OTH=0.0276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-337.73,0,-551.671:611:310:269:7006:9625 . . . . . . . . . . . . . 0/1:-1365.05,0,-1761.47:2169:1056:978:26802:32714 . . . . . . . . . . 0/1:-427.822,0,-649.436:746:385:330:9334:12015 . . . . . . . . . . . . . . . . . . 0/1:-327.667,0,-452.597:534:268:234:6499:8250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-790.867,0,-808.838:1158:518:574:15760:15890 . . . . . . . . . . . . . . . . . . . . . chr11 47371598 . C T 7686.92 . AB=0.462541;ABP=10.4937;AC=11;AF=0.5;AN=22;AO=284;CIGAR=1X;DP=12437;DPB=614;DPRA=0;EPP=70.5706;EPPR=102.469;GTI=0;LEN=1;MEANALT=3;MQM=33.4366;MQMR=31.6809;NS=1;NUMALT=1;ODDS=997.909;PAIRED=0.848592;PAIREDR=0.848684;PAO=0;PQA=0;PQR=0;PRO=0;QA=8162;QR=9562;RO=304;RPL=111;RPP=32.4016;RPPR=74.4403;RPR=173;RUN=1;SAF=116;SAP=23.6852;SAR=168;SF=0,1;SRF=137;SRP=9.439;SRR=167;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon4:c.G472A:p.V158M;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0637;esp6500siv2_ea=0.0864;esp6500siv2_all=0.0637;esp6500siv2_ea=0.0864;1000g2015aug_all=0.0329473;avsnp147=rs3729986;Kaviar_AF=0.0469787;Kaviar_AC=7263;Kaviar_AN=154602;ExAC_ALL=0.0904;ExAC_AFR=0.0192;ExAC_AMR=0.0833;ExAC_EAS=0;ExAC_FIN=0.1634;ExAC_NFE=0.1402;ExAC_OTH=0.0875;ExAC_SAS=0.0372;CLNALLELEID=51928;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.816;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.45;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.853;MutationTaster_pred=N;MutationAssessor_score=1.795;MutationAssessor_pred=L;FATHMM_score=-0.56;FATHMM_pred=T;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.075;CADD_raw=4.662;CADD_phred=24.5;DANN_score=0.996;fathmm-MKL_coding_score=0.789;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.023;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=1.52;phyloP7way_vertebrate=-0.299;phyloP20way_mammalian=-0.437;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.954;SiPhy_29way_logOdds=13.427;GDI_full_10282015=.;dpsi_max_tissue=0.0798;dpsi_zscore=0.417;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0652;gnomAD_exome_AFR=0.0128;gnomAD_exome_AMR=0.0389;gnomAD_exome_ASJ=0.0739;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1003;gnomAD_exome_NFE=0.0933;gnomAD_exome_OTH=0.0721;gnomAD_exome_SAS=0.0341;gnomAD_genome_ALL=0.0702;gnomAD_genome_AFR=0.0196;gnomAD_genome_AMR=0.0516;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1005;gnomAD_genome_NFE=0.1009;gnomAD_genome_OTH=0.0723;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-452.876,0,-522.055:614:304:284:8162:9562 0/1:-725.936,0,-930.905:1052:541:489:14244:16771 . . . . . . . . . . . . . . . . 0/1:-770.704,0,-1079.64:1209:622:542:15275:19131 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-722.791,0,-830.189:1064:514:520:14816:15648 . 0/1:-467.582,0,-828.08:852:472:353:10061:14197 . . . . . . . . . . . . . . . . . . . . . . 0/1:-996.253,0,-1207.4:1394:703:648:19090:21482 . . . 0/1:-891.219,0,-1107.99:1319:653:631:17894:20283 . . . . . . 0/1:-777.566,0,-1124.25:1254:660:560:15822:20063 . . . . . . . . . . 0/1:-832.469,0,-1080.81:1273:652:589:16779:19755 . . . . . . . . 0/1:-1186.66,0,-1336.67:1369:682:645:19121:21177:682,645 . . . . 0/1:-993.21,0,-993.078:1037:494:518:15640:15459:494,518 . . . . . . . . chr11 47372090 . T G 52.85 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=7.35324;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=5.5;NS=1;NUMALT=1;ODDS=8.72875;PAIRED=1;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=68;QR=64;RO=2;RPL=1;RPP=3.0103;RPPR=3.0103;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon3:c.A369C:p.P123P;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1537;dpsi_zscore=0.625;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 1/1:-5.2849,-0.160759,0:4:2:2:68:64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47372197 . A C 23.91 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=4;CIGAR=1X;DP=8;DPB=8;DPRA=0;EPP=3.0103;EPPR=11.6962;GTI=0;LEN=1;MEANALT=1;MQM=40.5;MQMR=19;NS=1;NUMALT=1;ODDS=5.50067;PAIRED=1;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=60;QR=100;RO=4;RPL=2;RPP=3.0103;RPPR=11.6962;RPR=2;RUN=1;SAF=2;SAP=3.0103;SAR=2;SF=0;SRF=0;SRP=11.6962;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1446;dpsi_zscore=-0.569;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-3.13673,0,-3.08227:8:4:4:60:100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 47372887 . C T 15104.10 . AB=0.460808;ABP=31.095;AC=1;AF=0.5;AN=2;AO=970;CIGAR=1X;DP=2105;DPB=2105;DPRA=0;EPP=16.6301;EPPR=4.38218;GTI=0;LEN=1;MEANALT=3;MQM=34.5938;MQMR=35.2879;NS=1;NUMALT=1;ODDS=3477.84;PAIRED=0.881443;PAIREDR=0.853271;PAO=0;PQA=0;PQR=0;PRO=0;QA=27165;QR=33481;RO=1070;RPL=392;RPP=80.458;RPPR=71.7181;RPR=578;RUN=1;SAF=528;SAP=19.5672;SAR=442;SF=0;SRF=511;SRP=7.68607;SRR=559;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon2:c.G195A:p.T65T;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs370102200;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=6.527e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0854;dpsi_zscore=-0.403;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.379e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.079e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1530.8,0,-2007.87:2105:1070:970:27165:33481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 74168411 . A G 11219.45 . AB=0.449923;ABP=45.4193;AC=25;AF=0.5;AN=50;AO=876;CIGAR=1X;DP=35634;DPB=1947;DPRA=0;EPP=25.8554;EPPR=60.3815;GTI=0;LEN=1;MEANALT=3;MQM=37.5879;MQMR=38.0108;NS=1;NUMALT=1;ODDS=3463.11;PAIRED=0.94863;PAIREDR=0.95776;PAO=0;PQA=0;PQR=0;PRO=0;QA=25165;QR=30397;RO=1018;RPL=376;RPP=41.1251;RPPR=73.6663;RPR=500;RUN=1;SAF=552;SAP=131.871;SAR=324;SF=0,1;SRF=637;SRP=142.804;SRR=381;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.T198C:p.F66F;cytoBand=11q13.4;genomicSuperDups=.;esp6500siv2_all=0.1141;esp6500siv2_ea=0.1084;esp6500siv2_all=0.1141;esp6500siv2_ea=0.1084;1000g2015aug_all=0.141174;avsnp147=rs2270676;Kaviar_AF=0.128297;Kaviar_AC=19835;Kaviar_AN=154602;ExAC_ALL=0.1336;ExAC_AFR=0.1306;ExAC_AMR=0.0873;ExAC_EAS=0.1281;ExAC_FIN=0.2147;ExAC_NFE=0.1151;ExAC_OTH=0.1501;ExAC_SAS=0.2119;CLNALLELEID=254321;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM057459#"Meniere's_disease_association_with";gnomAD_exome_ALL=0.1325;gnomAD_exome_AFR=0.1290;gnomAD_exome_AMR=0.0875;gnomAD_exome_ASJ=0.1105;gnomAD_exome_EAS=0.1294;gnomAD_exome_FIN=0.2192;gnomAD_exome_NFE=0.1106;gnomAD_exome_OTH=0.1275;gnomAD_exome_SAS=0.2092;gnomAD_genome_ALL=0.1388;gnomAD_genome_AFR=0.1190;gnomAD_genome_AMR=0.0871;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.1401;gnomAD_genome_FIN=0.2310;gnomAD_genome_NFE=0.1314;gnomAD_genome_OTH=0.1568;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1533.89,0,-1942.92:1947:1018:876:25165:30397 . 0/1:-858.136,0,-1146.36:1181:604:518:14735:18014 . 0/1:-1171.67,0,-1406.41:1441:745:656:19229:22026 . . 0/1:-967.648,0,-1237.42:1226:646:547:15909:19285 . . 0/1:-792.491,0,-1170.47:1131:609:467:13428:18057 . 0/1:-1257.72,0,-1696.08:1654:880:726:21003:26030 . . . 0/1:-777.314,0,-1035.43:1022:541:440:12862:16131 . . . . 0/1:-1528.39,0,-1688.56:1800:882:865:24815:26437 . 0/1:-1220.16,0,-1597.54:1638:846:736:20646:25355 0/1:-697.678,0,-768.767:819:400:387:11177:12027 . . . . . 0/1:-1450.14,0,-1611.17:1777:863:839:23648:25538 . 0/1:-933.63,0,-1171.95:1167:602:522:15195:18378 0/1:-1243.74,0,-1491.38:1606:805:736:20821:23659 0/1:-696.584,0,-760.138:857:424:406:11625:12484 . . . 0/1:-1737.88,0,-1832.77:2022:979:973:27928:29158 . . . . . . . . 0/1:-1187.89,0,-1538.25:1529:787:679:19779:23579 . . . . . 0/1:-1390.13,0,-1746.62:1796:930:794:23076:27339 . . . 0/1:-1310.31,0,-1599.49:1664:849:747:21632:25417 0/1:-1483.5,0,-1496.9:1685:795:824:23954:24255 . 0/1:-995.71,0,-1397.25:1380:725:594:16956:21661 . 0/1:-1087.22,0,-1221.5:1304:632:616:17609:19294 . . . . . . 0/1:-1380.99,0,-1865.23:1771:945:768:22738:28316 . . . . . . . . 0/1:-1184.92,0,-1391.47:1264:652:589:18113:20479:652,589 0/1:-1034,0,-1068.62:1028:509:493:15385:15831:509,493 . . . . . . . . . . . 0/1:-939.452,0,-959.345:925:453:450:14021:14294:453,450 . chr11 111781047 . A C 18157.78 . AB=0.443954;ABP=33.9226;AC=79;AF=0.5;AN=118;AO=503;CIGAR=1X;DP=78017;DPB=1133;DPRA=0;EPP=14.2389;EPPR=22.6163;GTI=0;LEN=1;MEANALT=3;MQM=38.3678;MQMR=39.3435;NS=1;NUMALT=1;ODDS=2058.87;PAIRED=0.966203;PAIREDR=0.974318;PAO=0;PQA=0;PQR=0;PRO=0;QA=14969;QR=19112;RO=623;RPL=170;RPP=117.71;RPPR=192.235;RPR=333;RUN=1;SAF=319;SAP=81.6884;SAR=184;SF=0,1;SRF=424;SRP=179.464;SRR=199;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q23.1;genomicSuperDups=.;esp6500siv2_all=0.2724;esp6500siv2_ea=0.3000;esp6500siv2_all=0.2724;esp6500siv2_ea=0.3000;1000g2015aug_all=0.239816;avsnp147=rs11603779;Kaviar_AF=0.26968;Kaviar_AC=41693;Kaviar_AN=154602;ExAC_ALL=0.2695;ExAC_AFR=0.2133;ExAC_AMR=0.2936;ExAC_EAS=0.1823;ExAC_FIN=0.2519;ExAC_NFE=0.2914;ExAC_OTH=0.3029;ExAC_SAS=0.2506;CLNALLELEID=53401;CLNDN=Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.433;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.68;FATHMM_pred=D;PROVEAN_score=2.13;PROVEAN_pred=N;VEST3_score=0.083;CADD_raw=-0.652;CADD_phred=0.094;DANN_score=0.508;fathmm-MKL_coding_score=0.039;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.030;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=-6.74;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=-0.136;phastCons7way_vertebrate=0.514;phastCons20way_mammalian=0.074;SiPhy_29way_logOdds=2.709;GDI_full_10282015=.;dpsi_max_tissue=9.4252;dpsi_zscore=3.054;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2740;gnomAD_exome_AFR=0.2186;gnomAD_exome_AMR=0.3008;gnomAD_exome_ASJ=0.3608;gnomAD_exome_EAS=0.1784;gnomAD_exome_FIN=0.2539;gnomAD_exome_NFE=0.2894;gnomAD_exome_OTH=0.2923;gnomAD_exome_SAS=0.2538;gnomAD_genome_ALL=0.2559;gnomAD_genome_AFR=0.2252;gnomAD_genome_AMR=0.3103;gnomAD_genome_ASJ=0.3576;gnomAD_genome_EAS=0.1696;gnomAD_genome_FIN=0.25;gnomAD_genome_NFE=0.2783;gnomAD_genome_OTH=0.2714;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-924.935,0,-1281.91:1133:623:503:14969:19112 1/1:-3434.66,-346.091,0:1491:56:1429:41992:1216 . . . . . 0/1:-1280.56,0,-1598.41:1495:789:697:20485:24002 1/1:-3015.23,-303.121,0:1273:39:1229:36543:934 0/1:-1283.69,0,-1447.5:1448:740:702:20322:22570 0/1:-1063.28,0,-1127.57:1165:580:578:17041:17720 . . . 0/1:-960.411,0,-1032.83:1047:531:507:14902:16036 . 0/1:-861.856,0,-1072.9:1033:552:476:13892:16612 0/1:-2346.94,0,-2727.15:2594:1326:1252:36785:41054 . . 0/1:-744.077,0,-996.339:910:493:410:11979:15268 . . 0/1:-1320.6,0,-1682.18:1542:815:719:21029:25253 1/1:-3399.41,-375.036,0:1439:36:1391:40793:688 1/1:-2223.73,-227.475,0:1000:45:948:27018:877 0/1:-1088.24,0,-1446.65:1341:724:610:17658:21958 0/1:-1139.08,0,-1490.86:1352:720:623:18084:22402 . 0/1:-846.1,0,-926.105:896:454:438:12971:14096 . 0/1:-1515.78,0,-1728.52:1665:854:804:23611:26261 . 0/1:-1159.46,0,-1247.3:1258:627:627:18162:19206 . 0/1:-1318.45,0,-1695.1:1548:821:720:21222:25329 . . 0/1:-1180.7,0,-1137.76:1241:595:640:18411:18229 1/1:-2021.42,-227.634,0:829:10:816:23898:237 1/1:-3916.17,-442.962,0:1612:29:1577:46663:468 0/1:-986.989,0,-1280.07:1155:616:531:15724:19167 1/1:-3134.61,-328.986,0:1288:37:1242:37336:688 1/1:-3099.73,-323.932,0:1288:30:1251:37229:728 0/1:-1461.64,0,-1712.55:1629:833:785:22824:25768 1/1:-3279.4,-340.651,0:1363:41:1318:39573:830 . . . . 0/1:-1380.25,0,-1509.17:1494:754:734:21496:22988 . . 0/1:-1346.62,0,-1365.29:1414:692:716:20693:21075 . . . 0/1:-705.113,0,-839.349:822:420:397:11416:12876 . . . 1/1:-3779.13,-363.407,0:1615:62:1543:45813:1459 0/1:-931.679,0,-1212.79:1107:593:509:14916:18056 0/1:-879.955,0,-950.648:1005:496:501:14097:15247 0/1:-1443.67,0,-1506.64:1534:748:777:22622:23380 0/1:-1213.27,0,-1424.42:1358:704:650:19177:21821 1/1:-1686.58,-185.68,0:773:27:742:21187:555 . . . . . . 1/1:-2009.71,-245.386,0:941:23:908:24936:466 1/1:-2583.22,-280.423,0:1090:28:1060:31067:581 0/1:-1445.8,0,-1585.26:1573:794:767:22571:24421 1/1:-3010.56,-333.536,0:1279:32:1238:36366:600 0/1:-1306.03,0,-1664.87:1539:820:712:20870:25195 . 0/1:-897.23,0,-803.478:890:412:475:13872:12779 0/1:-1286.49,0,-1394.08:1417:709:701:20261:21630 . 0/1:-1362.27,0,-1618.25:1575:812:756:21799:24637 0/1:-1349.74,0,-1250.46:1361:643:711:20695:19527 0/1:-1077.7,0,-1096.53:1174:569:600:16972:17158 1/1:-2658.23,-277.604,0:1146:38:1104:32134:832 0/1:-797.51,0,-896.026:886:445:436:12484:13755 . . . . . 0/1:-1572.92,0,-1767.99:1704:867:828:24319:26827 . 1/1:-3508.6,-357.535,0:1514:48:1458:42748:1123 . . . 1/1:-4088.09,-389.485,0:1591:46:1544:48555:1066:46,1544 . 1/1:-3318.81,-300.772,0:1311:51:1258:39517:1088:51,1258 . . 0/1:-1559.38,0,-1647.16:1512:757:752:23478:24218:757,752 . 0/1:-1513.1,0,-1675.86:1513:774:734:22936:24558:774,734 1/1:-3924.68,-372.682,0:1505:42:1460:46314:933:42,1460 0/1:-1135.2,0,-1298.73:1145:591:551:17230:18928:591,551 . 0/1:-1425.74,0,-1515.07:1398:704:689:21435:22488:704,689 1/1:-3671.01,-364.87,0:1431:35:1395:43553:822:35,1395 . . . . 0/1:-1333.54,0,-1474.99:1365:713:647:20074:21934:713,647 chr11 111782284 . C T 2292.54 . AB=0.425287;ABP=24.101;AC=4;AF=0.5;AN=8;AO=185;CIGAR=1X;DP=1675;DPB=435;DPRA=0;EPP=7.24761;EPPR=3.24945;GTI=0;LEN=1;MEANALT=3;MQM=31.6865;MQMR=31.9207;NS=1;NUMALT=1;ODDS=532.14;PAIRED=0.935135;PAIREDR=0.889868;PAO=0;PQA=0;PQR=0;PRO=0;QA=4858;QR=6849;RO=227;RPL=65;RPP=38.5168;RPPR=7.22889;RPR=120;RUN=1;SAF=105;SAP=10.3464;SAR=80;SF=0,1;SRF=123;SRP=6.46361;SRR=104;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CRYAB:NM_001289808:exon1:c.G165A:p.L55L,CRYAB:NM_001289807:exon2:c.G165A:p.L55L,CRYAB:NM_001885:exon2:c.G165A:p.L55L;cytoBand=11q23.1;genomicSuperDups=.;esp6500siv2_all=0.0165;esp6500siv2_ea=0.0226;esp6500siv2_all=0.0165;esp6500siv2_ea=0.0226;1000g2015aug_all=0.0091853;avsnp147=rs2228387;Kaviar_AF=0.0158148;Kaviar_AC=2445;Kaviar_AN=154602;ExAC_ALL=0.0193;ExAC_AFR=0.0040;ExAC_AMR=0.0054;ExAC_EAS=0.0003;ExAC_FIN=0.0209;ExAC_NFE=0.0232;ExAC_OTH=0.0176;ExAC_SAS=0.0315;CLNALLELEID=53400;CLNDN=Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2716;dpsi_zscore=0.849;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0155;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0065;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0160;gnomAD_exome_NFE=0.0206;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0263;gnomAD_genome_ALL=0.0134;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0140;gnomAD_genome_NFE=0.0210;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-243.876,0,-385.82:435:227:185:4858:6849 . . . . . . . . . . . . . . 0/1:-230.431,0,-382.757:416:228:169:4565:6524 . 0/1:-219.154,0,-456.514:444:251:168:4446:7550 . . . . . 0/1:-296.807,0,-405.86:380:197:171:4771:6059:197,171 . . . . . . . . . . . . . . . chr11 118015771 . C T 9331.99 . AB=0.506824;ABP=3.45487;AC=1;AF=0.5;AN=2;AO=557;CIGAR=1X;DP=1099;DPB=1099;DPRA=0;EPP=3.88747;EPPR=4.22414;GTI=0;LEN=1;MEANALT=3;MQM=35.9785;MQMR=36.6615;NS=1;NUMALT=1;ODDS=2014.64;PAIRED=0.921005;PAIREDR=0.96325;PAO=0;PQA=0;PQR=0;PRO=0;QA=16342;QR=15489;RO=517;RPL=164;RPP=207.452;RPPR=246.959;RPR=393;RUN=1;SAF=394;SAP=211.039;SAR=163;SF=0;SRF=367;SRP=200.791;SRR=150;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=SCN4B;GeneDetail.refGene=NM_174934:exon2:c.234+1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q23.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=3.981;CADD_phred=23.6;DANN_score=0.990;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.096;integrated_confidence_value=0;GERP++_RS=5.36;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.323;phastCons20way_mammalian=0.217;SiPhy_29way_logOdds=14.651;GDI_full_10282015=.;dpsi_max_tissue=-27.6584;dpsi_zscore=-3.320;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-984.063,0,-929.045:1099:517:557:16342:15489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 118015832 . G A 10141.68 . AB=0.446192;ABP=33.3893;AC=10;AF=0.5;AN=20;AO=539;CIGAR=1X;DP=15627;DPB=1208;DPRA=0;EPP=143.89;EPPR=198.335;GTI=0;LEN=1;MEANALT=3;MQM=33.9666;MQMR=35.2024;NS=1;NUMALT=1;ODDS=1685.79;PAIRED=0.909091;PAIREDR=0.885077;PAO=0;PQA=0;PQR=0;PRO=0;QA=13810;QR=16525;RO=583;RPL=309;RPP=28.1535;RPPR=5.72557;RPR=230;RUN=1;SAF=289;SAP=9.13796;SAR=250;SF=0,1;SRF=301;SRP=4.3549;SRR=282;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN4B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN4B:NM_174934:exon2:c.C174T:p.C58C;cytoBand=11q23.3;genomicSuperDups=.;esp6500siv2_all=0.0368;esp6500siv2_ea=0.0374;esp6500siv2_all=0.0368;esp6500siv2_ea=0.0374;1000g2015aug_all=0.0349441;avsnp147=rs45539032;Kaviar_AF=0.0353876;Kaviar_AC=5471;Kaviar_AN=154602;ExAC_ALL=0.0349;ExAC_AFR=0.0405;ExAC_AMR=0.0267;ExAC_EAS=0.0125;ExAC_FIN=0.0133;ExAC_NFE=0.0398;ExAC_OTH=0.0419;ExAC_SAS=0.0372;CLNALLELEID=142740;CLNDN=Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3270;dpsi_zscore=0.929;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0354;gnomAD_exome_AFR=0.0403;gnomAD_exome_AMR=0.0301;gnomAD_exome_ASJ=0.0774;gnomAD_exome_EAS=0.0136;gnomAD_exome_FIN=0.0143;gnomAD_exome_NFE=0.0392;gnomAD_exome_OTH=0.0436;gnomAD_exome_SAS=0.0377;gnomAD_genome_ALL=0.0334;gnomAD_genome_AFR=0.0381;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0142;gnomAD_genome_FIN=0.0152;gnomAD_genome_NFE=0.0372;gnomAD_genome_OTH=0.0295;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-757.308,0,-977.101:1208:583:539:13810:16525 . . . . . . . . . . . . . . 0/1:-1416.79,0,-1705.93:2139:999:1011:25122:28794 . . . . . . . 0/1:-1246.43,0,-1657.86:2003:962:916:22594:27772 . . . . . . . . . 0/1:-964.683,0,-1415.09:1631:820:716:17526:22984 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-429.329,0,-828.733:943:501:372:8990:14010 . . . . . . . . . 0/1:-1109.07,0,-1313.3:1647:772:772:19443:22388 . . . . . . . 0/1:-670.555,0,-687.474:939:413:462:11458:11706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1360.17,0,-1693.44:1588:813:728:21153:25233:813,728 . . . 0/1:-1525.46,0,-1393.89:1506:684:781:22832:21188:684,781 . 0/1:-1802.48,0,-2023.56:2023:1002:969:27820:30664:1002,969 chr11 118023323 . C T 1047.72 . AB=0.414226;ABP=18.2833;AC=1;AF=0.5;AN=2;AO=99;CIGAR=1X;DP=239;DPB=239;DPRA=0;EPP=47.4268;EPPR=39.4772;GTI=0;LEN=1;MEANALT=3;MQM=33.0808;MQMR=29.6349;NS=1;NUMALT=1;ODDS=241.246;PAIRED=0.828283;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=2319;QR=3698;RO=126;RPL=43;RPP=6.71716;RPPR=27.8961;RPR=56;RUN=1;SAF=54;SAP=4.78696;SAR=45;SF=0;SRF=62;SRP=3.07924;SRR=64;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN4B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q23.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.13e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.206e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-117.143,0,-197.658:239:126:99:2319:3698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 118037813 . G T 6639.48 . AB=0.485356;ABP=4.79109;AC=101;AF=0.5;AN=164;AO=464;CIGAR=1X;DP=67394;DPB=956;DPRA=0;EPP=8.42026;EPPR=3.12411;GTI=0;LEN=1;MEANALT=3;MQM=31.4483;MQMR=32.8595;NS=1;NUMALT=1;ODDS=1236.66;PAIRED=0.924569;PAIREDR=0.937107;PAO=0;PQA=0;PQR=0;PRO=0;QA=11614;QR=13056;RO=477;RPL=329;RPP=179.143;RPPR=172.581;RPR=135;RUN=1;SAF=114;SAP=263.662;SAR=350;SF=0,1;SRF=135;SRP=198.074;SRR=342;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q23.3;genomicSuperDups=.;esp6500siv2_all=0.4381;esp6500siv2_ea=0.4707;esp6500siv2_all=0.4381;esp6500siv2_ea=0.4707;1000g2015aug_all=0.514377;avsnp147=rs8192613;Kaviar_AF=0.489121;Kaviar_AC=75619;Kaviar_AN=154602;ExAC_ALL=0.5022;ExAC_AFR=0.3677;ExAC_AMR=0.4808;ExAC_EAS=0.7731;ExAC_FIN=0.5623;ExAC_NFE=0.4739;ExAC_OTH=0.5190;ExAC_SAS=0.5480;CLNALLELEID=254012;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5047;gnomAD_exome_AFR=0.3585;gnomAD_exome_AMR=0.4848;gnomAD_exome_ASJ=0.5451;gnomAD_exome_EAS=0.7742;gnomAD_exome_FIN=0.5459;gnomAD_exome_NFE=0.4661;gnomAD_exome_OTH=0.4885;gnomAD_exome_SAS=0.5510;gnomAD_genome_ALL=0.4615;gnomAD_genome_AFR=0.3484;gnomAD_genome_AMR=0.4653;gnomAD_genome_ASJ=0.5596;gnomAD_genome_EAS=0.7733;gnomAD_genome_FIN=0.5592;gnomAD_genome_NFE=0.4683;gnomAD_genome_OTH=0.4663;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-590.919,0,-709.543:956:477:464:11614:13056 0/1:-429.076,0,-679.992:782:432:335:8521:12086 0/1:-286.039,0,-406.661:497:268:221:5682:7428 0/1:-506.266,0,-572.477:797:392:388:9964:10617 0/1:-567.775,0,-876.984:1052:571:456:11695:15993 1/1:-1082.75,-136.41,0:671:45:618:15420:816 0/1:-468.884,0,-794.426:905:506:381:9494:14090 1/1:-1271.99,-149.138,0:762:58:694:17846:1050 1/1:-1255.12,-138.421,0:816:68:733:18136:1242 0/1:-434.535,0,-620.128:746:403:329:8712:11084 0/1:-502.266,0,-619.537:808:399:400:9944:11193 0/1:-392.908,0,-573.009:718:375:332:8135:10677 0/1:-317.675,0,-555.225:654:363:279:6791:9959 0/1:-369.99,0,-591.121:681:377:299:7514:10395 . 1/1:-881.595,-93.4163,0:576:51:516:13221:1008 0/1:-977.291,0,-1563.89:1770:956:786:20253:26937 . . . 0/1:-551.438,0,-693.066:906:465:420:10684:12529 0/1:-275.533,0,-312.129:468:234:223:5649:6415 0/1:-617.948,0,-767.451:999:496:480:12073:13831 . 0/1:-338.984,0,-442.755:613:318:285:7232:8387 0/1:-427.398,0,-718.766:808:451:349:8884:12551 0/1:-440.105,0,-595.575:742:387:347:8836:10644 0/1:-373.698,0,-501.003:663:347:306:7952:9447 0/1:-351.731,0,-546.762:686:369:302:7536:10178 . 1/1:-1625.41,-189.84,0:972:69:893:22327:1258 0/1:-469.014,0,-803.2:899:502:385:9616:14189 0/1:-481.22,0,-728.11:895:470:396:9810:13237 0/1:-522.031,0,-709.495:844:444:386:10163:12580 0/1:-570.184,0,-721.705:934:466:446:11435:13031 . . . 0/1:-367.443,0,-483.008:638:336:290:7322:9061 . 0/1:-511.869,0,-593.095:844:428:395:10020:11421 . . 0/1:-601.804,0,-706.863:967:473:471:11678:13403 . 1/1:-1299.64,-164.405,0:804:54:732:18319:934 0/1:-228.984,0,-343.329:423:228:187:4633:6129 . 0/1:-531.692,0,-821.356:967:513:437:10726:14479 1/1:-1510.63,-159.57,0:923:75:833:21334:1399 1/1:-1170.29,-159.558,0:765:55:697:17144:894 0/1:-633.316,0,-779.545:972:490:472:12263:13630 0/1:-677.71,0,-732.5:1010:490:501:12911:13527 0/1:-223.721,0,-531.433:569:334:230:5622:9460 . . 0/1:-188.112,0,-346.3:459:249:205:4936:6600 0/1:-310.284,0,-439.19:549:291:245:6302:8169 . 0/1:-207.889,0,-424.242:502:292:206:4843:7982 . 1/1:-1299.93,-184.559,0:765:36:718:17673:584 0/1:-380.695,0,-366.118:580:276:295:7632:7434 . . 0/1:-271.42,0,-381.067:510:266:237:5961:7212 . 0/1:-433.444,0,-604.561:770:397:355:8799:10991 0/1:-514.235,0,-636.478:874:455:399:10065:12485 . . 0/1:-509.306,0,-779.631:961:531:415:10582:14632 1/1:-568.807,-63.3638,0:421:41:360:9148:854 . 0/1:-547.553,0,-798.058:1040:549:468:11732:14814 . . 1/1:-926.034,-107.315,0:574:48:521:13166:827 1/1:-773.422,-78.2039,0:455:40:404:10934:828 1/1:-1369.05,-156.272,0:891:76:801:20062:1378 0/1:-514.202,0,-736.01:931:488:429:10582:13540 0/1:-526.473,0,-738.683:929:501:416:10624:13420 . 0/1:-362.448,0,-639.494:776:443:317:7813:11777 1/1:-1276.08,-155.731,0:780:55:711:18103:1004 0/1:-359.266,0,-496.689:595:307:276:7106:8624 0/1:-491.692,0,-643.227:851:422:404:9897:11767 . 0/1:-395.402,0,-634.233:758:404:339:8297:11400 1/1:-1762.27,-213.555,0:1038:77:957:24791:1283 1/1:-1263.37,-149.189,0:765:60:688:17528:962 0/1:-547.118,0,-883.642:1051:568:457:11531:15418 0/1:-468.788,0,-608.711:859:432:411:9716:11553 0/1:-561.262,0,-738.734:946:505:427:11052:13437 . 1/1:-2455.02,-231.68,0:1032:40:984:29697:953:40,984 0/1:-876.628,0,-1064.26:1025:542:474:13987:16106:542,474 0/1:-1024.72,0,-1101.7:1093:556:527:15880:16893:556,527 . 1/1:-1945.39,-189.467,0:839:38:798:23538:740:38,798 0/1:-828.911,0,-911.06:903:449:449:13051:13924:449,449 0/1:-760.752,0,-995.209:911:493:410:12234:14897:493,410 0/1:-806.352,0,-1119.18:995:549:439:12964:16741:549,439 0/1:-774.916,0,-984.906:937:493:437:12658:14890:493,437 . 0/1:-1119.31,0,-1167.44:1136:567:564:16913:17586:567,564 . 1/1:-2082.01,-205.231,0:890:40:847:25066:795:40,847 0/1:-865.254,0,-791.069:831:388:437:13119:12098:388,437 . 0/1:-776.24,0,-1025.85:920:497:416:12327:15406:497,416 0/1:-940.826,0,-1165:1070:557:505:14846:17292:557,505 0/1:-751.106,0,-761.162:794:386:402:11513:11721:386,402 0/1:-922.52,0,-839.223:875:419:450:13833:12793:419,450 0/1:-1067.13,0,-900.786:1011:474:530:16072:14136:474,530 chr11 123504813 . T G 13797.60 . AB=0.53008;ABP=14.7676;AC=1;AF=0.5;AN=2;AO=793;CIGAR=1X;DP=1496;DPB=1496;DPRA=0;EPP=124.922;EPPR=101.349;GTI=0;LEN=1;MEANALT=3;MQM=37.8739;MQMR=38.4342;NS=1;NUMALT=1;ODDS=2863.34;PAIRED=0.983607;PAIREDR=0.954678;PAO=0;PQA=0;PQR=0;PRO=0;QA=21932;QR=20462;RO=684;RPL=372;RPP=9.58496;RPPR=24.3568;RPR=421;RUN=1;SAF=493;SAP=105.009;SAR=300;SF=0;SRF=399;SRP=44.2683;SRR=285;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.1;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000599042;avsnp147=rs199552601;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=9.711e-05;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=142738;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6223;dpsi_zscore=1.247;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1413.11,0,-1269.72:1496:684:793:21932:20462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 123504959 . C G 19979.63 . AB=0;ABP=0;AC=146;AF=1;AN=198;AO=1033;CIGAR=1X;DP=135537;DPB=1065;DPRA=0;EPP=4.12231;EPPR=3.25157;GTI=0;LEN=1;MEANALT=3;MQM=37.0077;MQMR=28.4444;NS=1;NUMALT=1;ODDS=1379.31;PAIRED=0.936108;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=27774;QR=166;RO=9;RPL=681;RPP=230.544;RPPR=3.25157;RPR=352;RUN=1;SAF=503;SAP=4.54273;SAR=530;SF=0,1;SRF=7;SRP=9.04217;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.1;genomicSuperDups=.;esp6500siv2_all=0.6690;esp6500siv2_ea=0.5523;esp6500siv2_all=0.6690;esp6500siv2_ea=0.5523;1000g2015aug_all=0.750599;avsnp147=rs1148110;Kaviar_AF=0.605458;Kaviar_AC=93605;Kaviar_AN=154602;ExAC_ALL=0.6276;ExAC_AFR=0.9085;ExAC_AMR=0.5889;ExAC_EAS=0.7535;ExAC_FIN=0.4958;ExAC_NFE=0.5550;ExAC_OTH=0.6176;ExAC_SAS=0.7542;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6901;dpsi_zscore=1.304;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6185;gnomAD_exome_AFR=0.9133;gnomAD_exome_AMR=0.5986;gnomAD_exome_ASJ=0.6428;gnomAD_exome_EAS=0.7563;gnomAD_exome_FIN=0.4834;gnomAD_exome_NFE=0.5519;gnomAD_exome_OTH=0.5862;gnomAD_exome_SAS=0.7502;gnomAD_genome_ALL=0.6546;gnomAD_genome_AFR=0.9078;gnomAD_genome_AMR=0.6074;gnomAD_genome_ASJ=0.6040;gnomAD_genome_EAS=0.7460;gnomAD_genome_FIN=0.4983;gnomAD_genome_NFE=0.5424;gnomAD_genome_OTH=0.5774;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2295.26,-303.267,0:1065:9:1033:27774:166 1/1:-3302.81,-393.005,0:1531:30:1445:40364:643 0/1:-1215.85,0,-1154.48:1320:601:688:19297:18531 0/1:-808.474,0,-840.318:904:437:449:12737:13431 1/1:-3121.68,-386.882,0:1502:32:1427:39270:646 . . 1/1:-3404.64,-397.734,0:1563:39:1481:41605:749 0/1:-1050.01,0,-1393.61:1371:697:635:17595:21622 1/1:-2878.62,-332.129,0:1359:34:1281:35536:753 1/1:-2677.24,-296.088,0:1290:46:1213:33446:1027 0/1:-1094.55,0,-1366.97:1397:699:664:18175:21577 1/1:-2606.08,-304.555,0:1219:30:1149:32649:599 1/1:-2168.23,-274.387,0:1042:23:994:26877:369 0/1:-732.764,0,-1137.98:1059:584:452:12625:17484 0/1:-1552.78,0,-1883.66:1951:971:932:25943:29465 1/1:-2005.53,-262.169,0:984:22:929:25382:337 0/1:-2079.43,0,-3094.21:2893:1543:1275:35502:47440 0/1:-1142.72,0,-1143.14:1303:610:654:18306:18348 1/1:-1994.73,-246.923,0:937:20:886:24715:324 0/1:-725.631,0,-1051.04:994:531:446:12367:16129 1/1:-3398.74,-429.609,0:1576:21:1501:41395:352 . 0/1:-1642.78,0,-1740.1:1874:903:924:26490:27713 0/1:-1302.44,0,-1480.44:1596:770:778:21469:23470 . 0/1:-1056.48,0,-1407.16:1373:703:630:17564:21682 1/1:-3032.34,-381.787,0:1362:14:1311:36541:229 0/1:-621.534,0,-1130.73:1064:596:436:11664:17802 0/1:-925.434,0,-1074.84:1086:533:531:15219:16599 0/1:-865.169,0,-1147.12:1103:557:521:14537:17478 1/1:-3210.6,-392.11,0:1468:23:1404:39046:466 0/1:-1091.48,0,-1436.49:1475:751:676:18499:22337 1/1:-3133.04,-383.164,0:1446:29:1381:38434:501 0/1:-1158.22,0,-1218.21:1333:631:669:18717:19275 1/1:-3360.23,-382.801,0:1544:39:1461:41283:809 1/1:-3522.15,-439.891,0:1615:20:1551:42809:413 1/1:-2794.3,-335.499,0:1256:18:1191:34058:327 1/1:-2665.96,-310.645,0:1242:29:1174:32792:605 1/1:-2076.29,-250.352,0:929:17:889:25060:291 . 1/1:-2781.69,-355.143,0:1316:20:1255:34234:337 0/1:-1004.86,0,-1298.48:1289:657:600:16764:20185 . 1/1:-3510.29,-420.541,0:1623:36:1540:43329:668 0/1:-1067.6,0,-1419.28:1410:721:656:17825:22057 0/1:-1113.7,0,-1484.36:1477:757:694:18869:22988 0/1:-608.699,0,-769.961:761:389:353:10172:11954 0/1:-856.244,0,-1139.1:1116:570:517:14283:17560 0/1:-1528.12,0,-1634.03:1761:839:874:24432:25812 1/1:-3152.35,-382.326,0:1437:22:1373:38462:450 1/1:-2413.7,-310.483,0:1168:23:1107:30280:362 1/1:-3501.52,-428.345,0:1596:27:1523:42532:493 0/1:-1205.59,0,-1458.5:1464:734:695:19700:22677 1/1:-1972.68,-265.928,0:964:9:919:25149:170 1/1:-2206.94,-269.055,0:1048:24:985:27250:436 1/1:-3052.81,-366.984,0:1410:28:1346:37256:551 1/1:-1569.55,-204.635,0:742:13:713:19532:226 0/1:-693.079,0,-903.293:882:447:420:11590:13956 . 0/1:-609.984,0,-893.357:875:466:394:10609:14089 0/1:-1440.23,0,-1514.02:1693:806:839:23485:24227 0/1:-1090.38,0,-1251.92:1323:644:642:17539:19613 0/1:-693.778,0,-1039.81:1034:546:453:12343:16444 1/1:-3619.94,-445.807,0:1684:30:1598:44287:562 0/1:-1033.73,0,-1389.01:1374:712:628:17317:21854 . 1/1:-2831.62,-343.93,0:1289:21:1228:34704:395 . 1/1:-2924.34,-359.897,0:1363:29:1299:35816:509 0/1:-1272.82,0,-1378.74:1479:707:736:20576:21812 1/1:-3953.01,-470.04,0:1811:38:1729:48535:810 1/1:-2828.73,-347.294,0:1305:19:1246:34654:431 0/1:-457.473,0,-929.209:934:531:369:9543:15456 . 0/1:-1181.7,0,-1633.4:1612:824:753:20881:25335 . 0/1:-1090.38,0,-1494.44:1456:755:663:18415:23313 0/1:-773.592,0,-892.61:929:452:452:12566:14048 . 0/1:-1176.14,0,-1385.58:1469:718:707:19502:22132 0/1:-1158.19,0,-1684.78:1635:864:737:20201:26265 0/1:-1279.86,0,-1458.3:1522:753:735:20907:23088 0/1:-961.562,0,-1271.64:1262:665:569:16124:19938 0/1:-945.738,0,-1327.59:1289:679:575:16397:20813 0/1:-1012.68,0,-1355.27:1336:691:611:17114:20916 0/1:-843.001,0,-856.836:970:458:481:13495:14018 0/1:-1269.74,0,-1440.64:1558:775:753:21092:23329 1/1:-1635.65,-203.391,0:758:15:723:19918:261 1/1:-2682.95,-341.51,0:1239:15:1196:33199:296 1/1:-4183.2,-486.904,0:1900:38:1808:51082:834 0/1:-855.397,0,-1259.68:1204:641:537:14878:19422 . 1/1:-3362.98,-423.577,0:1550:20:1482:41143:371 0/1:-1055.95,0,-1575.08:1501:802:658:17962:24460 . 0/1:-1552.93,0,-1770.16:1615:820:761:23349:26129:820,761 1/1:-3916.87,-432.78,0:1583:19:1542:46055:442:19,1542 1/1:-4398.58,-499.424,0:1757:11:1711:51307:220:11,1711 . 0/1:-1198.5,0,-1600.5:1376:730:627:18540:23177:730,627 1/1:-4136.39,-469.785,0:1658:9:1612:48501:206:9,1612 1/1:-3650.48,-411.831,0:1472:12:1423:42651:266:12,1423 1/1:-3783.81,-406.497,0:1547:23:1487:44651:562:23,1487 1/1:-3701.68,-403.221,0:1497:21:1441:43280:484:21,1441 . . 0/1:-1214.23,0,-1388.47:1252:636:597:18432:20489:636,597 1/1:-3697.07,-410.043,0:1490:16:1447:43251:343:16,1447 0/1:-1323.83,0,-1511.03:1402:708:671:20284:22364:708,671 0/1:-1651.71,0,-1691.46:1689:809:844:25055:25588:809,844 1/1:-3500.72,-372.62,0:1416:19:1359:41033:478:19,1359 1/1:-4105.49,-456.153,0:1654:16:1596:47984:357:16,1596 0/1:-1277.74,0,-1607.74:1419:737:658:19666:23474:737,658 0/1:-1294.32,0,-1449.01:1334:671:643:19639:21152:671,643 1/1:-3879.66,-422.152,0:1532:14:1489:45515:342:14,1489 chr11 123513161 . G A 6520.47 . AB=0.443478;ABP=22.157;AC=25;AF=0.5;AN=50;AO=306;CIGAR=1X;DP=24170;DPB=690;DPRA=0;EPP=12.2071;EPPR=4.05582;GTI=0;LEN=1;MEANALT=3;MQM=33.0752;MQMR=33.792;NS=1;NUMALT=1;ODDS=910.332;PAIRED=0.885621;PAIREDR=0.846154;PAO=0;PQA=0;PQR=0;PRO=0;QA=8508;QR=10727;RO=351;RPL=36;RPP=391.576;RPPR=333.13;RPR=270;RUN=1;SAF=197;SAP=57.9642;SAR=109;SF=0,1;SRF=226;SRP=66.1191;SRR=125;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN3B:NM_018400:exon3:c.C438T:p.T146T,SCN3B:NM_001040151:exon4:c.C438T:p.T146T;cytoBand=11q24.1;genomicSuperDups=.;esp6500siv2_all=0.0902;esp6500siv2_ea=0.0896;esp6500siv2_all=0.0902;esp6500siv2_ea=0.0896;1000g2015aug_all=0.0820687;avsnp147=rs1275085;Kaviar_AF=0.0865254;Kaviar_AC=13377;Kaviar_AN=154602;ExAC_ALL=0.0896;ExAC_AFR=0.0932;ExAC_AMR=0.0387;ExAC_EAS=0.0024;ExAC_FIN=0.0927;ExAC_NFE=0.0915;ExAC_OTH=0.0949;ExAC_SAS=0.1595;CLNALLELEID=254022;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1088;dpsi_zscore=-0.475;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0869;gnomAD_exome_AFR=0.0952;gnomAD_exome_AMR=0.0381;gnomAD_exome_ASJ=0.1333;gnomAD_exome_EAS=0.0026;gnomAD_exome_FIN=0.0937;gnomAD_exome_NFE=0.0880;gnomAD_exome_OTH=0.0887;gnomAD_exome_SAS=0.1591;gnomAD_genome_ALL=0.0853;gnomAD_genome_AFR=0.0968;gnomAD_genome_AMR=0.0335;gnomAD_genome_ASJ=0.1233;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0928;gnomAD_genome_NFE=0.0882;gnomAD_genome_OTH=0.0845;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-453.116,0,-626.892:690:351:306:8508:10727 . 0/1:-534.688,0,-782.167:837:450:357:10214:13401 . 0/1:-786.749,0,-689.11:946:416:495:14067:12498 . . 0/1:-662.265,0,-976.876:1050:566:438:12578:16845 0/1:-549.819,0,-772.162:849:441:379:10743:13334 . . . . . . . . 0/1:-1489.51,0,-1673.02:1993:986:933:27298:29228 . . . . . . . . . 0/1:-618.346,0,-903.545:983:505:431:11750:15269 0/1:-394.004,0,-487.623:610:311:273:7446:8949 . . . 0/1:-661.553,0,-854.884:993:501:457:12778:15053 . . . . 0/1:-511.629,0,-861.4:859:482:348:10226:14422 0/1:-706.491,0,-700.425:940:431:462:12943:12578 . . 0/1:-639.922,0,-820.513:953:474:447:12321:14240 0/1:-734.681,0,-792.677:995:476:478:13784:14031 . . . . 0/1:-442.778,0,-442.196:577:271:293:8230:8136 . 0/1:-921.128,0,-933.137:1125:529:559:16043:16056 0/1:-780.385,0,-903.817:1063:524:496:13966:15624 . 0/1:-785.339,0,-828.477:1044:485:521:14280:14355 0/1:-769.274,0,-943.76:1097:555:498:14159:16575 . . . . . . 0/1:-342.743,0,-372.168:513:247:245:6710:7213 . . . . . . . . . . . . . . . 0/1:-784.944,0,-983.384:1159:577:530:15088:17026 . . . . . . . 0/1:-604.67,0,-643.808:845:413:401:11010:11674 . . 0/1:-630.576,0,-834.15:987:502:446:12109:14931 . . . 0/1:-671.449,0,-864.202:943:491:424:12338:14863 . . . . . . . . . 0/1:-1024.62,0,-1114.58:1090:552:527:15967:17001:552,527 . . . . . . . . . . 0/1:-993.98,0,-954.492:1029:508:507:15172:14989:508,507 . . . chr11 123513209 . C T 13856.99 . AB=0.431529;ABP=54.1575;AC=2;AF=0.5;AN=4;AO=542;CIGAR=1X;DP=4242;DPB=1256;DPRA=0;EPP=6.15132;EPPR=20.5168;GTI=0;LEN=1;MEANALT=3;MQM=33.1679;MQMR=34.7489;NS=1;NUMALT=1;ODDS=1769.07;PAIRED=0.845018;PAIREDR=0.897126;PAO=0;PQA=0;PQR=0;PRO=0;QA=14851;QR=19832;RO=661;RPL=234;RPP=24.9494;RPPR=12.9478;RPR=308;RUN=1;SAF=317;SAP=36.9205;SAR=225;SF=0;SRF=371;SRP=24.5641;SRR=290;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN3B:NM_018400:exon3:c.G390A:p.A130A,SCN3B:NM_001040151:exon4:c.G390A:p.A130A;cytoBand=11q24.1;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0008;1000g2015aug_all=.;avsnp147=rs148484744;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0003;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0.0023;ExAC_NFE=0.0010;ExAC_OTH=0.0011;ExAC_SAS=0.0008;CLNALLELEID=142736;CLNDN=Brugada_syndrome_7|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751088,OMIM:613120|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1062;dpsi_zscore=-0.468;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0032;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0043;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-784.803,0,-1179.16:1256:661:542:14851:19832 . . . . . . . . 0/1:-2029.62,0,-2728.96:2986:1514:1348:36987:45520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 123524411 . G A 7462.43 . AB=0.41129;ABP=53.8648;AC=28;AF=0.5;AN=52;AO=306;CIGAR=1X;DP=19965;DPB=744;DPRA=0;EPP=3.0103;EPPR=24.087;GTI=0;LEN=1;MEANALT=3;MQM=35.3137;MQMR=36.8152;NS=1;NUMALT=1;ODDS=1089.61;PAIRED=0.941176;PAIREDR=0.959716;PAO=0;PQA=0;PQR=0;PRO=0;QA=8826;QR=12738;RO=422;RPL=140;RPP=7.80741;RPPR=44.6902;RPR=166;RUN=1;SAF=201;SAP=68.4099;SAR=105;SF=0,1;SRF=249;SRP=32.7317;SRR=173;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.1;genomicSuperDups=.;esp6500siv2_all=0.1373;esp6500siv2_ea=0.1395;esp6500siv2_all=0.1373;esp6500siv2_ea=0.1395;1000g2015aug_all=0.142173;avsnp147=rs3851102;Kaviar_AF=0.143814;Kaviar_AC=22234;Kaviar_AN=154602;ExAC_ALL=0.1456;ExAC_AFR=0.1369;ExAC_AMR=0.2450;ExAC_EAS=0.1663;ExAC_FIN=0.1822;ExAC_NFE=0.1402;ExAC_OTH=0.1244;ExAC_SAS=0.0785;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4678;dpsi_zscore=-1.059;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1498;gnomAD_exome_AFR=0.1370;gnomAD_exome_AMR=0.2380;gnomAD_exome_ASJ=0.1078;gnomAD_exome_EAS=0.1630;gnomAD_exome_FIN=0.1744;gnomAD_exome_NFE=0.1415;gnomAD_exome_OTH=0.1434;gnomAD_exome_SAS=0.0790;gnomAD_genome_ALL=0.1462;gnomAD_genome_AFR=0.1356;gnomAD_genome_AMR=0.2387;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.1625;gnomAD_genome_FIN=0.1816;gnomAD_genome_NFE=0.1368;gnomAD_genome_OTH=0.1663;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-491.2,0,-813.041:744:422:306:8826:12738 . . . . 0/1:-1050,0,-824.243:1073:476:566:16513:14164 . . . . . . . . . . . . . 0/1:-464.146,0,-612.777:610:314:275:8111:9546 0/1:-550.321,0,-491.483:625:276:332:9275:8311 0/1:-980.151,0,-857.634:1031:464:536:15653:13977 . . . . . . . . 0/1:-590.071,0,-802.913:772:408:348:10159:12376 . . 0/1:-737.029,0,-709.873:835:407:407:12186:12122 0/1:-696.435,0,-858.483:854:435:395:11402:13352 . . 0/1:-764.525,0,-888.397:945:475:435:12729:14263 . . 1/1:-2411.12,-290.455,0:1058:7:1014:29729:211 . . 0/1:-654.309,0,-859.894:860:452:382:11225:13398 . . . . 0/1:-607.181,0,-550.508:643:300:318:9580:8884 . . 0/1:-632.544,0,-726.944:805:401:386:11018:11962 . . . . . 0/1:-413.626,0,-452.079:532:269:248:7157:7752 . . . . . . 0/1:-889.154,0,-1054.8:1099:553:523:15183:16579 . . 0/1:-713.657,0,-813.962:854:424:410:11987:12886 . . . . 0/1:-687.855,0,-1053.01:990:535:425:12252:16181 . . . . . . . . 0/1:-755.832,0,-879.655:910:459:432:12818:14176 . . . . 0/1:-522.991,0,-590.149:633:319:304:8868:9895 . . 0/1:-536.933,0,-900.748:818:461:336:9566:13886 . . 1/1:-2386.03,-279.691,0:1092:18:1040:30020:543 . . . . . . 0/1:-308.933,0,-258.376:289:132:153:4639:4055:132,153 . . . . . . 0/1:-421.676,0,-753.212:563:334:224:6891:10686:334,224 0/1:-463.477,0,-453.931:445:215:224:6961:6807:215,224 0/1:-418.26,0,-402.856:413:193:211:6429:6090:193,211 . . . . . 0/1:-511.527,0,-450.431:472:216:253:7639:6841:216,253 . chr11 123524504 . A G 8183.52 . AB=0.499502;ABP=3.01246;AC=1;AF=0.5;AN=2;AO=502;CIGAR=1X;DP=1005;DPB=1005;DPRA=0;EPP=19.6381;EPPR=63.9821;GTI=0;LEN=1;MEANALT=3;MQM=34.3088;MQMR=35.5244;NS=1;NUMALT=1;ODDS=1871.12;PAIRED=0.914343;PAIREDR=0.870488;PAO=0;PQA=0;PQR=0;PRO=0;QA=14214;QR=14278;RO=471;RPL=321;RPP=87.7929;RPPR=160.799;RPR=181;RUN=1;SAF=219;SAP=20.7281;SAR=283;SF=0;SRF=209;SRP=15.9608;SRR=262;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN3B:NM_018400:exon1:c.T6C:p.P2P,SCN3B:NM_001040151:exon2:c.T6C:p.P2P;cytoBand=11q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769826959;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.242e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2041;dpsi_zscore=1.637;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.218e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.686e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-838.516,0,-844.344:1005:471:502:14214:14278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 128781339 . T C 20893.67 . AB=0;ABP=0;AC=211;AF=1;AN=228;AO=804;CIGAR=1X;DP=115576;DPB=813;DPRA=0;EPP=72.1517;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=33.8632;MQMR=0;NS=1;NUMALT=1;ODDS=1117.58;PAIRED=0.873134;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=23998;QR=0;RO=0;RPL=329;RPP=60.5813;RPPR=0;RPR=475;RUN=1;SAF=393;SAP=3.88537;SAR=411;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T171C:p.S57S;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.8483;esp6500siv2_ea=0.8250;esp6500siv2_all=0.8483;esp6500siv2_ea=0.8250;1000g2015aug_all=0.869808;avsnp147=rs6590357;Kaviar_AF=0.833178;Kaviar_AC=128811;Kaviar_AN=154602;ExAC_ALL=0.8436;ExAC_AFR=0.8982;ExAC_AMR=0.8065;ExAC_EAS=0.8790;ExAC_FIN=0.7900;ExAC_NFE=0.8296;ExAC_OTH=0.8256;ExAC_SAS=0.8953;CLNALLELEID=141693;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0956;dpsi_zscore=0.470;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8400;gnomAD_exome_AFR=0.9041;gnomAD_exome_AMR=0.8139;gnomAD_exome_ASJ=0.8466;gnomAD_exome_EAS=0.8801;gnomAD_exome_FIN=0.7931;gnomAD_exome_NFE=0.8274;gnomAD_exome_OTH=0.8384;gnomAD_exome_SAS=0.8920;gnomAD_genome_ALL=0.8476;gnomAD_genome_AFR=0.9048;gnomAD_genome_AMR=0.8162;gnomAD_genome_ASJ=0.8179;gnomAD_genome_EAS=0.8915;gnomAD_genome_FIN=0.7991;gnomAD_genome_NFE=0.8249;gnomAD_genome_OTH=0.8218;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1862.08,-242.028,0:813:0:804:23998:0 0/1:-1040.35,0,-1006.07:1287:618:619:18213:17152 1/1:-2357.99,-300.675,0:1024:1:1002:30187:14 1/1:-1584.84,-200.385,0:684:3:676:20230:78 1/1:-2428.34,-293.586,0:1067:10:1040:30700:272 1/1:-3019.07,-382.472,0:1312:4:1286:38522:118 1/1:-1939.2,-252.766,0:853:1:841:24915:21 0/1:-1116.88,0,-1027.92:1321:625:638:18848:17858 1/1:-2019.84,-255.507,0:890:5:875:25984:159 1/1:-2503.41,-324.209,0:1103:0:1077:32066:0 1/1:-2234.78,-286.676,0:974:3:958:28792:64 1/1:-2377.06,-298.251,0:1029:3:1007:29984:77 1/1:-2192.53,-280.38,0:955:2:938:28202:41 1/1:-1714.6,-226.506,0:800:6:777:22970:131 0/1:-773.541,0,-642.049:887:406:449:13359:11439 1/1:-3437.59,-438.1,0:1481:4:1461:43834:113 0/1:-625.294,0,-652.36:819:412:378:11271:11519 1/1:-5473.33,-684.099,0:2354:7:2309:69446:164 1/1:-2343.51,-290.026,0:1006:2:980:29519:63 0/1:-566.42,0,-652.514:749:390:329:10027:11066 1/1:-1757.29,-219.935,0:772:3:758:22198:104 1/1:-2421.04,-310.34,0:1070:4:1047:31229:96 1/1:-1340.12,-172.025,0:604:2:584:17270:50 1/1:-2837.42,-357.417,0:1247:8:1222:36744:178 0/1:-1063.03,0,-918.82:1222:583:600:17723:16182 1/1:-1740.94,-243.794,0:830:1:811:23082:14 0/1:-1105.08,0,-827.993:1184:538:610:18528:14936 1/1:-2587.96,-326.385,0:1113:3:1095:32657:49 1/1:-1756.16,-229.988,0:793:3:777:22861:78 1/1:-1876.09,-234.201,0:788:0:778:23467:0 1/1:-2164.68,-275.431,0:933:1:918:27633:14 1/1:-2804.85,-357.675,0:1222:2:1200:35765:68 0/1:-974.483,0,-900.323:1157:552:560:16531:15519 1/1:-2781.9,-362.741,0:1228:0:1205:35155:0 1/1:-2451.68,-296.192,0:1030:4:1007:30684:100 1/1:-2582.15,-333.935,0:1148:4:1131:33582:87 1/1:-3456.13,-444.856,0:1539:4:1507:43957:113 1/1:-2049.68,-271.047,0:926:3:911:26699:89 1/1:-2336.57,-297.251,0:1012:2:997:29629:46 1/1:-1879.54,-234.928,0:814:4:798:24265:87 1/1:-2959.67,-370.058,0:1270:3:1246:37780:99 1/1:-2261.89,-293.466,0:988:1:976:29197:14 1/1:-2604.92,-335.035,0:1146:2:1119:33271:57 0/1:-886.841,0,-849.909:1026:496:499:14928:13997 1/1:-2848.93,-352.161,0:1217:5:1194:35897:118 1/1:-2531.89,-329.122,0:1133:3:1102:32545:55 1/1:-2410.08,-316.527,0:1091:3:1063:31269:49 1/1:-1349.56,-173.87,0:602:1:586:17281:32 1/1:-2080.77,-267.86,0:904:1:893:26551:14 1/1:-2832.62,-364.368,0:1246:5:1226:36299:110 1/1:-2636.6,-331.665,0:1123:3:1109:33405:42 1/1:-2079.73,-280.074,0:972:2:946:27931:72 . 1/1:-3118.24,-395.421,0:1338:2:1326:39688:50 1/1:-1740.48,-229.112,0:792:3:773:23342:64 1/1:-1989.41,-248.939,0:865:3:851:25794:91 1/1:-2675.22,-343.154,0:1158:1:1143:34014:14 1/1:-1374,-182.659,0:645:3:629:18445:86 1/1:-1881.82,-232.973,0:819:4:800:24501:120 1/1:-2851.58,-367.378,0:1254:2:1231:36474:57 1/1:-1509.29,-197.894,0:692:4:670:19766:56 0/1:-1189.2,0,-1057.17:1401:662:687:20847:18482 1/1:-2496.69,-322.403,0:1092:0:1071:31639:0 1/1:-1586.95,-211.129,0:732:2:717:20910:72 1/1:-2985.73,-367.501,0:1298:8:1275:38227:212 1/1:-2592.29,-338.317,0:1144:3:1125:33215:84 1/1:-1338.22,-171.364,0:612:6:597:17455:124 0/1:-895.878,0,-940.28:1126:555:533:15861:15604 1/1:-2333.11,-288.857,0:1035:7:1007:29914:186 1/1:-2405.45,-307.727,0:1068:6:1045:31027:104 1/1:-2477.79,-309.347,0:1084:6:1060:31531:166 0/1:-1306.53,0,-1140.08:1418:664:715:21733:18836 1/1:-2748.8,-343.404,0:1172:2:1151:34802:41 1/1:-1354.29,-198.339,0:680:1:660:18469:14 1/1:-2015.43,-250.045,0:851:2:837:25213:28 1/1:-3006.06,-390.295,0:1348:6:1316:39093:115 1/1:-2802.73,-357.89,0:1258:9:1223:36258:183 1/1:-2817.02,-369.319,0:1259:3:1236:36330:42 1/1:-1647.16,-202.141,0:738:6:717:20995:181 1/1:-1489.83,-186.503,0:644:4:635:19383:78 1/1:-2573.98,-333.209,0:1147:4:1121:33255:70 1/1:-2772.09,-369.063,0:1257:0:1226:36179:0 1/1:-2653.59,-341.609,0:1184:7:1160:34466:150 1/1:-2391.02,-306.738,0:1043:1:1022:30349:14 1/1:-2195.86,-281.556,0:987:7:966:28959:142 0/1:-801.246,0,-901.713:1081:546:489:14471:15240 1/1:-1774.39,-223.853,0:766:2:750:22433:28 1/1:-2694.18,-350.436,0:1195:2:1167:34275:28 1/1:-1329.9,-169.469,0:580:1:566:16968:14 1/1:-2364.91,-305.082,0:1056:5:1029:30869:90 1/1:-3211.73,-405.934,0:1375:3:1361:40792:64 1/1:-2356.33,-304.656,0:1031:2:1013:30244:28 0/1:-1298.22,0,-1005.03:1414:645:724:21635:17834 0/1:-963.72,0,-1013.86:1244:638:558:16683:17769 0/1:-1012.01,0,-994.962:1238:604:593:17894:16919 . 0/1:-919.122,0,-979.545:950:478:453:14144:14667:478,453 1/1:-2272.86,-245.489,0:845:1:825:26495:36:1,825 1/1:-2539.11,-279.139,0:952:2:940:30056:50:2,940 1/1:-1470.45,-162.128,0:555:1:548:17145:36:1,548 1/1:-2322.71,-247.217,0:866:4:853:27242:122:4,853 1/1:-2346.37,-258.307,0:884:2:877:27531:72:2,877 1/1:-2231.4,-248.952,0:835:0:827:26170:0:0,827 1/1:-2419.23,-269.723,0:908:0:896:28416:0:0,896 1/1:-2241.73,-248.839,0:846:2:833:26406:28:2,833 1/1:-2328.47,-256.977,0:906:5:887:27670:141:5,887 1/1:-2524.66,-281.024,0:962:3:946:29889:64:3,946 1/1:-1815.42,-201.389,0:681:0:669:21162:0:0,669 1/1:-2106.21,-234.584,0:794:4:782:24793:76:4,782 1/1:-2098.54,-232.944,0:784:1:777:24731:14:1,777 1/1:-2334.56,-260.641,0:885:1:869:27251:14:1,869 1/1:-2291.39,-254.069,0:851:0:844:26927:0:0,844 1/1:-2389.1,-263.365,0:903:2:885:28148:41:2,885 1/1:-1969.82,-218.964,0:748:2:740:23352:50:2,740 1/1:-1819.54,-202.894,0:689:0:674:21193:0:0,674 1/1:-2239.14,-252.208,0:853:1:841:26321:14:1,841 chr11 128781800 . G T 2971.63 . AB=0.454724;ABP=12.0553;AC=1;AF=0.5;AN=2;AO=231;CIGAR=1X;DP=508;DPB=508;DPRA=0;EPP=3.0197;EPPR=3.41182;GTI=0;LEN=1;MEANALT=3;MQM=31.9567;MQMR=30.6868;NS=1;NUMALT=1;ODDS=684.244;PAIRED=0.969697;PAIREDR=0.969811;PAO=0;PQA=0;PQR=0;PRO=0;QA=6062;QR=7352;RO=265;RPL=103;RPP=8.8855;RPPR=5.37843;RPR=128;RUN=1;SAF=157;SAP=67.7691;SAR=74;SF=0;SRF=177;SRP=67.9168;SRR=88;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.G632T:p.R211L;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.92;MutationAssessor_pred=H;FATHMM_score=-3.69;FATHMM_pred=D;PROVEAN_score=-6.79;PROVEAN_pred=D;VEST3_score=0.932;CADD_raw=6.848;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=1.097;MetaSVM_pred=D;MetaLR_score=0.956;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.46;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=19.305;GDI_full_10282015=.;dpsi_max_tissue=0.9673;dpsi_zscore=1.501;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-312.136,0,-393.869:508:265:231:6062:7352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr11 128781978 . T G 16441.40 . AB=0;ABP=0;AC=211;AF=1;AN=228;AO=782;CIGAR=1X;DP=102703;DPB=800;DPRA=0;EPP=72.3308;EPPR=16.0391;GTI=0;LEN=1;MEANALT=2;MQM=30.9476;MQMR=24.8333;NS=1;NUMALT=1;ODDS=1058.19;PAIRED=0.928389;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=20122;QR=84;RO=6;RPL=371;RPP=7.45321;RPPR=8.80089;RPR=411;RUN=1;SAF=453;SAP=45.7067;SAR=329;SF=0,1;SRF=1;SRP=8.80089;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T810G:p.L270L;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.8427;esp6500siv2_ea=0.8216;esp6500siv2_all=0.8427;esp6500siv2_ea=0.8216;1000g2015aug_all=0.866214;avsnp147=rs7118824;Kaviar_AF=0.829368;Kaviar_AC=128222;Kaviar_AN=154602;ExAC_ALL=0.8414;ExAC_AFR=0.8897;ExAC_AMR=0.8056;ExAC_EAS=0.8791;ExAC_FIN=0.7893;ExAC_NFE=0.8277;ExAC_OTH=0.8234;ExAC_SAS=0.8940;CLNALLELEID=141694;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0084;dpsi_zscore=-0.026;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8381;gnomAD_exome_AFR=0.8941;gnomAD_exome_AMR=0.8135;gnomAD_exome_ASJ=0.8465;gnomAD_exome_EAS=0.8800;gnomAD_exome_FIN=0.7928;gnomAD_exome_NFE=0.8250;gnomAD_exome_OTH=0.8357;gnomAD_exome_SAS=0.8909;gnomAD_genome_ALL=0.8424;gnomAD_genome_AFR=0.8930;gnomAD_genome_AMR=0.8150;gnomAD_genome_ASJ=0.8167;gnomAD_genome_EAS=0.8912;gnomAD_genome_FIN=0.7990;gnomAD_genome_NFE=0.8212;gnomAD_genome_OTH=0.8203;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 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T C 18763.71 . AB=0;ABP=0;AC=211;AF=1;AN=228;AO=866;CIGAR=1X;DP=114845;DPB=893;DPRA=0;EPP=169.918;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=31.9469;MQMR=19.25;NS=1;NUMALT=1;ODDS=1181.15;PAIRED=0.927252;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=23305;QR=56;RO=4;RPL=331;RPP=107.361;RPPR=5.18177;RPR=535;RUN=1;SAF=451;SAP=6.25999;SAR=415;SF=0,1;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T834C:p.H278H;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.8440;esp6500siv2_ea=0.8216;esp6500siv2_all=0.8440;esp6500siv2_ea=0.8216;1000g2015aug_all=0.867013;avsnp147=rs7118833;Kaviar_AF=0.822868;Kaviar_AC=127217;Kaviar_AN=154602;ExAC_ALL=0.8416;ExAC_AFR=0.8925;ExAC_AMR=0.8054;ExAC_EAS=0.8790;ExAC_FIN=0.7895;ExAC_NFE=0.8276;ExAC_OTH=0.8227;ExAC_SAS=0.8941;CLNALLELEID=141695;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0795;dpsi_zscore=0.416;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8383;gnomAD_exome_AFR=0.8973;gnomAD_exome_AMR=0.8135;gnomAD_exome_ASJ=0.8464;gnomAD_exome_EAS=0.8799;gnomAD_exome_FIN=0.7930;gnomAD_exome_NFE=0.8248;gnomAD_exome_OTH=0.8361;gnomAD_exome_SAS=0.8911;gnomAD_genome_ALL=0.8435;gnomAD_genome_AFR=0.8970;gnomAD_genome_AMR=0.8182;gnomAD_genome_ASJ=0.8167;gnomAD_genome_EAS=0.8912;gnomAD_genome_FIN=0.7991;gnomAD_genome_NFE=0.8211;gnomAD_genome_OTH=0.8193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 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1/1:-2411.52,-281.312,0:970:5:948:28619:105:5,948 1/1:-2960.88,-353,0:1204:2:1179:35196:28:2,1179 1/1:-2591.19,-311.493,0:1061:2:1041:30641:28:2,1041 1/1:-2724.38,-318.425,0:1108:4:1077:32500:96:4,1077 1/1:-2361.95,-276.346,0:935:0:918:27656:0:0,918 1/1:-2105.79,-245.019,0:843:2:833:24959:72:2,833 1/1:-2942.22,-345.733,0:1178:3:1160:34889:49:3,1160 chr11 128782012 . C G 21437.08 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=865;CIGAR=1X;DP=116152;DPB=888;DPRA=0;EPP=209.787;EPPR=18.2106;GTI=0;LEN=1;MEANALT=2;MQM=32.178;MQMR=31;NS=1;NUMALT=1;ODDS=1161.48;PAIRED=0.930636;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24013;QR=98;RO=7;RPL=313;RPP=146.405;RPPR=5.80219;RPR=552;RUN=1;SAF=426;SAP=3.43455;SAR=439;SF=0,1;SRF=5;SRP=5.80219;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C844G:p.Q282E;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.9871;esp6500siv2_ea=0.9820;esp6500siv2_all=0.9871;esp6500siv2_ea=0.9820;1000g2015aug_all=0.995008;avsnp147=rs7102584;Kaviar_AF=0.967031;Kaviar_AC=149505;Kaviar_AN=154602;ExAC_ALL=0.9865;ExAC_AFR=0.9976;ExAC_AMR=0.9975;ExAC_EAS=1;ExAC_FIN=0.9761;ExAC_NFE=0.9791;ExAC_OTH=0.9912;ExAC_SAS=0.9986;CLNALLELEID=141696;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=-1.825;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=1.15;PROVEAN_pred=N;VEST3_score=0.022;CADD_raw=0.157;CADD_phred=4.219;DANN_score=0.396;fathmm-MKL_coding_score=0.294;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.907;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.46;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=0.136;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=16.452;GDI_full_10282015=.;dpsi_max_tissue=0.1213;dpsi_zscore=0.545;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM141559#"Altered_channel_function";gnomAD_exome_ALL=0.9877;gnomAD_exome_AFR=0.9976;gnomAD_exome_AMR=0.9972;gnomAD_exome_ASJ=0.9978;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9792;gnomAD_exome_NFE=0.9792;gnomAD_exome_OTH=0.9880;gnomAD_exome_SAS=0.9983;gnomAD_genome_ALL=0.9849;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9728;gnomAD_genome_NFE=0.9776;gnomAD_genome_OTH=0.9805;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1826.05,-253.821,0:888:7:865:24013:98 1/1:-2578.52,-346.019,0:1203:9:1181:32510:157 1/1:-1972.7,-271.142,0:929:4:906:25247:56 1/1:-1164.93,-169.219,0:583:4:568:15414:69 1/1:-1904.58,-271.237,0:955:10:925:24988:153 1/1:-2801.16,-383.565,0:1327:6:1287:35883:84 1/1:-2008.89,-286.53,0:987:5:962:26318:70 1/1:-2250.48,-301.122,0:1052:9:1021:28660:126 1/1:-1846.9,-243.981,0:879:13:849:23636:237 1/1:-2287.37,-327.414,0:1140:9:1105:30205:126 1/1:-2018.79,-269.029,0:953:11:925:25825:199 1/1:-2066.93,-271.792,0:948:8:924:25800:112 1/1:-1893.79,-271.977,0:942:5:917:24730:70 1/1:-1632.19,-236.783,0:834:5:807:21606:95 1/1:-1647.85,-222.003,0:776:4:746:20491:56 1/1:-3203.79,-425.133,0:1506:21:1462:40714:312 1/1:-1787.31,-244.209,0:865:11:838:23266:167 1/1:-4367.06,-576.615,0:2015:13:1958:55150:215 1/1:-2219.16,-297.448,0:1027:6:997:27997:109 1/1:-1523.21,-211.195,0:732:6:712:19306:97 1/1:-1676.82,-234.67,0:818:3:789:21579:42 1/1:-2370.39,-321.226,0:1136:10:1097:29995:153 1/1:-1227.99,-174.619,0:612:5:592:16072:99 1/1:-2735.48,-366.434,0:1264:6:1236:34480:84 1/1:-2506.05,-333.544,0:1159:9:1131:31044:126 1/1:-1462.21,-209.404,0:722:2:702:19094:28 1/1:-2047.49,-284.947,0:981:6:958:25501:84 1/1:-2041.3,-274.147,0:972:10:939:25986:153 1/1:-1619.58,-227.767,0:819:10:787:21525:154 1/1:-1672.73,-229.966,0:816:10:791:21607:176 1/1:-1630.4,-225.35,0:796:7:770:21036:120 1/1:-2577.53,-353.399,0:1226:8:1191:32980:130 1/1:-2575.25,-342.691,0:1203:10:1169:31834:180 1/1:-2246.51,-303.697,0:1082:13:1043:28812:217 1/1:-2315.86,-314.792,0:1082:5:1058:29805:70 1/1:-2477.16,-342.585,0:1189:8:1157:31926:112 1/1:-2819.3,-387.547,0:1346:9:1310:35941:126 1/1:-2192.28,-291.848,0:1024:12:998:28194:197 1/1:-2007.16,-279.983,0:981:7:946:25996:98 1/1:-1359.5,-187.24,0:644:4:631:17137:63 1/1:-2549.41,-338.488,0:1179:6:1139:32367:84 1/1:-2101.01,-289.396,0:1006:9:977:27171:144 1/1:-2348.71,-308.661,0:1077:8:1043:29874:130 1/1:-2110.35,-285.894,0:979:3:959:26543:42 1/1:-2669.65,-370.367,0:1275:6:1247:34366:84 1/1:-2326.34,-329.297,0:1144:8:1115:30032:112 1/1:-2066.26,-281.383,0:1004:12:968:26186:217 1/1:-1276.92,-173.196,0:589:2:575:15951:28 1/1:-1656.64,-217.275,0:760:7:740:21036:105 1/1:-2440.21,-332.228,0:1158:11:1130:31592:154 1/1:-2507.88,-346.096,0:1181:3:1159:31873:42 1/1:-1876.61,-267.853,0:948:11:922:24999:190 1/1:-2824.19,-368.531,0:1284:6:1241:34483:84 1/1:-2815.33,-381.338,0:1318:8:1283:35691:125 1/1:-1439.53,-200.827,0:711:7:685:18979:98 1/1:-1670.81,-218.902,0:775:10:753:21090:140 1/1:-2348.32,-322.065,0:1137:9:1096:29998:133 1/1:-1060.94,-150.843,0:532:5:513:14139:77 1/1:-1468.29,-202.731,0:698:4:684:18937:56 1/1:-2255.95,-307.077,0:1087:13:1053:28779:200 1/1:-1206.26,-177.013,0:618:6:600:16167:84 1/1:-2831.41,-382.588,0:1329:7:1295:35235:111 1/1:-1987.2,-264.305,0:919:7:894:24962:136 1/1:-1356.46,-196.04,0:686:5:665:18168:70 1/1:-2735.81,-370.001,0:1277:8:1247:35094:112 1/1:-2192,-294.946,0:1045:9:1011:28207:157 1/1:-1175.86,-170.111,0:604:7:583:15928:105 1/1:-2151.09,-283.168,0:973:4:948:26552:56 1/1:-2029.38,-274.165,0:967:11:934:26042:161 1/1:-2248.23,-309.993,0:1074:7:1040:28931:138 1/1:-2144.81,-293.936,0:1026:9:999:27623:182 1/1:-3029.26,-387.37,0:1352:8:1315:37275:141 1/1:-2597.12,-351.772,0:1223:8:1188:33077:112 1/1:-1181.16,-182.075,0:646:6:622:16269:98 1/1:-1887.8,-254.407,0:891:8:863:24041:125 1/1:-2323.5,-322.139,0:1119:10:1091:29886:153 1/1:-2220,-299.776,0:1043:6:1013:28434:120 1/1:-2489.17,-334.462,0:1169:10:1138:31786:165 1/1:-1473.48,-197.539,0:697:9:682:18840:126 1/1:-1095.2,-154.299,0:538:5:521:14101:83 1/1:-2277.64,-320.827,0:1134:12:1096:29921:181 1/1:-2371.41,-325.979,0:1128:7:1107:30664:111 1/1:-2450.66,-345.456,0:1181:4:1158:31575:56 1/1:-2051.53,-287.674,0:1004:10:975:26907:165 1/1:-1762.75,-243.738,0:879:12:841:23007:194 1/1:-2016.71,-269.894,0:945:12:920:25213:190 1/1:-1481.93,-208.251,0:734:10:717:19567:140 1/1:-2207.42,-294.159,0:1056:13:1015:27993:204 1/1:-1342.76,-183.435,0:635:5:619:17159:70 1/1:-2143.21,-301.036,0:1040:8:1015:27654:112 1/1:-2758.13,-378.218,0:1326:12:1292:35609:195 1/1:-1965.95,-280.322,0:978:9:957:25872:126 1/1:-2951.52,-387.198,0:1340:8:1308:36797:170 1/1:-2502.82,-324.013,0:1147:11:1109:31053:167 1/1:-2588.28,-346.387,0:1204:8:1167:32548:112 . 1/1:-3199.39,-368.113,0:1279:5:1248:37579:110:5,1248 1/1:-2545.26,-304.321,0:1039:1:1014:30555:14:1,1014 1/1:-2757.85,-321.046,0:1090:2:1071:32542:35:2,1071 1/1:-1561.6,-188.035,0:642:2:631:18627:28:2,631 1/1:-2464.74,-288.577,0:979:2:965:29409:28:2,965 1/1:-3032.32,-354.805,0:1208:5:1189:36084:70:5,1189 1/1:-2488.38,-294.827,0:1021:7:996:29806:98:7,996 1/1:-2952.76,-348.841,0:1173:1:1162:35171:14:1,1162 1/1:-2561.56,-298.178,0:1015:4:999:30393:56:4,999 1/1:-2837.3,-334.095,0:1142:6:1122:33873:84:6,1122 1/1:-2953.96,-343.421,0:1176:6:1156:34980:84:6,1156 1/1:-2188.32,-250.512,0:871:4:850:25812:74:4,850 1/1:-2488.37,-288.715,0:1000:4:974:29676:69:4,974 1/1:-2402.96,-282.216,0:977:8:956:28605:125:8,956 1/1:-3018.97,-357.943,0:1223:5:1201:35902:83:5,1201 1/1:-2656.74,-312.361,0:1067:2:1044:31493:28:2,1044 1/1:-2750.32,-320.37,0:1100:4:1073:32712:74:4,1073 1/1:-2353.02,-272.355,0:936:4:917:27718:56:4,917 1/1:-2099.89,-247.264,0:850:4:834:24899:56:4,834 1/1:-2921.12,-346.144,0:1182:1:1151:34654:14:1,1151 chr11 128782112 . C T 4256.02 . AB=0.475248;ABP=5.69777;AC=2;AF=0.5;AN=4;AO=240;CIGAR=1X;DP=1652;DPB=505;DPRA=0;EPP=3.33602;EPPR=3.23008;GTI=0;LEN=1;MEANALT=3;MQM=32.75;MQMR=35.6316;NS=1;NUMALT=1;ODDS=737.521;PAIRED=0.929167;PAIREDR=0.967611;PAO=0;PQA=0;PQR=0;PRO=0;QA=6086;QR=7702;RO=247;RPL=140;RPP=17.4868;RPPR=20.8129;RPR=100;RUN=1;SAF=91;SAP=33.4471;SAR=149;SF=0,1;SRF=98;SRP=25.8767;SRR=149;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.0591;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0591;esp6500siv2_ea=0.0083;1000g2015aug_all=0.076278;avsnp147=rs45516097;Kaviar_AF=0.0296827;Kaviar_AC=4589;Kaviar_AN=154602;ExAC_ALL=0.0306;ExAC_AFR=0.1790;ExAC_AMR=0.0208;ExAC_EAS=0.0879;ExAC_FIN=0.0077;ExAC_NFE=0.0110;ExAC_OTH=0.0283;ExAC_SAS=0.0060;CLNALLELEID=141697;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2217;dpsi_zscore=-0.728;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0294;gnomAD_exome_AFR=0.1850;gnomAD_exome_AMR=0.0222;gnomAD_exome_ASJ=0.0156;gnomAD_exome_EAS=0.0919;gnomAD_exome_FIN=0.0072;gnomAD_exome_NFE=0.0100;gnomAD_exome_OTH=0.0326;gnomAD_exome_SAS=0.0079;gnomAD_genome_ALL=0.0612;gnomAD_genome_AFR=0.1765;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.1;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0073;gnomAD_genome_OTH=0.0285;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-332.173,0,-460.712:505:247:240:6086:7702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-954.844,0,-1304.19:1147:605:514:15226:19304:605,514 . . . . . . . . . . . . . . chr11 128786294 . G A 4602.55 . AB=0.472656;ABP=4.67283;AC=189;AF=0.5;AN=224;AO=121;CIGAR=1X;DP=33910;DPB=256;DPRA=0;EPP=6.04318;EPPR=3.87536;GTI=0;LEN=1;MEANALT=3;MQM=29.6694;MQMR=32.6504;NS=1;NUMALT=1;ODDS=316.37;PAIRED=0.793388;PAIREDR=0.869919;PAO=0;PQA=0;PQR=0;PRO=0;QA=3097;QR=3649;RO=123;RPL=31;RPP=65.4805;RPPR=130.562;RPR=90;RUN=1;SAF=85;SAP=46.0988;SAR=36;SF=0,1;SRF=84;SRP=38.7602;SRR=39;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.7478;esp6500siv2_ea=0.7279;esp6500siv2_all=0.7478;esp6500siv2_ea=0.7279;1000g2015aug_all=0.735823;avsnp147=rs4937391;Kaviar_AF=0.724635;Kaviar_AC=112030;Kaviar_AN=154602;ExAC_ALL=0.7346;ExAC_AFR=0.7904;ExAC_AMR=0.6993;ExAC_EAS=0.6672;ExAC_FIN=0.6839;ExAC_NFE=0.7338;ExAC_OTH=0.7307;ExAC_SAS=0.7833;CLNALLELEID=141698;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7310;gnomAD_exome_AFR=0.7927;gnomAD_exome_AMR=0.7094;gnomAD_exome_ASJ=0.7615;gnomAD_exome_EAS=0.6637;gnomAD_exome_FIN=0.6840;gnomAD_exome_NFE=0.7323;gnomAD_exome_OTH=0.7409;gnomAD_exome_SAS=0.7798;gnomAD_genome_ALL=0.7394;gnomAD_genome_AFR=0.7966;gnomAD_genome_AMR=0.7022;gnomAD_genome_ASJ=0.7219;gnomAD_genome_EAS=0.6720;gnomAD_genome_FIN=0.6878;gnomAD_genome_NFE=0.7287;gnomAD_genome_OTH=0.7274;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-154.576,0,-206.934:256:123:121:3097:3649 0/1:-283.201,0,-272.182:398:175:185:5123:5149 1/1:-565.822,-82.876,0:295:3:283:7538:62 1/1:-437.159,-61.4101,0:218:0:204:5680:0 1/1:-658.917,-96.3296,0:342:0:320:8679:0 1/1:-796.998,-104.113,0:384:6:368:10356:164 1/1:-507.068,-77.1985,0:274:2:268:7100:63 0/1:-228.801,0,-255.555:349:162:164:4395:4497 1/1:-498.548,-71.5489,0:250:1:239:6305:21 1/1:-596.821,-82.0499,0:316:4:298:8083:113 0/1:-204.066,0,-198.194:269:120:141:3723:3495 0/1:-184.557,0,-267.359:319:172:132:3639:4909 . 1/1:-415.362,-60.507,0:214:0:201:5562:0 0/1:-159.395,0,-131.707:225:97:113:2976:2737 1/1:-857.706,-119.533,0:428:4:408:11154:95 . 0/1:-399.648,0,-469.269:574:278:274:7366:7997 1/1:-516.51,-70.8787,0:248:3:241:6724:60 0/1:-143.23,0,-161.006:219:107:104:2813:2962 1/1:-385.425,-50.6382,0:180:1:174:4959:32 1/1:-733.588,-105.77,0:386:5:366:9819:88 1/1:-259.88,-38.2308,0:135:0:127:3469:0 1/1:-695.365,-96.833,0:354:3:335:9122:104 0/1:-288.311,0,-267.128:386:180:188:5250:5042 1/1:-409.746,-58.619,0:236:5:223:5956:153 0/1:-230.26,0,-281.827:324:156:151:4161:4766 1/1:-658.651,-87.6969,0:314:2:303:8466:46 1/1:-471.268,-68.3083,0:264:4:243:6378:122 1/1:-480.922,-67.4307,0:233:0:224:6177:0 1/1:-481.475,-67.9764,0:238:2:227:6207:48 1/1:-668.002,-91.4273,0:345:5:326:8868:125 0/1:-210.498,0,-268.437:352:172:162:4351:4756 1/1:-645.782,-91.2121,0:317:0:303:8450:0 1/1:-572.664,-79.9237,0:288:3:273:7303:42 1/1:-673.331,-99.3399,0:343:0:330:8998:0 1/1:-880.219,-129.019,0:457:1:437:11706:32 1/1:-606.114,-87.8791,0:311:2:299:7824:53 1/1:-564.662,-82.7833,0:282:0:275:7375:0 1/1:-499.614,-70.441,0:244:0:234:6566:0 1/1:-605.688,-87.2257,0:308:2:291:7963:48 1/1:-650.886,-92.0374,0:328:2:312:8601:28 1/1:-554.242,-78.1851,0:273:2:262:7540:28 0/1:-187.422,0,-203.419:267:124:133:3497:3526 1/1:-694.172,-96.2272,0:348:4:332:9065:56 1/1:-757.6,-105.851,0:379:2:356:9972:35 1/1:-634.218,-95.0291,0:338:3:320:8570:67 0/1:-132.36,0,-102.911:177:75:93:2420:2125 1/1:-443.247,-65.9256,0:229:0:219:5923:0 1/1:-722.612,-104.457,0:361:0:347:9531:0 0/1:-198.324,0,-252.819:318:160:140:3938:4617 1/1:-488.817,-68.1897,0:271:6:251:7044:171 . 1/1:-689.147,-98.3277,0:358:3:334:9112:42 1/1:-400.03,-53.0108,0:201:2:195:5409:72 0/1:-227.747,0,-141.555:249:103:135:3737:2731 1/1:-784.978,-109.821,0:392:3:375:10254:60 0/1:-98.2733,0,-96.9035:153:68:73:1875:1946 0/1:-165.848,0,-217.951:249:128:115:3188:3831 1/1:-690.533,-97.3263,0:343:3:333:9090:73 1/1:-321.987,-48.0236,0:180:1:165:4457:27 0/1:-288.678,0,-351.722:418:207:193:5268:6007 1/1:-603.427,-87.2987,0:307:0:290:7922:0 1/1:-398.438,-56.8224,0:212:2:198:5471:63 1/1:-758.688,-100.645,0:395:5:366:10107:149 1/1:-590.457,-87.5002,0:320:4:300:7773:81 1/1:-336.538,-46.1408,0:171:2:162:4370:41 0/1:-274.08,0,-278.693:381:186:179:5002:5337 1/1:-623.546,-88.5642,0:315:2:303:8405:46 0/1:-197.573,0,-298.47:348:195:144:3906:5554 0/1:-229.958,0,-184.387:299:128:152:4171:3512 0/1:-296.554,0,-304.239:428:201:196:5356:5693 1/1:-759.745,-98.6518,0:359:3:346:9586:77 1/1:-430.717,-62.6356,0:249:5:231:5932:127 1/1:-472.893,-70.2278,0:254:2:239:6304:72 1/1:-733.547,-101.202,0:395:7:374:10192:163 1/1:-792.064,-106.54,0:402:5:384:10625:119 1/1:-688.218,-97.8315,0:348:1:331:9151:32 1/1:-422.059,-55.3466,0:218:3:203:5560:82 1/1:-293.851,-39.8549,0:149:2:144:3907:46 0/1:-167.334,0,-243.34:307:153:134:3741:4240 1/1:-842.545,-111.57,0:412:4:390:10970:107 1/1:-647.209,-94.4531,0:338:3:318:8474:49 1/1:-491.58,-71.9818,0:270:2:257:6852:68 0/1:-215.948,0,-180.807:294:131:151:4101:3741 0/1:-194.133,0,-210.771:285:137:136:3761:3814 1/1:-509.473,-71.3677,0:251:3:243:6724:55 1/1:-602.697,-89.0081,0:320:2:300:8043:28 1/1:-371.521,-51.4761,0:180:0:171:4940:0 0/1:-224.456,0,-208.737:297:133:151:4032:3805 0/1:-333.026,0,-276.026:444:190:230:6249:5334 0/1:-201.657,0,-198.85:277:130:135:3806:3657 0/1:-268.319,0,-288.397:384:172:187:5045:5011 0/1:-240.387,0,-269.225:353:173:165:4370:4954 0/1:-290.246,0,-244.891:362:161:187:5144:4436 . 0/1:-357.383,0,-257.047:322:138:180:5470:4139:138,180 1/1:-781.64,-90.3989,0:308:1:305:9471:21:1,305 1/1:-950.381,-108.067,0:378:2:371:11468:72:2,371 1/1:-562.456,-63.8184,0:216:0:212:6728:0:0,212 1/1:-731.663,-84.8352,0:288:1:285:8737:14:1,285 1/1:-840.411,-94.6197,0:349:3:343:10381:108:3,343 0/1:-321.021,0,-242.326:300:134:157:4805:3912:134,157 0/1:-248.833,0,-346.069:312:168:137:4118:5146:168,137 1/1:-677.142,-79.4719,0:268:0:264:8107:0:0,264 1/1:-792.732,-92.4162,0:311:0:307:9588:0:0,307 1/1:-938.043,-107.121,0:394:4:380:11569:96:4,380 1/1:-616.859,-73.7524,0:251:0:245:7416:0:0,245 1/1:-741.771,-86.1821,0:299:1:296:8970:36:1,296 1/1:-720.449,-82.5549,0:294:2:287:8736:50:2,287 1/1:-577.609,-62.7512,0:231:2:225:6930:63:2,225 1/1:-707.299,-80.8194,0:281:2:278:8552:50:2,278 1/1:-736.165,-91.1753,0:313:1:304:8923:14:1,304 1/1:-616.184,-74.3544,0:251:0:247:7368:0:0,247 1/1:-714.004,-81.3674,0:283:1:280:8564:36:1,280 0/1:-259.299,0,-212.156:230:104:123:3828:3331:104,123 chr12 2224449 . G A 4791.19 . AB=0.377475;ABP=108.37;AC=3;AF=0.5;AN=6;AO=305;CIGAR=1X;DP=2519;DPB=808;DPRA=0;EPP=34.9701;EPPR=6.37124;GTI=0;LEN=1;MEANALT=3;MQM=32.482;MQMR=35.6348;NS=1;NUMALT=1;ODDS=892.617;PAIRED=0.918033;PAIREDR=0.942675;PAO=0;PQA=0;PQR=0;PRO=0;QA=8509;QR=14470;RO=471;RPL=176;RPP=18.7375;RPPR=9.32186;RPR=129;RUN=1;SAF=164;SAP=6.77656;SAR=141;SF=0;SRF=243;SRP=4.04763;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon2:c.G109A:p.G37R,CACNA1C:NM_001129827:exon2:c.G109A:p.G37R,CACNA1C:NM_001129829:exon2:c.G109A:p.G37R,CACNA1C:NM_001129830:exon2:c.G109A:p.G37R,CACNA1C:NM_001129831:exon2:c.G109A:p.G37R,CACNA1C:NM_001129832:exon2:c.G109A:p.G37R,CACNA1C:NM_001129833:exon2:c.G109A:p.G37R,CACNA1C:NM_001129834:exon2:c.G109A:p.G37R,CACNA1C:NM_001129835:exon2:c.G109A:p.G37R,CACNA1C:NM_001129836:exon2:c.G109A:p.G37R,CACNA1C:NM_001129837:exon2:c.G109A:p.G37R,CACNA1C:NM_001129838:exon2:c.G109A:p.G37R,CACNA1C:NM_001129839:exon2:c.G109A:p.G37R,CACNA1C:NM_001129840:exon2:c.G109A:p.G37R,CACNA1C:NM_001129841:exon2:c.G109A:p.G37R,CACNA1C:NM_001129842:exon2:c.G109A:p.G37R,CACNA1C:NM_001129843:exon2:c.G109A:p.G37R,CACNA1C:NM_001129844:exon2:c.G109A:p.G37R,CACNA1C:NM_001129846:exon2:c.G109A:p.G37R,CACNA1C:NM_001167623:exon2:c.G109A:p.G37R,CACNA1C:NM_001167624:exon2:c.G109A:p.G37R,CACNA1C:NM_001167625:exon2:c.G109A:p.G37R,CACNA1C:NM_199460:exon2:c.G109A:p.G37R;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0032;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0032;1000g2015aug_all=0.000399361;avsnp147=rs34534613;Kaviar_AF=0.0031112;Kaviar_AC=481;Kaviar_AN=154602;ExAC_ALL=0.0074;ExAC_AFR=0.0012;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0138;ExAC_NFE=0.0117;ExAC_OTH=0.0085;ExAC_SAS=0.0003;CLNALLELEID=99298;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.135;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.525;MutationAssessor_pred=L;FATHMM_score=-3.66;FATHMM_pred=D;PROVEAN_score=-2.8;PROVEAN_pred=D;VEST3_score=0.88;CADD_raw=4.638;CADD_phred=24.5;DANN_score=0.999;fathmm-MKL_coding_score=0.999;fathmm-MKL_coding_pred=D;MetaSVM_score=0.998;MetaSVM_pred=D;MetaLR_score=0.903;MetaLR_pred=D;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=5.77;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.974;phastCons7way_vertebrate=0.874;phastCons20way_mammalian=0.104;SiPhy_29way_logOdds=19.979;GDI_full_10282015=.;dpsi_max_tissue=1.2317;dpsi_zscore=1.652;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1511257#"Sudden_arrhythmic_death_syndrome";gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0079;gnomAD_exome_NFE=0.0054;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0046;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0152;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-408.145,0,-916.593:808:471:305:8509:14470 . . . . . . . . . . . . . . . . 0/1:-427.298,0,-684.445:759:406:316:8763:12243 . . . . . . . . . . . . . . . . . . . 0/1:-651.508,0,-815.243:952:467:440:12328:14149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2224511 . C T 7833.09 . AB=0.469314;ABP=14.338;AC=8;AF=0.5;AN=16;AO=650;CIGAR=1X;DP=9138;DPB=1385;DPRA=0;EPP=4.0927;EPPR=3.03943;GTI=0;LEN=1;MEANALT=3;MQM=31.4908;MQMR=33.1252;NS=1;NUMALT=1;ODDS=1910.9;PAIRED=0.956923;PAIREDR=0.919523;PAO=0;PQA=0;PQR=0;PRO=0;QA=16560;QR=20750;RO=671;RPL=252;RPP=74.2212;RPPR=184.783;RPR=398;RUN=1;SAF=384;SAP=49.5266;SAR=266;SF=0,1;SRF=360;SRP=10.7804;SRR=311;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon2:c.C171T:p.D57D,CACNA1C:NM_001129827:exon2:c.C171T:p.D57D,CACNA1C:NM_001129829:exon2:c.C171T:p.D57D,CACNA1C:NM_001129830:exon2:c.C171T:p.D57D,CACNA1C:NM_001129831:exon2:c.C171T:p.D57D,CACNA1C:NM_001129832:exon2:c.C171T:p.D57D,CACNA1C:NM_001129833:exon2:c.C171T:p.D57D,CACNA1C:NM_001129834:exon2:c.C171T:p.D57D,CACNA1C:NM_001129835:exon2:c.C171T:p.D57D,CACNA1C:NM_001129836:exon2:c.C171T:p.D57D,CACNA1C:NM_001129837:exon2:c.C171T:p.D57D,CACNA1C:NM_001129838:exon2:c.C171T:p.D57D,CACNA1C:NM_001129839:exon2:c.C171T:p.D57D,CACNA1C:NM_001129840:exon2:c.C171T:p.D57D,CACNA1C:NM_001129841:exon2:c.C171T:p.D57D,CACNA1C:NM_001129842:exon2:c.C171T:p.D57D,CACNA1C:NM_001129843:exon2:c.C171T:p.D57D,CACNA1C:NM_001129844:exon2:c.C171T:p.D57D,CACNA1C:NM_001129846:exon2:c.C171T:p.D57D,CACNA1C:NM_001167623:exon2:c.C171T:p.D57D,CACNA1C:NM_001167624:exon2:c.C171T:p.D57D,CACNA1C:NM_001167625:exon2:c.C171T:p.D57D,CACNA1C:NM_199460:exon2:c.C171T:p.D57D;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0172;esp6500siv2_ea=0.0235;esp6500siv2_all=0.0172;esp6500siv2_ea=0.0235;1000g2015aug_all=0.0117812;avsnp147=rs34419050;Kaviar_AF=0.0177165;Kaviar_AC=2739;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.0050;ExAC_AMR=0.0148;ExAC_EAS=0;ExAC_FIN=0.0156;ExAC_NFE=0.0383;ExAC_OTH=0.0258;ExAC_SAS=0.0433;CLNALLELEID=44431;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9557;dpsi_zscore=-1.445;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0206;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0089;gnomAD_exome_ASJ=0.0194;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0116;gnomAD_exome_NFE=0.0265;gnomAD_exome_OTH=0.0178;gnomAD_exome_SAS=0.0372;gnomAD_genome_ALL=0.0138;gnomAD_genome_AFR=0.0042;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0167;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0218;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-850.089,0,-1152.17:1385:671:650:16560:20750 . . . . . 0/1:-921.542,0,-1124.41:1393:681:660:17716:20674 . . . . . . 0/1:-574.351,0,-751.497:890:432:417:11032:13491 . . . . 0/1:-578.468,0,-692.249:869:422:421:11300:12894 . . . 0/1:-1025.32,0,-1346.37:1539:774:703:19143:24036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-711.815,0,-794.439:957:454:464:13056:13984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-640.497,0,-943.353:1057:548:463:12480:16913 . . . . . . . . . 0/1:-1067.33,0,-1029.19:1048:495:536:16253:15674:495,536 . . . . . . . . . . . . . . . . chr12 2229476 . G A 5002.01 . AB=0.493523;ABP=3.29158;AC=8;AF=0.5;AN=16;AO=381;CIGAR=1X;DP=4849;DPB=772;DPRA=0;EPP=75.786;EPPR=70.3848;GTI=0;LEN=1;MEANALT=3;MQM=39.9213;MQMR=39.6287;NS=1;NUMALT=1;ODDS=1581.92;PAIRED=0.992126;PAIREDR=0.97019;PAO=0;PQA=0;PQR=0;PRO=0;QA=10950;QR=10854;RO=369;RPL=167;RPP=15.6003;RPPR=37.901;RPR=214;RUN=1;SAF=231;SAP=40.4041;SAR=150;SF=0,1;SRF=207;SRP=14.9269;SRR=162;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0265;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0265;1000g2015aug_all=0.0253594;avsnp147=rs55792866;Kaviar_AF=0.0250061;Kaviar_AC=3866;Kaviar_AN=154602;ExAC_ALL=0.0255;ExAC_AFR=0.0463;ExAC_AMR=0.0127;ExAC_EAS=0;ExAC_FIN=0.0125;ExAC_NFE=0.0265;ExAC_OTH=0.0246;ExAC_SAS=0.0364;CLNALLELEID=44432;CLNDN=Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.7494;dpsi_zscore=-2.098;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0235;gnomAD_exome_AFR=0.0461;gnomAD_exome_AMR=0.0115;gnomAD_exome_ASJ=0.0221;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0121;gnomAD_exome_NFE=0.0266;gnomAD_exome_OTH=0.0188;gnomAD_exome_SAS=0.0370;gnomAD_genome_ALL=0.0266;gnomAD_genome_AFR=0.0493;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0219;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-719.328,0,-706.255:772:369:381:10950:10854 . . . . . 0/1:-579.253,0,-735.255:681:355:302:9054:10892 . . . . . . 0/1:-519.682,0,-603.618:596:299:278:8143:9045 . . . . 0/1:-419.481,0,-477.122:484:243:229:6659:7294 . . . 0/1:-675.786,0,-875.752:813:423:363:10596:12867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-461.8,0,-475.71:485:238:238:7051:7208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-508.408,0,-698.924:669:362:294:8249:10386 . . . . . . . . . 0/1:-342.361,0,-391.45:349:183:160:5094:5722:183,160 . . . . . . . . . . . . . . . . chr12 2558186 . G A 9114.94 . AB=0.516129;ABP=5.32187;AC=46;AF=0.5;AN=84;AO=528;CIGAR=1X;DP=37077;DPB=1023;DPRA=0;EPP=90.6753;EPPR=56.6714;GTI=0;LEN=1;MEANALT=3;MQM=37.9451;MQMR=39.3199;NS=1;NUMALT=1;ODDS=1984.23;PAIRED=0.971591;PAIREDR=0.976695;PAO=0;PQA=0;PQR=0;PRO=0;QA=15235;QR=13825;RO=472;RPL=268;RPP=3.27351;RPPR=23.0504;RPR=260;RUN=1;SAF=219;SAP=36.3227;SAR=309;SF=0,1;SRF=187;SRP=47.1942;SRR=285;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon4:c.G522A:p.A174A,CACNA1C:NM_001129827:exon4:c.G522A:p.A174A,CACNA1C:NM_001129829:exon4:c.G522A:p.A174A,CACNA1C:NM_001129830:exon4:c.G522A:p.A174A,CACNA1C:NM_001129831:exon4:c.G522A:p.A174A,CACNA1C:NM_001129832:exon4:c.G522A:p.A174A,CACNA1C:NM_001129833:exon4:c.G522A:p.A174A,CACNA1C:NM_001129834:exon4:c.G522A:p.A174A,CACNA1C:NM_001129835:exon4:c.G522A:p.A174A,CACNA1C:NM_001129836:exon4:c.G522A:p.A174A,CACNA1C:NM_001129837:exon4:c.G522A:p.A174A,CACNA1C:NM_001129838:exon4:c.G522A:p.A174A,CACNA1C:NM_001129839:exon4:c.G522A:p.A174A,CACNA1C:NM_001129840:exon4:c.G522A:p.A174A,CACNA1C:NM_001129841:exon4:c.G522A:p.A174A,CACNA1C:NM_001129842:exon4:c.G522A:p.A174A,CACNA1C:NM_001129843:exon4:c.G522A:p.A174A,CACNA1C:NM_001129844:exon4:c.G522A:p.A174A,CACNA1C:NM_001129846:exon4:c.G522A:p.A174A,CACNA1C:NM_001167623:exon4:c.G522A:p.A174A,CACNA1C:NM_001167624:exon4:c.G522A:p.A174A,CACNA1C:NM_001167625:exon4:c.G522A:p.A174A,CACNA1C:NM_199460:exon4:c.G522A:p.A174A;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.1757;esp6500siv2_ea=0.2146;esp6500siv2_all=0.1757;esp6500siv2_ea=0.2146;1000g2015aug_all=0.120407;avsnp147=rs1544514;Kaviar_AF=0.171744;Kaviar_AC=26552;Kaviar_AN=154602;ExAC_ALL=0.2074;ExAC_AFR=0.1088;ExAC_AMR=0.2049;ExAC_EAS=0.0810;ExAC_FIN=0.1936;ExAC_NFE=0.2489;ExAC_OTH=0.2493;ExAC_SAS=0.1691;CLNALLELEID=99319;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0104;dpsi_zscore=-0.040;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1762;gnomAD_exome_AFR=0.0942;gnomAD_exome_AMR=0.1568;gnomAD_exome_ASJ=0.2881;gnomAD_exome_EAS=0.0639;gnomAD_exome_FIN=0.1653;gnomAD_exome_NFE=0.2094;gnomAD_exome_OTH=0.2084;gnomAD_exome_SAS=0.1476;gnomAD_genome_ALL=0.1668;gnomAD_genome_AFR=0.1002;gnomAD_genome_AMR=0.1854;gnomAD_genome_ASJ=0.3245;gnomAD_genome_EAS=0.0531;gnomAD_genome_FIN=0.1691;gnomAD_genome_NFE=0.2123;gnomAD_genome_OTH=0.1792;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-990.001,0,-882.174:1023:472:528:15235:13825 . . . 0/1:-753.831,0,-601.804:769:344:413:11656:9922 . . 0/1:-734.898,0,-785.169:864:430:406:11900:12408 . . 0/1:-735.8,0,-631.427:773:354:407:11573:10368 . 0/1:-969.471,0,-1041.17:1102:543:534:15289:16066 . . 0/1:-893.85,0,-859.735:977:460:489:13759:13493 0/1:-617.121,0,-624.102:739:348:364:10141:10117 . . . 0/1:-730.064,0,-771.344:814:401:402:11694:11789 . 0/1:-1166.69,0,-1190.41:1274:610:633:18313:18353 . 0/1:-879.432,0,-833.557:968:456:490:13852:13084 1/1:-2408.8,-277.285,0:1027:11:1001:28759:321 . 0/1:-1050.06,0,-1009.12:1122:536:559:16419:15809 . . . 1/1:-2819.59,-337.838,0:1186:5:1155:33665:128 . . 0/1:-843.893,0,-882.287:957:463:471:13493:13860 . 0/1:-715.144,0,-878.315:903:464:419:11615:13370 . 0/1:-452.163,0,-474.503:522:255:253:7388:7525 . . . . . . . . 0/1:-916.1,0,-932.677:1044:496:519:14651:14699 . . 0/1:-828.119,0,-776.476:871:408:441:12737:12025 0/1:-624.567,0,-555.698:673:307:348:9808:9041 0/1:-1134.78,0,-896.999:1136:503:600:17362:14556 . . 0/1:-1213.68,0,-1073.6:1272:578:649:18725:16944 0/1:-953.176,0,-850.116:975:444:505:14546:13293 1/1:-1430.13,-164.248,0:628:11:608:17432:281 . 0/1:-833.017,0,-504.246:752:294:437:12591:8569 . . 0/1:-1227.21,0,-980.848:1185:521:642:18596:15502 0/1:-1001.19,0,-1033.71:1123:551:542:15920:16146 . 0/1:-799.101,0,-724.97:847:398:432:12613:11434 . 0/1:-1035.08,0,-962.184:1104:517:559:16088:15034 0/1:-1043.34,0,-1089.77:1176:569:576:16439:16978 0/1:-600.143,0,-605.594:657:322:320:9529:9471 . 0/1:-885.015,0,-892.484:1017:480:508:14288:14007 . . 0/1:-859.027,0,-850.571:940:451:466:13549:13293 . . . . 0/1:-476.567,0,-525.416:547:284:260:7625:8286 1/1:-2217.83,-253,0:955:12:924:26591:361 . . . 0/1:-920.124,0,-962.166:1030:507:506:14457:15092 0/1:-933.002,0,-1017.27:1079:545:517:14675:15884 . . . 0/1:-691.163,0,-486.315:575:251:314:10076:7661:251,314 . 0/1:-441.969,0,-503.682:471:244:218:6815:7517:244,218 . . 0/1:-588.358,0,-626.232:598:299:290:8951:9230:299,290 . . . . 0/1:-470.625,0,-376.93:424:193:222:6969:5835:193,222 . 0/1:-532.977,0,-466.831:496:235:257:7951:7247:235,257 . . 0/1:-517.074,0,-444.382:482:221:253:7745:6791:221,253 . . chr12 2558243 . C T 5331.58 . AB=0.468278;ABP=8.79652;AC=1;AF=0.5;AN=2;AO=310;CIGAR=1X;DP=662;DPB=662;DPRA=0;EPP=26.5743;EPPR=87.7233;GTI=0;LEN=1;MEANALT=3;MQM=35.4355;MQMR=34.8555;NS=1;NUMALT=1;ODDS=1227.64;PAIRED=0.945161;PAIREDR=0.976401;PAO=0;PQA=0;PQR=0;PRO=0;QA=9241;QR=10440;RO=339;RPL=139;RPP=10.1832;RPPR=7.67993;RPR=171;RUN=1;SAF=131;SAP=19.1492;SAR=179;SF=0;SRF=120;SRP=65.7908;SRR=219;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon4:c.C579T:p.N193N,CACNA1C:NM_001129827:exon4:c.C579T:p.N193N,CACNA1C:NM_001129829:exon4:c.C579T:p.N193N,CACNA1C:NM_001129830:exon4:c.C579T:p.N193N,CACNA1C:NM_001129831:exon4:c.C579T:p.N193N,CACNA1C:NM_001129832:exon4:c.C579T:p.N193N,CACNA1C:NM_001129833:exon4:c.C579T:p.N193N,CACNA1C:NM_001129834:exon4:c.C579T:p.N193N,CACNA1C:NM_001129835:exon4:c.C579T:p.N193N,CACNA1C:NM_001129836:exon4:c.C579T:p.N193N,CACNA1C:NM_001129837:exon4:c.C579T:p.N193N,CACNA1C:NM_001129838:exon4:c.C579T:p.N193N,CACNA1C:NM_001129839:exon4:c.C579T:p.N193N,CACNA1C:NM_001129840:exon4:c.C579T:p.N193N,CACNA1C:NM_001129841:exon4:c.C579T:p.N193N,CACNA1C:NM_001129842:exon4:c.C579T:p.N193N,CACNA1C:NM_001129843:exon4:c.C579T:p.N193N,CACNA1C:NM_001129844:exon4:c.C579T:p.N193N,CACNA1C:NM_001129846:exon4:c.C579T:p.N193N,CACNA1C:NM_001167623:exon4:c.C579T:p.N193N,CACNA1C:NM_001167624:exon4:c.C579T:p.N193N,CACNA1C:NM_001167625:exon4:c.C579T:p.N193N,CACNA1C:NM_199460:exon4:c.C579T:p.N193N;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs561224137;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=330195;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0173;dpsi_zscore=0.118;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.474e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.851e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=7.337e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.281e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-545.193,0,-624.06:662:339:310:9241:10440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2558298 . GTT ATC 6670.28 . AB=0.45496;ABP=18.4632;AC=57;AF=0.5;AN=100;AO=399;CIGAR=1X1M1X;DP=32276;DPB=885;DPRA=0;EPP=35.2776;EPPR=5.98832;GTI=0;LEN=3;MEANALT=13;MQM=37.0777;MQMR=38.3286;NS=1;NUMALT=1;ODDS=1595.49;PAIRED=0.952381;PAIREDR=0.959524;PAO=12;PQA=258;PQR=0;PRO=0;QA=11527;QR=12776;RO=420;RPL=286;RPP=165.892;RPPR=85.092;RPR=113;RUN=1;SAF=146;SAP=65.319;SAR=253;SF=0,1;SRF=189;SRP=12.1305;SRR=231;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386759537;Kaviar_AF=0.009159;Kaviar_AC=1416;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-727.106,0,-820.704:877:420:399:11527:12776 . . . 0/1:-560.919,0,-780.04:730:372:311:9008:11575 . . . 0/1:-447.881,0,-414.707:480:217:238:6911:6567 . . 0/1:-420.254,0,-483.223:491:241:220:6589:7401 . . 0/1:-429.168,0,-463.937:509:239:231:6778:7234 . 0/1:-729.212,0,-804.716:792:391:369:11111:12166 . . 0/1:-583.198,0,-692.737:713:347:307:9262:10617 0/1:-386.67,0,-488.899:527:259:231:6718:7848 . . . 0/1:-486.6,0,-513.87:538:254:256:7693:7912 . 0/1:-800.509,0,-753.598:857:386:423:12480:11803 . 0/1:-606.053,0,-604.92:678:313:320:9393:9518 1/1:-1577.66,-178.132,0:655:6:621:18606:202 . 0/1:-799.342,0,-756.653:855:383:417:12347:11791 . . . 1/1:-1928.18,-228.901,0:812:4:771:22779:122 . . 0/1:-514.096,0,-696.898:670:339:277:8180:10405 . 0/1:-621.842,0,-632.414:696:320:330:9813:9600 . 0/1:-324.04,0,-384.506:392:193:177:5272:5886 . . 0/1:-614.203,0,-679.143:735:352:326:9684:10702 . . 0/1:-626.789,0,-671.405:723:339:345:9930:10425 . . 0/1:-672.937,0,-669.292:726:337:345:10272:10404 . . 0/1:-557.517,0,-586.003:636:301:289:8556:9111 0/1:-366.068,0,-397.603:431:208:198:5772:6175 0/1:-655.743,0,-717.853:771:365:360:10420:11106 . . 0/1:-633.897,0,-886.732:836:426:360:10309:13291 0/1:-681.66,0,-708.061:745:349:355:10545:10822 1/1:-868.169,-99.9069,0:399:7:362:10508:222 0/1:-548.479,0,-671.077:677:340:292:8707:10454 0/1:-565.731,0,-318.573:495:180:278:8317:5391 . . 0/1:-897.537,0,-762.394:879:378:453:13285:11821 0/1:-593.719,0,-860.562:796:420:332:9673:12704 . 0/1:-536.349,0,-575.591:606:285:283:8318:8867 . 0/1:-601.702,0,-741.071:740:363:343:10022:11172 0/1:-675.694,0,-821.559:817:408:366:10753:12490 0/1:-279.48,0,-490.796:432:241:159:4738:7304 . 0/1:-662.486,0,-566.877:684:300:342:10017:9135 . . 0/1:-633.846,0,-539.354:646:288:323:9657:8563 . . . . 0/1:-368.884,0,-414.493:424:203:191:5737:6215 1/1:-1390.49,-160.086,0:598:6:562:16386:201 . . . 1/1:-1569.63,-148.752,0:702:20:645:19206:651 0/1:-704.54,0,-677.895:738:347:360:10749:10612 . . . 0/1:-611.029,0,-684.467:631:317:287:9131:9949:317,287 . 1/1:-1305.28,-118.975,0:503:11:467:14927:376:11,467 . . 1/1:-1718.59,-168.229,0:668:11:622:19507:351:11,622 . . 0/1:-617.333,0,-658.601:616:305:284:9037:9637:305,284 . 0/1:-535.746,0,-496.585:502:235:244:7768:7366:235,244 . 0/1:-615.152,0,-520.181:565:255:283:9061:7935:255,283 . 0/1:-599.279,0,-753.825:672:343:283:9079:10906:343,283 0/1:-470.257,0,-614.483:534:279:231:7261:8828:279,231 0/1:-525.064,0,-557.342:522:258:237:7628:8196:258,237 0/1:-524.377,0,-618.314:555:287:243:7825:9024:287,243 chr12 2595283 . C T 12263.80 . AB=0.468085;ABP=14.6531;AC=1;AF=0.5;AN=2;AO=616;CIGAR=1X;DP=1316;DPB=1316;DPRA=0;EPP=17.4492;EPPR=95.4387;GTI=0;LEN=1;MEANALT=3;MQM=39.7468;MQMR=40.4188;NS=1;NUMALT=1;ODDS=2823.85;PAIRED=0.969156;PAIREDR=0.961252;PAO=0;PQA=0;PQR=0;PRO=0;QA=19267;QR=21699;RO=671;RPL=201;RPP=164.447;RPPR=292.327;RPR=415;RUN=1;SAF=365;SAP=48.8227;SAR=251;SF=1;SRF=422;SRP=99.8657;SRR=249;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon6:c.C771T:p.V257V,CACNA1C:NM_001129827:exon6:c.C771T:p.V257V,CACNA1C:NM_001129829:exon6:c.C771T:p.V257V,CACNA1C:NM_001129830:exon6:c.C771T:p.V257V,CACNA1C:NM_001129831:exon6:c.C771T:p.V257V,CACNA1C:NM_001129832:exon6:c.C771T:p.V257V,CACNA1C:NM_001129833:exon6:c.C771T:p.V257V,CACNA1C:NM_001129834:exon6:c.C771T:p.V257V,CACNA1C:NM_001129835:exon6:c.C771T:p.V257V,CACNA1C:NM_001129836:exon6:c.C771T:p.V257V,CACNA1C:NM_001129837:exon6:c.C771T:p.V257V,CACNA1C:NM_001129838:exon6:c.C771T:p.V257V,CACNA1C:NM_001129839:exon6:c.C771T:p.V257V,CACNA1C:NM_001129840:exon6:c.C771T:p.V257V,CACNA1C:NM_001129841:exon6:c.C771T:p.V257V,CACNA1C:NM_001129842:exon6:c.C771T:p.V257V,CACNA1C:NM_001129843:exon6:c.C771T:p.V257V,CACNA1C:NM_001129844:exon6:c.C771T:p.V257V,CACNA1C:NM_001129846:exon6:c.C771T:p.V257V,CACNA1C:NM_001167623:exon6:c.C771T:p.V257V,CACNA1C:NM_001167624:exon6:c.C771T:p.V257V,CACNA1C:NM_001167625:exon6:c.C771T:p.V257V,CACNA1C:NM_199460:exon6:c.C771T:p.V257V;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0002;1000g2015aug_all=0.0133786;avsnp147=rs112315742;Kaviar_AF=0.0028978;Kaviar_AC=448;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0346;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0038;ExAC_SAS=0;CLNALLELEID=99330;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0173;dpsi_zscore=-0.086;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0320;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.554e-05;gnomAD_exome_NFE=8.254e-05;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0297;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1257.53,0,-1478.62:1316:671:616:19267:21699:671,616 . . . . . . . . . . . . chr12 2595423 . T C 6243.12 . AB=0.47807;ABP=5.8675;AC=2;AF=0.5;AN=4;AO=327;CIGAR=1X;DP=1337;DPB=684;DPRA=0;EPP=9.39191;EPPR=7.98818;GTI=0;LEN=1;MEANALT=3;MQM=39.1804;MQMR=40.3333;NS=1;NUMALT=1;ODDS=1337.83;PAIRED=0.987768;PAIREDR=0.976608;PAO=0;PQA=0;PQR=0;PRO=0;QA=9774;QR=10461;RO=342;RPL=240;RPP=158.46;RPPR=165.553;RPR=87;RUN=1;SAF=65;SAP=260.725;SAR=262;SF=1;SRF=68;SRP=272.451;SRR=274;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon6:c.T911C:p.I304T,CACNA1C:NM_001129827:exon6:c.T911C:p.I304T,CACNA1C:NM_001129829:exon6:c.T911C:p.I304T,CACNA1C:NM_001129830:exon6:c.T911C:p.I304T,CACNA1C:NM_001129831:exon6:c.T911C:p.I304T,CACNA1C:NM_001129832:exon6:c.T911C:p.I304T,CACNA1C:NM_001129833:exon6:c.T911C:p.I304T,CACNA1C:NM_001129834:exon6:c.T911C:p.I304T,CACNA1C:NM_001129835:exon6:c.T911C:p.I304T,CACNA1C:NM_001129836:exon6:c.T911C:p.I304T,CACNA1C:NM_001129837:exon6:c.T911C:p.I304T,CACNA1C:NM_001129838:exon6:c.T911C:p.I304T,CACNA1C:NM_001129839:exon6:c.T911C:p.I304T,CACNA1C:NM_001129840:exon6:c.T911C:p.I304T,CACNA1C:NM_001129841:exon6:c.T911C:p.I304T,CACNA1C:NM_001129842:exon6:c.T911C:p.I304T,CACNA1C:NM_001129843:exon6:c.T911C:p.I304T,CACNA1C:NM_001129844:exon6:c.T911C:p.I304T,CACNA1C:NM_001129846:exon6:c.T911C:p.I304T,CACNA1C:NM_001167623:exon6:c.T911C:p.I304T,CACNA1C:NM_001167624:exon6:c.T911C:p.I304T,CACNA1C:NM_001167625:exon6:c.T911C:p.I304T,CACNA1C:NM_199460:exon6:c.T911C:p.I304T;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000199681;avsnp147=rs201756421;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0001;ExAC_AMR=8.672e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=188539;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.389;SIFT_pred=T;Polyphen2_HDIV_score=0.372;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.098;Polyphen2_HVAR_pred=B;LRT_score=0.582;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.48;MutationAssessor_pred=N;FATHMM_score=-3.74;FATHMM_pred=D;PROVEAN_score=-0.86;PROVEAN_pred=N;VEST3_score=0.26;CADD_raw=0.051;CADD_phred=3.089;DANN_score=0.707;fathmm-MKL_coding_score=0.196;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.009;MetaSVM_pred=T;MetaLR_score=0.729;MetaLR_pred=D;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=2.66;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.967;SiPhy_29way_logOdds=9.228;GDI_full_10282015=.;dpsi_max_tissue=-0.0153;dpsi_zscore=-0.074;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=6.546e-05;gnomAD_exome_AMR=5.983e-05;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-632.931,0,-703.149:684:342:327:9774:10461:342,327 . . . . 0/1:-716.156,0,-645.494:653:309:338:10537:9721:309,338 . . . . . . chr12 2613716 . C T 13719.08 . AB=0.462979;ABP=16.3549;AC=30;AF=0.5;AN=52;AO=519;CIGAR=1X;DP=31852;DPB=1121;DPRA=0;EPP=17.5746;EPPR=37.3317;GTI=0;LEN=1;MEANALT=3;MQM=35.973;MQMR=36.8599;NS=1;NUMALT=1;ODDS=2066.85;PAIRED=0.938343;PAIREDR=0.943958;PAO=0;PQA=0;PQR=0;PRO=0;QA=15652;QR=17288;RO=571;RPL=369;RPP=203.677;RPPR=258.115;RPR=150;RUN=1;SAF=202;SAP=58.3431;SAR=317;SF=0,1;SRF=194;SRP=130.367;SRR=377;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0751;esp6500siv2_ea=0.0868;esp6500siv2_all=0.0751;esp6500siv2_ea=0.0868;1000g2015aug_all=0.0782748;avsnp147=rs2238087;Kaviar_AF=0.0752836;Kaviar_AC=11639;Kaviar_AN=154602;ExAC_ALL=0.0764;ExAC_AFR=0.0457;ExAC_AMR=0.0454;ExAC_EAS=0.1387;ExAC_FIN=0.0434;ExAC_NFE=0.0824;ExAC_OTH=0.0456;ExAC_SAS=0.0748;CLNALLELEID=140317;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0874;dpsi_zscore=1.573;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0757;gnomAD_exome_AFR=0.0421;gnomAD_exome_AMR=0.0510;gnomAD_exome_ASJ=0.1208;gnomAD_exome_EAS=0.1392;gnomAD_exome_FIN=0.0395;gnomAD_exome_NFE=0.0817;gnomAD_exome_OTH=0.0775;gnomAD_exome_SAS=0.0733;gnomAD_genome_ALL=0.0635;gnomAD_genome_AFR=0.0410;gnomAD_genome_AMR=0.0585;gnomAD_genome_ASJ=0.1291;gnomAD_genome_EAS=0.1520;gnomAD_genome_FIN=0.0409;gnomAD_genome_NFE=0.0716;gnomAD_genome_OTH=0.0593;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-933.838,0,-1087.08:1121:571:519:15652:17288 0/1:-1197.56,0,-1365.24:1387:704:645:19552:21932 . . . . . . 0/1:-935.762,0,-751.691:907:407:478:14876:12391 . 0/1:-749.182,0,-907.634:961:498:438:13195:14717 . . . . . 0/1:-454.112,0,-642.2:668:356:290:8430:10479 . . 0/1:-818.348,0,-808.156:931:447:459:13740:13306 . . 0/1:-718.112,0,-733.102:861:420:411:12153:12317 . . . . . . . . . . . . . . . . . 0/1:-1093.72,0,-1194.86:1245:630:595:17978:19366 . 0/1:-983.301,0,-940.889:1015:479:512:15749:14997 1/1:-3383.59,-363.007,0:1419:24:1361:41945:673 . . 0/1:-1278.74,0,-1400.52:1449:717:686:20853:21822 0/1:-1112.18,0,-1493.57:1428:766:624:19104:23790 . . . . . 0/1:-1219.8,0,-1225.38:1321:650:639:19637:19928 . 1/1:-3536.55,-409.295,0:1498:15:1456:43936:420 . . . . . 0/1:-1016.28,0,-1073.02:1176:589:567:16814:17680 . . 0/1:-1085.11,0,-1092.44:1188:573:583:17401:17248 0/1:-1558.9,0,-1562.24:1645:808:795:24791:24689 . . . . 1/1:-3266.66,-374.852,0:1388:15:1345:40696:408 . 0/1:-736.064,0,-639.957:743:346:379:11675:10484 . . . . . . . 0/1:-958.833,0,-872.519:1020:483:504:15425:14541 . . . . . . . . . . 1/1:-3646.19,-338.806,0:1415:34:1366:43646:975:34,1366 . . . . 0/1:-1360.53,0,-1400.38:1326:670:631:20429:20903:670,631 . . . 0/1:-1369.12,0,-1682.53:1471:785:664:21174:24736:785,664 . . . . 0/1:-1402.91,0,-1369.63:1346:664:661:21171:20564:664,661 0/1:-1628.24,0,-1353.83:1439:670:749:24156:20866:670,749 . . 0/1:-1403.4,0,-1629.85:1484:768:686:21740:24305:768,686 chr12 2614070 . G T 10284.76 . AB=0.460457;ABP=18.4663;AC=2;AF=0.5;AN=4;AO=524;CIGAR=1X;DP=2480;DPB=1138;DPRA=0;EPP=14.2158;EPPR=13.4728;GTI=0;LEN=1;MEANALT=3;MQM=37.7195;MQMR=38.4443;NS=1;NUMALT=1;ODDS=1974.45;PAIRED=0.969466;PAIREDR=0.975986;PAO=0;PQA=0;PQR=0;PRO=0;QA=14372;QR=17344;RO=583;RPL=341;RPP=106.462;RPPR=70.8921;RPR=183;RUN=1;SAF=317;SAP=53.1531;SAR=207;SF=0;SRF=362;SRP=77.0601;SRR=221;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129827:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129829:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129830:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129831:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129832:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129833:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129834:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129835:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129836:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129837:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129838:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129839:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129841:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129842:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129843:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129844:exon8:c.G1167T:p.G389G,CACNA1C:NM_001129846:exon8:c.G1176T:p.G392G,CACNA1C:NM_199460:exon8:c.G1176T:p.G392G;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0034;1000g2015aug_all=0.000399361;avsnp147=rs1051360;Kaviar_AF=0.0021927;Kaviar_AC=339;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0004;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0034;ExAC_OTH=0.0035;ExAC_SAS=6.699e-05;CLNALLELEID=177533;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.8273;dpsi_zscore=2.401;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0033;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=6.529e-05;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-882.818,0,-1126.61:1138:583:524:14372:17344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1221.25,0,-1196.52:1342:628:692:19311:18942 . . . . . . . . . . . . . . . . . . . . . . . chr12 2659082 . G T 7815.84 . AB=0.530612;ABP=6.59988;AC=57;AF=0.5;AN=94;AO=234;CIGAR=1X;DP=36610;DPB=441;DPRA=0;EPP=8.35546;EPPR=13.8227;GTI=0;LEN=1;MEANALT=3;MQM=33.8547;MQMR=34.3316;NS=1;NUMALT=1;ODDS=716.742;PAIRED=0.923077;PAIREDR=0.932642;PAO=0;PQA=0;PQR=0;PRO=0;QA=7083;QR=5835;RO=193;RPL=105;RPP=8.35546;RPPR=4.37169;RPR=129;RUN=1;SAF=146;SAP=34.2275;SAR=88;SF=0,1;SRF=123;SRP=34.6148;SRR=70;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.2838;esp6500siv2_ea=0.2256;esp6500siv2_all=0.2838;esp6500siv2_ea=0.2256;1000g2015aug_all=0.294928;avsnp147=rs11062272;Kaviar_AF=0.208788;Kaviar_AC=32279;Kaviar_AN=154602;ExAC_ALL=0.3187;ExAC_AFR=0.4700;ExAC_AMR=0.3845;ExAC_EAS=0.3268;ExAC_FIN=0.3470;ExAC_NFE=0.3105;ExAC_OTH=0.3165;ExAC_SAS=0.2350;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0928;dpsi_zscore=-0.427;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2417;gnomAD_exome_AFR=0.4338;gnomAD_exome_AMR=0.2376;gnomAD_exome_ASJ=0.2832;gnomAD_exome_EAS=0.2254;gnomAD_exome_FIN=0.2151;gnomAD_exome_NFE=0.2304;gnomAD_exome_OTH=0.2519;gnomAD_exome_SAS=0.2108;gnomAD_genome_ALL=0.2825;gnomAD_genome_AFR=0.4255;gnomAD_genome_AMR=0.2291;gnomAD_genome_ASJ=0.2649;gnomAD_genome_EAS=0.2302;gnomAD_genome_FIN=0.2084;gnomAD_genome_NFE=0.2286;gnomAD_genome_OTH=0.2398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-420.51,0,-323.669:441:193:234:7083:5835 . 1/1:-1901.12,-221.624,0:983:49:917:25896:998 . . . 0/1:-641.236,0,-800.775:878:459:406:11685:13312 1/1:-1184.18,-134.806,0:633:27:586:16503:644 . . . . . . 0/1:-1177.71,0,-1456.21:1591:818:740:21212:24026 1/1:-1479.24,-182.337,0:734:24:688:19928:498 . 0/1:-335.497,0,-521.45:526:289:227:6498:8426 . 0/1:-271.071,0,-374.969:449:234:205:5794:6827 0/1:-671.777,0,-897.424:967:506:425:12390:14623 . . . 0/1:-706.392,0,-602.163:804:360:419:12272:10613 0/1:-338.015,0,-370.359:526:261:256:7104:7421 . . . . 0/1:-588.214,0,-660.962:771:386:367:10422:11399 . . . . 1/1:-1530.4,-197.95,0:801:26:756:21284:554 1/1:-981.253,-120.704,0:499:20:465:13343:369 0/1:-733.283,0,-828.162:963:477:468:13243:13905 . 0/1:-558.837,0,-744.825:798:411:366:10343:12177 0/1:-455.22,0,-782.114:749:430:297:8671:12469 1/1:-1913.22,-218.037,0:989:47:918:26271:1083 0/1:-633.096,0,-677.135:815:400:402:11369:11540 . 0/1:-276.978,0,-357.77:398:202:188:5382:5959 0/1:-422.243,0,-619.93:640:357:269:7685:10117 . . . 0/1:-811.044,0,-882.328:1029:505:497:14313:14822 0/1:-730.156,0,-874.259:1006:511:469:12899:14866 . . 0/1:-585.961,0,-704.204:799:408:373:10552:11935 . . . 0/1:-291.034,0,-256.591:404:181:215:5846:5144 0/1:-680.552,0,-839.666:998:501:471:13138:14352 0/1:-535.717,0,-625.905:725:356:351:9923:10671 . . 1/1:-1563.21,-187.914,0:782:27:736:21089:572 0/1:-302.667,0,-324.922:450:216:220:6055:6135 . . 0/1:-617.199,0,-633.291:823:401:410:11305:11612 . . 0/1:-591.428,0,-870.937:916:491:401:11452:14671 0/1:-292.423,0,-245.746:426:177:234:6359:5103 0/1:-432.997,0,-840.071:772:447:312:9147:13314 0/1:-681.107,0,-632.9:861:398:448:12187:11316 . 0/1:-680.115,0,-771.369:921:443:454:12730:13049 . . 0/1:-500.624,0,-704.595:782:409:347:9709:12074 . . . . . . . 0/1:-300.029,0,-447.226:483:257:214:5884:7538 . . . . 1/1:-1792.66,-193.763,0:917:50:850:23990:1143 0/1:-529.253,0,-904.086:921:508:392:10804:14756 . . . . . 1/1:-1707.19,-190.17,0:701:10:684:21027:244:10,684 0/1:-846.588,0,-1084.39:999:528:462:14021:16350:528,462 . 0/1:-892.826,0,-1063.86:993:513:470:14387:15856:513,470 0/1:-712.749,0,-789.909:748:383:360:11120:11941:383,360 . . . . 0/1:-765.449,0,-865.041:807:410:388:12073:12851:410,388 . . . 0/1:-702.052,0,-641.007:680:321:351:10804:9945:321,351 1/1:-1784.08,-185.615,0:706:13:688:21672:331:13,688 0/1:-951.506,0,-985.092:1006:493:504:15171:15055:493,504 chr12 2659241 . G C 1474.61 . AB=0.414474;ABP=22.325;AC=1;AF=0.5;AN=2;AO=126;CIGAR=1X;DP=304;DPB=304;DPRA=0;EPP=3.63072;EPPR=11.2356;GTI=0;LEN=1;MEANALT=3;MQM=33.6984;MQMR=32.7576;NS=1;NUMALT=1;ODDS=339.541;PAIRED=0.984127;PAIREDR=0.993939;PAO=0;PQA=0;PQR=0;PRO=0;QA=3252;QR=4485;RO=165;RPL=86;RPP=39.4772;RPPR=73.1423;RPR=40;RUN=1;SAF=26;SAP=97.3832;SAR=100;SF=0;SRF=49;SRP=62.0875;SRR=116;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751350324;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=3.331e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.373e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1565;dpsi_zscore=-0.596;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.514e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=4.039e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.646e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.696e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-169.117,0,-265.709:304:165:126:3252:4485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2694552 . C T 9378.64 . AB=0.466361;ABP=15.8665;AC=1;AF=0.5;AN=2;AO=610;CIGAR=1X;DP=1308;DPB=1308;DPRA=0;EPP=169.096;EPPR=228.151;GTI=0;LEN=1;MEANALT=3;MQM=34.6689;MQMR=34.8374;NS=1;NUMALT=1;ODDS=2159.51;PAIRED=0.906557;PAIREDR=0.929448;PAO=0;PQA=0;PQR=0;PRO=0;QA=16928;QR=18960;RO=652;RPL=327;RPP=9.90206;RPPR=3.48989;RPR=283;RUN=1;SAF=384;SAP=91.8769;SAR=226;SF=0;SRF=406;SRP=88.2706;SRR=246;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129827:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129829:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129830:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129831:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129832:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129833:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129834:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129835:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129836:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129837:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129838:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129839:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129840:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129841:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129842:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129843:exon17:c.C2350T:p.P784S,CACNA1C:NM_001129844:exon17:c.C2341T:p.P781S,CACNA1C:NM_001129846:exon17:c.C2350T:p.P784S,CACNA1C:NM_001167623:exon17:c.C2350T:p.P784S,CACNA1C:NM_001167624:exon17:c.C2350T:p.P784S,CACNA1C:NM_001167625:exon17:c.C2350T:p.P784S,CACNA1C:NM_199460:exon17:c.C2350T:p.P784S;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749935207;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.971e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.576e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=408624;CLNDN=Long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.287;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.022;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.945;MutationAssessor_pred=L;FATHMM_score=-3.66;FATHMM_pred=D;PROVEAN_score=-3.54;PROVEAN_pred=D;VEST3_score=0.72;CADD_raw=3.595;CADD_phred=23.2;DANN_score=0.999;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=0.815;MetaSVM_pred=D;MetaLR_score=0.873;MetaLR_pred=D;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.920;GDI_full_10282015=.;dpsi_max_tissue=-0.6569;dpsi_zscore=-1.234;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.982e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.158e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.69e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-972.419,0,-1100.62:1308:652:610:16928:18960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2694638 . C T 9268.22 . AB=0.482875;ABP=7.5471;AC=26;AF=0.5;AN=52;AO=860;CIGAR=1X;DP=36531;DPB=1781;DPRA=0;EPP=17.5945;EPPR=37.5485;GTI=0;LEN=1;MEANALT=3;MQM=34.0023;MQMR=35.3948;NS=1;NUMALT=1;ODDS=2732.15;PAIRED=0.945349;PAIREDR=0.917258;PAO=0;PQA=0;PQR=0;PRO=0;QA=22223;QR=25829;RO=846;RPL=573;RPP=209.543;RPPR=86.1731;RPR=287;RUN=1;SAF=243;SAP=356.193;SAR=617;SF=0,1;SRF=222;SRP=417.808;SRR=624;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129827:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129829:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129830:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129831:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129832:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129833:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129834:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129835:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129836:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129837:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129838:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129839:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129840:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129841:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129842:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129843:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129844:exon17:c.C2427T:p.D809D,CACNA1C:NM_001129846:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167623:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167624:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167625:exon17:c.C2436T:p.D812D,CACNA1C:NM_199460:exon17:c.C2436T:p.D812D;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0791;esp6500siv2_ea=0.0786;esp6500siv2_all=0.0791;esp6500siv2_ea=0.0786;1000g2015aug_all=0.145567;avsnp147=rs215976;Kaviar_AF=0.0873727;Kaviar_AC=13508;Kaviar_AN=154602;ExAC_ALL=0.1621;ExAC_AFR=0.1135;ExAC_AMR=0.0978;ExAC_EAS=0.3391;ExAC_FIN=0.1483;ExAC_NFE=0.1305;ExAC_OTH=0.1732;ExAC_SAS=0.2099;CLNALLELEID=99305;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8049;dpsi_zscore=-1.835;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1118;gnomAD_exome_AFR=0.0872;gnomAD_exome_AMR=0.0572;gnomAD_exome_ASJ=0.1476;gnomAD_exome_EAS=0.2878;gnomAD_exome_FIN=0.1061;gnomAD_exome_NFE=0.0851;gnomAD_exome_OTH=0.1055;gnomAD_exome_SAS=0.1590;gnomAD_genome_ALL=0.0917;gnomAD_genome_AFR=0.0791;gnomAD_genome_AMR=0.0621;gnomAD_genome_ASJ=0.1457;gnomAD_genome_EAS=0.2911;gnomAD_genome_FIN=0.1016;gnomAD_genome_NFE=0.0765;gnomAD_genome_OTH=0.0799;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1253.96,0,-1539.41:1781:846:860:22223:25829 . . . . . . . 0/1:-625.844,0,-1012.69:1112:591:466:12316:17617 . . . . . . . . . 0/1:-1069.87,0,-1676.4:1643:878:719:19151:27000 . . . 0/1:-845.976,0,-1300.01:1325:701:576:14937:21283 0/1:-647.403,0,-868.754:1011:510:454:11926:15114 . . 0/1:-1173.3,0,-1659.34:1733:882:791:20853:26709 . . . 0/1:-1063.79,0,-1599.11:1647:870:722:18973:26396 . . . . . . . . . . . . . 0/1:-1146.66,0,-1695.44:1738:904:774:20185:27374 . 0/1:-844.134,0,-1002.46:1257:591:594:15046:17809 . . . . . . . . . 0/1:-1099.25,0,-1794.62:1776:942:773:19892:28862 . . . . 0/1:-457.369,0,-574.378:676:329:325:8417:10036 0/1:-924.337,0,-1277.31:1379:693:626:16531:21340 0/1:-722.255,0,-1118.93:1198:623:518:13281:18561 . 0/1:-893.818,0,-1210.48:1379:683:637:15947:20907 0/1:-1096.6,0,-1630.99:1667:893:720:19215:26763 . . . 0/1:-991.969,0,-1603.87:1641:867:710:18305:26299 0/1:-1076.27,0,-1535.25:1621:830:720:18869:25149 . . 0/1:-521.403,0,-813.606:799:426:342:9078:13124 0/1:-1008.89,0,-1403.89:1562:789:706:18186:23903 . . . . . 0/1:-722.362,0,-911.789:1005:490:471:12585:15290 . . . . . 0/1:-1189.72,0,-1556.88:1677:829:772:20485:25287 . . . . . . 0/1:-798.164,0,-1051.99:947:489:434:12512:15536:489,434 . . . . 0/1:-1270.66,0,-1636.73:1476:770:682:19896:24176:770,682 . . 0/1:-1109.88,0,-1195.03:1178:580:581:17054:18066:580,581 . 0/1:-1254.41,0,-1633.13:1493:774:687:19917:24236:774,687 0/1:-1599.76,0,-1886.27:1810:925:864:25080:28455:925,864 . . . . . chr12 2694967 . CTA CTGTA 4834.32 . AB=0.458333;ABP=12.7819;AC=1;AF=0.5;AN=2;AO=297;CIGAR=1M2I2M;DP=648;DPB=855.667;DPRA=0;EPP=9.15915;EPPR=7.07124;GTI=0;LEN=2;MEANALT=16;MQM=39.4074;MQMR=39.3701;NS=1;NUMALT=1;ODDS=1113.14;PAIRED=0.962963;PAIREDR=0.931818;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=7756;QR=9663;RO=308;RPL=111;RPP=44.1367;RPPR=48.1318;RPR=186;RUN=1;SAF=158;SAP=5.6497;SAR=139;SF=1;SRF=148;SRP=4.02553;SRR=160;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0489;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0489;esp6500siv2_ea=0.0006;1000g2015aug_all=0.0453275;avsnp147=rs141030741;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.0182;ExAC_AFR=0.1843;ExAC_AMR=0.0110;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0128;ExAC_SAS=0.0005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.1544;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0061;gnomAD_exome_SAS=7.439e-05;gnomAD_genome_ALL=0.0428;gnomAD_genome_AFR=0.1495;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-495.99,0,-642.05:648:308:297:7756:9663:308,297 . . . . . . . . . . . . chr12 2695136 . C T 4330.36 . AB=0.502075;ABP=3.03733;AC=2;AF=0.5;AN=4;AO=363;CIGAR=1X;DP=1146;DPB=723;DPRA=0;EPP=50.3939;EPPR=23.8218;GTI=0;LEN=1;MEANALT=3;MQM=36.4022;MQMR=37.708;NS=1;NUMALT=1;ODDS=1358.35;PAIRED=0.969697;PAIREDR=0.926254;PAO=0;PQA=0;PQR=0;PRO=0;QA=10610;QR=10239;RO=339;RPL=300;RPP=339.014;RPPR=288.191;RPR=63;RUN=1;SAF=120;SAP=93.5122;SAR=243;SF=0;SRF=113;SRP=84.8024;SRR=226;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0140;esp6500siv2_ea=0.0189;esp6500siv2_all=0.0140;esp6500siv2_ea=0.0189;1000g2015aug_all=0.00638978;avsnp147=rs56291949;Kaviar_AF=0.0027167;Kaviar_AC=420;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7656;dpsi_zscore=1.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0228;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0928;gnomAD_genome_NFE=0.0209;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-651.859,0,-638.726:723:339:363:10610:10239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-300.692,0,-446.177:423:228:176:5148:6861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2702366 . G A 7680.79 . AB=0.427358;ABP=51.5939;AC=1;AF=0.5;AN=2;AO=453;CIGAR=1X;DP=1060;DPB=1060;DPRA=0;EPP=5.12425;EPPR=10.9874;GTI=0;LEN=1;MEANALT=3;MQM=38.0331;MQMR=38.9288;NS=1;NUMALT=1;ODDS=1768.57;PAIRED=0.986755;PAIREDR=0.96875;PAO=0;PQA=0;PQR=0;PRO=0;QA=13086;QR=17488;RO=576;RPL=183;RPP=39.2926;RPPR=16.582;RPR=270;RUN=1;SAF=263;SAP=28.5551;SAR=190;SF=0;SRF=335;SRP=36.3213;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749112370;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.493e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.273e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0440;dpsi_zscore=1.546;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.634e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.606e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-785.573,0,-1168.94:1060:576:453:13086:17488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2702389 . TGAGGAGGAGC TGAGGAGC 2533.36 . AB=0.400366;ABP=50.1753;AC=1;AF=0.5;AN=2;AO=219;CIGAR=1M3D7M;DP=547;DPB=498.273;DPRA=0;EPP=16.5845;EPPR=19.6073;GTI=0;LEN=3;MEANALT=88;MQM=32.758;MQMR=37.8191;NS=1;NUMALT=1;ODDS=583.328;PAIRED=0.913242;PAIREDR=0.929648;PAO=20;PQA=504;PQR=726;PRO=27;QA=4812;QR=6088;RO=199;RPL=111;RPP=3.09954;RPPR=3.89417;RPR=108;RUN=1;SAF=119;SAP=6.58976;SAR=100;SF=0;SRF=108;SRP=6.16385;SRR=91;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=CACNA1C:NM_000719:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129827:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129829:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129830:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129831:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129832:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129833:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129834:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129835:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129836:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129837:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129838:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129839:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129840:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129841:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129842:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129843:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001129844:exon19:c.2533_2535del:p.845_845del,CACNA1C:NM_001129846:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001167623:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001167624:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_001167625:exon19:c.2542_2544del:p.848_848del,CACNA1C:NM_199460:exon19:c.2542_2544del:p.848_848del;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0020;1000g2015aug_all=.;avsnp147=rs575583988;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0004;ExAC_OTH=0.0035;ExAC_SAS=0.0014;CLNALLELEID=165528;CLNDN=Long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.551e-05;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-262.482,0,-374.1:547:199:219:4812:6088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2706632 . T G 10857.80 . AB=0.474069;ABP=11.0062;AC=1;AF=0.5;AN=2;AO=649;CIGAR=1X;DP=1369;DPB=1369;DPRA=0;EPP=12.4089;EPPR=4.23712;GTI=0;LEN=1;MEANALT=3;MQM=35.7935;MQMR=37.1525;NS=1;NUMALT=1;ODDS=2500.11;PAIRED=0.958398;PAIREDR=0.939266;PAO=0;PQA=0;PQR=0;PRO=0;QA=18574;QR=20933;RO=708;RPL=339;RPP=5.82418;RPPR=4.49475;RPR=310;RUN=1;SAF=343;SAP=7.5908;SAR=306;SF=0;SRF=405;SRP=34.9199;SRR=303;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon21:c.T2823G:p.T941T,CACNA1C:NM_001129835:exon21:c.T2823G:p.T941T,CACNA1C:NM_001129836:exon21:c.T2823G:p.T941T,CACNA1C:NM_001129838:exon21:c.T2823G:p.T941T,CACNA1C:NM_001129840:exon21:c.T2823G:p.T941T,CACNA1C:NM_001129841:exon21:c.T2823G:p.T941T,CACNA1C:NM_001129843:exon21:c.T2823G:p.T941T,CACNA1C:NM_001129846:exon21:c.T2823G:p.T941T,CACNA1C:NM_001129827:exon22:c.T2883G:p.T961T,CACNA1C:NM_001129832:exon22:c.T2883G:p.T961T,CACNA1C:NM_199460:exon22:c.T2883G:p.T961T;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.6471;dpsi_zscore=2.806;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-1096.2,0,-1307.09:1369:708:649:18574:20933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2706720 . G C 18761.42 . AB=0;ABP=0;AC=222;AF=1;AN=230;AO=734;CIGAR=1X;DP=97241;DPB=753;DPRA=0;EPP=64.3559;EPPR=16.0391;GTI=0;LEN=1;MEANALT=3;MQM=37.5668;MQMR=26.3333;NS=1;NUMALT=1;ODDS=994.735;PAIRED=0.970027;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=20797;QR=84;RO=6;RPL=334;RPP=15.8971;RPPR=16.0391;RPR=400;RUN=1;SAF=349;SAP=6.8444;SAR=385;SF=0,1;SRF=0;SRP=16.0391;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.9479;esp6500siv2_ea=0.9739;esp6500siv2_all=0.9479;esp6500siv2_ea=0.9739;1000g2015aug_all=0.951278;avsnp147=rs215983;Kaviar_AF=0.186485;Kaviar_AC=28831;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9606;dpsi_zscore=1.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.9530;gnomAD_genome_AFR=0.8848;gnomAD_genome_AMR=0.9785;gnomAD_genome_ASJ=0.9570;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9888;gnomAD_genome_NFE=0.9762;gnomAD_genome_OTH=0.9745;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1724.66,-216.875,0:753:6:734:20797:84 1/1:-2485.61,-301.454,0:1065:11:1036:30078:208 1/1:-2000.48,-241.196,0:855:7:826:24125:111 1/1:-1152.89,-145.343,0:503:1:486:13914:14 1/1:-1928.05,-237.103,0:846:11:815:23296:161 0/1:-988.857,0,-953.87:1110:520:562:15731:15577 1/1:-1626.81,-199.475,0:706:8:684:19478:112 1/1:-2020.88,-252.624,0:893:7:863:24469:119 1/1:-1717.84,-216.931,0:778:8:750:20925:137 0/1:-750.895,0,-1028.43:958:506:436:12458:15582 1/1:-1785.97,-220.371,0:785:8:754:21573:119 1/1:-1852.1,-236.612,0:833:7:808:22472:98 1/1:-1831.45,-228.057,0:792:3:767:22046:42 1/1:-1438.35,-178.745,0:654:8:619:17426:112 1/1:-1501.02,-186.454,0:648:4:632:18221:56 1/1:-2889.46,-343.219,0:1246:16:1206:34977:304 1/1:-1621.03,-204.633,0:708:2:686:19761:28 1/1:-3794.44,-464.972,0:1644:13:1586:45759:195 1/1:-1844.35,-226.947,0:789:7:769:22303:116 1/1:-1548.48,-194.231,0:684:5:665:18580:90 1/1:-1575.83,-197.975,0:704:6:681:18832:119 0/1:-896.608,0,-750.132:908:405:486:13776:12187 1/1:-1020.66,-131.253,0:473:6:456:12407:91 1/1:-2321.34,-280.406,0:1008:12:970:27877:190 1/1:-2187.28,-274.385,0:955:8:930:26422:112 1/1:-1378.81,-173.149,0:615:5:591:16872:70 1/1:-2037.15,-253.412,0:867:1:845:24388:14 1/1:-1908.74,-224.734,0:808:7:785:22895:153 1/1:-1326.14,-169.638,0:608:9:584:16104:126 1/1:-1483.99,-183.063,0:659:12:635:17990:168 1/1:-1770.44,-217.511,0:783:10:761:21216:189 1/1:-2796.91,-343.676,0:1207:9:1165:33293:152 1/1:-2148.69,-267.191,0:981:14:943:25910:256 1/1:-1950.81,-234.845,0:872:13:835:24159:261 1/1:-2030.81,-251.371,0:883:6:854:24386:84 1/1:-2230.15,-277.375,0:970:7:943:26533:105 1/1:-2334.2,-283.348,0:1013:12:980:28397:190 1/1:-2054.1,-249.423,0:892:11:860:24418:167 1/1:-1965.74,-246.627,0:875:9:853:24192:157 0/1:-432.017,0,-499.711:534:258:259:7096:7976 1/1:-2350.83,-282.879,0:1019:13:986:27964:200 1/1:-1680.31,-208.74,0:738:7:718:20315:116 1/1:-1861.31,-230.594,0:812:6:785:22346:84 1/1:-1954.07,-235.441,0:862:10:821:23605:176 1/1:-2562.6,-304.608,0:1119:17:1078:30971:309 1/1:-2000.59,-240.428,0:865:10:829:24015:153 1/1:-1850.34,-238.558,0:830:7:809:22279:98 1/1:-1107.91,-132.526,0:480:7:464:13356:151 1/1:-1508.45,-187.335,0:666:5:639:18312:92 1/1:-2373.11,-287.663,0:1030:15:997:28307:210 0/1:-822.353,0,-1019.46:998:507:471:13500:15692 1/1:-1747.09,-227.196,0:786:7:770:21538:98 1/1:-2456.67,-303.436,0:1080:10:1039:29080:147 1/1:-2162,-263.969,0:951:11:911:26149:176 1/1:-1295.92,-170.173,0:605:5:581:15874:70 1/1:-1455.09,-178.553,0:632:7:615:17636:111 1/1:-2195.98,-273.281,0:956:6:929:26681:106 1/1:-1144.71,-149.364,0:511:1:496:14000:14 1/1:-1375.32,-171.475,0:602:7:583:16807:98 1/1:-2301.9,-282.368,0:994:8:962:27481:134 1/1:-1262.69,-162.297,0:574:4:554:15473:69 1/1:-2461.93,-303.591,0:1081:7:1040:29590:138 1/1:-1636.89,-198.778,0:713:4:691:19867:118 1/1:-1372.6,-169.026,0:592:6:571:16523:97 1/1:-2417.49,-299.251,0:1040:6:1011:28890:84 1/1:-1995.72,-242.039,0:869:8:844:24139:187 1/1:-1160.05,-150.191,0:513:1:502:14271:14 1/1:-2024.17,-249.689,0:880:8:853:24196:137 1/1:-1616.61,-205.841,0:731:5:702:19454:88 1/1:-1793.66,-222.074,0:794:9:766:21894:126 1/1:-1864.9,-226.749,0:808:8:782:22452:165 0/1:-1033.9,0,-1125.53:1135:564:553:16174:17343 1/1:-2413.75,-298.996,0:1066:11:1030:29133:168 0/1:-349.3,0,-445.302:497:254:232:6023:7370 1/1:-1827.66,-218.807,0:808:9:772:21985:195 1/1:-2210.98,-279.659,0:991:9:955:26882:126 1/1:-2108.72,-264.435,0:927:7:896:25508:112 1/1:-2334.12,-292.577,0:1017:6:989:28062:109 1/1:-1309.97,-167.845,0:575:3:567:15876:42 1/1:-1273.5,-161.728,0:576:7:554:15557:98 1/1:-2169.77,-270.979,0:970:12:931:26134:175 1/1:-2239.64,-283.093,0:980:5:952:27193:70 1/1:-2134.2,-266.383,0:970:13:928:25991:195 1/1:-1853.59,-226.109,0:796:4:769:22161:87 1/1:-1618.43,-201.583,0:701:6:680:19633:84 1/1:-1596.08,-199.758,0:696:4:674:19017:56 1/1:-1419.54,-176.162,0:652:11:625:17206:190 1/1:-2271.78,-280.663,0:982:8:956:27301:152 1/1:-1108.37,-134.735,0:492:8:469:13435:119 1/1:-1868.7,-234.401,0:820:4:795:22348:69 1/1:-2903.94,-363.779,0:1249:3:1218:34547:42 1/1:-1659.78,-199.65,0:729:7:698:20047:142 1/1:-2533.21,-310.69,0:1092:10:1064:30398:153 1/1:-1965.49,-243.317,0:862:8:833:23520:112 1/1:-2199.7,-278.298,0:958:5:935:26541:70 . 1/1:-2432.32,-266.189,0:938:8:921:28469:152:8,921 1/1:-2625.41,-296.086,0:1006:3:993:30586:42:3,993 1/1:-2842.13,-318.775,0:1100:5:1080:33241:88:5,1080 1/1:-1246.82,-139.766,0:485:2:477:14571:50:2,477 1/1:-2016.97,-221.487,0:793:8:778:23606:170:8,778 1/1:-2685.36,-306.389,0:1043:3:1022:31425:49:3,1022 1/1:-2217.13,-247.068,0:859:6:843:25876:102:6,843 1/1:-2389.31,-260.2,0:932:7:908:27919:187:7,908 1/1:-2229.62,-252.83,0:852:1:841:25942:14:1,841 1/1:-2325.86,-260.921,0:905:4:892:27080:100:4,892 1/1:-2619.55,-292.74,0:995:3:982:30527:42:3,982 1/1:-2050.25,-229.525,0:783:1:772:23938:36:1,772 1/1:-2254.36,-255.398,0:872:4:861:26459:56:4,861 1/1:-2077.45,-231.095,0:816:8:797:24393:134:8,797 1/1:-2498.58,-287.063,0:980:3:963:29194:42:3,963 1/1:-2287.12,-261.097,0:895:4:878:26725:56:4,878 1/1:-2709.61,-305.445,0:1048:4:1027:31758:56:4,1027 1/1:-2029.02,-223.659,0:782:3:764:23670:82:3,764 0/1:-730.518,0,-790.288:735:369:360:11021:11736:369,360 1/1:-2225.77,-257.95,0:885:4:866:26212:56:4,866 chr12 2711010 . C G 14238.40 . AB=0.462878;ABP=26.3873;AC=1;AF=0.5;AN=2;AO=904;CIGAR=1X;DP=1953;DPB=1953;DPRA=0;EPP=11.6578;EPPR=20.5292;GTI=0;LEN=1;MEANALT=3;MQM=35.5442;MQMR=36.507;NS=1;NUMALT=1;ODDS=3278.52;PAIRED=0.946903;PAIREDR=0.934263;PAO=0;PQA=0;PQR=0;PRO=0;QA=26127;QR=30739;RO=1004;RPL=176;RPP=734.931;RPPR=720.582;RPR=728;RUN=1;SAF=584;SAP=170.425;SAR=320;SF=0;SRF=653;SRP=200.268;SRR=351;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs767334396;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.657e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.001e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=372963;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4312;dpsi_zscore=-1.019;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.122e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1529.78,0,-1923.88:1953:1004:904:26127:30739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2715861 . C T 11463.10 . AB=0.465931;ABP=18.546;AC=1;AF=0.5;AN=2;AO=718;CIGAR=1X;DP=1541;DPB=1541;DPRA=0;EPP=30.8826;EPPR=29.6108;GTI=0;LEN=1;MEANALT=3;MQM=37.1588;MQMR=36.4974;NS=1;NUMALT=1;ODDS=2639.48;PAIRED=0.94429;PAIREDR=0.931122;PAO=0;PQA=0;PQR=0;PRO=0;QA=19704;QR=24401;RO=784;RPL=482;RPP=186.031;RPPR=173.36;RPR=236;RUN=1;SAF=277;SAP=84.3528;SAR=441;SF=0;SRF=299;SRP=98.8321;SRR=485;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs780804956;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0006;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=9.311e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0699;dpsi_zscore=0.381;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.408e-05;gnomAD_exome_AFR=7.83e-05;gnomAD_exome_AMR=3.249e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.146e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1184.84,0,-1516.93:1541:784:718:19704:24401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2715862 . G A 3288.80 . AB=0.455;ABP=10.0459;AC=1;AF=0.5;AN=2;AO=182;CIGAR=1X;DP=400;DPB=400;DPRA=0;EPP=6.06468;EPPR=11.7481;GTI=0;LEN=1;MEANALT=3;MQM=37.3132;MQMR=37.8038;NS=1;NUMALT=1;ODDS=757.275;PAIRED=0.961538;PAIREDR=0.995215;PAO=0;PQA=0;PQR=0;PRO=0;QA=5575;QR=6453;RO=209;RPL=114;RPP=28.2566;RPPR=34.4395;RPR=68;RUN=1;SAF=65;SAP=35.2722;SAR=117;SF=0;SRF=84;SRP=20.4756;SRR=125;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747949040;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.394e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.477e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0538;dpsi_zscore=-0.282;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.206e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.063e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-342.46,0,-409.289:400:209:182:5575:6453 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2721131 . C A 10662.20 . AB=0.481672;ABP=6.99027;AC=1;AF=0.5;AN=2;AO=657;CIGAR=1X;DP=1364;DPB=1364;DPRA=0;EPP=3.41022;EPPR=19.4198;GTI=0;LEN=1;MEANALT=3;MQM=35.1507;MQMR=35.1531;NS=1;NUMALT=1;ODDS=2455.05;PAIRED=0.926941;PAIREDR=0.925656;PAO=0;PQA=0;PQR=0;PRO=0;QA=18564;QR=20315;RO=686;RPL=317;RPP=4.75872;RPPR=3.21289;RPR=340;RUN=1;SAF=343;SAP=5.78992;SAR=314;SF=0;SRF=356;SRP=5.15012;SRR=330;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129829:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129830:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129831:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129833:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129834:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129835:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129836:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129837:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129838:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129839:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129840:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129841:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129842:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129843:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129844:exon29:c.C3771A:p.G1257G,CACNA1C:NM_001129846:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167623:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167624:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167625:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129827:exon30:c.C3840A:p.G1280G,CACNA1C:NM_001129832:exon30:c.C3840A:p.G1280G,CACNA1C:NM_199460:exon30:c.C3840A:p.G1280G;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0029;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0029;1000g2015aug_all=0.000399361;avsnp147=rs201258230;Kaviar_AF=0.0021345;Kaviar_AC=330;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0003;ExAC_AMR=0.0033;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0024;ExAC_OTH=0.0066;ExAC_SAS=0.0046;CLNALLELEID=99310;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.1850;dpsi_zscore=2.026;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1075.03,0,-1202.96:1364:686:657:18564:20315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2721137 . C T 12769.07 . AB=0.467166;ABP=19.2663;AC=55;AF=0.5;AN=102;AO=811;CIGAR=1X;DP=70418;DPB=1736;DPRA=0;EPP=24.219;EPPR=51.1561;GTI=0;LEN=1;MEANALT=3;MQM=34.7793;MQMR=35.3213;NS=1;NUMALT=1;ODDS=3055.7;PAIRED=0.933416;PAIREDR=0.929864;PAO=0;PQA=0;PQR=0;PRO=0;QA=23258;QR=26770;RO=884;RPL=392;RPP=4.96222;RPPR=8.66988;RPR=419;RUN=1;SAF=403;SAP=3.07724;SAR=408;SF=0,1;SRF=464;SRP=7.76592;SRR=420;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129829:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129830:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129831:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129833:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129834:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129835:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129836:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129837:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129838:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129839:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129840:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129841:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129842:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129843:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129844:exon29:c.C3777T:p.F1259F,CACNA1C:NM_001129846:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167623:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167624:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167625:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129827:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129832:exon30:c.C3846T:p.F1282F,CACNA1C:NM_199460:exon30:c.C3846T:p.F1282F;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.259185;avsnp147=rs216008;Kaviar_AF=0.205521;Kaviar_AC=31774;Kaviar_AN=154602;ExAC_ALL=0.2095;ExAC_AFR=0.2357;ExAC_AMR=0.2124;ExAC_EAS=0.3527;ExAC_FIN=0.1621;ExAC_NFE=0.1852;ExAC_OTH=0.2201;ExAC_SAS=0.2337;CLNALLELEID=99311;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0529;dpsi_zscore=-1.501;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2097;gnomAD_exome_AFR=0.2336;gnomAD_exome_AMR=0.2170;gnomAD_exome_ASJ=0.2365;gnomAD_exome_EAS=0.3519;gnomAD_exome_FIN=0.1596;gnomAD_exome_NFE=0.1838;gnomAD_exome_OTH=0.2140;gnomAD_exome_SAS=0.2313;gnomAD_genome_ALL=0.2088;gnomAD_genome_AFR=0.2347;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.3688;gnomAD_genome_FIN=0.1554;gnomAD_genome_NFE=0.1901;gnomAD_genome_OTH=0.1878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1338.45,0,-1610.78:1736:884:811:23258:26770 . 0/1:-709.183,0,-716.935:873:393:456:12269:12118 . 0/1:-1478.21,0,-1749.19:1920:949:909:25603:28583 . 0/1:-1087.6,0,-1582.16:1584:835:706:19571:25253 . . . . . 1/1:-2017.14,-254.109,0:1026:23:971:26966:604 . . . . . . 0/1:-719.192,0,-908.512:935:480:426:12217:14587 . . 0/1:-1310.46,0,-1685.57:1712:873:793:22365:26758 . . . 1/1:-2783.72,-326.567,0:1290:20:1232:35572:653 0/1:-724.789,0,-853.15:988:484:477:13293:14677 . . 0/1:-1434.97,0,-1635.69:1768:870:861:24583:26585 . 0/1:-1028.93,0,-1278.93:1367:684:649:17934:20970 . 0/1:-1331.77,0,-1361.07:1570:742:788:22419:22472 . . . 0/1:-694.439,0,-806.173:893:444:425:12033:13630 . . . . 0/1:-1350.29,0,-1496.77:1626:792:785:22555:24413 0/1:-1182.86,0,-1203.18:1371:652:688:19582:19796 . . . 1/1:-3667.72,-420.502,0:1697:32:1619:46248:934 . 0/1:-981.306,0,-1032.98:1267:594:633:17864:17892 0/1:-1573.95,0,-1719.04:1901:916:942:26109:28144 0/1:-1323.43,0,-1380.15:1624:761:817:22758:23146 . . . . . 0/1:-1372.8,0,-1311.26:1608:741:830:23344:22236 0/1:-589.115,0,-661.725:795:382:389:10800:11397 0/1:-1640.5,0,-1484.39:1788:830:926:26611:25298 0/1:-1093.24,0,-984.84:1197:542:634:17776:16399 . 0/1:-1346.16,0,-1591.05:1727:861:834:23190:26177 0/1:-1187.47,0,-1164.85:1430:658:711:20034:19930 0/1:-505.858,0,-704.28:780:403:347:9718:12053 . 0/1:-901.012,0,-1047.09:1193:586:563:15606:17679 . 0/1:-1035.67,0,-1195.47:1328:660:638:17716:19963 0/1:-1531.35,0,-1817.56:1915:960:905:26082:29253 0/1:-1438.96,0,-1265.15:1623:712:868:24345:21918 0/1:-533.557,0,-576.32:771:354:381:10160:10445 . 1/1:-3388.28,-410.453,0:1636:28:1549:43536:806 0/1:-1227.23,0,-1424.12:1544:777:730:21074:23460 . 0/1:-773.286,0,-843.575:955:468:468:13354:14266 0/1:-518.107,0,-658.48:694:347:324:8956:10847 0/1:-1202.53,0,-1346.98:1536:754:747:21020:22909 . . . 0/1:-903.721,0,-1035.8:1181:581:568:15839:17413 . 0/1:-771.818,0,-914.822:1009:499:478:13496:14922 . 0/1:-758.24,0,-734.384:872:403:451:12673:12179 . . . 0/1:-1259.76,0,-1249.35:1487:696:758:21180:21207 0/1:-1174.43,0,-1644.21:1653:874:729:20508:26502 0/1:-1295.69,0,-1265.1:1543:719:773:21572:21639 . . 0/1:-1635.7,0,-1637.68:1627:788:818:24890:24819:788,818 . 0/1:-885.62,0,-973.92:961:473:463:13970:14605:473,463 . . 0/1:-1409.35,0,-1369.65:1439:691:720:21599:21327:691,720 0/1:-1630.18,0,-1655.62:1653:812:810:24798:25141:812,810 0/1:-1455.49,0,-1459.67:1456:707:728:22042:22143:707,728 . . 0/1:-1218.6,0,-1220.36:1220:586:612:18598:18470:586,612 . 0/1:-1267.06,0,-1623.28:1457:772:654:19907:24161:772,654 0/1:-1510.45,0,-1698.51:1631:816:794:23471:25588:816,794 . . . . 0/1:-1604.46,0,-1419.98:1561:718:817:24575:22003:718,817 chr12 2757710 . G A 2531.25 . AB=0.443886;ABP=19.3382;AC=1;AF=0.5;AN=2;AO=265;CIGAR=1X;DP=597;DPB=597;DPRA=0;EPP=35.5332;EPPR=40.37;GTI=0;LEN=1;MEANALT=3;MQM=26.2302;MQMR=23.8157;NS=1;NUMALT=1;ODDS=582.842;PAIRED=0.871698;PAIREDR=0.880546;PAO=0;PQA=0;PQR=0;PRO=0;QA=6459;QR=8197;RO=293;RPL=188;RPP=103.971;RPPR=94.3233;RPR=77;RUN=1;SAF=89;SAP=65.0325;SAR=176;SF=0;SRF=91;SRP=94.3233;SRR=202;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00319489;avsnp147=rs139691733;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0090;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.501e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6017;dpsi_zscore=-1.187;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0091;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.171e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0079;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-280.769,0,-334.57:597:293:265:6459:8197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2757754 . AGT AGC,GGT,CGT 431.21 . AB=0;ABP=0;AC=2,0,0;AF=0;AN=30;AO=21;CIGAR=1X;DP=3262;DPB=325;DPRA=0;EPP=26.2761;EPPR=119.754;GTI=0;LEN=1;MEANALT=3;MQM=21.9524;MQMR=31.3462;NS=1;NUMALT=1;ODDS=309.773;PAIRED=0.952381;PAIREDR=0.923077;PAO=0;PQA=0;PQR=0;PRO=0;QA=382;QR=8765;RO=286;RPL=16;RPP=15.5221;RPPR=156.107;RPR=5;RUN=1;SAF=13;SAP=5.59539;SAR=8;SF=1;SRF=9;SRP=548.338;SRR=277;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1550;dpsi_zscore=0.628;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2212;dpsi_zscore=-1.589;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,.,.,.,.,-606.201:325:286:.,.,21:.,.,382:8765:286,21 . 0/0:.,.,.,.,.,-448.506,.,.,-439.71,-450.311:242:205:.,18,17:.,284,307:6162:205,17,18 0/0:.,.,.,.,.,.,.,.,.,-262.21:129:113:.,.,10:.,.,204:3536:113,10 0/0:.,.,.,.,.,-353.907,.,.,.,.:189:165:.,14,.:.,221,.:5043:165,14 0/0:.,.,.,.,.,.,.,.,.,-480.895:240:216:.,.,12:.,.,227:6555:216,12 . 0/0:.,.,.,.,.,-424.543,.,.,-414.433,-419.261:237:206:.,12,16:.,191,290:5831:206,16,12 0/0:.,.,.,.,.,.,.,.,.,-359.862:189:170:.,.,12:.,.,230:5167:170,12 . 0/0:.,.,.,.,.,-507.719,.,.,.,.:255:228:.,16,.:.,277,.:6953:228,16 0/0:.,.,.,.,.,.,.,.,.,-429.709:212:185:.,.,15:.,.,264:5975:185,15 0/0:.,.,.,.,.,.,.,.,.,-465.559:231:205:.,.,15:.,.,284:6452:205,15 . . 0/0:.,.,.,.,.,-442.415,.,.,.,.:222:203:.,12,.:.,185,.:6095:203,12 0/0:.,.,.,.,.,-445.4,.,.,-436.536,-445.812:229:198:.,16,13:.,259,219:6065:198,13,16 0/0:.,.,.,.,.,-338.416,.,.,-327.346,-334.144:177:154:.,11,12:.,176,248:4651:154,12,11 0/0:.,.,.,.,.,.,.,.,.,-353.07:166:150:.,.,9:.,.,173:4650:150,9 1/1:-434.355,-62.0646,0,.,.,.,.,.,.,.:219:1:196,.,.:6137,.,.:36:1,196 chr12 2757755 . GT GC 3936.85 . AB=0;ABP=0;AC=12;AF=1;AN=12;AO=285;CIGAR=1M1X;DP=1333;DPB=314.5;DPRA=0;EPP=107.31;EPPR=5.18177;GTI=0;LEN=1;MEANALT=10;MQM=31.6035;MQMR=24;NS=1;NUMALT=1;ODDS=413.845;PAIRED=0.922807;PAIREDR=1;PAO=7.5;PQA=133.5;PQR=133.5;PRO=7.5;QA=8900;QR=25;RO=1;RPL=211;RPP=146.015;RPPR=5.18177;RPR=74;RUN=1;SAF=10;SAP=538.069;SAR=275;SF=1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-650.804,-93.1891,0:307:1:285:8900:25:1,285 . . . . . . . 1/1:-382.136,-54.2165,0:176:1:165:5215:23:1,165 1/1:-366.023,-42.0461,0:193:5:171:5349:155:5,171 1/1:-515.516,-64.1897,0:236:5:220:7080:142:5,220 . 1/1:-486.494,-65.7765,0:211:1:203:6475:25:1,203 . 1/1:-452.962,-62.6142,0:210:0:196:6145:0:0,196 . . . . . chr12 2760898 . C T 7372.66 . AB=0.427461;ABP=38.2939;AC=14;AF=0.5;AN=28;AO=330;CIGAR=1X;DP=16421;DPB=772;DPRA=0;EPP=6.19513;EPPR=8.13754;GTI=0;LEN=1;MEANALT=3;MQM=31.5818;MQMR=30.1179;NS=1;NUMALT=1;ODDS=966.321;PAIRED=0.866667;PAIREDR=0.882064;PAO=0;PQA=0;PQR=0;PRO=0;QA=8890;QR=12087;RO=407;RPL=168;RPP=3.24719;RPPR=3.01564;RPR=162;RUN=1;SAF=122;SAP=51.6776;SAR=208;SF=0,1;SRF=153;SRP=57.4358;SRR=254;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I\x3bCACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0673;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0673;1000g2015aug_all=0.023762;avsnp147=rs56180838;Kaviar_AF=0.0483758;Kaviar_AC=7479;Kaviar_AN=154602;ExAC_ALL=0.0489;ExAC_AFR=0.0123;ExAC_AMR=0.0261;ExAC_EAS=0;ExAC_FIN=0.0867;ExAC_NFE=0.0683;ExAC_OTH=0.0504;ExAC_SAS=0.0173;CLNALLELEID=140326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4409;dpsi_zscore=-1.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0478;gnomAD_exome_AFR=0.0114;gnomAD_exome_AMR=0.0276;gnomAD_exome_ASJ=0.0506;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0824;gnomAD_exome_NFE=0.0672;gnomAD_exome_OTH=0.0535;gnomAD_exome_SAS=0.0176;gnomAD_genome_ALL=0.0483;gnomAD_genome_AFR=0.0107;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0774;gnomAD_genome_NFE=0.0676;gnomAD_genome_OTH=0.0768;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-434.27,0,-635.483:772:407:330:8890:12087 . . . 0/1:-660.179,0,-1253.85:1355:756:534:14110:22499 . . . . . . . . . . . . . . . 0/1:-1021.49,0,-1287.16:1600:804:729:19784:24142 . 0/1:-505.867,0,-631.599:870:418:404:10530:12326 . 0/1:-656.961,0,-1007.31:1161:607:485:13198:18280 . . . . . . 0/1:-711.429,0,-1103.95:1213:633:513:13909:19034 . . . . . 0/1:-849.974,0,-1252.12:1475:781:628:17163:23761 . . . . . 0/1:-765.967,0,-1007.01:1283:633:589:15246:19186 . . . . . . 0/1:-783.658,0,-1336.09:1550:822:648:16704:24713 0/1:-418.69,0,-547.151:791:379:362:9044:11095 . . . 0/1:-528.779,0,-761.852:905:466:394:10335:13851 . . . . . . . 0/1:-350.276,0,-483.399:669:336:293:7701:9700 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-846.001,0,-1188.69:1436:722:636:16829:21675 . . . . . . . . . . . . . . . . 0/1:-1223.06,0,-1446.38:1341:685:630:19321:21767:685,630 . . . . chr12 2760898 . C T 12056.30 . AB=0.469799;ABP=13.6345;AC=1;AF=0.5;AN=2;AO=630;CIGAR=1X;DP=1341;DPB=1341;DPRA=0;EPP=4.67854;EPPR=36.6412;GTI=0;LEN=1;MEANALT=3;MQM=38.0016;MQMR=39.2715;NS=1;NUMALT=1;ODDS=2776.07;PAIRED=0.965079;PAIREDR=0.954745;PAO=0;PQA=0;PQR=0;PRO=0;QA=19321;QR=21767;RO=685;RPL=312;RPP=3.13438;RPPR=14.0452;RPR=318;RUN=1;SAF=230;SAP=102.622;SAR=400;SF=1;SRF=246;SRP=121.091;SRR=439;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I\x3bCACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0673;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0673;1000g2015aug_all=0.023762;avsnp147=rs56180838;Kaviar_AF=0.0483758;Kaviar_AC=7479;Kaviar_AN=154602;ExAC_ALL=0.0489;ExAC_AFR=0.0123;ExAC_AMR=0.0261;ExAC_EAS=0;ExAC_FIN=0.0867;ExAC_NFE=0.0683;ExAC_OTH=0.0504;ExAC_SAS=0.0173;CLNALLELEID=140326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4409;dpsi_zscore=-1.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0478;gnomAD_exome_AFR=0.0114;gnomAD_exome_AMR=0.0276;gnomAD_exome_ASJ=0.0506;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0824;gnomAD_exome_NFE=0.0672;gnomAD_exome_OTH=0.0535;gnomAD_exome_SAS=0.0176;gnomAD_genome_ALL=0.0483;gnomAD_genome_AFR=0.0107;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0774;gnomAD_genome_NFE=0.0676;gnomAD_genome_OTH=0.0768;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1223.06,0,-1446.38:1341:685:630:19321:21767:685,630 . . . . chr12 2762997 . C A 8546.68 . AB=0.438507;ABP=47.8768;AC=1;AF=0.5;AN=2;AO=599;CIGAR=1X;DP=1366;DPB=1366;DPRA=0;EPP=9.1042;EPPR=13.9737;GTI=0;LEN=1;MEANALT=3;MQM=33.8548;MQMR=34.9512;NS=1;NUMALT=1;ODDS=1967.95;PAIRED=0.884808;PAIREDR=0.919946;PAO=0;PQA=0;PQR=0;PRO=0;QA=16315;QR=22339;RO=737;RPL=224;RPP=85.6676;RPPR=93.2428;RPR=375;RUN=1;SAF=314;SAP=6.05906;SAR=285;SF=0;SRF=395;SRP=11.2866;SRR=342;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=8e-05;esp6500siv2_ea=.;esp6500siv2_all=8e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs369044605;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.39e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.084e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=258740;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9887;dpsi_zscore=-1.465;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.519e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.593e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.463e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-875.143,0,-1345.89:1366:737:599:16315:22339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2763103 . G T 6286.20 . AB=0.414297;ABP=81.5449;AC=1;AF=0.5;AN=2;AO=510;CIGAR=1X;DP=1231;DPB=1231;DPRA=0;EPP=3.43608;EPPR=5.42168;GTI=0;LEN=1;MEANALT=3;MQM=33.5;MQMR=35.0212;NS=1;NUMALT=1;ODDS=1447.45;PAIRED=0.880392;PAIREDR=0.924929;PAO=0;PQA=0;PQR=0;PRO=0;QA=13252;QR=21231;RO=706;RPL=357;RPP=180.202;RPPR=397.209;RPR=153;RUN=1;SAF=295;SAP=30.2601;SAR=215;SF=0;SRF=391;SRP=20.7758;SRR=315;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs373263099;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0002;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0024;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1657;dpsi_zscore=-0.616;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-664.461,0,-1315.48:1231:706:510:13252:21231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2774833 . T C 9694.11 . AB=0.454751;ABP=26.5919;AC=2;AF=0.5;AN=4;AO=603;CIGAR=1X;DP=2609;DPB=1326;DPRA=0;EPP=134.383;EPPR=224.824;GTI=0;LEN=1;MEANALT=3;MQM=35.005;MQMR=36.7232;NS=1;NUMALT=1;ODDS=2087.07;PAIRED=0.900498;PAIREDR=0.904762;PAO=0;PQA=0;PQR=0;PRO=0;QA=16368;QR=19489;RO=672;RPL=313;RPP=4.91529;RPPR=31.5626;RPR=290;RUN=1;SAF=307;SAP=3.44603;SAR=296;SF=0;SRF=350;SRP=5.54368;SRR=322;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001129838:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001129839:exon35:c.T4446C:p.D1482D,CACNA1C:NM_001129846:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001167625:exon35:c.T4452C:p.D1484D,CACNA1C:NM_000719:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129829:exon36:c.T4551C:p.D1517D,CACNA1C:NM_001129830:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129833:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129834:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129835:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129836:exon36:c.T4536C:p.D1512D,CACNA1C:NM_001129840:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129841:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129842:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129843:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129844:exon36:c.T4476C:p.D1492D,CACNA1C:NM_001167623:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001167624:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129831:exon37:c.T4569C:p.D1523D,CACNA1C:NM_001129832:exon37:c.T4545C:p.D1515D,CACNA1C:NM_001129827:exon38:c.T4629C:p.D1543D,CACNA1C:NM_199460:exon38:c.T4629C:p.D1543D;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0411;esp6500siv2_ea=0.0035;esp6500siv2_all=0.0411;esp6500siv2_ea=0.0035;1000g2015aug_all=0.0385383;avsnp147=rs41276710;Kaviar_AF=0.0139067;Kaviar_AC=2150;Kaviar_AN=154602;ExAC_ALL=0.0145;ExAC_AFR=0.1340;ExAC_AMR=0.0075;ExAC_EAS=0.0003;ExAC_FIN=0.0003;ExAC_NFE=0.0031;ExAC_OTH=0.0056;ExAC_SAS=0.0082;CLNALLELEID=99314;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1573;dpsi_zscore=0.633;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0122;gnomAD_exome_AFR=0.1340;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0033;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0.0074;gnomAD_genome_ALL=0.0372;gnomAD_genome_AFR=0.1253;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-928.906,0,-1186.74:1326:672:603:16368:19489 . . . 0/1:-1065.03,0,-1062.19:1283:598:636:17553:17520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2775964 . G A 3685.24 . AB=0.445545;ABP=16.0176;AC=1;AF=0.5;AN=2;AO=225;CIGAR=1X;DP=505;DPB=505;DPRA=0;EPP=10.0459;EPPR=13.0482;GTI=0;LEN=1;MEANALT=3;MQM=37.3022;MQMR=37.2264;NS=1;NUMALT=1;ODDS=848.559;PAIRED=0.942222;PAIREDR=0.920755;PAO=0;PQA=0;PQR=0;PRO=0;QA=6286;QR=7929;RO=265;RPL=113;RPP=3.01995;RPPR=24.3235;RPR=112;RUN=1;SAF=116;SAP=3.4832;SAR=109;SF=0;SRF=135;SRP=3.21516;SRR=130;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752646195;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=2.24e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.314e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0394;dpsi_zscore=-0.215;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.171e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.201e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-376.773,0,-506.478:505:265:225:6286:7929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2778210 . G A 7679.46 . AB=0.48296;ABP=5.60042;AC=1;AF=0.5;AN=2;AO=496;CIGAR=1X;DP=1027;DPB=1027;DPRA=0;EPP=32.4478;EPPR=10.9905;GTI=0;LEN=1;MEANALT=3;MQM=34.7762;MQMR=35.1625;NS=1;NUMALT=1;ODDS=1768.26;PAIRED=0.872984;PAIREDR=0.860417;PAO=0;PQA=0;PQR=0;PRO=0;QA=13552;QR=14707;RO=480;RPL=212;RPP=25.7057;RPPR=20.4002;RPR=284;RUN=1;SAF=221;SAP=15.7765;SAR=275;SF=0;SRF=234;SRP=3.66174;SRR=246;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs369267978;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0002;ExAC_AMR=8.646e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=330298;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1135;dpsi_zscore=0.523;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=8.933e-05;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-782.435,0,-858.785:1027:480:496:13552:14707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2788615 . C T 5222.32 . AB=0.42586;ABP=43.2585;AC=3;AF=0.5;AN=6;AO=359;CIGAR=1X;DP=2780;DPB=843;DPRA=0;EPP=8.09723;EPPR=5.40983;GTI=0;LEN=1;MEANALT=3;MQM=29.9777;MQMR=29.5274;NS=1;NUMALT=1;ODDS=1023.7;PAIRED=0.891365;PAIREDR=0.929224;PAO=0;PQA=0;PQR=0;PRO=0;QA=9987;QR=13498;RO=438;RPL=158;RPP=14.1943;RPPR=3.98201;RPR=201;RUN=1;SAF=266;SAP=184.041;SAR=93;SF=0,1;SRF=320;SRP=205.304;SRR=118;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5121T:p.A1707A,CACNA1C:NM_001129838:exon41:c.C5121T:p.A1707A,CACNA1C:NM_001129839:exon41:c.C5115T:p.A1705A,CACNA1C:NM_001129846:exon41:c.C5064T:p.A1688A,CACNA1C:NM_001167625:exon41:c.C5064T:p.A1688A,CACNA1C:NM_000719:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129829:exon42:c.C5220T:p.A1740A,CACNA1C:NM_001129830:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129833:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129834:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129835:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129836:exon42:c.C5148T:p.A1716A,CACNA1C:NM_001129840:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129841:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129842:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129843:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129844:exon42:c.C5088T:p.A1696A,CACNA1C:NM_001167623:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001167624:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129831:exon43:c.C5181T:p.A1727A,CACNA1C:NM_001129832:exon43:c.C5157T:p.A1719A,CACNA1C:NM_001129827:exon44:c.C5241T:p.A1747A,CACNA1C:NM_199460:exon44:c.C5241T:p.A1747A;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0072;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0072;1000g2015aug_all=0.00299521;avsnp147=rs113595214;Kaviar_AF=0.0056403;Kaviar_AC=872;Kaviar_AN=154602;ExAC_ALL=0.0220;ExAC_AFR=0.0037;ExAC_AMR=0.0291;ExAC_EAS=0;ExAC_FIN=0.0651;ExAC_NFE=0.0261;ExAC_OTH=0.0380;ExAC_SAS=0.0061;CLNALLELEID=99316;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0101;dpsi_zscore=-0.038;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0069;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=6.931e-05;gnomAD_exome_FIN=0.0140;gnomAD_exome_NFE=0.0094;gnomAD_exome_OTH=0.0136;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0089;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0130;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-474.413,0,-705.603:843:438:359:9987:13498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-909.863,0,-970.374:952:468:462:14168:15033:468,462 0/1:-950.016,0,-995.029:985:486:479:14572:15218:486,479 . . . . . . . . . chr12 2788668 . C G 4715.52 . AB=0.491647;ABP=3.51819;AC=1;AF=0.5;AN=2;AO=412;CIGAR=1X;DP=838;DPB=838;DPRA=0;EPP=9.10307;EPPR=10.2082;GTI=0;LEN=1;MEANALT=3;MQM=27.3617;MQMR=30.0291;NS=1;NUMALT=1;ODDS=1085.79;PAIRED=0.929612;PAIREDR=0.949153;PAO=0;PQA=0;PQR=0;PRO=0;QA=10767;QR=11884;RO=413;RPL=257;RPP=57.8452;RPPR=50.462;RPR=155;RUN=1;SAF=290;SAP=151.767;SAR=122;SF=0;SRF=274;SRP=98.8337;SRR=139;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129838:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129839:exon41:c.C5168G:p.A1723G,CACNA1C:NM_001129846:exon41:c.C5117G:p.A1706G,CACNA1C:NM_001167625:exon41:c.C5117G:p.A1706G,CACNA1C:NM_000719:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129829:exon42:c.C5273G:p.A1758G,CACNA1C:NM_001129830:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129833:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129834:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129835:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129836:exon42:c.C5201G:p.A1734G,CACNA1C:NM_001129840:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129841:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129842:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129843:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129844:exon42:c.C5141G:p.A1714G,CACNA1C:NM_001167623:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001167624:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129831:exon43:c.C5234G:p.A1745G,CACNA1C:NM_001129832:exon43:c.C5210G:p.A1737G,CACNA1C:NM_001129827:exon44:c.C5294G:p.A1765G,CACNA1C:NM_199460:exon44:c.C5294G:p.A1765G;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs201492706;Kaviar_AF=0.0005821;Kaviar_AC=90;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.005;ExAC_SAS=0.0007;CLNALLELEID=99318;CLNDN=Long_QT_syndrome|Cardiomyopathy,_restrictive|Brugada_syndrome|Timothy_syndrome|not_specified|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0007196,Orphanet:ORPHA217632|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_pred=B;LRT_score=0.383;LRT_pred=N;MutationTaster_score=0.671;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-3.71;FATHMM_pred=D;PROVEAN_score=-0.97;PROVEAN_pred=N;VEST3_score=0.092;CADD_raw=2.872;CADD_phred=21.7;DANN_score=0.994;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.005;MetaSVM_pred=T;MetaLR_score=0.734;MetaLR_pred=D;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=3.72;phyloP7way_vertebrate=-0.022;phyloP20way_mammalian=-0.666;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=0.917;SiPhy_29way_logOdds=10.797;GDI_full_10282015=.;dpsi_max_tissue=0.0543;dpsi_zscore=0.317;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0062;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-500.74,0,-608.622:838:413:412:10767:11884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2788810 . C T 9420.03 . AB=0.472366;ABP=10.6911;AC=18;AF=0.5;AN=36;AO=547;CIGAR=1X;DP=26436;DPB=1158;DPRA=0;EPP=10.3504;EPPR=29.0264;GTI=0;LEN=1;MEANALT=3;MQM=30.7916;MQMR=30.3322;NS=1;NUMALT=1;ODDS=1614.73;PAIRED=0.939671;PAIREDR=0.834783;PAO=0;PQA=0;PQR=0;PRO=0;QA=14037;QR=17612;RO=575;RPL=310;RPP=24.1653;RPPR=13.6184;RPR=237;RUN=1;SAF=212;SAP=63.0692;SAR=335;SF=0,1;SRF=236;SRP=43.0749;SRR=339;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129838:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129839:exon41:c.C5310T:p.N1770N,CACNA1C:NM_001129846:exon41:c.C5259T:p.N1753N,CACNA1C:NM_001167625:exon41:c.C5259T:p.N1753N,CACNA1C:NM_000719:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129829:exon42:c.C5415T:p.N1805N,CACNA1C:NM_001129830:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129833:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129834:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129835:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129836:exon42:c.C5343T:p.N1781N,CACNA1C:NM_001129840:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129841:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129842:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129843:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129844:exon42:c.C5283T:p.N1761N,CACNA1C:NM_001167623:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001167624:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129831:exon43:c.C5376T:p.N1792N,CACNA1C:NM_001129832:exon43:c.C5352T:p.N1784N,CACNA1C:NM_001129827:exon44:c.C5436T:p.N1812N,CACNA1C:NM_199460:exon44:c.C5436T:p.N1812N;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0445;esp6500siv2_ea=0.0613;esp6500siv2_all=0.0445;esp6500siv2_ea=0.0613;1000g2015aug_all=0.019369;avsnp147=rs72552065;Kaviar_AF=0.044579;Kaviar_AC=6892;Kaviar_AN=154602;ExAC_ALL=0.0454;ExAC_AFR=0.0102;ExAC_AMR=0.0229;ExAC_EAS=0.0005;ExAC_FIN=0.0507;ExAC_NFE=0.0675;ExAC_OTH=0.0441;ExAC_SAS=0.0134;CLNALLELEID=140336;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0393;dpsi_zscore=0.247;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0448;gnomAD_exome_AFR=0.0087;gnomAD_exome_AMR=0.0279;gnomAD_exome_ASJ=0.0944;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0500;gnomAD_exome_NFE=0.0646;gnomAD_exome_OTH=0.0572;gnomAD_exome_SAS=0.0132;gnomAD_genome_ALL=0.0443;gnomAD_genome_AFR=0.0100;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0470;gnomAD_genome_NFE=0.0690;gnomAD_genome_OTH=0.0490;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-718.341,0,-905.654:1158:575:547:14037:17612 0/1:-1625.07,0,-2406.39:2748:1408:1234:32740:43935 . . . . . . . . . . . . . 0/1:-1021.52,0,-1324.11:1544:763:735:19367:24008 0/1:-896.758,0,-1196.34:1467:726:683:17955:22474 . . . . 0/1:-695.825,0,-880.84:1140:548:551:14410:16791 . . . . 0/1:-844.327,0,-1187.33:1383:714:623:16885:22089 0/1:-780.728,0,-1258.12:1378:719:609:15600:22416 . . . . 0/1:-578.462,0,-1072:1115:609:471:12204:19108 . . . . . . . . . . 0/1:-881.013,0,-1160.98:1442:714:669:17628:21684 . . . 0/1:-553.401,0,-807.507:981:508:446:11408:15075 . . . . . . . . . . . . . . . . . . 0/1:-939.804,0,-1335.74:1627:797:761:19362:24410 . . . . . . . . . . 0/1:-826.021,0,-1312.6:1500:786:672:17311:24646 . . . . . . . 0/1:-1656.97,0,-1896.8:1751:885:837:25692:28306:885,837 . . . . . 0/1:-1422.1,0,-1227.28:1300:594:688:21179:19021:594,688 . 0/1:-1349.72,0,-1539.76:1436:733:687:21010:23473:733,687 . . 0/1:-1585.14,0,-2056.57:1763:933:816:25045:30407:933,816 0/1:-1245.42,0,-1534.15:1364:714:639:19499:23027:714,639 0/1:-1309.42,0,-1431.41:1339:663:658:20037:21463:663,658 . chr12 2788879 . G A 11239.99 . AB=0;ABP=0;AC=145;AF=1;AN=204;AO=679;CIGAR=1X;DP=104440;DPB=763;DPRA=0;EPP=59.5805;EPPR=8.61041;GTI=0;LEN=1;MEANALT=3;MQM=29.3991;MQMR=23.4211;NS=1;NUMALT=1;ODDS=828.507;PAIRED=0.842415;PAIREDR=0.578947;PAO=0;PQA=0;PQR=0;PRO=0;QA=18838;QR=460;RO=19;RPL=439;RPP=129.656;RPPR=3.12459;RPR=240;RUN=1;SAF=227;SAP=164.911;SAR=452;SF=0,1;SRF=10;SRP=3.12459;SRR=9;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.5811;esp6500siv2_ea=0.7295;esp6500siv2_all=0.5811;esp6500siv2_ea=0.7295;1000g2015aug_all=0.526358;avsnp147=rs1051375;Kaviar_AF=0.628414;Kaviar_AC=97154;Kaviar_AN=154602;ExAC_ALL=0.6953;ExAC_AFR=0.2792;ExAC_AMR=0.7421;ExAC_EAS=0.6592;ExAC_FIN=0.7857;ExAC_NFE=0.7349;ExAC_OTH=0.7116;ExAC_SAS=0.6798;CLNALLELEID=99320;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0337;dpsi_zscore=-0.185;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6777;gnomAD_exome_AFR=0.2338;gnomAD_exome_AMR=0.7052;gnomAD_exome_ASJ=0.6642;gnomAD_exome_EAS=0.6223;gnomAD_exome_FIN=0.7618;gnomAD_exome_NFE=0.7229;gnomAD_exome_OTH=0.6807;gnomAD_exome_SAS=0.6643;gnomAD_genome_ALL=0.5917;gnomAD_genome_AFR=0.2333;gnomAD_genome_AMR=0.6897;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.6258;gnomAD_genome_FIN=0.7738;gnomAD_genome_NFE=0.7396;gnomAD_genome_OTH=0.7072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1293.47,-182.443,0:763:19:679:18838:460 0/1:-579.625,0,-859.694:1120:587:457:12566:17627 1/1:-1440.05,-216.212,0:827:9:750:20655:222 0/1:-284.002,0,-559.735:625:344:245:6765:10211 0/1:-540.977,0,-759.445:1079:536:467:12481:15611 . 1/1:-1486.67,-207.889,0:879:16:772:21523:402 0/1:-712.857,0,-777.697:1135:545:517:14516:16277 0/1:-448.703,0,-699.412:883:444:361:9581:12973 0/1:-623.342,0,-780.87:1053:512:475:13073:15266 0/1:-529.236,0,-557.017:891:409:420:11540:12137 0/1:-557.534,0,-708.932:994:482:439:12260:14075 1/1:-1538.31,-220.791,0:903:23:802:22401:524 . 0/1:-450.938,0,-596.212:730:382:318:9250:11165 1/1:-2397.92,-358.548,0:1399:22:1256:34779:429 0/1:-474.107,0,-542.215:785:366:359:10110:11001 1/1:-3483.92,-523.277,0:2051:25:1825:49860:518 0/1:-560.893,0,-861.912:1025:526:431:12210:15817 1/1:-1276.2,-185.919,0:754:16:668:18520:339 1/1:-1176.17,-164.876,0:654:9:581:16310:173 0/1:-623.819,0,-764.429:1010:496:454:12711:14776 0/1:-427.727,0,-443.165:694:312:341:9646:9349 0/1:-719.822,0,-993.872:1243:612:539:14980:18383 1/1:-1789.67,-267.253,0:1072:15:947:25967:312 0/1:-411.669,0,-676.992:910:483:360:9657:14203 0/1:-646.609,0,-893.619:1146:574:481:13510:16906 0/1:-595.205,0,-886.739:1070:548:459:12798:16321 0/1:-442.426,0,-663.13:890:441:385:10691:13140 1/1:-1320.59,-187.444,0:722:10:646:18165:236 0/1:-443.038,0,-653.779:803:412:337:9394:12415 1/1:-1891.14,-275.09,0:1043:13:953:26797:246 1/1:-1940.16,-292.588,0:1101:8:1000:28015:177 0/1:-552.243,0,-791.603:1065:525:458:12168:15472 1/1:-1640.42,-234.326,0:957:15:852:23683:377 . 0/1:-686.788,0,-963.46:1262:651:541:14612:19334 0/1:-488.72,0,-562.448:828:388:386:10841:11334 . 0/1:-412.866,0,-620.4:809:413:346:9567:12258 1/1:-1871.91,-280.795,0:1114:21:987:27342:380 . 1/1:-1811.43,-267.453,0:1081:15:954:26408:311 0/1:-615.086,0,-793.075:1059:519:466:12834:15436 0/1:-761.321,0,-909.855:1224:584:562:15628:17473 0/1:-642.852,0,-874.551:1133:569:511:14277:16861 0/1:-548.605,0,-788.58:1030:517:445:12077:15288 1/1:-1104.73,-150.571,0:614:12:545:15642:294 1/1:-1414.12,-201.324,0:809:13:715:20677:304 1/1:-2063.1,-282.26,0:1215:34:1072:30130:790 0/1:-683.56,0,-871.25:1131:551:509:14337:16467 0/1:-409.956,0,-746.432:946:490:386:10682:14588 0/1:-651.033,0,-940.779:1199:617:506:13836:18447 0/1:-733.829,0,-1017.36:1245:623:541:15001:18818 1/1:-1337.54,-207.046,0:799:12:710:19494:201 0/1:-478.319,0,-639.331:827:397:374:9975:11944 1/1:-1751.79,-268.177,0:987:11:908:25025:210 0/1:-357.177,0,-473.589:661:333:298:8182:9898 0/1:-455.794,0,-586.637:785:380:354:9495:11149 0/1:-653.441,0,-893.231:1196:604:514:14411:17657 0/1:-388.348,0,-647.65:806:429:339:9406:12678 0/1:-731.986,0,-942.73:1255:620:574:16159:18475 0/1:-463.191,0,-839.115:893:490:359:9993:14920 1/1:-1242.87,-184.013,0:748:13:652:17719:239 0/1:-731.528,0,-882.884:1234:584:571:16076:17654 . 1/1:-1025.34,-156.642,0:610:9:544:15082:174 0/1:-548.935,0,-825.829:1005:521:429:12194:15671 0/1:-572.547,0,-813.156:1033:497:465:12460:15289 0/1:-557.904,0,-797.955:1102:550:491:13232:16410 0/1:-606.89,0,-790.653:1049:516:477:13006:15518 0/1:-693.217,0,-1138.51:1325:686:555:15459:20850 . 0/1:-309.929,0,-490.854:668:345:285:7698:10217 . 1/1:-2019.58,-307.123,0:1239:25:1087:29579:590 . . . 1/1:-892.685,-123.308,0:528:14:459:12467:342 1/1:-1615.5,-232.335,0:1036:30:911:24781:731 1/1:-2003.28,-306.404,0:1199:18:1076:29404:394 0/1:-722.375,0,-939.598:1292:625:586:16209:18444 1/1:-1542.15,-224.395,0:926:19:826:22533:480 1/1:-1509.53,-224.818,0:989:31:862:23680:758 0/1:-562.641,0,-849.874:1060:545:445:12591:15921 0/1:-474.305,0,-616.76:794:384:369:10010:11552 1/1:-1735.31,-237.061,0:1087:32:961:25985:828 1/1:-1050.21,-154.183,0:577:5:537:14875:101 1/1:-1383.76,-199.204,0:845:21:757:20766:547 1/1:-2102,-283.771,0:1256:43:1110:30614:1105 1/1:-1603.03,-241.155,0:947:9:845:23509:225 0/1:-626.18,0,-916.976:1122:567:488:13655:17361 0/1:-646.052,0,-848.321:1171:562:527:14519:16642 0/1:-737.948,0,-962.307:1295:629:590:16002:18806 . 1/1:-3335.36,-388.534,0:1361:5:1328:39802:158:5,1328 0/1:-1088.77,0,-1354.95:1260:652:580:17171:20328:652,580 0/1:-1270.47,0,-1509.71:1438:731:667:19904:22675:731,667 0/1:-593.713,0,-1024.55:831:479:330:9903:14810:479,330 1/1:-2709.56,-305.812,0:1121:8:1066:32124:205:8,1066 0/1:-1094.81,0,-1397.66:1292:681:588:17527:21013:681,588 . . 0/1:-958.057,0,-1099.9:1081:541:514:15236:16682:541,514 1/1:-3041.5,-349.587,0:1275:12:1232:36519:300:12,1232 1/1:-3093.77,-369.669,0:1306:4:1245:37118:78:4,1245 1/1:-2174.69,-241.18,0:888:10:855:25869:224:10,855 1/1:-2592.51,-297.176,0:1081:8:1037:30942:210:8,1037 1/1:-2287.87,-261.547,0:973:10:935:27677:291:10,935 1/1:-3122.5,-333.545,0:1332:22:1267:38314:653:22,1267 1/1:-2947.84,-342.525,0:1206:6:1160:34840:109:6,1160 0/1:-1165.49,0,-1418.74:1358:704:621:18535:21664:704,621 0/1:-926.056,0,-1092.28:1036:529:488:14750:16503:529,488 0/1:-944.27,0,-995.082:1005:482:498:14821:15161:482,498 1/1:-3004.74,-321.787,0:1275:20:1216:36458:585:20,1216 chr12 2788949 . C G 4434.17 . AB=0.509517;ABP=3.5476;AC=1;AF=0.5;AN=2;AO=348;CIGAR=1X;DP=683;DPB=683;DPRA=0;EPP=10.2236;EPPR=39.6906;GTI=0;LEN=1;MEANALT=2;MQM=28.977;MQMR=31.1622;NS=1;NUMALT=1;ODDS=1021.01;PAIRED=0.841954;PAIREDR=0.840841;PAO=0;PQA=0;PQR=0;PRO=0;QA=9283;QR=10074;RO=333;RPL=150;RPP=17.3869;RPPR=6.45988;RPR=198;RUN=1;SAF=157;SAP=10.2236;SAR=191;SF=0;SRF=139;SRP=22.7361;SRR=194;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5455G:p.L1819V,CACNA1C:NM_001129838:exon41:c.C5455G:p.L1819V,CACNA1C:NM_001129839:exon41:c.C5449G:p.L1817V,CACNA1C:NM_001129846:exon41:c.C5398G:p.L1800V,CACNA1C:NM_001167625:exon41:c.C5398G:p.L1800V,CACNA1C:NM_000719:exon42:c.C5431G:p.L1811V,CACNA1C:NM_001129829:exon42:c.C5554G:p.L1852V,CACNA1C:NM_001129830:exon42:c.C5431G:p.L1811V,CACNA1C:NM_001129833:exon42:c.C5488G:p.L1830V,CACNA1C:NM_001129834:exon42:c.C5488G:p.L1830V,CACNA1C:NM_001129835:exon42:c.C5488G:p.L1830V,CACNA1C:NM_001129836:exon42:c.C5482G:p.L1828V,CACNA1C:NM_001129840:exon42:c.C5431G:p.L1811V,CACNA1C:NM_001129841:exon42:c.C5431G:p.L1811V,CACNA1C:NM_001129842:exon42:c.C5431G:p.L1811V,CACNA1C:NM_001129843:exon42:c.C5431G:p.L1811V,CACNA1C:NM_001129844:exon42:c.C5422G:p.L1808V,CACNA1C:NM_001167623:exon42:c.C5431G:p.L1811V,CACNA1C:NM_001167624:exon42:c.C5431G:p.L1811V,CACNA1C:NM_001129831:exon43:c.C5515G:p.L1839V,CACNA1C:NM_001129832:exon43:c.C5491G:p.L1831V,CACNA1C:NM_001129827:exon44:c.C5575G:p.L1859V,CACNA1C:NM_199460:exon44:c.C5575G:p.L1859V;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.404;SIFT_pred=T;Polyphen2_HDIV_score=0.731;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.531;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.565;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-3.66;FATHMM_pred=D;PROVEAN_score=-0.59;PROVEAN_pred=N;VEST3_score=0.132;CADD_raw=1.294;CADD_phred=12.24;DANN_score=0.943;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=0.646;MetaSVM_pred=D;MetaLR_score=0.789;MetaLR_pred=D;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=4.02;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.807;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=12.741;GDI_full_10282015=.;dpsi_max_tissue=-0.0739;dpsi_zscore=-0.363;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.86e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.435e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-453.99,0,-530.88:683:333:348:9283:10074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2791130 . CGA TGG,CGG 20387.15 . AB=0;ABP=0;AC=188,6;AF=1;AN=222;AO=896;CIGAR=1X1M1X;DP=137300;DPB=975;DPRA=0;EPP=5.81189;EPPR=9.04217;GTI=0;LEN=3;MEANALT=17;MQM=31.9855;MQMR=26;NS=1;NUMALT=1;ODDS=1176.23;PAIRED=0.925223;PAIREDR=0.777778;PAO=1;PQA=32;PQR=0;PRO=0;QA=24279;QR=265;RO=9;RPL=390;RPP=35.6212;RPPR=5.18177;RPR=506;RUN=1;SAF=517;SAP=49.1638;SAR=379;SF=0,1;SRF=6;SRP=5.18177;SRR=3;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.5459_5461TGG,CACNA1C:NM_001167624:exon43:c.5459_5461TGG,CACNA1C:NM_199460:exon45:c.5603_5605TGG;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs71441836;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.5461delA:p.M1821fs,CACNA1C:NM_001167624:exon43:c.5461delA:p.M1821fs,CACNA1C:NM_199460:exon45:c.5605delA:p.M1869fs;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1835.07,-255.405,0,.,.,.:974:9:896,.:24279,.:265 1/1:-2718.97,-389.77,0,.,.,.:1414:5:1302,.:35782,.:125 1/1:-2327.04,-334.143,0,.,.,.:1185:0:1104,.:30010,.:0 1/1:-1441.38,-204.672,0,.,.,.:757:2:693,.:18670,.:51 0/1:-904.624,0,-1267.56,.,.,.:1443:699:639,.:17233,.:20863 0/1:-1121.66,0,-1613.28,.,.,.:1699:833:745,.:20441,.:25525 1/1:-1923.92,-265.077,0,.,.,.:1005:6:922,.:25477,.:167 1/1:-2657.09,-380.786,0,.,.,.:1370:1:1261,.:34711,.:34 1/1:-2253.37,-312.702,0,.,.,.:1137:2:1041,.:28632,.:62 0/1:-901.502,0,-1350.77,.,.,.:1414:699:622,.:17190,.:21427 0/1:-796.084,0,-1003.95,.,.,.:1193:555:555,.:15101,.:16845 1/1:-2309.23,-320.104,0,.,.,.:1149:1:1062,.:29510,.:33 1/1:-2085.49,-296.5,0,.,.,.:1084:3:998,.:27254,.:85 1/1:-1934.43,-286.898,0,.,.,.:1031:1:952,.:25408,.:31 1/1:-1725.04,-247.293,0,.,.,.:904:2:832,.:22609,.:62 1/1:-3753.56,-519.361,0,.,.,.:1877:5:1740,.:47900,.:151 1/2:-1571.21,-867.844,-738.867,-711.064,0,-572.891:920:0:406,437:11009,12891:0 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1/1:-3147.62,-356.454,0,.,.,.:1316:9:1240,.:38682,.:253:9,1240 1/1:-3517.83,-407.688,0,.,.,.:1421:2:1368,.:42807,.:53:2,1368 1/1:-2389.03,-278.308,0,.,.,.:978:1:930,.:28806,.:36:1,930 1/1:-2895.55,-333.396,0,.,.,.:1161:1:1112,.:34673,.:36:1,1112 1/1:-2835.65,-320.337,0,.,.,.:1155:6:1104,.:34330,.:198:6,1104 1/1:-3088.61,-351.172,0,.,.,.:1281:8:1216,.:37615,.:232:8,1216 1/1:-3144.58,-373.578,0,.,.,.:1296:0:1237,.:38172,.:0:0,1237 1/1:-3360.54,-398.407,0,.,.,.:1418:3:1340,.:41247,.:97:3,1340 0/1:-1158.96,0,-1184.48,.,.,.:1218:575:581,.:18034,.:18015:575,581 0/1:-1081.67,0,-1322.06,.,.,.:1199:628:535,.:16898,.:19720:628,535 1/1:-3218.06,-370.3,0,.,.,.:1305:5:1252,.:38849,.:171:5,1252 chr12 2791205 . A G 23443.26 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=968;CIGAR=1X;DP=125809;DPB=1000;DPRA=0;EPP=11.086;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=31.7738;MQMR=3;NS=1;NUMALT=1;ODDS=1340.94;PAIRED=0.940083;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27568;QR=14;RO=1;RPL=522;RPP=15.9674;RPPR=5.18177;RPR=446;RUN=1;SAF=514;SAP=11.086;SAR=454;SF=0,1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5534G:p.K1845R,CACNA1C:NM_001167624:exon43:c.A5534G:p.K1845R,CACNA1C:NM_199460:exon45:c.A5678G:p.K1893R;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=0.9998;esp6500siv2_ea=1;esp6500siv2_all=0.9998;esp6500siv2_ea=1;1000g2015aug_all=1;avsnp147=rs10774054;Kaviar_AF=0.928746;Kaviar_AC=143586;Kaviar_AN=154602;ExAC_ALL=0.9999;ExAC_AFR=0.9988;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=140343;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.4157;dpsi_zscore=-1.680;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9999;gnomAD_exome_AFR=0.9988;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9995;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2060.6,-291.446,0:1000:1:968:27568:14 1/1:-2572.31,-369.143,0:1273:3:1229:35101:55 1/1:-2293.5,-313.071,0:1072:0:1040:30648:0 1/1:-1447.1,-200.798,0:690:2:668:19580:28 1/1:-2533.94,-350.317,0:1206:3:1171:33473:42 1/1:-3183.92,-422.089,0:1463:5:1411:41407:70 1/1:-1857.45,-263.69,0:905:1:879:25001:14 1/1:-2394.54,-337.677,0:1185:6:1138:32826:117 1/1:-2190.91,-293.493,0:1007:1:978:28539:14 1/1:-2683.3,-366.838,0:1271:4:1228:34884:56 1/1:-2176.62,-300.893,0:1052:6:1013:29391:84 1/1:-2202.74,-300.729,0:1033:0:999:28935:0 1/1:-2087.76,-298.618,0:1032:4:1001:28579:56 1/1:-1932.26,-274.877,0:956:2:916:26254:28 1/1:-1943.04,-270.024,0:917:0:897:25846:0 1/1:-3482.27,-471.34,0:1611:3:1573:46176:42 1/1:-1764.5,-251.622,0:871:2:842:23941:48 1/1:-5031.14,-691.111,0:2369:2:2300:66677:28 1/1:-2013.82,-274.374,0:939:2:923:26859:46 1/1:-1605.81,-233.558,0:797:1:777:22460:14 1/1:-1630.53,-226.029,0:789:6:761:22096:102 1/1:-2719.96,-382.926,0:1312:3:1278:36298:42 1/1:-1404.06,-213.14,0:732:2:709:20084:28 1/1:-2962.72,-408.295,0:1390:2:1356:38954:28 1/1:-2672.04,-366.879,0:1258:2:1225:35567:28 1/1:-1792.76,-258.272,0:894:1:861:23945:14 1/1:-2641.54,-363.343,0:1232:0:1207:35247:0 1/1:-2173.8,-297.671,0:1029:2:997:29035:41 1/1:-1913.94,-270.614,0:932:1:902:25896:14 1/1:-1903.77,-257.732,0:878:1:856:24576:14 1/1:-1841.81,-258.633,0:913:3:877:25013:71 1/1:-2713.61,-378.254,0:1312:5:1276:36699:114 1/1:-2520.14,-357.246,0:1229:2:1193:34056:28 1/1:-2466.4,-347.431,0:1187:3:1155:33263:64 1/1:-2336.56,-335.046,0:1147:0:1113:31743:0 1/1:-2993.79,-407.831,0:1421:4:1367:39344:56 1/1:-2866.01,-396.144,0:1360:1:1319:38056:14 1/1:-2202.82,-306.063,0:1046:2:1025:29539:59 1/1:-2264.89,-307.294,0:1058:4:1028:29455:56 1/1:-1598.83,-220.707,0:750:1:733:20981:14 1/1:-2891.3,-407.597,0:1399:3:1357:39232:42 1/1:-2280.8,-304.286,0:1043:1:1014:28854:14 1/1:-2328.95,-326.264,0:1117:2:1088:30981:28 1/1:-2462.13,-328.994,0:1128:2:1099:32102:28 1/1:-2883.17,-384.761,0:1315:4:1282:37246:56 1/1:-2195.2,-307.688,0:1064:2:1025:29511:35 1/1:-2274.65,-321.297,0:1101:2:1067:30738:28 1/1:-1449.56,-205.052,0:703:1:681:19128:14 1/1:-1959.83,-271.228,0:925:0:901:26147:0 1/1:-2709.59,-377.136,0:1296:2:1262:36899:46 1/1:-2978.1,-395.905,0:1353:3:1329:38373:67 1/1:-1942.43,-292.804,0:1007:2:977:27436:28 1/1:-3023.9,-406.966,0:1401:2:1362:39053:41 1/1:-3039.51,-407.822,0:1428:9:1385:39332:232 1/1:-1413.26,-216.118,0:750:1:721:20470:14 1/1:-1925.25,-267.48,0:924:2:893:25418:46 1/1:-2472.69,-343.132,0:1175:1:1141:33197:14 1/1:-1302.66,-193.76,0:677:4:651:17778:56 1/1:-1751.97,-248.553,0:857:2:830:23752:28 1/1:-2797.65,-374.782,0:1272:0:1245:35733:0 1/1:-1335.35,-198.135,0:689:3:659:19211:42 1/1:-3104.98,-429.36,0:1489:4:1437:40682:56 1/1:-2278.44,-312.975,0:1065:2:1044:30387:28 1/1:-1413.76,-212.525,0:729:2:707:19834:35 1/1:-2677.9,-366.396,0:1278:4:1238:35544:96 1/1:-2718.07,-355.151,0:1223:7:1195:34842:98 1/1:-1213.96,-183.368,0:629:2:612:17372:28 1/1:-2443.02,-337.224,0:1162:3:1122:32126:86 1/1:-2427.12,-329.628,0:1120:0:1095:31439:0 1/1:-2341.55,-337.425,0:1165:4:1128:31692:63 1/1:-2368.64,-323.44,0:1137:3:1098:31310:90 1/1:-3267.61,-432.151,0:1483:5:1447:42698:70 1/1:-2756.06,-392.248,0:1341:2:1304:37271:28 1/1:-1397.76,-216.127,0:748:1:721:20072:14 1/1:-1983.71,-274.519,0:942:1:915:26199:14 1/1:-2710.17,-387.742,0:1343:4:1302:36700:63 1/1:-3010.64,-395.64,0:1354:3:1320:37818:64 1/1:-2957.82,-394.575,0:1359:2:1317:38011:28 1/1:-1815.25,-249.253,0:853:0:828:23828:0 1/1:-1580.06,-222.753,0:771:1:747:21129:27 1/1:-2355.18,-331.113,0:1146:1:1103:31608:14 1/1:-2589.4,-372.705,0:1278:3:1248:35341:55 1/1:-2909.29,-405.703,0:1390:3:1352:38316:55 1/1:-2143.19,-300.99,0:1036:2:1006:28888:28 1/1:-1992.38,-288.137,0:979:1:957:26995:14 1/1:-2380.09,-326.275,0:1114:1:1085:30936:14 1/1:-1681.94,-233.9,0:797:0:777:22605:0 1/1:-2622.89,-367.865,0:1263:2:1223:35360:28 1/1:-1380.5,-196.573,0:670:0:653:18320:0 1/1:-2266.14,-314.65,0:1086:4:1055:30327:74 1/1:-3119.14,-438.027,0:1490:2:1458:41985:28 1/1:-1889.18,-266.39,0:921:2:888:25195:50 1/1:-2866.64,-395.312,0:1360:3:1321:37428:67 1/1:-2575.9,-361.69,0:1242:2:1210:34930:41 1/1:-2568.48,-361.967,0:1247:3:1212:34379:77 . 1/1:-2912.32,-343.586,0:1175:2:1147:35817:28:2,1147 1/1:-2680.08,-321.491,0:1087:1:1071:33895:14:1,1071 1/1:-3138.51,-371.211,0:1259:2:1236:38871:28:2,1236 1/1:-1677.72,-205.302,0:688:0:682:20986:0:0,682 1/1:-2370.12,-282.347,0:964:1:941:29455:14:1,941 1/1:-2736.89,-325.755,0:1095:1:1082:33934:36:1,1082 1/1:-2603.52,-307.653,0:1037:0:1022:32001:0:0,1022 1/1:-2728.04,-327.437,0:1119:1:1093:33682:21:1,1093 1/1:-2698.9,-319.092,0:1077:0:1060:33157:0:0,1060 1/1:-2536.7,-309.158,0:1045:0:1027:32093:0:0,1027 1/1:-2772.62,-328.706,0:1112:1:1095:34670:14:1,1095 1/1:-2032.39,-239.299,0:815:1:798:25213:14:1,798 1/1:-2212.91,-264.093,0:907:2:890:27706:63:2,890 1/1:-2294.35,-274.238,0:929:0:911:28465:0:0,911 1/1:-2360.71,-283.57,0:977:0:942:29803:0:0,942 1/1:-2555.83,-313.974,0:1061:0:1043:32117:0:0,1043 1/1:-2743.67,-334.797,0:1137:1:1112:34471:14:1,1112 1/1:-2627.14,-306.449,0:1029:0:1018:32082:0:0,1018 1/1:-2240.55,-260.993,0:884:0:867:27244:0:0,867 1/1:-2595.3,-316.383,0:1060:0:1051:32467:0:0,1051 chr12 2791722 . C T 15728.10 . AB=0.41056;ABP=155.665;AC=1;AF=0.5;AN=2;AO=902;CIGAR=1X;DP=2197;DPB=2197;DPRA=0;EPP=590.502;EPPR=661.778;GTI=0;LEN=1;MEANALT=3;MQM=39.0211;MQMR=37.9161;NS=1;NUMALT=1;ODDS=3621.53;PAIRED=0.980044;PAIREDR=0.973872;PAO=0;PQA=0;PQR=0;PRO=0;QA=27351;QR=39573;RO=1263;RPL=457;RPP=3.35697;RPPR=8.5963;RPR=445;RUN=1;SAF=459;SAP=3.62659;SAR=443;SF=1;SRF=655;SRP=6.80823;SRR=608;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon42:c.C5475T:p.H1825H,CACNA1C:NM_001129838:exon42:c.C5475T:p.H1825H,CACNA1C:NM_001129839:exon42:c.C5469T:p.H1823H,CACNA1C:NM_001129846:exon42:c.C5418T:p.H1806H,CACNA1C:NM_000719:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129829:exon43:c.C5574T:p.H1858H,CACNA1C:NM_001129833:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129834:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129835:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129836:exon43:c.C5502T:p.H1834H,CACNA1C:NM_001129840:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129841:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129842:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129843:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129844:exon43:c.C5442T:p.H1814H,CACNA1C:NM_001167623:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001167625:exon43:c.C5631T:p.H1877H,CACNA1C:NM_001129830:exon44:c.C5556T:p.H1852H,CACNA1C:NM_001129831:exon44:c.C5535T:p.H1845H,CACNA1C:NM_001129832:exon44:c.C5511T:p.H1837H,CACNA1C:NM_001167624:exon44:c.C5556T:p.H1852H,CACNA1C:NM_001129827:exon45:c.C5595T:p.H1865H,CACNA1C:NM_199460:exon46:c.C5700T:p.H1900H;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000199681;avsnp147=rs113239186;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0004;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=99321;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.5894;dpsi_zscore=2.354;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1656.56,0,-2645.43:2197:1263:902:27351:39573:1263,902 . . . . . . . . . . chr12 2794932 . A G 2770.45 . AB=0.43144;ABP=74.1731;AC=1;AF=0.5;AN=2;AO=752;CIGAR=1X;DP=1743;DPB=1743;DPRA=0;EPP=111.688;EPPR=136.841;GTI=0;LEN=1;MEANALT=3;MQM=12.6995;MQMR=15.8282;NS=1;NUMALT=1;ODDS=637.919;PAIRED=0.970745;PAIREDR=0.979296;PAO=0;PQA=0;PQR=0;PRO=0;QA=22700;QR=29571;RO=966;RPL=315;RPP=45.9893;RPPR=42.1777;RPR=437;RUN=1;SAF=386;SAP=4.16534;SAR=366;SF=1;SRF=488;SRP=3.23509;SRR=478;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon43:c.A5628G:p.Q1876Q,CACNA1C:NM_001129838:exon43:c.A5628G:p.Q1876Q,CACNA1C:NM_001129839:exon43:c.A5622G:p.Q1874Q,CACNA1C:NM_001129846:exon43:c.A5571G:p.Q1857Q,CACNA1C:NM_000719:exon44:c.A5604G:p.Q1868Q,CACNA1C:NM_001129829:exon44:c.A5727G:p.Q1909Q,CACNA1C:NM_001129833:exon44:c.A5661G:p.Q1887Q,CACNA1C:NM_001129834:exon44:c.A5661G:p.Q1887Q,CACNA1C:NM_001129835:exon44:c.A5661G:p.Q1887Q,CACNA1C:NM_001129836:exon44:c.A5655G:p.Q1885Q,CACNA1C:NM_001129840:exon44:c.A5604G:p.Q1868Q,CACNA1C:NM_001129841:exon44:c.A5604G:p.Q1868Q,CACNA1C:NM_001129842:exon44:c.A5604G:p.Q1868Q,CACNA1C:NM_001129843:exon44:c.A5604G:p.Q1868Q,CACNA1C:NM_001129844:exon44:c.A5595G:p.Q1865Q,CACNA1C:NM_001167623:exon44:c.A5604G:p.Q1868Q,CACNA1C:NM_001167625:exon44:c.A5784G:p.Q1928Q,CACNA1C:NM_001129830:exon45:c.A5709G:p.Q1903Q,CACNA1C:NM_001129831:exon45:c.A5688G:p.Q1896Q,CACNA1C:NM_001129832:exon45:c.A5664G:p.Q1888Q,CACNA1C:NM_001167624:exon45:c.A5709G:p.Q1903Q,CACNA1C:NM_001129827:exon46:c.A5748G:p.Q1916Q,CACNA1C:NM_199460:exon47:c.A5853G:p.Q1951Q;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00938498;avsnp147=rs11062316;Kaviar_AF=0.0026132;Kaviar_AC=404;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0317;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0022;ExAC_SAS=6.065e-05;CLNALLELEID=99322;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5108;dpsi_zscore=-1.102;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0296;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0088;gnomAD_genome_AFR=0.0305;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-306.573,0,-765.545:1743:966:752:22700:29571:966,752 . . . . . . . . . . . . chr12 2794977 . G A 1183.74 . AB=0;ABP=0;AC=1;AF=0;AN=4;AO=107;CIGAR=1X;DP=3323;DPB=1660;DPRA=0;EPP=5.46589;EPPR=140.014;GTI=0;LEN=1;MEANALT=3;MQM=4.61682;MQMR=16.4005;NS=1;NUMALT=1;ODDS=1807.68;PAIRED=0.943925;PAIREDR=0.973907;PAO=0;PQA=0;PQR=0;PRO=0;QA=3085;QR=48238;RO=1533;RPL=63;RPP=10.3365;RPPR=32.7919;RPR=44;RUN=1;SAF=29;SAP=51.7365;SAR=78;SF=1;SRF=652;SRP=77.2922;SRR=881;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon43:c.G5673A:p.P1891P,CACNA1C:NM_001129838:exon43:c.G5673A:p.P1891P,CACNA1C:NM_001129839:exon43:c.G5667A:p.P1889P,CACNA1C:NM_001129846:exon43:c.G5616A:p.P1872P,CACNA1C:NM_000719:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129829:exon44:c.G5772A:p.P1924P,CACNA1C:NM_001129833:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129834:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129835:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129836:exon44:c.G5700A:p.P1900P,CACNA1C:NM_001129840:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129841:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129842:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129843:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129844:exon44:c.G5640A:p.P1880P,CACNA1C:NM_001167623:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001167625:exon44:c.G5829A:p.P1943P,CACNA1C:NM_001129830:exon45:c.G5754A:p.P1918P,CACNA1C:NM_001129831:exon45:c.G5733A:p.P1911P,CACNA1C:NM_001129832:exon45:c.G5709A:p.P1903P,CACNA1C:NM_001167624:exon45:c.G5754A:p.P1918P,CACNA1C:NM_001129827:exon46:c.G5793A:p.P1931P,CACNA1C:NM_199460:exon47:c.G5898A:p.P1966P;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0359425;avsnp147=rs56270948;Kaviar_AF=0.0253748;Kaviar_AC=3923;Kaviar_AN=154602;ExAC_ALL=0.0280;ExAC_AFR=0.0585;ExAC_AMR=0.0106;ExAC_EAS=0.0412;ExAC_FIN=0.0317;ExAC_NFE=0.0299;ExAC_OTH=0.0210;ExAC_SAS=0.0072;CLNALLELEID=99323;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9459;dpsi_zscore=-1.439;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0208;gnomAD_exome_AFR=0.0227;gnomAD_exome_AMR=0.0091;gnomAD_exome_ASJ=0.0240;gnomAD_exome_EAS=0.0409;gnomAD_exome_FIN=0.0273;gnomAD_exome_NFE=0.0237;gnomAD_exome_OTH=0.0213;gnomAD_exome_SAS=0.0048;gnomAD_genome_ALL=0.0182;gnomAD_genome_AFR=0.0097;gnomAD_genome_AMR=0.0121;gnomAD_genome_ASJ=0.0268;gnomAD_genome_EAS=0.0379;gnomAD_genome_FIN=0.0201;gnomAD_genome_NFE=0.0206;gnomAD_genome_OTH=0.0187;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,-450.417,-2114.79:1660:1533:107:3085:48238:1533,107 . . . . . . . 0/1:-141.428,0,-640.479:1663:816:823:25420:25674:816,823 . . . chr12 2795019 . C T 690.78 . AB=0;ABP=0;AC=1;AF=0;AN=18;AO=92;CIGAR=1X;DP=13247;DPB=1614;DPRA=0;EPP=3.10471;EPPR=5.95948;GTI=0;LEN=1;MEANALT=3;MQM=4.66304;MQMR=17.1308;NS=1;NUMALT=1;ODDS=1771.81;PAIRED=0.923913;PAIREDR=0.977197;PAO=0;PQA=0;PQR=0;PRO=0;QA=3024;QR=47380;RO=1491;RPL=41;RPP=5.3706;RPPR=91.863;RPR=51;RUN=1;SAF=42;SAP=4.52089;SAR=50;SF=1;SRF=651;SRP=55.0339;SRR=840;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs66611965;Kaviar_AF=0.017613;Kaviar_AC=2723;Kaviar_AN=154602;ExAC_ALL=0.0216;ExAC_AFR=0.0812;ExAC_AMR=0.0100;ExAC_EAS=0.0186;ExAC_FIN=0.0316;ExAC_NFE=0.0166;ExAC_OTH=0.0262;ExAC_SAS=0.0118;CLNALLELEID=99325;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0716;dpsi_zscore=0.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0076;gnomAD_exome_AFR=0.0302;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0.0047;gnomAD_exome_FIN=0.0134;gnomAD_exome_NFE=0.0070;gnomAD_exome_OTH=0.0068;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0080;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,-438.408,-2147.52:1614:1491:92:3024:47380:1491,92 . . . 0/1:-363.339,0,-564.687:1539:744:770:24282:23052:744,770 . 0/0:0,-408.56,-1711.6:1497:1382:96:3194:43545:1382,96 . 0/0:0,-412.816,-1918.01:1549:1413:111:3615:44211:1413,111 . 0/0:0,-320.367,-1531.04:1176:1081:75:2406:33607:1081,75 . 0/0:0,-381.576,-1822.28:1410:1298:86:2654:40725:1298,86 . . 0/0:0,-417.912,-1655.24:1544:1414:96:3062:44548:1414,96 . 0/0:0,-341.611,-1646.19:1259:1144:97:3162:36483:1144,97 0/0:0,-458.668,-2097.67:1659:1530:101:3217:47810:1530,101 chr12 2797746 . G A 4736.05 . AB=0.441614;ABP=30.9029;AC=1;AF=0.5;AN=2;AO=416;CIGAR=1X;DP=942;DPB=942;DPRA=0;EPP=7.10269;EPPR=3.60075;GTI=0;LEN=1;MEANALT=3;MQM=27.0817;MQMR=30.2921;NS=1;NUMALT=1;ODDS=1090.52;PAIRED=0.932692;PAIREDR=0.914607;PAO=0;PQA=0;PQR=0;PRO=0;QA=10613;QR=13094;RO=445;RPL=201;RPP=4.0334;RPPR=18.8645;RPR=215;RUN=1;SAF=179;SAP=20.57;SAR=237;SF=0;SRF=236;SRP=6.56761;SRR=209;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129838:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129839:exon45:c.G5936A:p.R1979Q,CACNA1C:NM_001129846:exon45:c.G5885A:p.R1962Q,CACNA1C:NM_000719:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129829:exon46:c.G6041A:p.R2014Q,CACNA1C:NM_001129833:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129834:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129835:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129836:exon46:c.G5969A:p.R1990Q,CACNA1C:NM_001129840:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129841:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129842:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129843:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129844:exon46:c.G5909A:p.R1970Q,CACNA1C:NM_001167623:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001167625:exon46:c.G6098A:p.R2033Q,CACNA1C:NM_001129830:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129831:exon47:c.G6002A:p.R2001Q,CACNA1C:NM_001129832:exon47:c.G5978A:p.R1993Q,CACNA1C:NM_001167624:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129827:exon48:c.G6062A:p.R2021Q,CACNA1C:NM_199460:exon49:c.G6167A:p.R2056Q;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00319489;avsnp147=rs112414325;Kaviar_AF=0.0030918;Kaviar_AC=478;Kaviar_AN=154602;ExAC_ALL=0.0036;ExAC_AFR=0.0002;ExAC_AMR=0.0013;ExAC_EAS=0.0001;ExAC_FIN=0.0003;ExAC_NFE=0.0021;ExAC_OTH=0.0045;ExAC_SAS=0.0162;CLNALLELEID=99326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|short_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.561;SIFT_pred=T;Polyphen2_HDIV_score=0.977;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.642;Polyphen2_HVAR_pred=P;LRT_score=0.434;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.2;MutationAssessor_pred=L;FATHMM_score=0.53;FATHMM_pred=T;PROVEAN_score=-0.18;PROVEAN_pred=N;VEST3_score=0.509;CADD_raw=2.269;CADD_phred=17.96;DANN_score=0.825;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.938;MetaSVM_pred=T;MetaLR_score=0.158;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.97;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.873;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=12.655;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1413437#"Sudden_cardiac_death";gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0129;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0151;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-483.875,0,-686.817:942:445:416:10613:13094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2797829 . G A 10796.80 . AB=0.45937;ABP=28.9491;AC=1;AF=0.5;AN=2;AO=831;CIGAR=1X;DP=1809;DPB=1809;DPRA=0;EPP=16.9354;EPPR=21.1213;GTI=0;LEN=1;MEANALT=3;MQM=29.6077;MQMR=29.3605;NS=1;NUMALT=1;ODDS=2486.05;PAIRED=0.906137;PAIREDR=0.877069;PAO=0;PQA=0;PQR=0;PRO=0;QA=22398;QR=25071;RO=846;RPL=442;RPP=10.3505;RPPR=10.4949;RPR=389;RUN=1;SAF=454;SAP=18.5033;SAR=377;SF=0;SRF=427;SRP=3.17457;SRR=419;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon45:c.G6025A:p.G2009S,CACNA1C:NM_001129838:exon45:c.G6025A:p.G2009S,CACNA1C:NM_001129839:exon45:c.G6019A:p.G2007S,CACNA1C:NM_001129846:exon45:c.G5968A:p.G1990S,CACNA1C:NM_000719:exon46:c.G6001A:p.G2001S,CACNA1C:NM_001129829:exon46:c.G6124A:p.G2042S,CACNA1C:NM_001129833:exon46:c.G6058A:p.G2020S,CACNA1C:NM_001129834:exon46:c.G6058A:p.G2020S,CACNA1C:NM_001129835:exon46:c.G6058A:p.G2020S,CACNA1C:NM_001129836:exon46:c.G6052A:p.G2018S,CACNA1C:NM_001129840:exon46:c.G6001A:p.G2001S,CACNA1C:NM_001129841:exon46:c.G6001A:p.G2001S,CACNA1C:NM_001129842:exon46:c.G6001A:p.G2001S,CACNA1C:NM_001129843:exon46:c.G6001A:p.G2001S,CACNA1C:NM_001129844:exon46:c.G5992A:p.G1998S,CACNA1C:NM_001167623:exon46:c.G6001A:p.G2001S,CACNA1C:NM_001167625:exon46:c.G6181A:p.G2061S,CACNA1C:NM_001129830:exon47:c.G6106A:p.G2036S,CACNA1C:NM_001129831:exon47:c.G6085A:p.G2029S,CACNA1C:NM_001129832:exon47:c.G6061A:p.G2021S,CACNA1C:NM_001167624:exon47:c.G6106A:p.G2036S,CACNA1C:NM_001129827:exon48:c.G6145A:p.G2049S,CACNA1C:NM_199460:exon49:c.G6250A:p.G2084S;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs552478740;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=5.969e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=6.189e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.273;SIFT_pred=T;Polyphen2_HDIV_score=0.623;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.105;Polyphen2_HVAR_pred=B;LRT_score=0.146;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=-3.63;FATHMM_pred=D;PROVEAN_score=-0.26;PROVEAN_pred=N;VEST3_score=0.226;CADD_raw=-0.813;CADD_phred=0.040;DANN_score=0.756;fathmm-MKL_coding_score=0.085;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.261;MetaSVM_pred=T;MetaLR_score=0.505;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.969;phyloP7way_vertebrate=0.038;phyloP20way_mammalian=-1.423;phastCons7way_vertebrate=0.017;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.503;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.135e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.229e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.252e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1091.77,0,-1237.7:1809:846:831:22398:25071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 2800273 . G A 3665.95 . AB=0.431853;ABP=29.3506;AC=1;AF=0.5;AN=2;AO=282;CIGAR=1X;DP=653;DPB=653;DPRA=0;EPP=16.5936;EPPR=18.8836;GTI=0;LEN=1;MEANALT=3;MQM=31.6454;MQMR=31.4971;NS=1;NUMALT=1;ODDS=844.117;PAIRED=0.847518;PAIREDR=0.880117;PAO=0;PQA=0;PQR=0;PRO=0;QA=7847;QR=10219;RO=342;RPL=179;RPP=47.487;RPPR=24.3695;RPR=103;RUN=1;SAF=113;SAP=27.1583;SAR=169;SF=0;SRF=158;SRP=7.30245;SRR=184;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon46:c.G6349A:p.G2117R,CACNA1C:NM_001129838:exon46:c.G6349A:p.G2117R,CACNA1C:NM_001129839:exon46:c.G6343A:p.G2115R,CACNA1C:NM_001129846:exon46:c.G6292A:p.G2098R,CACNA1C:NM_000719:exon47:c.G6325A:p.G2109R,CACNA1C:NM_001129829:exon47:c.G6448A:p.G2150R,CACNA1C:NM_001129833:exon47:c.G6382A:p.G2128R,CACNA1C:NM_001129834:exon47:c.G6382A:p.G2128R,CACNA1C:NM_001129835:exon47:c.G6382A:p.G2128R,CACNA1C:NM_001129836:exon47:c.G6376A:p.G2126R,CACNA1C:NM_001129840:exon47:c.G6325A:p.G2109R,CACNA1C:NM_001129841:exon47:c.G6325A:p.G2109R,CACNA1C:NM_001129842:exon47:c.G6325A:p.G2109R,CACNA1C:NM_001129843:exon47:c.G6325A:p.G2109R,CACNA1C:NM_001129844:exon47:c.G6316A:p.G2106R,CACNA1C:NM_001167623:exon47:c.G6325A:p.G2109R,CACNA1C:NM_001167625:exon47:c.G6505A:p.G2169R,CACNA1C:NM_001129830:exon48:c.G6430A:p.G2144R,CACNA1C:NM_001129831:exon48:c.G6409A:p.G2137R,CACNA1C:NM_001129832:exon48:c.G6385A:p.G2129R,CACNA1C:NM_001167624:exon48:c.G6430A:p.G2144R,CACNA1C:NM_001129827:exon49:c.G6469A:p.G2157R,CACNA1C:NM_199460:exon50:c.G6574A:p.G2192R;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.986;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.875;Polyphen2_HVAR_pred=P;LRT_score=0.998;LRT_pred=N;MutationTaster_score=0.980;MutationTaster_pred=N;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=0.41;FATHMM_pred=T;PROVEAN_score=-0.86;PROVEAN_pred=N;VEST3_score=0.431;CADD_raw=3.985;CADD_phred=23.6;DANN_score=0.990;fathmm-MKL_coding_score=0.942;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.834;MetaSVM_pred=T;MetaLR_score=0.264;MetaLR_pred=T;integrated_fitCons_score=0.496;integrated_confidence_value=0;GERP++_RS=3.57;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.982;phastCons7way_vertebrate=0.032;phastCons20way_mammalian=0.171;SiPhy_29way_logOdds=13.121;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-383.582,0,-560.981:653:342:282:7847:10219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 5153493 . G A 1655.82 . AB=0.49004;ABP=3.22658;AC=1;AF=0.5;AN=2;AO=123;CIGAR=1X;DP=251;DPB=251;DPRA=0;EPP=27.179;EPPR=20.4028;GTI=0;LEN=1;MEANALT=3;MQM=30.374;MQMR=28.181;NS=1;NUMALT=1;ODDS=319.739;PAIRED=0.910569;PAIREDR=0.742857;PAO=0;PQA=0;PQR=0;PRO=0;QA=3320;QR=3231;RO=105;RPL=53;RPP=8.11238;RPPR=22.8844;RPR=70;RUN=1;SAF=71;SAP=9.38348;SAR=52;SF=0;SRF=54;SRP=3.19643;SRR=51;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G180A:p.A60A;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.00299521;avsnp147=rs376660949;Kaviar_AF=0.0020051;Kaviar_AC=310;Kaviar_AN=154602;ExAC_ALL=0.0121;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0013;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0069;ExAC_SAS=0.0255;CLNALLELEID=333126;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=8.603e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0206;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-176.175,0,-149.536:251:105:123:3320:3231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 5153573 . G A 2877.40 . AB=0.373065;ABP=93.4188;AC=2;AF=0.5;AN=4;AO=241;CIGAR=1X;DP=1389;DPB=646;DPRA=0;EPP=11.6692;EPPR=12.8806;GTI=0;LEN=1;MEANALT=3;MQM=27.3859;MQMR=28.4489;NS=1;NUMALT=1;ODDS=499.679;PAIRED=0.917012;PAIREDR=0.889205;PAO=0;PQA=0;PQR=0;PRO=0;QA=5864;QR=10197;RO=352;RPL=120;RPP=3.01931;RPPR=12.8806;RPR=121;RUN=1;SAF=146;SAP=26.446;SAR=95;SF=0,1;SRF=184;SRP=4.58955;SRR=168;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G260A:p.R87Q;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000199681;avsnp147=rs71537801;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0031;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-4.33;FATHMM_pred=D;PROVEAN_score=0.26;PROVEAN_pred=N;VEST3_score=0.139;CADD_raw=-0.949;CADD_phred=0.020;DANN_score=0.927;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.187;MetaSVM_pred=T;MetaLR_score=0.638;MetaLR_pred=D;integrated_fitCons_score=0.437;integrated_confidence_value=0;GERP++_RS=-2.27;phyloP7way_vertebrate=-0.954;phyloP20way_mammalian=-1.053;phastCons7way_vertebrate=0.504;phastCons20way_mammalian=0.079;SiPhy_29way_logOdds=1.28;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM067994#"Altered_channel_function";gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=6.69e-05;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=3.496e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-232.109,0,-515.116:646:352:241:5864:10197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-642.416,0,-767.2:743:368:346:10014:11544:368,346 . . . . . chr12 5153694 . C T 7210.26 . AB=0.456585;ABP=19.791;AC=5;AF=0.5;AN=10;AO=468;CIGAR=1X;DP=4565;DPB=1025;DPRA=0;EPP=140.277;EPPR=110.849;GTI=0;LEN=1;MEANALT=3;MQM=32.1239;MQMR=31.7981;NS=1;NUMALT=1;ODDS=1624.95;PAIRED=0.882479;PAIREDR=0.831776;PAO=0;PQA=0;PQR=0;PRO=0;QA=13835;QR=17014;RO=535;RPL=211;RPP=12.8283;RPPR=32.3353;RPR=257;RUN=1;SAF=233;SAP=3.02886;SAR=235;SF=0,1;SRF=276;SRP=4.1833;SRR=259;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C381T:p.S127S;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0411;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0411;1000g2015aug_all=0.0147764;avsnp147=rs45504599;Kaviar_AF=0.0275029;Kaviar_AC=4252;Kaviar_AN=154602;ExAC_ALL=0.0267;ExAC_AFR=0.0082;ExAC_AMR=0.0123;ExAC_EAS=0.0001;ExAC_FIN=0.0288;ExAC_NFE=0.0390;ExAC_OTH=0.0266;ExAC_SAS=0.0128;CLNALLELEID=325381;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0258;gnomAD_exome_AFR=0.0073;gnomAD_exome_AMR=0.0120;gnomAD_exome_ASJ=0.0201;gnomAD_exome_EAS=5.806e-05;gnomAD_exome_FIN=0.0289;gnomAD_exome_NFE=0.0403;gnomAD_exome_OTH=0.0242;gnomAD_exome_SAS=0.0123;gnomAD_genome_ALL=0.0268;gnomAD_genome_AFR=0.0082;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0133;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0272;gnomAD_genome_NFE=0.0411;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-729.584,0,-936.666:1025:535:468:13835:17014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-722.668,0,-911.122:1005:509:476:14073:16176 . . . . . . 0/1:-615.829,0,-584.879:572:271:293:9235:8826:271,293 0/1:-927.459,0,-1045.11:949:489:451:14212:15633:489,451 . 0/1:-918.381,0,-1166.72:1014:531:467:14297:17172:531,467 . . . . . . . . . . . . . chr12 5153883 . C T 2589.50 . AB=0.446541;ABP=14.851;AC=1;AF=0.5;AN=2;AO=213;CIGAR=1X;DP=477;DPB=477;DPRA=0;EPP=25.5304;EPPR=32.0437;GTI=0;LEN=1;MEANALT=3;MQM=28.2958;MQMR=29.1811;NS=1;NUMALT=1;ODDS=596.255;PAIRED=0.981221;PAIREDR=0.958848;PAO=0;PQA=0;PQR=0;PRO=0;QA=5724;QR=7653;RO=243;RPL=95;RPP=8.4033;RPPR=3.01924;RPR=118;RUN=1;SAF=109;SAP=3.26517;SAR=104;SF=0;SRF=127;SRP=4.09157;SRR=116;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C570T:p.N190N;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0062;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0062;1000g2015aug_all=0.000599042;avsnp147=rs12720444;Kaviar_AF=0.0037128;Kaviar_AC=574;Kaviar_AN=154602;ExAC_ALL=0.0035;ExAC_AFR=0.0007;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0103;ExAC_NFE=0.0050;ExAC_OTH=0.0044;ExAC_SAS=0.0001;CLNALLELEID=463149;CLNDN=Atrial_fibrillation,_familial,_7;CLNDISDB=MedGen:C2677106,OMIM:612240;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0078;gnomAD_exome_NFE=0.0055;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0033;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-269.417,0,-380.241:477:243:213:5724:7653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 5154064 . G A 4620.46 . AB=0.484067;ABP=4.46344;AC=1;AF=0.5;AN=2;AO=319;CIGAR=1X;DP=659;DPB=659;DPRA=0;EPP=4.97756;EPPR=10.5735;GTI=0;LEN=1;MEANALT=3;MQM=33.4639;MQMR=34.0136;NS=1;NUMALT=1;ODDS=1063.9;PAIRED=0.949843;PAIREDR=0.962585;PAO=0;PQA=0;PQR=0;PRO=0;QA=8392;QR=9033;RO=294;RPL=123;RPP=39.2855;RPPR=18.639;RPR=196;RUN=1;SAF=156;SAP=3.34385;SAR=163;SF=0;SRF=159;SRP=7.26461;SRR=135;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G751A:p.A251T;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0127;1000g2015aug_all=0.0081869;avsnp147=rs12720442;Kaviar_AF=0.0127036;Kaviar_AC=1964;Kaviar_AN=154602;ExAC_ALL=0.0131;ExAC_AFR=0.0027;ExAC_AMR=0.0481;ExAC_EAS=0.0001;ExAC_FIN=0.0095;ExAC_NFE=0.0120;ExAC_OTH=0.0099;ExAC_SAS=0.0081;CLNALLELEID=189351;CLNDN=Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.081;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=U;MutationTaster_score=0.903;MutationTaster_pred=N;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=-0.14;FATHMM_pred=T;PROVEAN_score=-1.43;PROVEAN_pred=N;VEST3_score=0.082;CADD_raw=1.589;CADD_phred=13.79;DANN_score=0.986;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.902;MetaSVM_pred=T;MetaLR_score=0.104;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=4.77;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.974;phastCons7way_vertebrate=0.937;phastCons20way_mammalian=0.481;SiPhy_29way_logOdds=16.970;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0144;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0458;gnomAD_exome_ASJ=0.0024;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0111;gnomAD_exome_NFE=0.0127;gnomAD_exome_OTH=0.0135;gnomAD_exome_SAS=0.0072;gnomAD_genome_ALL=0.0125;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0106;gnomAD_genome_NFE=0.0183;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-473.687,0,-511.201:659:294:319:8392:9033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 5154462 . T C 19005.10 . AB=0;ABP=0;AC=229;AF=1;AN=230;AO=748;CIGAR=1X;DP=111464;DPB=770;DPRA=0;EPP=8.63058;EPPR=3.25157;GTI=0;LEN=1;MEANALT=3;MQM=29.2273;MQMR=4.44444;NS=1;NUMALT=1;ODDS=1006.87;PAIRED=0.94385;PAIREDR=0.777778;PAO=0;PQA=0;PQR=0;PRO=0;QA=21808;QR=216;RO=9;RPL=346;RPP=12.1142;RPPR=14.8328;RPR=402;RUN=1;SAF=302;SAP=63.2077;SAR=446;SF=0,1;SRF=6;SRP=5.18177;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.T1149C:p.G383G;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.9847;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9847;esp6500siv2_ea=0.9999;1000g2015aug_all=0.98103;avsnp147=rs2359641;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.9954;ExAC_AFR=0.9530;ExAC_AMR=0.9984;ExAC_EAS=0.9946;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9956;ExAC_SAS=0.9999;CLNALLELEID=254607;CLNDN=Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9962;gnomAD_exome_AFR=0.9518;gnomAD_exome_AMR=0.9979;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9949;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9980;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9853;gnomAD_genome_AFR=0.9496;gnomAD_genome_AMR=0.9916;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.9969;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1506.82,-225.278,0:770:9:748:21808:216 1/1:-2013.44,-310.132,0:1055:10:1031:29343:227 1/1:-1629,-247.393,0:849:12:817:23836:325 1/1:-1313.56,-198.736,0:680:8:655:19145:215 1/1:-1852.13,-278.713,0:982:13:934:26841:317 1/1:-2377.23,-360.665,0:1235:13:1193:34202:326 1/1:-1668.15,-253.501,0:882:12:849:23858:320 1/1:-2108.34,-315.408,0:1085:9:1054:30788:236 1/1:-1614.74,-248.34,0:842:8:820:23324:184 1/1:-2153.19,-322.906,0:1095:7:1073:31353:195 1/1:-1681.02,-253.243,0:878:15:850:24662:321 1/1:-1737.08,-262.443,0:908:21:874:25676:550 1/1:-1599.2,-251.714,0:858:7:833:23784:188 1/1:-1509.91,-234.62,0:797:10:776:22511:261 1/1:-1489.36,-221.007,0:758:8:731:21041:179 1/1:-2749.53,-411.519,0:1400:22:1361:39661:572 1/1:-1346.24,-214.804,0:758:10:721:20559:216 1/1:-4126.48,-625.157,0:2130:22:2062:59716:633 1/1:-1742.84,-264.899,0:906:7:879:25049:170 1/1:-1390.4,-204.911,0:734:13:692:20358:298 1/1:-1234.99,-190.575,0:667:9:641:18372:238 1/1:-2057.86,-310.636,0:1084:17:1041:30179:435 1/1:-1087.41,-171.597,0:583:7:565:16255:212 1/1:-2199.67,-333.532,0:1168:17:1124:32535:363 1/1:-1941.62,-297.293,0:1025:7:995:28708:169 1/1:-1562.94,-249.908,0:864:8:832:23577:228 1/1:-1838.59,-270.193,0:934:15:907:26540:331 1/1:-1845.21,-266.887,0:947:10:911:26299:229 1/1:-1383.85,-214.811,0:730:5:710:20301:142 1/1:-1535.79,-222.26,0:766:7:743:21916:159 1/1:-1464.88,-218.388,0:742:7:721:21059:188 1/1:-2358.75,-351.581,0:1199:11:1164:34067:324 1/1:-2002.04,-305.334,0:1060:17:1022:29930:430 1/1:-1705.33,-254.525,0:871:9:842:23961:198 1/1:-1834.94,-270.04,0:923:9:899:25992:211 1/1:-2237.18,-330.438,0:1156:14:1120:32482:361 1/1:-2204.39,-329.141,0:1129:6:1093:31176:160 1/1:-1627.29,-241.023,0:835:17:799:23752:453 1/1:-1787.9,-284.481,0:971:20:935:27010:540 1/1:-1258.75,-191.301,0:656:9:639:18716:227 1/1:-2144.23,-323.771,0:1115:17:1076:31186:433 1/1:-1852.85,-273.104,0:938:9:914:26613:228 1/1:-1892.12,-275.6,0:947:14:916:26987:315 1/1:-1751.03,-264.245,0:909:12:873:25035:348 1/1:-2272.62,-346.34,0:1211:27:1154:33103:694 1/1:-1944.8,-285.546,0:969:8:945:27667:209 1/1:-1907.46,-294.977,0:1008:12:974:28031:301 1/1:-1245.89,-190.294,0:663:5:633:18113:88 1/1:-1500.47,-230.471,0:783:14:758:21555:376 1/1:-2505.07,-362.683,0:1244:10:1213:35131:261 1/1:-2143.63,-334.056,0:1140:14:1107:30750:358 1/1:-1896.16,-299.178,0:1024:11:986:28010:302 1/1:-2272.9,-339.275,0:1157:11:1127:32664:275 1/1:-2384.12,-363.031,0:1245:15:1199:34619:392 1/1:-1444.14,-225.857,0:777:15:748:21181:389 1/1:-1581.77,-242.038,0:833:9:810:23143:193 1/1:-2076.38,-312.954,0:1087:19:1034:29977:475 1/1:-1021.05,-162.764,0:561:10:538:15354:266 1/1:-1298.56,-187.663,0:653:6:631:18714:115 1/1:-2213.73,-330.715,0:1137:10:1108:31686:274 1/1:-1203.03,-194.422,0:668:15:636:18462:410 1/1:-2331.38,-357.699,0:1225:15:1183:34162:358 1/1:-1730.76,-257.441,0:894:8:857:24915:202 1/1:-1198.55,-182.328,0:638:7:618:17862:169 1/1:-2237.03,-342.284,0:1167:6:1142:33066:145 1/1:-1829.07,-279.982,0:962:10:927:26837:266 1/1:-985.589,-157.453,0:541:4:528:15112:74 1/1:-1692.23,-255.149,0:884:8:851:24727:255 1/1:-1679.69,-257.805,0:879:6:853:24523:178 1/1:-1865.39,-298.447,0:1025:10:996:28334:230 1/1:-2017.02,-307.097,0:1062:14:1025:29761:415 1/1:-2678.59,-397.318,0:1355:17:1315:38516:478 1/1:-2277.35,-333.028,0:1159:17:1120:32548:422 1/1:-1056.46,-185.75,0:649:12:619:16927:260 1/1:-1585.73,-230.202,0:799:16:756:22139:417 1/1:-2273.13,-356.357,0:1226:15:1190:33739:338 1/1:-2068.12,-318.673,0:1095:13:1054:30078:362 1/1:-2015.85,-299.872,0:1044:16:1013:29511:416 1/1:-1258.74,-190.609,0:662:9:635:18334:211 1/1:-1136.5,-169.676,0:581:11:556:16405:300 1/1:-2080.64,-317.334,0:1075:3:1052:31144:78 1/1:-2054.64,-320.124,0:1099:13:1055:30373:334 1/1:-2276.32,-348.336,0:1186:20:1148:33459:580 1/1:-1917.37,-286.225,0:1012:19:975:27804:493 1/1:-1594.58,-255.616,0:878:3:847:23958:96 1/1:-1723.66,-260.4,0:893:12:857:24637:283 1/1:-1296.24,-194.69,0:660:6:643:18618:174 1/1:-1994.06,-298.491,0:1036:16:992:28671:415 1/1:-1105.32,-170.303,0:578:7:561:15959:183 1/1:-1745.43,-260.666,0:893:14:860:25384:393 1/1:-2382.76,-353.061,0:1230:18:1190:34673:453 1/1:-1534.48,-233.966,0:821:14:793:22744:397 1/1:-2339.95,-350.649,0:1194:16:1154:33371:448 1/1:-2088.03,-318.852,0:1091:12:1052:30345:276 1/1:-1991.26,-299.787,0:1034:9:1005:28920:215 . 1/1:-2879.62,-363.827,0:1229:10:1202:37328:292:10,1202 1/1:-2429.52,-311.684,0:1049:6:1031:32251:204:6,1031 1/1:-2723.21,-343.579,0:1162:10:1138:35444:284:10,1138 1/1:-1533.61,-199.076,0:671:10:654:20149:248:10,654 1/1:-2129.42,-276.727,0:932:10:912:28235:292:10,912 1/1:-2739.38,-349.385,0:1177:12:1152:36280:347:12,1152 1/1:-2184,-283.491,0:972:22:940:29141:621:22,940 1/1:-2505.83,-327.55,0:1105:20:1074:33179:588:20,1074 1/1:-2317.61,-307.805,0:1043:16:1015:31284:446:16,1015 1/1:-2664.81,-347.99,0:1186:19:1154:35730:542:19,1154 1/1:-2666.95,-346.707,0:1176:17:1145:35056:462:17,1145 1/1:-1884.97,-245.489,0:845:26:807:25012:751:26,807 0/1:-811.304,0,-744.537:996:499:467:14375:14539:499,467 1/1:-2204.92,-283.215,0:979:18:942:29119:500:18,942 1/1:-2768.25,-363.556,0:1235:23:1197:36954:663:23,1197 1/1:-2407.65,-306.962,0:1044:5:1020:31355:142:5,1020 1/1:-2672.91,-336.227,0:1169:21:1127:35312:618:21,1127 1/1:-2195.06,-276.982,0:928:14:910:28306:384:14,910 1/1:-2013.77,-261.564,0:891:18:856:26483:496:18,856 1/1:-2651.79,-344.127,0:1167:15:1140:34999:379:15,1140 chr12 5155046 . G A 5616.93 . AB=0.404801;ABP=98.1021;AC=1;AF=0.5;AN=2;AO=489;CIGAR=1X;DP=1208;DPB=1208;DPRA=0;EPP=5.7857;EPPR=15.498;GTI=0;LEN=1;MEANALT=3;MQM=35.546;MQMR=34.6821;NS=1;NUMALT=1;ODDS=1293.35;PAIRED=0.936605;PAIREDR=0.92492;PAO=0;PQA=0;PQR=0;PRO=0;QA=11210;QR=18250;RO=626;RPL=180;RPP=76.907;RPPR=87.4272;RPR=309;RUN=1;SAF=326;SAP=120.994;SAR=163;SF=0;SRF=422;SRP=167.862;SRR=204;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G1733A:p.R578K;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0073;esp6500siv2_ea=0.0093;esp6500siv2_all=0.0073;esp6500siv2_ea=0.0093;1000g2015aug_all=0.00319489;avsnp147=rs12720445;Kaviar_AF=0.0059184;Kaviar_AC=915;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0032;ExAC_AMR=0.0044;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0083;ExAC_OTH=0.0022;ExAC_SAS=0.0006;CLNALLELEID=189357;CLNDN=Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN029323,OMIM:601144|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.034;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.028;LRT_pred=U;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=-4.37;FATHMM_pred=D;PROVEAN_score=0.16;PROVEAN_pred=N;VEST3_score=0.2;CADD_raw=0.664;CADD_phred=8.590;DANN_score=0.966;fathmm-MKL_coding_score=0.600;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.173;MetaSVM_pred=T;MetaLR_score=0.720;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=4.76;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.974;phastCons7way_vertebrate=0.797;phastCons20way_mammalian=0.383;SiPhy_29way_logOdds=8.84;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0042;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0097;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0047;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0080;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-593.046,0,-1109.21:1208:626:489:11210:18250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 21918667 . G A 8021.04 . AB=0.447368;ABP=24.9536;AC=1;AF=0.5;AN=2;AO=408;CIGAR=1X;DP=912;DPB=912;DPRA=0;EPP=3.09546;EPPR=4.92938;GTI=0;LEN=1;MEANALT=3;MQM=40.8946;MQMR=40.6874;NS=1;NUMALT=1;ODDS=1846.91;PAIRED=0.970588;PAIREDR=0.981964;PAO=0;PQA=0;PQR=0;PRO=0;QA=12660;QR=15720;RO=499;RPL=189;RPP=7.80031;RPPR=24.947;RPR=219;RUN=1;SAF=289;SAP=156.823;SAR=119;SF=1;SRF=348;SRP=171.893;SRR=151;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ8;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ8:NM_004982:exon3:c.C1265T:p.S422L;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000199681;avsnp147=rs72554071;Kaviar_AF=0.0014618;Kaviar_AC=226;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=9.615e-05;ExAC_AMR=0.0010;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0025;ExAC_OTH=0.0033;ExAC_SAS=0.0010;CLNALLELEID=167406;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.21;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.243;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-1.12;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_pred=N;VEST3_score=0.254;CADD_raw=2.046;CADD_phred=16.50;DANN_score=0.930;fathmm-MKL_coding_score=0.447;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.952;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.45;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.029;phastCons7way_vertebrate=0.703;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=9.499;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM091549#"Ventricular_fibrillation";gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0296;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-828.182,0,-1093.18:912:499:408:12660:15720:499,408 . . chr12 21958259 . TAGAAAA TA 2931.62 . AB=0.433437;ABP=27.8713;AC=1;AF=0.5;AN=2;AO=280;CIGAR=1M5D1M;DP=646;DPB=453;DPRA=0;EPP=216.714;EPPR=142.455;GTI=0;LEN=5;MEANALT=33;MQM=34.3607;MQMR=40.7707;NS=1;NUMALT=1;ODDS=675.031;PAIRED=0.989286;PAIREDR=0.984076;PAO=3.5;PQA=63.5;PQR=407.5;PRO=17.5;QA=6136;QR=9473;RO=314;RPL=141;RPP=3.04132;RPPR=7.68519;RPR=139;RUN=1;SAF=134;SAP=4.12706;SAR=146;SF=0;SRF=170;SRP=7.68519;SRR=144;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-323.897,0,-672.328:646:314:280:6136:9473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 21958998 . CAAAAAAAAAAAAGTGT CAAAAAAAAAAAGTGT,CAAAAAAAAAAAAAGTGT 125.38 . AB=0.132099;ABP=955.284;AC=19,0;AF=0.5;AN=40;AO=107;CIGAR=1M1D15M;DP=16178;DPB=820.176;DPRA=0;EPP=30.793;EPPR=102.383;GTI=0;LEN=1;MEANALT=127;MQM=39.8692;MQMR=39.4293;NS=1;NUMALT=1;ODDS=37.7262;PAIRED=0.990654;PAIREDR=0.914667;PAO=4.66667;PQA=100;PQR=377;PRO=15.1667;QA=2528;QR=11604;RO=375;RPL=53;RPP=3.03059;RPPR=3.71096;RPR=54;RUN=1;SAF=48;SAP=5.46589;SAR=59;SF=1;SRF=164;SRP=15.8017;SRR=211;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs4148680;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;ExAC_ALL=0.3695;ExAC_AFR=0.3736;ExAC_AMR=0.3913;ExAC_EAS=0.3799;ExAC_FIN=0.3016;ExAC_NFE=0.3659;ExAC_OTH=0.3758;ExAC_SAS=0.3837;CLNALLELEID=44299;CLNDN=Cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2916;gnomAD_exome_AFR=0.3431;gnomAD_exome_AMR=0.3069;gnomAD_exome_ASJ=0.2974;gnomAD_exome_EAS=0.2929;gnomAD_exome_FIN=0.2122;gnomAD_exome_NFE=0.2895;gnomAD_exome_OTH=0.2770;gnomAD_exome_SAS=0.3082;gnomAD_genome_ALL=0.0397;gnomAD_genome_AFR=0.0951;gnomAD_genome_AMR=0.0338;gnomAD_genome_ASJ=0.0044;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0934;gnomAD_genome_NFE=0.0073;gnomAD_genome_OTH=0.0158;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730880348;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;ExAC_ALL=0.0431;ExAC_AFR=0.0326;ExAC_AMR=0.0424;ExAC_EAS=0.0376;ExAC_FIN=0.0178;ExAC_NFE=0.0365;ExAC_OTH=0.0447;ExAC_SAS=0.0834;CLNALLELEID=175545;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0934;gnomAD_exome_AFR=0.0546;gnomAD_exome_AMR=0.1204;gnomAD_exome_ASJ=0.1095;gnomAD_exome_EAS=0.1071;gnomAD_exome_FIN=0.1150;gnomAD_exome_NFE=0.0766;gnomAD_exome_OTH=0.1209;gnomAD_exome_SAS=0.1211;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0044;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0435;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0.0070;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-60.4135,0,-851.228,.,.,.:810:375:107,.:2528,.:11604:375,107 0/1:-58.5612,0,-899.17,.,.,.:832:387:111,.:2686,.:12150:387,111 0/1:-74.0568,0,-1094.86,.,.,.:1025:485:130,.:3271,.:15111:485,130 0/1:-23.61,0,-439.286,-48.3792,-419.939,-495.608:395:197:54,28:1275,639:6133:197,54,28 0/1:-42.4542,0,-881.73,-58.4724,-808.482,-949.96:844:389:102,70:2328,1566:12106:389,102,70 0/1:-16.9877,0,-1240.87,-80.202,-1172.5,-1334.26:1063:543:119,76:2774,1709:17061:543,119,76 0/1:-83.0157,0,-813.477,.,.,.:790:362:119,.:2822,.:11351:362,119 0/1:-31.591,0,-1025.16,-87.4144,-976.538,-1125.21:849:432:98,57:2370,1232:13522:432,98,57 0/1:-25.3912,0,-987.158,-90.7844,-950.638,-1090.7:808:419:99,57:2370,1201:13012:419,99,57 0/1:-5.71675,0,-987.052,-69.5364,-942.394,-1064.89:822:428:79,52:2033,1168:13243:428,79,52 0/1:-28.197,0,-1021.84,-67.8231,-951.663,-1095.44:901:442:94,75:2417,1604:13733:442,94,75 0/1:-81.2409,0,-741.444,.,.,.:680:325:104,.:2585,.:10169:325,104 0/1:-20.7083,0,-937.185,-47.3702,-867.125,-994.083:820:402:98,68:2182,1556:12623:402,98,68 0/0:0,-8.26556,-939.027,-29.8054,-864.406,-962.092:842:410:75,71:1815,1589:12693:410,75,71 0/1:-19.6434,0,-906.277,-53.3777,-840.65,-967.448:861:408:87,62:2086,1405:12543:408,87,62 0/1:-21.2007,0,-986.583,-83.2063,-947.843,-1081.91:849:425:100,62:2327,1262:13314:425,100,62 0/1:-63.2638,0,-858.805,.,.,.:809:387:105,.:2548,.:11991:387,105 0/1:-13.3505,0,-879.789,-48.025,-820.567,-932.941:754:382:74,59:1899,1301:11938:382,74,59 0/1:-23.2837,0,-819.651,-65.5668,-775.668,-894.362:712:359:79,49:1953,1101:11293:359,79,49 0/1:-83.4436,0,-801.031,.,.,.:712:356:107,.:2770,.:11150:356,107 chr12 21965027 . A C 10647.90 . AB=0.504931;ABP=3.22445;AC=1;AF=0.5;AN=2;AO=512;CIGAR=1X;DP=1014;DPB=1014;DPRA=0;EPP=28.8135;EPPR=27.0811;GTI=0;LEN=1;MEANALT=3;MQM=39.5234;MQMR=40.3907;NS=1;NUMALT=1;ODDS=2323.18;PAIRED=0.978516;PAIREDR=0.981781;PAO=0;PQA=0;PQR=0;PRO=0;QA=16225;QR=15472;RO=494;RPL=269;RPP=5.87732;RPPR=28.3998;RPR=243;RUN=1;SAF=300;SAP=35.8538;SAR=212;SF=0;SRF=313;SRP=79.6009;SRR=181;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon34:c.T4167G:p.L1389L,ABCC9:NM_020297:exon34:c.T4167G:p.L1389L;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs565927065;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.248e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1511;dpsi_zscore=0.619;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.066e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.97e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1078.99,0,-1029.64:1014:494:512:16225:15472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 21965105 . A G 5245.33 . AB=0.4;ABP=69.8917;AC=1;AF=0.5;AN=2;AO=308;CIGAR=1X;DP=770;DPB=770;DPRA=0;EPP=25.1198;EPPR=46.2246;GTI=0;LEN=1;MEANALT=3;MQM=39.8019;MQMR=40.8198;NS=1;NUMALT=1;ODDS=1207.78;PAIRED=0.970779;PAIREDR=0.981982;PAO=0;PQA=0;PQR=0;PRO=0;QA=9018;QR=13793;RO=444;RPL=181;RPP=23.5688;RPPR=13.359;RPR=127;RUN=1;SAF=213;SAP=101.178;SAR=95;SF=0;SRF=266;SRP=40.8839;SRR=178;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=1.655e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.007e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1112;dpsi_zscore=-0.483;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.223e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.701e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-551.774,0,-971.698:770:444:308:9018:13793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 21967618 . C T 6651.24 . AB=0.497041;ABP=3.0617;AC=1;AF=0.5;AN=2;AO=336;CIGAR=1X;DP=676;DPB=676;DPRA=0;EPP=5.10422;EPPR=27.4213;GTI=0;LEN=1;MEANALT=3;MQM=40.244;MQMR=40.1571;NS=1;NUMALT=1;ODDS=1531.5;PAIRED=0.982143;PAIREDR=0.978852;PAO=0;PQA=0;PQR=0;PRO=0;QA=10129;QR=10295;RO=331;RPL=197;RPP=24.7509;RPPR=6.48072;RPR=139;RUN=1;SAF=140;SAP=23.2774;SAR=196;SF=0;SRF=153;SRP=7.11051;SRR=178;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon33:c.G4062A:p.S1354S,ABCC9:NM_020297:exon33:c.G4062A:p.S1354S;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs145005748;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=9.081e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=54578;CLNDN=Dilated_cardiomyopathy_1O|not_specified;CLNDISDB=MedGen:C1837839,OMIM:608569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1188;dpsi_zscore=-0.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.76e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.967e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-677.145,0,-686.599:676:331:336:10129:10295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 21981892 . C T 3990.43 . AB=0.509804;ABP=3.35092;AC=1;AF=0.5;AN=2;AO=208;CIGAR=1X;DP=408;DPB=408;DPRA=0;EPP=4.51363;EPPR=4.91174;GTI=0;LEN=1;MEANALT=3;MQM=39.3606;MQMR=39.3005;NS=1;NUMALT=1;ODDS=813.015;PAIRED=0.894231;PAIREDR=0.906736;PAO=0;PQA=0;PQR=0;PRO=0;QA=6159;QR=5703;RO=193;RPL=86;RPP=16.5402;RPPR=12.4725;RPR=122;RUN=1;SAF=94;SAP=7.18621;SAR=114;SF=0;SRF=81;SRP=13.8227;SRR=112;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon29:c.G3669A:p.T1223T,ABCC9:NM_020297:exon29:c.G3669A:p.T1223T;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs146942382;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=6.589e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=175401;CLNDN=Dilated_cardiomyopathy_1O|not_specified;CLNDISDB=MedGen:C1837839,OMIM:608569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.2318;dpsi_zscore=-2.385;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.126e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-407.779,0,-362.071:408:193:208:6159:5703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22001193 . T C 7395.18 . AB=0.491803;ABP=3.50867;AC=1;AF=0.5;AN=2;AO=420;CIGAR=1X;DP=854;DPB=854;DPRA=0;EPP=122.462;EPPR=53.6288;GTI=0;LEN=1;MEANALT=3;MQM=36.6381;MQMR=38.7621;NS=1;NUMALT=1;ODDS=1702.8;PAIRED=0.954762;PAIREDR=0.963592;PAO=0;PQA=0;PQR=0;PRO=0;QA=12807;QR=13070;RO=412;RPL=293;RPP=145.48;RPPR=71.5066;RPR=127;RUN=1;SAF=127;SAP=145.48;SAR=293;SF=0;SRF=142;SRP=89.3632;SRR=270;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000399361;avsnp147=rs184123387;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0009;ExAC_OTH=0.0022;ExAC_SAS=6.074e-05;CLNALLELEID=175404;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0059;dpsi_zscore=-0.010;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=6.536e-05;gnomAD_exome_AMR=5.974e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-788.248,0,-841.334:854:412:420:12807:13070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22005167 . C T 7212.69 . AB=0.515244;ABP=4.9964;AC=3;AF=0.5;AN=6;AO=507;CIGAR=1X;DP=2122;DPB=984;DPRA=0;EPP=6.61229;EPPR=9.51521;GTI=0;LEN=1;MEANALT=3;MQM=40.1854;MQMR=40.4179;NS=1;NUMALT=1;ODDS=1976.36;PAIRED=0.978304;PAIREDR=0.986871;PAO=0;PQA=0;PQR=0;PRO=0;QA=15460;QR=13782;RO=457;RPL=158;RPP=159.258;RPPR=183.689;RPR=349;RUN=1;SAF=325;SAP=90.593;SAR=182;SF=0,1;SRF=312;SRP=135.527;SRR=145;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0069;esp6500siv2_ea=0.0098;esp6500siv2_all=0.0069;esp6500siv2_ea=0.0098;1000g2015aug_all=0.00259585;avsnp147=rs61926078;Kaviar_AF=0.0064876;Kaviar_AC=1003;Kaviar_AN=154602;ExAC_ALL=0.0065;ExAC_AFR=0.0016;ExAC_AMR=0.0021;ExAC_EAS=0.0002;ExAC_FIN=0.0130;ExAC_NFE=0.0093;ExAC_OTH=0.0045;ExAC_SAS=0.0020;CLNALLELEID=44296;CLNDN=Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6820;dpsi_zscore=-1.254;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0067;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0095;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0117;gnomAD_exome_NFE=0.0096;gnomAD_exome_OTH=0.0064;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0099;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0135;gnomAD_genome_NFE=0.0139;gnomAD_genome_OTH=0.0235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-1049.38,0,-899.557:984:457:507:15460:13782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-557.962,0,-667.067:610:317:281:8513:9874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-491.065,0,-634.693:528:281:237:7453:9065:281,237 . . . . . . . . . chr12 22005422 . G A 6107.96 . AB=0.459138;ABP=12.7706;AC=2;AF=0.5;AN=4;AO=309;CIGAR=1X;DP=1480;DPB=673;DPRA=0;EPP=3.35464;EPPR=15.2311;GTI=0;LEN=1;MEANALT=3;MQM=39.7961;MQMR=39.0378;NS=1;NUMALT=1;ODDS=1341.72;PAIRED=0.977346;PAIREDR=0.94186;PAO=0;PQA=0;PQR=0;PRO=0;QA=9352;QR=10503;RO=344;RPL=222;RPP=131.085;RPPR=141.278;RPR=87;RUN=1;SAF=133;SAP=16.004;SAR=176;SF=0,1;SRF=130;SRP=47.5507;SRR=214;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon21:c.C2523T:p.A841A,ABCC9:NM_020297:exon21:c.C2523T:p.A841A;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0065;1000g2015aug_all=0.00159744;avsnp147=rs144537241;Kaviar_AF=0.0037451;Kaviar_AC=579;Kaviar_AN=154602;ExAC_ALL=0.0036;ExAC_AFR=0.0014;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0055;ExAC_OTH=0.0022;ExAC_SAS=0.0022;CLNALLELEID=44293;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1615;dpsi_zscore=-0.607;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0054;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-605.181,0,-687.908:673:344:309:9352:10503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-771.918,0,-906.081:807:417:375:11610:13182:417,375 . . . . . . . . . . . . . chr12 22016003 . AGAAAAAAAAAAACACCAGG AGAAAAAAAAAACACCAGG 1863.26 . AB=0.354717;ABP=51.5939;AC=8;AF=0.5;AN=14;AO=94;CIGAR=2M1D17M;DP=2401;DPB=257.7;DPRA=0;EPP=39.9715;EPPR=65.3275;GTI=0;LEN=1;MEANALT=69;MQM=39.9787;MQMR=37.8113;NS=1;NUMALT=1;ODDS=173.668;PAIRED=0.893617;PAIREDR=0.830189;PAO=0.25;PQA=3.5;PQR=3.5;PRO=0.25;QA=2171;QR=1663;RO=53;RPL=57;RPP=12.2506;RPPR=3.05127;RPR=37;RUN=1;SAF=54;SAP=7.53805;SAR=40;SF=1;SRF=26;SRP=3.05127;SRR=27;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.360423;avsnp147=rs4148670;Kaviar_AF=0.0193076;Kaviar_AC=2985;Kaviar_AN=154602;ExAC_ALL=0.4259;ExAC_AFR=0.4504;ExAC_AMR=0.5125;ExAC_EAS=0.4774;ExAC_FIN=0.3876;ExAC_NFE=0.4122;ExAC_OTH=0.4;ExAC_SAS=0.3929;CLNALLELEID=330167;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4353;gnomAD_exome_AFR=0.4572;gnomAD_exome_AMR=0.4931;gnomAD_exome_ASJ=0.4370;gnomAD_exome_EAS=0.4795;gnomAD_exome_FIN=0.3899;gnomAD_exome_NFE=0.4112;gnomAD_exome_OTH=0.4411;gnomAD_exome_SAS=0.4441;gnomAD_genome_ALL=0.3465;gnomAD_genome_AFR=0.3593;gnomAD_genome_AMR=0.4625;gnomAD_genome_ASJ=0.3258;gnomAD_genome_EAS=0.3907;gnomAD_genome_FIN=0.3996;gnomAD_genome_NFE=0.3188;gnomAD_genome_OTH=0.3733;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-146.216,0,-90.8035:265:53:94:2171:1663:53,94 . . . 0/1:-190.391,0,-86.0486:331:55:123:2781:1706:55,123 . . . . 0/1:-137.665,0,-118.504:268:62:87:2077:1948:62,87 . . 0/1:-158.528,0,-141.972:369:76:108:2427:2311:76,108 . 0/1:-172.705,0,-127.313:351:70:113:2592:2200:70,113 0/1:-208.766,0,-91.5135:371:57:130:3011:1781:57,130 . . 1/1:-388.448,-16.515,0:446:22:230:5093:711:22,230 . chr12 22016004 . GAAAAAAAAAAACACCAGG GAAAAAAAAAACACCAGG,TAAAAAAAAAAACACCAGG,GAAAAAAAAAAAACACCAGG,CAAAAAAAAAAACACCAGG 2387.86 . 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0/1:-118.324,0,-70.3288,.,.,.,.,.,.,.,.,.,.,.,.:226:45:89,.,.,.:1842,.,.,.:1420:45,89 chr12 22017410 . C T 8697.27 . AB=0.512156;ABP=4.59403;AC=3;AF=0.5;AN=6;AO=632;CIGAR=1X;DP=2913;DPB=1234;DPRA=0;EPP=36.0084;EPPR=13.5816;GTI=0;LEN=1;MEANALT=3;MQM=39.9541;MQMR=40.5945;NS=1;NUMALT=1;ODDS=2643.89;PAIRED=0.960443;PAIREDR=0.97747;PAO=0;PQA=0;PQR=0;PRO=0;QA=18432;QR=17658;RO=577;RPL=407;RPP=116.82;RPPR=65.6368;RPR=225;RUN=1;SAF=304;SAP=4.98936;SAR=328;SF=0;SRF=267;SRP=9.9688;SRR=310;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon17:c.G2200A:p.V734I,ABCC9:NM_020297:exon17:c.G2200A:p.V734I;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0132;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0132;1000g2015aug_all=0.00399361;avsnp147=rs61688134;Kaviar_AF=0.0077942;Kaviar_AC=1205;Kaviar_AN=154602;ExAC_ALL=0.0070;ExAC_AFR=0.0023;ExAC_AMR=0.0082;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0107;ExAC_OTH=0.0033;ExAC_SAS=0.0001;CLNALLELEID=44292;CLNDN=Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001658,MedGen:C0027051,SNOMED_CT:22298006|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.367;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_pred=D;MutationAssessor_score=0.75;MutationAssessor_pred=N;FATHMM_score=-3.27;FATHMM_pred=D;PROVEAN_score=-0.1;PROVEAN_pred=N;VEST3_score=0.459;CADD_raw=2.389;CADD_phred=18.75;DANN_score=0.986;fathmm-MKL_coding_score=0.797;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.808;MetaSVM_pred=T;MetaLR_score=0.642;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.97;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.919;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.028;GDI_full_10282015=.;dpsi_max_tissue=3.2535;dpsi_zscore=2.286;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM060780#"Myocardial_infarction_association_with";gnomAD_exome_ALL=0.0073;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0096;gnomAD_exome_ASJ=0.0033;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0032;gnomAD_exome_NFE=0.0115;gnomAD_exome_OTH=0.0088;gnomAD_exome_SAS=9.751e-05;gnomAD_genome_ALL=0.0057;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0089;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1222.75,0,-1164.9:1234:577:632:18432:17658 . . . . . . . . . 0/1:-648.251,0,-756.466:747:376:359:10218:11375 . . . . . . . . . . . . . . 0/1:-796.833,0,-975.573:932:482:439:12610:14430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22017422 . AGC GGC 18177.15 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=897;CIGAR=1X;DP=86389;DPB=937;DPRA=0;EPP=5.64657;EPPR=13.8677;GTI=0;LEN=1;MEANALT=3;MQM=40.3278;MQMR=33.8;NS=1;NUMALT=1;ODDS=1220.29;PAIRED=0.984392;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=26751;QR=70;RO=5;RPL=537;RPP=78.8521;RPPR=13.8677;RPR=360;RUN=1;SAF=395;SAP=30.7262;SAR=502;SF=0,1;SRF=5;SRP=13.8677;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.9981;esp6500siv2_ea=1;esp6500siv2_all=0.9981;esp6500siv2_ea=1;1000g2015aug_all=0.998203;avsnp147=rs697250;Kaviar_AF=0.941288;Kaviar_AC=145525;Kaviar_AN=154602;ExAC_ALL=0.9995;ExAC_AFR=0.9945;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=54569;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.9706;dpsi_zscore=-2.148;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9996;gnomAD_exome_AFR=0.9941;gnomAD_exome_AMR=0.9997;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9998;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9986;gnomAD_genome_AFR=0.9952;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:937:5:897:26751:70 1/1:.,.,0:1082:9:1030:30035:126 1/1:.,.,0:875:3:845:25018:55 1/1:.,.,0:714:1:688:20252:14 1/1:.,.,0:934:3:896:26049:64 1/1:.,.,0:1023:1:992:28985:14 1/1:.,.,0:861:5:829:23707:70 1/1:.,.,0:1056:6:998:29000:113 1/1:.,.,0:826:4:787:23080:78 1/1:.,.,0:1065:1:1019:30208:27 1/1:.,.,0:895:2:865:25347:28 1/1:.,.,0:921:3:886:26140:82 1/1:.,.,0:798:2:754:22230:28 1/1:.,.,0:767:4:728:21170:56 1/1:.,.,0:682:2:651:19007:28 1/1:.,.,0:1144:2:1104:32643:28 1/1:.,.,0:757:6:709:20609:84 1/1:.,.,0:1654:6:1583:46231:84 1/1:.,.,0:850:6:813:23826:115 1/1:.,.,0:666:3:639:18689:42 1/1:.,.,0:671:7:635:18322:129 1/1:.,.,0:1165:2:1124:33062:46 1/1:.,.,0:617:3:594:16898:60 1/1:.,.,0:1061:4:1010:29661:56 1/1:.,.,0:985:6:931:27671:102 1/1:.,.,0:841:3:808:22924:42 1/1:.,.,0:927:3:886:25581:55 1/1:.,.,0:1062:1:1020:30392:14 1/1:.,.,0:773:2:737:21482:28 1/1:.,.,0:642:2:613:18456:28 1/1:.,.,0:861:4:818:23724:74 1/1:.,.,0:1352:9:1302:37929:133 1/1:.,.,0:996:4:957:27957:70 1/1:.,.,0:298:0:286:8049:0 1/1:.,.,0:914:3:878:26307:42 1/1:.,.,0:1010:5:974:28270:70 1/1:.,.,0:342:0:334:9672:0 1/1:.,.,0:1109:3:1075:31357:42 1/1:.,.,0:844:4:804:23536:56 1/1:.,.,0:432:0:411:12172:0 1/1:.,.,0:1074:2:1041:30548:28 1/1:.,.,0:739:1:708:20953:36 1/1:.,.,0:815:0:783:23052:0 1/1:.,.,0:958:8:915:26825:134 1/1:.,.,0:1168:8:1122:32722:130 1/1:.,.,0:963:3:923:26666:42 1/1:.,.,0:831:4:794:23248:56 1/1:.,.,0:466:4:445:13101:56 1/1:.,.,0:793:4:760:22264:91 1/1:.,.,0:1089:9:1047:31025:144 1/1:.,.,0:900:2:865:26078:28 1/1:.,.,0:1042:4:998:28958:78 1/1:.,.,0:1128:3:1090:32498:64 1/1:.,.,0:998:10:952:27768:162 1/1:.,.,0:704:2:677:19942:28 1/1:.,.,0:706:0:687:20313:0 1/1:.,.,0:949:5:920:26616:70 1/1:.,.,0:648:4:620:18349:74 1/1:.,.,0:698:5:671:19419:92 1/1:.,.,0:779:0:758:22097:0 1/1:.,.,0:729:3:695:20014:55 1/1:.,.,0:1087:3:1050:30895:42 1/1:.,.,0:748:3:717:21432:85 1/1:.,.,0:804:2:778:22725:57 1/1:.,.,0:1073:3:1037:31015:42 1/1:.,.,0:942:4:909:27043:56 1/1:.,.,0:598:3:569:16404:78 1/1:.,.,0:986:3:952:27786:42 1/1:.,.,0:624:5:595:17852:110 1/1:.,.,0:893:6:844:24272:91 1/1:.,.,0:863:2:828:24170:41 1/1:.,.,0:1050:2:1006:30098:46 1/1:.,.,0:1072:7:1027:29666:98 1/1:.,.,0:740:8:692:19278:112 1/1:.,.,0:873:3:839:25027:42 1/1:.,.,0:1107:4:1051:30482:78 1/1:.,.,0:961:1:923:27545:32 1/1:.,.,0:1009:3:961:28221:55 1/1:.,.,0:640:1:614:18503:14 1/1:.,.,0:614:3:584:16672:64 1/1:.,.,0:887:4:851:24610:74 1/1:.,.,0:1111:2:1058:30649:28 1/1:.,.,0:1042:4:991:28673:56 1/1:.,.,0:917:3:878:26020:60 1/1:.,.,0:767:5:727:20949:92 1/1:.,.,0:719:0:691:20384:0 1/1:.,.,0:866:1:835:24480:14 1/1:.,.,0:1035:2:989:29060:28 1/1:.,.,0:531:1:509:14835:14 1/1:.,.,0:1072:4:1020:29710:63 1/1:.,.,0:1330:7:1275:37416:111 1/1:.,.,0:751:5:719:21272:70 1/1:.,.,0:1084:6:1050:30301:119 1/1:.,.,0:807:3:782:23102:42 1/1:.,.,0:975:3:936:27413:42 . 1/1:.,.,0:123:0:116:3687:0:0,116 1/1:.,.,0:100:1:99:3002:36:1,99 1/1:.,.,0:123:0:119:3638:0:0,119 1/1:.,.,0:57:0:56:1713:0:0,56 1/1:.,.,0:130:0:124:3820:0:0,124 1/1:-315.864,-41.5421,0:127:0:116:3633:0:0,116 1/1:.,.,0:109:0:107:3305:0:0,107 1/1:.,.,0:135:0:131:4094:0:0,131 1/1:.,.,0:100:0:98:3002:0:0,98 1/1:.,.,0:82:0:79:2396:0:0,79 1/1:.,.,0:117:1:113:3510:36:1,113 1/1:.,.,0:101:0:100:3088:0:0,100 1/1:.,.,0:115:0:114:3524:0:0,114 1/1:.,.,0:112:0:108:3439:0:0,108 1/1:.,.,0:124:0:121:3880:0:0,121 1/1:.,.,0:99:0:95:3026:0:0,95 1/1:.,.,0:117:0:115:3625:0:0,115 1/1:.,.,0:123:0:120:3613:0:0,120 1/1:.,.,0:128:0:122:3783:0:0,122 1/1:.,.,0:103:0:101:3154:0:0,101 chr12 22017476 . C T 6933.34 . AB=0.464714;ABP=11.1324;AC=1;AF=0.5;AN=2;AO=349;CIGAR=1X;DP=751;DPB=751;DPRA=0;EPP=10.6322;EPPR=41.702;GTI=0;LEN=1;MEANALT=3;MQM=39.8539;MQMR=40.351;NS=1;NUMALT=1;ODDS=1596.46;PAIRED=0.997135;PAIREDR=0.967172;PAO=0;PQA=0;PQR=0;PRO=0;QA=10976;QR=12406;RO=396;RPL=233;RPP=88.183;RPPR=71.7955;RPR=116;RUN=1;SAF=119;SAP=79.6714;SAR=230;SF=0;SRF=126;SRP=116.716;SRR=270;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs771840460;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3543;dpsi_zscore=-0.928;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-718.819,0,-842.479:751:396:349:10976:12406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22017482 . GTAAC GTAAG,TTAAC 596.47 . AB=0;ABP=0;AC=2,0;AF=0;AN=4;AO=2;CIGAR=1X;DP=86;DPB=34;DPRA=0;EPP=7.35324;EPPR=12.7819;GTI=0;LEN=1;MEANALT=1;MQM=32;MQMR=41.3125;NS=1;NUMALT=1;ODDS=39.9056;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=49;QR=1093;RO=32;RPL=2;RPP=7.35324;RPPR=35.8538;RPR=0;RUN=1;SAF=0;SAP=7.35324;SAR=2;SF=1;SRF=5;SRP=35.8538;SRR=27;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5204;dpsi_zscore=-1.111;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-91.136:34:32:.,2:.,49:1093:32,2 . . . . . . . . . . . 1/1:-127.893,-18.3628,0,.,.,.:52:0:47,.:1478,.:0:0,47 . . . . chr12 22017486 . C G 11360.62 . AB=0;ABP=0;AC=228;AF=1;AN=228;AO=517;CIGAR=1X;DP=51132;DPB=531;DPRA=0;EPP=24.1832;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=40.0735;MQMR=0;NS=1;NUMALT=1;ODDS=719.71;PAIRED=0.994197;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=16415;QR=0;RO=0;RPL=388;RPP=284.76;RPPR=0;RPR=129;RUN=1;SAF=164;SAP=153.044;SAR=353;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.9980;esp6500siv2_ea=1;esp6500siv2_all=0.9980;esp6500siv2_ea=1;1000g2015aug_all=0.998203;avsnp147=rs697251;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6911;dpsi_zscore=-1.262;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.9986;gnomAD_genome_AFR=0.9952;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1414.39,-155.633,0:531:0:517:16415:0 1/1:-1630.85,-183.016,0:625:1:611:18983:14 1/1:-1342.92,-145.302,0:508:3:496:15666:55 1/1:-1154.01,-128.239,0:433:0:426:13439:0 1/1:-1458.46,-159.496,0:555:4:538:16856:81 1/1:-1768.38,-194.056,0:667:2:651:20453:28 1/1:-1289.79,-142.576,0:490:3:483:14936:42 1/1:-1526.25,-170.93,0:581:1:571:17820:14 1/1:-1251.54,-138.775,0:471:0:461:14496:0 1/1:-1680.11,-190.429,0:654:3:642:19536:42 1/1:-1320.94,-149.901,0:511:1:501:15497:14 1/1:-1519.37,-168.924,0:570:1:561:17599:21 1/1:-1263.05,-141.116,0:491:4:478:14714:56 1/1:-1204.3,-140.207,0:490:4:475:14158:56 1/1:-1066.85,-122.82,0:418:0:408:12484:0 1/1:-1787.95,-197.757,0:675:1:660:20590:14 1/1:-1128.52,-126.81,0:442:4:432:13266:69 1/1:-2707.74,-302.264,0:1046:5:1018:31596:77 1/1:-1392.42,-157.138,0:530:0:522:16147:0 1/1:-984.257,-110.535,0:379:1:367:11428:14 1/1:-1025.66,-116.499,0:394:0:387:11880:0 1/1:-1869.37,-204.378,0:694:1:682:21635:14 1/1:-930.138,-103.992,0:374:5:364:10863:88 1/1:-1570.78,-175.18,0:604:1:585:18213:14 1/1:-1513.66,-168.276,0:566:0:559:17615:0 1/1:-1245.41,-139.564,0:479:2:470:14516:28 1/1:-1332.97,-149.612,0:506:0:497:15562:0 1/1:-1689.36,-186.048,0:637:2:626:19670:35 1/1:-1087.1,-120.999,0:418:2:405:12695:41 1/1:-1084.24,-122.82,0:422:0:408:12572:0 1/1:-1258,-141.283,0:488:1:475:14661:27 1/1:-2099.85,-236.008,0:802:0:784:24290:0 1/1:-1582.16,-174.88,0:595:1:584:18445:14 1/1:-484.652,-52.6803,0:178:0:175:5562:0 1/1:-1476.25,-167.072,0:562:0:555:17269:0 1/1:-1501.53,-169.179,0:572:0:562:17390:0 1/1:-593.225,-64.7174,0:223:1:218:6897:14 1/1:-1648.62,-185.077,0:627:1:618:19192:14 1/1:-1260.02,-139.979,0:475:0:465:14575:0 1/1:-658.108,-74.3544,0:247:0:247:7728:0 1/1:-1656.46,-181.89,0:628:4:615:19267:78 1/1:-1118.69,-128.239,0:434:0:426:13021:0 1/1:-1235.94,-137.571,0:470:0:457:14531:0 1/1:-1538.83,-170.799,0:591:4:580:17958:56 1/1:-1807.36,-200.84,0:682:1:667:20934:14 1/1:-1458.61,-159.302,0:543:1:529:16868:14 1/1:-1205.66,-131.739,0:454:2:444:13957:28 1/1:-750.237,-81.1732,0:283:2:276:8695:28 1/1:-1230.24,-135.442,0:468:2:456:14303:28 1/1:-1790.54,-198.915,0:675:2:667:20658:28 1/1:-1460.32,-153.748,0:531:2:521:16909:41 1/1:-1572.2,-174.782,0:617:5:596:18434:70 1/1:-1823.08,-203.187,0:690:1:678:21265:14 1/1:-1502.18,-165.3,0:570:2:552:17412:28 1/1:-1122.06,-122.764,0:426:3:417:13134:42 1/1:-1072.71,-117.814,0:401:2:391:12404:28 1/1:-1452.83,-160.985,0:556:2:541:16973:28 1/1:-991.901,-111.325,0:378:1:373:11574:14 1/1:-1182.36,-131.212,0:448:1:437:13658:14 1/1:-1298.05,-145.096,0:486:0:482:15080:0 1/1:-1174.59,-131.55,0:443:0:437:13586:0 1/1:-1709.18,-188.522,0:646:1:632:19741:32 1/1:-1251.65,-137.182,0:469:1:461:14612:21 1/1:-1282.53,-144.795,0:495:0:481:14798:0 1/1:-1842.95,-206.206,0:691:0:685:21371:0 1/1:-1498.36,-166.414,0:564:1:556:17413:14 1/1:-875.699,-101.693,0:348:1:341:10386:14 1/1:-1590.94,-172.584,0:594:3:585:18557:55 1/1:-965.119,-111.682,0:378:0:371:11220:0 1/1:-1314.04,-148.935,0:511:2:501:15561:28 1/1:-1339.27,-147.731,0:510:2:497:15565:28 1/1:-1565.74,-169.092,0:582:3:571:18058:42 1/1:-1681.88,-184.666,0:637:3:623:19472:42 1/1:-1046.54,-126.071,0:432:2:425:12268:28 1/1:-1423.39,-159.734,0:552:2:537:16587:28 1/1:-1652.28,-185.38,0:631:1:619:19175:14 1/1:-1558.01,-176.103,0:594:0:585:18257:0 1/1:-1586.93,-176.073,0:602:2:591:18656:28 1/1:-975.339,-108.672,0:368:0:361:11447:0 1/1:-1100.8,-124.626,0:417:0:414:12804:0 1/1:-1332.25,-149.612,0:501:0:497:15555:0 1/1:-1761.59,-198.963,0:675:1:664:20621:14 1/1:-1580.9,-176.986,0:598:1:591:18654:14 1/1:-1488.17,-162.62,0:566:4:551:17210:74 1/1:-1148.83,-130.325,0:446:1:436:13478:14 1/1:-1215.64,-136.466,0:468:1:459:14137:27 1/1:-1321.09,-145.693,0:514:2:502:15505:68 1/1:-1562.16,-175.802,0:592:0:584:18291:0 1/1:-899.871,-100.434,0:345:2:340:10404:28 1/1:-1539.03,-173.284,0:594:2:582:18127:28 1/1:-2002.94,-223.033,0:764:2:747:23468:28 1/1:-1130.4,-124.927,0:418:0:415:13125:0 1/1:-1666.66,-185.078,0:631:1:618:19370:14 1/1:-1296.29,-148.709,0:506:0:494:15126:0 1/1:-1440.6,-165.209,0:566:1:552:16912:14 . 1/1:-157.283,-16.8577,0:56:0:56:1791:0:0,56 1/1:-191.645,-20.169,0:67:0:67:2186:0:0,67 1/1:-225.658,-24.6845,0:82:0:82:2592:0:0,82 1/1:-83.844,-9.0309,0:30:0:30:963:0:0,30 1/1:-202.473,-21.9752,0:73:0:73:2356:0:0,73 1/1:-213.324,-22.5773,0:78:0:75:2448:0:0,75 1/1:-169.603,-18.6639,0:62:0:62:1923:0:0,62 1/1:-229.925,-24.3834,0:83:0:81:2623:0:0,81 1/1:-161.35,-16.8577,0:56:0:56:1866:0:0,56 1/1:-130.61,-13.5464,0:47:0:45:1485:0:0,45 1/1:-175.564,-18.6639,0:62:0:62:2044:0:0,62 1/1:-190.607,-19.868,0:66:0:66:2177:0:0,66 1/1:-171.637,-18.3628,0:62:0:61:1991:0:0,61 1/1:-151.32,-16.8577,0:57:0:56:1728:0:0,56 1/1:-178.365,-19.2659,0:66:0:64:2036:0:0,64 . 1/1:-198.991,-21.6742,0:73:0:72:2264:0:0,72 1/1:-174.235,-20.47,0:72:0:68:2042:0:0,68 1/1:-188.673,-20.169,0:67:0:67:2175:0:0,67 1/1:-186.407,-19.2659,0:64:0:64:2148:0:0,64 chr12 22035732 . G A 2594.27 . AB=0.465201;ABP=5.88173;AC=1;AF=0.5;AN=2;AO=127;CIGAR=1X;DP=273;DPB=273;DPRA=0;EPP=19.4417;EPPR=15.9621;GTI=0;LEN=1;MEANALT=3;MQM=38.811;MQMR=39.9362;NS=1;NUMALT=1;ODDS=597.353;PAIRED=0.992126;PAIREDR=0.964539;PAO=0;PQA=0;PQR=0;PRO=0;QA=4146;QR=4498;RO=141;RPL=83;RPP=29.0167;RPPR=46.2703;RPR=44;RUN=1;SAF=56;SAP=6.8574;SAR=71;SF=0;SRF=64;SRP=5.61299;SRR=77;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon14:c.C1987T:p.R663C,ABCC9:NM_020297:exon14:c.C1987T:p.R663C;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs200349671;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=7.419e-05;ExAC_AFR=9.61e-05;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=7.494e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=54562;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.051;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.884;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=-3.06;FATHMM_pred=D;PROVEAN_score=-1.49;PROVEAN_pred=N;VEST3_score=0.643;CADD_raw=4.864;CADD_phred=24.9;DANN_score=0.991;fathmm-MKL_coding_score=0.905;fathmm-MKL_coding_pred=D;MetaSVM_score=0.709;MetaSVM_pred=D;MetaLR_score=0.828;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.39;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.029;phastCons7way_vertebrate=0.113;phastCons20way_mammalian=0.023;SiPhy_29way_logOdds=18.761;GDI_full_10282015=.;dpsi_max_tissue=-1.4497;dpsi_zscore=-1.694;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM141606#"Early_repolarization_syndrome";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-270.302,0,-303.743:273:141:127:4146:4498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22040868 . A G 12222.20 . AB=0.465644;ABP=18.3786;AC=1;AF=0.5;AN=2;AO=698;CIGAR=1X;DP=1499;DPB=1499;DPRA=0;EPP=233.174;EPPR=191.451;GTI=0;LEN=1;MEANALT=3;MQM=39.2751;MQMR=40.4748;NS=1;NUMALT=1;ODDS=2814.27;PAIRED=0.965616;PAIREDR=0.980595;PAO=0;PQA=0;PQR=0;PRO=0;QA=20170;QR=25104;RO=773;RPL=305;RPP=27.1018;RPPR=7.28302;RPR=393;RUN=1;SAF=206;SAP=257.477;SAR=492;SF=0;SRF=222;SRP=307.075;SRR=551;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon13:c.T1803C:p.S601S,ABCC9:NM_020297:exon13:c.T1803C:p.S601S;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs773930785;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.66e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.015e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0582;dpsi_zscore=0.334;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.158e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.804e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-1283.48,0,-1714.77:1499:773:698:20170:25104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22063112 . ATTA ATTG,TTTA 325.18 . AB=0;ABP=0;AC=2,0;AF=1;AN=4;AO=31;CIGAR=3M1X;DP=62;DPB=35;DPRA=0;EPP=18.771;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=38.7097;MQMR=40;NS=1;NUMALT=1;ODDS=41.3664;PAIRED=0.806452;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=956;QR=30;RO=1;RPL=4;RPP=40.0654;RPPR=5.18177;RPR=27;RUN=1;SAF=27;SAP=40.0654;SAR=4;SF=1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=ABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs\x3bABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs\x3bABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon8:c.T1299A:p.N433K,ABCC9:NM_020297:exon8:c.T1299A:p.N433K;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.226;SIFT_pred=T;Polyphen2_HDIV_score=0.589;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.507;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.305;MutationAssessor_pred=M;FATHMM_score=-2.53;FATHMM_pred=D;PROVEAN_score=-2.48;PROVEAN_pred=N;VEST3_score=0.432;CADD_raw=4.560;CADD_phred=24.4;DANN_score=0.994;fathmm-MKL_coding_score=0.863;fathmm-MKL_coding_pred=D;MetaSVM_score=0.142;MetaSVM_pred=D;MetaLR_score=0.680;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=2.24;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.176;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.373;GDI_full_10282015=.;dpsi_max_tissue=-0.0499;dpsi_zscore=-0.265;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-76.2368,-6.93429,0,.,.,.:35:1:31,.:956,.:30:1,31 . . . . . . . . . . . . . 0/0:.,.,.,.,.,-56.0538:27:25:.,2:.,42:725:25,2 . chr12 22063113 . TTA TTG,ATA 347.13 . AB=0;ABP=0;AC=2,0;AF=0;AN=4;AO=2;CIGAR=1X;DP=72;DPB=31;DPRA=0;EPP=3.0103;EPPR=3.08518;GTI=0;LEN=1;MEANALT=1;MQM=15.5;MQMR=37.4483;NS=1;NUMALT=1;ODDS=39.5318;PAIRED=0.5;PAIREDR=0.931034;PAO=0;PQA=0;PQR=0;PRO=0;QA=37;QR=843;RO=29;RPL=1;RPP=3.0103;RPPR=9.07545;RPR=1;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=1;SRF=24;SRP=30.0414;SRR=5;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=ABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs\x3bABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs\x3bABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon8:c.A1298T:p.N433I,ABCC9:NM_020297:exon8:c.A1298T:p.N433I;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.236;SIFT_pred=T;Polyphen2_HDIV_score=0.91;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.77;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.405;MutationAssessor_pred=L;FATHMM_score=-2.46;FATHMM_pred=D;PROVEAN_score=-3.39;PROVEAN_pred=D;VEST3_score=0.762;CADD_raw=6.252;CADD_phred=28.9;DANN_score=0.992;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=0.259;MetaSVM_pred=D;MetaLR_score=0.687;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.8;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.042;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.155;GDI_full_10282015=.;dpsi_max_tissue=0.3838;dpsi_zscore=1.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-66.0907:31:29:.,2:.,37:843:29,2 . . 1/1:-91.5957,-10.5361,0,.,.,.:41:0:35,.:1128,.:0:0,35 . . . . . . . . . . . . . chr12 22063114 . TA TG 585.42 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=26;CIGAR=1M1X;DP=27;DPB=27;DPRA=0;EPP=8.35546;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=37.2308;MQMR=0;NS=1;NUMALT=1;ODDS=38.7029;PAIRED=0.846154;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=737;QR=0;RO=0;RPL=11;RPP=4.34659;RPPR=0;RPR=15;RUN=1;SAF=20;SAP=19.3799;SAR=6;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=ABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs\x3bABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs\x3bABCC9:NM_005691:exon8:c.1296delT:p.P432fs,ABCC9:NM_020297:exon8:c.1296delT:p.P432fs;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-63.2778,-7.82678,0:27:0:26:737:0:0,26 . chr12 22063115 . AGGA GGGA 3588.51 . AB=0;ABP=0;AC=224;AF=1;AN=224;AO=199;CIGAR=1X;DP=19736;DPB=205;DPRA=0;EPP=3.02121;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=36.392;MQMR=42;NS=1;NUMALT=1;ODDS=270.09;PAIRED=0.929648;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=5593;QR=28;RO=2;RPL=60;RPP=71.1116;RPPR=7.35324;RPR=139;RUN=1;SAF=159;SAP=157.534;SAR=40;SF=0,1;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon8:c.T1296C:p.P432P,ABCC9:NM_020297:exon8:c.T1296C:p.P432P;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.9965;esp6500siv2_ea=1;esp6500siv2_all=0.9965;esp6500siv2_ea=1;1000g2015aug_all=0.997204;avsnp147=rs10770865;Kaviar_AF=0.941314;Kaviar_AC=145529;Kaviar_AN=154602;ExAC_ALL=0.9990;ExAC_AFR=0.9899;ExAC_AMR=0.9985;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=54553;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3030;dpsi_zscore=0.896;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9993;gnomAD_exome_AFR=0.9903;gnomAD_exome_AMR=0.9993;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9989;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9973;gnomAD_genome_AFR=0.9905;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:205:2:199:5593:28 1/1:.,.,0:210:1:202:5743:14 1/1:.,.,0:232:1:223:6048:14 1/1:.,.,0:140:2:133:3738:28 1/1:.,.,0:195:1:185:5393:14 1/1:.,.,0:218:0:209:6149:0 1/1:.,.,0:177:1:166:4844:14 1/1:.,.,0:195:0:189:5392:0 1/1:.,.,0:169:1:163:4510:14 1/1:.,.,0:205:1:200:5635:14 1/1:.,.,0:201:1:190:5129:14 1/1:.,.,0:217:2:202:5696:28 1/1:.,.,0:220:0:208:5879:0 1/1:.,.,0:162:1:153:4226:14 1/1:.,.,0:191:1:186:5470:32 1/1:.,.,0:242:1:224:6205:14 1/1:.,.,0:152:1:147:3896:14 1/1:.,.,0:326:3:313:8906:42 1/1:.,.,0:236:1:232:6628:14 1/1:.,.,0:164:0:157:4624:0 1/1:.,.,0:174:1:165:4491:14 1/1:.,.,0:254:2:244:7049:48 1/1:.,.,0:128:0:124:3473:0 1/1:.,.,0:194:0:188:5366:0 1/1:.,.,0:217:3:206:5843:42 1/1:.,.,0:157:0:151:4166:0 1/1:.,.,0:188:2:181:5043:28 1/1:.,.,0:251:2:240:7082:35 1/1:.,.,0:123:2:110:3125:28 1/1:.,.,0:136:2:130:3699:28 1/1:.,.,0:195:0:181:5012:0 1/1:.,.,0:246:2:234:6635:50 1/1:.,.,0:201:0:194:5549:0 1/1:.,.,0:84:0:81:2256:0 1/1:.,.,0:216:1:210:5908:14 1/1:.,.,0:194:0:180:4765:0 1/1:.,.,0:105:1:100:2721:14 1/1:.,.,0:284:0:275:7412:0 1/1:.,.,0:186:0:179:5133:0 1/1:.,.,0:101:1:97:2782:14 1/1:.,.,0:252:0:241:6881:0 1/1:.,.,0:177:2:165:4621:28 1/1:.,.,0:175:1:171:4773:14 1/1:.,.,0:223:1:214:5984:14 1/1:.,.,0:305:4:295:8399:56 1/1:.,.,0:199:2:189:5267:28 1/1:.,.,0:169:0:167:4772:0 1/1:.,.,0:143:0:140:3951:0 1/1:.,.,0:201:0:193:5493:0 1/1:.,.,0:224:0:216:6247:0 1/1:.,.,0:189:3:182:5439:42 1/1:.,.,0:188:1:180:4872:14 1/1:.,.,0:308:3:297:8349:42 1/1:.,.,0:235:3:218:6008:42 1/1:.,.,0:155:1:149:3949:14 1/1:.,.,0:156:0:150:4441:0 1/1:.,.,0:206:1:198:5588:14 1/1:.,.,0:130:0:126:3331:0 1/1:.,.,0:184:1:174:4613:14 1/1:.,.,0:178:1:175:4958:32 1/1:.,.,0:130:0:127:3485:0 1/1:.,.,0:246:2:239:6641:28 1/1:.,.,0:179:1:167:4764:14 1/1:.,.,0:154:2:148:3928:28 1/1:.,.,0:238:1:231:6446:14 1/1:.,.,0:244:3:230:6464:42 1/1:.,.,0:143:0:133:3677:0 1/1:.,.,0:266:2:256:7445:35 1/1:.,.,0:125:1:120:3344:14 1/1:.,.,0:238:2:225:6327:28 1/1:.,.,0:193:1:184:5440:14 1/1:.,.,0:236:0:225:6411:0 1/1:.,.,0:216:3:206:6004:42 1/1:.,.,0:134:2:125:3312:28 1/1:.,.,0:184:0:178:5227:0 1/1:.,.,0:254:0:244:6748:0 1/1:.,.,0:247:1:230:6364:14 1/1:.,.,0:220:0:210:5863:0 1/1:.,.,0:183:2:171:4741:28 1/1:.,.,0:170:3:160:4404:42 1/1:.,.,0:195:0:184:4938:0 1/1:.,.,0:239:0:228:6389:0 1/1:.,.,0:253:0:241:6881:0 1/1:.,.,0:228:2:215:6042:28 1/1:.,.,0:239:0:234:6668:0 1/1:.,.,0:188:1:176:5282:14 1/1:.,.,0:182:0:175:4944:0 1/1:.,.,0:244:1:234:6603:14 1/1:.,.,0:146:1:142:4121:14 1/1:.,.,0:258:0:252:7184:0 1/1:.,.,0:257:3:238:6682:42 1/1:.,.,0:172:1:166:4662:14 1/1:.,.,0:256:2:248:6983:28 1/1:.,.,0:190:1:183:5282:14 1/1:.,.,0:239:1:228:6605:14 . 1/1:.,.,0:33:0:33:1057:0:0,33 1/1:.,.,0:58:0:54:1495:0:0,54 1/1:.,.,0:45:1:40:1135:14:1,40 1/1:.,.,0:31:1:30:892:14:1,30 . 1/1:.,.,0:55:0:53:1549:0:0,53 . 1/1:.,.,0:44:1:43:1271:14:1,43 1/1:.,.,0:61:0:58:1719:0:0,58 1/1:.,.,0:43:0:42:1346:0:0,42 1/1:.,.,0:36:0:35:1048:0:0,35 1/1:.,.,0:40:0:40:1263:0:0,40 1/1:.,.,0:54:0:51:1537:0:0,51 1/1:.,.,0:37:0:33:797:0:0,33 1/1:.,.,0:33:0:33:984:0:0,33 1/1:.,.,0:52:0:50:1534:0:0,50 1/1:-109.736,-13.5464,0:51:0:43:1259:0:0,43 1/1:.,.,0:46:0:46:1209:0:0,46 . 1/1:.,.,0:43:1:42:1253:14:1,42 chr12 22063251 . CAAAAAAAAAAAAAAG CAAAAAAAAAAAAAG 531.27 . AB=0.245192;ABP=120.312;AC=65;AF=0.5;AN=110;AO=51;CIGAR=1M1D14M;DP=11322;DPB=220.625;DPRA=0;EPP=12.5903;EPPR=8.18047;GTI=0;LEN=1;MEANALT=35;MQM=30.6078;MQMR=30.0952;NS=1;NUMALT=1;ODDS=66.8572;PAIRED=0.921569;PAIREDR=1;PAO=20.5;PQA=485;PQR=485;PRO=20.5;QA=1139;QR=1282;RO=42;RPL=18;RPP=12.5903;RPPR=23.691;RPR=33;RUN=1;SAF=41;SAP=43.9277;SAR=10;SF=0;SRF=27;SRP=10.4553;SRR=15;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.375799;avsnp147=rs35857705;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.4407;ExAC_AFR=0.4100;ExAC_AMR=0.4601;ExAC_EAS=0.3995;ExAC_FIN=0.4598;ExAC_NFE=0.4473;ExAC_OTH=0.4098;ExAC_SAS=0.4289;CLNALLELEID=44291;CLNDN=Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4361;gnomAD_exome_AFR=0.4041;gnomAD_exome_AMR=0.4520;gnomAD_exome_ASJ=0.4030;gnomAD_exome_EAS=0.3864;gnomAD_exome_FIN=0.4530;gnomAD_exome_NFE=0.4459;gnomAD_exome_OTH=0.4387;gnomAD_exome_SAS=0.4215;gnomAD_genome_ALL=0.4205;gnomAD_genome_AFR=0.3644;gnomAD_genome_AMR=0.5097;gnomAD_genome_ASJ=0.3495;gnomAD_genome_EAS=0.2597;gnomAD_genome_FIN=0.4432;gnomAD_genome_NFE=0.4674;gnomAD_genome_OTH=0.4213;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-43.7696,0,-38.3892:208:42:51:1139:1282 0/1:-53.8776,0,-32.948:172:35:57:1186:1083 0/1:-45.7793,0,-50.7463:237:50:57:1223:1471 1/1:-119.761,-25.2306,0:200:19:99:1950:520 . 1/1:-107.627,-2.69679,0:176:22:80:1771:637 . . 0/1:-57.3172,0,-32.9102:219:38:57:1263:1113 . . 0/1:-38.3187,0,-42.1022:160:38:46:1011:1183 1/1:-103.528,-8.86057,0:223:28:87:1917:844 0/1:-28.9374,0,-25.4514:240:36:59:1076:1099 . 0/1:-59.0655,0,-100.101:315:87:88:1858:2661 . 0/1:-44.542,0,-29.7378:171:36:53:1133:1074 0/1:-55.1352,0,-31.1476:186:41:60:1265:1231 1/1:-191.477,-16.1914,0:306:28:133:2981:797 . . . . . . 0/1:-48.4283,0,-15.1528:148:23:44:968:684 0/1:-29.7611,0,-61.0092:168:45:44:981:1375 . . 0/1:-48.8315,0,-37.5534:204:40:55:1172:1227 0/1:-14.3071,0,-7.32777:60:12:17:398:360 . . 0/1:-37.0872,0,-25.9857:98:20:30:728:614 . 0/1:-54.8558,0,-34.3295:207:33:59:1199:1024 0/1:-25.3552,0,-2.63373:75:9:23:544:260 0/1:-93.7559,0,-52.0283:305:62:86:2075:1937 0/1:-31.4454,0,-15.5204:154:30:38:902:908 . 1/1:-131.584,-8.74995,0:230:26:97:2173:764 0/1:-82.1669,0,-29.5272:345:56:103:2106:1742 0/1:-68.6865,0,-23.727:200:35:69:1461:1031 . 0/1:-32.1203,0,-28.9611:155:31:42:884:970 0/1:-43.6376,0,-31.7577:188:37:51:1179:1145 0/1:-50.8139,0,-43.4614:216:39:57:1242:1236 0/1:-94.2229,0,-2.4277:222:27:84:1830:822 0/1:-36.1864,0,-49.24:195:48:59:1070:1528 . 0/1:-41.0488,0,-20.7248:176:31:43:1025:990 0/1:-30.4654,0,-55.6288:174:51:43:939:1569 0/1:-49.3393,0,-48.058:181:43:50:1163:1359 0/1:-58.2658,0,-42.6183:233:43:64:1398:1330 0/1:-29.1918,0,-5.72845:145:19:35:754:585 . . 0/1:-60.2227,0,-22.585:164:31:51:1229:939 0/1:-69.8779,0,-51.2003:277:55:73:1552:1719 0/1:-38.4602,0,-47.8456:158:41:44:983:1283 . . 1/1:-147.797,-21.6837,0:230:19:98:2229:580 0/1:-33.2706,0,-51.1371:193:49:46:978:1511 . . 1/1:-119.594,-15.7411,0:244:28:94:2088:832 0/1:-32.6085,0,-24.9119:181:44:52:1146:1310 . . . 1/1:-140.602,-18.9233,0:232:15:95:2102:426 . . 0/1:-55.1428,0,-65.677:249:59:73:1535:1774 . 0/1:-23.4945,0,-62.0518:223:50:46:908:1490 . 0/1:-33.8523,0,-54.1698:238:50:53:1095:1574 0/1:-57.1994,0,-55.432:223:46:60:1308:1429 . 0/1:-45.0779,0,-43.4936:235:54:59:1359:1645 . 1/1:-159.565,-24.7237,0:240:19:100:2327:561 0/1:-36.4326,0,-87.7222:247:64:57:1258:1997 0/1:-32.0758,0,-53.707:171:40:40:837:1269 1/1:-151.962,-18.3861,0:256:24:101:2374:701 . . 0/1:-48.738,0,-67.3402:282:65:65:1500:1985 0/1:-39.2354,0,-37.8585:176:36:48:1027:1104 0/1:-22.9115,0,-42.1276:211:53:50:1074:1619 . . . . . . . . . . . . . . . . . . . . . chr12 22063749 . T C 3208.52 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=128;CIGAR=1X;DP=17054;DPB=133;DPRA=0;EPP=165.939;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=36.5;MQMR=16;NS=1;NUMALT=1;ODDS=174.064;PAIRED=0.96875;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=4105;QR=28;RO=2;RPL=21;RPP=128.481;RPPR=7.35324;RPR=107;RUN=1;SAF=118;SAP=200.886;SAR=10;SF=0,1;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.9898;esp6500siv2_ea=0.9998;esp6500siv2_all=0.9898;esp6500siv2_ea=0.9998;1000g2015aug_all=0.991613;avsnp147=rs4762720;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.9969;ExAC_AFR=0.9684;ExAC_AMR=0.9974;ExAC_EAS=1;ExAC_FIN=0.9998;ExAC_NFE=0.9998;ExAC_OTH=0.9967;ExAC_SAS=1;CLNALLELEID=54551;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1838;dpsi_zscore=-0.654;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9976;gnomAD_exome_AFR=0.9688;gnomAD_exome_AMR=0.9979;gnomAD_exome_ASJ=0.9992;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1.0000;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9978;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9912;gnomAD_genome_AFR=0.9695;gnomAD_genome_AMR=0.9976;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 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1/1:-389.314,-42.1442,0:143:0:140:4488:0:0,140 1/1:-429.001,-46.9607,0:157:0:156:4958:0:0,156 1/1:-227.628,-24.3834,0:81:0:81:2639:0:0,81 1/1:-357.303,-39.1339,0:131:0:130:4175:0:0,130 1/1:-528.144,-55.9916,0:188:0:186:6084:0:0,186 1/1:-386.821,-43.0473,0:146:0:143:4538:0:0,143 1/1:-407.156,-45.1545,0:154:0:150:4816:0:0,150 1/1:-373.499,-41.2411,0:139:0:137:4413:0:0,137 1/1:-363.768,-39.736,0:132:0:132:4239:0:0,132 1/1:-368.594,-39.4349,0:131:0:131:4258:0:0,131 1/1:-343.274,-36.7257,0:123:0:122:3922:0:0,122 1/1:-308.503,-33.1133,0:111:0:110:3566:0:0,110 1/1:-381.059,-41.5421,0:143:0:138:4423:0:0,138 1/1:-321.904,-34.9195,0:119:0:116:3776:0:0,116 1/1:-368.743,-39.736,0:133:0:132:4254:0:0,132 1/1:-441.637,-47.8638,0:165:0:159:5115:0:0,159 1/1:-361.995,-38.8329,0:131:0:129:4266:0:0,129 1/1:-419.188,-44.8535,0:150:0:149:4824:0:0,149 1/1:-331.139,-35.8226,0:124:0:119:3848:0:0,119 chr12 22066006 . GAAAAAAAAAAG TAAAAAAAAAAG,GAAAAAAAAAG 265.17 . AB=0.325328;ABP=124.385;AC=31,4;AF=0.5;AN=70;AO=149;CIGAR=1X;DP=16143;DPB=458;DPRA=0;EPP=50.3601;EPPR=4.54127;GTI=0;LEN=1;MEANALT=3;MQM=31.4295;MQMR=33.0504;NS=1;NUMALT=1;ODDS=9.54288;PAIRED=0.973154;PAIREDR=0.97482;PAO=0;PQA=0;PQR=0;PRO=0;QA=2433;QR=8274;RO=278;RPL=48;RPP=43.9477;RPPR=5.00993;RPR=101;RUN=1;SAF=4;SAP=292.749;SAR=145;SF=0;SRF=247;SRP=367.443;SRR=31;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5034;dpsi_zscore=-1.094;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0198;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0198;1000g2015aug_all=.;avsnp147=rs193922684;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;ExAC_ALL=0.0162;ExAC_AFR=0.0067;ExAC_AMR=0.0087;ExAC_EAS=0.0031;ExAC_FIN=0.0035;ExAC_NFE=0.0229;ExAC_OTH=0.0151;ExAC_SAS=0.0106;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0155;gnomAD_exome_AFR=0.0043;gnomAD_exome_AMR=0.0144;gnomAD_exome_ASJ=0.0397;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0199;gnomAD_exome_OTH=0.0198;gnomAD_exome_SAS=0.0113;gnomAD_genome_ALL=0.0106;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0116;gnomAD_genome_ASJ=0.0172;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0168;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . 0/1:.,.,-496.423,.,.,.:458:278:149,.:2433,.:8274 . 0/1:.,.,-469.416,.,.,.:467:283:150,.:2454,.:8083 . . . 0/1:.,.,-436.168,.,.,.:387:237:128,.:2075,.:6901 . . . . . 0/1:.,.,-487.252,.,.,.:445:263:150,.:2413,.:8040 . . 0/1:.,.,-812.692,.,.,.:734:435:244,.:3983,.:13372 0/1:.,.,-484.488,.,.,.:445:264:144,.:2410,.:7976 . 0/1:.,.,-306.886,.,.,.:318:191:101,.:1660,.:5336 . 0/1:.,.,-339.558,.,.,.:359:202:119,.:1903,.:5845 0/1:.,.,-481.65,.,.,.:473:277:153,.:2565,.:8214 . . 0/1:.,.,-429.413,.,.,.:399:245:125,.:2099,.:7092 0/1:.,.,-657.047,.,.,.:553:342:180,.:2849,.:10441 . . . 0/1:.,.,-678.167,.,.,.:630:382:198,.:3348,.:11219 . . . 0/1:.,.,-631.569,.,.,.:569:342:190,.:3049,.:10224 . 0/1:.,.,-652.813,.,.,.:631:371:198,.:3233,.:10920 0/1:.,.,-425.206,.,.,.:412:247:138,.:2293,.:7155 . 0/1:.,.,-631.034,.,.,.:578:353:184,.:2935,.:10372 . 0/1:.,.,-408.992,.,.,.:382:221:135,.:2167,.:6644 . 0/1:.,.,-699.382,.,.,.:639:405:203,.:3280,.:11923 0/1:.,.,-505.446,.,.,.:490:299:151,.:2513,.:8418 0/1:.,.,-443.243,.,.,.:423:258:134,.:2244,.:7310 0/1:.,.,-304.248,.,.,.:304:176:101,.:1545,.:5066 . . . . 0/1:.,.,-650.941,.,.,.:580:357:176,.:2816,.:10771 . . . . . . . . 0/1:.,.,-531.745,.,.,.:472:288:149,.:2416,.:8702 0/1:.,.,-414.76,.,.,.:373:231:119,.:1951,.:6925 . . 0/1:.,.,-549.577,.,.,.:513:305:162,.:2610,.:8948 . 0/1:.,.,-532.959,.,.,.:486:304:153,.:2407,.:8940 . . 0/1:.,.,-512.484,.,.,.:423:261:127,.:2060,.:8032 . 0/1:.,.,-569.082,.,.,.:560:335:174,.:2788,.:9726 0/2:-60.6653,.,.,0,.,-109.328:306:79:.,74:.,1375:2294 . . . 0/2:-207.1,.,.,0,.,-156.936:467:105:.,155:.,3513:3223 0/1:.,.,-298.138,.,.,.:299:165:104,.:1574,.:5030 . . 0/2:-190.124,.,.,0,.,-176.026:425:110:.,145:.,3180:3389 . . 0/1:.,.,-323.149,.,.,.:346:193:124,.:1997,.:5747 . . . . . . 0/1:.,.,-381.459,.,.,.:378:223:128,.:2083,.:6624 0/2:-207.103,.,.,0,.,-132.148:419:89:.,151:.,3473:2712 . . . . . . . . . . . . . . . . . . . . . . . chr12 22068591 . C T 3925.07 . AB=0.469979;ABP=6.79127;AC=1;AF=0.5;AN=2;AO=227;CIGAR=1X;DP=483;DPB=483;DPRA=0;EPP=12.2032;EPPR=5.96642;GTI=0;LEN=1;MEANALT=3;MQM=39.4802;MQMR=39.5168;NS=1;NUMALT=1;ODDS=903.782;PAIRED=0.977974;PAIREDR=0.978992;PAO=0;PQA=0;PQR=0;PRO=0;QA=6755;QR=7282;RO=238;RPL=69;RPP=78.7823;RPPR=38.0823;RPR=158;RUN=1;SAF=198;SAP=276.224;SAR=29;SF=0;SRF=198;SRP=230.778;SRR=40;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000399361;avsnp147=rs200986421;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=9.615e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=54588;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4085;dpsi_zscore=1.032;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS168792#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-438.982,0,-479.697:483:238:227:6755:7282 . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22068849 . G T 7038.44 . AB=0;ABP=0;AC=141;AF=1;AN=198;AO=509;CIGAR=1X;DP=46194;DPB=528;DPRA=0;EPP=3.5265;EPPR=3.25157;GTI=0;LEN=1;MEANALT=2;MQM=40.3576;MQMR=41.5556;NS=1;NUMALT=1;ODDS=643.132;PAIRED=0.978389;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=14804;QR=214;RO=9;RPL=435;RPP=558.98;RPPR=22.5536;RPR=74;RUN=1;SAF=188;SAP=78.4743;SAR=321;SF=0,1;SRF=5;SRP=3.25157;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.5879;esp6500siv2_ea=0.5925;esp6500siv2_all=0.5879;esp6500siv2_ea=0.5925;1000g2015aug_all=0.644768;avsnp147=rs3759236;Kaviar_AF=0.600891;Kaviar_AC=92899;Kaviar_AN=154602;ExAC_ALL=0.6138;ExAC_AFR=0.5909;ExAC_AMR=0.5394;ExAC_EAS=0.7864;ExAC_FIN=0.5943;ExAC_NFE=0.6025;ExAC_OTH=0.6528;ExAC_SAS=0.6397;CLNALLELEID=54586;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2425;dpsi_zscore=-0.763;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6099;gnomAD_exome_AFR=0.5824;gnomAD_exome_AMR=0.5415;gnomAD_exome_ASJ=0.7059;gnomAD_exome_EAS=0.7896;gnomAD_exome_FIN=0.5925;gnomAD_exome_NFE=0.5915;gnomAD_exome_OTH=0.6214;gnomAD_exome_SAS=0.6432;gnomAD_genome_ALL=0.5992;gnomAD_genome_AFR=0.5788;gnomAD_genome_AMR=0.5538;gnomAD_genome_ASJ=0.7467;gnomAD_genome_EAS=0.8065;gnomAD_genome_FIN=0.5870;gnomAD_genome_NFE=0.5917;gnomAD_genome_OTH=0.5902;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1265.7,-136.986,0:528:9:509:14804:214 1/1:-1384.1,-156.639,0:573:7:558:16209:151 0/1:-545.894,0,-377.579:492:208:275:8047:6108 0/1:-428.887,0,-280.787:371:154:214:6247:4585 0/1:-452.795,0,-391.998:463:215:244:6830:6177 . 1/1:-1067.88,-114.914,0:436:8:425:12670:181 . 1/1:-791.107,-85.1002,0:323:4:318:9209:132 0/1:-663.278,0,-514.579:620:270:341:9817:8098 0/1:-392.802,0,-449.323:435:223:205:6079:6668 1/1:-1090,-114.586,0:444:8:429:12820:191 1/1:-1114.39,-116.89,0:446:7:435:13062:182 0/1:-416.321,0,-361.117:421:194:220:6306:5703 . 0/1:-536.639,0,-624.391:605:315:283:8323:9235 1/1:-990.885,-110.225,0:422:6:410:11813:181 0/1:-961.928,0,-789.248:898:406:483:14370:12308 1/1:-1197.22,-137.109,0:489:4:481:13956:100 0/1:-340.907,0,-366.628:376:190:184:5233:5505 0/1:-269.979,0,-323.815:337:170:158:4413:4884 . 0/1:-369.818,0,-316.934:387:179:204:5616:5024 0/1:-531.561,0,-459.419:542:249:284:8008:7163 1/1:-1292.99,-147.282,0:511:2:505:15049:72 1/1:-1027.87,-120.792,0:421:3:409:12088:60 1/1:-1048.15,-112.09,0:439:9:423:12458:202 0/1:-550.035,0,-525.949:562:278:279:8257:8038 . 0/1:-281.503,0,-312.345:316:161:152:4296:4735 1/1:-1134.05,-126.639,0:465:5:452:13226:132 0/1:-639.036,0,-538.235:626:290:332:9552:8410 0/1:-425.824,0,-482.47:471:238:229:6663:7186 0/1:-143.028,0,-119.957:146:71:74:2198:1970 1/1:-1216.62,-141.957,0:510:8:499:14366:143 1/1:-1374.72,-146.621,0:538:7:524:16093:149 0/1:-209.537,0,-183.099:200:91:107:3097:2795 1/1:-1457.78,-160.719,0:573:5:560:17030:105 0/1:-435.989,0,-384.989:456:214:236:6661:6080 . 0/1:-625.202,0,-575.102:629:297:325:9373:8992 0/1:-324.265,0,-387.506:381:195:184:5239:5840 1/1:-1132.86,-124.45,0:454:4:443:13262:114 . 0/1:-646.926,0,-632.592:670:328:334:9796:9612 0/1:-502.34,0,-529.935:546:271:266:7695:8020 0/1:-492.248,0,-442.509:508:238:264:7477:6951 0/1:-243.959,0,-211.334:248:118:129:3803:3320 0/1:-368.91,0,-304.088:359:166:191:5595:4729 0/1:-459.067,0,-513.607:510:258:246:7082:7648 . 0/1:-556.317,0,-421.969:525:228:291:8325:6694 1/1:-1422.31,-161.361,0:580:5:565:16625:114 0/1:-488.002,0,-432.638:489:230:253:7454:6728 0/1:-368.637,0,-329.22:379:180:193:5585:5173 0/1:-348.251,0,-427.383:402:205:195:5454:6291 0/1:-435.888,0,-417.984:455:220:229:6647:6339 0/1:-356.533,0,-316.718:369:170:196:5538:4952 . 1/1:-1098.65,-118.156,0:431:4:419:12913:103 0/1:-292.345,0,-403.987:376:210:160:4689:6035 0/1:-560.469,0,-498.323:544:255:281:8350:7652 0/1:-402.638,0,-341.318:390:179:205:6008:5335 1/1:-877.127,-96.3854,0:385:8:368:10512:213 1/1:-1553.08,-170.608,0:643:9:629:18177:267 . 0/1:-246.367,0,-302.247:299:152:141:3948:4490 1/1:-1191.91,-131.887,0:507:10:487:14125:200 1/1:-759.115,-72.4401,0:334:10:318:9384:300 . 0/1:-437.616,0,-416.522:450:210:233:6658:6337 1/1:-1322.86,-141.251,0:538:10:521:15487:221 1/1:-1322.52,-146.31,0:537:6:526:15662:155 1/1:-1019.13,-123.225,0:443:5:429:12152:83 . 1/1:-1468.96,-165.12,0:601:6:584:17112:141 1/1:-1118.73,-122.625,0:456:7:443:13288:151 0/1:-537.703,0,-487.507:535:251:281:8166:7451 1/1:-853.277,-89.6872,0:359:8:346:10025:203 0/1:-416.417,0,-369.943:415:189:226:6285:5678 1/1:-1159.82,-133.737,0:486:6:475:13667:124 0/1:-514.086,0,-499.409:532:258:270:7773:7617 0/1:-502.767,0,-508.198:541:268:268:7853:7817 1/1:-1038.53,-97.4318,0:444:14:426:12525:401 0/1:-393.087,0,-303.766:396:181:211:5949:5000 1/1:-882.388,-99.8225,0:385:7:364:10463:140 . 0/1:-520.897,0,-416.807:497:221:263:7787:6596 0/1:-218.796,0,-295.608:271:149:120:3456:4385 . 0/1:-515.992,0,-722.504:668:365:289:8338:10669 1/1:-1105.05,-112.712,0:445:9:428:13068:223 0/1:-574.536,0,-397.061:517:220:289:8511:6460 0/1:-427.057,0,-423.691:451:216:226:6489:6444 0/1:-548.15,0,-485.991:535:253:277:8339:7464 . 1/1:-1234.35,-130.884,0:466:3:456:14325:82:3,456 0/1:-556.967,0,-523.139:513:256:256:8161:7842:256,256 1/1:-1525.44,-162.691,0:560:3:550:17576:42:3,550 1/1:-597.213,-60.4944,0:225:4:220:6991:78:4,220 1/1:-1236.13,-129.97,0:468:6:461:14374:119:6,461 0/1:-697.827,0,-577.825:601:278:320:10120:8716:278,320 1/1:-1390.85,-148.435,0:514:3:508:16099:60:3,508 1/1:-1206.71,-124.922,0:452:5:446:14083:123:5,446 1/1:-1287.48,-129.415,0:482:7:471:14948:164:7,471 0/1:-548.245,0,-438.485:471:212:256:7898:6630:212,256 . 1/1:-1167.21,-122.604,0:426:2:420:13376:50:2,420 . 1/1:-1126.89,-123.626,0:425:2:421:13009:41:2,421 0/1:-533.933,0,-479.056:489:231:254:7833:7208:231,254 0/1:-554.883,0,-494.662:501:239:261:8282:7428:239,261 0/1:-626.661,0,-535.624:559:262:293:9105:8103:262,293 0/1:-504.337,0,-408.328:424:195:227:7200:6169:195,227 1/1:-1220.5,-121.501,0:447:5:440:14242:140:5,440 0/1:-444.939,0,-402.438:414:199:214:6520:6037:199,214 chr12 22070051 . G T 4427.19 . AB=0.512881;ABP=3.62564;AC=1;AF=0.5;AN=2;AO=219;CIGAR=1X;DP=427;DPB=427;DPRA=0;EPP=112.328;EPPR=49.3776;GTI=0;LEN=1;MEANALT=3;MQM=40.1781;MQMR=41.2304;NS=1;NUMALT=1;ODDS=956.123;PAIRED=0.949772;PAIREDR=0.960784;PAO=0;PQA=0;PQR=0;PRO=0;QA=6869;QR=6391;RO=204;RPL=125;RPP=12.539;RPPR=38.8183;RPR=94;RUN=1;SAF=100;SAP=6.58976;SAR=119;SF=1;SRF=80;SRP=23.618;SRR=124;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0040;1000g2015aug_all=0.000798722;avsnp147=rs201279882;Kaviar_AF=0.0030853;Kaviar_AC=477;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0007;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0015;ExAC_NFE=0.0042;ExAC_OTH=0.0033;ExAC_SAS=0.0044;CLNALLELEID=54579;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1426;dpsi_zscore=0.599;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0031;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0093;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0017;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0048;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0032;gnomAD_genome_NFE=0.0042;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-461.854,0,-432.057:427:204:219:6869:6391:204,219 . chr12 22078910 . A G 6408.70 . AB=0.470361;ABP=8.93148;AC=1;AF=0.5;AN=2;AO=365;CIGAR=1X;DP=776;DPB=776;DPRA=0;EPP=38.2833;EPPR=58.0041;GTI=0;LEN=1;MEANALT=3;MQM=39.8493;MQMR=39.801;NS=1;NUMALT=1;ODDS=1475.66;PAIRED=0.961644;PAIREDR=0.94832;PAO=0;PQA=0;PQR=0;PRO=0;QA=10224;QR=11167;RO=387;RPL=224;RPP=43.9946;RPPR=34.5724;RPR=141;RUN=1;SAF=184;SAP=3.06384;SAR=181;SF=0;SRF=187;SRP=3.95857;SRR=200;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon3:c.T372C:p.N124N,ABCC9:NM_020297:exon3:c.T372C:p.N124N;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs377384557;Kaviar_AF=0.0006015;Kaviar_AC=93;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=54577;CLNDN=Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0186;dpsi_zscore=0.127;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-656.357,0,-728.442:776:387:365:10224:11167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22079020 . G A 3383.42 . AB=0.511222;ABP=3.44893;AC=1;AF=0.5;AN=2;AO=205;CIGAR=1X;DP=401;DPB=401;DPRA=0;EPP=4.292;EPPR=7.38964;GTI=0;LEN=1;MEANALT=3;MQM=37.6195;MQMR=38.3128;NS=1;NUMALT=1;ODDS=688.243;PAIRED=0.980488;PAIREDR=0.988827;PAO=0;PQA=0;PQR=0;PRO=0;QA=5481;QR=5048;RO=179;RPL=94;RPP=6.07155;RPPR=3.31358;RPR=111;RUN=1;SAF=99;SAP=3.52933;SAR=106;SF=0;SRF=101;SRP=9.42767;SRR=78;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0035;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0035;1000g2015aug_all=0.00179712;avsnp147=rs149017202;Kaviar_AF=0.0024385;Kaviar_AC=377;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0009;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0031;ExAC_OTH=0.0033;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0064;dpsi_zscore=0.044;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0038;gnomAD_exome_OTH=0.0016;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0040;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-346.362,0,-307.454:401:179:205:5481:5048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 22089561 . G A 2356.93 . AB=0.463768;ABP=6.15736;AC=1;AF=0.5;AN=2;AO=128;CIGAR=1X;DP=276;DPB=276;DPRA=0;EPP=11.2212;EPPR=3.56081;GTI=0;LEN=1;MEANALT=3;MQM=39.1953;MQMR=40.7042;NS=1;NUMALT=1;ODDS=542.703;PAIRED=0.992188;PAIREDR=0.985915;PAO=0;PQA=0;PQR=0;PRO=0;QA=3806;QR=4186;RO=142;RPL=55;RPP=8.50684;RPPR=25.092;RPR=73;RUN=1;SAF=80;SAP=20.3821;SAR=48;SF=0;SRF=88;SRP=20.6879;SRR=54;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon1:c.C48T:p.N16N,ABCC9:NM_020297:exon1:c.C48T:p.N16N;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199631710;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=7.451e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.076e-05;CLNALLELEID=175710;CLNDN=Dilated_cardiomyopathy_1O|not_specified;CLNDISDB=MedGen:C1837839,OMIM:608569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.322e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.947e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.489e-05;gnomAD_exome_NFE=9.87e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.504e-05;gnomAD_genome_ALL=6.462e-05;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-245.729,0,-283.977:276:142:128:3806:4186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 25362777 . A G 3257.54 . AB=0.453263;ABP=13.7681;AC=49;AF=0.5;AN=92;AO=257;CIGAR=1X;DP=16767;DPB=567;DPRA=0;EPP=34.4502;EPPR=84.885;GTI=0;LEN=1;MEANALT=3;MQM=38.9572;MQMR=41.0638;NS=1;NUMALT=1;ODDS=1024.09;PAIRED=0.961089;PAIREDR=0.969799;PAO=0;PQA=0;PQR=0;PRO=0;QA=7380;QR=9202;RO=298;RPL=149;RPP=17.2136;RPPR=13.5325;RPR=108;RUN=1;SAF=105;SAP=21.6748;SAR=152;SF=0,1;SRF=130;SRP=13.5325;SRR=168;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_004985:exon5:c.T519C:p.D173D;cytoBand=12p12.1;genomicSuperDups=Score\x3d0.919627\x3bName\x3dchr6:54635829;esp6500siv2_all=0.2008;esp6500siv2_ea=0.2160;esp6500siv2_all=0.2008;esp6500siv2_ea=0.2160;1000g2015aug_all=0.175519;avsnp147=rs1137282;Kaviar_AF=0.194758;Kaviar_AC=30110;Kaviar_AN=154602;ExAC_ALL=0.1969;ExAC_AFR=0.1846;ExAC_AMR=0.1708;ExAC_EAS=0.1003;ExAC_FIN=0.1591;ExAC_NFE=0.2216;ExAC_OTH=0.1599;ExAC_SAS=0.1911;CLNALLELEID=49887;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1906;gnomAD_exome_AFR=0.1766;gnomAD_exome_AMR=0.1702;gnomAD_exome_ASJ=0.1646;gnomAD_exome_EAS=0.0958;gnomAD_exome_FIN=0.1554;gnomAD_exome_NFE=0.2223;gnomAD_exome_OTH=0.2009;gnomAD_exome_SAS=0.1905;gnomAD_genome_ALL=0.1879;gnomAD_genome_AFR=0.1742;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.0871;gnomAD_genome_FIN=0.1601;gnomAD_genome_NFE=0.2119;gnomAD_genome_OTH=0.2;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-459.246,0,-634.604:567:298:257:7380:9202 . 0/1:-228.977,0,-293.798:283:138:137:3690:4361 0/1:-293.306,0,-550.537:427:247:172:4921:7835 0/1:-384.666,0,-559.394:483:262:211:6027:8129 0/1:-369.89,0,-414.752:402:194:202:5845:6128 . 1/1:-767.025,-69.5499,0:340:12:323:9283:388 . . . 0/1:-320.985,0,-470.987:386:208:174:5019:6739 . 0/1:-315.867,0,-447.294:402:209:183:4990:6700 0/1:-432.764,0,-632.363:531:285:234:6776:9080 . 0/1:-571.727,0,-921.272:784:441:336:9313:13453 0/1:-453.779,0,-490.33:496:238:249:6906:7445 . 0/1:-363.992,0,-279.196:331:139:190:5411:4393 . 0/1:-189.532,0,-325.606:265:146:114:3152:4719 . . 0/1:-315.078,0,-420.805:396:211:181:5045:6376 . 0/1:-382.714,0,-574.776:488:266:212:6241:8388 . . . 0/1:-433.802,0,-698.343:580:316:253:7015:10111 . 0/1:-273.768,0,-294.061:293:140:148:4168:4439 . 0/1:-313.654,0,-660.634:488:300:182:5291:9310 . . . . . 0/1:-288.367,0,-431.454:356:193:160:4619:6218 . . 0/1:-656.333,0,-680.182:687:329:352:9913:10254 . . 0/1:-211.845,0,-192.055:211:94:114:3219:2938 1/1:-876.684,-102.459,0:386:3:365:10434:104 . 0/1:-395.358,0,-491.041:452:231:213:6239:7283 0/1:-376.678,0,-457.081:419:215:197:5774:6776 0/1:-483.002,0,-679.552:581:313:263:7574:9927 . . 0/1:-272.877,0,-371.83:318:168:149:4263:5410 . 0/1:-220.094,0,-260.234:256:129:124:3447:3877 0/1:-327.894,0,-387.574:364:184:172:5002:5686 . . . . . . 0/1:-312.893,0,-512.346:412:231:176:4991:7382 . 0/1:-476.172,0,-552.451:518:259:256:7207:8223 0/1:-202.506,0,-335.527:275:153:117:3316:4753 . . 0/1:-447.076,0,-553.575:491:251:231:6960:8087 . . . . . 1/1:-1181.39,-125.367,0:502:9:484:14071:261 . . . 0/1:-398.57,0,-529.573:475:251:214:6219:7754 . 0/1:-355.926,0,-355.652:363:166:192:5436:5378 . . 0/1:-325.309,0,-445.352:392:205:176:5063:6482 . 0/1:-292.161,0,-287.438:311:139:163:4429:4374 0/1:-354.711,0,-650.096:502:291:205:5861:9236 . 0/1:-308.521,0,-326.765:324:159:160:4750:4897 . . . . . . 0/1:-46.2868,0,-24.0002:31:12:19:628:375:12,19 . 0/1:-47.0791,0,-56.8013:46:24:22:693:809:24,22 0/1:-57.515,0,-35.373:44:19:25:798:548:19,25 . . . . 0/1:-25.3939,0,-27.5688:23:12:11:363:391:12,11 . . . . 0/1:-9.15944,0,-35.9889:22:16:6:203:480:16,6 0/1:-23.0214,0,-58.2009:41:26:14:408:795:26,14 . . 0/1:-39.724,0,-5.71803:23:4:19:526:140:4,19 chr12 25362854 . C T 1233.27 . AB=0.432432;ABP=10.3464;AC=1;AF=0.5;AN=2;AO=80;CIGAR=1X;DP=185;DPB=185;DPRA=0;EPP=11.8048;EPPR=9.10307;GTI=0;LEN=1;MEANALT=3;MQM=41.3375;MQMR=41.2427;NS=1;NUMALT=1;ODDS=283.971;PAIRED=0.9875;PAIREDR=0.990291;PAO=0;PQA=0;PQR=0;PRO=0;QA=2278;QR=3209;RO=103;RPL=63;RPP=60.4457;RPPR=57.8452;RPR=17;RUN=1;SAF=14;SAP=76.4061;SAR=66;SF=0;SRF=21;SRP=81.4574;SRR=82;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0875;esp6500siv2_ea=0.0049;esp6500siv2_all=0.0875;esp6500siv2_ea=0.0049;1000g2015aug_all=0.0836661;avsnp147=rs12313763;Kaviar_AF=0.0269013;Kaviar_AC=4159;Kaviar_AN=154602;ExAC_ALL=0.0281;ExAC_AFR=0.2663;ExAC_AMR=0.0216;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0060;ExAC_OTH=0.0367;ExAC_SAS=0.0014;CLNALLELEID=48934;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0238;gnomAD_exome_AFR=0.2670;gnomAD_exome_AMR=0.0207;gnomAD_exome_ASJ=0.0379;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0044;gnomAD_exome_OTH=0.0253;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0794;gnomAD_genome_AFR=0.2698;gnomAD_genome_AMR=0.0418;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-145.089,0,-224.607:185:103:80:2278:3209 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 25368434 . T A 6944.11 . AB=0.525903;ABP=6.7226;AC=1;AF=0.5;AN=2;AO=335;CIGAR=1X;DP=637;DPB=637;DPRA=0;EPP=63.9995;EPPR=109.34;GTI=0;LEN=1;MEANALT=2;MQM=40.3433;MQMR=40.6656;NS=1;NUMALT=1;ODDS=1423.65;PAIRED=0.943284;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=10473;QR=9632;RO=299;RPL=171;RPP=3.32792;RPPR=4.64435;RPR=164;RUN=1;SAF=138;SAP=25.5742;SAR=197;SF=1;SRF=128;SRP=16.4386;SRR=171;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KRAS:NM_033360:exon5:c.A511T:p.I171F;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.071;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.44;FATHMM_pred=T;PROVEAN_score=-0.85;PROVEAN_pred=N;VEST3_score=0.408;CADD_raw=2.061;CADD_phred=16.60;DANN_score=0.796;fathmm-MKL_coding_score=0.901;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.960;MetaSVM_pred=T;MetaLR_score=0.156;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=3.22;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.889;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.984;GDI_full_10282015=.;dpsi_max_tissue=0.1458;dpsi_zscore=0.606;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-710.898,0,-638.646:637:299:335:10473:9632:299,335 . . . . . . . . . . . chr12 25368462 . C T 17436.06 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=726;CIGAR=1X;DP=76082;DPB=730;DPRA=0;EPP=47.5285;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=39.5083;MQMR=0;NS=1;NUMALT=1;ODDS=1009.45;PAIRED=0.9573;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=22419;QR=0;RO=0;RPL=496;RPP=214.642;RPPR=0;RPR=230;RUN=1;SAF=284;SAP=77.6778;SAR=442;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_033360:exon5:c.G483A:p.R161R;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.9985;esp6500siv2_ea=1;esp6500siv2_all=0.9985;esp6500siv2_ea=1;1000g2015aug_all=0.997604;avsnp147=rs4362222;Kaviar_AF=0.936689;Kaviar_AC=144814;Kaviar_AN=154602;ExAC_ALL=0.9995;ExAC_AFR=0.9949;ExAC_AMR=0.9997;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=55703;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3955;dpsi_zscore=1.730;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9996;gnomAD_exome_AFR=0.9945;gnomAD_exome_AMR=0.9999;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9996;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9985;gnomAD_genome_AFR=0.9948;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1911.11,-218.548,0:730:0:726:22419:0 1/1:-2290.17,-255.876,0:854:0:850:26575:0 1/1:-1760.22,-192.358,0:640:0:639:20516:0 1/1:-1395.64,-155.331,0:517:0:516:16289:0 1/1:-1964.04,-217.946,0:730:0:724:22849:0 1/1:-2000.46,-225.17,0:751:0:748:23504:0 1/1:-1663.26,-189.348,0:631:0:629:19513:0 1/1:-1942.45,-218.849,0:732:0:727:22880:0 1/1:-1491.37,-166.771,0:560:0:554:17388:0 1/1:-2264.01,-252.865,0:845:0:840:26448:0 1/1:-1921.77,-213.731,0:716:0:710:22581:0 1/1:-2041.76,-227.88,0:762:0:757:23775:0 1/1:-1680.32,-189.047,0:633:0:628:19746:0 1/1:-1377.19,-156.184,0:528:1:522:16261:14 1/1:-1559.47,-173.313,0:587:2:582:18396:28 1/1:-2315.32,-256.177,0:856:0:851:26809:0 1/1:-1471.67,-169.48,0:569:0:563:17418:0 1/1:-3250.19,-359.52,0:1215:2:1206:38111:46 1/1:-1941.62,-214.106,0:715:1:711:22621:14 1/1:-1509,-169.781,0:567:0:564:17634:0 1/1:-1448.82,-161.954,0:539:0:538:16938:0 1/1:-2322.68,-253.571,0:854:3:848:27243:49 1/1:-1408.09,-159.827,0:539:1:534:16596:14 1/1:-2236.03,-245.339,0:817:0:815:26085:0 1/1:-2012.12,-222.737,0:749:1:743:23603:14 1/1:-1698.36,-193.539,0:652:1:646:19976:14 1/1:-1813.01,-198.981,0:666:0:661:21036:0 1/1:-2063.5,-234.567,0:785:1:779:24444:14 1/1:-1545.56,-173.37,0:582:1:577:18286:14 1/1:-1235.76,-136.969,0:458:0:455:14450:0 1/1:-1896.4,-210.385,0:707:1:700:22237:14 1/1:-2306.02,-254.972,0:848:0:847:27162:0 1/1:-2130.54,-238.115,0:798:0:791:24943:0 1/1:-1470.08,-163.706,0:554:1:547:17234:14 1/1:-1991.39,-223.364,0:745:0:742:23428:0 1/1:-2181.77,-242.931,0:812:0:807:25428:0 1/1:-1434.16,-159.546,0:532:0:530:16737:0 1/1:-2138.65,-242.329,0:809:0:805:25114:0 1/1:-1705.83,-192.057,0:646:0:638:20160:0 1/1:-1167.28,-129.744,0:434:0:431:13637:0 1/1:-2322.02,-260.391,0:875:0:865:27209:0 1/1:-1482.4,-165.868,0:553:0:551:17341:0 1/1:-1741.28,-187.843,0:627:0:624:20285:0 1/1:-1987.99,-218.849,0:731:0:727:23118:0 1/1:-2698.74,-297.699,0:998:1:992:31592:14 1/1:-2057.5,-230.89,0:770:0:767:23987:0 1/1:-1710.74,-192.057,0:645:0:638:19904:0 1/1:-1069.07,-122.82,0:412:0:408:12562:0 1/1:-1504.17,-167.429,0:564:1:561:17666:21 1/1:-2037.55,-228.783,0:763:0:760:23859:0 1/1:-1886.35,-211.609,0:713:1:706:22025:14 1/1:-2151.18,-238.661,0:804:1:796:25277:14 1/1:-2269.31,-255.273,0:851:0:848:26590:0 1/1:-1973.7,-218.214,0:731:1:726:23084:14 1/1:-1511.65,-172.189,0:576:0:572:17757:0 1/1:-1446.79,-162.556,0:544:0:540:16928:0 1/1:-1871.26,-211.022,0:705:0:701:22148:0 1/1:-1287.96,-144.494,0:482:0:480:15095:0 1/1:-1462.03,-160.75,0:536:0:534:17294:0 1/1:-1625.82,-178.329,0:609:2:604:19141:46 1/1:-1628.33,-186.94,0:624:0:621:19221:0 1/1:-2367.77,-264.605,0:884:0:879:27715:0 1/1:-1414.07,-156.745,0:526:1:522:16550:21 1/1:-1614.86,-180.618,0:603:0:600:18894:0 1/1:-2509.34,-278.44,0:935:1:928:29531:14 1/1:-1976.51,-216.853,0:735:1:730:23160:36 1/1:-1376.48,-150.205,0:519:2:516:16246:63 1/1:-2238,-250.107,0:839:1:834:26320:14 1/1:-1215.88,-134.56,0:447:0:447:14141:0 1/1:-1765.04,-203.195,0:676:0:675:20912:0 1/1:-1689.96,-186.338,0:622:0:619:19783:0 1/1:-2338.16,-258.585,0:864:0:859:27312:0 1/1:-2197.43,-243.521,0:820:1:812:25780:14 1/1:-1430.22,-169.369,0:568:1:564:16894:32 1/1:-1722.79,-190.552,0:637:0:633:20077:0 1/1:-2042.02,-226.008,0:758:1:754:23830:14 1/1:-1759.29,-196.874,0:657:0:654:20616:0 1/1:-2038.58,-226.019,0:763:1:754:23893:14 1/1:-1414.86,-160.75,0:536:0:534:16643:0 1/1:-1428.89,-162.556,0:545:0:540:16972:0 1/1:-1888.79,-209.818,0:702:0:697:22032:0 1/1:-2136.47,-240.523,0:804:0:799:25024:0 1/1:-2215.11,-250.156,0:833:0:831:26009:0 1/1:-1770.08,-199.884,0:674:0:664:20737:0 1/1:-1598.77,-179.96,0:604:1:601:18817:14 1/1:-1596.45,-177.307,0:595:0:589:18662:0 1/1:-1664.76,-185.725,0:629:1:620:19614:14 1/1:-2343.67,-261.896,0:874:0:870:27332:0 1/1:-1055.97,-118.305,0:395:0:393:12366:0 1/1:-2053.26,-231.793,0:775:0:770:23926:0 1/1:-2832.79,-315.366,0:1065:2:1054:33184:28 1/1:-1415.05,-154.789,0:520:1:514:16462:14 1/1:-2420.07,-268.519,0:899:0:892:28281:0 1/1:-1820.21,-203.797,0:679:0:677:21454:0 1/1:-2052.15,-235.104,0:789:0:781:24269:0 . 1/1:-1252.46,-136.668,0:455:0:454:14515:0:0,454 1/1:-1565.7,-169.477,0:570:1:566:18163:14:1,566 1/1:-1687.17,-182.725,0:610:0:607:19582:0:0,607 1/1:-729.153,-80.676,0:271:0:268:8497:0:0,268 1/1:-1314.86,-144.795,0:485:0:481:15360:0:0,481 1/1:-1816.79,-201.088,0:678:0:668:21036:0:0,668 1/1:-1577.39,-170.684,0:574:0:567:18340:0:0,567 1/1:-1565.98,-173.393,0:579:0:576:18150:0:0,576 1/1:-1681.13,-182.725,0:609:0:607:19498:0:0,607 1/1:-1179.12,-129.142,0:434:0:429:13812:0:0,429 1/1:-1598.32,-173.995,0:584:0:578:18599:0:0,578 1/1:-1250.22,-137.571,0:459:0:457:14650:0:0,457 1/1:-1257.88,-140.263,0:472:1:467:14633:14:1,467 1/1:-1405.6,-153.337,0:521:1:518:16401:32:1,518 1/1:-1452.78,-160.449,0:535:0:533:17063:0:0,533 1/1:-1552.58,-172.791,0:577:0:574:18282:0:0,574 1/1:-1962.9,-208.915,0:700:0:694:22653:0:0,694 1/1:-1395.38,-149.913,0:502:0:498:16342:0:0,498 1/1:-1393.53,-151.719,0:508:0:504:16285:0:0,504 1/1:-1128.34,-123.723,0:411:0:411:13211:0:0,411 chr12 25380209 . G A 8585.68 . AB=0.457084;ABP=18.4801;AC=1;AF=0.5;AN=2;AO=442;CIGAR=1X;DP=967;DPB=967;DPRA=0;EPP=41.0553;EPPR=111.288;GTI=0;LEN=1;MEANALT=3;MQM=39.5023;MQMR=39.428;NS=1;NUMALT=1;ODDS=1976.93;PAIRED=0.945701;PAIREDR=0.976331;PAO=0;PQA=0;PQR=0;PRO=0;QA=13693;QR=15437;RO=507;RPL=272;RPP=54.1234;RPPR=69.9319;RPR=170;RUN=1;SAF=211;SAP=4.97543;SAR=231;SF=0;SRF=223;SRP=18.9473;SRR=284;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_004985:exon3:c.C249T:p.A83A,KRAS:NM_033360:exon3:c.C249T:p.A83A;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751117590;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.313e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.028e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=48926;CLNDN=Rasopathy;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1060;dpsi_zscore=0.501;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.033e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.488e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . 0/1:-876.548,0,-1031.28:967:507:442:13693:15437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 32945486 . G T 10329.26 . AB=0.532431;ABP=15.8271;AC=5;AF=0.5;AN=10;AO=747;CIGAR=1X;DP=6265;DPB=1403;DPRA=0;EPP=115.825;EPPR=158.156;GTI=0;LEN=1;MEANALT=3;MQM=38.0348;MQMR=38.6346;NS=1;NUMALT=1;ODDS=2584.04;PAIRED=0.986613;PAIREDR=0.981102;PAO=0;PQA=0;PQR=0;PRO=0;QA=21425;QR=18521;RO=635;RPL=420;RPP=28.1523;RPPR=46.6757;RPR=327;RUN=1;SAF=359;SAP=5.45502;SAR=388;SF=0;SRF=303;SRP=5.88622;SRR=332;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;genomicSuperDups=Score\x3d0.929547\x3bName\x3dchr12:6589219;esp6500siv2_all=0.0381;esp6500siv2_ea=0.0283;esp6500siv2_all=0.0381;esp6500siv2_ea=0.0283;1000g2015aug_all=0.0339457;avsnp147=rs113493546;Kaviar_AF=0.0054851;Kaviar_AC=848;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2422;dpsi_zscore=-0.763;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0395;gnomAD_genome_AFR=0.0612;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.0074;gnomAD_genome_FIN=0.0644;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0347;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1392.52,0,-1152.84:1403:635:747:21425:18521 0/1:-963.617,0,-1009.19:1111:538:557:15289:15837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1023.59,0,-1279.43:1336:698:625:17183:19855 . . . . . . . . . . . . . . . . . . . 0/1:-1029.16,0,-1284.06:1323:693:604:16919:19973 . 0/1:-881.379,0,-1035.63:1092:550:522:14270:16044 . . . . . . . . . . . . . . . . . . . . . . . . chr12 32945495 . C T 21097.36 . AB=0;ABP=0;AC=154;AF=1;AN=202;AO=1320;CIGAR=1X;DP=130733;DPB=1360;DPRA=0;EPP=444.418;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=38.1462;MQMR=41.5;NS=1;NUMALT=1;ODDS=1797.99;PAIRED=0.964394;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=37067;QR=91;RO=4;RPL=796;RPP=124.718;RPPR=3.0103;RPR=524;RUN=1;SAF=583;SAP=42.0244;SAR=737;SF=0,1;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;genomicSuperDups=Score\x3d0.929547\x3bName\x3dchr12:6589219;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.450479;avsnp147=rs7956824;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4697;dpsi_zscore=-1.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6077;gnomAD_genome_AFR=0.5602;gnomAD_genome_AMR=0.4749;gnomAD_genome_ASJ=0.5728;gnomAD_genome_EAS=0.2272;gnomAD_genome_FIN=0.7165;gnomAD_genome_NFE=0.6571;gnomAD_genome_OTH=0.6337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-3112.77,-390.466,0:1360:4:1320:37067:91 0/1:-1360.37,0,-1475.95:1639:800:774:21729:22714 0/1:-1233.64,0,-1214.83:1408:660:685:19196:19199 1/1:-2107.9,-250.794,0:906:7:871:24773:176 1/1:-2957.98,-360.502,0:1298:7:1253:35292:213 1/1:-3570.08,-434.312,0:1556:10:1503:42376:263 0/1:-1126.35,0,-949.021:1233:558:620:17545:15528 0/1:-1255.46,0,-1256.35:1441:697:688:19773:19635 1/1:-2703.23,-330.931,0:1174:7:1132:32018:146 0/1:-1429.44,0,-1288.72:1615:746:811:22560:20487 0/1:-1005.15,0,-1232.34:1298:658:590:16296:18995 0/1:-1273.88,0,-1085.8:1353:618:688:19583:17228 . 0/1:-917.104,0,-871.113:1085:497:541:14719:14082 1/1:-2565.55,-308.134,0:1123:10:1088:30611:260 1/1:-4081.38,-493.472,0:1766:11:1714:48199:291 . 0/1:-2253.17,0,-2218.73:2563:1223:1232:35120:34546 1/1:-3184.53,-375.227,0:1338:8:1300:37359:209 . 0/1:-941.216,0,-813.185:1037:469:519:14443:12958 1/1:-3788.46,-465.617,0:1600:2:1561:44508:57 0/1:-594.534,0,-562.554:726:337:348:9553:8974 1/1:-3830.09,-467.891,0:1642:6:1599:44966:172 1/1:-3218.26,-407.042,0:1405:5:1362:38165:109 0/1:-676.461,0,-845.974:946:473:422:11320:13317 1/1:-2967.95,-356.37,0:1291:8:1243:35323:228 1/1:-3412.71,-387.809,0:1457:18:1399:40257:465 0/1:-768.339,0,-742.335:934:438:450:12238:12157 0/1:-811.762,0,-848.466:956:474:446:12726:13246 0/1:-981.719,0,-1029:1187:580:556:15780:15992 . 1/1:-3286.12,-398.401,0:1400:6:1358:38867:137 1/1:-2482.53,-287.589,0:1097:15:1054:29657:403 1/1:-3196.23,-390.657,0:1375:5:1326:37536:114 1/1:-3672.01,-450.085,0:1590:5:1538:43260:163 . 1/1:-3562.23,-429.249,0:1510:7:1467:42235:178 1/1:-2951.63,-357.375,0:1318:13:1263:35123:327 . 1/1:-4179.42,-519.616,0:1796:4:1746:49239:92 0/1:-930.21,0,-930.472:1069:523:514:14569:14446 0/1:-1278.13,0,-1021.3:1331:595:689:19470:16655 0/1:-1090.97,0,-1181.15:1327:663:611:17493:18398 1/1:-4335.35,-513.866,0:1823:14:1778:50990:349 0/1:-1255.9,0,-1070.71:1361:620:687:19540:17225 1/1:-3027.74,-374.45,0:1352:10:1294:36031:214 0/1:-610.259,0,-724.726:771:399:350:9844:11089 0/1:-1015.4,0,-930.612:1130:527:552:15842:14661 1/1:-4138.6,-478.301,0:1798:25:1733:49136:642 0/1:-1306.09,0,-1143.27:1400:655:689:19906:18016 1/1:-2496.62,-298.91,0:1162:17:1103:30358:443 . 1/1:-3289.64,-388.137,0:1436:16:1386:38998:400 0/1:-771.028,0,-751.139:932:440:437:12258:12262 0/1:-1089.03,0,-905.403:1118:507:575:16411:14410 1/1:-3278,-398.646,0:1404:6:1356:38588:163 1/1:-1535.52,-190.653,0:701:6:662:18556:133 1/1:-1969.03,-240.272,0:853:4:827:23401:121 1/1:-2650.06,-312.842,0:1134:6:1095:31492:212 1/1:-1981.4,-236.172,0:887:11:848:24025:264 0/1:-1527.81,0,-1218.68:1592:699:833:23362:19520 0/1:-845.789,0,-924.276:1018:519:467:13332:14363 1/1:-1918.3,-249.679,0:892:5:859:23339:117 1/1:-3843.19,-438.507,0:1662:24:1601:45888:577 0/1:-1278.56,0,-1205.82:1428:684:690:20025:19116 0/1:-528.936,0,-622.066:709:365:316:8799:9728 1/1:-3259.75,-392.248,0:1405:8:1350:38657:209 1/1:-2098.99,-231.256,0:915:18:883:25075:462 0/1:-1077.77,0,-1139.04:1319:649:626:17685:18022 0/1:-1111,0,-863.23:1166:509:612:17238:14184 1/1:-4046.15,-488.95,0:1708:8:1664:47661:205 . 1/1:-1631.45,-225.689,0:803:3:774:19956:93 . 0/1:-1151.74,0,-1382.21:1455:755:655:18641:21193 . 1/1:-3425.92,-412.363,0:1490:9:1435:40729:254 . 0/1:-691.828,0,-782.102:826:416:382:11050:11910 0/1:-1275.66,0,-1069.06:1419:638:724:19855:17355 . . 1/1:-2723.46,-335.332,0:1213:9:1170:32655:246 1/1:-2435.44,-278.008,0:1105:21:1060:29538:572 0/1:-975.203,0,-1034.76:1189:584:560:15722:16093 1/1:-2323.99,-270.595,0:994:8:958:27563:227 1/1:-2871.33,-308.018,0:1284:32:1223:34816:825 1/1:-1987.88,-242.723,0:856:3:825:23536:73 0/1:-1113.31,0,-1172.05:1337:656:631:17958:18505 0/1:-1581,0,-1585.35:1779:854:860:24674:24430 1/1:-2574.22,-304.396,0:1105:11:1063:30650:227 1/1:-3676.3,-444.91,0:1534:4:1497:43367:78 1/1:-3013.71,-357.21,0:1333:15:1283:35973:390 1/1:-3335.38,-398.533,0:1420:9:1373:39188:205 . 0/1:-1447.54,0,-1287.32:1335:635:673:21340:19421:635,673 0/1:-1529.72,0,-1528.98:1501:752:720:22711:22596:752,720 0/1:-1625.03,0,-1686.46:1615:819:763:24256:24793:819,763 1/1:-2002.73,-207.638,0:788:9:763:23581:284:9,763 0/1:-1358.42,0,-1088.38:1198:549:633:19843:16623:549,633 0/1:-1564.65,0,-1790.67:1674:858:782:24015:26298:858,782 0/1:-1410.54,0,-1126.1:1239:561:657:20554:17187:561,657 0/1:-1400.56,0,-1419.71:1398:690:679:21004:21171:690,679 1/1:-3514.93,-353.772,0:1349:18:1314:41337:535:18,1314 1/1:-3158.41,-338.354,0:1241:12:1211:37199:349:12,1211 1/1:-3988.14,-421.915,0:1509:13:1473:46310:288:13,1473 1/1:-2953.28,-328.829,0:1113:1:1097:34369:21:1,1097 0/1:-1298.86,0,-1125.68:1227:568:628:19297:17235:568,628 0/1:-1424.62,0,-1257.93:1330:625:689:21239:19012:625,689 0/1:-1339.99,0,-1454.12:1401:719:655:20293:21800:719,655 1/1:-3310.46,-355.69,0:1272:9:1236:38328:215:9,1236 1/1:-4057.39,-425.277,0:1560:15:1518:47497:422:15,1518 0/1:-1168.11,0,-1432.63:1283:693:571:17935:20965:693,571 0/1:-1479.34,0,-1228.2:1332:624:689:21577:18719:624,689 . chr12 32949029 . ACT AGCT 4683.27 . AB=0.385612;ABP=81.9988;AC=25;AF=0.5;AN=44;AO=268;CIGAR=1M1I1M;DP=14408;DPB=839.5;DPRA=0;EPP=18.6968;EPPR=15.845;GTI=0;LEN=1;MEANALT=13;MQM=33.7052;MQMR=36.176;NS=1;NUMALT=1;ODDS=682.232;PAIRED=0.932836;PAIREDR=0.96648;PAO=3.5;PQA=31;PQR=31;PRO=3.5;QA=6466;QR=10644;RO=358;RPL=111;RPP=20.1552;RPPR=52.1414;RPR=157;RUN=1;SAF=153;SAP=14.7103;SAR=115;SF=0,1;SRF=222;SRP=47.8712;SRR=136;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1393;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1393;1000g2015aug_all=0.318291;avsnp147=rs149968852;Kaviar_AF=0.0059637;Kaviar_AC=922;Kaviar_AN=154602;ExAC_ALL=0.2108;ExAC_AFR=0.2881;ExAC_AMR=0.1566;ExAC_EAS=0.5462;ExAC_FIN=0.1839;ExAC_NFE=0.1396;ExAC_OTH=0.2081;ExAC_SAS=0.3236;CLNALLELEID=54237;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2097;gnomAD_exome_AFR=0.2891;gnomAD_exome_AMR=0.1636;gnomAD_exome_ASJ=0.1568;gnomAD_exome_EAS=0.5532;gnomAD_exome_FIN=0.1761;gnomAD_exome_NFE=0.1401;gnomAD_exome_OTH=0.1745;gnomAD_exome_SAS=0.3283;gnomAD_genome_ALL=0.2044;gnomAD_genome_AFR=0.2708;gnomAD_genome_AMR=0.1706;gnomAD_genome_ASJ=0.1733;gnomAD_genome_EAS=0.5513;gnomAD_genome_FIN=0.1713;gnomAD_genome_NFE=0.1401;gnomAD_genome_OTH=0.1892;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:.,.,-664.377:695:358:268:6466:10644 . . . . . 0/1:.,.,-418.378:502:246:193:4617:7195 . . 0/1:.,.,-341.415:463:203:209:4898:5825 . . 0/1:.,.,-390.915:449:222:186:4665:6536 . . . . . . . . . . . . 0/1:.,.,-805.56:835:414:338:8233:12310 0/1:.,.,-556.71:703:327:301:7561:9416 . . . . . 1/1:.,.,0:490:3:426:10325:64 . . 0/1:.,.,-647.326:681:343:283:7257:10248 . . . . . . . . . . . . 0/1:.,.,-509.204:596:271:264:6738:8139 . . . . . . . . . . . . . 1/1:.,.,0:716:15:601:15312:442 0/1:.,.,-504.067:612:288:272:6674:8300 . . . 1/1:.,.,0:593:3:515:12942:66 0/1:.,.,-688.209:800:400:326:8105:11546 0/1:.,.,-707.427:724:361:295:7502:10717 . . . 0/1:.,.,-599.799:741:332:331:8055:9943 . . . . . . . . 0/1:.,.,-546.462:593:297:249:6442:8702 . 0/1:.,.,-684.102:673:354:262:6477:10571 . . . . . . . . . . 0/1:-488.281,0,-750.12:698:357:295:7802:11120:357,295 . . . . . 0/1:-566.794,0,-697.906:725:337:336:8811:10525:337,336 0/1:-502.415,0,-765.226:696:354:308:8039:11170:354,308 . . . . 0/1:-406.06,0,-844.049:706:389:274:6930:12244:389,274 0/1:-544.134,0,-694.494:717:335:334:8506:10360:335,334 chr12 32949101 . G T 11621.34 . AB=0.501074;ABP=3.02429;AC=2;AF=0.5;AN=4;AO=700;CIGAR=1X;DP=2739;DPB=1397;DPRA=0;EPP=72.8076;EPPR=42.2977;GTI=0;LEN=1;MEANALT=3;MQM=34.5914;MQMR=34.8458;NS=1;NUMALT=1;ODDS=2681.18;PAIRED=0.952857;PAIREDR=0.958884;PAO=0;PQA=0;PQR=0;PRO=0;QA=20319;QR=20827;RO=681;RPL=303;RPP=30.4205;RPPR=42.2977;RPR=397;RUN=1;SAF=308;SAP=24.8987;SAR=392;SF=0,1;SRF=328;SRP=5.00321;SRR=353;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon11:c.C2299A:p.R767S,PKP2:NM_004572:exon12:c.C2431A:p.R811S;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000599042;avsnp147=rs139734328;Kaviar_AF=0.000815;Kaviar_AC=126;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=9.61e-05;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0066;ExAC_SAS=0.0006;CLNALLELEID=54235;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.434;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.219;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.585;MutationAssessor_pred=M;FATHMM_score=0.78;FATHMM_pred=T;PROVEAN_score=-3.22;PROVEAN_pred=D;VEST3_score=0.85;CADD_raw=7.211;CADD_phred=34;DANN_score=0.995;fathmm-MKL_coding_score=0.816;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.636;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.06;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.044;phastCons7way_vertebrate=0.920;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=17.583;GDI_full_10282015=.;dpsi_max_tissue=0.1498;dpsi_zscore=0.616;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM102828#"Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy";gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.484e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.01;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1184.67,0,-1222.16:1397:681:700:20319:20827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1162.82,0,-1335.69:1342:688:650:19881:21364:688,650 . . . . . . . . . . . . chr12 32949251 . AACA AA,AAA 1334.84 . AB=0.230661;ABP=451.015;AC=2,2;AF=0.5;AN=6;AO=164;CIGAR=1M2D1M;DP=1690;DPB=621.5;DPRA=0;EPP=57.2441;EPPR=200.614;GTI=0;LEN=2;MEANALT=22;MQM=24.311;MQMR=35.9478;NS=1;NUMALT=1;ODDS=116.535;PAIRED=0.945122;PAIREDR=0.967033;PAO=1;PQA=14;PQR=217;PRO=9;QA=3854;QR=10621;RO=364;RPL=52;RPP=50.6768;RPPR=17.9243;RPR=112;RUN=1;SAF=78;SAP=3.8577;SAR=86;SF=0,1;SRF=188;SRP=3.86934;SRR=176;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.1657;esp6500siv2_ea=0.1207;esp6500siv2_all=0.1657;esp6500siv2_ea=0.1207;1000g2015aug_all=0.304912;avsnp147=rs57690055;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=0.1614;ExAC_AFR=0.2267;ExAC_AMR=0.1272;ExAC_EAS=0.3931;ExAC_FIN=0.1512;ExAC_NFE=0.1115;ExAC_OTH=0.1579;ExAC_SAS=0.2421;CLNALLELEID=186422;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1336;gnomAD_exome_AFR=0.2022;gnomAD_exome_AMR=0.1074;gnomAD_exome_ASJ=0.0982;gnomAD_exome_EAS=0.3656;gnomAD_exome_FIN=0.1244;gnomAD_exome_NFE=0.0915;gnomAD_exome_OTH=0.1087;gnomAD_exome_SAS=0.1936;gnomAD_genome_ALL=0.1788;gnomAD_genome_AFR=0.2456;gnomAD_genome_AMR=0.1359;gnomAD_genome_ASJ=0.1510;gnomAD_genome_EAS=0.5310;gnomAD_genome_FIN=0.1168;gnomAD_genome_NFE=0.1204;gnomAD_genome_OTH=0.1546;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-84.9901,0,-719.164,.,.,.:711:364:164,.:3854,.:10621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/2:-280.382,-125.414,-84.5535,-154.587,0,-123.359:381:7:144,112:3331,2679:178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-84.4273,.,.,0,.,-700.391:598:326:.,119:.,3144:9892:326,119 . . . . . . . chr12 32949252 . ACA AA,AAA 1099.36 . AB=0.229656;ABP=354.062;AC=11,2;AF=0.5;AN=22;AO=127;CIGAR=1M1D1M;DP=6917;DPB=511.667;DPRA=0;EPP=157.322;EPPR=153.432;GTI=0;LEN=1;MEANALT=11;MQM=20.1969;MQMR=36.4564;NS=1;NUMALT=1;ODDS=25.4975;PAIRED=0.944882;PAIREDR=0.979094;PAO=2.5;PQA=47;PQR=47;PRO=2.5;QA=3092;QR=8226;RO=287;RPL=50;RPP=15.4749;RPPR=39.0325;RPR=77;RUN=1;SAF=64;SAP=3.0274;SAR=63;SF=0,1;SRF=126;SRP=12.2788;SRR=161;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.1657;esp6500siv2_ea=0.1207;esp6500siv2_all=0.1657;esp6500siv2_ea=0.1207;1000g2015aug_all=0.304912;avsnp147=rs57690055;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=0.1614;ExAC_AFR=0.2267;ExAC_AMR=0.1272;ExAC_EAS=0.3931;ExAC_FIN=0.1512;ExAC_NFE=0.1115;ExAC_OTH=0.1579;ExAC_SAS=0.2421;CLNALLELEID=186422;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1336;gnomAD_exome_AFR=0.2022;gnomAD_exome_AMR=0.1074;gnomAD_exome_ASJ=0.0982;gnomAD_exome_EAS=0.3656;gnomAD_exome_FIN=0.1244;gnomAD_exome_NFE=0.0915;gnomAD_exome_OTH=0.1087;gnomAD_exome_SAS=0.1936;gnomAD_genome_ALL=0.1788;gnomAD_genome_AFR=0.2456;gnomAD_genome_AMR=0.1359;gnomAD_genome_ASJ=0.1510;gnomAD_genome_EAS=0.5310;gnomAD_genome_FIN=0.1168;gnomAD_genome_NFE=0.1204;gnomAD_genome_OTH=0.1546;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201732222;Kaviar_AF=0.0267332;Kaviar_AC=4133;Kaviar_AN=154602;ExAC_ALL=0.0362;ExAC_AFR=0.0644;ExAC_AMR=0.0303;ExAC_EAS=0.2063;ExAC_FIN=0.0209;ExAC_NFE=0.0198;ExAC_OTH=0.0230;ExAC_SAS=0.0580;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1988;dpsi_zscore=-0.685;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0214;gnomAD_exome_AFR=0.0381;gnomAD_exome_AMR=0.0142;gnomAD_exome_ASJ=0.0102;gnomAD_exome_EAS=0.1217;gnomAD_exome_FIN=0.0095;gnomAD_exome_NFE=0.0092;gnomAD_exome_OTH=0.0143;gnomAD_exome_SAS=0.0361;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0085;gnomAD_genome_AMR=0.0075;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0043;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-50.0967,0,-554.518,.,.,.:553:287:127,.:3092,.:8226 . . . . . 0/1:-50.5292,0,-479.274,.,.,.:483:253:120,.:2696,.:7256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/2:-545.593,-193.507,-133.902,-322.588,0,-298.804:560:20:316,197:7674,3557:561 0/1:-61.1369,0,-774.021,.,.,.:716:396:164,.:3836,.:11569 . . . 1/2:-409.35,-157.601,-95.1409,-242.871,0,-201.181:451:9:246,177:5678,2821:233 0/1:-74.6722,0,-762.808,.,.,.:788:406:177,.:4329,.:11478 . . . . . . . . . . . . . 0/1:-67.9882,0,-769.032,.,.,.:716:397:158,.:3923,.:11385 . . . . . . . . . . . . 0/1:-81.9581,0,-801.482,.,.,.:642:366:146,.:3558,.:11254:366,146 . . . . . . 0/1:-80.0676,0,-859.737,.,.,.:652:383:139,.:3552,.:11829:383,139 . . . . 0/1:-52.9907,0,-803.567,.,.,.:621:362:130,.:3230,.:11051:362,130 0/1:-38.449,0,-1050.39,-49.9247,-962.846,-1111.44:735:474:145,108:3602,2017:14445:474,145,108 chr12 32955330 . G A 7202.52 . AB=0.490072;ABP=3.95885;AC=4;AF=0.5;AN=8;AO=543;CIGAR=1X;DP=3515;DPB=1108;DPRA=0;EPP=33.2789;EPPR=25.5048;GTI=0;LEN=1;MEANALT=3;MQM=39.3204;MQMR=38.4991;NS=1;NUMALT=1;ODDS=2251.41;PAIRED=0.963168;PAIREDR=0.94291;PAO=0;PQA=0;PQR=0;PRO=0;QA=16154;QR=16643;RO=543;RPL=129;RPP=327.831;RPPR=425.408;RPR=414;RUN=1;SAF=402;SAP=275.428;SAR=141;SF=0,1;SRF=374;SRP=171.069;SRR=169;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0723;esp6500siv2_ea=0.0117;esp6500siv2_all=0.0723;esp6500siv2_ea=0.0117;1000g2015aug_all=0.0716853;avsnp147=rs74072938;Kaviar_AF=0.0303748;Kaviar_AC=4696;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.1901;ExAC_AMR=0.0181;ExAC_EAS=0.0021;ExAC_FIN=0.0092;ExAC_NFE=0.0133;ExAC_OTH=0.0264;ExAC_SAS=0.0457;CLNALLELEID=54231;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=27.5310;dpsi_zscore=3.745;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0275;gnomAD_exome_AFR=0.1895;gnomAD_exome_AMR=0.0156;gnomAD_exome_ASJ=0.0114;gnomAD_exome_EAS=0.0020;gnomAD_exome_FIN=0.0091;gnomAD_exome_NFE=0.0125;gnomAD_exome_OTH=0.0244;gnomAD_exome_SAS=0.0475;gnomAD_genome_ALL=0.0590;gnomAD_genome_AFR=0.1851;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0025;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0099;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-1051.26,0,-1066.77:1108:543:543:16154:16643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-482.631,0,-631.745:593:319:260:7730:9524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-518.642,0,-758.917:630:347:274:8310:11009:347,274 . . . . 0/1:-1170.78,0,-1266.99:1184:588:577:17641:18778:588,577 . . . . . . . . . . . chr12 32974345 . T C 5196.33 . AB=0.478562;ABP=5.89659;AC=1;AF=0.5;AN=2;AO=346;CIGAR=1X;DP=723;DPB=723;DPRA=0;EPP=4.24038;EPPR=3.22989;GTI=0;LEN=1;MEANALT=3;MQM=32.526;MQMR=36.0028;NS=1;NUMALT=1;ODDS=1196.5;PAIRED=0.861272;PAIREDR=0.924157;PAO=0;PQA=0;PQR=0;PRO=0;QA=9860;QR=10810;RO=356;RPL=123;RPP=65.7696;RPPR=40.1205;RPR=223;RUN=1;SAF=181;SAP=4.61694;SAR=165;SF=0;SRF=178;SRP=3.0103;SRR=178;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon9:c.A1958G:p.Y653C,PKP2:NM_004572:exon10:c.A2090G:p.Y697C;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778600610;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.649e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.127;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.9;Polyphen2_HVAR_pred=P;LRT_score=0.027;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=2.125;MutationAssessor_pred=M;FATHMM_score=-0.89;FATHMM_pred=T;PROVEAN_score=-2.33;PROVEAN_pred=N;VEST3_score=0.543;CADD_raw=4.047;CADD_phred=23.7;DANN_score=0.997;fathmm-MKL_coding_score=0.804;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.224;MetaSVM_pred=T;MetaLR_score=0.476;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=3.7;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=9.196;GDI_full_10282015=.;dpsi_max_tissue=0.0935;dpsi_zscore=0.463;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.123e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-533.92,0,-654.031:723:356:346:9860:10810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 32974352 . G A 9144.99 . AB=0.456861;ABP=22.682;AC=1;AF=0.5;AN=2;AO=556;CIGAR=1X;DP=1217;DPB=1217;DPRA=0;EPP=8.64988;EPPR=6.79387;GTI=0;LEN=1;MEANALT=3;MQM=34.2356;MQMR=36.5424;NS=1;NUMALT=1;ODDS=2105.71;PAIRED=0.964029;PAIREDR=0.944;PAO=0;PQA=0;PQR=0;PRO=0;QA=16539;QR=18744;RO=625;RPL=238;RPP=28.0057;RPPR=25.8055;RPR=318;RUN=1;SAF=277;SAP=3.02592;SAR=279;SF=0;SRF=335;SRP=10.0459;SRR=290;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon9:c.C1951T:p.R651C,PKP2:NM_004572:exon10:c.C2083T:p.R695C;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs199583774;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=54223;CLNDN=Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=2.075;MutationAssessor_pred=M;FATHMM_score=-0.94;FATHMM_pred=T;PROVEAN_score=-5.0;PROVEAN_pred=D;VEST3_score=0.778;CADD_raw=7.044;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.386;fathmm-MKL_coding_pred=N;MetaSVM_score=0.032;MetaSVM_pred=D;MetaLR_score=0.506;MetaLR_pred=D;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.81;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.108;phastCons7way_vertebrate=0.945;phastCons20way_mammalian=0.962;SiPhy_29way_logOdds=11.102;GDI_full_10282015=.;dpsi_max_tissue=-0.1478;dpsi_zscore=-0.576;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM172725#"Sudden_infant_death_syndrome";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.664e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-926.49,0,-1173.46:1217:625:556:16539:18744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 32994073 . G A 10479.20 . AB=0.502914;ABP=3.09889;AC=1;AF=0.5;AN=2;AO=604;CIGAR=1X;DP=1201;DPB=1201;DPRA=0;EPP=149.707;EPPR=115.792;GTI=0;LEN=1;MEANALT=3;MQM=35.6093;MQMR=37.1226;NS=1;NUMALT=1;ODDS=2284.87;PAIRED=0.960265;PAIREDR=0.952043;PAO=0;PQA=0;PQR=0;PRO=0;QA=17927;QR=16677;RO=563;RPL=325;RPP=10.6176;RPPR=3.47699;RPR=279;RUN=1;SAF=332;SAP=15.9529;SAR=272;SF=0;SRF=306;SRP=12.2709;SRR=257;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon6:c.C1445T:p.T482M,PKP2:NM_004572:exon7:c.C1577T:p.T526M;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00379393;avsnp147=rs146882581;Kaviar_AF=0.0023738;Kaviar_AC=367;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0058;ExAC_AMR=0.0042;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0025;ExAC_OTH=0.0044;ExAC_SAS=0;CLNALLELEID=54200;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.07;SIFT_pred=T;Polyphen2_HDIV_score=0.198;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.56;MutationAssessor_pred=L;FATHMM_score=-1.07;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_pred=N;VEST3_score=0.278;CADD_raw=0.934;CADD_phred=10.28;DANN_score=0.914;fathmm-MKL_coding_score=0.058;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.835;MetaSVM_pred=T;MetaLR_score=0.225;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=2.01;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.233;phastCons7way_vertebrate=0.894;phastCons20way_mammalian=0.129;SiPhy_29way_logOdds=8.816;GDI_full_10282015=.;dpsi_max_tissue=-0.1144;dpsi_zscore=-0.491;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM113820#"Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy";gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0052;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1073.32,0,-1013.08:1201:563:604:17927:16677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 33003706 . T C 3236.12 . AB=0.409408;ABP=43.9278;AC=1;AF=0.5;AN=2;AO=235;CIGAR=1X;DP=574;DPB=574;DPRA=0;EPP=5.08937;EPPR=3.01724;GTI=0;LEN=1;MEANALT=3;MQM=33.6723;MQMR=33.0351;NS=1;NUMALT=1;ODDS=745.144;PAIRED=0.93617;PAIREDR=0.948882;PAO=0;PQA=0;PQR=0;PRO=0;QA=6731;QR=9373;RO=313;RPL=59;RPP=129.501;RPPR=60.4607;RPR=176;RUN=1;SAF=132;SAP=10.7814;SAR=103;SF=0;SRF=178;SRP=15.8379;SRR=135;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon5:c.A1372G:p.I458V,PKP2:NM_004572:exon5:c.A1372G:p.I458V;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00159744;avsnp147=rs199571473;Kaviar_AF=0.0010737;Kaviar_AC=166;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0;ExAC_AMR=8.654e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.005e-05;ExAC_OTH=0.0022;ExAC_SAS=0.0091;CLNALLELEID=54188;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.345;SIFT_pred=T;Polyphen2_HDIV_score=0.956;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.712;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.956;MutationTaster_pred=D;MutationAssessor_score=0.555;MutationAssessor_pred=N;FATHMM_score=0.86;FATHMM_pred=T;PROVEAN_score=-0.57;PROVEAN_pred=N;VEST3_score=0.384;CADD_raw=4.775;CADD_phred=24.7;DANN_score=0.998;fathmm-MKL_coding_score=0.864;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.803;MetaSVM_pred=T;MetaLR_score=0.193;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.7;phyloP7way_vertebrate=0.938;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.608;GDI_full_10282015=.;dpsi_max_tissue=-0.0253;dpsi_zscore=-0.138;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.498e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0086;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-347.499,0,-534.539:574:313:235:6731:9373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 33021868 . C T 7360.39 . AB=0.482422;ABP=5.75857;AC=1;AF=0.5;AN=2;AO=494;CIGAR=1X;DP=1024;DPB=1024;DPRA=0;EPP=66.3083;EPPR=72.2358;GTI=0;LEN=1;MEANALT=3;MQM=35.0951;MQMR=37.1827;NS=1;NUMALT=1;ODDS=1694.79;PAIRED=0.888664;PAIREDR=0.953815;PAO=0;PQA=0;PQR=0;PRO=0;QA=13441;QR=13428;RO=498;RPL=169;RPP=109.984;RPPR=39.9166;RPR=325;RUN=1;SAF=268;SAP=10.7643;SAR=226;SF=0;SRF=263;SRP=6.42884;SRR=235;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon4:c.G1163A:p.R388Q,PKP2:NM_004572:exon4:c.G1163A:p.R388Q;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756000218;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.701;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=-0.58;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_pred=N;VEST3_score=0.418;CADD_raw=7.091;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.853;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.494;MetaSVM_pred=T;MetaLR_score=0.373;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.92;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.837;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.936;GDI_full_10282015=.;dpsi_max_tissue=-0.0250;dpsi_zscore=-0.136;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.127e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.956e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.227e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-761.989,0,-812.96:1024:498:494:13441:13428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 33021934 . A G 12470.00 . AB=0.457379;ABP=20.2248;AC=44;AF=0.5;AN=76;AO=499;CIGAR=1X;DP=44501;DPB=1091;DPRA=0;EPP=3.74573;EPPR=3.47866;GTI=0;LEN=1;MEANALT=3;MQM=37.4449;MQMR=38.6863;NS=1;NUMALT=1;ODDS=2034.88;PAIRED=0.937876;PAIREDR=0.930481;PAO=0;PQA=0;PQR=0;PRO=0;QA=14867;QR=17585;RO=561;RPL=336;RPP=133.251;RPPR=209.556;RPR=163;RUN=1;SAF=216;SAP=22.5448;SAR=283;SF=0,1;SRF=241;SRP=27.1674;SRR=320;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.2201;esp6500siv2_ea=0.2301;esp6500siv2_all=0.2201;esp6500siv2_ea=0.2301;1000g2015aug_all=0.151358;avsnp147=rs1046116;Kaviar_AF=0.183161;Kaviar_AC=28317;Kaviar_AN=154602;ExAC_ALL=0.1800;ExAC_AFR=0.1981;ExAC_AMR=0.1187;ExAC_EAS=0.0297;ExAC_FIN=0.1921;ExAC_NFE=0.2099;ExAC_OTH=0.2070;ExAC_SAS=0.1633;CLNALLELEID=54173;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.413;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.148;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.78;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_pred=T;PROVEAN_score=1.04;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=0.112;CADD_phred=3.732;DANN_score=0.241;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.029;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.19;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.157;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=4.800;GDI_full_10282015=.;dpsi_max_tissue=0.0075;dpsi_zscore=0.051;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150226#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1805;gnomAD_exome_AFR=0.1983;gnomAD_exome_AMR=0.1262;gnomAD_exome_ASJ=0.1695;gnomAD_exome_EAS=0.0296;gnomAD_exome_FIN=0.1937;gnomAD_exome_NFE=0.2200;gnomAD_exome_OTH=0.1918;gnomAD_exome_SAS=0.1638;gnomAD_genome_ALL=0.1976;gnomAD_genome_AFR=0.1977;gnomAD_genome_AMR=0.1599;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.0308;gnomAD_genome_FIN=0.1875;gnomAD_genome_NFE=0.2192;gnomAD_genome_OTH=0.2088;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-907.776,0,-1144.29:1091:561:499:14867:17585 0/1:-988.957,0,-1338.28:1279:680:568:16777:20506 0/1:-939.486,0,-975.946:1072:504:531:15542:15591 . . . . 1/1:-2215.07,-281.059,0:1021:8:971:27742:196 . . 0/1:-766.217,0,-945.29:968:493:450:12847:15033 . . 0/1:-670.379,0,-842.686:832:415:397:11341:13042 . 0/1:-1260.85,0,-1494.96:1476:753:692:20681:23180 . . 0/1:-1153.55,0,-1292.08:1346:654:646:18764:20257 0/1:-747.305,0,-989.48:1002:520:456:12966:15765 . 0/1:-1126.79,0,-1169.82:1244:590:621:18226:18441 0/1:-735.287,0,-987.344:957:490:438:12494:15151 . . . 1/1:-2728.26,-271.761,0:1235:40:1164:34275:1055 . . . 0/1:-1017.9,0,-1110.36:1189:566:579:16564:17417 0/1:-986.111,0,-1088.71:1128:552:544:16155:17276 0/1:-909.92,0,-1050.72:1100:550:518:15209:16688 0/1:-628.444,0,-918.342:848:442:375:10883:13761 . . . . 0/1:-1236.89,0,-1526.45:1504:765:701:20404:23775 . 1/1:-2802.79,-329.919,0:1256:14:1201:35226:423 . . . . 1/1:-2812.29,-334.595,0:1270:16:1210:35370:435 . . . 0/1:-818.255,0,-955.567:945:470:447:13305:14782 . . . 0/1:-1106.75,0,-1288.17:1309:653:614:18099:20184 . . . . . . . . 0/1:-928.729,0,-936.406:1026:477:520:14808:14881 1/1:-2722.46,-323.339,0:1229:14:1181:33897:437 . 0/1:-1381.25,0,-1454.6:1501:721:741:22191:22622 . . 0/1:-767.522,0,-1086.65:1041:553:453:13256:17082 . 0/1:-1310.07,0,-1308.88:1431:672:711:20648:20727 0/1:-1078.73,0,-1306.67:1311:666:612:18121:20364 . . . 0/1:-1105.52,0,-1266.8:1341:652:652:18429:20055 0/1:-1107.23,0,-1319.35:1336:666:633:18349:20391 . . . . 0/1:-952.609,0,-1389.82:1328:712:575:16751:21629 0/1:-685.988,0,-565.43:696:306:372:10958:9218 . . 0/1:-927.869,0,-1155.62:1127:576:526:15508:17958 . . . . . . . 0/1:-746.076,0,-806.994:758:377:366:11455:11990:377,366 . . . 0/1:-1256.52,0,-1346.04:1272:633:621:19281:20304:633,621 0/1:-1165.07,0,-1312.83:1211:606:583:18083:19464:606,583 0/1:-1336.6,0,-1397.73:1337:660:668:20664:21089:660,668 . . . . . . 1/1:-3381.11,-352.68,0:1358:19:1319:41209:570:19,1319 . 0/1:-1006.78,0,-1339.67:1126:610:501:15936:19596:610,501 . chr12 33030802 . T C 5003.01 . AB=0.477716;ABP=6.10722;AC=1;AF=0.5;AN=2;AO=343;CIGAR=1X;DP=718;DPB=718;DPRA=0;EPP=10.7656;EPPR=25.735;GTI=0;LEN=1;MEANALT=3;MQM=31.5015;MQMR=32.5494;NS=1;NUMALT=1;ODDS=1151.99;PAIRED=0.921283;PAIREDR=0.918605;PAO=0;PQA=0;PQR=0;PRO=0;QA=9950;QR=10252;RO=344;RPL=117;RPP=78.2268;RPPR=63.6348;RPR=226;RUN=1;SAF=228;SAP=83.8486;SAR=115;SF=0;SRF=251;SRP=160.594;SRR=93;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.A1012G:p.T338A,PKP2:NM_004572:exon3:c.A1012G:p.T338A;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000998403;avsnp147=rs139851304;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0001;ExAC_AMR=0.0005;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0029;ExAC_OTH=0.0023;ExAC_SAS=0.0010;CLNALLELEID=54170;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.444;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-1.25;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.04;CADD_raw=-1.051;CADD_phred=0.012;DANN_score=0.873;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.823;MetaSVM_pred=T;MetaLR_score=0.322;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-8.09;phyloP7way_vertebrate=-0.417;phyloP20way_mammalian=-0.700;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=8.742;GDI_full_10282015=.;dpsi_max_tissue=0.0104;dpsi_zscore=0.071;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0361;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-524.533,0,-548.69:718:344:343:9950:10252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 33031395 . G A 2540.74 . AB=0.422484;ABP=60.577;AC=1;AF=0.5;AN=2;AO=466;CIGAR=1X;DP=1103;DPB=1103;DPRA=0;EPP=40.7548;EPPR=94.7425;GTI=0;LEN=1;MEANALT=3;MQM=19.0129;MQMR=23.6205;NS=1;NUMALT=1;ODDS=585.028;PAIRED=0.946352;PAIREDR=0.985149;PAO=0;PQA=0;PQR=0;PRO=0;QA=13306;QR=19630;RO=606;RPL=285;RPP=53.4108;RPPR=32.0349;RPR=181;RUN=1;SAF=207;SAP=15.6104;SAR=259;SF=0;SRF=295;SRP=3.92762;SRR=311;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.C419T:p.S140F,PKP2:NM_004572:exon3:c.C419T:p.S140F;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0029;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0029;1000g2015aug_all=0.00119808;avsnp147=rs150821281;Kaviar_AF=0.002445;Kaviar_AC=378;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0003;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0029;ExAC_NFE=0.0033;ExAC_OTH=0.0011;ExAC_SAS=0.0018;CLNALLELEID=54244;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.055;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.838;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-1.45;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_pred=N;VEST3_score=0.669;CADD_raw=2.985;CADD_phred=22.2;DANN_score=0.983;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.767;MetaSVM_pred=T;MetaLR_score=0.303;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.38;phyloP7way_vertebrate=0.866;phyloP20way_mammalian=0.949;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=6.488;GDI_full_10282015=.;dpsi_max_tissue=-0.0100;dpsi_zscore=-0.037;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM043054#"Arrhythmogenic_right_ventricular_dysplasia";gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0020;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-276.084,0,-759.127:1103:606:466:13306:19630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 33031884 . G T 11025.10 . AB=0.506814;ABP=3.48381;AC=1;AF=0.5;AN=2;AO=595;CIGAR=1X;DP=1174;DPB=1174;DPRA=0;EPP=165.491;EPPR=176.152;GTI=0;LEN=1;MEANALT=3;MQM=39.2471;MQMR=40.0967;NS=1;NUMALT=1;ODDS=2487.42;PAIRED=0.968067;PAIREDR=0.989455;PAO=0;PQA=0;PQR=0;PRO=0;QA=17657;QR=17001;RO=569;RPL=223;RPP=84.0336;RPPR=81.0497;RPR=372;RUN=1;SAF=378;SAP=97.6099;SAR=217;SF=0;SRF=332;SRP=37.4524;SRR=237;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon2:c.C306A:p.S102S,PKP2:NM_004572:exon2:c.C306A:p.S102S;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs376613662;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0013;CLNALLELEID=230323;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0970;dpsi_zscore=0.474;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.933e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.971e-05;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1145.04,0,-1117.5:1174:569:595:17657:17001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 33049457 . C A 3942.87 . AB=0.422348;ABP=30.6637;AC=7;AF=0.5;AN=12;AO=223;CIGAR=1X;DP=3049;DPB=528;DPRA=0;EPP=19.3791;EPPR=5.38718;GTI=0;LEN=1;MEANALT=3;MQM=25.6368;MQMR=27.8378;NS=1;NUMALT=1;ODDS=401.37;PAIRED=0.93722;PAIREDR=0.932432;PAO=0;PQA=0;PQR=0;PRO=0;QA=5577;QR=8579;RO=296;RPL=90;RPP=21.015;RPPR=95.0338;RPR=133;RUN=1;SAF=154;SAP=73.3641;SAR=69;SF=0,1;SRF=203;SRP=91.7766;SRR=93;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.G209T:p.S70I,PKP2:NM_004572:exon1:c.G209T:p.S70I;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0186;esp6500siv2_ea=0.0261;esp6500siv2_all=0.0186;esp6500siv2_ea=0.0261;1000g2015aug_all=0.0131789;avsnp147=rs75909145;Kaviar_AF=0.0189131;Kaviar_AC=2924;Kaviar_AN=154602;ExAC_ALL=0.0242;ExAC_AFR=0.0060;ExAC_AMR=0.0145;ExAC_EAS=0.0003;ExAC_FIN=0.0189;ExAC_NFE=0.0289;ExAC_OTH=0.0226;ExAC_SAS=0.0431;CLNALLELEID=54224;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.294;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.116;Polyphen2_HVAR_pred=B;LRT_score=0.859;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=-1.41;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_pred=N;VEST3_score=0.256;CADD_raw=3.446;CADD_phred=23.0;DANN_score=0.987;fathmm-MKL_coding_score=0.633;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.737;MetaSVM_pred=T;MetaLR_score=0.187;MetaLR_pred=T;integrated_fitCons_score=0.652;integrated_confidence_value=0;GERP++_RS=3.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.826;phastCons7way_vertebrate=0.320;phastCons20way_mammalian=0.949;SiPhy_29way_logOdds=7.581;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0212;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0123;gnomAD_exome_ASJ=0.0402;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0160;gnomAD_exome_NFE=0.0260;gnomAD_exome_OTH=0.0227;gnomAD_exome_SAS=0.0284;gnomAD_genome_ALL=0.0184;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0129;gnomAD_genome_NFE=0.0297;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-194.444,0,-407.335:528:296:223:5577:8579 0/1:-196.585,0,-334.129:480:258:215:5128:7547 . . . . 0/1:-152.265,0,-341.78:450:254:191:4715:7101 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-258.781,0,-343.334:561:287:268:6820:8372 0/1:-140.413,0,-195.591:295:154:134:3335:4473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1491.18,-155.663,0:735:36:696:20163:810:36,696 . . . chr12 33049482 . G T 2389.16 . AB=0.451863;ABP=15.9717;AC=1;AF=0.5;AN=2;AO=291;CIGAR=1X;DP=644;DPB=644;DPRA=0;EPP=7.67412;EPPR=54.1409;GTI=0;LEN=1;MEANALT=3;MQM=25.4811;MQMR=25.1715;NS=1;NUMALT=1;ODDS=550.125;PAIRED=0.893471;PAIREDR=0.909884;PAO=0;PQA=0;PQR=0;PRO=0;QA=7304;QR=9854;RO=344;RPL=94;RPP=82.1758;RPPR=133.905;RPR=197;RUN=1;SAF=173;SAP=25.5832;SAR=118;SF=0;SRF=169;SRP=3.23755;SRR=175;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.C184A:p.Q62K,PKP2:NM_004572:exon1:c.C184A:p.Q62K;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs199601548;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=171151;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.392;SIFT_pred=T;Polyphen2_HDIV_score=0.483;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.085;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.900;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-1.36;FATHMM_pred=T;PROVEAN_score=-1.03;PROVEAN_pred=N;VEST3_score=0.769;CADD_raw=3.114;CADD_phred=22.5;DANN_score=0.984;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.527;MetaSVM_pred=T;MetaLR_score=0.279;MetaLR_pred=T;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=4.06;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.923;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.383;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM061171#"Arrhythmogenic_right_ventricular_dysplasia";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=8.374e-05;gnomAD_exome_AMR=3.166e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.006e-05;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-258.157,0,-398.831:644:344:291:7304:9854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 33049590 . C T 2865.57 . AB=0.491228;ABP=3.42936;AC=2;AF=0.5;AN=4;AO=308;CIGAR=1X;DP=1636;DPB=627;DPRA=0;EPP=37.5565;EPPR=3.40881;GTI=0;LEN=1;MEANALT=3;MQM=18.9545;MQMR=18.4494;NS=1;NUMALT=1;ODDS=452.354;PAIRED=0.909091;PAIREDR=0.88764;PAO=0;PQA=0;PQR=0;PRO=0;QA=8274;QR=7899;RO=267;RPL=218;RPP=118.521;RPPR=67.4306;RPR=90;RUN=1;SAF=103;SAP=76.3609;SAR=205;SF=0,1;SRF=88;SRP=70.3585;SRR=179;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.G76A:p.D26N,PKP2:NM_004572:exon1:c.G76A:p.D26N;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;1000g2015aug_all=0.00299521;avsnp147=rs143004808;Kaviar_AF=0.0058925;Kaviar_AC=911;Kaviar_AN=154602;ExAC_ALL=0.0140;ExAC_AFR=0.0032;ExAC_AMR=0.0156;ExAC_EAS=0;ExAC_FIN=0.0065;ExAC_NFE=0.0231;ExAC_OTH=0.0041;ExAC_SAS=0.0047;CLNALLELEID=54251;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.874;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-1.72;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=6.871;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.750;fathmm-MKL_coding_pred=D;MetaSVM_score=0.033;MetaSVM_pred=D;MetaLR_score=0.451;MetaLR_pred=T;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=4.07;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.822;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.410;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM061172#"Arrhythmogenic_right_ventricular_dysplasia";gnomAD_exome_ALL=0.0084;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0055;gnomAD_exome_ASJ=0.0448;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0097;gnomAD_exome_OTH=0.0103;gnomAD_exome_SAS=0.0040;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-258.993,0,-217.929:627:267:308:8274:7899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-595.404,0,-837.235:1009:519:461:13493:16478:519,461 . . chr12 98926748 . T G 9456.91 . AB=0.491107;ABP=3.70551;AC=1;AF=0.5;AN=2;AO=497;CIGAR=1X;DP=1012;DPB=1012;DPRA=0;EPP=64.882;EPPR=75.5358;GTI=0;LEN=1;MEANALT=3;MQM=38.5815;MQMR=39.2747;NS=1;NUMALT=1;ODDS=2177.53;PAIRED=0.981891;PAIREDR=0.982213;PAO=0;PQA=0;PQR=0;PRO=0;QA=15035;QR=16209;RO=506;RPL=258;RPP=4.58757;RPPR=18.4595;RPR=239;RUN=1;SAF=256;SAP=3.99336;SAR=241;SF=0;SRF=263;SRP=4.72688;SRR=243;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.T713G:p.L238R;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0191;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0191;esp6500siv2_ea=0.0006;1000g2015aug_all=0.0191693;avsnp147=rs35998138;Kaviar_AF=0.0054398;Kaviar_AC=841;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0592;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=45536;CLNDN=Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.082;SIFT_pred=T;Polyphen2_HDIV_score=0.451;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.234;Polyphen2_HVAR_pred=B;LRT_score=0.159;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=1.49;FATHMM_pred=T;PROVEAN_score=1.34;PROVEAN_pred=N;VEST3_score=0.193;CADD_raw=2.731;CADD_phred=21.0;DANN_score=0.986;fathmm-MKL_coding_score=0.425;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.097;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_pred=T;integrated_fitCons_score=0.675;integrated_confidence_value=0;GERP++_RS=1.25;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=3.881;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0596;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0173;gnomAD_genome_AFR=0.0599;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-960.138,0,-1065.2:1012:506:497:15035:16209 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 98926863 . GTTTATTTC GTTATTTC 8163.10 . AB=0.439002;ABP=37.9786;AC=1;AF=0.5;AN=2;AO=475;CIGAR=1M1D7M;DP=1082;DPB=1024.67;DPRA=0;EPP=255.473;EPPR=234.069;GTI=0;LEN=1;MEANALT=39;MQM=40.6968;MQMR=41.1021;NS=1;NUMALT=1;ODDS=1879.62;PAIRED=0.978947;PAIREDR=0.978805;PAO=1.5;PQA=34;PQR=34;PRO=1.5;QA=13097;QR=16249;RO=519;RPL=283;RPP=40.8671;RPPR=40.7705;RPR=192;RUN=1;SAF=223;SAP=6.85495;SAR=252;SF=1;SRF=249;SRP=4.85542;SRR=270;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TMPO:NM_003276:exon4:c.829delT:p.F277fs;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-854.679,0,-1125.92:1082:519:475:13097:16249:519,475 . . . . . . . . . chr12 98926912 . T G 9065.38 . AB=0.498992;ABP=3.01906;AC=1;AF=0.5;AN=2;AO=495;CIGAR=1X;DP=992;DPB=992;DPRA=0;EPP=9.01585;EPPR=16.4432;GTI=0;LEN=1;MEANALT=3;MQM=38.7414;MQMR=39.5297;NS=1;NUMALT=1;ODDS=2087.38;PAIRED=0.993939;PAIREDR=0.97137;PAO=0;PQA=0;PQR=0;PRO=0;QA=14524;QR=15090;RO=489;RPL=345;RPP=169.819;RPPR=72.3953;RPR=150;RUN=1;SAF=213;SAP=23.8959;SAR=282;SF=0;SRF=219;SRP=14.5604;SRR=270;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.T877G:p.S293A;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0191;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0191;esp6500siv2_ea=0.0006;1000g2015aug_all=0.0191693;avsnp147=rs35645287;Kaviar_AF=0.0054074;Kaviar_AC=836;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0593;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=45537;CLNDN=Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.181;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=0.1;PROVEAN_pred=N;VEST3_score=0.062;CADD_raw=2.192;CADD_phred=17.46;DANN_score=0.984;fathmm-MKL_coding_score=0.672;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.056;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=1.96;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=4.335;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0596;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0172;gnomAD_genome_AFR=0.0597;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-934.273,0,-988.351:992:489:495:14524:15090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 98926985 . C G 5912.55 . AB=0.468481;ABP=9.03318;AC=1;AF=0.5;AN=2;AO=327;CIGAR=1X;DP=698;DPB=698;DPRA=0;EPP=18.9544;EPPR=10.5034;GTI=0;LEN=1;MEANALT=3;MQM=37.4954;MQMR=37.9239;NS=1;NUMALT=1;ODDS=1361.42;PAIRED=0.960245;PAIREDR=0.949296;PAO=0;PQA=0;PQR=0;PRO=0;QA=9925;QR=11018;RO=355;RPL=93;RPP=135.032;RPPR=207.857;RPR=234;RUN=1;SAF=163;SAP=3.01694;SAR=164;SF=0;SRF=185;SRP=4.38659;SRR=170;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C950G:p.T317S;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0386;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0386;esp6500siv2_ea=0.0017;1000g2015aug_all=0.0299521;avsnp147=rs35969221;Kaviar_AF=0.010168;Kaviar_AC=1572;Kaviar_AN=154602;ExAC_ALL=0.0106;ExAC_AFR=0.1091;ExAC_AMR=0.0061;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0077;ExAC_SAS=0.0002;CLNALLELEID=45538;CLNDN=Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.064;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=3.863;CADD_phred=23.5;DANN_score=0.974;fathmm-MKL_coding_score=0.918;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.087;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.53;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.941;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.309;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0087;gnomAD_exome_AFR=0.1095;gnomAD_exome_AMR=0.0061;gnomAD_exome_ASJ=0.0117;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0088;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0324;gnomAD_genome_AFR=0.1113;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-614.284,0,-707.34:698:355:327:9925:11018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 98927469 . G C 6115.13 . AB=0.44837;ABP=20.0516;AC=1;AF=0.5;AN=2;AO=330;CIGAR=1X;DP=736;DPB=736;DPRA=0;EPP=16.934;EPPR=3.59091;GTI=0;LEN=1;MEANALT=3;MQM=39.2;MQMR=40.2193;NS=1;NUMALT=1;ODDS=1408.06;PAIRED=0.981818;PAIREDR=0.994652;PAO=0;PQA=0;PQR=0;PRO=0;QA=9824;QR=11041;RO=374;RPL=198;RPP=31.6737;RPPR=107.264;RPR=132;RUN=1;SAF=188;SAP=16.934;SAR=142;SF=0;SRF=236;SRP=58.7719;SRR=138;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.G1434C:p.K478N;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0191;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0191;esp6500siv2_ea=0.0006;1000g2015aug_all=0.0191693;avsnp147=rs35761089;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0591;ExAC_AMR=0.0032;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=45535;CLNDN=Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.277;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_pred=N;VEST3_score=0.055;CADD_raw=-0.265;CADD_phred=0.795;DANN_score=0.963;fathmm-MKL_coding_score=0.164;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.098;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=2.77;phyloP7way_vertebrate=0.034;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.078;phastCons20way_mammalian=0.779;SiPhy_29way_logOdds=5.523;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0596;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0172;gnomAD_genome_AFR=0.0593;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-625.367,0,-742.566:736:374:330:9824:11041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 98927830 . C G 8225.01 . AB=0.5;ABP=3.0103;AC=26;AF=0.5;AN=50;AO=335;CIGAR=1X;DP=22203;DPB=670;DPRA=0;EPP=61.5104;EPPR=60.807;GTI=0;LEN=1;MEANALT=3;MQM=39.0328;MQMR=39.7704;NS=1;NUMALT=1;ODDS=1399.15;PAIRED=0.985075;PAIREDR=0.984277;PAO=0;PQA=0;PQR=0;PRO=0;QA=9682;QR=9536;RO=318;RPL=168;RPP=3.01678;RPPR=4.7584;RPR=167;RUN=1;SAF=182;SAP=8.46167;SAR=153;SF=0,1;SRF=192;SRP=32.7554;SRR=126;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C1795G:p.Q599E;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0711;esp6500siv2_ea=0.0965;esp6500siv2_all=0.0711;esp6500siv2_ea=0.0965;1000g2015aug_all=0.0589058;avsnp147=rs17459334;Kaviar_AF=0.0845397;Kaviar_AC=13070;Kaviar_AN=154602;ExAC_ALL=0.0875;ExAC_AFR=0.0162;ExAC_AMR=0.0403;ExAC_EAS=0.0005;ExAC_FIN=0.1034;ExAC_NFE=0.0989;ExAC_OTH=0.0958;ExAC_SAS=0.1595;CLNALLELEID=53834;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.1;SIFT_pred=T;Polyphen2_HDIV_score=0.919;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.45;Polyphen2_HVAR_pred=P;LRT_score=0.054;LRT_pred=N;MutationTaster_score=0.511;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-0.13;PROVEAN_pred=N;VEST3_score=0.218;CADD_raw=1.914;CADD_phred=15.67;DANN_score=0.983;fathmm-MKL_coding_score=0.819;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.063;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.96;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.922;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0862;gnomAD_exome_AFR=0.0149;gnomAD_exome_AMR=0.0403;gnomAD_exome_ASJ=0.1079;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.1001;gnomAD_exome_NFE=0.0986;gnomAD_exome_OTH=0.0841;gnomAD_exome_SAS=0.1584;gnomAD_genome_ALL=0.0686;gnomAD_genome_AFR=0.0190;gnomAD_genome_AMR=0.0489;gnomAD_genome_ASJ=0.0767;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1085;gnomAD_genome_NFE=0.0957;gnomAD_genome_OTH=0.0804;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-634.539,0,-624.298:670:318:335:9682:9536 0/1:-761.682,0,-1087.48:988:543:427:12408:16263 0/1:-1134.02,0,-1280.43:1282:643:621:17813:19495 . . . . . . 0/1:-835.235,0,-936.291:954:479:452:13250:14271 0/1:-804.455,0,-810.336:882:416:441:12729:12597 0/1:-852.053,0,-869.642:931:449:461:13135:13361 1/1:-3231.28,-351.861,0:1385:32:1333:38657:740 . . . 0/1:-644.426,0,-858.399:811:430:362:10229:13029 . . 0/1:-440.589,0,-805.79:685:395:273:7710:11984 . 0/1:-984.752,0,-1188.23:1146:586:535:15457:18040 0/1:-739.289,0,-821.342:857:428:418:11777:12785 0/1:-951.035,0,-1066.06:1059:519:524:14865:16031 . 0/1:-651.003,0,-929.48:860:455:385:10800:13846 . 0/1:-782.999,0,-785.98:836:410:412:11983:12202 . . . . . . . . . . . . 0/1:-1005.37,0,-1005.04:1047:493:538:15572:15289 . . . . . . . . . . . . . . . . . 0/1:-1236.56,0,-1228.64:1330:634:668:19230:19097 . . . 0/1:-952.506,0,-1176.61:1117:578:513:14770:17540 0/1:-474.246,0,-520.796:552:273:257:7453:8095 . . . 0/1:-1007.77,0,-1022.32:1085:520:545:15589:15837 . . . . . . . . 0/1:-625.965,0,-629.393:654:316:328:9769:9805 . . . . . . . . 0/1:-458.706,0,-647.477:605:324:265:7430:9649 . . . 0/1:-1122.68,0,-1267.32:1230:616:589:17369:18953 . . . . . . . . . . . 0/1:-492.157,0,-466.57:461:218:234:7232:7023:218,234 . . 0/1:-391.601,0,-373.316:364:177:184:5739:5525:177,184 . 0/1:-398.196,0,-471.524:412:216:192:5962:6910:216,192 . . . . . . chr12 98938323 . T C 4156.67 . AB=0.486667;ABP=3.70517;AC=1;AF=0.5;AN=2;AO=219;CIGAR=1X;DP=450;DPB=450;DPRA=0;EPP=100.191;EPPR=104.776;GTI=0;LEN=1;MEANALT=3;MQM=38.4429;MQMR=37.5225;NS=1;NUMALT=1;ODDS=957.108;PAIRED=0.977169;PAIREDR=0.963964;PAO=0;PQA=0;PQR=0;PRO=0;QA=6816;QR=7032;RO=222;RPL=119;RPP=6.58976;RPPR=21.9471;RPR=100;RUN=1;SAF=90;SAP=18.0916;SAR=129;SF=0;SRF=85;SRP=29.4592;SRR=137;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.2518;dpsi_zscore=-1.974;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-434.794,0,-447.119:450:222:219:6816:7032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 98940133 . T C 7797.42 . AB=0.46652;ABP=11.8797;AC=1;AF=0.5;AN=2;AO=425;CIGAR=1X;DP=911;DPB=911;DPRA=0;EPP=36.5327;EPPR=43.4895;GTI=0;LEN=1;MEANALT=3;MQM=39.5129;MQMR=40.5401;NS=1;NUMALT=1;ODDS=1795.42;PAIRED=0.978824;PAIREDR=0.972574;PAO=0;PQA=0;PQR=0;PRO=0;QA=12440;QR=14412;RO=474;RPL=172;RPP=36.5327;RPPR=48.822;RPR=253;RUN=1;SAF=184;SAP=19.6106;SAR=241;SF=0;SRF=187;SRP=48.822;SRR=287;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0192;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0192;esp6500siv2_ea=0.0006;1000g2015aug_all=0.0191693;avsnp147=rs112475937;Kaviar_AF=0.0054527;Kaviar_AC=843;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0599;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=52864;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9189;dpsi_zscore=-1.423;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0596;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0174;gnomAD_genome_AFR=0.0604;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-796.525,0,-974.046:911:474:425:12440:14412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 98940228 . ATT ATTT 7003.50 . AB=0.468798;ABP=8.56623;AC=9;AF=0.5;AN=16;AO=308;CIGAR=1M1I2M;DP=6060;DPB=763;DPRA=0;EPP=3.71532;EPPR=8.26473;GTI=0;LEN=1;MEANALT=13;MQM=40.1071;MQMR=40.1821;NS=1;NUMALT=1;ODDS=1178.06;PAIRED=0.983766;PAIREDR=0.972222;PAO=0.5;PQA=10.5;PQR=10.5;PRO=0.5;QA=8184;QR=9871;RO=324;RPL=123;RPP=30.1114;RPPR=30.462;RPR=185;RUN=1;SAF=108;SAP=62.6835;SAR=200;SF=0;SRF=96;SRP=119.787;SRR=228;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-528.067,0,-661.657:657:324:308:8184:9871 . . . . . . 1/1:-1851.97,-189.956,0:914:33:850:21976:953 . . . . . . . . . 0/1:-754.733,0,-772.398:850:387:441:11485:11985 0/1:-352.761,0,-541.68:522:276:223:5774:8142 . . . . . . . . . . . 0/1:-628.28,0,-770.721:789:388:379:9797:11754 . . . . . . . . . . . . . 0/1:-313.313,0,-619.53:619:338:261:5659:9360 . . . . . 0/1:-485.707,0,-720.783:671:346:305:7764:10572 . . 0/1:-843.88,0,-1019.99:1038:507:501:13098:15442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 111350999 . G A,T 8972.54 . AB=0.521494;ABP=8.70449;AC=43,2;AF=0.5;AN=84;AO=740;CIGAR=1X;DP=46562;DPB=1419;DPRA=0;EPP=5.65128;EPPR=116.631;GTI=0;LEN=1;MEANALT=3;MQM=30.1932;MQMR=31.0743;NS=1;NUMALT=1;ODDS=1618.26;PAIRED=0.928378;PAIREDR=0.918919;PAO=0;PQA=0;PQR=0;PRO=0;QA=20289;QR=16025;RO=592;RPL=420;RPP=32.3545;RPPR=217.825;RPR=320;RUN=1;SAF=395;SAP=10.3464;SAR=345;SF=0,1;SRF=317;SRP=9.4807;SRR=275;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.14996;avsnp147=rs2233260;Kaviar_AF=0.199583;Kaviar_AC=30856;Kaviar_AN=154602;ExAC_ALL=0.2047;ExAC_AFR=0.1612;ExAC_AMR=0.3360;ExAC_EAS=0.0029;ExAC_FIN=0.2741;ExAC_NFE=0.2259;ExAC_OTH=0.2190;ExAC_SAS=0.1245;CLNALLELEID=40434;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8723;dpsi_zscore=-1.393;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2106;gnomAD_exome_AFR=0.1584;gnomAD_exome_AMR=0.3238;gnomAD_exome_ASJ=0.1132;gnomAD_exome_EAS=0.0030;gnomAD_exome_FIN=0.2667;gnomAD_exome_NFE=0.2342;gnomAD_exome_OTH=0.2286;gnomAD_exome_SAS=0.1245;gnomAD_genome_ALL=0.2083;gnomAD_genome_AFR=0.1610;gnomAD_genome_AMR=0.3014;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.0037;gnomAD_genome_FIN=0.2712;gnomAD_genome_NFE=0.2366;gnomAD_genome_OTH=0.2485;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00439297;avsnp147=rs2233260;Kaviar_AF=0.0109701;Kaviar_AC=1696;Kaviar_AN=154602;ExAC_ALL=0.0120;ExAC_AFR=0.0018;ExAC_AMR=0.0056;ExAC_EAS=0.0001;ExAC_FIN=0.0442;ExAC_NFE=0.0142;ExAC_OTH=0.0221;ExAC_SAS=0.0064;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6392;dpsi_zscore=-1.773;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0076;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0489;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0150;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0149;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0108;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0432;gnomAD_genome_NFE=0.0181;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1053.46,0,-748.735,.,.,.:1419:592:740,.:20289,.:16025 . 0/1:-557.978,0,-378.939,.,.,.:720:305:374,.:10279,.:8122 0/1:-839,0,-597.811,.,.,.:1144:479:594,.:16046,.:13031 . . 0/1:-955.494,0,-695.21,.,.,.:1267:532:664,.:18047,.:14512 . 0/1:-762.209,0,-725.396,.,.,.:1202:554:578,.:15412,.:14583 . . . . . 0/1:-1110.85,0,-948.198,.,.,.:1552:702:773,.:20995,.:19103 0/1:-561.635,0,-344.885,.,.,.:826:366:409,.:10939,.:10234 . . . 1/1:-1534.91,-221.023,0,.,.,.:873:19:805,.:21967,.:381 0/1:-905.16,0,-796.016,.,.,.:1286:566:638,.:17246,.:15569 0/1:-423.323,0,-349.76,.,.,.:671:296:325,.:8646,.:7776 . . . 0/2:-470.896,.,.,0,.,-812.882:1062:587:.,437:.,10588:15633 0/1:-839.091,0,-671.314,.,.,.:1099:474:574,.:15774,.:13210 . 0/1:-624.739,0,-495.974,.,.,.:845:374:432,.:11824,.:10173 0/1:-605.683,0,-602.229,.,.,.:959:455:445,.:12096,.:12246 . . . 0/1:-781.136,0,-736.967,.,.,.:1173:547:558,.:15327,.:14857 . . . 0/1:-812.47,0,-812.767,.,.,.:1230:579:586,.:15707,.:16173 . 0/1:-1063.78,0,-571.203,.,.,.:1383:562:758,.:20256,.:15312 0/1:-786.932,0,-591.349,.,.,.:1076:459:554,.:15126,.:12465 . 0/1:-824.255,0,-582.355,.,.,.:1103:485:562,.:15523,.:13690 . . 0/1:-805.652,0,-705.507,.,.,.:1157:525:560,.:15297,.:14090 0/1:-581.422,0,-335.628,.,.,.:692:269:383,.:10770,.:7374 0/1:-833.705,0,-584.091,.,.,.:1070:443:578,.:15812,.:12093 . . . . . 0/1:-459.035,0,-439.171,.,.,.:804:357:389,.:10244,.:9506 0/1:-697.052,0,-529.604,.,.,.:931:396:481,.:12748,.:10861 . . . 0/1:-764.998,0,-580.077,.,.,.:1165:536:567,.:15174,.:14475 . . . . . 0/1:-820.654,0,-741.155,.,.,.:1227:560:608,.:16170,.:15121 . . . . . . . 0/1:-474.412,0,-282.844,.,.,.:717:283:391,.:10291,.:7230 . 0/1:-941.274,0,-764.836,.,.,.:1332:580:670,.:18040,.:15419 . 1/2:-1818.05,-696.931,-552.139,-1080.24,0,-983.007:1310:63:680,522:18632,12383:1179 . . . . . 0/1:-715.308,0,-664.021,.,.,.:1072:495:520,.:14029,.:13641 . 0/1:-735.181,0,-575.913,.,.,.:1046:451:528,.:14209,.:11993 . . . . . 0/1:-688.427,0,-585.372,.,.,.:1036:482:491,.:13388,.:12534 0/1:-942.791,0,-899.948,.,.,.:1402:645:663,.:18246,.:17816 . . . . 0/1:-1267.6,0,-984.281,.,.,.:1215:550:635,.:19747,.:16694:550,635 . . 0/1:-1236.03,0,-917.912,.,.,.:1183:525:634,.:19722,.:15821:525,634 . . 0/1:-1254.88,0,-926.53,.,.,.:1232:550:655,.:19972,.:16149:550,655 . . 0/1:-1142.51,0,-1048.18,.,.,.:1232:593:609,.:18785,.:17770:593,609 . . . 1/1:-2959.96,-289.983,0,.,.,.:1291:39:1231,.:38168,.:1135:39,1231 0/1:-1202.33,0,-816.346,.,.,.:1154:507:618,.:18797,.:14693:507,618 0/1:-1200.74,0,-1049.35,.,.,.:1280:605:636,.:19834,.:18039:605,636 0/1:-1175.92,0,-838.821,.,.,.:1103:488:599,.:18755,.:14399:488,599 0/1:-1104.85,0,-760.148,.,.,.:1021:454:548,.:17078,.:13469:454,548 . chr12 111351002 . CAG CG 3570.79 . AB=0.36489;ABP=175.523;AC=1;AF=0.5;AN=2;AO=397;CIGAR=1M1D1M;DP=1088;DPB=977.667;DPRA=0;EPP=27.5638;EPPR=6.31267;GTI=0;LEN=1;MEANALT=22;MQM=26.6599;MQMR=31.1881;NS=1;NUMALT=1;ODDS=822.205;PAIRED=0.93199;PAIREDR=0.934901;PAO=41;PQA=763.5;PQR=98.5;PRO=6;QA=9235;QR=16543;RO=553;RPL=260;RPP=85.7614;RPPR=53.1505;RPR=137;RUN=1;SAF=165;SAP=27.5638;SAR=232;SF=0;SRF=308;SRP=18.5954;SRR=245;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=0.0397;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0397;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0449281;avsnp147=rs369884745;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;ExAC_ALL=0.0110;ExAC_AFR=0.1179;ExAC_AMR=0.0050;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0004;ExAC_OTH=0.0034;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0085;gnomAD_exome_AFR=0.1176;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0340;gnomAD_genome_AFR=0.1177;gnomAD_genome_AMR=0.0098;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0042;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-383.754,0,-915.378:1088:553:397:9235:16543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 111351003 . AGGGGGC AGGGGGGC 1436.95 . AB=0.347146;ABP=262.57;AC=14;AF=0.5;AN=28;AO=444;CIGAR=1M1I6M;DP=14243;DPB=1425.29;DPRA=0;EPP=18.3475;EPPR=8.3483;GTI=0;LEN=1;MEANALT=147;MQM=24.9324;MQMR=33.6817;NS=1;NUMALT=1;ODDS=601.674;PAIRED=0.941441;PAIREDR=0.918736;PAO=79.5;PQA=1417;PQR=1417;PRO=79.5;QA=7765;QR=12821;RO=443;RPL=227;RPP=3.49937;RPPR=193.242;RPR=217;RUN=1;SAF=285;SAP=80.6551;SAR=159;SF=0;SRF=207;SRP=7.13267;SRR=236;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=0.0663;esp6500siv2_ea=0.0664;esp6500siv2_all=0.0663;esp6500siv2_ea=0.0664;1000g2015aug_all=0.10024;avsnp147=rs142220381;Kaviar_AF=0.0071668;Kaviar_AC=1108;Kaviar_AN=154602;ExAC_ALL=0.0877;ExAC_AFR=0.0870;ExAC_AMR=0.0282;ExAC_EAS=0.2210;ExAC_FIN=0.0732;ExAC_NFE=0.0702;ExAC_OTH=0.0765;ExAC_SAS=0.1369;CLNALLELEID=40435;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0741;gnomAD_exome_AFR=0.0569;gnomAD_exome_AMR=0.0233;gnomAD_exome_ASJ=0.0303;gnomAD_exome_EAS=0.2121;gnomAD_exome_FIN=0.0654;gnomAD_exome_NFE=0.0653;gnomAD_exome_OTH=0.0587;gnomAD_exome_SAS=0.1222;gnomAD_genome_ALL=0.0787;gnomAD_genome_AFR=0.0682;gnomAD_genome_AMR=0.0417;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.2432;gnomAD_genome_FIN=0.0639;gnomAD_genome_NFE=0.0729;gnomAD_genome_OTH=0.0793;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-278.579,0,-631.122:1279:443:444:7765:12821 . . . . . . 0/1:-149.61,0,-507.338:965:356:290:4881:10169 . 0/1:-127.576,0,-426.735:807:299:259:4266:8478 . 0/1:-72.7387,0,-544.368:796:356:233:3792:10667 . 0/1:-188.117,0,-447.094:998:356:325:5859:10186 . . . . . . . . . 0/1:-97.408,0,-274.735:664:227:210:3448:6395 . . 0/1:-218.056,0,-487.338:1165:380:403:6658:11063 . 0/1:-217.223,0,-506.423:1069:373:362:6194:10750 . . . . . . 0/1:-102.976,0,-882.083:1310:592:359:6133:17936 . . . 0/1:-242.28,0,-600.627:1248:446:430:7203:12713 . . . . . . . . . . . . . . 0/1:-147.494,0,-676.517:1127:467:343:5845:13860 . . . . . . . . . . 0/1:-162.957,0,-536.898:1014:383:322:5353:10857 . 0/1:-193.659,0,-620.615:1192:458:375:6549:12963 . . . . . . 0/1:-70.1605,0,-370.612:609:248:161:2937:7097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 111351029 . TCCCCCACAG TCCCCACAG,ACCCCCACAG,GCCCCCACAG 5121.93 . AB=0.47553;ABP=9.38656;AC=57,0,0;AF=0.5;AN=114;AO=583;CIGAR=1M1D5M;DP=55172;DPB=1196.43;DPRA=0;EPP=7.06645;EPPR=18.1742;GTI=0;LEN=1;MEANALT=111;MQM=30.5455;MQMR=32.1872;NS=1;NUMALT=1;ODDS=822.668;PAIRED=0.927959;PAIREDR=0.832402;PAO=69;PQA=1846;PQR=1970;PRO=72;QA=12148;QR=10513;RO=358;RPL=275;RPP=7.06645;RPPR=36.2253;RPR=308;RUN=1;SAF=161;SAP=256.737;SAR=422;SF=0,1;SRF=30;SRP=541.657;SRR=328;TYPE=del;technology.ILLUMINA=1;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=0.2806;esp6500siv2_ea=0.3138;esp6500siv2_all=0.2806;esp6500siv2_ea=0.3138;1000g2015aug_all=0.252596;avsnp147=rs3833910;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;ExAC_ALL=0.2888;ExAC_AFR=0.2250;ExAC_AMR=0.3635;ExAC_EAS=0.2273;ExAC_FIN=0.3468;ExAC_NFE=0.2953;ExAC_OTH=0.2947;ExAC_SAS=0.2590;CLNALLELEID=40432;CLNDN=Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided;CLNDISDB=MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2873;gnomAD_exome_AFR=0.2138;gnomAD_exome_AMR=0.3519;gnomAD_exome_ASJ=0.1434;gnomAD_exome_EAS=0.2073;gnomAD_exome_FIN=0.3335;gnomAD_exome_NFE=0.3028;gnomAD_exome_OTH=0.2897;gnomAD_exome_SAS=0.2482;gnomAD_genome_ALL=0.2850;gnomAD_genome_AFR=0.2264;gnomAD_genome_AMR=0.3401;gnomAD_genome_ASJ=0.1767;gnomAD_genome_EAS=0.2466;gnomAD_genome_FIN=0.3338;gnomAD_genome_NFE=0.3084;gnomAD_genome_OTH=0.3258;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8548;dpsi_zscore=1.427;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2333;dpsi_zscore=-0.748;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:.,.,-444.371,.,.,.,.,.,.,.:1226:358:583,.,.:12148,.,.:10513 . 0/1:.,.,-309.969,.,.,.,.,.,.,.:649:208:291,.,.:6251,.,.:6294 0/1:.,.,-348.376,.,.,.,.,.,.,.:955:276:431,.,.:8757,.,.:8345 0/1:.,.,-649.312,.,.,.,.,.,.,.:1176:404:490,.,.:8976,.,.:12332 . 0/1:.,.,-566.392,.,.,.,.,.,.,.:1155:348:528,.,.:11167,.,.:10561 . 0/1:.,.,-534.53,.,.,.,.,.,.,.:1036:352:439,.,.:8878,.,.:10643 . . 0/1:.,.,-576.078,.,.,.,.,.,.,.:917:342:346,.,.:6158,.,.:10524 . 0/1:.,.,-419.266,.,.,.,.,.,.,.:740:263:307,.,.:5431,.,.:7961 0/1:.,.,-783.221,.,.,.,.,.,.,.:1440:493:591,.,.:12438,.,.:14996 1/1:.,.,0,.,.,.,.,.,.,.:712:14:563,.,.:10612,.,.:449 . 0/1:.,.,-490.455,.,.,.,.,.,.,.:926:322:381,.,.:6974,.,.:9764 . 1/1:.,.,0,.,.,.,.,.,.,.:748:9:625,.,.:13109,.,.:275 0/1:.,.,-628.644,.,.,.,.,.,.,.:1186:406:515,.,.:10770,.,.:12210 0/1:.,.,-270.749,.,.,.,.,.,.,.:572:185:243,.,.:4754,.,.:5547 . . . . 0/1:.,.,-416.202,.,.,.,.,.,.,.:950:291:443,.,.:9747,.,.:8789 0/1:.,.,-355.973,.,.,.,.,.,.,.:604:222:236,.,.:3950,.,.:6667 0/1:.,.,-322.774,.,.,.,.,.,.,.:739:219:341,.,.:7083,.,.:6516 0/1:.,.,-460.087,.,.,.,.,.,.,.:845:297:358,.,.:7721,.,.:9004 0/1:.,.,-550.562,.,.,.,.,.,.,.:1073:357:459,.,.:7988,.,.:10775 . 0/1:.,.,-506.718,.,.,.,.,.,.,.:1027:327:414,.,.:7712,.,.:9854 0/1:.,.,-593.547,.,.,.,.,.,.,.:1050:378:455,.,.:9282,.,.:11585 . . . 0/1:.,.,-503.733,.,.,.,.,.,.,.:1008:339:417,.,.:8954,.,.:10244 . 1/1:.,.,0,.,.,.,.,.,.,.:1174:10:993,.,.:19639,.,.:295 0/1:.,.,-419.92,.,.,.,.,.,.,.:991:311:463,.,.:9721,.,.:9395 . 0/1:.,.,-464.967,.,.,.,.,.,.,.:987:340:437,.,.:9204,.,.:10421 0/1:.,.,-586.453,.,.,.,.,.,.,.:1160:374:507,.,.:8982,.,.:11291 . 0/1:.,.,-490.202,.,.,.,.,.,.,.:990:335:436,.,.:9470,.,.:10097 0/1:.,.,-285.689,.,.,.,.,.,.,.:638:190:297,.,.:5965,.,.:5810 0/1:.,.,-432.98,.,.,.,.,.,.,.:934:297:402,.,.:8695,.,.:8895 . . . . . 0/1:.,.,-321.321,.,.,.,.,.,.,.:675:229:295,.,.:5856,.,.:6868 0/1:.,.,-372.178,.,.,.,.,.,.,.:849:260:395,.,.:8596,.,.:7880 . . . 1/1:.,.,0,.,.,.,.,.,.,.:1037:14:857,.,.:16987,.,.:439 . . . . . 0/1:.,.,-535.156,.,.,.,.,.,.,.:1043:352:450,.,.:9812,.,.:10774 . . . . 0/1:.,.,-569.384,.,.,.,.,.,.,.:891:342:322,.,.:5416,.,.:10554 . 0/1:.,.,-621.826,.,.,.,.,.,.,.:1103:399:399,.,.:7123,.,.:12019 0/1:.,.,-225.452,.,.,.,.,.,.,.:624:180:290,.,.:5093,.,.:5410 . 0/1:.,.,-516.76,.,.,.,.,.,.,.:1130:355:510,.,.:10965,.,.:10894 . 0/1:.,.,-517.691,.,.,.,.,.,.,.:1124:357:516,.,.:10665,.,.:10880 . 0/1:.,.,-417.9,.,.,.,.,.,.,.:585:254:169,.,.:3052,.,.:7661 . . . 0/1:.,.,-482.366,.,.,.,.,.,.,.:930:303:395,.,.:8139,.,.:9198 . 0/1:.,.,-415.081,.,.,.,.,.,.,.:964:281:455,.,.:9558,.,.:8754 . . . . . 0/1:.,.,-499.258,.,.,.,.,.,.,.:945:329:381,.,.:7902,.,.:10016 0/1:.,.,-563.737,.,.,.,.,.,.,.:1275:402:553,.,.:11635,.,.:11997 . . . 0/0:.,.,.,.,.,-2041.58,.,.,-1935.57,-2016.02:1147:915:.,102,118:.,1834,2104:27206:915,102,118 0/1:-736.618,0,-695.675,.,.,.,.,.,.,.:1109:356:467,.,.:11701,.,.:11150:356,467 . 0/0:.,.,.,.,.,-1264.52,.,.,-1204.42,-1231.62:665:552:.,43,62:.,790,1173:16316:552,43,62 0/1:-769.1,0,-628.487,.,.,.,.,.,.,.:1047:338:478,.,.:12039,.,.:10726:338,478 . . 0/1:-763.837,0,-558.38,.,.,.,.,.,.,.:1079:311:477,.,.:11965,.,.:9907:311,477 0/0:.,.,.,.,.,-1925.14,.,.,-1821.24,-1874.52:1058:862:.,79,109:.,1433,1987:25156:862,79,109 0/0:.,.,.,.,.,-1992.63,.,.,-1883.67,-1934.03:1062:864:.,72,119:.,1267,2052:25706:864,72,119 0/1:-641.989,0,-717.654,.,.,.,.,.,.,.:1080:370:429,.,.:10657,.,.:11712:370,429 0/0:.,.,.,.,.,-1675.89,.,.,-1597.59,-1653.06:916:736:.,75,94:.,1341,1694:22159:736,75,94 . . 1/1:-1852.56,-283.112,0,.,.,.,.,.,.,.:1173:20:908,.,.:21887,.,.:637:20,908 0/1:-663.347,0,-534.001,.,.,.,.,.,.,.:983:301:419,.,.:10506,.,.:9404:301,419 0/1:-802.772,0,-646.212,.,.,.,.,.,.,.:1176:348:508,.,.:12540,.,.:11133:348,508 0/1:-698.867,0,-491.009,.,.,.,.,.,.,.:947:276:433,.,.:10952,.,.:8704:276,433 0/1:-656.374,0,-574.806,.,.,.,.,.,.,.:947:310:412,.,.:10374,.,.:9874:310,412 . chr12 111351140 . C T 9503.09 . AB=0.47192;ABP=10.5711;AC=1;AF=0.5;AN=2;AO=521;CIGAR=1X;DP=1104;DPB=1104;DPRA=0;EPP=8.71615;EPPR=10.1418;GTI=0;LEN=1;MEANALT=3;MQM=36.3493;MQMR=38.3623;NS=1;NUMALT=1;ODDS=2188.17;PAIRED=0.957774;PAIREDR=0.831261;PAO=0;PQA=0;PQR=0;PRO=0;QA=16103;QR=18303;RO=563;RPL=327;RPP=76.7362;RPPR=129.368;RPR=194;RUN=1;SAF=189;SAP=88.2396;SAR=332;SF=1;SRF=159;SRP=234.525;SRR=404;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750937792;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.298e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.999e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=316035;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0305;dpsi_zscore=-0.167;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.371e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-974.797,0,-1188.4:1104:563:521:16103:18303:563,521 . . . . . . . . . chr12 111351186 . C T 3522.28 . AB=0.459426;ABP=14.4641;AC=14;AF=0.5;AN=28;AO=368;CIGAR=1X;DP=8741;DPB=801;DPRA=0;EPP=18.9659;EPPR=9.12072;GTI=0;LEN=1;MEANALT=3;MQM=32.1467;MQMR=34.2558;NS=1;NUMALT=1;ODDS=1121.26;PAIRED=0.915761;PAIREDR=0.780362;PAO=0;PQA=0;PQR=0;PRO=0;QA=9926;QR=11771;RO=387;RPL=265;RPP=157.869;RPPR=212.016;RPR=103;RUN=1;SAF=123;SAP=90.8369;SAR=245;SF=0;SRF=130;SRP=93.5108;SRR=257;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=0.0640;esp6500siv2_ea=0.0644;esp6500siv2_all=0.0640;esp6500siv2_ea=0.0644;1000g2015aug_all=0.102636;avsnp147=rs2071629;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=136733;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0033;dpsi_zscore=0.006;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0782;gnomAD_genome_AFR=0.0674;gnomAD_genome_AMR=0.0407;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.2447;gnomAD_genome_FIN=0.0630;gnomAD_genome_NFE=0.0727;gnomAD_genome_OTH=0.0787;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-521.246,0,-685.286:801:387:368:9926:11771 . . . . . . 0/1:-330.309,0,-524.715:548:296:232:6588:8917 . 0/1:-329.116,0,-481.961:556:283:246:6480:8325 . 0/1:-312.152,0,-363.866:468:213:231:6148:6479 . 0/1:-333.117,0,-675.958:622:357:251:6728:11036 . . . . . . . . . 0/1:-300.994,0,-381.694:513:243:240:6196:7073 . . 0/1:-466.902,0,-627.057:765:379:345:9076:11195 . 0/1:-380.809,0,-519.331:633:307:290:7622:9210 . . . . . . 0/1:-421.687,0,-612.191:736:382:330:8727:11273 . . . 0/1:-471.845,0,-636.89:707:359:316:8622:11013 . . . . . . . . . . . . . . 0/1:-417.888,0,-467.422:642:303:302:8219:8881 . . . . . . . . . . 0/1:-408.239,0,-572.232:669:332:301:7895:10081 . 0/1:-464.226,0,-624.365:714:357:332:8800:10650 . . . . . . 0/1:-200.835,0,-375.895:367:212:149:4263:6252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 111351963 . G C 103.83 . AB=0.225352;ABP=235.603;AC=1;AF=0.5;AN=2;AO=80;CIGAR=1X;DP=355;DPB=355;DPRA=0;EPP=5.72464;EPPR=5.11597;GTI=0;LEN=1;MEANALT=3;MQM=35.3125;MQMR=34.3712;NS=1;NUMALT=1;ODDS=23.9083;PAIRED=0.8375;PAIREDR=0.859848;PAO=0;PQA=0;PQR=0;PRO=0;QA=1984;QR=7395;RO=264;RPL=2;RPP=159.791;RPPR=106.188;RPR=78;RUN=1;SAF=45;SAP=5.72464;SAR=35;SF=0;SRF=176;SRP=66.7068;SRR=88;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1972;dpsi_zscore=-0.682;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.651e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=9.504e-05;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-59.4279,0,-477.876:355:264:80:1984:7395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 111351973 . CA CAGA 1824.26 . AB=0.27303;ABP=406.169;AC=2;AF=0.5;AN=4;AO=246;CIGAR=1M2I1M;DP=1917;DPB=1168;DPRA=0;EPP=166.277;EPPR=34.8851;GTI=0;LEN=2;MEANALT=16;MQM=37.3821;MQMR=38.3807;NS=1;NUMALT=1;ODDS=521.16;PAIRED=0.97561;PAIREDR=0.951835;PAO=12.5;PQA=7;PQR=7;PRO=12.5;QA=6205;QR=13013;RO=436;RPL=36;RPP=270.26;RPPR=525.837;RPR=210;RUN=1;SAF=177;SAP=105.97;SAR=69;SF=0;SRF=282;SRP=84.6099;SRR=154;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-302.601,0,-873.778:901:436:246:6205:13013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-207.775,0,-964.925:1016:508:230:5261:14665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 111353556 . A G 10662.01 . AB=0.49221;ABP=3.75463;AC=17;AF=0.5;AN=32;AO=695;CIGAR=1X;DP=18255;DPB=1412;DPRA=0;EPP=13.1615;EPPR=6.42261;GTI=0;LEN=1;MEANALT=3;MQM=36.2791;MQMR=37.9654;NS=1;NUMALT=1;ODDS=2866.67;PAIRED=0.929496;PAIREDR=0.920635;PAO=0;PQA=0;PQR=0;PRO=0;QA=20776;QR=21607;RO=693;RPL=285;RPP=51.8294;RPPR=41.6174;RPR=410;RUN=1;SAF=427;SAP=81.9988;SAR=268;SF=0;SRF=434;SRP=98.9718;SRR=259;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYL2:NM_000432:exon3:c.T132C:p.I44I;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=0.0764;esp6500siv2_ea=0.0801;esp6500siv2_all=0.0764;esp6500siv2_ea=0.0801;1000g2015aug_all=0.115216;avsnp147=rs2301610;Kaviar_AF=0.099643;Kaviar_AC=15405;Kaviar_AN=154602;ExAC_ALL=0.1025;ExAC_AFR=0.0716;ExAC_AMR=0.0339;ExAC_EAS=0.2256;ExAC_FIN=0.1178;ExAC_NFE=0.0848;ExAC_OTH=0.1002;ExAC_SAS=0.1711;CLNALLELEID=40431;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1694;dpsi_zscore=0.660;hgmdCODING=HGMD::Cardiomyopathy,_hypertrophic#22429680;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1005;gnomAD_exome_AFR=0.0687;gnomAD_exome_AMR=0.0381;gnomAD_exome_ASJ=0.0353;gnomAD_exome_EAS=0.2365;gnomAD_exome_FIN=0.1174;gnomAD_exome_NFE=0.0873;gnomAD_exome_OTH=0.0840;gnomAD_exome_SAS=0.1675;gnomAD_genome_ALL=0.0931;gnomAD_genome_AFR=0.0700;gnomAD_genome_AMR=0.0513;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.2432;gnomAD_genome_FIN=0.1064;gnomAD_genome_NFE=0.0908;gnomAD_genome_OTH=0.0898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-1267.08,0,-1366.71:1412:693:695:20776:21607 . . . . . . 0/1:-848.762,0,-924.79:949:477:459:13675:14631 . 0/1:-670.83,0,-946.209:853:469:370:11224:14572 . 0/1:-749.23,0,-846.323:893:456:415:12473:14183 . 0/1:-1007.18,0,-1103.03:1105:551:534:16123:17310 . . . . . . . 0/1:-1162.27,0,-1093.12:1215:559:626:18624:17602 . 0/1:-645.087,0,-881.432:876:459:396:11395:14147 . . 0/1:-1135.58,0,-1529.1:1375:737:615:18486:23176 . 0/1:-918.892,0,-1278.91:1191:638:536:15367:19566 . . . . . . 0/1:-1279.47,0,-1267.17:1317:631:658:20127:19745 . . . 0/1:-1173.9,0,-1355.96:1323:671:627:18998:21535 . . . . . . . . . . . . . . 0/1:-1007.97,0,-1137.31:1148:580:547:16307:18102 . . . . . . . . . . 1/1:-2694.48,-306.282,0:1169:15:1126:33274:525 . 0/1:-1071.31,0,-1291.95:1259:644:590:17602:20177 . . . . 0/1:-1194.37,0,-1324.88:1350:665:657:19508:20916 . 0/1:-637.347,0,-847.861:820:429:378:10765:13205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 111357011 . G A 5809.71 . AB=0.483871;ABP=4.69144;AC=1;AF=0.5;AN=2;AO=360;CIGAR=1X;DP=744;DPB=744;DPRA=0;EPP=6.48466;EPPR=4.98658;GTI=0;LEN=1;MEANALT=3;MQM=36.5472;MQMR=38.0815;NS=1;NUMALT=1;ODDS=1337.73;PAIRED=0.963889;PAIREDR=0.963483;PAO=0;PQA=0;PQR=0;PRO=0;QA=10013;QR=10668;RO=356;RPL=246;RPP=108.11;RPPR=122.563;RPR=114;RUN=1;SAF=108;SAP=128.087;SAR=252;SF=0;SRF=105;SRP=133.03;SRR=251;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=0.0459;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0459;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0445288;avsnp147=rs12301951;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=0.0129;ExAC_AFR=0.1387;ExAC_AMR=0.0074;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0060;ExAC_SAS=0.0002;CLNALLELEID=52644;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.6188;dpsi_zscore=1.829;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0096;gnomAD_exome_AFR=0.1345;gnomAD_exome_AMR=0.0076;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0050;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0386;gnomAD_genome_AFR=0.1348;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-612.532,0,-675.902:744:356:360:10013:10668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 111358266 . C T 5641.70 . AB=0.467961;ABP=12.1937;AC=1;AF=0.5;AN=2;AO=482;CIGAR=1X;DP=1030;DPB=1030;DPRA=0;EPP=26.3649;EPPR=19.3999;GTI=0;LEN=1;MEANALT=3;MQM=29.4896;MQMR=33.1602;NS=1;NUMALT=1;ODDS=1299.05;PAIRED=0.856846;PAIREDR=0.876268;PAO=0;PQA=0;PQR=0;PRO=0;QA=12112;QR=14771;RO=493;RPL=210;RPP=20.328;RPPR=26.4825;RPR=272;RUN=1;SAF=271;SAP=19.2288;SAR=211;SF=0;SRF=278;SRP=20.4922;SRR=215;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0116;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0116;1000g2015aug_all=0.0155751;avsnp147=rs76139625;Kaviar_AF=0.0025291;Kaviar_AC=391;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0231;gnomAD_genome_AFR=0.0420;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0332;gnomAD_genome_NFE=0.0145;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-577.804,0,-817.883:1030:493:482:12112:14771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 112856954 . G C 95.26 . AB=0.666667;ABP=5.9056;AC=3;AF=0.5;AN=6;AO=8;CIGAR=1X;DP=69;DPB=12;DPRA=0;EPP=4.09604;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=20.875;MQMR=32;NS=1;NUMALT=1;ODDS=1.24526;PAIRED=0.75;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=270;QR=113;RO=4;RPL=8;RPP=20.3821;RPPR=11.6962;RPR=0;RUN=1;SAF=3;SAP=4.09604;SAR=5;SF=0,1;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0632987;avsnp147=rs7972574;Kaviar_AF=0.0070956;Kaviar_AC=1097;Kaviar_AN=154602;ExAC_ALL=0.0262;ExAC_AFR=0.2099;ExAC_AMR=0.0339;ExAC_EAS=0.0203;ExAC_FIN=0;ExAC_NFE=0.0111;ExAC_OTH=0.0268;ExAC_SAS=0.0197;CLNALLELEID=48948;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0187;gnomAD_exome_AFR=0.1819;gnomAD_exome_AMR=0.0188;gnomAD_exome_ASJ=0.0035;gnomAD_exome_EAS=0.0113;gnomAD_exome_FIN=0.0147;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0262;gnomAD_exome_SAS=0.0214;gnomAD_genome_ALL=0.0547;gnomAD_genome_AFR=0.1507;gnomAD_genome_AMR=0.0232;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0125;gnomAD_genome_NFE=0.0180;gnomAD_genome_OTH=0.0350;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-11.2274,0,-5.51462:12:4:8:270:113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-12.8344,0,-16.3981:20:12:8:253:324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-36.4599,0,-39.458:37:20:17:546:647:20,17 . . chr12 112891203 . G C 3590.47 . AB=0.447368;ABP=13.982;AC=2;AF=0.5;AN=4;AO=204;CIGAR=1X;DP=996;DPB=456;DPRA=0;EPP=36.3914;EPPR=40.4571;GTI=0;LEN=1;MEANALT=2;MQM=37.348;MQMR=39.2776;NS=1;NUMALT=1;ODDS=764.01;PAIRED=0.906863;PAIREDR=0.930612;PAO=0;PQA=0;PQR=0;PRO=0;QA=5812;QR=7502;RO=245;RPL=145;RPP=81.7368;RPPR=52.8655;RPR=59;RUN=1;SAF=95;SAP=5.09662;SAR=109;SF=0,1;SRF=124;SRP=3.09007;SRR=121;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0127;1000g2015aug_all=0.00599042;avsnp147=rs41304351;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;ExAC_ALL=0.0098;ExAC_AFR=0.0019;ExAC_AMR=0.0116;ExAC_EAS=0.0003;ExAC_FIN=0.0026;ExAC_NFE=0.0145;ExAC_OTH=0.0099;ExAC_SAS=0.0019;CLNALLELEID=48986;CLNDN=Noonan_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2031;dpsi_zscore=0.728;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0099;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0134;gnomAD_exome_ASJ=0.0060;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0128;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0090;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-351.456,0,-499.495:456:245:204:5812:7502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-510.053,0,-598.337:540:278:252:7868:8826:278,252 . . . . . . chr12 112910815 . A C 9588.64 . AB=0.512315;ABP=4.34741;AC=1;AF=0.5;AN=2;AO=520;CIGAR=1X;DP=1015;DPB=1015;DPRA=0;EPP=4.07933;EPPR=4.29892;GTI=0;LEN=1;MEANALT=3;MQM=38.2962;MQMR=39.6263;NS=1;NUMALT=1;ODDS=2201.52;PAIRED=0.963462;PAIREDR=0.985626;PAO=0;PQA=0;PQR=0;PRO=0;QA=15062;QR=15109;RO=487;RPL=277;RPP=7.83765;RPPR=26.7716;RPR=243;RUN=1;SAF=201;SAP=61.1556;SAR=319;SF=0;SRF=160;SRP=127.364;SRR=327;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PTPN11:NM_002834:exon7:c.A824C:p.N275T,PTPN11:NM_080601:exon7:c.A824C:p.N275T;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397507528;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=2.519e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.048e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.438;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.94;MutationAssessor_pred=L;FATHMM_score=-1.65;FATHMM_pred=D;PROVEAN_score=-0.07;PROVEAN_pred=N;VEST3_score=0.399;CADD_raw=1.802;CADD_phred=15.00;DANN_score=0.980;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.545;MetaSVM_pred=T;MetaLR_score=0.368;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.243;GDI_full_10282015=.;dpsi_max_tissue=0.3190;dpsi_zscore=0.918;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.144e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.986e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.509e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.259e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-973.51,0,-979.442:1015:487:520:15062:15109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 112915434 . C T 6746.01 . AB=0.541772;ABP=14.9836;AC=13;AF=0.5;AN=26;AO=428;CIGAR=1X;DP=9063;DPB=790;DPRA=0;EPP=55.7953;EPPR=69.4574;GTI=0;LEN=1;MEANALT=3;MQM=38.7874;MQMR=39.1147;NS=1;NUMALT=1;ODDS=1420.75;PAIRED=0.953271;PAIREDR=0.973529;PAO=0;PQA=0;PQR=0;PRO=0;QA=13022;QR=10201;RO=340;RPL=186;RPP=18.9209;RPPR=3.03585;RPR=242;RUN=1;SAF=215;SAP=3.03059;SAR=213;SF=0,1;SRF=160;SRP=5.56497;SRR=180;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=0.0570;esp6500siv2_ea=0.0741;esp6500siv2_all=0.0570;esp6500siv2_ea=0.0741;1000g2015aug_all=0.0365415;avsnp147=rs41279090;Kaviar_AF=0.0604003;Kaviar_AC=9338;Kaviar_AN=154602;ExAC_ALL=0.0592;ExAC_AFR=0.0226;ExAC_AMR=0.0481;ExAC_EAS=0.0001;ExAC_FIN=0.0375;ExAC_NFE=0.0790;ExAC_OTH=0.0706;ExAC_SAS=0.0488;CLNALLELEID=49002;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0737;dpsi_zscore=-0.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0581;gnomAD_exome_AFR=0.0211;gnomAD_exome_AMR=0.0473;gnomAD_exome_ASJ=0.0595;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0339;gnomAD_exome_NFE=0.0820;gnomAD_exome_OTH=0.0661;gnomAD_exome_SAS=0.0497;gnomAD_genome_ALL=0.0525;gnomAD_genome_AFR=0.0203;gnomAD_genome_AMR=0.0514;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0350;gnomAD_genome_NFE=0.0795;gnomAD_genome_OTH=0.0746;Whole_Blood=Whole_Blood::0.0650406::0.304822;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-871.298,0,-633.832:790:340:428:13022:10201 . . . . . . 0/1:-596.315,0,-489.596:580:259:296:8945:7746 . . . . 0/1:-1278.48,0,-1333.08:1359:670:657:19844:20269 . 0/1:-428.898,0,-455.757:480:234:226:6730:6908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-662.98,0,-546.746:621:289:325:9946:8559 . . . . . 0/1:-685.655,0,-638.728:711:335:358:10681:9925 . . 0/1:-470.818,0,-602.632:556:298:239:7459:9025 0/1:-554.071,0,-787.751:670:374:287:8861:11465 . . . . . . . . . . . 0/1:-789.586,0,-743.774:813:390:405:12180:11504 . . . . . . . . . . . . . . . 0/1:-642.178,0,-788.2:689:372:311:9806:11539:372,311 . . 0/1:-478.635,0,-593.089:545:287:244:7498:8729:287,244 . . . . . . 0/1:-677.289,0,-550.012:583:267:312:9851:8336:267,312 . 0/1:-680.441,0,-687.651:666:329:328:10358:10171:329,328 . . . . . . chr12 112915480 . C T 7695.83 . AB=0.43501;ABP=38.0088;AC=1;AF=0.5;AN=2;AO=415;CIGAR=1X;DP=954;DPB=954;DPRA=0;EPP=69.8236;EPPR=187.151;GTI=0;LEN=1;MEANALT=3;MQM=38.8024;MQMR=39.734;NS=1;NUMALT=1;ODDS=1772.03;PAIRED=0.978313;PAIREDR=0.981132;PAO=0;PQA=0;PQR=0;PRO=0;QA=12875;QR=16693;RO=530;RPL=136;RPP=110.009;RPPR=110.535;RPR=279;RUN=1;SAF=244;SAP=30.8941;SAR=171;SF=0;SRF=307;SRP=31.9196;SRR=223;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PTPN11:NM_002834:exon8:c.C879T:p.H293H,PTPN11:NM_080601:exon8:c.C879T:p.H293H;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs117730996;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=7.414e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.492e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=49004;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0651;dpsi_zscore=0.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.093e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=4.478e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-800.875,0,-1136.55:954:530:415:12875:16693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 112919869 . C A 6654.98 . AB=0.508571;ABP=3.34533;AC=3;AF=0.5;AN=6;AO=267;CIGAR=1X;DP=2066;DPB=525;DPRA=0;EPP=96.1234;EPPR=73.5278;GTI=0;LEN=1;MEANALT=3;MQM=38.9139;MQMR=38.3882;NS=1;NUMALT=1;ODDS=1070.83;PAIRED=0.973783;PAIREDR=0.992157;PAO=0;PQA=0;PQR=0;PRO=0;QA=7779;QR=7664;RO=255;RPL=132;RPP=3.0835;RPPR=4.04068;RPR=135;RUN=1;SAF=112;SAP=18.0479;SAR=155;SF=0,1;SRF=105;SRP=20.2543;SRR=150;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=0.0461;esp6500siv2_ea=0.0107;esp6500siv2_all=0.0461;esp6500siv2_ea=0.0107;1000g2015aug_all=0.0429313;avsnp147=rs12301915;Kaviar_AF=0.0195793;Kaviar_AC=3027;Kaviar_AN=154602;ExAC_ALL=0.0198;ExAC_AFR=0.1175;ExAC_AMR=0.0128;ExAC_EAS=0.0082;ExAC_FIN=0.0141;ExAC_NFE=0.0105;ExAC_OTH=0.0143;ExAC_SAS=0.0097;CLNALLELEID=49012;CLNDN=Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C0175704,Orphanet:ORPHA500|MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7371;dpsi_zscore=-1.299;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0178;gnomAD_exome_AFR=0.1172;gnomAD_exome_AMR=0.0138;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0.0096;gnomAD_exome_FIN=0.0133;gnomAD_exome_NFE=0.0109;gnomAD_exome_OTH=0.0208;gnomAD_exome_SAS=0.0096;gnomAD_genome_ALL=0.0424;gnomAD_genome_AFR=0.1099;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0127;gnomAD_genome_NFE=0.0166;gnomAD_genome_OTH=0.0289;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-507.712,0,-481.487:525:255:267:7779:7664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-885.016,0,-841.673:887:421:463:13519:12967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-638.259,0,-738.617:654:338:313:9782:10757:338,313 . . chr12 112924312 . T C 13104.80 . AB=0.471399;ABP=13.3199;AC=1;AF=0.5;AN=2;AO=684;CIGAR=1X;DP=1451;DPB=1451;DPRA=0;EPP=19.4678;EPPR=39.1165;GTI=0;LEN=1;MEANALT=3;MQM=37.5278;MQMR=38.0769;NS=1;NUMALT=1;ODDS=3017.49;PAIRED=0.960526;PAIREDR=0.960864;PAO=0;PQA=0;PQR=0;PRO=0;QA=21366;QR=23028;RO=741;RPL=298;RPP=27.5949;RPPR=47.3453;RPR=386;RUN=1;SAF=332;SAP=4.28017;SAR=352;SF=1;SRF=382;SRP=4.56051;SRR=359;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=PTPN11:NM_002834:exon11:c.T1258C:p.F420L,PTPN11:NM_080601:exon11:c.T1258C:p.F420L\x3bPTPN11:NM_002834:exon11:c.T1258C:p.F420L,PTPN11:NM_080601:exon11:c.T1258C:p.F420L;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.87;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.99;MutationAssessor_pred=M;FATHMM_score=-5.83;FATHMM_pred=D;PROVEAN_score=-4.73;PROVEAN_pred=D;VEST3_score=0.519;CADD_raw=6.219;CADD_phred=28.8;DANN_score=0.998;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=1.079;MetaSVM_pred=D;MetaLR_score=0.979;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.03;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.724;GDI_full_10282015=.;dpsi_max_tissue=0.0598;dpsi_zscore=0.341;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=PTPN11:NM_002834:exon11:c.T1258C:p.F420L,PTPN11:NM_080601:exon11:c.T1258C:p.F420L\x3bPTPN11:NM_002834:exon11:c.T1258C:p.F420L,PTPN11:NM_080601:exon11:c.T1258C:p.F420L;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.87;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.99;MutationAssessor_pred=M;FATHMM_score=-5.83;FATHMM_pred=D;PROVEAN_score=-4.73;PROVEAN_pred=D;VEST3_score=0.519;CADD_raw=6.219;CADD_phred=28.8;DANN_score=0.998;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=1.079;MetaSVM_pred=D;MetaLR_score=0.979;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.03;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.724;GDI_full_10282015=.;dpsi_max_tissue=0.0598;dpsi_zscore=0.341;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1323.43,0,-1471.85:1451:741:684:21366:23028:741,684 . . . . . . . . . . . . . chr12 114823243 . A G 1959.10 . AB=0.505618;ABP=3.0835;AC=1;AF=0.5;AN=2;AO=135;CIGAR=1X;DP=267;DPB=267;DPRA=0;EPP=48.193;EPPR=48.1769;GTI=0;LEN=1;MEANALT=3;MQM=36.6444;MQMR=36.4615;NS=1;NUMALT=1;ODDS=431.153;PAIRED=0.955556;PAIREDR=0.984615;PAO=0;PQA=0;PQR=0;PRO=0;QA=3901;QR=3835;RO=130;RPL=22;RPP=136.21;RPPR=89.6019;RPR=113;RUN=1;SAF=116;SAP=154.354;SAR=19;SF=0;SRF=118;SRP=190.692;SRR=12;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.21;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs376997698;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0004;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0334;dpsi_zscore=0.216;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=5.958e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-238.444,0,-229.26:267:130:135:3901:3835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 114823318 . C G 1438.66 . AB=0.377953;ABP=35.8731;AC=1;AF=0.5;AN=2;AO=96;CIGAR=1X;DP=254;DPB=254;DPRA=0;EPP=6.26751;EPPR=4.72761;GTI=0;LEN=1;MEANALT=3;MQM=36.3125;MQMR=36.6013;NS=1;NUMALT=1;ODDS=331.263;PAIRED=0.9375;PAIREDR=0.928105;PAO=0;PQA=0;PQR=0;PRO=0;QA=2891;QR=4559;RO=153;RPL=27;RPP=42.9111;RPPR=29.2525;RPR=69;RUN=1;SAF=59;SAP=13.9581;SAR=37;SF=0;SRF=102;SRP=39.9253;SRR=51;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX5:NM_080717:exon6:c.G568C:p.D190H,TBX5:NM_000192:exon7:c.G718C:p.D240H,TBX5:NM_181486:exon7:c.G718C:p.D240H;cytoBand=12q24.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.39;MutationAssessor_pred=M;FATHMM_score=-2.32;FATHMM_pred=D;PROVEAN_score=-2.21;PROVEAN_pred=N;VEST3_score=0.84;CADD_raw=6.571;CADD_phred=31;DANN_score=0.996;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=0.801;MetaSVM_pred=D;MetaLR_score=0.824;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=18.888;GDI_full_10282015=.;dpsi_max_tissue=0.0384;dpsi_zscore=0.242;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-158.779,0,-297.205:254:153:96:2891:4559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr12 114836450 . C G 12947.00 . AB=0.507213;ABP=3.60552;AC=1;AF=0.5;AN=2;AO=668;CIGAR=1X;DP=1317;DPB=1317;DPRA=0;EPP=352.734;EPPR=233.128;GTI=0;LEN=1;MEANALT=3;MQM=39.4476;MQMR=39.9084;NS=1;NUMALT=1;ODDS=2772.62;PAIRED=0.961078;PAIREDR=0.963665;PAO=0;PQA=0;PQR=0;PRO=0;QA=20235;QR=19008;RO=633;RPL=330;RPP=3.21835;RPPR=22.3066;RPR=338;RUN=1;SAF=350;SAP=6.33902;SAR=318;SF=1;SRF=300;SRP=6.74606;SRR=333;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX5:NM_080717:exon4:c.G288C:p.A96A,TBX5:NM_000192:exon5:c.G438C:p.A146A,TBX5:NM_181486:exon5:c.G438C:p.A146A;cytoBand=12q24.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs776523515;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.767e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.489e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0960;dpsi_zscore=-0.436;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.87e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.32e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1338.6,0,-1237.13:1317:633:668:20235:19008:633,668 . . . . . . . . chr14 23851325 . G A 1692.93 . AB=0.454301;ABP=9.75821;AC=1;AF=0.5;AN=2;AO=169;CIGAR=1X;DP=372;DPB=372;DPRA=0;EPP=20.6005;EPPR=9.59329;GTI=0;LEN=1;MEANALT=3;MQM=29.3432;MQMR=31.4947;NS=1;NUMALT=1;ODDS=389.811;PAIRED=0.852071;PAIREDR=0.973684;PAO=0;PQA=0;PQR=0;PRO=0;QA=4303;QR=5528;RO=190;RPL=137;RPP=144.67;RPPR=162.145;RPR=32;RUN=1;SAF=42;SAP=95.844;SAR=127;SF=0;SRF=51;SRP=91.5149;SRR=139;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0460;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0460;esp6500siv2_ea=0.0041;1000g2015aug_all=0.0485224;avsnp147=rs28488316;Kaviar_AF=0.0029948;Kaviar_AC=463;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0368;gnomAD_genome_AFR=0.1195;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0123;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-203.145,0,-306.329:372:190:169:4303:5528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23852497 . T C 1285.16 . AB=0.460251;ABP=6.29022;AC=1;AF=0.5;AN=2;AO=110;CIGAR=1X;DP=239;DPB=239;DPRA=0;EPP=3.32615;EPPR=14.4151;GTI=0;LEN=1;MEANALT=3;MQM=30.9091;MQMR=32.1681;NS=1;NUMALT=1;ODDS=295.92;PAIRED=0.690909;PAIREDR=0.672269;PAO=0;PQA=0;PQR=0;PRO=0;QA=3076;QR=3706;RO=119;RPL=104;RPP=192.6;RPPR=219.811;RPR=6;RUN=1;SAF=59;SAP=4.2737;SAR=51;SF=0;SRF=52;SRP=7.11603;SRR=67;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon37:c.A5598G:p.L1866L;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0841;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0841;esp6500siv2_ea=0.0069;1000g2015aug_all=0.0848642;avsnp147=rs17091278;Kaviar_AF=0.0258276;Kaviar_AC=3993;Kaviar_AN=154602;ExAC_ALL=0.0267;ExAC_AFR=0.2450;ExAC_AMR=0.0154;ExAC_EAS=0.0175;ExAC_FIN=0.0005;ExAC_NFE=0.0035;ExAC_OTH=0.0044;ExAC_SAS=0.0073;CLNALLELEID=254914;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1715;dpsi_zscore=-0.628;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0220;gnomAD_exome_AFR=0.2505;gnomAD_exome_AMR=0.0160;gnomAD_exome_ASJ=0.0020;gnomAD_exome_EAS=0.0164;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0041;gnomAD_exome_OTH=0.0152;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0701;gnomAD_genome_AFR=0.2383;gnomAD_genome_AMR=0.0169;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0125;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0046;gnomAD_genome_OTH=0.0145;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-158.05,0,-208.569:239:119:110:3076:3706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23853702 . C T 2649.05 . AB=0.426009;ABP=45.427;AC=1;AF=0.5;AN=2;AO=380;CIGAR=1X;DP=892;DPB=892;DPRA=0;EPP=3.37602;EPPR=12.8283;GTI=0;LEN=1;MEANALT=3;MQM=22.3816;MQMR=23.4615;NS=1;NUMALT=1;ODDS=609.967;PAIRED=0.955263;PAIREDR=0.961538;PAO=0;PQA=0;PQR=0;PRO=0;QA=10678;QR=13631;RO=468;RPL=135;RPP=72.1546;RPPR=107.408;RPR=245;RUN=1;SAF=281;SAP=192.294;SAR=99;SF=0;SRF=292;SRP=65.4448;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon36:c.G5514A:p.S1838S;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1338;dpsi_zscore=-0.543;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.07e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.954e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-301.32,0,-515.812:892:468:380:10678:13631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23854155 . G A 8901.71 . AB=0.455115;ABP=19.7746;AC=18;AF=0.5;AN=36;AO=436;CIGAR=1X;DP=23152;DPB=958;DPRA=0;EPP=31.7773;EPPR=33.9819;GTI=0;LEN=1;MEANALT=3;MQM=33.695;MQMR=35.294;NS=1;NUMALT=1;ODDS=1386.31;PAIRED=0.926606;PAIREDR=0.900621;PAO=0;PQA=0;PQR=0;PRO=0;QA=11427;QR=14239;RO=483;RPL=231;RPP=6.37708;RPPR=6.28774;RPR=205;RUN=1;SAF=221;SAP=3.1896;SAR=215;SF=0,1;SRF=269;SRP=16.6101;SRR=214;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon35:c.C5259T:p.A1753A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0873;esp6500siv2_ea=0.1158;esp6500siv2_all=0.0873;esp6500siv2_ea=0.1158;1000g2015aug_all=0.0363419;avsnp147=rs8004990;Kaviar_AF=0.0772823;Kaviar_AC=11948;Kaviar_AN=154602;ExAC_ALL=0.0749;ExAC_AFR=0.0320;ExAC_AMR=0.0321;ExAC_EAS=0;ExAC_FIN=0.0871;ExAC_NFE=0.1066;ExAC_OTH=0.0859;ExAC_SAS=0.0372;CLNALLELEID=53699;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1333;dpsi_zscore=-0.542;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0757;gnomAD_exome_AFR=0.0298;gnomAD_exome_AMR=0.0352;gnomAD_exome_ASJ=0.1305;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0854;gnomAD_exome_NFE=0.1089;gnomAD_exome_OTH=0.0813;gnomAD_exome_SAS=0.0389;gnomAD_genome_ALL=0.0781;gnomAD_genome_AFR=0.0301;gnomAD_genome_AMR=0.0430;gnomAD_genome_ASJ=0.1722;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0899;gnomAD_genome_NFE=0.1111;gnomAD_genome_OTH=0.0878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-612.962,0,-863.193:958:483:436:11427:14239 . . . . . . . 0/1:-678.269,0,-997.524:1117:574:495:12965:16872 . . . . 0/1:-691.755,0,-866.372:1063:527:488:12700:15394 . . . . . . . . . . . . . . . . . . . . 0/1:-977.328,0,-1279.27:1451:724:663:17587:21482 . . . . 0/1:-612.002,0,-876.894:969:491:433:11318:14501 . . . . . . 0/1:-893.701,0,-1174.17:1380:677:644:16784:19923 . 0/1:-789.496,0,-891.066:1117:537:525:14188:15595 . . . . . . . 0/1:-960.397,0,-1271.58:1459:720:683:17272:21115 0/1:-483.674,0,-650.799:813:399:365:9174:11524 0/1:-547.545,0,-819.509:897:474:385:10190:14042 . . 0/1:-1112.7,0,-1470.8:1677:830:770:20527:24550 . . . . . 0/1:-871.157,0,-1192.89:1311:668:590:15736:19552 . . . . 0/1:-1065.28,0,-1254.34:1482:722:692:18798:21319 . . . . . . . . . . . . . . 0/1:-783.511,0,-1232.32:1349:707:577:15118:20636 . . . . . 0/1:-984.966,0,-1226.37:1427:694:677:17990:20851 . . 0/1:-1397.73,0,-1518.99:1514:751:735:21918:23233:751,735 . . . . . . 0/1:-1351.92,0,-1634.2:1544:781:724:21700:24369:781,724 . . 0/1:-1424.67,0,-1650.7:1624:820:765:22839:24969:820,765 . . . . . . . . . chr14 23854272 . T C 5809.30 . AB=0.420543;ABP=31.3068;AC=21;AF=0.5;AN=42;AO=217;CIGAR=1X;DP=17183;DPB=516;DPRA=0;EPP=12.6268;EPPR=3.0411;GTI=0;LEN=1;MEANALT=3;MQM=35.2765;MQMR=35.234;NS=1;NUMALT=1;ODDS=752.408;PAIRED=0.97235;PAIREDR=0.950355;PAO=0;PQA=0;PQR=0;PRO=0;QA=6325;QR=8560;RO=282;RPL=176;RPP=185.384;RPPR=129.171;RPR=41;RUN=1;SAF=82;SAP=31.1194;SAR=135;SF=0,1;SRF=125;SRP=10.8954;SRR=157;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0770;esp6500siv2_ea=0.0844;esp6500siv2_all=0.0770;esp6500siv2_ea=0.0844;1000g2015aug_all=0.072484;avsnp147=rs178637;Kaviar_AF=0.0795915;Kaviar_AC=12305;Kaviar_AN=154602;ExAC_ALL=0.0816;ExAC_AFR=0.0608;ExAC_AMR=0.0283;ExAC_EAS=0.0667;ExAC_FIN=0.1682;ExAC_NFE=0.0877;ExAC_OTH=0.0796;ExAC_SAS=0.0803;CLNALLELEID=254916;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0939;dpsi_zscore=0.465;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0797;gnomAD_exome_AFR=0.0634;gnomAD_exome_AMR=0.0298;gnomAD_exome_ASJ=0.0707;gnomAD_exome_EAS=0.0632;gnomAD_exome_FIN=0.1658;gnomAD_exome_NFE=0.0831;gnomAD_exome_OTH=0.0698;gnomAD_exome_SAS=0.0811;gnomAD_genome_ALL=0.0813;gnomAD_genome_AFR=0.0614;gnomAD_genome_AMR=0.0394;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0575;gnomAD_genome_FIN=0.1645;gnomAD_genome_NFE=0.0785;gnomAD_genome_OTH=0.0937;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-359.182,0,-523.521:516:282:217:6325:8560 . . . 0/1:-635.194,0,-959.057:935:496:407:11471:15377 0/1:-496.551,0,-669.75:672:356:303:8922:10859 . . 0/1:-541.185,0,-789.874:754:392:331:9575:12570 . . . . . 0/1:-1143.42,0,-1604.13:1544:794:696:20252:24832 . . . . . . . . . . 0/1:-456.934,0,-594.719:634:321:295:8298:9847 . . 0/1:-675.457,0,-989.098:960:509:419:12246:15882 . . . . . 0/1:-651.007,0,-856.555:847:436:380:11257:13490 . . . . . . . . . 0/1:-419.799,0,-389.659:466:207:239:6970:6438 . . . . . 0/1:-674.498,0,-915.498:894:465:398:11409:14279 . . . . 0/1:-478.904,0,-528.104:593:288:284:8105:8596 0/1:-594.337,0,-769.768:810:409:371:10820:12706 . . 0/1:-597.676,0,-638.592:728:341:362:10297:10547 . . . 0/1:-365.599,0,-527.952:536:274:235:6733:8421 . . 0/1:-509.828,0,-745.568:731:386:319:9083:11764 . . . . . . . . . . . . . 0/1:-599.511,0,-860.602:826:443:366:10902:13832 . . . . . . . . . . . . . . 0/1:-923.428,0,-1208.05:1023:550:461:14524:17686:550,461 . . . . . . 0/1:-827.96,0,-897.591:875:430:429:13072:13611:430,429 . . . . 0/1:-791.813,0,-1195.98:999:547:425:13014:17650:547,425 0/1:-849.55,0,-995.767:940:470:450:13669:14875:470,450 . . . 0/1:-889.79,0,-948.877:900:443:448:14020:14418:443,448 chr14 23855314 . C T 5596.32 . AB=0.472812;ABP=12.6926;AC=1;AF=0.5;AN=2;AO=713;CIGAR=1X;DP=1508;DPB=1508;DPRA=0;EPP=3.01335;EPPR=20.0981;GTI=0;LEN=1;MEANALT=3;MQM=19.6073;MQMR=21.7602;NS=1;NUMALT=1;ODDS=1288.6;PAIRED=0.945302;PAIREDR=0.946866;PAO=0;PQA=0;PQR=0;PRO=0;QA=19755;QR=21917;RO=734;RPL=413;RPP=41.8988;RPPR=48.4988;RPR=300;RUN=1;SAF=276;SAP=81.9538;SAR=437;SF=0;SRF=304;SRP=49.978;SRR=430;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon34:c.G4986A:p.A1662A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00339457;avsnp147=rs77416370;Kaviar_AF=0.0012613;Kaviar_AC=195;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=9.617e-05;ExAC_AMR=0.0027;ExAC_EAS=0.0118;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0022;ExAC_SAS=0.0006;CLNALLELEID=53696;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2322;dpsi_zscore=-0.746;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0133;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0136;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-579.803,0,-776.019:1508:734:713:19755:21917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23855320 . G A 5115.80 . AB=0.433367;ABP=40.9194;AC=18;AF=0.5;AN=36;AO=426;CIGAR=1X;DP=22096;DPB=983;DPRA=0;EPP=3.33653;EPPR=19.9843;GTI=0;LEN=1;MEANALT=3;MQM=19.5164;MQMR=21.042;NS=1;NUMALT=1;ODDS=738.941;PAIRED=0.953052;PAIREDR=0.958015;PAO=0;PQA=0;PQR=0;PRO=0;QA=11570;QR=16643;RO=524;RPL=233;RPP=11.1661;RPPR=60.7118;RPR=193;RUN=1;SAF=170;SAP=40.7103;SAR=256;SF=0,1;SRF=215;SRP=39.627;SRR=309;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon34:c.C4980T:p.D1660D;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0877;esp6500siv2_ea=0.1159;esp6500siv2_all=0.0877;esp6500siv2_ea=0.1159;1000g2015aug_all=0.0365415;avsnp147=rs382872;Kaviar_AF=0.0777868;Kaviar_AC=12026;Kaviar_AN=154602;ExAC_ALL=0.0750;ExAC_AFR=0.0324;ExAC_AMR=0.0327;ExAC_EAS=0;ExAC_FIN=0.0876;ExAC_NFE=0.1067;ExAC_OTH=0.0859;ExAC_SAS=0.0373;CLNALLELEID=53695;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9649;dpsi_zscore=-1.451;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0758;gnomAD_exome_AFR=0.0302;gnomAD_exome_AMR=0.0356;gnomAD_exome_ASJ=0.1304;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0855;gnomAD_exome_NFE=0.1090;gnomAD_exome_OTH=0.0815;gnomAD_exome_SAS=0.0389;gnomAD_genome_ALL=0.0782;gnomAD_genome_AFR=0.0306;gnomAD_genome_AMR=0.0442;gnomAD_genome_ASJ=0.1722;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0897;gnomAD_genome_NFE=0.1111;gnomAD_genome_OTH=0.0878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-334.876,0,-592.468:983:524:426:11570:16643 . . . . . . . 0/1:-484.794,0,-788.2:1167:611:520:14568:19346 . . . . 0/1:-381.374,0,-534.209:1001:491:474:13141:15145 . . . . . . . . . . . . . . . . . . . . 0/1:-472.573,0,-734.78:1220:627:550:15424:19960 . . . . 0/1:-312.571,0,-583.059:906:498:380:10525:15696 . . . . . . 0/1:-516.663,0,-706.44:1244:605:593:16662:18963 . 0/1:-437.928,0,-580.172:1011:516:471:13561:16040 . . . . . . . 0/1:-554.932,0,-828.423:1313:697:579:16650:21649 0/1:-317.27,0,-351.551:726:350:343:9338:10635 0/1:-300.232,0,-597.323:872:479:360:9836:14984 . . 0/1:-695.04,0,-938.646:1620:838:736:20909:25524 . . . . . 0/1:-500.685,0,-709.262:1188:587:545:14951:18247 . . . . 0/1:-486.65,0,-946.298:1456:790:616:16818:24455 . . . . . . . . . . . . . . 0/1:-492.167,0,-811.693:1316:691:579:15674:21543 . . . . . 0/1:-544.425,0,-831.728:1337:688:601:16174:21516 . . 0/1:-903.394,0,-1074.36:1462:732:702:21952:23651:732,702 . . . . . . 0/1:-912.934,0,-1199.13:1646:834:780:23803:26778:834,780 . . 0/1:-863.851,0,-1235.8:1628:854:755:23148:27392:854,755 . . . . . . . . . chr14 23855349 . C T 3134.39 . AB=0.484286;ABP=4.51172;AC=1;AF=0.5;AN=2;AO=339;CIGAR=1X;DP=700;DPB=700;DPRA=0;EPP=3.06795;EPPR=8.42932;GTI=0;LEN=1;MEANALT=3;MQM=21.7198;MQMR=21.6944;NS=1;NUMALT=1;ODDS=721.72;PAIRED=0.955752;PAIREDR=0.961424;PAO=0;PQA=0;PQR=0;PRO=0;QA=9264;QR=10104;RO=337;RPL=223;RPP=76.3471;RPPR=149.929;RPR=116;RUN=1;SAF=141;SAP=23.8218;SAR=198;SF=0;SRF=129;SRP=43.2244;SRR=208;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00179712;avsnp147=rs557113705;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=0;ExAC_AMR=8.672e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.503e-05;ExAC_OTH=0.0011;ExAC_SAS=0.0118;CLNALLELEID=175411;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1391;dpsi_zscore=-0.555;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.968e-06;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0118;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-330.572,0,-357.816:700:337:339:9264:10104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23855357 . T A 1964.81 . AB=0.47678;ABP=6.03557;AC=1;AF=0.5;AN=2;AO=308;CIGAR=1X;DP=646;DPB=646;DPRA=0;EPP=3.0385;EPPR=13.6756;GTI=0;LEN=1;MEANALT=3;MQM=17.7273;MQMR=20.9898;NS=1;NUMALT=1;ODDS=452.414;PAIRED=0.951299;PAIREDR=0.955782;PAO=0;PQA=0;PQR=0;PRO=0;QA=7823;QR=7864;RO=294;RPL=197;RPP=55.1538;RPPR=92.3804;RPR=111;RUN=1;SAF=112;SAP=52.7568;SAR=196;SF=0;SRF=114;SRP=35.1835;SRR=180;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0447;esp6500siv2_ea=0.0059;esp6500siv2_all=0.0447;esp6500siv2_ea=0.0059;1000g2015aug_all=0.0489217;avsnp147=rs28730764;Kaviar_AF=0.0153426;Kaviar_AC=2372;Kaviar_AN=154602;ExAC_ALL=0.0158;ExAC_AFR=0.1267;ExAC_AMR=0.0092;ExAC_EAS=0.0175;ExAC_FIN=0.0005;ExAC_NFE=0.0033;ExAC_OTH=0.0022;ExAC_SAS=0.0070;CLNALLELEID=45294;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2444;dpsi_zscore=-0.766;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0132;gnomAD_exome_AFR=0.1273;gnomAD_exome_AMR=0.0095;gnomAD_exome_ASJ=0.0018;gnomAD_exome_EAS=0.0164;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0113;gnomAD_exome_SAS=0.0063;gnomAD_genome_ALL=0.0359;gnomAD_genome_AFR=0.1157;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0125;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-214.359,0,-251.303:646:294:308:7823:7864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23855569 . A G 7270.46 . AB=0.523865;ABP=7.25971;AC=114;AF=0.5;AN=172;AO=450;CIGAR=1X;DP=85054;DPB=859;DPRA=0;EPP=13.221;EPPR=12.2506;GTI=0;LEN=1;MEANALT=3;MQM=20.6622;MQMR=22.4441;NS=1;NUMALT=1;ODDS=709.737;PAIRED=0.911111;PAIREDR=0.925532;PAO=0;PQA=0;PQR=0;PRO=0;QA=13251;QR=10303;RO=376;RPL=199;RPP=16.0584;RPPR=60.7622;RPR=251;RUN=1;SAF=277;SAP=55.2028;SAR=173;SF=0,1;SRF=234;SRP=51.8915;SRR=142;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4914C:p.A1638A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.5532;esp6500siv2_ea=0.4855;esp6500siv2_all=0.5532;esp6500siv2_ea=0.4855;1000g2015aug_all=0.492812;avsnp147=rs178640;Kaviar_AF=0.433811;Kaviar_AC=67068;Kaviar_AN=154602;ExAC_ALL=0.4649;ExAC_AFR=0.7073;ExAC_AMR=0.2632;ExAC_EAS=0.2608;ExAC_FIN=0.4705;ExAC_NFE=0.4821;ExAC_OTH=0.4426;ExAC_SAS=0.4899;CLNALLELEID=53693;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0452;dpsi_zscore=0.276;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4527;gnomAD_exome_AFR=0.7131;gnomAD_exome_AMR=0.2738;gnomAD_exome_ASJ=0.5493;gnomAD_exome_EAS=0.2596;gnomAD_exome_FIN=0.4703;gnomAD_exome_NFE=0.4772;gnomAD_exome_OTH=0.4670;gnomAD_exome_SAS=0.4917;gnomAD_genome_ALL=0.5120;gnomAD_genome_AFR=0.6970;gnomAD_genome_AMR=0.3501;gnomAD_genome_ASJ=0.5497;gnomAD_genome_EAS=0.2512;gnomAD_genome_FIN=0.4728;gnomAD_genome_NFE=0.4524;gnomAD_genome_OTH=0.4693;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-408.557,0,-328.368:859:376:450:13251:10303 1/1:-1578.94,-311.115,0:1092:8:1072:31220:226 . 1/1:-741.308,-155.328,0:531:2:519:15169:28 1/1:-1321.15,-267.984,0:997:17:968:28176:434 . 0/1:-380.65,0,-385.086:857:371:442:12843:10487 1/1:-1648.58,-325.933,0:1157:10:1126:32041:231 1/1:-1161.43,-221.956,0:865:16:836:24097:498 0/1:-521.526,0,-425.414:1061:475:549:15756:13497 0/1:-289.618,0,-412.515:853:419:400:11619:12124 1/1:-1297.58,-251.615,0:886:6:867:24597:168 1/1:-1188.07,-242.745,0:826:3:815:23430:77 0/1:-265.898,0,-373.342:733:361:336:9544:9948 . . . 0/1:-678.953,0,-978.899:1974:974:942:27005:27394 . 0/1:-232.363,0,-321.324:671:335:310:8767:9260 0/1:-326.497,0,-278.469:709:301:372:10490:8521 . . 0/1:-525.7,0,-578.868:1226:582:591:16910:16592 1/1:-1312.99,-281.181,0:983:9:958:27658:243 0/1:-350.644,0,-270.07:729:307:390:11144:8340 . 1/1:-1124.79,-217.865,0:835:18:801:23293:464 1/1:-1031.41,-215.088,0:759:6:736:20921:164 0/1:-343.26,0,-388.338:803:382:397:11257:10777 . 1/1:-1579.81,-330.244,0:1167:9:1138:33073:249 . 0/1:-386.514,0,-562.101:1074:537:490:13768:15176 0/1:-316.81,0,-629.026:1008:542:424:12069:15703 . 0/1:-488.639,0,-678.335:1283:629:612:17418:18030 0/1:-397.717,0,-431.926:986:444:513:14618:12578 0/1:-359.935,0,-498.178:1003:501:459:12872:14192 1/1:-1043.5,-218.899,0:748:1:727:20480:14 . 0/1:-459.844,0,-402.416:934:423:484:13732:11634 . 0/1:-447.913,0,-378.322:936:406:490:14098:11354 0/1:-534.592,0,-586.666:1269:585:642:17937:16631 0/1:-382.092,0,-439.788:945:436:475:13330:12076 0/1:-413.817,0,-528.684:1069:514:515:14574:14786 0/1:-237.391,0,-288.66:565:280:268:7568:7954 1/1:-981.42,-199.918,0:704:7:684:19911:177 0/1:-430.375,0,-578.419:1097:556:510:14641:15736 0/1:-501.41,0,-542.818:1161:549:570:16451:14717 0/1:-406.712,0,-461.614:1003:470:489:14162:12962 0/1:-460.25,0,-618.42:1166:580:536:15896:16233 0/1:-484.296,0,-570.047:1161:554:564:16126:15547 . 0/1:-297.681,0,-321.713:723:346:349:9712:9855 1/1:-1480.14,-299.075,0:1050:9:1022:29215:174 0/1:-284.015,0,-294.892:684:304:355:9800:8122 1/1:-921.087,-182.812,0:636:4:626:17887:113 0/1:-457.092,0,-475.403:995:469:489:14149:13252 0/1:-335.368,0,-318.398:735:324:379:10767:8737 1/1:-1812.16,-351.976,0:1257:11:1225:35227:293 1/1:-1282.3,-255.015,0:927:10:905:26069:299 0/1:-326.229,0,-247.031:683:301:357:9740:8278 0/1:-516.468,0,-664.865:1264:600:611:17424:17020 1/1:-1492.32,-291.247,0:1040:10:1007:29182:255 0/1:-330.645,0,-250.935:657:286:351:10079:7982 0/1:-381.108,0,-445.087:953:464:461:13589:12798 0/1:-408.011,0,-397.791:890:396:454:13245:11089 0/1:-330.295,0,-523.154:944:485:428:12031:14117 1/1:-1459.7,-286.972,0:1007:6:984:27999:188 . 1/1:-1475.2,-295.915,0:1037:11:1012:29715:282 0/1:-135.592,0,-261.836:564:287:236:5963:8051 . 0/1:-524.233,0,-500.625:1136:526:560:16311:14689 0/1:-493.651,0,-455.015:1074:494:540:15223:13975 0/1:-518.037,0,-556.739:1220:564:622:17512:16091 0/1:-278.523,0,-329.137:640:294:321:8872:8411 . 1/1:-1637.68,-335.193,0:1154:6:1135:32262:137 . . 1/1:-1419.12,-298.75,0:1027:3:1009:29247:99 . 0/1:-320.427,0,-457.226:886:465:386:11165:12826 1/1:-1060.17,-211.588,0:769:9:750:21381:303 1/1:-1401.45,-286.894,0:979:7:963:26959:160 0/1:-197.571,0,-343.071:578:310:245:7034:8951 . . 0/1:-423.658,0,-396.833:901:418:445:12434:11794 . 1/1:-1474.86,-308.411,0:1071:9:1046:29947:248 1/1:-1561.53,-317.685,0:1090:4:1073:31281:96 . 1/1:-2084.55,-342.11,0:1277:16:1246:38290:513:16,1246 . 0/1:-712.014,0,-824.949:1329:632:667:20666:19025:632,667 0/1:-324.952,0,-534.988:744:384:343:10548:11718:384,343 . 0/1:-750.063,0,-818.475:1344:633:683:20785:19362:633,683 0/1:-525.257,0,-760.536:1103:550:522:16250:16326:550,522 0/1:-598.937,0,-756.968:1223:602:585:18251:18070:602,585 . 0/1:-663.358,0,-727.632:1240:585:629:19469:17510:585,629 0/1:-725.465,0,-849.936:1310:628:654:20448:18987:628,654 0/1:-469.733,0,-632.991:917:461:431:13667:14000:461,431 0/1:-635.81,0,-678.962:1103:509:571:17764:15379:509,571 . 1/1:-2157.36,-367.59,0:1331:16:1302:40633:484:16,1302 0/1:-652.494,0,-743.897:1180:568:584:18118:17295:568,584 0/1:-722.064,0,-828.193:1255:600:628:19584:17877:600,628 0/1:-508.515,0,-806.259:1124:592:504:15844:17974:592,504 . 0/1:-691.696,0,-791.909:1318:618:676:21168:18584:618,676 chr14 23855645 . A G 683.47 . AB=0.364055;ABP=107.511;AC=1;AF=0.5;AN=2;AO=237;CIGAR=1X;DP=651;DPB=651;DPRA=0;EPP=41.7211;EPPR=6.46546;GTI=0;LEN=1;MEANALT=3;MQM=15.5105;MQMR=15.4006;NS=1;NUMALT=1;ODDS=157.375;PAIRED=0.974684;PAIREDR=0.925414;PAO=0;PQA=0;PQR=0;PRO=0;QA=6271;QR=10144;RO=362;RPL=116;RPP=3.23936;RPPR=9.15281;RPR=121;RUN=1;SAF=72;SAP=82.2553;SAR=165;SF=0;SRF=152;SRP=23.1894;SRR=210;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4838C:p.V1613A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0019;1000g2015aug_all=0.048722;avsnp147=rs61742476;Kaviar_AF=0.0029495;Kaviar_AC=456;Kaviar_AN=154602;ExAC_ALL=0.0146;ExAC_AFR=0.1179;ExAC_AMR=0.0081;ExAC_EAS=0.0155;ExAC_FIN=0.0005;ExAC_NFE=0.0031;ExAC_OTH=0.0022;ExAC_SAS=0.0070;CLNALLELEID=53689;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=-2.655;MutationAssessor_pred=N;FATHMM_score=-1.03;FATHMM_pred=T;PROVEAN_score=2.59;PROVEAN_pred=N;VEST3_score=0.133;CADD_raw=1.714;CADD_phred=14.49;DANN_score=0.872;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.5;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=12.983;GDI_full_10282015=.;dpsi_max_tissue=-0.0436;dpsi_zscore=-0.236;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0109;gnomAD_exome_AFR=0.1081;gnomAD_exome_AMR=0.0082;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0.0134;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0100;gnomAD_exome_SAS=0.0055;gnomAD_genome_ALL=0.0354;gnomAD_genome_AFR=0.1142;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0123;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0045;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-93.4204,0,-247.768:651:362:237:6271:10144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23855705 . T A 502.95 . AB=0.379939;ABP=85.3942;AC=1;AF=0.5;AN=2;AO=250;CIGAR=1X;DP=658;DPB=658;DPRA=0;EPP=28.3384;EPPR=3.3921;GTI=0;LEN=1;MEANALT=3;MQM=13.1;MQMR=13.9725;NS=1;NUMALT=1;ODDS=115.808;PAIRED=0.908;PAIREDR=0.89011;PAO=0;PQA=0;PQR=0;PRO=0;QA=6818;QR=9749;RO=364;RPL=125;RPP=3.0103;RPPR=4.17955;RPR=125;RUN=1;SAF=71;SAP=104.323;SAR=179;SF=0;SRF=125;SRP=80.539;SRR=239;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.A4778T:p.Q1593L;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0215;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0215;esp6500siv2_ea=0.0034;1000g2015aug_all=0.0491214;avsnp147=rs45574136;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;ExAC_ALL=0.0147;ExAC_AFR=0.1161;ExAC_AMR=0.0088;ExAC_EAS=0.0163;ExAC_FIN=0.0005;ExAC_NFE=0.0032;ExAC_OTH=0.0022;ExAC_SAS=0.0073;CLNALLELEID=53687;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.816;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=1.9;MutationAssessor_pred=L;FATHMM_score=-1.26;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_pred=N;VEST3_score=0.061;CADD_raw=1.421;CADD_phred=12.90;DANN_score=0.758;fathmm-MKL_coding_score=0.544;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.993;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=1.82;phyloP7way_vertebrate=-1.277;phyloP20way_mammalian=-0.763;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.914;SiPhy_29way_logOdds=10.179;GDI_full_10282015=.;dpsi_max_tissue=0.0291;dpsi_zscore=0.191;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0112;gnomAD_exome_AFR=0.1115;gnomAD_exome_AMR=0.0082;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0.0145;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0052;gnomAD_genome_ALL=0.0352;gnomAD_genome_AFR=0.1139;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0117;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0042;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-75.265,0,-199.254:658:364:250:6818:9749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23855844 . T G 55.32 . AB=0.32646;ABP=79.1312;AC=3;AF=0.5;AN=6;AO=95;CIGAR=1X;DP=996;DPB=291;DPRA=0;EPP=53.5027;EPPR=3.11827;GTI=0;LEN=1;MEANALT=3;MQM=18.5684;MQMR=18.4475;NS=1;NUMALT=1;ODDS=4.93827;PAIRED=0.905263;PAIREDR=0.823204;PAO=0;PQA=0;PQR=0;PRO=0;QA=1751;QR=4235;RO=181;RPL=49;RPP=3.21602;RPPR=262.255;RPR=46;RUN=1;SAF=25;SAP=49.2969;SAR=70;SF=0;SRF=75;SRP=14.5395;SRR=106;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=.;esp6500siv2_all=0.0012;esp6500siv2_ea=.;1000g2015aug_all=0.00419329;avsnp147=rs193922653;Kaviar_AF=0.0011772;Kaviar_AC=182;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0139;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=45292;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4163;dpsi_zscore=1.041;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0136;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0124;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-24.6257,0,-128.414:291:181:95:1751:4235 . . 0/1:-34.5373,0,-155.022:340:219:113:1973:4884 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-31.6319,0,-183.59:365:234:119:2044:4673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23855849 . C T,G 466.55 . AB=0;ABP=0;AC=41,0;AF=1;AN=76;AO=198;CIGAR=1X;DP=11723;DPB=297;DPRA=0;EPP=8.31834;EPPR=13.3567;GTI=0;LEN=1;MEANALT=3;MQM=14.1667;MQMR=26.4118;NS=1;NUMALT=1;ODDS=77.2586;PAIRED=0.722222;PAIREDR=0.941176;PAO=0;PQA=0;PQR=0;PRO=0;QA=4062;QR=317;RO=17;RPL=179;RPP=283.766;RPPR=4.1599;RPR=19;RUN=1;SAF=91;SAP=5.81786;SAR=107;SF=0,1;SRF=3;SRP=18.4661;SRR=14;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.2398;esp6500siv2_ea=0.2634;esp6500siv2_all=0.2398;esp6500siv2_ea=0.2634;1000g2015aug_all=0.235224;avsnp147=rs2071634;Kaviar_AF=0.247021;Kaviar_AC=38190;Kaviar_AN=154602;ExAC_ALL=0.2532;ExAC_AFR=0.1879;ExAC_AMR=0.1652;ExAC_EAS=0.1743;ExAC_FIN=0.2112;ExAC_NFE=0.2676;ExAC_OTH=0.2581;ExAC_SAS=0.3757;CLNALLELEID=254918;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0566;dpsi_zscore=0.327;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2496;gnomAD_exome_AFR=0.1857;gnomAD_exome_AMR=0.1715;gnomAD_exome_ASJ=0.3317;gnomAD_exome_EAS=0.1774;gnomAD_exome_FIN=0.2169;gnomAD_exome_NFE=0.2645;gnomAD_exome_OTH=0.2741;gnomAD_exome_SAS=0.3580;gnomAD_genome_ALL=0.2193;gnomAD_genome_AFR=0.1873;gnomAD_genome_AMR=0.2273;gnomAD_genome_ASJ=0.3377;gnomAD_genome_EAS=0.1807;gnomAD_genome_FIN=0.2147;gnomAD_genome_NFE=0.2387;gnomAD_genome_OTH=0.2464;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1102;dpsi_zscore=0.513;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-161.878,-42.1238,0,.,.,.:297:17:198,.:4062,.:317 . 0/1:-17.6382,0,-57.5196,.,.,.:155:73:56,.:1210,.:1672 1/1:-140.527,-40.0838,0,.,.,.:236:15:160,.:3212,.:304 . . 0/1:-37.6153,0,-130.818,.,.,.:320:153:109,.:2044,.:3645 . . . 0/1:-33.7737,0,-150.924,.,.,.:294:151:92,.:2035,.:3616 1/1:-141.335,-33.3632,0,.,.,.:247:17:166,.:3274,.:352 . . . . . . . . . . . 1/1:-156.666,-27.5177,0,.,.,.:281:32:187,.:3918,.:688 . . 1/1:-127.245,-34.334,0,.,.,.:215:19:145,.:3058,.:421 . 0/1:-34.703,0,-100.674,.,.,.:233:116:84,.:1798,.:2954 . . . 0/1:-37.7236,0,-146.272,.,.,.:344:165:109,.:2214,.:4051 . . . . 0/1:-19.6175,0,-121.052,.,.,.:273:142:81,.:1699,.:3479 . . 0/1:-27.3159,0,-158.246,.,.,.:321:169:103,.:1962,.:4280 . 0/1:-39.9711,0,-119.996,.,.,.:271:130:104,.:2201,.:3236 0/1:-34.3553,0,-152.63,.,.,.:347:172:108,.:2374,.:4433 0/1:-31.9945,0,-120.599,.,.,.:300:145:107,.:2340,.:3563 . . . . . . . . . . 0/1:-27.78,0,-146.896,.,.,.:319:173:94,.:2021,.:4358 . . . . 0/1:-46.3378,0,-131.577,.,.,.:344:158:135,.:2840,.:4053 . . . 1/1:-208.442,-59.0732,0,.,.,.:299:13:217,.:4458,.:249 . . . . 0/1:-36.4598,0,-135.444,.,.,.:323:157:118,.:2359,.:3958 . . . . . . . 0/1:-30.5586,0,-51.4295,.,.,.:163:68:71,.:1374,.:1630 . 0/1:-23.7488,0,-123.286,.,.,.:290:143:89,.:1794,.:3437 . . . . . 1/1:-128.92,-33.4685,0,.,.,.:181:6:126,.:2678,.:97 . . . . 0/1:-24.5001,0,-78.4319,.,.,.:239:113:95,.:1993,.:2804 . . 1/1:-184.799,-48.5497,0,.,.,.:293:19:204,.:4169,.:301 . 0/1:-72.754,0,-316.005,.,.,.:433:244:145,.:3628,.:6682:244,145 0/0:0,.,.,-98.942,.,-657.299:419:390:.,21:.,387:10654:390,21 . 0/1:-54.6313,0,-217.966,.,.,.:305:166:99,.:2462,.:4373:166,99 0/0:0,.,.,-80.4865,.,-560.611:363:337:.,21:.,391:9298:337,21 0/1:-87.8869,0,-310.393,.,.,.:450:247:154,.:3750,.:6738:247,154 0/1:-64.5109,0,-195.194,.,.,.:313:159:114,.:2706,.:4403:159,114 0/0:0,.,.,-94.4806,.,-646.593:416:383:.,21:.,385:10710:383,21 . 0/0:0,.,.,-91.0793,.,-601.088:393:362:.,20:.,323:10366:362,20 . 0/1:-45.8078,0,-144.396,.,.,.:237:119:88,.:2075,.:3317:119,88 0/1:-43.8714,0,-270.96,.,.,.:336:196:98,.:2414,.:5370:196,98 . 0/1:-103.824,0,-201.956,.,.,.:373:181:150,.:3906,.:5105:181,150 . 0/1:-100.348,0,-227.847,.,.,.:366:196:135,.:3300,.:5365:196,135 0/1:-49.3036,0,-221.433,.,.,.:292:169:94,.:2239,.:4635:169,94 . 0/0:0,.,.,-97.654,.,-682.504:442:403:.,24:.,448:11509:403,24 chr14 23856714 . G A 6301.38 . AB=0.435201;ABP=44.66;AC=11;AF=0.5;AN=22;AO=497;CIGAR=1X;DP=9999;DPB=1142;DPRA=0;EPP=6.19542;EPPR=8.89904;GTI=0;LEN=1;MEANALT=3;MQM=33.2113;MQMR=34.7305;NS=1;NUMALT=1;ODDS=1531.68;PAIRED=0.903421;PAIREDR=0.90678;PAO=0;PQA=0;PQR=0;PRO=0;QA=13329;QR=17860;RO=590;RPL=166;RPP=121.961;RPPR=81.463;RPR=331;RUN=1;SAF=314;SAP=77.9895;SAR=183;SF=0,1;SRF=383;SRP=117.016;SRR=207;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0308;esp6500siv2_ea=0.0417;esp6500siv2_all=0.0308;esp6500siv2_ea=0.0417;1000g2015aug_all=0.019369;avsnp147=rs45536340;Kaviar_AF=0.0303489;Kaviar_AC=4692;Kaviar_AN=154602;ExAC_ALL=0.0312;ExAC_AFR=0.0060;ExAC_AMR=0.0202;ExAC_EAS=0;ExAC_FIN=0.0214;ExAC_NFE=0.0409;ExAC_OTH=0.0288;ExAC_SAS=0.0357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1831;dpsi_zscore=-0.652;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0312;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0227;gnomAD_exome_ASJ=0.0823;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0216;gnomAD_exome_NFE=0.0379;gnomAD_exome_OTH=0.0407;gnomAD_exome_SAS=0.0353;gnomAD_genome_ALL=0.0222;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0197;gnomAD_genome_NFE=0.0341;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-694.874,0,-1054.21:1142:590:497:13329:17860 . . 0/1:-637.979,0,-799.479:958:472:444:11968:14106 . . 0/1:-715.938,0,-783.204:1034:487:502:13036:14447 . . . . . . . . . . . . . . . . . 0/1:-363.097,0,-497.496:637:318:289:7518:9284 . . . . . 0/1:-810.271,0,-896.187:1136:536:552:14651:16361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-328.96,0,-467.273:581:289:251:6627:8639 . 0/1:-552.846,0,-803.349:882:453:389:10275:13886 0/1:-359.53,0,-394.548:568:266:277:7127:7780 0/1:-874.122,0,-1028.29:1217:595:580:15619:17887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-851.384,0,-976.015:880:446:420:13111:14361:446,420 0/1:-1035.17,0,-955.955:964:448:502:15601:14507:448,502 . . . . . . . chr14 23856861 . C T 3375.69 . AB=0.432392;ABP=29.7294;AC=1;AF=0.5;AN=2;AO=291;CIGAR=1X;DP=673;DPB=673;DPRA=0;EPP=3.01776;EPPR=3.01649;GTI=0;LEN=1;MEANALT=3;MQM=28.9072;MQMR=31.7949;NS=1;NUMALT=1;ODDS=777.282;PAIRED=0.869416;PAIREDR=0.920228;PAO=0;PQA=0;PQR=0;PRO=0;QA=7616;QR=10083;RO=351;RPL=179;RPP=36.5077;RPPR=34.1966;RPR=112;RUN=1;SAF=139;SAP=4.2714;SAR=152;SF=0;SRF=165;SRP=5.73856;SRR=186;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon32:c.G4527A:p.E1509E;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0289;esp6500siv2_ea=0.0057;esp6500siv2_all=0.0289;esp6500siv2_ea=0.0057;1000g2015aug_all=0.0325479;avsnp147=rs34855944;Kaviar_AF=0.0112806;Kaviar_AC=1744;Kaviar_AN=154602;ExAC_ALL=0.0114;ExAC_AFR=0.0794;ExAC_AMR=0.0067;ExAC_EAS=0.0173;ExAC_FIN=0.0005;ExAC_NFE=0.0034;ExAC_OTH=0.0033;ExAC_SAS=0.0059;CLNALLELEID=53682;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1675;dpsi_zscore=0.656;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0099;gnomAD_exome_AFR=0.0799;gnomAD_exome_AMR=0.0075;gnomAD_exome_ASJ=0.0018;gnomAD_exome_EAS=0.0161;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0091;gnomAD_exome_SAS=0.0050;gnomAD_genome_ALL=0.0239;gnomAD_genome_AFR=0.0741;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0117;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-349.775,0,-555.778:673:351:291:7616:10083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23857351 . G A 2787.16 . AB=0.405276;ABP=68.0087;AC=74;AF=0.5;AN=124;AO=338;CIGAR=1X;DP=59310;DPB=834;DPRA=0;EPP=3.42147;EPPR=43.6284;GTI=0;LEN=1;MEANALT=3;MQM=17.6834;MQMR=20.1884;NS=1;NUMALT=1;ODDS=385.987;PAIRED=0.949704;PAIREDR=0.898551;PAO=0;PQA=0;PQR=0;PRO=0;QA=7807;QR=12669;RO=414;RPL=110;RPP=92.4647;RPPR=10.5842;RPR=228;RUN=1;SAF=195;SAP=20.3821;SAR=143;SF=0,1;SRF=255;SRP=51.3492;SRR=159;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.4842;esp6500siv2_ea=0.3660;esp6500siv2_all=0.4842;esp6500siv2_ea=0.3660;1000g2015aug_all=0.419728;avsnp147=rs8022522;Kaviar_AF=0.346321;Kaviar_AC=53542;Kaviar_AN=154602;ExAC_ALL=0.3563;ExAC_AFR=0.7400;ExAC_AMR=0.2195;ExAC_EAS=0.1648;ExAC_FIN=0.2676;ExAC_NFE=0.3592;ExAC_OTH=0.3282;ExAC_SAS=0.3364;CLNALLELEID=53677;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2142;dpsi_zscore=-0.714;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3434;gnomAD_exome_AFR=0.7407;gnomAD_exome_AMR=0.2298;gnomAD_exome_ASJ=0.4176;gnomAD_exome_EAS=0.1623;gnomAD_exome_FIN=0.2654;gnomAD_exome_NFE=0.3605;gnomAD_exome_OTH=0.3602;gnomAD_exome_SAS=0.3395;gnomAD_genome_ALL=0.4344;gnomAD_genome_AFR=0.7264;gnomAD_genome_AMR=0.2931;gnomAD_genome_ASJ=0.4636;gnomAD_genome_EAS=0.1574;gnomAD_genome_FIN=0.2700;gnomAD_genome_NFE=0.3456;gnomAD_genome_OTH=0.35;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-187.115,0,-423.399:834:414:338:7807:12669 0/1:-157.927,0,-608.579:1104:600:376:9049:17832 . 0/1:-91.7899,0,-354.238:574:312:211:5056:9713 1/1:-739.658,-159.123,0:851:39:651:15768:783 . 0/1:-214.356,0,-366.005:834:392:366:8965:11828 0/1:-212.409,0,-705.606:1172:635:428:10169:19455 . 0/1:-142.586,0,-557.636:960:538:336:8004:16172 . 0/1:-150.978,0,-532.365:932:503:338:8123:15608 1/1:-736.177,-171.534,0:876:39:685:16088:710 1/1:-550.079,-129.671,0:632:27:485:11601:499 . . . . . 0/1:-98.5208,0,-412.586:693:369:252:6034:11090 . . . 0/1:-238.15,0,-745.049:1232:654:465:10877:19737 1/1:-891.02,-208.817,0:972:27:769:18428:491 0/1:-126.492,0,-379.062:718:370:274:6570:11128 . 0/1:-146.813,0,-601.221:978:535:362:8339:16584 0/1:-86.3913,0,-457.427:817:453:296:6524:13571 0/1:-92.3671,0,-486.836:754:424:248:5784:13052 . 0/1:-248.532,0,-591.277:1115:582:442:10725:17700 . 0/1:-181.101,0,-631.731:1138:600:415:9902:17930 0/1:-109.345,0,-565.371:853:484:287:6869:14847 . . . . 1/1:-671.597,-143.606,0:740:28:559:13637:538 . . . . 0/1:-166.514,0,-820.718:1211:707:398:9523:20911 0/1:-227.361,0,-459.34:902:439:370:9152:13255 0/1:-136.456,0,-587.536:946:545:319:7667:16388 . 0/1:-194.666,0,-403.727:758:381:314:7444:11766 . . . 0/1:-201.21,0,-711.882:1167:650:412:10100:20174 . . . 1/1:-831.498,-195.377,0:981:36:756:17799:684 0/1:-62.8786,0,-346.808:594:346:190:4378:10287 0/1:-133.569,0,-334.771:663:337:261:6159:10100 . 0/1:-72.7452,0,-365.267:652:353:224:5154:10256 0/1:-191.166,0,-608.575:1185:615:454:10481:18781 0/1:-200.13,0,-528.987:994:515:383:9272:15440 0/1:-70.1138,0,-416.211:647:387:203:4757:11669 0/1:-223.004,0,-697.524:1237:649:474:11314:19821 1/1:-903.965,-211.957,0:947:26:767:18179:462 . 0/1:-136.871,0,-659.032:995:582:335:7838:17770 0/1:-122.672,0,-567.469:908:489:313:7280:14819 . 1/1:-761.697,-159.744,0:878:46:675:15493:1007 . 0/1:-79.751,0,-790.71:1067:673:314:7545:20365 0/1:-44.2393,0,-322.143:638:356:210:4876:10174 . . 0/1:-210.77,0,-675.042:1139:609:424:10261:18625 0/1:-157.014,0,-631.377:1094:592:372:9478:18050 0/1:-127.228,0,-408.314:694:376:248:5859:11421 . 0/1:-111.292,0,-701.824:1053:624:333:7992:18715 . . 0/1:-153.365,0,-520.941:906:486:332:7892:14715 . . 1/1:-533.884,-109.73,0:597:23:461:11061:555 1/1:-832.534,-186.226,0:971:40:743:17197:829 0/1:-76.7923,0,-324.973:533:295:191:4409:8926 . . 0/1:-231.295,0,-500.644:995:488:408:9614:14865 . 1/1:-876.081,-188.256,0:1056:53:796:18630:1003 0/1:-183.105,0,-638.66:1138:615:413:9702:18279 . 0/1:-376.11,0,-986.885:1378:736:537:14309:22648:736,537 . 0/1:-417.267,0,-948.755:1371:719:560:14595:22036:719,560 0/1:-262.84,0,-696.073:890:497:318:8360:15180:497,318 . . 0/1:-294.982,0,-744.036:1100:577:427:11201:17851:577,427 0/1:-320.924,0,-917.064:1309:717:502:13125:22172:717,502 . . 0/1:-437.062,0,-905.957:1277:648:537:14677:20104:648,537 1/1:-1065.72,-208.48,0:920:19:757:20092:332:19,757 0/1:-219.33,0,-793.149:986:570:337:9176:17651:570,337 . 0/1:-392.89,0,-847.055:1257:631:519:13871:19727:631,519 . 0/1:-341.373,0,-1055.81:1391:756:541:14041:23492:756,541 0/1:-266.386,0,-870.798:1106:634:406:10721:19376:634,406 . . chr14 23857531 . G A 9427.59 . AB=0.450658;ABP=35.1538;AC=1;AF=0.5;AN=2;AO=685;CIGAR=1X;DP=1520;DPB=1520;DPRA=0;EPP=3.01347;EPPR=14.295;GTI=0;LEN=1;MEANALT=3;MQM=29.8146;MQMR=32.2312;NS=1;NUMALT=1;ODDS=2170.78;PAIRED=0.954745;PAIREDR=0.95572;PAO=0;PQA=0;PQR=0;PRO=0;QA=20755;QR=25905;RO=813;RPL=487;RPP=267.775;RPPR=248.226;RPR=198;RUN=1;SAF=283;SAP=47.9011;SAR=402;SF=1;SRF=336;SRP=56.1112;SRR=477;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon30:c.C4192T:p.R1398W;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs374022661;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.302e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.005e-05;ExAC_OTH=0;ExAC_SAS=6.059e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=3.77;MutationAssessor_pred=H;FATHMM_score=-1.35;FATHMM_pred=T;PROVEAN_score=-5.9;PROVEAN_pred=D;VEST3_score=0.924;CADD_raw=4.078;CADD_phred=23.7;DANN_score=0.987;fathmm-MKL_coding_score=0.821;fathmm-MKL_coding_pred=D;MetaSVM_score=0.567;MetaSVM_pred=D;MetaLR_score=0.745;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=-9.28;phyloP7way_vertebrate=0.038;phyloP20way_mammalian=-1.509;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.943;SiPhy_29way_logOdds=24.267;GDI_full_10282015=.;dpsi_max_tissue=-0.2476;dpsi_zscore=-0.772;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.658e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.687e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=9.693e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-985.156,0,-1431.86:1520:813:685:20755:25905:813,685 . . chr14 23858099 . T C 4666.70 . AB=0.485448;ABP=4.59024;AC=2;AF=0.5;AN=4;AO=417;CIGAR=1X;DP=1835;DPB=859;DPRA=0;EPP=3.14048;EPPR=5.79168;GTI=0;LEN=1;MEANALT=3;MQM=23.5396;MQMR=27.0726;NS=1;NUMALT=1;ODDS=930.519;PAIRED=0.81295;PAIREDR=0.823245;PAO=0;PQA=0;PQR=0;PRO=0;QA=11700;QR=12292;RO=413;RPL=162;RPP=48.0488;RPPR=3.14175;RPR=255;RUN=1;SAF=210;SAP=3.05717;SAR=207;SF=0;SRF=202;SRP=3.43618;SRR=211;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon29:c.A4144G:p.I1382V;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=511114;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.265;MutationAssessor_pred=M;FATHMM_score=-1.1;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_pred=N;VEST3_score=0.343;CADD_raw=3.514;CADD_phred=23.1;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=0.107;MetaSVM_pred=D;MetaLR_score=0.595;MetaLR_pred=D;integrated_fitCons_score=0.515;integrated_confidence_value=0;GERP++_RS=4.74;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.092;SiPhy_29way_logOdds=14.555;GDI_full_10282015=.;dpsi_max_tissue=-0.0674;dpsi_zscore=-0.338;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-416.455,0,-516.642:859:413:417:11700:12292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-539.466,0,-550.17:976:477:463:13158:14027 . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23858232 . C T 4091.69 . AB=0.509407;ABP=3.54138;AC=17;AF=0.5;AN=32;AO=352;CIGAR=1X;DP=15276;DPB=691;DPRA=0;EPP=26.7238;EPPR=4.24592;GTI=0;LEN=1;MEANALT=3;MQM=19.1676;MQMR=18.2323;NS=1;NUMALT=1;ODDS=446.193;PAIRED=0.863636;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=9568;QR=8900;RO=297;RPL=263;RPP=189.782;RPPR=211.83;RPR=89;RUN=1;SAF=196;SAP=12.8806;SAR=156;SF=0,1;SRF=186;SRP=44.1367;SRR=111;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon29:c.G4011A:p.S1337S;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0859;esp6500siv2_ea=0.1172;esp6500siv2_all=0.0859;esp6500siv2_ea=0.1172;1000g2015aug_all=0.0347444;avsnp147=rs451794;Kaviar_AF=0.0789964;Kaviar_AC=12213;Kaviar_AN=154602;ExAC_ALL=0.0766;ExAC_AFR=0.0234;ExAC_AMR=0.0382;ExAC_EAS=0.0001;ExAC_FIN=0.0816;ExAC_NFE=0.1103;ExAC_OTH=0.0865;ExAC_SAS=0.0382;CLNALLELEID=53668;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2992;dpsi_zscore=-0.852;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0772;gnomAD_exome_AFR=0.0221;gnomAD_exome_AMR=0.0400;gnomAD_exome_ASJ=0.1447;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0815;gnomAD_exome_NFE=0.1116;gnomAD_exome_OTH=0.0830;gnomAD_exome_SAS=0.0394;gnomAD_genome_ALL=0.0783;gnomAD_genome_AFR=0.0235;gnomAD_genome_AMR=0.0492;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0840;gnomAD_genome_NFE=0.1166;gnomAD_genome_OTH=0.0854;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-286.868,0,-227.969:691:297:352:9568:8900 . . . . . . . . . . . . 1/1:-952.143,-224.369,0:885:17:783:21243:386 . . . . . . . . . . . . . . . . . . . . 0/1:-227.648,0,-307.865:839:379:395:10759:11802 . . . . 0/1:-236.629,0,-237.707:618:256:307:8630:7551 . . . . . . 0/1:-343.359,0,-316.697:892:387:433:12121:11701 . 0/1:-276.376,0,-281.527:673:307:327:9158:9522 . . . . . . . 0/1:-389.157,0,-350.225:971:409:477:13029:12667 0/1:-171.398,0,-180.72:520:238:243:6563:7014 0/1:-246.893,0,-220.61:662:275:325:8983:8279 . . 0/1:-403.488,0,-450.525:1225:559:571:14680:16982 . . . . . 0/1:-304.637,0,-352.091:878:398:416:11574:11938 . . . . . . . . . . . . . . . . . . . 0/1:-281.551,0,-382.494:910:434:396:10471:13331 . . . . . 0/1:-628.252,0,-327.093:1166:447:634:16712:13355 . . 0/1:-903.913,0,-774.324:1431:599:769:22525:19039:599,769 . 0/1:-741.741,0,-788.279:1430:639:726:21286:20031:639,726 . . . . 0/1:-685.601,0,-921.371:1485:705:699:19809:21953:705,699 . . . . . . . . . . . . chr14 23858270 . GAGGGGGGGGGGCACC GAGGGGGGGGCACC 2638.91 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=194;CIGAR=2M2D12M;DP=621;DPB=632.25;DPRA=0;EPP=164.192;EPPR=7.35324;GTI=0;LEN=2;MEANALT=193;MQM=28.9691;MQMR=40;NS=1;NUMALT=1;ODDS=178.173;PAIRED=0.876289;PAIREDR=1;PAO=40.8333;PQA=1075.33;PQR=1116.83;PRO=42.3333;QA=3675;QR=56;RO=2;RPL=151;RPP=133.567;RPPR=7.35324;RPR=43;RUN=1;SAF=132;SAP=57.8568;SAR=62;SF=1;SRF=2;SRP=7.35324;SRR=0;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs368353621;Kaviar_AF=0.0018952;Kaviar_AC=293;Kaviar_AN=154602;ExAC_ALL=0.1157;ExAC_AFR=0.1202;ExAC_AMR=0.0721;ExAC_EAS=0.0002;ExAC_FIN=0.1240;ExAC_NFE=0.1486;ExAC_OTH=0.1278;ExAC_SAS=0.0481;CLNALLELEID=222364;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1220;gnomAD_exome_AFR=0.1144;gnomAD_exome_AMR=0.0822;gnomAD_exome_ASJ=0.2006;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.1311;gnomAD_exome_NFE=0.1598;gnomAD_exome_OTH=0.1219;gnomAD_exome_SAS=0.0558;gnomAD_genome_ALL=0.1359;gnomAD_genome_AFR=0.1080;gnomAD_genome_AMR=0.1021;gnomAD_genome_ASJ=0.2333;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.146;gnomAD_genome_NFE=0.1710;gnomAD_genome_OTH=0.1243;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-302.385,-138.357,0:621:2:194:3675:56:2,194 . . . . . . . . . . . . . . . . . chr14 23858271 . AGGGGGGGGGGCACC AGGGGGGGGGCACC,AGGCGGGGGCACC,AGGGGGGGGCACC,AGGGGGGGGGGCCCC,AGGGCGGGGGGCACC,AGGGGGGGGGGGCACC,GGGGGGGGGGGCACC,CGGGGGGGGGGCACC 606.20 . 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G A 1569.93 . AB=0.435897;ABP=23.8898;AC=1;AF=0.5;AN=2;AO=255;CIGAR=1X;DP=585;DPB=585;DPRA=0;EPP=64.5354;EPPR=244.847;GTI=0;LEN=1;MEANALT=3;MQM=22.2588;MQMR=18.0441;NS=1;NUMALT=1;ODDS=217.52;PAIRED=0.807843;PAIREDR=0.740088;PAO=0;PQA=0;PQR=0;PRO=0;QA=5570;QR=6162;RO=227;RPL=187;RPP=123.599;RPPR=72.1243;RPR=68;RUN=1;SAF=162;SAP=43.553;SAR=93;SF=0;SRF=170;SRP=125.158;SRR=57;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0119808;avsnp147=rs555976716;Kaviar_AF=0.003247;Kaviar_AC=502;Kaviar_AN=154602;ExAC_ALL=0.0231;ExAC_AFR=0.2400;ExAC_AMR=0.0116;ExAC_EAS=0.0022;ExAC_FIN=0.0010;ExAC_NFE=0.0021;ExAC_OTH=0;ExAC_SAS=0.0662;CLNALLELEID=193334;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5809;dpsi_zscore=1.211;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0049;gnomAD_exome_AFR=0.0277;gnomAD_exome_AMR=0.0042;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0142;gnomAD_genome_ALL=0.0081;gnomAD_genome_AFR=0.0281;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0033;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-187.513,0,-148.408:585:227:255:5570:6162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23858275 . G C 3009.31 . AB=0.498607;ABP=3.0224;AC=1;AF=0.5;AN=2;AO=358;CIGAR=1X;DP=718;DPB=718;DPRA=0;EPP=79.0968;EPPR=350.859;GTI=0;LEN=1;MEANALT=3;MQM=22.5866;MQMR=19.2738;NS=1;NUMALT=1;ODDS=414.742;PAIRED=0.888268;PAIREDR=0.758929;PAO=0;PQA=0;PQR=0;PRO=0;QA=9206;QR=8381;RO=336;RPL=248;RPP=118.523;RPPR=3.0103;RPR=110;RUN=1;SAF=181;SAP=3.10735;SAR=177;SF=0;SRF=180;SRP=6.73282;SRR=156;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0279553;avsnp147=rs200618133;Kaviar_AF=0.011203;Kaviar_AC=1732;Kaviar_AN=154602;ExAC_ALL=0.0122;ExAC_AFR=0.0862;ExAC_AMR=0.0086;ExAC_EAS=0.0004;ExAC_FIN=0.0010;ExAC_NFE=0.0073;ExAC_OTH=0.0079;ExAC_SAS=0.0015;CLNALLELEID=328943;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4413;dpsi_zscore=-1.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0818;gnomAD_exome_AMR=0.0092;gnomAD_exome_ASJ=0.0113;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0073;gnomAD_exome_OTH=0.0100;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0269;gnomAD_genome_AFR=0.0799;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0074;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-328.273,0,-226.377:718:336:358:9206:8381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23858697 . C G 3889.67 . AB=0.472452;ABP=7.79591;AC=1;AF=0.5;AN=2;AO=343;CIGAR=1X;DP=726;DPB=726;DPRA=0;EPP=3.16857;EPPR=9.08568;GTI=0;LEN=1;MEANALT=3;MQM=26.4577;MQMR=28.5492;NS=1;NUMALT=1;ODDS=895.63;PAIRED=0.810496;PAIREDR=0.825137;PAO=0;PQA=0;PQR=0;PRO=0;QA=9265;QR=10710;RO=366;RPL=141;RPP=26.5673;RPPR=40.9814;RPR=202;RUN=1;SAF=189;SAP=10.7656;SAR=154;SF=0;SRF=202;SRP=11.5775;SRR=164;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon28:c.G3883C:p.E1295Q;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0044;1000g2015aug_all=0.00419329;avsnp147=rs34935550;Kaviar_AF=0.003247;Kaviar_AC=502;Kaviar_AN=154602;ExAC_ALL=0.0032;ExAC_AFR=0.0006;ExAC_AMR=0.0020;ExAC_EAS=0.0175;ExAC_FIN=0.0002;ExAC_NFE=0.0026;ExAC_OTH=0.0011;ExAC_SAS=0.0024;CLNALLELEID=53659;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.952;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.19;MutationAssessor_pred=M;FATHMM_score=-1.55;FATHMM_pred=D;PROVEAN_score=-2.12;PROVEAN_pred=N;VEST3_score=0.356;CADD_raw=6.301;CADD_phred=29.1;DANN_score=0.999;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=0.499;MetaSVM_pred=D;MetaLR_score=0.623;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.902;SiPhy_29way_logOdds=17.870;GDI_full_10282015=.;dpsi_max_tissue=0.4393;dpsi_zscore=1.067;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM165005#"Atrioventricular_septum_defect";gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0.0161;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0036;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0129;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-399.902,0,-528.681:726:366:343:9265:10710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23858875 . G A 10759.90 . AB=0.494505;ABP=3.32051;AC=1;AF=0.5;AN=2;AO=585;CIGAR=1X;DP=1183;DPB=1183;DPRA=0;EPP=19.6731;EPPR=41.5116;GTI=0;LEN=1;MEANALT=3;MQM=37.8359;MQMR=38.4663;NS=1;NUMALT=1;ODDS=2477.55;PAIRED=0.929915;PAIREDR=0.966312;PAO=0;PQA=0;PQR=0;PRO=0;QA=17223;QR=17474;RO=564;RPL=308;RPP=6.57745;RPPR=3.25671;RPR=277;RUN=1;SAF=265;SAP=14.2389;SAR=320;SF=1;SRF=230;SRP=44.6533;SRR=334;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon27:c.C3786T:p.R1262R;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775907910;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.943e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=7.493e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0976;dpsi_zscore=-0.442;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.437e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.484e-05;gnomAD_exome_NFE=4.476e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1087.29,0,-1114.81:1183:564:585:17223:17474:564,585 . . . . . . . . . . . . . . . chr14 23859425 . G A 328.88 . AB=0.344601;ABP=226.399;AC=1;AF=0.5;AN=2;AO=367;CIGAR=1X;DP=1065;DPB=1065;DPRA=0;EPP=20.9087;EPPR=4.3067;GTI=0;LEN=1;MEANALT=3;MQM=14.0954;MQMR=8.6403;NS=1;NUMALT=1;ODDS=75.7265;PAIRED=0.989101;PAIREDR=0.970149;PAO=0;PQA=0;PQR=0;PRO=0;QA=10917;QR=20739;RO=670;RPL=173;RPP=5.61962;RPPR=3.02326;RPR=194;RUN=1;SAF=132;SAP=65.7818;SAR=235;SF=0;SRF=303;SRP=16.2855;SRR=367;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon26:c.C3573T:p.A1191A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs727505358;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0011;ExAC_OTH=0;ExAC_SAS=0.0007;CLNALLELEID=175419;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0336;dpsi_zscore=0.217;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-68.521,0,-127.099:1065:670:367:10917:20739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23859610 . C T 2229.34 . AB=0.353686;ABP=252.736;AC=33;AF=0.5;AN=58;AO=475;CIGAR=1X;DP=37118;DPB=1343;DPRA=0;EPP=6.85495;EPPR=11.3967;GTI=0;LEN=1;MEANALT=3;MQM=14.2211;MQMR=12.8399;NS=1;NUMALT=1;ODDS=165.613;PAIRED=0.941053;PAIREDR=0.921182;PAO=0;PQA=0;PQR=0;PRO=0;QA=11873;QR=25346;RO=812;RPL=220;RPP=8.61041;RPPR=24.6715;RPR=255;RUN=1;SAF=246;SAP=4.33147;SAR=229;SF=0,1;SRF=335;SRP=56.9334;SRR=477;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon26:c.G3388A:p.A1130T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0728834;avsnp147=rs28730771;Kaviar_AF=0.091894;Kaviar_AC=14207;Kaviar_AN=154602;ExAC_ALL=0.1003;ExAC_AFR=0.0261;ExAC_AMR=0.0996;ExAC_EAS=0.0760;ExAC_FIN=0.0931;ExAC_NFE=0.1217;ExAC_OTH=0.0952;ExAC_SAS=0.0716;CLNALLELEID=53650;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.328;SIFT_pred=T;Polyphen2_HDIV_score=0.891;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.713;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=1.9;MutationAssessor_pred=L;FATHMM_score=-1.66;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.275;CADD_raw=5.149;CADD_phred=25.4;DANN_score=0.999;fathmm-MKL_coding_score=0.644;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.877;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=3.35;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.013;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.985;SiPhy_29way_logOdds=9.869;GDI_full_10282015=.;dpsi_max_tissue=0.2192;dpsi_zscore=0.759;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0941;gnomAD_exome_AFR=0.0213;gnomAD_exome_AMR=0.0941;gnomAD_exome_ASJ=0.0878;gnomAD_exome_EAS=0.0662;gnomAD_exome_FIN=0.0813;gnomAD_exome_NFE=0.1183;gnomAD_exome_OTH=0.1067;gnomAD_exome_SAS=0.0664;gnomAD_genome_ALL=0.0808;gnomAD_genome_AFR=0.0263;gnomAD_genome_AMR=0.1253;gnomAD_genome_ASJ=0.09;gnomAD_genome_EAS=0.0595;gnomAD_genome_FIN=0.0890;gnomAD_genome_NFE=0.1101;gnomAD_genome_OTH=0.0844;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-100.334,0,-399.076:1343:812:475:11873:25346 . . . . . . . . . 0/1:-91.5776,0,-259.817:1087:636:413:10333:20118 1/1:-650.338,-187.991,0:1226:322:836:20830:10311 . . . . . . . . . . . 0/1:-133.157,0,-387.875:1681:1032:571:14265:32217 . . 0/1:-110.151,0,-239.365:1062:575:442:11324:17762 0/1:-19.081,0,-192.113:882:503:337:8058:15485 0/1:-141.308,0,-221.072:828:445:342:8793:14284 . . . . . . . . . 0/1:-71.9763,0,-250.295:947:588:323:8026:18204 . . . . 0/1:-188.37,0,-391.711:1342:733:544:14111:22902 0/1:-203.312,0,-265.445:1168:614:487:12568:19173 . . . . . . . . . . 0/1:-184.934,0,-383.203:1306:689:542:13845:21678 . . . . . . . 0/1:-125.17,0,-364.256:1670:1053:555:14467:33055 1/1:-966.782,-301.015,0:1242:159:977:24466:4825 . . 0/1:-151.459,0,-258.109:1057:547:463:11479:17015 . . 0/1:-168.492,0,-469.601:1560:890:611:15504:28042 1/1:-973.983,-308.355,0:1316:183:1051:26155:5621 . . . . . . . . . . . . . 1/1:-460.971,-128.166,0:1005:303:637:15710:9231 0/1:-71.0561,0,-415.608:1438:900:471:11841:28287 0/1:-98.2453,0,-142.547:656:348:278:7015:10727 . . 0/1:-188.861,0,-279.117:1113:589:464:11585:18096 . 0/1:-133.59,0,-281.169:1251:700:490:11803:21614 0/1:-196.97,0,-374.103:1333:731:544:13472:22780 . 0/1:-285.176,0,-330.807:1555:828:694:20109:26065:828,694 . . 0/1:-155.73,0,-269.324:894:511:365:10529:16258:511,365 . 0/1:-269.054,0,-420.219:1712:956:703:20170:30495:956,703 0/1:-86.3441,0,-516.637:1700:1123:546:15798:35394:1123,546 . . . . 0/1:-21.67,0,-477.844:1447:982:440:12837:31931:982,440 . . 0/1:-139.467,0,-363.294:1900:1112:741:21375:35764:1112,741 . . 0/1:-219.342,0,-305.91:1397:755:604:17309:24256:755,604 . . chr14 23859657 . TGG TG 358.71 . AB=0.227608;ABP=614.613;AC=1;AF=0.5;AN=2;AO=216;CIGAR=1M1D1M;DP=949;DPB=876.667;DPRA=0;EPP=5.5839;EPPR=25.4849;GTI=0;LEN=1;MEANALT=26;MQM=27.4306;MQMR=19.2189;NS=1;NUMALT=1;ODDS=82.5955;PAIRED=0.944444;PAIREDR=0.943615;PAO=1.5;PQA=35;PQR=35;PRO=1.5;QA=4946;QR=17566;RO=603;RPL=63;RPP=84.4405;RPPR=145.618;RPR=153;RUN=1;SAF=135;SAP=32.3252;SAR=81;SF=0;SRF=288;SRP=5.63551;SRR=315;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-96.0663,0,-577.666:949:603:216:4946:17566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23861811 . A G 9672.41 . AB=0.439266;ABP=25.6942;AC=95;AF=0.5;AN=148;AO=311;CIGAR=1X;DP=59127;DPB=708;DPRA=0;EPP=3.18486;EPPR=7.27716;GTI=0;LEN=1;MEANALT=3;MQM=34.8682;MQMR=35.6765;NS=1;NUMALT=1;ODDS=1107.47;PAIRED=0.765273;PAIREDR=0.700809;PAO=0;PQA=0;PQR=0;PRO=0;QA=9126;QR=10589;RO=371;RPL=254;RPP=273.984;RPPR=401.724;RPR=57;RUN=1;SAF=198;SAP=53.4569;SAR=113;SF=0,1;SRF=221;SRP=32.5154;SRR=150;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon25:c.T3302C:p.V1101A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.4556;esp6500siv2_ea=0.3737;esp6500siv2_all=0.4556;esp6500siv2_ea=0.3737;1000g2015aug_all=0.3748;avsnp147=rs365990;Kaviar_AF=0.334659;Kaviar_AC=51739;Kaviar_AN=154602;ExAC_ALL=0.3461;ExAC_AFR=0.6294;ExAC_AMR=0.2201;ExAC_EAS=0.1673;ExAC_FIN=0.2713;ExAC_NFE=0.3635;ExAC_OTH=0.3455;ExAC_SAS=0.3092;CLNALLELEID=53647;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.935;MutationAssessor_pred=N;FATHMM_score=-0.95;FATHMM_pred=T;PROVEAN_score=1.91;PROVEAN_pred=N;VEST3_score=0.021;CADD_raw=0.873;CADD_phred=9.908;DANN_score=0.808;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.949;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.422;integrated_confidence_value=0;GERP++_RS=4.69;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.080;phastCons7way_vertebrate=0.938;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=9.475;GDI_full_10282015=.;dpsi_max_tissue=0.6208;dpsi_zscore=1.246;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1010480#"Heart_rate_association_with";gnomAD_exome_ALL=0.3362;gnomAD_exome_AFR=0.6296;gnomAD_exome_AMR=0.2336;gnomAD_exome_ASJ=0.4545;gnomAD_exome_EAS=0.1652;gnomAD_exome_FIN=0.2656;gnomAD_exome_NFE=0.3631;gnomAD_exome_OTH=0.3574;gnomAD_exome_SAS=0.3100;gnomAD_genome_ALL=0.4187;gnomAD_genome_AFR=0.6294;gnomAD_genome_AMR=0.2805;gnomAD_genome_ASJ=0.5033;gnomAD_genome_EAS=0.1629;gnomAD_genome_FIN=0.2772;gnomAD_genome_NFE=0.3678;gnomAD_genome_OTH=0.3505;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-523.25,0,-636.554:708:371:311:9126:10589 1/1:-2169.96,-257.563,0:983:16:949:27725:414 . . 1/1:-1888.99,-234.14,0:854:9:820:23883:177 . 1/1:-1753.23,-216.038,0:808:13:780:22518:298 0/1:-672.927,0,-703.061:865:432:406:11625:11998 0/1:-619.09,0,-545.811:732:335:367:10280:9410 0/1:-697.018,0,-668.797:867:407:433:12256:11576 . 0/1:-765.829,0,-578.284:814:363:419:12401:10235 0/1:-643.005,0,-552.733:730:341:361:10593:9414 1/1:-1440.68,-188.874,0:664:2:640:18398:50 . 0/1:-1144.48,0,-858.177:1192:516:626:18304:14743 . . . 0/1:-448.56,0,-480.901:576:282:272:7842:7945 . . . 0/1:-877.016,0,-791.808:1021:464:526:14851:13270 0/1:-695.705,0,-706.425:900:436:422:11935:12158 0/1:-428.936,0,-458.75:574:279:275:7867:7989 1/1:-1555.68,-182.482,0:750:19:714:20039:485 1/1:-1713.92,-201.338,0:786:16:760:21754:382 . 0/1:-556.528,0,-497.687:628:293:313:9273:8295 0/1:-611.84,0,-545.586:722:340:348:10330:9417 0/1:-981.771,0,-936.767:1142:547:559:16361:15409 0/1:-705.055,0,-730.851:879:432:413:11898:12222 0/1:-721.112,0,-547.632:810:345:424:12067:9600 0/1:-803.394,0,-558.107:826:336:452:13090:9678 . . . . 0/1:-449.979,0,-318.654:478:206:249:7215:5685 0/1:-998.986,0,-785.893:1061:475:555:16192:13589 . . 1/1:-1801.94,-227.674,0:800:3:775:22384:82 0/1:-803.61,0,-863.239:1009:498:477:13881:14273 0/1:-800.554,0,-608.304:858:362:453:13021:10570 0/1:-649.59,0,-575.733:763:352:374:10621:9747 0/1:-399.91,0,-359.925:468:223:230:6599:6137 0/1:-619.273,0,-544.205:700:318:354:10149:9109 . . 0/1:-480.196,0,-445.619:612:289:293:8504:8007 . . . 0/1:-526.681,0,-585.754:688:345:311:9129:9840 1/1:-1927.99,-234.92,0:860:10:830:23934:213 0/1:-322.931,0,-344.77:446:217:212:6014:6319 0/1:-497.634,0,-468.063:627:295:298:8568:8165 . 0/1:-298.373,0,-439.549:477:253:204:5601:7289 1/1:-2285.44,-291.655,0:1053:8:1021:29184:214 0/1:-605.563,0,-637.131:759:372:358:10078:10602 0/1:-468.333,0,-348.519:519:221:274:7832:6213 1/1:-2480.86,-310.023,0:1092:8:1053:30504:152 1/1:-1977.39,-241.777,0:850:5:831:24253:154 . 0/1:-777.264,0,-763.453:938:432:451:13017:12438 0/1:-602.419,0,-491.175:688:304:351:9877:8555 . 0/1:-655.989,0,-722.803:863:435:394:11124:11966 0/1:-950.511,0,-845.333:1055:494:522:15230:14110 1/1:-2073.17,-249.843,0:933:13:901:26036:310 . 1/1:-1646.38,-205.681,0:730:5:702:20549:92 1/1:-2070.62,-242.584,0:977:18:923:26255:488 0/1:-801.535,0,-608.007:900:396:457:13024:10818 0/1:-780.369,0,-806.26:969:480:465:13304:13642 0/1:-422.472,0,-339.343:476:208:246:7143:5924 0/1:-525.809,0,-391.807:559:240:293:8483:6806 0/1:-843.706,0,-566.245:893:363:487:13692:10137 . . 1/1:-1527.83,-172.784,0:699:14:664:19217:368 . 0/1:-686.995,0,-584.605:783:356:396:11374:10073 0/1:-406.863,0,-572.194:634:325:279:7566:9371 0/1:-636.945,0,-630.747:806:383:381:11152:10655 1/1:-1135.37,-136.835,0:488:4:476:14400:91 . 0/1:-956.077,0,-879.4:1149:542:550:15991:15171 0/1:-532.861,0,-571.729:684:332:326:9230:9395 . 1/1:-1944.62,-223.734,0:884:18:844:24626:466 1/1:-2090.63,-271.718,0:968:7:934:26567:168 . 1/1:-1943.26,-215.238,0:780:6:761:23309:179:6,761 . . 0/1:-510.593,0,-411.808:478:224:242:7570:6454:224,242 . 0/1:-1087.21,0,-842.177:1023:472:521:16392:13547:472,521 . 0/1:-1037.8,0,-908.984:1015:493:501:15912:14370:493,501 0/1:-789.876,0,-681.559:785:368:391:12114:10530:368,391 . 0/1:-880.824,0,-898.398:960:490:447:13997:13879:490,447 0/1:-658.704,0,-593.662:666:324:324:10208:9225:324,324 1/1:-1929.27,-216.296,0:770:6:755:23042:164:6,755 0/1:-768.565,0,-682.764:786:384:378:11953:10895:384,378 1/1:-2599.46,-265.307,0:1043:23:1011:31556:552:23,1011 . . 0/1:-880.66,0,-662.053:794:361:415:13202:10470:361,415 . . chr14 23862710 . C T 6923.59 . AB=0.459621;ABP=17.2147;AC=3;AF=0.5;AN=6;AO=461;CIGAR=1X;DP=3056;DPB=1003;DPRA=0;EPP=58.974;EPPR=47.3261;GTI=0;LEN=1;MEANALT=3;MQM=35.2256;MQMR=34.7735;NS=1;NUMALT=1;ODDS=1572.69;PAIRED=0.958785;PAIREDR=0.953061;PAO=0;PQA=0;PQR=0;PRO=0;QA=12124;QR=14290;RO=490;RPL=228;RPP=3.12806;RPPR=3.87889;RPR=233;RUN=1;SAF=216;SAP=6.97171;SAR=245;SF=0;SRF=217;SRP=16.9077;SRR=273;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon23:c.G2946A:p.E982E;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0120;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0120;1000g2015aug_all=0.00419329;avsnp147=rs145274612;Kaviar_AF=0.0096506;Kaviar_AC=1492;Kaviar_AN=154602;ExAC_ALL=0.0099;ExAC_AFR=0.0015;ExAC_AMR=0.0035;ExAC_EAS=0;ExAC_FIN=0.0349;ExAC_NFE=0.0129;ExAC_OTH=0.0143;ExAC_SAS=0.0020;CLNALLELEID=53642;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2263;dpsi_zscore=0.772;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0052;gnomAD_exome_ASJ=0.0288;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0348;gnomAD_exome_NFE=0.0113;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0124;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0306;gnomAD_genome_NFE=0.0151;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-697.124,0,-828.964:1003:490:461:12124:14290 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-796.161,0,-877.194:1067:507:509:13569:14832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-632.242,0,-1034.13:986:548:412:11527:16452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23863371 . G A 9564.62 . AB=0.460307;ABP=24.3858;AC=1;AF=0.5;AN=2;AO=719;CIGAR=1X;DP=1562;DPB=1562;DPRA=0;EPP=4.10057;EPPR=3.56592;GTI=0;LEN=1;MEANALT=3;MQM=30.7552;MQMR=30.1658;NS=1;NUMALT=1;ODDS=2202.34;PAIRED=0.965229;PAIREDR=0.968668;PAO=0;PQA=0;PQR=0;PRO=0;QA=19181;QR=23417;RO=766;RPL=382;RPP=9.12606;RPPR=7.10378;RPR=337;RUN=1;SAF=350;SAP=4.10057;SAR=369;SF=0;SRF=412;SRP=12.5466;SRR=354;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon21:c.C2591T:p.T864M;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200153625;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.647e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189939;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.053;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.75;MutationAssessor_pred=N;FATHMM_score=-1.71;FATHMM_pred=D;PROVEAN_score=-1.06;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=2.181;CADD_phred=17.39;DANN_score=0.991;fathmm-MKL_coding_score=0.192;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.598;MetaSVM_pred=T;MetaLR_score=0.376;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.57;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.971;phastCons20way_mammalian=0.147;SiPhy_29way_logOdds=14.294;GDI_full_10282015=.;dpsi_max_tissue=-0.0194;dpsi_zscore=-0.100;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.498e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.162e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=9.689e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . 0/1:-965.877,0,-1216.73:1562:766:719:19181:23417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23865885 . G A 11485.13 . AB=0.443299;ABP=24.6803;AC=91;AF=0.5;AN=146;AO=344;CIGAR=1X;DP=76145;DPB=776;DPRA=0;EPP=16.3674;EPPR=45.2914;GTI=0;LEN=1;MEANALT=3;MQM=35.3314;MQMR=36.637;NS=1;NUMALT=1;ODDS=1138.87;PAIRED=0.979651;PAIREDR=0.963942;PAO=0;PQA=0;PQR=0;PRO=0;QA=9446;QR=12919;RO=416;RPL=90;RPP=172.789;RPPR=224.521;RPR=254;RUN=1;SAF=189;SAP=10.3075;SAR=155;SF=0,1;SRF=234;SRP=17.1249;SRR=182;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.4461;esp6500siv2_ea=0.3628;esp6500siv2_all=0.4461;esp6500siv2_ea=0.3628;1000g2015aug_all=0.367812;avsnp147=rs452036;Kaviar_AF=0.339006;Kaviar_AC=52411;Kaviar_AN=154602;ExAC_ALL=0.3384;ExAC_AFR=0.6223;ExAC_AMR=0.2121;ExAC_EAS=0.1637;ExAC_FIN=0.2711;ExAC_NFE=0.3548;ExAC_OTH=0.3422;ExAC_SAS=0.3001;CLNALLELEID=254920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0675;dpsi_zscore=0.371;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3280;gnomAD_exome_AFR=0.6233;gnomAD_exome_AMR=0.2252;gnomAD_exome_ASJ=0.4472;gnomAD_exome_EAS=0.1612;gnomAD_exome_FIN=0.2644;gnomAD_exome_NFE=0.3529;gnomAD_exome_OTH=0.35;gnomAD_exome_SAS=0.3006;gnomAD_genome_ALL=0.4134;gnomAD_genome_AFR=0.6269;gnomAD_genome_AMR=0.2679;gnomAD_genome_ASJ=0.4967;gnomAD_genome_EAS=0.1559;gnomAD_genome_FIN=0.2732;gnomAD_genome_NFE=0.3604;gnomAD_genome_OTH=0.3449;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-522.721,0,-813.074:776:416:344:9446:12919 1/1:-2547.33,-316.108,0:1242:17:1155:32654:492 . . 1/1:-2526.39,-316.364,0:1209:11:1133:32507:360 . 1/1:-1784.98,-206.967,0:866:17:803:23009:477 0/1:-1033.95,0,-1168.47:1284:615:630:18137:19394 0/1:-684.908,0,-1010.17:995:527:444:12740:16367 0/1:-868.052,0,-1018.71:1101:549:525:14999:17147 . 0/1:-775.175,0,-952.094:987:497:463:13277:15343 0/1:-865.894,0,-818.886:1035:467:520:14506:14134 1/1:-1826.07,-234.016,0:896:10:840:24218:290 . 0/1:-1288.17,0,-1378.28:1558:746:758:22013:23092 . . . 0/1:-560.612,0,-700.685:776:392:354:10034:11883 . . . 0/1:-1044.53,0,-1180.35:1266:624:604:17571:19510 0/1:-817.476,0,-1107.96:1139:590:515:14617:18244 0/1:-567.589,0,-745.274:826:406:386:10543:12559 1/1:-2130.63,-225.529,0:1025:28:957:27678:878 0/1:-857.67,0,-840.881:976:457:486:14210:14328 . 0/1:-752.468,0,-767.028:868:416:427:12400:12963 0/1:-839.034,0,-736.163:903:402:480:13870:12562 0/1:-899.996,0,-1080.38:1153:571:550:15716:17780 0/1:-849.946,0,-1117.94:1138:582:525:14992:18208 0/1:-971.449,0,-1267.23:1321:661:617:17500:20725 0/1:-780.16,0,-927.549:976:492:456:13392:15419 . . . . 0/1:-592.82,0,-762.556:737:382:334:9927:11950 0/1:-1080.23,0,-1116.29:1292:600:647:18360:18674 . . 1/1:-2012.27,-237.404,0:940:14:887:25401:444 0/1:-801.191,0,-1086.6:1122:587:500:14489:17623 0/1:-964.421,0,-1064.7:1177:565:572:16598:17664 0/1:-923.021,0,-1126.66:1220:608:569:16096:18659 0/1:-372.33,0,-680.066:598:335:245:6883:10664 0/1:-634.438,0,-809.81:820:414:386:10882:13056 . . 0/1:-771.54,0,-1007.55:1092:547:502:13915:16937 . . . 0/1:-584.635,0,-955.584:857:473:356:10520:14918 1/1:-2437.89,-300.799,0:1169:13:1097:31348:420 0/1:-319.725,0,-689.162:617:353:239:6315:10885 0/1:-668.976,0,-746.823:833:401:406:11562:12314 . 0/1:-529.596,0,-630.357:734:347:357:10027:10691 1/1:-3056.03,-391.149,0:1443:14:1377:39610:353 0/1:-785.199,0,-1049.59:1031:535:464:13394:16768 0/1:-506.69,0,-730.347:776:405:338:9218:12350 0/1:-1034.09,0,-1221.22:1319:658:632:18023:20438 0/1:-898.012,0,-982.391:1095:521:539:15219:16549 . 0/1:-815.816,0,-1007.01:1067:547:492:13935:16672 0/1:-897.957,0,-908.385:1063:491:538:15503:15304 . 0/1:-835.657,0,-1124.09:1142:581:539:15225:18313 . 1/1:-2317.24,-280.049,0:1099:16:1033:29622:451 . 1/1:-1849.79,-220.639,0:872:13:820:23611:390 1/1:-2864.18,-345.367,0:1365:18:1272:36337:543 0/1:-1010.25,0,-1101.62:1251:605:603:17499:18635 0/1:-937.884,0,-1206.99:1247:626:583:16290:19662 0/1:-631.561,0,-614.396:718:334:364:10697:10296 0/1:-444.978,0,-504.166:574:274:279:8093:8344 0/1:-919.548,0,-1113.92:1206:609:555:15864:18829 . . 1/1:-2270.21,-284.67,0:1067:8:1011:28820:284 . 0/1:-919.211,0,-866.872:1049:490:525:15191:15046 0/1:-499.034,0,-774.932:731:392:313:8996:12499 0/1:-726.315,0,-1059.31:1088:580:481:13799:18062 1/1:-1390.72,-177.055,0:644:2:607:17492:72 . 0/1:-1006.96,0,-1326.11:1324:687:604:17407:21693 0/1:-729.396,0,-994.112:998:528:443:12549:16300 . 1/1:-2442.12,-282.568,0:1203:26:1124:31622:805 1/1:-2767.52,-343.003,0:1297:14:1235:35658:409 . 1/1:-2906.72,-345.444,0:1235:10:1196:35133:238:10,1196 . . 0/1:-682.305,0,-922.087:834:445:376:11099:13991:445,376 . 0/1:-1027.4,0,-1259.69:1228:621:579:16929:19479:621,579 . 0/1:-1065.61,0,-1201.86:1203:576:598:17430:18408:576,598 0/1:-897.929,0,-1166.57:1080:566:501:14705:17669:566,501 . 0/1:-1196.09,0,-1213.94:1248:581:634:18786:18631:581,634 0/1:-784.272,0,-971.647:925:465:444:12697:14817:465,444 1/1:-2329.92,-248.969,0:1006:16:952:28291:481:16,952 0/1:-1019.33,0,-1065.33:1082:523:538:16071:16510:523,538 1/1:-2731.53,-291.778,0:1196:25:1148:33364:820:25,1148 . . 0/1:-736.878,0,-1000.2:915:478:420:12131:15177:478,420 . . chr14 23866146 . G C 3358.18 . AB=0.476815;ABP=8.34684;AC=9;AF=0.5;AN=18;AO=545;CIGAR=1X;DP=11311;DPB=1143;DPRA=0;EPP=3.68366;EPPR=5.51527;GTI=0;LEN=1;MEANALT=3;MQM=15.3339;MQMR=17.9471;NS=1;NUMALT=1;ODDS=660.16;PAIRED=0.974312;PAIREDR=0.967577;PAO=0;PQA=0;PQR=0;PRO=0;QA=15872;QR=17049;RO=586;RPL=292;RPP=9.0705;RPPR=3.0103;RPR=253;RUN=1;SAF=264;SAP=4.16178;SAR=281;SF=0;SRF=299;SRP=3.5439;SRR=287;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0124;1000g2015aug_all=0.0325479;avsnp147=rs148225043;Kaviar_AF=0.0213257;Kaviar_AC=3297;Kaviar_AN=154602;ExAC_ALL=0.0232;ExAC_AFR=0.0040;ExAC_AMR=0.0393;ExAC_EAS=0.0845;ExAC_FIN=0.0057;ExAC_NFE=0.0144;ExAC_OTH=0.0287;ExAC_SAS=0.0340;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3395;dpsi_zscore=0.946;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0235;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0361;gnomAD_exome_ASJ=0.04;gnomAD_exome_EAS=0.0834;gnomAD_exome_FIN=0.0062;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0292;gnomAD_exome_SAS=0.0331;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0777;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-295.838,0,-460.376:1143:586:545:15872:17049 . . . . . . . . . . . . . . . . . 0/1:-359.875,0,-419.256:1055:512:534:15675:15422 . . . . . . . . . . . . . . 0/1:-311.023,0,-465.453:1307:693:602:17519:20739 0/1:-391.041,0,-522.884:1385:705:662:18690:20626 . . . . . . . . . . 0/1:-414.873,0,-553.581:1464:719:726:20401:21401 . . . . . . . . . . . 0/1:-426.735,0,-703.111:1382:741:628:17788:22099 . . . 0/1:-357.404,0,-576.992:1388:724:641:18238:21543 . . . . . . . . . . . . . 0/1:-219.943,0,-369.845:912:478:417:12233:14076 . . . . 0/1:-344.461,0,-527.671:1275:660:597:16806:19502 . . . . . . . . . . . . . . . . . . . . . . . . chr14 23866189 . G A 5214.94 . AB=0.442478;ABP=41.9815;AC=9;AF=0.5;AN=18;AO=600;CIGAR=1X;DP=14043;DPB=1356;DPRA=0;EPP=3.37221;EPPR=8.1013;GTI=0;LEN=1;MEANALT=3;MQM=20.1483;MQMR=21.5453;NS=1;NUMALT=1;ODDS=942.237;PAIRED=0.943333;PAIREDR=0.960948;PAO=0;PQA=0;PQR=0;PRO=0;QA=16339;QR=21592;RO=717;RPL=251;RPP=37.7683;RPPR=24.8916;RPR=349;RUN=1;SAF=332;SAP=17.8342;SAR=268;SF=0;SRF=410;SRP=35.1402;SRR=307;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon18:c.C2151T:p.Y717Y;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0127;1000g2015aug_all=0.0339457;avsnp147=rs76202964;Kaviar_AF=0.021785;Kaviar_AC=3368;Kaviar_AN=154602;ExAC_ALL=0.0236;ExAC_AFR=0.0075;ExAC_AMR=0.0399;ExAC_EAS=0.0845;ExAC_FIN=0.0059;ExAC_NFE=0.0146;ExAC_OTH=0.0286;ExAC_SAS=0.0340;CLNALLELEID=53628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0212;dpsi_zscore=0.143;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0239;gnomAD_exome_AFR=0.0086;gnomAD_exome_AMR=0.0364;gnomAD_exome_ASJ=0.04;gnomAD_exome_EAS=0.0837;gnomAD_exome_FIN=0.0063;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0295;gnomAD_exome_SAS=0.0331;gnomAD_genome_ALL=0.0132;gnomAD_genome_AFR=0.0064;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0771;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-424.591,0,-711.101:1356:717:600:16339:21592 . . . . . . . . . . . . . . . . . 0/1:-544.162,0,-678.378:1322:635:638:17296:19371 . . . . . . . . . . . . . . 0/1:-578.922,0,-832.603:1706:883:770:21655:26783 0/1:-579.455,0,-901.059:1757:908:794:22045:27526 . . . . . . . . . . 0/1:-670.769,0,-940.642:1814:916:839:23010:27251 . . . . . . . . . . . 0/1:-619.882,0,-896.067:1636:854:718:19596:25597 . . . 0/1:-569.144,0,-911.92:1714:883:773:21392:26500 . . . . . . . . . . . . . 0/1:-340.447,0,-680.999:1139:600:512:14104:18164 . . . . 0/1:-542.495,0,-858.417:1599:838:711:19724:25285 . . . . . . . . . . . . . . . . . . . . . . . . chr14 23867953 . G A 5425.79 . AB=0.470677;ABP=7.97693;AC=1;AF=0.5;AN=2;AO=313;CIGAR=1X;DP=665;DPB=665;DPRA=0;EPP=3.35024;EPPR=5.3503;GTI=0;LEN=1;MEANALT=3;MQM=38.8435;MQMR=38.6507;NS=1;NUMALT=1;ODDS=1249.33;PAIRED=0.968051;PAIREDR=0.979104;PAO=0;PQA=0;PQR=0;PRO=0;QA=9058;QR=10559;RO=335;RPL=77;RPP=178.4;RPPR=254.571;RPR=236;RUN=1;SAF=212;SAP=88.4886;SAR=101;SF=1;SRF=221;SRP=77.2228;SRR=114;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon15:c.C1875T:p.Y625Y;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0003;1000g2015aug_all=.;avsnp147=rs146591697;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=9.061e-05;ExAC_AFR=9.612e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=53626;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0671;dpsi_zscore=-0.337;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-576.022,0,-689.631:665:335:313:9058:10559:335,313 . . . . . . . . chr14 23869993 . G A 7880.51 . AB=0.45251;ABP=28.3788;AC=20;AF=0.5;AN=38;AO=586;CIGAR=1X;DP=30457;DPB=1295;DPRA=0;EPP=38.5987;EPPR=3.83021;GTI=0;LEN=1;MEANALT=3;MQM=23.2526;MQMR=26.1401;NS=1;NUMALT=1;ODDS=1188.5;PAIRED=0.928328;PAIREDR=0.933628;PAO=0;PQA=0;PQR=0;PRO=0;QA=17003;QR=21173;RO=678;RPL=288;RPP=3.38086;RPPR=7.16108;RPR=298;RUN=1;SAF=254;SAP=25.5551;SAR=332;SF=0,1;SRF=298;SRP=24.5457;SRR=380;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon13:c.C1335T:p.N445N;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0447;esp6500siv2_ea=0.0620;esp6500siv2_all=0.0447;esp6500siv2_ea=0.0620;1000g2015aug_all=0.0321486;avsnp147=rs61731179;Kaviar_AF=0.0529877;Kaviar_AC=8192;Kaviar_AN=154602;ExAC_ALL=0.0544;ExAC_AFR=0.0099;ExAC_AMR=0.0307;ExAC_EAS=0.0002;ExAC_FIN=0.0404;ExAC_NFE=0.0668;ExAC_OTH=0.0464;ExAC_SAS=0.0836;CLNALLELEID=53618;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0098;dpsi_zscore=0.067;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0537;gnomAD_exome_AFR=0.0092;gnomAD_exome_AMR=0.0322;gnomAD_exome_ASJ=0.0807;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0469;gnomAD_exome_NFE=0.0639;gnomAD_exome_OTH=0.0654;gnomAD_exome_SAS=0.0860;gnomAD_genome_ALL=0.0386;gnomAD_genome_AFR=0.0114;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0461;gnomAD_genome_NFE=0.0547;gnomAD_genome_OTH=0.0695;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-531.574,0,-918.67:1295:678:586:17003:21173 . . . . 0/1:-354.734,0,-758.184:1142:597:513:14070:18371 . 0/1:-667.671,0,-1082.67:1570:800:739:21206:25264 . . . 0/1:-474.072,0,-716.025:1220:606:588:15921:18888 . 0/1:-761.546,0,-1064.88:1586:782:772:22302:24671 . . . . 0/1:-761.214,0,-1335.23:1813:975:792:22268:30271 . . . 1/1:-3157.96,-578.124,0:2127:29:2020:57230:753 . . . . 0/1:-652.233,0,-1117.43:1711:887:773:21449:27850 . . . 0/1:-802.794,0,-971.91:1681:823:805:22658:25428 . . 0/1:-564.04,0,-903.272:1309:678:594:16637:21145 0/1:-854.947,0,-1292.32:1937:944:951:27422:29742 . . 0/1:-757.753,0,-1272.65:1872:981:849:24250:31154 . . 0/1:-485.627,0,-810.913:1206:613:566:16137:19251 . . . . . . . . . . . 0/1:-680.98,0,-1100.4:1644:836:755:21511:26484 . . . . . . . . . . . 0/1:-343.842,0,-665.368:930:493:416:11817:15759 . . . . . 0/1:-618.073,0,-1249.95:1661:893:721:20437:28310 . . . 0/1:-499.592,0,-1089.83:1478:800:636:17700:24928 0/1:-800.012,0,-1651.12:2260:1204:990:28192:37994 . . . . . . 0/1:-1011.96,0,-1858.01:2015:1148:851:26935:36735:1148,851 . . . . . . . . . . . . . . . . . . chr14 23871692 . C T 16903.10 . AB=0.477707;ABP=11.1429;AC=1;AF=0.5;AN=2;AO=900;CIGAR=1X;DP=1884;DPB=1884;DPRA=0;EPP=63.2421;EPPR=43.0058;GTI=0;LEN=1;MEANALT=3;MQM=38.5133;MQMR=39.4704;NS=1;NUMALT=1;ODDS=3892.08;PAIRED=0.946667;PAIREDR=0.971459;PAO=0;PQA=0;PQR=0;PRO=0;QA=27009;QR=29326;RO=946;RPL=346;RPP=107.395;RPPR=116.138;RPR=554;RUN=1;SAF=509;SAP=36.6054;SAR=391;SF=1;SRF=525;SRP=27.8376;SRR=421;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon12:c.G1122A:p.A374A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000199681;avsnp147=rs148091079;Kaviar_AF=0.0010673;Kaviar_AC=165;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0002;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0035;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=6.057e-05;CLNALLELEID=175575;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4089;dpsi_zscore=-0.994;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0041;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1718.95,0,-1946.81:1884:946:900:27009:29326:946,900 . . . . . . . . . . . . . chr14 23871909 . G A 7619.39 . AB=0.447526;ABP=34.915;AC=4;AF=0.5;AN=8;AO=597;CIGAR=1X;DP=5386;DPB=1334;DPRA=0;EPP=9.73568;EPPR=71.8544;GTI=0;LEN=1;MEANALT=3;MQM=27.8677;MQMR=29.7953;NS=1;NUMALT=1;ODDS=1598.9;PAIRED=0.852596;PAIREDR=0.84186;PAO=0;PQA=0;PQR=0;PRO=0;QA=15766;QR=18532;RO=645;RPL=326;RPP=14.0132;RPPR=3.283;RPR=271;RUN=1;SAF=201;SAP=141.319;SAR=396;SF=0,1;SRF=239;SRP=96.9021;SRR=406;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon11:c.C999T:p.T333T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0401;esp6500siv2_ea=0.0087;esp6500siv2_all=0.0401;esp6500siv2_ea=0.0087;1000g2015aug_all=0.0423323;avsnp147=rs78107039;Kaviar_AF=0.0195728;Kaviar_AC=3026;Kaviar_AN=154602;ExAC_ALL=0.0203;ExAC_AFR=0.1057;ExAC_AMR=0.0192;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0102;ExAC_OTH=0.0244;ExAC_SAS=0.0262;CLNALLELEID=45296;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1411;dpsi_zscore=-0.560;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0180;gnomAD_exome_AFR=0.1014;gnomAD_exome_AMR=0.0188;gnomAD_exome_ASJ=0.0293;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0092;gnomAD_exome_OTH=0.0237;gnomAD_exome_SAS=0.0258;gnomAD_genome_ALL=0.0298;gnomAD_genome_AFR=0.0913;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0061;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-718.737,0,-947.883:1334:645:597:15766:18532 . . . . . . . . . . . . . . . . . . . 0/1:-775.051,0,-1017.28:1355:689:600:15980:20139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-501.311,0,-893.549:1087:585:446:11827:16726 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1362.79,0,-1633.95:1610:820:755:22514:25319:820,755 . . . . . chr14 23872662 . TGGGT TGGGC,GGGGT 2841.79 . AB=0;ABP=0;AC=10,0;AF=1;AN=40;AO=316;CIGAR=4M1X;DP=7684;DPB=383.2;DPRA=0;EPP=38.6334;EPPR=0;GTI=0;LEN=1;MEANALT=22;MQM=37.1867;MQMR=0;NS=1;NUMALT=1;ODDS=269.114;PAIRED=0.898734;PAIREDR=0;PAO=2;PQA=46;PQR=0;PRO=0;QA=9904;QR=0;RO=0;RPL=216;RPP=95.4765;RPPR=0;RPR=100;RUN=1;SAF=136;SAP=16.314;SAR=180;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs538318997;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0.0008;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.0238;dpsi_zscore=2.432;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.749e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.955e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-811.57,-97.5337,0,.,.,.:382:0:316,.:9904,.:0:0,316 0/0:.,.,.,.,.,-744.217:417:371:.,39:.,803:10060:371,39 0/0:.,.,.,.,.,-878.225:476:428:.,40:.,962:11583:428,40 0/0:.,.,.,.,.,-345.853:216:179:.,30:.,673:4808:179,30 1/1:-507.067,-63.5865,0,.,.,.:266:3:208,.:6236,.:75:3,208 1/1:-904.273,-114.713,0,.,.,.:446:2:348,.:10889,.:57:2,348 0/0:.,.,.,.,.,-635.747:360:317:.,35:.,831:8734:317,35 0/0:.,.,.,.,.,-693.083:385:349:.,34:.,757:9260:349,34 1/1:-686.143,-89.2472,0,.,.,.:356:4:280,.:8561,.:122:4,280 0/0:.,.,.,.,.,-669.131:378:338:.,33:.,691:8985:338,33 0/0:.,.,.,.,.,-788.302:435:384:.,44:.,1058:10746:384,44 0/0:.,.,.,.,.,-673.75:361:329:.,25:.,583:9027:329,25 0/0:.,.,.,.,.,-643.853:359:324:.,31:.,774:8677:324,31 0/0:.,.,.,.,.,-643.469:352:315:.,32:.,754:8654:315,32 1/1:-855.256,-104.579,0,.,.,.:432:2:348,.:10606,.:49:2,348 0/0:.,.,.,.,.,-666.81:371:332:.,35:.,926:9159:332,35 0/0:.,.,.,.,.,-758.081:448:390:.,53:.,1130:10533:390,53 0/0:.,.,.,.,.,-690.621:373:330:.,33:.,694:9106:330,33 0/0:.,.,.,.,.,-706.919:376:338:.,37:.,709:9272:338,37 0/0:.,.,.,.,.,-887.576:495:435:.,51:.,1144:12054:435,51 chr14 23872663 . GGGT GGGC 8290.43 . AB=0;ABP=0;AC=14;AF=1;AN=14;AO=423;CIGAR=3M1X;DP=2674;DPB=469.75;DPRA=0;EPP=27.4509;EPPR=5.18177;GTI=0;LEN=1;MEANALT=11;MQM=37.2671;MQMR=3;NS=1;NUMALT=1;ODDS=599.585;PAIRED=0.921986;PAIREDR=1;PAO=5;PQA=138.5;PQR=152.5;PRO=6;QA=12738;QR=18;RO=1;RPL=298;RPP=156.651;RPPR=5.18177;RPR=125;RUN=1;SAF=172;SAP=35.0485;SAR=251;SF=1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1063.8,-132.484,0:463:1:423:12738:18:1,423 . . . 1/1:-764.539,-97.1579,0:351:1:316:9629:25:1,316 . . . 1/1:-940.197,-106.02,0:429:5:382:11577:156:5,382 1/1:-778.12,-96.8572,0:355:1:323:9696:35:1,323 1/1:-804.687,-96.2928,0:360:1:322:9794:35:1,322 1/1:-736.373,-91.2924,0:348:2:311:9136:71:2,311 . 1/1:-797.949,-96.9324,0:368:3:328:9905:90:3,328 . . . . chr14 23872664 . GGT GGC 3318.80 . AB=0.469734;ABP=6.29643;AC=2;AF=0.5;AN=4;AO=194;CIGAR=2M1X;DP=861;DPB=416;DPRA=0;EPP=4.62211;EPPR=18.0389;GTI=0;LEN=1;MEANALT=9;MQM=34.7835;MQMR=35.8192;NS=1;NUMALT=1;ODDS=682.329;PAIRED=0.917526;PAIREDR=0.937853;PAO=1.66667;PQA=35.3333;PQR=35.3333;PRO=1.66667;QA=5783;QR=5205;RO=177;RPL=107;RPP=7.48756;RPPR=42.8697;RPR=87;RUN=1;SAF=86;SAP=8.42779;SAR=108;SF=1;SRF=85;SRP=3.61144;SRR=92;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-347.584,0,-309.15:413:177:194:5783:5205:177,194 . . . . . . . . . . . . . . 0/1:-334.71,0,-360.089:448:203:196:5658:5865:203,196 . . . chr14 23872665 . GT GC 2821.64 . AB=0.437209;ABP=10.3731;AC=2;AF=0.5;AN=4;AO=94;CIGAR=1M1X;DP=708;DPB=215;DPRA=0;EPP=18.6264;EPPR=8.68272;GTI=0;LEN=1;MEANALT=6;MQM=36.2872;MQMR=36.0408;NS=1;NUMALT=1;ODDS=366.194;PAIRED=0.968085;PAIREDR=0.918367;PAO=0;PQA=0;PQR=0;PRO=0;QA=2772;QR=2902;RO=98;RPL=52;RPP=5.32038;RPPR=7.35324;RPR=42;RUN=1;SAF=38;SAP=10.4949;SAR=56;SF=1;SRF=51;SRP=3.36483;SRR=47;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-168.091,0,-180.656:215:98:94:2772:2902:98,94 . . . . . . . . . . . . . . . 0/1:-420.658,0,-376.427:493:216:231:6818:6221:216,231 chr14 23872666 . T C,G 4906.43 . AB=0;ABP=0;AC=149,0;AF=1;AN=188;AO=319;CIGAR=1X;DP=37921;DPB=343;DPRA=0;EPP=22.1315;EPPR=20.3821;GTI=0;LEN=1;MEANALT=3;MQM=27.2508;MQMR=15;NS=1;NUMALT=1;ODDS=420.729;PAIRED=0.893417;PAIREDR=0.125;PAO=0;PQA=0;PQR=0;PRO=0;QA=8636;QR=148;RO=8;RPL=219;RPP=99.406;RPPR=20.3821;RPR=100;RUN=1;SAF=159;SAP=3.01711;SAR=160;SF=0,1;SRF=8;SRP=20.3821;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.8281;esp6500siv2_ea=0.7680;esp6500siv2_all=0.8281;esp6500siv2_ea=0.7680;1000g2015aug_all=0.784944;avsnp147=rs434273;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.7565;ExAC_AFR=0.9514;ExAC_AMR=0.7160;ExAC_EAS=0.6850;ExAC_FIN=0.7585;ExAC_NFE=0.7624;ExAC_OTH=0.7941;ExAC_SAS=0.6732;CLNALLELEID=53711;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8130;dpsi_zscore=1.906;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7528;gnomAD_exome_AFR=0.9536;gnomAD_exome_AMR=0.7207;gnomAD_exome_ASJ=0.8423;gnomAD_exome_EAS=0.6755;gnomAD_exome_FIN=0.7501;gnomAD_exome_NFE=0.7600;gnomAD_exome_OTH=0.7619;gnomAD_exome_SAS=0.6774;gnomAD_genome_ALL=0.8069;gnomAD_genome_AFR=0.9499;gnomAD_genome_AMR=0.7506;gnomAD_genome_ASJ=0.8477;gnomAD_genome_EAS=0.6476;gnomAD_genome_FIN=0.7566;gnomAD_genome_NFE=0.7593;gnomAD_genome_OTH=0.7351;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.1584;dpsi_zscore=2.458;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-584.197,-91.2312,0,.,.,.:343:8:319,.:8636,.:148 1/1:-872.567,-130.312,0,.,.,.:498:14:462,.:12627,.:297 1/1:-893.937,-125.415,0,.,.,.:473:6:449,.:12685,.:181 1/1:-418.621,-67.0882,0,.,.,.:238:1:224,.:5981,.:14 1/1:-770.792,-111.77,0,.,.,.:428:9:403,.:11167,.:210 1/1:-1060.46,-147.301,0,.,.,.:551:6:517,.:14803,.:153 1/1:-607.573,-93.3469,0,.,.,.:341:4:321,.:8954,.:94 1/1:-854.554,-125.523,0,.,.,.:461:4:435,.:12225,.:109 0/1:-291.17,0,-205.931,.,.,.:418:175:207,.:5649,.:4540 1/1:-731.682,-105.476,0,.,.,.:398:8:375,.:10408,.:188 . 1/1:-869.711,-113.387,0,.,.,.:460:11:421,.:11920,.:261 1/1:-682.498,-93.0841,0,.,.,.:361:8:342,.:9610,.:201 1/1:-395.384,-61.5902,0,.,.,.:239:5:223,.:6263,.:120 0/1:-240.542,0,-242.522,.,.,.:382:177:171,.:4706,.:4776 0/1:-440.035,0,-363.511,.,.,.:636:286:301,.:8407,.:7582 1/1:-462.563,-62.4555,0,.,.,.:268:10:251,.:7062,.:202 0/1:-562.924,0,-470.728,.,.,.:841:382:403,.:11283,.:9985 1/1:-800.667,-113.986,0,.,.,.:437:8:411,.:11370,.:219 0/1:-127.299,0,-136.943,.,.,.:243:110:111,.:2966,.:2827 1/1:-483.805,-77.6155,0,.,.,.:278:2:259,.:7027,.:35 0/1:-328.284,0,-280.401,.,.,.:485:214:233,.:6505,.:5519 . 1/1:-928.774,-128.441,0,.,.,.:504:11:472,.:13026,.:295 1/1:-825.948,-111.675,0,.,.,.:439:9:407,.:11521,.:190 0/1:-99.5072,0,-75.6726,.,.,.:151:64:72,.:2076,.:1764 1/1:-757.258,-112.29,0,.,.,.:406:7:386,.:10701,.:129 0/1:-289.044,0,-266.239,.,.,.:444:211:202,.:5643,.:5359 1/1:-420.137,-69.2768,0,.,.,.:241:1:230,.:6320,.:27 1/1:-659.434,-94.1636,0,.,.,.:361:5:337,.:9118,.:104 1/1:-585.919,-92.21,0,.,.,.:325:4:307,.:8677,.:78 1/1:-1020.81,-150.026,0,.,.,.:565:10:521,.:14240,.:203 0/1:-286.652,0,-253.058,.,.,.:451:209:202,.:5715,.:5525 0/1:-319.839,0,-228.134,.,.,.:467:200:230,.:6272,.:5308 1/1:-862.549,-129.52,0,.,.,.:464:6:441,.:12190,.:123 0/1:-236.39,0,-296.983,.,.,.:489:241:202,.:5504,.:6224 . 1/1:-875.897,-123.894,0,.,.,.:451:3:430,.:12018,.:82 . 1/1:-621.871,-90.327,0,.,.,.:326:3:306,.:8368,.:42 1/1:-889.284,-128.335,0,.,.,.:475:8:444,.:12344,.:162 0/1:-247.698,0,-183.38,.,.,.:402:168:204,.:5109,.:4476 0/1:-336.198,0,-231.267,.,.,.:436:175:225,.:6341,.:4657 1/1:-763.485,-112.467,0,.,.,.:424:8:403,.:11125,.:177 1/1:-962.628,-145.335,0,.,.,.:546:9:501,.:13844,.:193 0/1:-234.951,0,-286.893,.,.,.:418:215:182,.:4970,.:5599 1/1:-764.981,-110.337,0,.,.,.:419:6:391,.:10997,.:166 1/1:-446.766,-63.7976,0,.,.,.:230:3:216,.:6137,.:80 0/1:-237.556,0,-165.387,.,.,.:308:134:154,.:4364,.:3464 1/1:-1093.97,-148.965,0,.,.,.:569:13:540,.:15247,.:284 1/1:-923.826,-134.216,0,.,.,.:514:7:481,.:13173,.:167 0/1:-176.001,0,-126.103,.,.,.:285:125:139,.:3964,.:3164 0/1:-291.481,0,-319.591,.,.,.:535:249:231,.:6344,.:6525 1/1:-900.048,-148.005,0,.,.,.:532:6:502,.:13618,.:97 0/1:-99.3594,0,-166.628,.,.,.:215:113:85,.:2293,.:3030 0/1:-267.029,0,-183.957,.,.,.:360:159:171,.:4859,.:4074 1/1:-867.256,-132.893,0,.,.,.:478:3:450,.:12285,.:55 0/1:-79.2873,0,-124.383,.,.,.:196:96:81,.:2231,.:2562 1/1:-527.777,-76.1085,0,.,.,.:301:5:280,.:7665,.:135 1/1:-782.385,-121.058,0,.,.,.:443:6:412,.:11241,.:126 1/1:-221.756,-40.5361,0,.,.,.:157:5:145,.:3875,.:77 1/1:-957.333,-138.917,0,.,.,.:503:4:477,.:13384,.:103 0/1:-237.213,0,-208.461,.,.,.:384:168:176,.:4772,.:4332 1/1:-367.84,-51.1449,0,.,.,.:224:7:205,.:5777,.:169 1/1:-986.935,-139.047,0,.,.,.:550:17:508,.:14184,.:376 1/1:-777.516,-106.118,0,.,.,.:409:10:383,.:10874,.:203 0/1:-101.638,0,-135.477,.,.,.:224:113:87,.:2535,.:2918 0/1:-272.56,0,-235.323,.,.,.:403:169:194,.:5484,.:4521 0/1:-184.59,0,-236.715,.,.,.:349:176:148,.:4005,.:4627 0/1:-345.782,0,-258.627,.,.,.:482:198:245,.:6918,.:5304 1/1:-771.718,-118.391,0,.,.,.:417:4:397,.:10880,.:91 1/1:-977.907,-136.322,0,.,.,.:530:10:495,.:14009,.:236 1/1:-835.799,-118.995,0,.,.,.:459:8:428,.:12010,.:209 0/1:-59.8443,0,-106.4,.,.,.:164:89:60,.:1719,.:2374 1/1:-665.596,-99.1147,0,.,.,.:351:1:335,.:9213,.:32 1/1:-864.151,-132.6,0,.,.,.:483:6:454,.:12453,.:91 1/1:-939.849,-140.945,0,.,.,.:504:6:480,.:13185,.:120 1/1:-733.368,-110.811,0,.,.,.:426:10:401,.:10987,.:249 1/1:-560.115,-78.6696,0,.,.,.:296:4:272,.:7651,.:89 0/1:-144.365,0,-217.483,.,.,.:284:150:106,.:2959,.:4034 0/1:-283.345,0,-230.452,.,.,.:438:200:198,.:5497,.:5108 0/1:-323.112,0,-279.253,.,.,.:535:243:245,.:6644,.:6219 1/1:-844.358,-119.488,0,.,.,.:451:7:428,.:11764,.:169 1/1:-694.501,-106.753,0,.,.,.:388:4:367,.:9977,.:91 0/1:-234.742,0,-190.017,.,.,.:374:164:181,.:4970,.:4265 0/1:-272.139,0,-214.632,.,.,.:405:163:198,.:5623,.:4394 1/1:-574.269,-78.6794,0,.,.,.:310:8:291,.:8222,.:178 1/1:-679.49,-99.0989,0,.,.,.:381:7:357,.:9707,.:174 1/1:-374.4,-53.4978,0,.,.,.:197:1:183,.:5179,.:21 0/1:-235.123,0,-242.354,.,.,.:401:182:189,.:5230,.:4907 0/1:-416.995,0,-349.421,.,.,.:615:275:288,.:8044,.:7126 0/1:-259.488,0,-224.202,.,.,.:412:186:193,.:5324,.:4742 . 1/1:-842.575,-117.032,0,.,.,.:467:9:432,.:12132,.:244 1/1:-912.751,-135.785,0,.,.,.:498:7:467,.:13001,.:118 . . . . . . . . 0/1:-359.279,0,-248.768,.,.,.:383:168:187,.:5655,.:4493:168,187 . 0/1:-283.626,0,-274.094,.,.,.:375:169:168,.:4753,.:4645:169,168 . . . . . . . 0/1:-317.155,0,-273.239,.,.,.:368:161:178,.:5143,.:4515:161,178 0/0:0,.,.,-53.8159,.,-702.776:375:324:.,37:.,680:9201:324,37 . chr14 23873021 . C T 10657.61 . AB=0.430716;ABP=75.2255;AC=9;AF=0.5;AN=18;AO=746;CIGAR=1X;DP=15069;DPB=1732;DPRA=0;EPP=65.0574;EPPR=68.4099;GTI=0;LEN=1;MEANALT=3;MQM=35.634;MQMR=35.5835;NS=1;NUMALT=1;ODDS=2332.34;PAIRED=0.932976;PAIREDR=0.935294;PAO=0;PQA=0;PQR=0;PRO=0;QA=18460;QR=24011;RO=850;RPL=340;RPP=15.6898;RPPR=11.0218;RPR=406;RUN=1;SAF=336;SAP=18.95;SAR=410;SF=0,1;SRF=364;SRP=41.0341;SRR=486;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0587;esp6500siv2_ea=0.0364;esp6500siv2_all=0.0587;esp6500siv2_ea=0.0364;1000g2015aug_all=0.0455272;avsnp147=rs11850295;Kaviar_AF=0.0289194;Kaviar_AC=4471;Kaviar_AN=154602;ExAC_ALL=0.0379;ExAC_AFR=0.1378;ExAC_AMR=0.0259;ExAC_EAS=0.0012;ExAC_FIN=0.0105;ExAC_NFE=0.0377;ExAC_OTH=0.0196;ExAC_SAS=0.0075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.3740;dpsi_zscore=-2.233;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0279;gnomAD_exome_AFR=0.1161;gnomAD_exome_AMR=0.0202;gnomAD_exome_ASJ=0.0245;gnomAD_exome_EAS=0.0007;gnomAD_exome_FIN=0.0073;gnomAD_exome_NFE=0.0340;gnomAD_exome_OTH=0.0239;gnomAD_exome_SAS=0.0065;gnomAD_genome_ALL=0.0485;gnomAD_genome_AFR=0.1120;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0294;gnomAD_genome_OTH=0.0265;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1031.8,0,-1432.84:1732:850:746:18460:24011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1139.41,0,-1477.35:1759:854:798:19916:24233 . . . 0/1:-1168.94,0,-1388.28:1682:799:777:19830:22783 . . . . . . . . . . . 0/1:-701.645,0,-749.86:973:448:464:11667:12735 . . . . 0/1:-1120.84,0,-1608.56:1843:914:792:19761:26012 0/1:-950.196,0,-1590.84:1703:879:702:17577:25240 . 0/1:-1467.81,0,-1998.91:1890:991:823:23373:29617:991,823 . . . . 0/1:-1370.05,0,-1884.45:1763:899:807:22033:27783:899,807 . . . . 0/1:-1350.54,0,-1841.82:1724:905:772:21547:27396:905,772 . . . . . . . . . chr14 23873532 . A G 7460.79 . AB=0.504537;ABP=3.20735;AC=1;AF=0.5;AN=2;AO=556;CIGAR=1X;DP=1102;DPB=1102;DPRA=0;EPP=5.25988;EPPR=7.73033;GTI=0;LEN=1;MEANALT=3;MQM=30.7842;MQMR=32.6248;NS=1;NUMALT=1;ODDS=1717.91;PAIRED=0.928058;PAIREDR=0.874251;PAO=0;PQA=0;PQR=0;PRO=0;QA=14458;QR=14716;RO=501;RPL=234;RPP=33.2547;RPPR=18.0979;RPR=322;RUN=1;SAF=258;SAP=9.25914;SAR=298;SF=0;SRF=236;SRP=6.65543;SRR=265;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon8:c.T708C:p.T236T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0625;dpsi_zscore=0.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-758.603,0,-792.188:1102:501:556:14458:14716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23873602 . G A 10891.20 . AB=0.463415;ABP=20.6469;AC=1;AF=0.5;AN=2;AO=703;CIGAR=1X;DP=1517;DPB=1517;DPRA=0;EPP=3.53232;EPPR=4.63467;GTI=0;LEN=1;MEANALT=3;MQM=33.9858;MQMR=34.2597;NS=1;NUMALT=1;ODDS=2507.79;PAIRED=0.904694;PAIREDR=0.85974;PAO=0;PQA=0;PQR=0;PRO=0;QA=19664;QR=22814;RO=770;RPL=343;RPP=3.90298;RPPR=4.37523;RPR=360;RUN=1;SAF=329;SAP=9.26525;SAR=374;SF=0;SRF=355;SRP=13.1626;SRR=415;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;1000g2015aug_all=.;avsnp147=rs199859986;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=9.614e-05;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=53709;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5754;dpsi_zscore=1.206;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS168767#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-1098.8,0,-1327.34:1517:770:703:19664:22814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23873940 . C T 9528.77 . AB=0.441821;ABP=55.3124;AC=2;AF=0.5;AN=4;AO=786;CIGAR=1X;DP=3608;DPB=1779;DPRA=0;EPP=30.6372;EPPR=46.2918;GTI=0;LEN=1;MEANALT=3;MQM=29.3448;MQMR=30.4586;NS=1;NUMALT=1;ODDS=2177.9;PAIRED=0.928753;PAIREDR=0.931873;PAO=0;PQA=0;PQR=0;PRO=0;QA=19460;QR=23327;RO=822;RPL=342;RPP=31.7533;RPPR=104.494;RPR=444;RUN=1;SAF=395;SAP=3.0545;SAR=391;SF=0;SRF=372;SRP=19.0824;SRR=450;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon7:c.G622A:p.D208N;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0069;1000g2015aug_all=0.00199681;avsnp147=rs142027794;Kaviar_AF=0.0053686;Kaviar_AC=830;Kaviar_AN=154602;ExAC_ALL=0.0055;ExAC_AFR=0.0014;ExAC_AMR=0.0022;ExAC_EAS=0.0001;ExAC_FIN=0.0005;ExAC_NFE=0.0082;ExAC_OTH=0.0044;ExAC_SAS=0.0042;CLNALLELEID=53708;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.072;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.967;MutationTaster_pred=D;MutationAssessor_score=0.47;MutationAssessor_pred=N;FATHMM_score=-0.57;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=3.478;CADD_phred=23.1;DANN_score=0.998;fathmm-MKL_coding_score=0.764;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.796;MetaSVM_pred=T;MetaLR_score=0.152;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=3.42;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.794;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.909;GDI_full_10282015=.;dpsi_max_tissue=-4.4518;dpsi_zscore=-2.418;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM165004#"Atrioventricular_septum_defect";gnomAD_exome_ALL=0.0048;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0080;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0058;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-960.014,0,-1203.23:1779:822:786:19460:23327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-981.882,0,-1258.48:1829:884:795:20411:24559 . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23874507 . G T 9114.43 . AB=0.426684;ABP=73.6965;AC=33;AF=0.5;AN=62;AO=646;CIGAR=1X;DP=38844;DPB=1514;DPRA=0;EPP=6.45239;EPPR=57.8528;GTI=0;LEN=1;MEANALT=3;MQM=27.8251;MQMR=29.9076;NS=1;NUMALT=1;ODDS=1661.67;PAIRED=0.936533;PAIREDR=0.937204;PAO=0;PQA=0;PQR=0;PRO=0;QA=17228;QR=24170;RO=844;RPL=321;RPP=3.06408;RPPR=12.9003;RPR=325;RUN=1;SAF=310;SAP=5.28261;SAR=336;SF=0,1;SRF=418;SRP=3.17496;SRR=426;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.C427A:p.R143R;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0809;esp6500siv2_ea=0.1095;esp6500siv2_all=0.0809;esp6500siv2_ea=0.1095;1000g2015aug_all=0.0776757;avsnp147=rs2277473;Kaviar_AF=0.0926443;Kaviar_AC=14323;Kaviar_AN=154602;ExAC_ALL=0.0951;ExAC_AFR=0.0200;ExAC_AMR=0.0621;ExAC_EAS=0.0562;ExAC_FIN=0.0920;ExAC_NFE=0.1055;ExAC_OTH=0.0837;ExAC_SAS=0.1455;CLNALLELEID=53674;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0699;dpsi_zscore=-1.511;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0959;gnomAD_exome_AFR=0.0193;gnomAD_exome_AMR=0.0697;gnomAD_exome_ASJ=0.1279;gnomAD_exome_EAS=0.0552;gnomAD_exome_FIN=0.0920;gnomAD_exome_NFE=0.1041;gnomAD_exome_OTH=0.1132;gnomAD_exome_SAS=0.1453;gnomAD_genome_ALL=0.0737;gnomAD_genome_AFR=0.0220;gnomAD_genome_AMR=0.0788;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.0525;gnomAD_genome_FIN=0.0910;gnomAD_genome_NFE=0.0996;gnomAD_genome_OTH=0.0818;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-736.152,0,-1258.54:1514:844:646:17228:24170 . . 0/1:-810.975,0,-810.872:1264:601:642:17759:17098 . 0/1:-665.801,0,-892.703:1186:615:545:14687:17872 0/1:-980.701,0,-1129.33:1543:760:752:20287:21730 . 0/1:-734.858,0,-839.895:1242:620:606:16244:17674 . . 0/1:-706.594,0,-719.548:1109:529:561:15444:15070 . . . . . . . . . . . 0/1:-1056.26,0,-994.743:1529:713:784:21492:20436 0/1:-462.612,0,-602.566:892:460:412:10904:12653 0/1:-800.996,0,-980.486:1298:657:619:16962:19155 . 0/1:-421.941,0,-621.363:890:461:407:10980:13211 . . 0/1:-830.124,0,-1253.19:1563:826:710:18837:23781 0/1:-851.853,0,-1120.83:1427:721:686:18674:21016 . . . . . . 0/1:-530.696,0,-841.269:1000:527:449:11674:15641 . . . 0/1:-669.749,0,-829.585:1101:563:522:14097:16133 . . . . . . . . . . . . . . . . 0/1:-455.537,0,-512.876:820:388:410:10997:11207 . 0/1:-729.508,0,-961.468:1230:631:579:15607:18088 0/1:-404.43,0,-544.42:830:408:408:10017:11217 0/1:-1098.74,0,-1023.71:1605:750:836:23173:21263 . . . . . 0/1:-663.282,0,-1132.34:1371:738:602:15545:21537 . . . 1/1:-1960.94,-257.205,0:1180:72:1082:29529:1366 . . . 0/1:-603.583,0,-574.911:919:429:478:12946:12010 0/1:-468.251,0,-562.197:804:403:387:10508:11707 . 0/1:-974.299,0,-1199.39:1664:825:807:21792:23425 . . . 0/1:-834.939,0,-959.237:1337:658:658:17581:19022 0/1:-657.567,0,-760.023:1029:507:498:13746:14752 0/1:-831.717,0,-1120:1449:776:650:17665:22482 . . 0/1:-1024.96,0,-1352.57:1791:898:866:23311:25894 . . . 0/1:-1000.2,0,-975.343:1541:734:784:21068:20770 . . . . . . . 0/1:-1130.38,0,-1244.07:1363:674:677:20074:20510:674,677 . . . . 1/1:-2528.98,-291.506,0:1129:26:1087:32705:562:26,1087 0/1:-1061.59,0,-1007.12:1224:590:627:18554:17322:590,627 . . . . . . . chr14 23874523 . C T 9902.43 . AB=0.442346;ABP=32.0554;AC=59;AF=0.5;AN=104;AO=445;CIGAR=1X;DP=65918;DPB=1006;DPRA=0;EPP=3.24941;EPPR=5.2495;GTI=0;LEN=1;MEANALT=3;MQM=28.6674;MQMR=28.7953;NS=1;NUMALT=1;ODDS=1248.11;PAIRED=0.937079;PAIREDR=0.863548;PAO=0;PQA=0;PQR=0;PRO=0;QA=11951;QR=15314;RO=513;RPL=268;RPP=43.4192;RPPR=24.3483;RPR=177;RUN=1;SAF=191;SAP=22.3779;SAR=254;SF=0,1;SRF=237;SRP=9.44853;SRR=276;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G411A:p.E137E;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.2284;esp6500siv2_ea=0.2608;esp6500siv2_all=0.2284;esp6500siv2_ea=0.2608;1000g2015aug_all=0.154353;avsnp147=rs2277474;Kaviar_AF=0.209881;Kaviar_AC=32448;Kaviar_AN=154602;ExAC_ALL=0.2103;ExAC_AFR=0.1607;ExAC_AMR=0.1136;ExAC_EAS=0.0563;ExAC_FIN=0.2141;ExAC_NFE=0.2607;ExAC_OTH=0.2015;ExAC_SAS=0.1855;CLNALLELEID=53671;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7987;dpsi_zscore=1.386;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2079;gnomAD_exome_AFR=0.1631;gnomAD_exome_AMR=0.1243;gnomAD_exome_ASJ=0.2999;gnomAD_exome_EAS=0.0554;gnomAD_exome_FIN=0.2118;gnomAD_exome_NFE=0.2581;gnomAD_exome_OTH=0.2333;gnomAD_exome_SAS=0.1876;gnomAD_genome_ALL=0.2169;gnomAD_genome_AFR=0.1728;gnomAD_genome_AMR=0.1492;gnomAD_genome_ASJ=0.3667;gnomAD_genome_EAS=0.0526;gnomAD_genome_FIN=0.2167;gnomAD_genome_NFE=0.2614;gnomAD_genome_OTH=0.2137;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-556.274,0,-754.563:1006:513:445:11951:15314 0/1:-682.817,0,-1305.97:1480:813:591:16040:24246 . . 0/1:-831.322,0,-747.29:1235:537:645:17294:16220 . 1/1:-1929.78,-264.426,0:1160:30:1051:28316:814 0/1:-953.962,0,-1111.95:1518:717:719:19444:21561 0/1:-759.679,0,-1035.98:1301:642:598:15846:19344 0/1:-756.468,0,-848.964:1264:609:597:16251:17836 . . 0/1:-660.87,0,-664.836:1067:477:521:14198:14477 1/1:-1504.83,-244.118,0:982:15:875:23307:336 . . . . . 0/1:-583.525,0,-677.616:960:452:461:12349:13588 . . . 0/1:-1066.57,0,-1236.47:1699:798:795:21591:23735 0/1:-1070.71,0,-1003.91:1534:680:783:21478:20539 0/1:-453.559,0,-603.828:897:432:421:10674:12795 0/1:-731.794,0,-939.009:1264:613:578:16009:18499 0/1:-865.516,0,-967.08:1310:601:642:17629:18164 0/1:-442.096,0,-632.843:917:463:410:10835:13812 . . 0/1:-837.611,0,-1215.13:1552:773:713:18799:23244 0/1:-834.938,0,-1143.3:1432:709:676:18261:21249 . 0/1:-759.279,0,-1018.03:1373:685:616:16447:20711 . . . . 1/1:-1658.91,-244.89,0:957:18:874:23459:283 0/1:-879.198,0,-1234.9:1511:746:694:18828:22815 . . 0/1:-636.652,0,-797.464:1081:525:504:13600:15651 . . 0/1:-894.693,0,-991.742:1413:666:674:18095:19784 . 0/1:-587.302,0,-806.636:1019:509:468:12119:15206 . . . . . . 0/1:-590.058,0,-737.636:991:495:448:12141:14474 0/1:-1063.52,0,-1106.89:1514:684:760:20719:20972 0/1:-461.096,0,-470.686:756:350:372:10001:10494 0/1:-584.141,0,-778.589:992:506:445:11867:14997 . 0/1:-476.568,0,-498.739:824:374:401:10710:11052 0/1:-1022.9,0,-1167.9:1654:793:778:21366:23492 0/1:-735.054,0,-1009.33:1245:609:583:15779:18668 0/1:-419.262,0,-564.154:809:381:382:9977:11352 0/1:-1046.74,0,-1050.51:1590:709:811:21813:21230 . . . . . 1/1:-2214.92,-318.269,0:1357:39:1211:32045:855 . . . 1/1:-1937.94,-293.599,0:1147:18:1040:28574:400 0/1:-916.601,0,-1236.23:1616:805:725:19431:24335 . 0/1:-841.453,0,-1160.88:1480:740:668:17937:22056 0/1:-585.122,0,-531.123:879:376:447:12146:11304 0/1:-448.822,0,-576.032:798:384:373:10092:11755 0/1:-829.624,0,-1144.89:1443:729:660:17532:22008 0/1:-978.678,0,-1174.08:1613:750:785:21108:22868 . . . 0/1:-807.286,0,-964.134:1322:636:625:16927:19318 0/1:-572.91,0,-803.876:1022:517:464:12347:15576 1/1:-2445.98,-354.27,0:1416:27:1297:35066:625 . . 0/1:-1023.54,0,-1398.2:1808:876:843:23087:26419 . . 0/1:-992.499,0,-1138.96:1565:733:749:19997:21925 0/1:-961.427,0,-1019.64:1534:699:747:20115:21034 . 0/1:-1303.25,0,-1276.09:1445:679:744:21754:21374:679,744 . . . . . 0/1:-1063.03,0,-1274.69:1328:652:649:18931:20816:652,649 0/1:-1261.55,0,-1286.15:1459:678:752:21518:21726:678,752 . . . 1/1:-2514.28,-318.663,0:1138:8:1093:32122:152:8,1093 0/1:-1004.32,0,-1116.54:1241:600:607:17851:18796:600,607 . . . . . . . chr14 23874541 . C T 8063.20 . AB=0.418755;ABP=73.9316;AC=21;AF=0.5;AN=40;AO=518;CIGAR=1X;DP=24455;DPB=1237;DPRA=0;EPP=35.4734;EPPR=6.95112;GTI=0;LEN=1;MEANALT=3;MQM=28.5309;MQMR=28.2756;NS=1;NUMALT=1;ODDS=1415.64;PAIRED=0.909266;PAIREDR=0.945185;PAO=0;PQA=0;PQR=0;PRO=0;QA=14354;QR=20837;RO=675;RPL=294;RPP=23.5513;RPPR=28.4921;RPR=224;RUN=1;SAF=245;SAP=6.29685;SAR=273;SF=0,1;SRF=337;SRP=3.01352;SRR=338;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G393A:p.L131L;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0803;esp6500siv2_ea=0.0884;esp6500siv2_all=0.0803;esp6500siv2_ea=0.0884;1000g2015aug_all=0.0571086;avsnp147=rs17277970;Kaviar_AF=0.0691712;Kaviar_AC=10694;Kaviar_AN=154602;ExAC_ALL=0.0699;ExAC_AFR=0.0601;ExAC_AMR=0.0399;ExAC_EAS=0.0146;ExAC_FIN=0.0487;ExAC_NFE=0.0824;ExAC_OTH=0.0870;ExAC_SAS=0.0827;CLNALLELEID=53662;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3398;dpsi_zscore=0.946;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0683;gnomAD_exome_AFR=0.0563;gnomAD_exome_AMR=0.0418;gnomAD_exome_ASJ=0.1102;gnomAD_exome_EAS=0.0128;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0829;gnomAD_exome_OTH=0.0762;gnomAD_exome_SAS=0.0824;gnomAD_genome_ALL=0.0710;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0561;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0862;gnomAD_genome_OTH=0.0723;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-632.942,0,-1046.8:1237:675:518:14354:20837 . . . . 0/1:-729.745,0,-987.212:1292:671:559:15603:20219 . . 0/1:-550.039,0,-874.801:1089:590:450:12403:18162 . . 0/1:-1138.41,0,-1476.32:1832:925:830:23549:28393 . . . . . . . . . . 0/1:-689.27,0,-1031.92:1241:656:530:14566:20570 . . . 0/1:-672.667,0,-813.821:1056:518:488:13716:16093 . . . . . . . . . . . . 0/1:-667.706,0,-887.125:1099:567:494:13387:17604 . . . 0/1:-409,0,-613.282:710:368:314:8542:11439 . . . 0/1:-441.49,0,-897.597:1053:575:403:11107:17088 . . . . . . . . . 0/1:-935.813,0,-1325.87:1617:837:711:19614:25984 . . . 0/1:-966.175,0,-1050.87:1391:661:672:18815:20464 . 0/1:-764.246,0,-1102.6:1281:645:566:15575:20078 . . . . . . . 0/1:-944.569,0,-1234.94:1576:810:712:19984:24894 . . . . . . . 1/1:-1725.46,-249.055,0:1009:24:909:25360:598 . . . . 0/1:-440.114,0,-511.704:697:323:327:8970:9915 . . . . . . . . . . . . . . . 0/1:-1105.3,0,-1163.91:1240:598:614:18526:19259:598,614 . . . 0/1:-982.288,0,-1146.91:1243:633:588:17125:19743:633,588 0/1:-981.08,0,-1230.39:1235:633:573:16752:19907:633,573 0/1:-1103.48,0,-1463.58:1438:748:659:19462:23696:748,659 . . 0/1:-866.876,0,-1201.96:1119:593:496:14932:19176:593,496 . . chr14 23876216 . G A 4290.26 . AB=0.419467;ABP=51.6256;AC=9;AF=0.5;AN=18;AO=362;CIGAR=1X;DP=7284;DPB=863;DPRA=0;EPP=3.03429;EPPR=6.84461;GTI=0;LEN=1;MEANALT=3;MQM=35.2459;MQMR=34.4505;NS=1;NUMALT=1;ODDS=939.332;PAIRED=0.975138;PAIREDR=0.95045;PAO=0;PQA=0;PQR=0;PRO=0;QA=8633;QR=13174;RO=444;RPL=63;RPP=337.105;RPPR=172.209;RPR=299;RUN=1;SAF=229;SAP=58.2929;SAR=133;SF=0,1;SRF=321;SRP=194.745;SRR=123;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0656;esp6500siv2_ea=0.0364;esp6500siv2_all=0.0656;esp6500siv2_ea=0.0364;1000g2015aug_all=0.0497204;avsnp147=rs7147244;Kaviar_AF=0.0310992;Kaviar_AC=4808;Kaviar_AN=154602;ExAC_ALL=0.0311;ExAC_AFR=0.1379;ExAC_AMR=0.0172;ExAC_EAS=0.0002;ExAC_FIN=0.0065;ExAC_NFE=0.0298;ExAC_OTH=0.0155;ExAC_SAS=0.0062;CLNALLELEID=254923;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0529;dpsi_zscore=-0.278;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0288;gnomAD_exome_AFR=0.1330;gnomAD_exome_AMR=0.0201;gnomAD_exome_ASJ=0.0246;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0072;gnomAD_exome_NFE=0.0329;gnomAD_exome_OTH=0.0239;gnomAD_exome_SAS=0.0059;gnomAD_genome_ALL=0.0548;gnomAD_genome_AFR=0.1338;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0297;gnomAD_genome_OTH=0.0266;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-459.21,0,-796.004:863:444:362:8633:13174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-504.5,0,-891.978:970:502:401:9704:14561 . . . 0/1:-467.091,0,-761.668:869:423:381:8818:12792 . . . . . . . . . . . 0/1:-331.857,0,-289.548:474:197:245:5657:5709 . . . . 0/1:-493.601,0,-673.397:864:405:406:9122:11898 0/1:-483.627,0,-750.903:875:436:377:8896:12894 . 0/1:-559.307,0,-756.091:774:384:359:9425:11650:384,359 . . . . 0/1:-615.525,0,-814.326:830:406:390:10077:12326:406,390 . . . . 0/1:-463.28,0,-919.25:765:429:312:8291:13408:429,312 . . . . . . . . . chr14 23876267 . C T 8542.06 . AB=0.463696;ABP=16.8848;AC=20;AF=0.5;AN=38;AO=562;CIGAR=1X;DP=20494;DPB=1212;DPRA=0;EPP=3.02576;EPPR=13.9399;GTI=0;LEN=1;MEANALT=3;MQM=34.0854;MQMR=34.8636;NS=1;NUMALT=1;ODDS=1954.83;PAIRED=0.925267;PAIREDR=0.906822;PAO=0;PQA=0;PQR=0;PRO=0;QA=15668;QR=17956;RO=601;RPL=144;RPP=293.091;RPPR=166.933;RPR=418;RUN=1;SAF=312;SAP=17.8629;SAR=250;SF=0,1;SRF=307;SRP=3.62091;SRR=294;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon3:c.G166A:p.G56R;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0802;esp6500siv2_ea=0.0883;esp6500siv2_all=0.0802;esp6500siv2_ea=0.0883;1000g2015aug_all=0.0567093;avsnp147=rs28711516;Kaviar_AF=0.0673342;Kaviar_AC=10410;Kaviar_AN=154602;ExAC_ALL=0.0698;ExAC_AFR=0.0601;ExAC_AMR=0.0396;ExAC_EAS=0.0146;ExAC_FIN=0.0487;ExAC_NFE=0.0824;ExAC_OTH=0.0870;ExAC_SAS=0.0825;CLNALLELEID=53622;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.44;MutationAssessor_pred=M;FATHMM_score=-2.18;FATHMM_pred=D;PROVEAN_score=-4.76;PROVEAN_pred=D;VEST3_score=0.158;CADD_raw=5.156;CADD_phred=25.4;DANN_score=0.999;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.339;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=3.53;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.971;SiPhy_29way_logOdds=10.491;GDI_full_10282015=.;dpsi_max_tissue=0.3171;dpsi_zscore=0.915;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM122341#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0682;gnomAD_exome_AFR=0.0561;gnomAD_exome_AMR=0.0410;gnomAD_exome_ASJ=0.1102;gnomAD_exome_EAS=0.0128;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0829;gnomAD_exome_OTH=0.0767;gnomAD_exome_SAS=0.0822;gnomAD_genome_ALL=0.0707;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0537;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0.0092;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0860;gnomAD_genome_OTH=0.0704;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-889.017,0,-1067.56:1212:601:562:15668:17956 . . . . 0/1:-931.906,0,-1236.16:1349:686:599:16835:20458 . . 0/1:-827.504,0,-897.89:1039:499:499:14035:14983 . . . . . . . . . . . . . 0/1:-697.116,0,-1131.69:1100:599:457:13005:17944 . . . 0/1:-614.083,0,-882.964:927:477:400:11169:14431 . . . . . . . . . . . . 0/1:-818.523,0,-958.011:1043:522:484:14010:15514 . . . 0/1:-555.451,0,-569.171:677:322:325:9302:9521 . . . 0/1:-721.355,0,-845.38:1020:494:473:13278:14591 . . . . . . . . . 0/1:-994.333,0,-1427.25:1489:768:642:17725:22951 . . . 0/1:-828.491,0,-1240.77:1238:659:531:14969:19702 . 0/1:-835.659,0,-1077.09:1173:593:524:14710:17677 . . . . . . . 0/1:-962.5,0,-1239.38:1364:693:600:16997:20372 . . . . . . . 1/1:-2015.37,-243.634,0:1011:20:921:26185:466 . . . . 0/1:-369.283,0,-651.379:644:356:261:7255:10529 . . . . . . . . . . . . . . . 0/1:-927.742,0,-1068.49:1021:523:479:14614:16336:523,479 . . . 0/1:-970.708,0,-935.575:973:469:486:14779:14414:469,486 0/1:-878.332,0,-1051.87:977:498:445:13699:15790:498,445 0/1:-1141.88,0,-1241.74:1224:609:591:17683:18843:609,591 . . 0/1:-978.183,0,-996.085:1013:491:493:14988:15189:491,493 . . chr14 23882144 . T C,G 8310.10 . AB=0.510667;ABP=3.7515;AC=93,0;AF=0.5;AN=154;AO=383;CIGAR=1X;DP=68982;DPB=750;DPRA=0;EPP=5.05704;EPPR=3.81381;GTI=0;LEN=1;MEANALT=3;MQM=29.0131;MQMR=31.5046;NS=1;NUMALT=1;ODDS=961.572;PAIRED=0.712794;PAIREDR=0.782875;PAO=0;PQA=0;PQR=0;PRO=0;QA=10352;QR=8985;RO=327;RPL=297;RPP=255.428;RPPR=170.891;RPR=86;RUN=1;SAF=170;SAP=13.4935;SAR=213;SF=0,1;SRF=164;SRP=3.01694;SRR=163;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.4647;esp6500siv2_ea=0.3705;esp6500siv2_all=0.4647;esp6500siv2_ea=0.3705;1000g2015aug_all=0.384385;avsnp147=rs2284651;Kaviar_AF=0.0711246;Kaviar_AC=10996;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4369;gnomAD_genome_AFR=0.6912;gnomAD_genome_AMR=0.2745;gnomAD_genome_ASJ=0.4733;gnomAD_genome_EAS=0.1384;gnomAD_genome_FIN=0.2822;gnomAD_genome_NFE=0.3720;gnomAD_genome_OTH=0.3391;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-527.175,0,-443,.,.,.:750:327:383,.:10352,.:8985 0/1:-651.958,0,-751.534,.,.,.:1053:510:474,.:13213,.:14106 . . 1/1:-1599.96,-225.654,0,.,.,.:860:19:812,.:22448,.:488 . 1/1:-1382.44,-197.19,0,.,.,.:741:8:691,.:18971,.:197 . 1/1:-1572.44,-214.307,0,.,.,.:838:16:797,.:21681,.:435 1/1:-1813.45,-257.4,0,.,.,.:938:14:897,.:24965,.:300 . 0/1:-643.239,0,-567.26,.,.,.:882:393:439,.:11776,.:11086 1/1:-1501.26,-211.64,0,.,.,.:823:15:778,.:21264,.:397 1/1:-930.158,-131.727,0,.,.,.:532:17:493,.:13558,.:398 . . . . . 0/1:-345.118,0,-388.693,.,.,.:542:268:244,.:6877,.:7434 . . . 0/1:-735.777,0,-1038.42,.,.,.:1227:621:542,.:14932,.:18034 0/1:-760.436,0,-812.89,.,.,.:1139:536:532,.:14662,.:15212 0/1:-358.316,0,-477.445,.,.,.:634:320:275,.:7528,.:8906 0/1:-584.657,0,-708.436,.,.,.:946:464:416,.:11566,.:12918 0/1:-583.926,0,-679.224,.,.,.:930:456:421,.:11769,.:12794 0/1:-361.068,0,-436.491,.,.,.:614:312:266,.:7367,.:8227 0/1:-482.745,0,-471.736,.,.,.:709:318:343,.:9648,.:9092 0/1:-442.005,0,-600.359,.,.,.:737:374:321,.:8893,.:10632 0/1:-803.667,0,-808.735,.,.,.:1158:529:561,.:15392,.:14799 0/1:-626.95,0,-798.249,.,.,.:1014:511:444,.:12301,.:14314 0/1:-697.106,0,-614.135,.,.,.:948:398:481,.:12833,.:11352 0/1:-677.97,0,-641.253,.,.,.:947:427:471,.:12947,.:12213 . . . . 1/1:-1350.57,-198.849,0,.,.,.:698:3:671,.:18635,.:64 0/1:-737.674,0,-715.943,.,.,.:1073:483:531,.:14835,.:13398 . . 0/1:-529.496,0,-596.001,.,.,.:828:396:379,.:10394,.:11101 0/1:-832.686,0,-852.023,.,.,.:1179:547:573,.:15768,.:15399 0/1:-601.893,0,-779.962,.,.,.:1025:502:457,.:12096,.:14080 0/1:-586.576,0,-685.654,.,.,.:922:442:429,.:11690,.:12527 0/1:-364.845,0,-352.843,.,.,.:535:246:252,.:6882,.:6913 0/1:-438.907,0,-534.803,.,.,.:700:349:306,.:8298,.:9902 . . 0/1:-435.262,0,-394.392,.,.,.:684:303:343,.:9486,.:8215 0/1:-758.903,0,-925.442,.,.,.:1191:581:528,.:14720,.:16402 . . 0/1:-626.987,0,-544.257,.,.,.:833:368:421,.:11889,.:10608 1/1:-1994.11,-280.376,0,.,.,.:1030:12:993,.:27567,.:259 0/1:-329.275,0,-312.198,.,.,.:469:215:225,.:6231,.:5899 0/1:-501.467,0,-396.985,.,.,.:642:284:332,.:9293,.:7866 . 0/1:-284.16,0,-321.879,.,.,.:456:226:208,.:5629,.:6111 1/1:-2219.87,-322.103,0,.,.,.:1140:9:1104,.:30792,.:198 0/1:-542.283,0,-625.656,.,.,.:857:410:394,.:10907,.:11439 0/1:-376.249,0,-362.768,.,.,.:579:267:271,.:7653,.:7431 0/1:-833.465,0,-885.808,.,.,.:1256:599:589,.:16342,.:16937 0/1:-620.031,0,-971.946,.,.,.:1151:604:481,.:12768,.:16892 . 0/1:-640.476,0,-598.761,.,.,.:909:420:447,.:12444,.:11798 0/1:-610.827,0,-625.949,.,.,.:931:429:443,.:11935,.:12074 . 1/1:-1778.28,-248.861,0,.,.,.:955:14:913,.:25089,.:417 . 1/1:-1810.62,-246.488,0,.,.,.:948:12:897,.:24520,.:349 . 0/1:-583.493,0,-669.048,.,.,.:886:426:412,.:11331,.:12044 1/1:-2097.4,-288.265,0,.,.,.:1112:25:1061,.:29074,.:608 0/1:-717.722,0,-780.581,.,.,.:1066:518:482,.:13736,.:14766 0/1:-675.265,0,-860.258,.,.,.:1118:553:497,.:13706,.:15349 0/1:-397.52,0,-439.567,.,.,.:623:296:282,.:7933,.:8073 0/1:-332.722,0,-307.544,.,.,.:470:209:243,.:6558,.:6052 0/1:-596.614,0,-641.707,.,.,.:948:446:440,.:11935,.:12161 0/1:-711.962,0,-793.912,.,.,.:1089:519:502,.:14093,.:14464 . 1/1:-1607.31,-228.064,0,.,.,.:865:13:818,.:22593,.:355 . 0/1:-638.646,0,-630.066,.,.,.:919:424:433,.:11953,.:11747 1/1:-1194.63,-171.267,0,.,.,.:629:6:598,.:16442,.:159 1/1:-1770.44,-232.606,0,.,.,.:958:22:897,.:24700,.:571 1/1:-926.071,-135.031,0,.,.,.:487:4:471,.:13096,.:94 . . 0/1:-593.689,0,-732.595,.,.,.:979:482:452,.:11911,.:13512 0/1:-742.539,0,-959.598,.,.,.:1191:615:530,.:14559,.:17195 1/1:-1999.19,-265.637,0,.,.,.:1028:19:971,.:27469,.:457 0/1:-701.115,0,-774.718,.,.,.:1071:498:515,.:14086,.:14000 . 1/1:-2174.87,-264.846,0,.,.,.:946:7:924,.:27339,.:186:7,924 . 0/0:0,.,.,-229.765,.,-2313.3:1100:997:.,64:.,1128:29422:997,64 . 0/0:0,.,.,-179.789,.,-1777.26:841:774:.,45:.,817:22520:774,45 0/1:-1022.23,0,-842.555,.,.,.:1084:487:550,.:16547,.:14100:487,550 0/1:-744.307,0,-838.643,.,.,.:897:451:411,.:12530,.:13219:451,411 0/1:-906.465,0,-856.902,.,.,.:1031:488:507,.:15145,.:14340:488,507 0/1:-886.996,0,-774.366,.,.,.:972:437:494,.:14619,.:12836:437,494 . 0/1:-955.431,0,-936.802,.,.,.:1127:546:538,.:16040,.:15570:546,538 0/1:-690.64,0,-719.71,.,.,.:813:401:380,.:11423,.:11752:401,380 1/1:-2036.08,-248.351,0,.,.,.:891:10:870,.:25994,.:271:10,870 0/1:-664.154,0,-830.275,.,.,.:877:444:384,.:11342,.:13145:444,384 0/1:-1020.44,0,-887.498,.,.,.:1093:505:554,.:16869,.:14659:505,554 0/0:0,.,.,-229.945,.,-2144.33:1044:958:.,61:.,1002:27441:958,61 . 0/1:-830.544,0,-701.914,.,.,.:874:401:436,.:13374,.:11704:401,436 . . chr14 23883021 . C G 4846.87 . AB=0.526462;ABP=7.37744;AC=1;AF=0.5;AN=2;AO=378;CIGAR=1X;DP=718;DPB=718;DPRA=0;EPP=8.89281;EPPR=3.11495;GTI=0;LEN=1;MEANALT=3;MQM=28.2487;MQMR=30.5994;NS=1;NUMALT=1;ODDS=1116.03;PAIRED=0.859788;PAIREDR=0.885542;PAO=0;PQA=0;PQR=0;PRO=0;QA=10432;QR=10283;RO=332;RPL=240;RPP=62.7775;RPPR=29.8005;RPR=138;RUN=1;SAF=173;SAP=8.89281;SAR=205;SF=0;SRF=168;SRP=3.11495;SRR=164;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon39:c.G5737C:p.A1913P;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.982;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4;MutationAssessor_pred=H;FATHMM_score=-1.55;FATHMM_pred=D;PROVEAN_score=-3.49;PROVEAN_pred=D;VEST3_score=0.928;CADD_raw=7.274;CADD_phred=34;DANN_score=0.997;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=0.915;MetaSVM_pred=D;MetaLR_score=0.830;MetaLR_pred=D;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.974;SiPhy_29way_logOdds=19.197;GDI_full_10282015=.;dpsi_max_tissue=-0.9038;dpsi_zscore=-1.412;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-500.229,0,-512.596:718:332:378:10432:10283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23883184 . C T 8745.01 . AB=0.425887;ABP=48.7155;AC=28;AF=0.5;AN=52;AO=408;CIGAR=1X;DP=30646;DPB=958;DPRA=0;EPP=20.9143;EPPR=13.8677;GTI=0;LEN=1;MEANALT=3;MQM=30.2549;MQMR=29.214;NS=1;NUMALT=1;ODDS=1246.36;PAIRED=0.909314;PAIREDR=0.86;PAO=0;PQA=0;PQR=0;PRO=0;QA=11557;QR=14893;RO=500;RPL=179;RPP=16.3159;RPPR=3.44459;RPR=229;RUN=1;SAF=250;SAP=48.0577;SAR=158;SF=0,1;SRF=282;SRP=20.799;SRR=218;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.2068;esp6500siv2_ea=0.1524;esp6500siv2_all=0.2068;esp6500siv2_ea=0.1524;1000g2015aug_all=0.134984;avsnp147=rs3729833;Kaviar_AF=0.133963;Kaviar_AC=20711;Kaviar_AN=154602;ExAC_ALL=0.1324;ExAC_AFR=0.3212;ExAC_AMR=0.0625;ExAC_EAS=0.0002;ExAC_FIN=0.1057;ExAC_NFE=0.1570;ExAC_OTH=0.1294;ExAC_SAS=0.0429;CLNALLELEID=254924;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.5927;dpsi_zscore=-1.754;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1251;gnomAD_exome_AFR=0.3223;gnomAD_exome_AMR=0.0686;gnomAD_exome_ASJ=0.1726;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1046;gnomAD_exome_NFE=0.1562;gnomAD_exome_OTH=0.1306;gnomAD_exome_SAS=0.0446;gnomAD_genome_ALL=0.1906;gnomAD_genome_AFR=0.3171;gnomAD_genome_AMR=0.0778;gnomAD_genome_ASJ=0.2152;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1075;gnomAD_genome_NFE=0.1659;gnomAD_genome_OTH=0.1449;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-558.056,0,-743.087:958:500:408:11557:14893 . . . . . 0/1:-538.443,0,-789.31:1020:520:437:12139:15454 . 1/1:-1952.83,-271.565,0:1074:27:995:27592:581 . . . . 1/1:-1492.9,-223.079,0:885:19:808:22909:477 . . . . . 0/1:-542.705,0,-538.163:885:403:433:11925:11899 . . . 0/1:-913.188,0,-1139.02:1466:732:667:18879:21720 . . . 0/1:-639.945,0,-974.038:1150:613:491:14034:18086 . . . . . . 0/1:-595.405,0,-962.078:1099:581:462:12706:17752 . . . . 0/1:-510.405,0,-692.894:881:449:385:10670:13133 0/1:-776.607,0,-1137.82:1368:712:597:16585:21225 . . . . . 0/1:-797.968,0,-917.901:1291:627:605:16888:18718 . 0/1:-506.359,0,-666.275:845:433:372:10703:13040 . . . 0/1:-859.07,0,-1216.65:1479:750:657:18382:22666 . . 0/1:-498.703,0,-851.231:964:541:389:11109:15931 0/1:-924.102,0,-1040.22:1425:685:687:18797:20409 0/1:-319.415,0,-412.389:620:317:275:7580:9036 0/1:-456.201,0,-870.409:933:532:364:10358:15944 . . 0/1:-1047.59,0,-1089.22:1573:748:756:21536:22150 . . . . . . . . 0/1:-684.729,0,-844.293:1160:569:526:14348:16907 . . . . 0/1:-817.571,0,-1140.32:1452:748:624:17236:22225 . 0/1:-751.643,0,-1027.1:1337:681:595:16820:20204 . . 0/1:-717.263,0,-930.75:1270:632:576:15846:18796 . . . . . . 0/1:-738.935,0,-969.778:1300:668:576:16061:19646 . . . . 0/1:-854.09,0,-1124.98:1436:727:645:17997:21473 0/1:-742.864,0,-1072.96:1338:699:579:15912:20728 . . . . . . . . . 0/1:-1454.74,0,-1371.01:1437:695:726:22982:21949:695,726 . . . . . . . . . . . . chr14 23884353 . C T 3002.01 . AB=0.422956;ABP=68.5915;AC=1;AF=0.5;AN=2;AO=538;CIGAR=1X;DP=1272;DPB=1272;DPRA=0;EPP=71.222;EPPR=117.56;GTI=0;LEN=1;MEANALT=3;MQM=18.1561;MQMR=20.6522;NS=1;NUMALT=1;ODDS=691.239;PAIRED=0.968401;PAIREDR=0.970149;PAO=0;PQA=0;PQR=0;PRO=0;QA=13939;QR=19866;RO=670;RPL=296;RPP=14.7798;RPPR=13.913;RPR=242;RUN=1;SAF=248;SAP=10.1301;SAR=290;SF=0;SRF=307;SRP=13.1741;SRR=363;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon37:c.G5410A:p.A1804T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730880818;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=179479;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.235;MutationAssessor_pred=M;FATHMM_score=-1.15;FATHMM_pred=T;PROVEAN_score=-2.8;PROVEAN_pred=D;VEST3_score=0.648;CADD_raw=7.265;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=0.586;MetaSVM_pred=D;MetaLR_score=0.714;MetaLR_pred=D;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.075;GDI_full_10282015=.;dpsi_max_tissue=-0.0224;dpsi_zscore=-0.119;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.952e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-320.131,0,-670.605:1272:670:538:13939:19866 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23884889 . C T 12014.89 . AB=0.454769;ABP=39.1545;AC=29;AF=0.5;AN=52;AO=925;CIGAR=1X;DP=46570;DPB=2034;DPRA=0;EPP=90.4537;EPPR=129.543;GTI=0;LEN=1;MEANALT=3;MQM=27.3297;MQMR=29.2397;NS=1;NUMALT=1;ODDS=2337.17;PAIRED=0.92973;PAIREDR=0.922636;PAO=0;PQA=0;PQR=0;PRO=0;QA=26059;QR=31484;RO=1047;RPL=498;RPP=14.8442;RPPR=27.6514;RPR=427;RUN=1;SAF=546;SAP=68.4808;SAR=379;SF=0,1;SRF=602;SRP=54.1322;SRR=445;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G5106A:p.A1702A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.1606;esp6500siv2_ea=0.1317;esp6500siv2_all=0.1606;esp6500siv2_ea=0.1317;1000g2015aug_all=0.117612;avsnp147=rs3729830;Kaviar_AF=0.10853;Kaviar_AC=16779;Kaviar_AN=154602;ExAC_ALL=0.1070;ExAC_AFR=0.2320;ExAC_AMR=0.0588;ExAC_EAS=0.0153;ExAC_FIN=0.0745;ExAC_NFE=0.1175;ExAC_OTH=0.1051;ExAC_SAS=0.0809;CLNALLELEID=52226;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1182;dpsi_zscore=-0.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1037;gnomAD_exome_AFR=0.2273;gnomAD_exome_AMR=0.0651;gnomAD_exome_ASJ=0.1267;gnomAD_exome_EAS=0.0138;gnomAD_exome_FIN=0.0734;gnomAD_exome_NFE=0.1224;gnomAD_exome_OTH=0.1057;gnomAD_exome_SAS=0.0812;gnomAD_genome_ALL=0.1409;gnomAD_genome_AFR=0.2333;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.0123;gnomAD_genome_FIN=0.0799;gnomAD_genome_NFE=0.1213;gnomAD_genome_OTH=0.1041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1041.71,0,-1513.85:2034:1047:925:26059:31484 . . 0/1:-971.351,0,-1286.5:1733:883:792:22062:26953 . . . . 0/1:-1064.53,0,-1106.52:1768:822:887:24447:24470 . . 0/1:-924.671,0,-1032.99:1556:751:748:20841:22360 . . . . . . . . . . . . . 0/1:-1020,0,-1296.14:1737:883:808:22476:26333 . . . 0/1:-773.465,0,-1179.81:1488:784:652:18556:23662 . . . . . . . . . . . . . . . . 0/1:-533.882,0,-745.294:969:504:432:11972:15281 . . . 0/1:-889.323,0,-1138.52:1628:808:752:20270:24230 . . . . . . . . . 0/1:-1161.08,0,-1573.29:2088:1077:951:25885:32257 . . . 0/1:-958.661,0,-1381.33:1779:921:808:21851:27731 . 0/1:-816.605,0,-1237.58:1575:834:698:19220:25006 . . . . 0/1:-1017.44,0,-1460.66:1940:988:895:24582:29905 . . 0/1:-1232.43,0,-1382.46:2098:1025:997:27504:30249 0/1:-989.857,0,-1380.32:1830:954:829:22805:28434 . . . . . . 1/1:-2683.73,-396.212,0:1593:40:1474:40496:1042 . . . . 1/1:-1712.43,-264.456,0:977:17:917:25547:393 . . . . 0/1:-971.885,0,-1545.54:1872:1002:817:22611:29835 0/1:-1085.99,0,-1484.6:1915:961:884:24647:28900 . 1/1:-4697.44,-572.562,0:2182:36:2124:66371:1088:36,2124 . . . . 0/1:-1726.84,0,-1848.7:2247:1130:1095:34456:35218:1130,1095 . . 0/1:-1437.86,0,-1632.98:1886:951:914:28745:30076:951,914 . 0/1:-1324.64,0,-2006:2097:1158:916:29054:36293:1158,916 . 0/1:-1294.65,0,-1540.04:1793:919:848:26642:28682:919,848 0/1:-1281.44,0,-1611.92:1840:965:861:27226:30308:965,861 0/1:-1698.21,0,-1861.6:2243:1118:1093:34376:35419:1118,1093 . . 0/1:-1266.17,0,-1483.08:1702:873:812:25510:27663:873,812 . . chr14 23885441 . C T 2073.95 . AB=0.432647;ABP=52.7374;AC=1;AF=0.5;AN=2;AO=546;CIGAR=1X;DP=1262;DPB=1262;DPRA=0;EPP=3.7898;EPPR=6.98217;GTI=0;LEN=1;MEANALT=3;MQM=14.641;MQMR=15.4351;NS=1;NUMALT=1;ODDS=477.544;PAIRED=0.913919;PAIREDR=0.886076;PAO=0;PQA=0;PQR=0;PRO=0;QA=14131;QR=19267;RO=632;RPL=258;RPP=6.58965;RPPR=46.1099;RPR=288;RUN=1;SAF=224;SAP=41.2059;SAR=322;SF=0;SRF=255;SRP=54.1498;SRR=377;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon34:c.G4725A:p.K1575K;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs45476496;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.472e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.497e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=175592;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0765;dpsi_zscore=-0.372;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.844e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.375e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-221.061,0,-425.537:1262:632:546:14131:19267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23886053 . C A 8069.99 . AB=0.466786;ABP=13.6844;AC=2;AF=0.5;AN=4;AO=520;CIGAR=1X;DP=2286;DPB=1114;DPRA=0;EPP=3.16063;EPPR=3.0702;GTI=0;LEN=1;MEANALT=3;MQM=33.6731;MQMR=34.8017;NS=1;NUMALT=1;ODDS=1711.7;PAIRED=0.878846;PAIREDR=0.87931;PAO=0;PQA=0;PQR=0;PRO=0;QA=14257;QR=17613;RO=580;RPL=206;RPP=51.7181;RPPR=46.6794;RPR=314;RUN=1;SAF=359;SAP=166.723;SAR=161;SF=0,1;SRF=404;SRP=197.634;SRR=176;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0031;1000g2015aug_all=0.00179712;avsnp147=rs3729826;Kaviar_AF=0.002846;Kaviar_AC=440;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0005;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0059;ExAC_NFE=0.0041;ExAC_OTH=0.0022;ExAC_SAS=0.0008;CLNALLELEID=186472;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4007;dpsi_zscore=-0.984;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0029;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0051;gnomAD_exome_NFE=0.0043;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0072;gnomAD_genome_NFE=0.0061;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-773.75,0,-1049.94:1114:580:520:14257:17613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1140.9,0,-1159.8:1172:577:592:17590:17700:577,592 . . . . . . . . . . . . . . . . . . chr14 23886155 . A G 9304.38 . AB=0.438749;ABP=40.5177;AC=4;AF=0.5;AN=8;AO=505;CIGAR=1X;DP=6482;DPB=1151;DPRA=0;EPP=35.5566;EPPR=3.63335;GTI=0;LEN=1;MEANALT=3;MQM=30.8713;MQMR=31.6842;NS=1;NUMALT=1;ODDS=1434.12;PAIRED=0.89901;PAIREDR=0.78438;PAO=0;PQA=0;PQR=0;PRO=0;QA=12844;QR=17540;RO=589;RPL=330;RPP=106.316;RPPR=103.381;RPR=175;RUN=1;SAF=261;SAP=4.25298;SAR=244;SF=0,1;SRF=294;SRP=3.01399;SRR=295;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon33:c.T4566C:p.T1522T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0054;esp6500siv2_ea=0.0067;esp6500siv2_all=0.0054;esp6500siv2_ea=0.0067;1000g2015aug_all=0.0111821;avsnp147=rs2754155;Kaviar_AF=0.0119339;Kaviar_AC=1845;Kaviar_AN=154602;ExAC_ALL=0.0127;ExAC_AFR=0.0026;ExAC_AMR=0.0325;ExAC_EAS=0.0002;ExAC_FIN=0.0135;ExAC_NFE=0.0086;ExAC_OTH=0.0088;ExAC_SAS=0.0284;CLNALLELEID=52197;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3425;dpsi_zscore=0.950;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0136;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0320;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0122;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0284;gnomAD_genome_ALL=0.0103;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0138;gnomAD_genome_NFE=0.0142;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-646.066,0,-947.085:1151:589:505:12844:17540 . . . . 0/1:-938.963,0,-1014.11:1187:569:586:15866:16994 . . . . . . . . . . . . . . . . . . . 0/1:-1853.3,0,-2684.52:2301:1257:998:29610:39300:1257,998 . 0/1:-1607.14,0,-1971.22:1843:940:856:25217:29522:940,856 . . . . . . . . . . . . . . . chr14 23886226 . G A 11335.85 . AB=0.463186;ABP=11.8037;AC=2;AF=0.5;AN=4;AO=346;CIGAR=1X;DP=3391;DPB=747;DPRA=0;EPP=19.9804;EPPR=4.55446;GTI=0;LEN=1;MEANALT=3;MQM=33.9855;MQMR=34.0778;NS=1;NUMALT=1;ODDS=1269.78;PAIRED=0.945087;PAIREDR=0.897222;PAO=0;PQA=0;PQR=0;PRO=0;QA=9729;QR=10809;RO=360;RPL=199;RPP=19.9804;RPPR=20.5992;RPR=147;RUN=1;SAF=146;SAP=21.3109;SAR=200;SF=0;SRF=159;SRP=13.6505;SRR=201;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0128;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0128;1000g2015aug_all=0.00359425;avsnp147=rs45503601;Kaviar_AF=0.0075161;Kaviar_AC=1162;Kaviar_AN=154602;ExAC_ALL=0.0075;ExAC_AFR=0.0019;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0080;ExAC_NFE=0.0100;ExAC_OTH=0.0044;ExAC_SAS=0.0081;CLNALLELEID=186473;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1780;dpsi_zscore=-0.642;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS050818#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0074;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0062;gnomAD_exome_NFE=0.0108;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0083;gnomAD_genome_ALL=0.0071;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0060;gnomAD_genome_NFE=0.0115;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-564.376,0,-625.695:747:360:346:9729:10809 . . . . . . . . . . . . . 0/1:-1744.69,0,-2417.54:2644:1350:1160:31856:40419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23886383 . G A 6320.18 . AB=0.416864;ABP=79.1932;AC=1;AF=0.5;AN=2;AO=529;CIGAR=1X;DP=1269;DPB=1269;DPRA=0;EPP=19.3025;EPPR=22.5536;GTI=0;LEN=1;MEANALT=3;MQM=29.896;MQMR=30.0473;NS=1;NUMALT=1;ODDS=1455.28;PAIRED=0.962193;PAIREDR=0.943787;PAO=0;PQA=0;PQR=0;PRO=0;QA=14230;QR=20665;RO=676;RPL=276;RPP=5.18177;RPPR=23.5686;RPR=253;RUN=1;SAF=266;SAP=3.04724;SAR=263;SF=0;SRF=359;SRP=8.67669;SRR=317;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4498T:p.R1500W;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs45544633;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=175594;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=4.13;MutationAssessor_pred=H;FATHMM_score=-1.81;FATHMM_pred=D;PROVEAN_score=-6.0;PROVEAN_pred=D;VEST3_score=0.968;CADD_raw=6.811;CADD_phred=32;DANN_score=0.999;fathmm-MKL_coding_score=0.878;fathmm-MKL_coding_pred=D;MetaSVM_score=0.914;MetaSVM_pred=D;MetaLR_score=0.836;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=0.846;phyloP7way_vertebrate=-0.646;phyloP20way_mammalian=0.031;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.450;GDI_full_10282015=.;dpsi_max_tissue=-0.3804;dpsi_zscore=-0.960;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM045547#"Cardiomyopathy_dilated";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-645.788,0,-1081.58:1269:676:529:14230:20665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23886409 . G C 8248.89 . AB=0.44021;ABP=50.2691;AC=4;AF=0.5;AN=8;AO=670;CIGAR=1X;DP=5388;DPB=1522;DPRA=0;EPP=20.758;EPPR=17.3023;GTI=0;LEN=1;MEANALT=3;MQM=26.5224;MQMR=29.8029;NS=1;NUMALT=1;ODDS=1838.54;PAIRED=0.91194;PAIREDR=0.925481;PAO=0;PQA=0;PQR=0;PRO=0;QA=19447;QR=26084;RO=832;RPL=323;RPP=4.87712;RPPR=6.77906;RPR=347;RUN=1;SAF=329;SAP=3.477;SAR=341;SF=0,1;SRF=424;SRP=3.67845;SRR=408;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4472G:p.S1491C;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0115;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0115;1000g2015aug_all=0.00519169;avsnp147=rs3729823;Kaviar_AF=0.008137;Kaviar_AC=1258;Kaviar_AN=154602;ExAC_ALL=0.0075;ExAC_AFR=0.0027;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0105;ExAC_OTH=0.0044;ExAC_SAS=0.0067;CLNALLELEID=52190;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.08;MutationAssessor_pred=M;FATHMM_score=-1.69;FATHMM_pred=D;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.221;CADD_raw=3.122;CADD_phred=22.6;DANN_score=0.993;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.285;MetaSVM_pred=T;MetaLR_score=0.358;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.887;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=19.089;GDI_full_10282015=.;dpsi_max_tissue=-0.0445;dpsi_zscore=-0.240;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM050712#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0021;gnomAD_exome_NFE=0.0127;gnomAD_exome_OTH=0.0084;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0069;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0132;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0111;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-812.496,0,-1359.59:1522:832:670:19447:26084 0/1:-761.215,0,-1125.95:1341:728:589:17217:22291 . . . . . 0/1:-980.261,0,-1363.25:1591:849:723:21091:26553 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-769.712,0,-868.767:934:465:455:13838:14829:465,455 . . . . . . . . . . . . . . . . chr14 23886765 . G A 2941.47 . AB=0.436903;ABP=35.6192;AC=1;AF=0.5;AN=2;AO=412;CIGAR=1X;DP=943;DPB=943;DPRA=0;EPP=4.71796;EPPR=10.1299;GTI=0;LEN=1;MEANALT=3;MQM=18.9515;MQMR=21.1865;NS=1;NUMALT=1;ODDS=677.299;PAIRED=0.934466;PAIREDR=0.891393;PAO=0;PQA=0;PQR=0;PRO=0;QA=11164;QR=15116;RO=488;RPL=169;RPP=31.8719;RPPR=3.88245;RPR=243;RUN=1;SAF=220;SAP=7.14242;SAR=192;SF=0;SRF=295;SRP=49.3054;SRR=193;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon31:c.C4300T:p.R1434C;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730880800;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=179514;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.982;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.83;MutationAssessor_pred=H;FATHMM_score=-1.82;FATHMM_pred=D;PROVEAN_score=-5.58;PROVEAN_pred=D;VEST3_score=0.925;CADD_raw=7.390;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.879;fathmm-MKL_coding_pred=D;MetaSVM_score=0.820;MetaSVM_pred=D;MetaLR_score=0.812;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.06;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.949;phastCons7way_vertebrate=0.962;phastCons20way_mammalian=0.977;SiPhy_29way_logOdds=12.773;GDI_full_10282015=.;dpsi_max_tissue=-0.0508;dpsi_zscore=-0.269;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM115853#"Cardiomyopathy_hypertrophic/dilated";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-306.51,0,-547.878:943:488:412:11164:15116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23886775 . C A 4296.56 . AB=0.424192;ABP=63.2592;AC=2;AF=0.5;AN=4;AO=512;CIGAR=1X;DP=2787;DPB=1207;DPRA=0;EPP=19.3133;EPPR=7.42746;GTI=0;LEN=1;MEANALT=3;MQM=19.791;MQMR=20.5468;NS=1;NUMALT=1;ODDS=842.34;PAIRED=0.916016;PAIREDR=0.92422;PAO=0;PQA=0;PQR=0;PRO=0;QA=13774;QR=19758;RO=673;RPL=206;RPP=45.4219;RPPR=12.0737;RPR=306;RUN=1;SAF=301;SAP=37.3637;SAR=211;SF=0,1;SRF=382;SRP=29.7294;SRR=291;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon31:c.G4290T:p.V1430V;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs372476972;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=6.59e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=374129;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0115;dpsi_zscore=0.079;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.28e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.85e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.671e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-387.916,0,-714.022:1207:673:512:13774:19758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-753.52,0,-1050.66:1580:825:741:21099:24931:825,741 . . . . chr14 23886838 . G C 6608.63 . AB=0.452131;ABP=35.2337;AC=1;AF=0.5;AN=2;AO=732;CIGAR=1X;DP=1619;DPB=1619;DPRA=0;EPP=15.1611;EPPR=74.379;GTI=0;LEN=1;MEANALT=3;MQM=22.0137;MQMR=23.2739;NS=1;NUMALT=1;ODDS=1521.69;PAIRED=0.92623;PAIREDR=0.913694;PAO=0;PQA=0;PQR=0;PRO=0;QA=20430;QR=25411;RO=869;RPL=379;RPP=5.01565;RPPR=7.63061;RPR=353;RUN=1;SAF=367;SAP=3.02217;SAR=365;SF=0;SRF=436;SRP=3.03279;SRR=433;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon31:c.C4227G:p.A1409A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs148788346;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=2.471e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.496e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=52168;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0476;dpsi_zscore=0.287;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.218e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.686e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-673.119,0,-991.034:1619:869:732:20430:25411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23886855 . C T 10021.00 . AB=0.457955;ABP=30.0353;AC=1;AF=0.5;AN=2;AO=806;CIGAR=1X;DP=1760;DPB=1760;DPRA=0;EPP=14.0455;EPPR=8.73336;GTI=0;LEN=1;MEANALT=3;MQM=26.2717;MQMR=27.9012;NS=1;NUMALT=1;ODDS=2307.42;PAIRED=0.940447;PAIREDR=0.917673;PAO=0;PQA=0;PQR=0;PRO=0;QA=24433;QR=28167;RO=911;RPL=519;RPP=148.019;RPPR=180.659;RPR=287;RUN=1;SAF=384;SAP=6.90063;SAR=422;SF=1;SRF=413;SRP=20.2319;SRR=498;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon31:c.G4210A:p.V1404M;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs371552806;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.648e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.999e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=52169;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.127;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.977;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=-1.37;FATHMM_pred=T;PROVEAN_score=-1.67;PROVEAN_pred=N;VEST3_score=0.502;CADD_raw=4.676;CADD_phred=24.5;DANN_score=0.999;fathmm-MKL_coding_score=0.869;fathmm-MKL_coding_pred=D;MetaSVM_score=0.252;MetaSVM_pred=D;MetaLR_score=0.667;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.848;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.591;SiPhy_29way_logOdds=18.471;GDI_full_10282015=.;dpsi_max_tissue=0.0393;dpsi_zscore=0.247;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1412227#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=2.843e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.372e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1028.04,0,-1341.44:1760:911:806:24433:28167:911,806 . . . . . . . . . . . . . . chr14 23888371 . G A 7456.64 . AB=0.498792;ABP=3.02079;AC=1;AF=0.5;AN=2;AO=413;CIGAR=1X;DP=828;DPB=828;DPRA=0;EPP=101.694;EPPR=41.7483;GTI=0;LEN=1;MEANALT=3;MQM=39.2518;MQMR=39.8444;NS=1;NUMALT=1;ODDS=1716.95;PAIRED=0.966102;PAIREDR=0.980247;PAO=0;PQA=0;PQR=0;PRO=0;QA=12417;QR=12130;RO=405;RPL=119;RPP=164.03;RPPR=62.1226;RPR=294;RUN=1;SAF=322;SAP=283.572;SAR=91;SF=1;SRF=307;SRP=237.213;SRR=98;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0101;esp6500siv2_ea=0.0135;esp6500siv2_all=0.0101;esp6500siv2_ea=0.0135;1000g2015aug_all=0.00459265;avsnp147=rs3729820;Kaviar_AF=0.0114811;Kaviar_AC=1775;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0022;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0343;ExAC_NFE=0.0160;ExAC_OTH=0.0110;ExAC_SAS=0.0061;CLNALLELEID=52153;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0847;dpsi_zscore=0.435;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0119;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0051;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0334;gnomAD_exome_NFE=0.0158;gnomAD_exome_OTH=0.0120;gnomAD_exome_SAS=0.0071;gnomAD_genome_ALL=0.0141;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0272;gnomAD_genome_NFE=0.0207;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-809.248,0,-797.687:828:405:413:12417:12130:405,413 . . . . . . . . . chr14 23888671 . G A 8443.90 . AB=0.459697;ABP=20.6888;AC=1;AF=0.5;AN=2;AO=576;CIGAR=1X;DP=1253;DPB=1253;DPRA=0;EPP=7.36832;EPPR=4.98936;GTI=0;LEN=1;MEANALT=3;MQM=33.2951;MQMR=32.8149;NS=1;NUMALT=1;ODDS=1944.28;PAIRED=0.822917;PAIREDR=0.822785;PAO=0;PQA=0;PQR=0;PRO=0;QA=16063;QR=19404;RO=632;RPL=197;RPP=127.885;RPPR=102.307;RPR=379;RUN=1;SAF=304;SAP=6.8707;SAR=272;SF=0;SRF=329;SRP=5.33295;SRR=303;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0043;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0043;1000g2015aug_all=0.00179712;avsnp147=rs45584435;Kaviar_AF=0.0039909;Kaviar_AC=617;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0014;ExAC_AMR=0.0023;ExAC_EAS=0;ExAC_FIN=0.0147;ExAC_NFE=0.0054;ExAC_OTH=0.0055;ExAC_SAS=0.0018;CLNALLELEID=186480;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0502;dpsi_zscore=-0.266;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0047;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0028;gnomAD_exome_ASJ=0.0086;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0146;gnomAD_exome_NFE=0.0049;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0018;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0163;gnomAD_genome_NFE=0.0055;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-866.53,0,-1085.67:1253:632:576:16063:19404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23889429 . C T 734.99 . AB=0.405892;ABP=50.0115;AC=1;AF=0.5;AN=2;AO=248;CIGAR=1X;DP=611;DPB=611;DPRA=0;EPP=23.184;EPPR=37.3302;GTI=0;LEN=1;MEANALT=3;MQM=15.8145;MQMR=15.0122;NS=1;NUMALT=1;ODDS=169.237;PAIRED=0.947581;PAIREDR=0.954268;PAO=0;PQA=0;PQR=0;PRO=0;QA=6237;QR=10139;RO=328;RPL=145;RPP=18.4558;RPPR=56.6351;RPR=103;RUN=1;SAF=107;SAP=13.1322;SAR=141;SF=0;SRF=123;SRP=47.5255;SRR=205;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon27:c.G3351A:p.E1117E;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0039;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0039;1000g2015aug_all=0.00119808;avsnp147=rs45554236;Kaviar_AF=0.0023609;Kaviar_AC=365;Kaviar_AN=154602;ExAC_ALL=0.0024;ExAC_AFR=0.0005;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0014;ExAC_NFE=0.0038;ExAC_OTH=0.0013;ExAC_SAS=0.0007;CLNALLELEID=52127;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1041;dpsi_zscore=0.496;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0031;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-87.8594,0,-191.146:611:328:248:6237:10139 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23889445 . TGGTC TGGGTC 541.17 . AB=0.232659;ABP=432.598;AC=20;AF=0.5;AN=40;AO=161;CIGAR=1M1I2M;DP=13200;DPB=751.667;DPRA=0;EPP=5.28967;EPPR=26.9973;GTI=0;LEN=1;MEANALT=30;MQM=25.3851;MQMR=17.406;NS=1;NUMALT=1;ODDS=23.9858;PAIRED=0.962733;PAIREDR=0.918794;PAO=1;PQA=16;PQR=0;PRO=0;QA=2795;QR=12907;RO=431;RPL=56;RPP=35.3936;RPPR=190.679;RPR=105;RUN=1;SAF=106;SAP=38.091;SAR=55;SF=0,1;SRF=176;SRP=34.4538;SRR=255;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=MYH7;GeneDetail.refGene=NM_000257:exon27:c.3337-2->C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0403355;avsnp147=rs45504498;Kaviar_AF=0.0021151;Kaviar_AC=327;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0024;ExAC_AMR=0.0008;ExAC_EAS=0.0026;ExAC_FIN=0.0002;ExAC_NFE=0.0027;ExAC_OTH=0.0040;ExAC_SAS=0.0024;CLNALLELEID=52126;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Paroxysmal_familial_ventricular_fibrillation_1|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C2751898,OMIM:603829|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0151;gnomAD_exome_AFR=0.0083;gnomAD_exome_AMR=0.0166;gnomAD_exome_ASJ=0.0113;gnomAD_exome_EAS=0.0269;gnomAD_exome_FIN=0.0110;gnomAD_exome_NFE=0.0129;gnomAD_exome_OTH=0.0239;gnomAD_exome_SAS=0.0208;gnomAD_genome_ALL=0.0596;gnomAD_genome_AFR=0.0297;gnomAD_genome_AMR=0.0550;gnomAD_genome_ASJ=0.1047;gnomAD_genome_EAS=0.0637;gnomAD_genome_FIN=0.0826;gnomAD_genome_NFE=0.0704;gnomAD_genome_OTH=0.0643;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:.,.,-355.329:692:431:161:2795:12907 . 0/1:.,.,-357.979:575:360:142:2547:10666 . . 0/1:.,.,-345.476:709:459:179:3312:13931 . . 0/1:.,.,-338.95:676:434:144:2712:12882 . . . . . . . . . . . 0/1:.,.,-411.182:853:501:240:4601:14760 . . . . . . . 0/1:.,.,-430.961:745:462:174:3418:13785 . . . . . . 0/1:.,.,-246.274:453:294:97:1857:8892 . . . 0/1:.,.,-378.086:691:405:187:3613:11796 . . . . . . . . . . . . . . . . 0/1:.,.,-199.276:460:279:115:1833:8242 . 0/1:.,.,-318.172:639:389:185:3493:11581 . 0/1:.,.,-485.702:836:526:201:3935:15386 . . . . . 0/1:.,.,-347.546:726:436:190:3582:13031 . . . 0/1:.,.,-336.048:581:375:133:2572:11541 . . . 0/1:.,.,-261.387:459:302:99:1967:9092 . . . . . . 0/1:.,.,-368.802:650:408:143:2724:12200 0/1:.,.,-249.792:518:320:146:2841:9315 0/1:.,.,-397.946:741:459:174:3270:13713 . . . . . . . . . . . . . . 0/1:-184.843,0,-406.312:764:458:202:4455:14187:458,202 . . . . 0/1:-142.687,0,-502.301:725:447:180:3852:14100:447,180 0/1:-112.163,0,-486.865:707:443:178:3534:13701:443,178 . . . . . . . chr14 23891477 . G A 9492.33 . AB=0.496219;ABP=3.14166;AC=1;AF=0.5;AN=2;AO=525;CIGAR=1X;DP=1058;DPB=1058;DPRA=0;EPP=20.4855;EPPR=32.8195;GTI=0;LEN=1;MEANALT=3;MQM=38.781;MQMR=38.7588;NS=1;NUMALT=1;ODDS=2185.69;PAIRED=0.952381;PAIREDR=0.951362;PAO=0;PQA=0;PQR=0;PRO=0;QA=15129;QR=15978;RO=514;RPL=324;RPP=65.5859;RPPR=40.3393;RPR=201;RUN=1;SAF=294;SAP=19.4266;SAR=231;SF=1;SRF=275;SRP=8.48545;SRR=239;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon25:c.C3157T:p.R1053W;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730880903;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=4.02;MutationAssessor_pred=H;FATHMM_score=-3.69;FATHMM_pred=D;PROVEAN_score=-6.09;PROVEAN_pred=D;VEST3_score=0.925;CADD_raw=6.193;CADD_phred=28.6;DANN_score=0.998;fathmm-MKL_coding_score=0.827;fathmm-MKL_coding_pred=D;MetaSVM_score=1.101;MetaSVM_pred=D;MetaLR_score=0.949;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=-0.873;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=-0.345;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=17.654;GDI_full_10282015=.;dpsi_max_tissue=-0.5230;dpsi_zscore=-1.114;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-966.457,0,-1032.61:1058:514:525:15129:15978:514,525 . . . . . . . . . chr14 23891481 . C T 5241.76 . AB=0.471774;ABP=8.15879;AC=3;AF=0.5;AN=6;AO=351;CIGAR=1X;DP=2227;DPB=744;DPRA=0;EPP=29.1484;EPPR=4.17955;GTI=0;LEN=1;MEANALT=3;MQM=34.4587;MQMR=33.7115;NS=1;NUMALT=1;ODDS=1160.01;PAIRED=0.91453;PAIREDR=0.925824;PAO=0;PQA=0;PQR=0;PRO=0;QA=9501;QR=10879;RO=364;RPL=215;RPP=41.6204;RPPR=41.19;RPR=136;RUN=1;SAF=182;SAP=4.05582;SAR=169;SF=0;SRF=183;SRP=3.03416;SRR=181;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon25:c.G3153A:p.A1051A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0077;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0077;1000g2015aug_all=0.00319489;avsnp147=rs45540831;Kaviar_AF=0.0052522;Kaviar_AC=812;Kaviar_AN=154602;ExAC_ALL=0.0050;ExAC_AFR=0.0017;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0.0018;ExAC_NFE=0.0073;ExAC_OTH=0.0033;ExAC_SAS=0.0039;CLNALLELEID=52116;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3778;dpsi_zscore=-0.956;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM111027#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0017;gnomAD_exome_NFE=0.0093;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0057;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0091;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-518.084,0,-609.691:744:364:351:9501:10879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-362.191,0,-448.232:492:238:239:6617:7198 . . . . . . . . . . . . . . . . . 0/1:-731.084,0,-878.023:991:500:453:12627:14663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23892888 . A G 12930.43 . AB=0.516192;ABP=5.33094;AC=85;AF=0.5;AN=140;AO=526;CIGAR=1X;DP=82873;DPB=1019;DPRA=0;EPP=181.616;EPPR=65.4448;GTI=0;LEN=1;MEANALT=3;MQM=33.7795;MQMR=34.5705;NS=1;NUMALT=1;ODDS=1719.25;PAIRED=0.948669;PAIREDR=0.940171;PAO=0;PQA=0;PQR=0;PRO=0;QA=14619;QR=13536;RO=468;RPL=222;RPP=30.7688;RPPR=12.8283;RPR=304;RUN=1;SAF=261;SAP=3.07635;SAR=265;SF=0,1;SRF=237;SRP=3.17734;SRR=231;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.T2967C:p.I989I;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.4547;esp6500siv2_ea=0.3288;esp6500siv2_all=0.4547;esp6500siv2_ea=0.3288;1000g2015aug_all=0.376398;avsnp147=rs7157716;Kaviar_AF=0.32052;Kaviar_AC=49553;Kaviar_AN=154602;ExAC_ALL=0.3212;ExAC_AFR=0.7184;ExAC_AMR=0.1874;ExAC_EAS=0.1584;ExAC_FIN=0.2499;ExAC_NFE=0.3270;ExAC_OTH=0.2996;ExAC_SAS=0.2562;CLNALLELEID=52112;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1918;dpsi_zscore=0.706;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3070;gnomAD_exome_AFR=0.7180;gnomAD_exome_AMR=0.2013;gnomAD_exome_ASJ=0.3954;gnomAD_exome_EAS=0.1554;gnomAD_exome_FIN=0.2467;gnomAD_exome_NFE=0.3225;gnomAD_exome_OTH=0.3241;gnomAD_exome_SAS=0.2587;gnomAD_genome_ALL=0.4165;gnomAD_genome_AFR=0.7157;gnomAD_genome_AMR=0.2428;gnomAD_genome_ASJ=0.44;gnomAD_genome_EAS=0.1389;gnomAD_genome_FIN=0.2602;gnomAD_genome_NFE=0.3257;gnomAD_genome_OTH=0.3098;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-834.141,0,-761.887:1019:468:526:14619:13536 . . . 1/1:-2423.07,-322.99,0:1196:14:1153:31969:366 . 1/1:-2365.19,-297.939,0:1096:10:1071:30480:325 . 1/1:-2287.91,-285.357,0:1093:19:1062:29994:454 1/1:-2868.41,-362.911,0:1355:18:1319:37488:484 . 0/1:-940.033,0,-1004.88:1207:592:582:16446:17212 1/1:-2394.96,-316.712,0:1143:11:1110:30993:277 1/1:-1767.47,-246.611,0:901:11:873:24124:269 . . . . . 0/1:-639.942,0,-654.929:844:412:406:11500:11587 . . . 0/1:-1308.65,0,-1137.38:1534:689:801:22730:19898 0/1:-1001.59,0,-1040.12:1281:598:652:17927:17778 0/1:-666.832,0,-673.793:935:437:463:12556:12104 0/1:-1083.87,0,-1044.28:1317:602:688:19155:17655 0/1:-931.154,0,-943.883:1137:540:568:16057:15938 0/1:-686.126,0,-698.713:907:420:464:12404:12338 0/1:-677.68,0,-774.159:885:442:423:11973:12879 0/1:-944.576,0,-820.836:1109:505:570:16353:14610 0/1:-1226.93,0,-1254.03:1538:740:764:21857:21576 0/1:-1037.89,0,-933.746:1272:567:670:18455:16549 0/1:-899.968,0,-1003.95:1210:605:572:16002:17508 0/1:-964.908,0,-965.585:1181:566:588:16852:16492 . . . . 1/1:-1706.64,-221.563,0:804:8:786:21936:209 0/1:-1186.1,0,-1281.26:1474:720:719:21035:20914 . . 0/1:-1068.09,0,-894.318:1234:541:664:18292:15667 0/1:-1117.09,0,-1306.25:1498:737:722:20366:21565 0/1:-913.725,0,-974.419:1170:559:588:16149:16475 0/1:-1106.68,0,-1075.3:1358:620:697:19595:18218 0/1:-617.663,0,-679.863:762:375:369:10643:11149 0/1:-723.411,0,-821.671:950:469:461:12827:13798 . . 0/1:-964.432,0,-792.503:1146:500:618:17501:14508 0/1:-1477.39,0,-1002.51:1572:637:895:25304:18831 . . 0/1:-738.912,0,-884.352:981:495:460:12730:14720 1/1:-2911.81,-380.824,0:1390:14:1357:38096:386 0/1:-536.388,0,-454.51:697:309:376:9834:8536 0/1:-614.979,0,-657.145:801:375:401:10984:10998 . 0/1:-564.607,0,-638.951:798:388:392:10576:11144 1/1:-3252.16,-388.162,0:1549:30:1492:42258:885 0/1:-852.399,0,-908.392:1080:517:530:15105:15410 0/1:-694.132,0,-600.152:890:404:457:12796:11172 0/1:-1162.06,0,-1227.62:1484:710:742:21002:20823 0/1:-1045.3,0,-1058.81:1293:614:641:18061:17876 . 0/1:-1016.88,0,-889.346:1172:538:607:17375:15607 0/1:-797.139,0,-875.329:1054:505:519:14085:14985 . 1/1:-2737.84,-351.41,0:1289:13:1247:35229:374 . 0/1:-1107.14,0,-1151.37:1381:670:673:19186:19544 . 0/1:-922.618,0,-864.871:1087:502:559:16098:14975 1/1:-2806.84,-371.185,0:1344:14:1307:36428:381 0/1:-1028.14,0,-1144.37:1325:651:651:18587:19111 0/1:-1126.09,0,-1172.02:1443:687:720:20067:20197 0/1:-475.615,0,-688.474:711:388:304:8645:11390 0/1:-747.875,0,-471.63:768:304:442:12589:8985 0/1:-970.39,0,-1060.9:1297:630:636:17615:18026 0/1:-1117.27,0,-1061.27:1374:638:706:19976:18678 . 1/1:-2439.73,-317.897,0:1205:13:1162:32405:409 . 0/1:-935.119,0,-876.192:1139:529:581:16218:15270 1/1:-1961,-266.646,0:958:9:933:25174:215 1/1:-2799.75,-341.433,0:1335:22:1284:36433:626 0/1:-517.112,0,-463.326:586:272:306:8885:8017 . . 0/1:-851.148,0,-954.018:1121:545:539:15206:16076 0/1:-1183.49,0,-1337.43:1584:784:763:21586:22642 0/1:-980.267,0,-1105.91:1307:626:646:17571:18387 . . 0/1:-1347.63,0,-1384.17:1411:678:713:21633:21503:678,713 . . . . . 0/1:-1291.05,0,-1253.64:1313:622:679:21050:19700:622,679 0/1:-1540.5,0,-1410.53:1528:710:808:24661:22389:710,808 0/1:-1188.71,0,-1412.66:1354:691:655:19905:21942:691,655 . 0/1:-1410.5,0,-1430.24:1434:693:729:22872:22323:693,729 0/1:-1008.44,0,-1173.16:1126:581:532:16520:18249:581,532 1/1:-3003.68,-337.175,0:1274:15:1242:38273:476:15,1242 0/1:-1291.03,0,-1219.67:1267:596:659:20607:19184:596,659 0/1:-1537.63,0,-1473.6:1595:745:832:25548:23226:745,832 . . . . . chr14 23892950 . C T 8739.38 . AB=0.483216;ABP=5.78027;AC=2;AF=0.5;AN=4;AO=547;CIGAR=1X;DP=2265;DPB=1132;DPRA=0;EPP=25.3403;EPPR=31.1756;GTI=0;LEN=1;MEANALT=3;MQM=33.5978;MQMR=35.4945;NS=1;NUMALT=1;ODDS=1904.59;PAIRED=0.968921;PAIREDR=0.963235;PAO=0;PQA=0;PQR=0;PRO=0;QA=15288;QR=15268;RO=544;RPL=338;RPP=69.0715;RPPR=85.7817;RPR=209;RUN=1;SAF=180;SAP=141.83;SAR=367;SF=0,1;SRF=196;SRP=95.234;SRR=348;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0518;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0518;esp6500siv2_ea=0.0009;1000g2015aug_all=0.0507188;avsnp147=rs7157087;Kaviar_AF=0.0145664;Kaviar_AC=2252;Kaviar_AN=154602;ExAC_ALL=0.0152;ExAC_AFR=0.1638;ExAC_AMR=0.0078;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0044;ExAC_SAS=0.0003;CLNALLELEID=186489;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1942;dpsi_zscore=-0.676;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0115;gnomAD_exome_AFR=0.1594;gnomAD_exome_AMR=0.0077;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0445;gnomAD_genome_AFR=0.1550;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-858.204,0,-900.267:1132:544:547:15288:15268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1136.76,0,-1011.27:1133:530:592:18051:15960:530,592 . . . . . . . . . chr14 23895025 . T C 4073.11 . AB=0.503883;ABP=3.14523;AC=1;AF=0.5;AN=2;AO=519;CIGAR=1X;DP=1030;DPB=1030;DPRA=0;EPP=15.6668;EPPR=14.851;GTI=0;LEN=1;MEANALT=3;MQM=19.5202;MQMR=18.5975;NS=1;NUMALT=1;ODDS=747.272;PAIRED=0.953757;PAIREDR=0.966457;PAO=0;PQA=0;PQR=0;PRO=0;QA=14903;QR=13950;RO=477;RPL=279;RPP=9.37409;RPPR=35.9011;RPR=240;RUN=1;SAF=198;SAP=66.3093;SAR=321;SF=0;SRF=189;SRP=47.6279;SRR=288;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon20:c.A2165G:p.Y722C;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.179;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.35;MutationAssessor_pred=H;FATHMM_score=-2.67;FATHMM_pred=D;PROVEAN_score=-7.76;PROVEAN_pred=D;VEST3_score=0.986;CADD_raw=5.554;CADD_phred=26.4;DANN_score=0.998;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=0.816;MetaSVM_pred=D;MetaLR_score=0.856;MetaLR_pred=D;integrated_fitCons_score=0.490;integrated_confidence_value=1;GERP++_RS=4.88;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.058;phastCons7way_vertebrate=0.936;phastCons20way_mammalian=0.986;SiPhy_29way_logOdds=14.652;GDI_full_10282015=.;dpsi_max_tissue=-0.0684;dpsi_zscore=-0.342;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-423.94,0,-341.799:1030:477:519:14903:13950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23897077 . T C 3151.77 . AB=0.462572;ABP=9.34967;AC=2;AF=0.5;AN=4;AO=241;CIGAR=1X;DP=931;DPB=521;DPRA=0;EPP=6.263;EPPR=31.3208;GTI=0;LEN=1;MEANALT=3;MQM=30.751;MQMR=35.0974;NS=1;NUMALT=1;ODDS=718.396;PAIRED=0.975104;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6971;QR=7785;RO=267;RPL=167;RPP=80.94;RPPR=126.052;RPR=74;RUN=1;SAF=37;SAP=254.297;SAR=204;SF=0,1;SRF=32;SRP=338.157;SRR=235;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon16:c.A1605G:p.E535E;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0009;1000g2015aug_all=0.0329473;avsnp147=rs2069543;Kaviar_AF=0.0099223;Kaviar_AC=1534;Kaviar_AN=154602;ExAC_ALL=0.0105;ExAC_AFR=0.1117;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0055;ExAC_SAS=0.0012;CLNALLELEID=52023;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0255;dpsi_zscore=0.171;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0080;gnomAD_exome_AFR=0.1086;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0306;gnomAD_genome_AFR=0.1068;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-355.42,0,-461.707:521:267:241:6971:7785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-371.959,0,-361.835:410:200:202:6233:5988:200,202 . . . . . . . . . chr14 23898994 . G A 6979.96 . AB=0.429259;ABP=48.1723;AC=20;AF=0.5;AN=38;AO=446;CIGAR=1X;DP=18670;DPB=1039;DPRA=0;EPP=3.96458;EPPR=3.20064;GTI=0;LEN=1;MEANALT=3;MQM=31.8632;MQMR=33.2379;NS=1;NUMALT=1;ODDS=1309.56;PAIRED=0.818386;PAIREDR=0.851521;PAO=0;PQA=0;PQR=0;PRO=0;QA=11884;QR=16594;RO=559;RPL=133;RPP=160.759;RPPR=336.496;RPR=313;RUN=1;SAF=231;SAP=4.25671;SAR=215;SF=0,1;SRF=289;SRP=4.41263;SRR=270;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1128T:p.D376D;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.1845;esp6500siv2_ea=0.0867;esp6500siv2_all=0.1845;esp6500siv2_ea=0.0867;1000g2015aug_all=0.15615;avsnp147=rs2231126;Kaviar_AF=0.0943131;Kaviar_AC=14581;Kaviar_AN=154602;ExAC_ALL=0.0961;ExAC_AFR=0.3860;ExAC_AMR=0.0482;ExAC_EAS=0.0149;ExAC_FIN=0.0543;ExAC_NFE=0.0794;ExAC_OTH=0.0837;ExAC_SAS=0.0742;CLNALLELEID=51993;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4332;dpsi_zscore=-1.021;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0884;gnomAD_exome_AFR=0.3897;gnomAD_exome_AMR=0.0534;gnomAD_exome_ASJ=0.0925;gnomAD_exome_EAS=0.0132;gnomAD_exome_FIN=0.0524;gnomAD_exome_NFE=0.0801;gnomAD_exome_OTH=0.0879;gnomAD_exome_SAS=0.0739;gnomAD_genome_ALL=0.1578;gnomAD_genome_AFR=0.3795;gnomAD_genome_AMR=0.0728;gnomAD_genome_ASJ=0.0767;gnomAD_genome_EAS=0.0111;gnomAD_genome_FIN=0.0600;gnomAD_genome_NFE=0.0785;gnomAD_genome_OTH=0.0862;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-595.782,0,-976.768:1039:559:446:11884:16594 . . 0/1:-790.863,0,-803.867:1028:492:504:13932:14521 . 0/1:-824.25,0,-965.466:1172:577:544:14775:17391 . . 0/1:-719.76,0,-704.205:899:424:445:12334:12624 . . . . . . . . . . . . . 0/1:-548.039,0,-921.453:928:504:399:10949:15144 . . . 0/1:-612.085,0,-716.108:901:442:418:11230:12818 . . . . . . . . . . . . . . . . 0/1:-409.445,0,-538.26:593:313:260:7440:9222 . . . 0/1:-553.376,0,-792.507:941:490:406:10829:14291 . . . . . . . . . 0/1:-712.302,0,-1143.75:1239:665:533:14302:19959 . . . 0/1:-610.251,0,-854.446:959:496:429:11686:15019 . 0/1:-724.621,0,-975.619:1084:557:486:13402:16596 . . . . . . . 0/1:-671.098,0,-918.305:1072:550:475:12850:16526 . . . . . . . 1/1:-1801.08,-221.91,0:935:20:860:23841:574 . . . . 0/1:-394.856,0,-407.869:549:259:264:7289:7443 . . . . . . . 0/1:-956.75,0,-1017.32:1061:534:505:15397:16514:534,505 . . . . . . . 0/1:-666.831,0,-1040.66:936:521:402:11709:16005:521,402 . . . 0/1:-766.469,0,-1152.43:1027:566:440:13240:17921:566,440 0/1:-920.23,0,-1119.25:1087:566:501:15153:17389:566,501 0/1:-944.065,0,-1319.69:1220:648:551:16191:20173:648,551 . . . . . chr14 23899027 . C T 8424.44 . AB=0.466119;ABP=12.7217;AC=28;AF=0.5;AN=52;AO=454;CIGAR=1X;DP=27680;DPB=974;DPRA=0;EPP=7.31498;EPPR=16.6845;GTI=0;LEN=1;MEANALT=3;MQM=34.9273;MQMR=34.8976;NS=1;NUMALT=1;ODDS=1594.24;PAIRED=0.852423;PAIREDR=0.875502;PAO=0;PQA=0;PQR=0;PRO=0;QA=12749;QR=15268;RO=498;RPL=160;RPP=88.8935;RPPR=90.9331;RPR=294;RUN=1;SAF=226;SAP=3.02943;SAR=228;SF=0,1;SRF=255;SRP=3.6382;SRR=243;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.G1095A:p.K365K;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.1489;esp6500siv2_ea=0.1513;esp6500siv2_all=0.1489;esp6500siv2_ea=0.1513;1000g2015aug_all=0.0796725;avsnp147=rs735711;Kaviar_AF=0.118517;Kaviar_AC=18323;Kaviar_AN=154602;ExAC_ALL=0.1159;ExAC_AFR=0.1416;ExAC_AMR=0.0547;ExAC_EAS=0.0003;ExAC_FIN=0.1049;ExAC_NFE=0.1567;ExAC_OTH=0.1145;ExAC_SAS=0.0423;CLNALLELEID=51991;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1761;dpsi_zscore=-0.638;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1116;gnomAD_exome_AFR=0.1414;gnomAD_exome_AMR=0.0581;gnomAD_exome_ASJ=0.1735;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1036;gnomAD_exome_NFE=0.1551;gnomAD_exome_OTH=0.1187;gnomAD_exome_SAS=0.0441;gnomAD_genome_ALL=0.1396;gnomAD_genome_AFR=0.1423;gnomAD_genome_AMR=0.0692;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1080;gnomAD_genome_NFE=0.1635;gnomAD_genome_OTH=0.1319;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-709.111,0,-909.958:974:498:454:12749:15268 . . . . . 0/1:-629.698,0,-938.674:978:513:421:12036:15823 . 1/1:-1877.59,-202.268,0:943:24:875:24779:786 . . . . 1/1:-1572.36,-198.853,0:832:16:771:21435:506 . . . . . 0/1:-577.772,0,-759.277:825:420:384:10795:12835 . . . 0/1:-875.998,0,-1208.09:1268:650:583:16191:19837 . . . 0/1:-708.591,0,-1102.15:1108:585:480:13166:18072 . . . . . . 0/1:-811.141,0,-1009.83:1092:530:520:14739:16517 . . . . 0/1:-471.535,0,-626.582:672:335:315:8819:10575 0/1:-992.402,0,-1266.4:1367:693:633:17917:21213 . . . . . 0/1:-770.282,0,-984.045:1101:544:518:14160:16715 . 0/1:-622.817,0,-963.072:933:504:395:11317:15602 . . . 0/1:-842.329,0,-1315:1268:679:552:15539:20875 . . 0/1:-684.523,0,-766.279:868:421:422:11978:12832 0/1:-961.674,0,-954.909:1132:521:577:16698:16413 0/1:-339.354,0,-703.385:662:386:257:7176:11918 0/1:-561.277,0,-686.76:777:384:370:10080:11735 . . 0/1:-1021.54,0,-1009.59:1273:579:645:17671:18008 . . . . . . . . 0/1:-685.139,0,-1046.52:1051:572:448:12725:17604 . . . . 0/1:-838.836,0,-945.331:1122:551:528:14810:16799 . 0/1:-915.132,0,-1226.24:1293:658:597:16791:20295 . . 0/1:-741.896,0,-1022.8:1112:570:499:13646:17492 . . . . . . 0/1:-742.483,0,-1086.67:1134:605:487:13739:18526 . . . . 0/1:-1051.28,0,-1348.17:1453:731:672:18781:22448 0/1:-676.178,0,-1266.03:1166:665:462:13121:20284 . . . . . . . . . 0/1:-1020.3,0,-1382.19:1276:664:572:16922:21090:664,572 . . . . . . . . . . . . chr14 23899060 . G A 7734.63 . AB=0.5;ABP=3.0103;AC=26;AF=0.5;AN=52;AO=599;CIGAR=1X;DP=28124;DPB=1198;DPRA=0;EPP=3.04293;EPPR=3.7898;GTI=0;LEN=1;MEANALT=3;MQM=35.3406;MQMR=34.2747;NS=1;NUMALT=1;ODDS=2094.57;PAIRED=0.856427;PAIREDR=0.818681;PAO=0;PQA=0;PQR=0;PRO=0;QA=16176;QR=16540;RO=546;RPL=354;RPP=46.0809;RPPR=46.0261;RPR=245;RUN=1;SAF=293;SAP=3.62295;SAR=306;SF=0,1;SRF=283;SRP=4.60112;SRR=263;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1062T:p.G354G;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0626;esp6500siv2_ea=0.0795;esp6500siv2_all=0.0626;esp6500siv2_ea=0.0795;1000g2015aug_all=0.0638978;avsnp147=rs735712;Kaviar_AF=0.0701091;Kaviar_AC=10839;Kaviar_AN=154602;ExAC_ALL=0.0704;ExAC_AFR=0.0261;ExAC_AMR=0.0375;ExAC_EAS=0.0670;ExAC_FIN=0.0549;ExAC_NFE=0.0779;ExAC_OTH=0.0640;ExAC_SAS=0.0996;CLNALLELEID=51989;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5088;dpsi_zscore=-1.100;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0703;gnomAD_exome_AFR=0.0251;gnomAD_exome_AMR=0.0442;gnomAD_exome_ASJ=0.0978;gnomAD_exome_EAS=0.0667;gnomAD_exome_FIN=0.0554;gnomAD_exome_NFE=0.0767;gnomAD_exome_OTH=0.0811;gnomAD_exome_SAS=0.1002;gnomAD_genome_ALL=0.0587;gnomAD_genome_AFR=0.0293;gnomAD_genome_AMR=0.0585;gnomAD_genome_ASJ=0.1167;gnomAD_genome_EAS=0.0630;gnomAD_genome_FIN=0.0607;gnomAD_genome_NFE=0.0738;gnomAD_genome_OTH=0.0594;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-934.918,0,-922.778:1198:546:599:16176:16540 . 0/1:-716.505,0,-936.114:1044:520:470:12886:15613 . . 0/1:-865.338,0,-1393.64:1429:754:616:16489:22615 . . 0/1:-723.004,0,-1053.96:1080:569:479:13021:17138 . . . . . . . . . . . 0/1:-888.481,0,-1127.83:1216:592:567:15747:18033 0/1:-487.998,0,-872.338:930:497:386:10103:14960 . . 0/1:-578.716,0,-664.558:837:402:389:10435:11843 . . 0/1:-1098.86,0,-1238.47:1458:685:704:19425:20612 0/1:-804.459,0,-1156.62:1252:635:564:15024:19020 . . . . . . 0/1:-534.858,0,-616.751:714:352:340:9411:10489 . . . 0/1:-778.889,0,-1217.94:1245:651:541:14518:19685 . . . . . . . . . . . . . . . . 0/1:-570.501,0,-567.056:758:348:371:9890:10406 . 0/1:-665.306,0,-773.466:917:433:439:11940:13058 0/1:-635.374,0,-718.347:918:434:436:11859:12707 0/1:-1106.06,0,-1270.15:1471:706:718:19573:21153 . . . . . 0/1:-871.001,0,-919.639:1155:534:566:15314:16036 . . . 0/1:-745.929,0,-1009.75:1080:540:493:13406:16687 . . . 0/1:-533.482,0,-754.626:786:398:360:9574:12315 0/1:-528.978,0,-567.301:725:327:360:9468:10027 . 0/1:-947.351,0,-1194.79:1348:673:628:16985:20125 . . . 0/1:-709.569,0,-1000.15:1068:539:488:12981:16286 0/1:-575.153,0,-871.361:876:449:389:10795:13812 0/1:-912.212,0,-1029.98:1222:566:601:16168:17467 . . . . . . . . . . . . . . 0/1:-1008.38,0,-1225.89:1190:593:571:16211:18890:593,571 . . . . 0/1:-800.472,0,-1101.8:999:520:458:13260:16584:520,458 0/1:-1097.89,0,-1080.81:1208:550:618:17607:17284:550,618 . . . . . . . chr14 23899793 . G A 7784.00 . AB=0.458836;ABP=16.4181;AC=16;AF=0.5;AN=30;AO=418;CIGAR=1X;DP=15337;DPB=911;DPRA=0;EPP=9.01562;EPPR=5.28518;GTI=0;LEN=1;MEANALT=3;MQM=35.0335;MQMR=36.8052;NS=1;NUMALT=1;ODDS=1485.72;PAIRED=0.944976;PAIREDR=0.922078;PAO=0;PQA=0;PQR=0;PRO=0;QA=11590;QR=13708;RO=462;RPL=159;RPP=54.9594;RPPR=41.0816;RPR=259;RUN=1;SAF=223;SAP=7.08311;SAR=195;SF=0,1;SRF=252;SRP=11.3014;SRR=210;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon11:c.C975T:p.D325D;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0210;esp6500siv2_ea=0.0290;esp6500siv2_all=0.0210;esp6500siv2_ea=0.0290;1000g2015aug_all=0.0145767;avsnp147=rs2231124;Kaviar_AF=0.0210541;Kaviar_AC=3255;Kaviar_AN=154602;ExAC_ALL=0.0209;ExAC_AFR=0.0046;ExAC_AMR=0.0211;ExAC_EAS=0;ExAC_FIN=0.0137;ExAC_NFE=0.0292;ExAC_OTH=0.0275;ExAC_SAS=0.0099;CLNALLELEID=52286;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0054;dpsi_zscore=0.037;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0204;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0170;gnomAD_exome_ASJ=0.0531;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0142;gnomAD_exome_NFE=0.0281;gnomAD_exome_OTH=0.0274;gnomAD_exome_SAS=0.0087;gnomAD_genome_ALL=0.0155;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0728;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0232;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-659.054,0,-856.222:911:462:418:11590:13708 . . . . . . . . . . . . . . . 1/1:-1395.11,-186.951,0:746:16:680:18348:324 . 0/1:-713.342,0,-1014.19:1013:528:442:12417:16330 . . 0/1:-772.08,0,-1260.88:1214:670:504:13923:20247 . . . . . . . . . . . . 0/1:-667.259,0,-1020.72:1014:535:427:11937:16236 . . . . . 0/1:-820.131,0,-1220.4:1231:657:526:14929:19898 0/1:-740.391,0,-921.534:993:487:465:12980:14829 0/1:-698.255,0,-1024.74:1006:547:432:12254:16553 . 0/1:-747.616,0,-1180.08:1134:613:469:13309:18829 . . . . . . . . 0/1:-937.57,0,-1328.4:1322:692:588:16478:20887 . . . . . 0/1:-869.754,0,-958.783:1106:522:539:14410:15973 0/1:-338.51,0,-650.919:616:355:239:6620:10915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-747.579,0,-1062.89:922:488:409:12028:15500:488,409 . 0/1:-885.968,0,-990.082:944:469:453:13734:14903:469,453 0/1:-896.112,0,-1366.09:1165:644:504:14514:20113:644,504 . . . . . . . . . . chr14 23900093 . C T 3185.35 . AB=0.490358;ABP=3.30342;AC=10;AF=0.5;AN=20;AO=178;CIGAR=1X;DP=4304;DPB=363;DPRA=0;EPP=4.23023;EPPR=18.7503;GTI=0;LEN=1;MEANALT=3;MQM=34.9213;MQMR=36.1302;NS=1;NUMALT=1;ODDS=644.025;PAIRED=0.988764;PAIREDR=0.988166;PAO=0;PQA=0;PQR=0;PRO=0;QA=5087;QR=4946;RO=169;RPL=69;RPP=22.5292;RPPR=7.64877;RPR=109;RUN=1;SAF=127;SAP=73.4734;SAR=51;SF=0;SRF=118;SRP=60.6892;SRR=51;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0091;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0091;1000g2015aug_all=0.0471246;avsnp147=rs45580436;Kaviar_AF=0.0225288;Kaviar_AC=3483;Kaviar_AN=154602;ExAC_ALL=0.0242;ExAC_AFR=0.0512;ExAC_AMR=0.0418;ExAC_EAS=0.0758;ExAC_FIN=0.0048;ExAC_NFE=0.0095;ExAC_OTH=0.0231;ExAC_SAS=0.0349;CLNALLELEID=186506;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6007;dpsi_zscore=1.228;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0237;gnomAD_exome_AFR=0.0502;gnomAD_exome_AMR=0.0382;gnomAD_exome_ASJ=0.0266;gnomAD_exome_EAS=0.0735;gnomAD_exome_FIN=0.0054;gnomAD_exome_NFE=0.0080;gnomAD_exome_OTH=0.0244;gnomAD_exome_SAS=0.0360;gnomAD_genome_ALL=0.0224;gnomAD_genome_AFR=0.0475;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0636;gnomAD_genome_FIN=0.0074;gnomAD_genome_NFE=0.0064;gnomAD_genome_OTH=0.0174;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-296.1,0,-298.421:363:169:178:5087:4946 . . . . . . . . . . . . . . . . . 0/1:-245.748,0,-328.347:361:186:161:4388:5333 . . . 0/1:-338.021,0,-410.202:454:230:212:5966:6854 . . . . . . . . . . 0/1:-434.801,0,-580.636:588:305:267:7408:9084 0/1:-327.763,0,-352.78:422:192:216:5508:5881 . . . . . . . . . . 0/1:-379.608,0,-441.068:484:248:229:6520:7162 . . . . . . . . . . . 0/1:-399.908,0,-294.275:418:173:232:6298:5093 . . . 0/1:-407.619,0,-442.167:501:238:239:6724:7335 . . . . . . . . . . . . . 0/1:-253.117,0,-285.036:333:165:151:4106:4773 . . . . 0/1:-288.035,0,-336.026:380:185:187:5056:5464 . . . . . . . . . . . . . . . . . . . . . . . . chr14 23900794 . G A 19152.97 . AB=0;ABP=0;AC=48;AF=1;AN=82;AO=1768;CIGAR=1X;DP=71478;DPB=1856;DPRA=0;EPP=118.015;EPPR=3.07234;GTI=0;LEN=1;MEANALT=3;MQM=34.2964;MQMR=35.3714;NS=1;NUMALT=1;ODDS=2158.23;PAIRED=0.899321;PAIREDR=0.942857;PAO=0;PQA=0;PQR=0;PRO=0;QA=52613;QR=980;RO=35;RPL=777;RPP=59.2573;RPPR=3.07234;RPR=991;RUN=1;SAF=844;SAP=10.8708;SAR=924;SF=0,1;SRF=19;SRP=3.56868;SRR=16;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;1000g2015aug_all=0.263778;avsnp147=rs2069542;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;ExAC_ALL=0.1836;ExAC_AFR=0.5481;ExAC_AMR=0.1034;ExAC_EAS=0.0711;ExAC_FIN=0.1112;ExAC_NFE=0.1618;ExAC_OTH=0.1707;ExAC_SAS=0.1873;CLNALLELEID=52273;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2270;dpsi_zscore=0.773;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1739;gnomAD_exome_AFR=0.5518;gnomAD_exome_AMR=0.1135;gnomAD_exome_ASJ=0.2162;gnomAD_exome_EAS=0.0691;gnomAD_exome_FIN=0.1102;gnomAD_exome_NFE=0.1604;gnomAD_exome_OTH=0.1892;gnomAD_exome_SAS=0.1896;gnomAD_genome_ALL=0.2555;gnomAD_genome_AFR=0.5406;gnomAD_genome_AMR=0.1435;gnomAD_genome_ASJ=0.2152;gnomAD_genome_EAS=0.0679;gnomAD_genome_FIN=0.1215;gnomAD_genome_NFE=0.1547;gnomAD_genome_OTH=0.1575;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . 1/1:-4004.76,-463.668,0:1856:35:1768:52613:980 . 0/1:-1182.41,0,-1455.02:1496:753:705:20495:23924 0/1:-1526.54,0,-1898.08:1950:985:907:26276:31018 . 1/1:-4348.3,-512.07,0:2015:37:1929:56710:1058 . . 1/1:-3620.97,-428.584,0:1654:25:1592:46539:761 . . . . . . . . . . . 1/1:-4387.32,-511.216,0:2000:31:1915:56212:932 0/1:-1026.65,0,-1353.63:1448:749:668:18988:23017 0/1:-1438.8,0,-2012.2:1948:1037:873:25384:32527 . 0/1:-1172.42,0,-1203:1436:681:723:20650:21245 . 0/1:-1316.02,0,-1383.34:1521:729:754:22034:22953 0/1:-1658.25,0,-1988.89:2072:1028:1000:29121:32780 0/1:-1764.38,0,-1931.47:2055:998:1005:29795:32059 . . . . . . 0/1:-1077.79,0,-1119.75:1218:581:614:17841:18192 . . . 0/1:-1444.27,0,-1476.14:1645:777:834:24536:24495 . . . 0/1:-931.29,0,-974.943:1043:512:512:15397:16056 . . . . . . . . . . . . 0/1:-813.219,0,-1143.27:1176:626:525:15017:19416 0/1:-1935.13,0,-2414.31:2436:1236:1139:33773:39050 0/1:-1410.01,0,-1692.34:1676:851:794:24111:26841 0/1:-994.381,0,-1145.95:1219:603:589:17206:18756 0/1:-1855.29,0,-2014.98:2160:1018:1098:31998:32579 0/1:-1738.68,0,-1736.61:1956:921:993:29442:29086 . 0/1:-1244.06,0,-1537.65:1542:782:722:21375:25015 . . 0/1:-1439.57,0,-1684.89:1767:878:840:24503:27834 . . . . 0/1:-1812.98,0,-2135.52:2229:1117:1064:31110:35317 0/1:-1628.97,0,-1903.68:1943:986:913:27565:30795 . 0/1:-974.638,0,-1099.31:1183:577:579:16778:18240 0/1:-1062.63,0,-1066.78:1241:582:630:18517:18097 . 0/1:-1830.57,0,-1970.9:2159:1049:1061:31310:32920 . 1/1:-3349.43,-394.838,0:1583:26:1503:43723:795 . 0/1:-1358.27,0,-1888.63:1783:952:799:23584:30071 0/1:-1137.84,0,-1139.14:1261:596:644:18928:18706 0/1:-1636.75,0,-1759.97:1965:940:989:28425:29162 0/1:-847.387,0,-1004.44:1052:527:499:14481:16259 . . . . . . . 0/1:-2399.61,0,-2261.62:2208:1052:1124:35567:33861:1052,1124 . . . . . 0/1:-1945.86,0,-2145.4:2035:1024:987:30195:32335:1024,987 . 0/1:-2009.42,0,-2095.69:1976:981:973:30879:31251:981,973 . 0/1:-2226.72,0,-2297.23:2192:1084:1080:34097:34385:1084,1080 0/1:-1657.21,0,-1516.11:1524:712:795:24701:22919:712,795 1/1:-4770.94,-496.859,0:1891:25:1842:57376:755:25,1842 0/1:-1769.37,0,-1930.34:1808:909:865:27362:28763:909,865 1/1:-5343.18,-564.028,0:2156:28:2095:64879:903:28,2095 . . . . . chr14 23901012 . T C 23195.70 . AB=0;ABP=0;AC=5;AF=1;AN=8;AO=2175;CIGAR=1X;DP=7703;DPB=2269;DPRA=0;EPP=13.6021;EPPR=9.79615;GTI=0;LEN=1;MEANALT=3;MQM=36.1269;MQMR=35.2812;NS=1;NUMALT=1;ODDS=2739.98;PAIRED=0.948506;PAIREDR=0.8125;PAO=0;PQA=0;PQR=0;PRO=0;QA=62389;QR=902;RO=32;RPL=1072;RPP=3.96974;RPPR=3.0103;RPR=1103;RUN=1;SAF=948;SAP=80.7251;SAR=1227;SF=0;SRF=15;SRP=3.28173;SRR=17;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon7:c.A597G:p.A199A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0147;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0147;1000g2015aug_all=0.00579073;avsnp147=rs2069541;Kaviar_AF=0.0110477;Kaviar_AC=1708;Kaviar_AN=154602;ExAC_ALL=0.0109;ExAC_AFR=0.0029;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0152;ExAC_OTH=0.0165;ExAC_SAS=0.0111;CLNALLELEID=52262;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4806;dpsi_zscore=1.113;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0103;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0157;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0116;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0127;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4991.45,-591.811,0:2269:32:2175:62389:902 . . . . . . . . 0/1:-1577.19,0,-1775.72:2013:1008:927:26460:28961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1015.81,0,-872.426:1118:500:560:16194:14515 . . . . . . . . . . 0/1:-1743.93,0,-2202.21:2303:1180:1031:29695:34834 . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23902321 . T C 563.11 . AB=0.401786;ABP=12.3942;AC=1;AF=0.5;AN=2;AO=45;CIGAR=1X;DP=112;DPB=112;DPRA=0;EPP=3.05855;EPPR=3.14602;GTI=0;LEN=1;MEANALT=3;MQM=34.5556;MQMR=32.875;NS=1;NUMALT=1;ODDS=129.661;PAIRED=0.933333;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=1219;QR=1949;RO=64;RPL=17;RPP=8.84915;RPPR=16.582;RPR=28;RUN=1;SAF=22;SAP=3.05855;SAR=23;SF=0;SRF=23;SRP=14.0034;SRR=41;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon4:c.A317G:p.K106R;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.762;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.889;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.42;MutationAssessor_pred=N;FATHMM_score=-2.37;FATHMM_pred=D;PROVEAN_score=-1.06;PROVEAN_pred=N;VEST3_score=0.648;CADD_raw=2.694;CADD_phred=20.8;DANN_score=0.998;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.067;MetaSVM_pred=T;MetaLR_score=0.612;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=3.76;phyloP7way_vertebrate=0.899;phyloP20way_mammalian=0.863;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=12.957;GDI_full_10282015=.;dpsi_max_tissue=-0.4466;dpsi_zscore=-1.036;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-63.5125,0,-115.902:112:64:45:1219:1949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 23902753 . G A 8705.00 . AB=0.561616;ABP=19.3336;AC=124;AF=0.5;AN=184;AO=278;CIGAR=1X;DP=56383;DPB=495;DPRA=0;EPP=3.0103;EPPR=11.5225;GTI=0;LEN=1;MEANALT=3;MQM=35.6007;MQMR=37.375;NS=1;NUMALT=1;ODDS=748.542;PAIRED=0.967626;PAIREDR=0.995;PAO=0;PQA=0;PQR=0;PRO=0;QA=8087;QR=6119;RO=200;RPL=94;RPP=66.2798;RPPR=76.0152;RPR=184;RUN=1;SAF=221;SAP=213.096;SAR=57;SF=0,1;SRF=163;SRP=175.382;SRR=37;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon3:c.C189T:p.T63T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.5275;esp6500siv2_ea=0.4841;esp6500siv2_all=0.5275;esp6500siv2_ea=0.4841;1000g2015aug_all=0.520367;avsnp147=rs2069540;Kaviar_AF=0.485375;Kaviar_AC=75040;Kaviar_AN=154602;ExAC_ALL=0.4888;ExAC_AFR=0.6284;ExAC_AMR=0.4253;ExAC_EAS=0.3692;ExAC_FIN=0.3972;ExAC_NFE=0.4780;ExAC_OTH=0.4415;ExAC_SAS=0.5906;CLNALLELEID=52039;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.8780;dpsi_zscore=-2.326;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4809;gnomAD_exome_AFR=0.6281;gnomAD_exome_AMR=0.4302;gnomAD_exome_ASJ=0.4674;gnomAD_exome_EAS=0.3746;gnomAD_exome_FIN=0.4046;gnomAD_exome_NFE=0.4796;gnomAD_exome_OTH=0.4901;gnomAD_exome_SAS=0.5851;gnomAD_genome_ALL=0.5085;gnomAD_genome_AFR=0.6281;gnomAD_genome_AMR=0.4510;gnomAD_genome_ASJ=0.4603;gnomAD_genome_EAS=0.3933;gnomAD_genome_FIN=0.4186;gnomAD_genome_NFE=0.4778;gnomAD_genome_OTH=0.4898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-504.381,0,-361.175:495:200:278:8087:6119 0/1:-736.425,0,-526.288:723:282:412:11826:8793 . . 1/1:-1676.64,-199.367,0:746:8:710:20766:246 . 0/1:-541.907,0,-357.04:535:212:303:8661:6243 0/1:-769.776,0,-518.972:746:303:420:12148:9272 . 1/1:-1835.65,-213.058,0:798:7:762:22625:229 1/1:-1408.25,-179.619,0:638:4:612:17438:103 . 1/1:-1643.45,-186.367,0:766:16:718:20531:433 . 0/1:-450.34,0,-452.827:500:231:255:7451:7143 1/1:-2335.03,-279.83,0:1062:11:1000:28985:294 . 0/1:-1432.19,0,-1086.76:1463:616:800:22879:18349 . 0/1:-505.693,0,-322.594:485:195:276:8039:5861 . 0/1:-778.592,0,-602.113:796:333:433:12495:10189 1/1:-1040.55,-135.464,0:472:0:450:13209:0 0/1:-794.212,0,-564.042:777:319:426:12346:9725 1/1:-2048.68,-244.001,0:917:10:871:25296:253 1/1:-1321.63,-168.398,0:603:3:579:16687:77 1/1:-1676.66,-193.061,0:760:12:717:20973:318 0/1:-677.217,0,-448.306:655:255:376:10632:7521 0/1:-596.242,0,-371.252:560:219:326:9479:6708 . 0/1:-483.222,0,-436.421:519:239:267:7831:7303 1/1:-1883.78,-239.108,0:849:4:808:23144:85 1/1:-1773.63,-219.59,0:799:8:757:21843:165 0/1:-675.582,0,-416.534:649:247:386:10717:7625 . 0/1:-794.139,0,-551.191:769:309:432:12581:9367 1/1:-2087.48,-266.051,0:947:4:908:26143:96 . 1/1:-1806,-222.501,0:827:5:782:22494:163 0/1:-481.171,0,-375.4:484:214:255:7661:6435 0/1:-778.886,0,-604.936:768:331:421:12333:10214 0/1:-772.033,0,-418.033:679:243:409:11683:7423 0/1:-772.344,0,-422.768:700:253:423:12087:7539 0/1:-588.247,0,-466.247:589:253:320:9341:7824 . 0/1:-768.594,0,-521.039:719:289:411:11906:8849 0/1:-666.185,0,-598.061:722:322:381:10828:9752 0/1:-364.029,0,-373.063:404:193:198:5925:6028 0/1:-523.437,0,-333.733:496:199:278:8099:5817 . . 0/1:-601.821,0,-435.299:601:255:327:9683:7739 1/1:-2008.7,-236.088,0:881:8:842:24779:244 . 0/1:-470.315,0,-380.62:511:223:274:7965:6693 0/1:-512.573,0,-363.411:498:202:282:8258:6166 . 0/1:-414.967,0,-267.955:411:160:232:6671:4907 . . 0/1:-385.806,0,-323.403:409:184:216:6211:5620 0/1:-793.537,0,-649.196:845:360:444:12958:10851 1/1:-1557.29,-191.031,0:694:5:672:19638:158 0/1:-439.398,0,-343.78:465:188:251:7152:5737 0/1:-832.535,0,-610.269:826:348:459:13365:10602 0/1:-648.982,0,-530.275:666:283:360:10361:8763 0/1:-353.02,0,-331.774:393:178:204:5850:5428 1/1:-1551.77,-188.333,0:700:6:660:19217:137 0/1:-696.992,0,-547.804:702:303:375:11272:9165 0/1:-739.176,0,-452.863:679:261:394:11568:8006 1/1:-1590.19,-194.573,0:714:7:685:19924:195 . 0/1:-768.364,0,-568.007:739:311:405:11924:9388 0/1:-438.425,0,-318.49:492:209:259:7393:5984 1/1:-1447.34,-176.168,0:635:4:606:17652:104 0/1:-892.425,0,-598.867:888:344:505:14266:10512 0/1:-763.859,0,-548.18:738:303:409:11972:9230 0/1:-739.739,0,-640.494:767:336:412:11852:10373 0/1:-406.39,0,-320.005:409:176:222:6409:5419 1/1:-891.243,-110.195,0:408:4:386:11247:109 1/1:-1776.87,-206.532,0:817:10:774:22413:343 1/1:-1926.57,-236.586,0:864:4:815:23806:113 . 1/1:-1634.32,-192.15,0:735:9:694:20136:228 0/1:-574.309,0,-409.561:578:244:317:9248:7242 1/1:-1552,-190.297,0:679:2:651:19205:72 0/1:-483.147,0,-337.625:472:191:266:7717:5856 0/1:-738.172,0,-487.82:702:282:400:11743:8720 1/1:-860.626,-113.187,0:394:0:376:10915:0 0/1:-616.277,0,-422.427:563:229:314:9517:6974 1/1:-2035.49,-233.586,0:955:19:890:25496:496 0/1:-608.429,0,-535.055:656:285:350:10053:8896 0/1:-804.681,0,-664.222:821:365:429:12758:11070 0/1:-768.144,0,-518.27:771:309:432:12248:9441 1/1:-1813.18,-227.078,0:817:8:779:22631:134 . 1/1:-1142.04,-117.028,0:473:8:452:13643:244:8,452 0/1:-326.878,0,-333.776:326:160:159:4918:4924:160,159 . 0/1:-256.472,0,-225.81:237:113:122:3793:3446:113,122 0/1:-328.527,0,-342.278:334:166:163:4973:5212:166,163 0/1:-382.741,0,-312.838:348:153:185:5645:4818:153,185 0/1:-330.232,0,-280.978:291:132:153:4890:4244:132,153 0/1:-352.867,0,-305.231:322:144:172:5249:4639:144,172 0/1:-345.69,0,-349.873:340:166:168:5221:5243:166,168 0/1:-422.936,0,-352.293:368:169:195:6177:5364:169,195 0/1:-399.194,0,-374.916:379:177:196:5971:5586:177,196 1/1:-715.963,-78.6224,0:285:3:275:8342:64:3,275 1/1:-774.995,-80.6426,0:317:5:305:9130:142:5,305 1/1:-902.87,-99.6776,0:359:3:350:10651:86:3,350 1/1:-968.887,-96.0035,0:382:6:366:11343:181:6,366 . 0/1:-387.526,0,-307.495:348:151:186:5677:4741:151,186 0/1:-281.063,0,-343.846:311:156:145:4299:4970:156,145 1/1:-739.801,-77.3503,0:285:2:276:8696:72:2,276 0/1:-445.087,0,-286.313:366:152:206:6413:4615:152,206 chr14 73637578 . G A 5281.02 . AB=0.465925;ABP=10.2616;AC=1;AF=0.5;AN=2;AO=335;CIGAR=1X;DP=719;DPB=719;DPRA=0;EPP=9.23951;EPPR=3.06566;GTI=0;LEN=1;MEANALT=3;MQM=36.0478;MQMR=35.4561;NS=1;NUMALT=1;ODDS=1216;PAIRED=0.928358;PAIREDR=0.866856;PAO=0;PQA=0;PQR=0;PRO=0;QA=9290;QR=10618;RO=353;RPL=101;RPP=117.671;RPPR=213.545;RPR=234;RUN=1;SAF=180;SAP=7.06155;SAR=155;SF=0;SRF=176;SRP=3.01645;SRR=177;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN1:NM_000021:exon4:c.G161A:p.R54Q,PSEN1:NM_007318:exon4:c.G149A:p.R50Q;cytoBand=14q24.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201216284;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=9.896e-05;ExAC_AFR=0;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.556;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-2.97;FATHMM_pred=D;PROVEAN_score=0.29;PROVEAN_pred=N;VEST3_score=0.373;CADD_raw=1.911;CADD_phred=15.65;DANN_score=0.975;fathmm-MKL_coding_score=0.644;fathmm-MKL_coding_pred=D;MetaSVM_score=0.623;MetaSVM_pred=D;MetaLR_score=0.850;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=0.016;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=8.039;GDI_full_10282015=.;dpsi_max_tissue=-0.0475;dpsi_zscore=-0.254;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.936e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-548.581,0,-638.645:719:353:335:9290:10618 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 73664718 . T C 5734.70 . AB=0.462932;ABP=10.2545;AC=23;AF=0.5;AN=42;AO=281;CIGAR=1X;DP=11174;DPB=607;DPRA=0;EPP=31.7649;EPPR=4.80352;GTI=0;LEN=1;MEANALT=3;MQM=37.8043;MQMR=38.5323;NS=1;NUMALT=1;ODDS=1202.57;PAIRED=0.967972;PAIREDR=0.967742;PAO=0;PQA=0;PQR=0;PRO=0;QA=8520;QR=9447;RO=310;RPL=106;RPP=39.8017;RPPR=7.74551;RPR=175;RUN=1;SAF=131;SAP=5.79999;SAR=150;SF=0,1;SRF=151;SRP=3.4586;SRR=159;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q24.2;genomicSuperDups=.;esp6500siv2_all=0.0372;esp6500siv2_ea=0.0523;esp6500siv2_all=0.0372;esp6500siv2_ea=0.0523;1000g2015aug_all=0.0189696;avsnp147=rs3025786;Kaviar_AF=0.0361444;Kaviar_AC=5588;Kaviar_AN=154602;ExAC_ALL=0.0443;ExAC_AFR=0.0088;ExAC_AMR=0.0272;ExAC_EAS=0.0004;ExAC_FIN=0.0315;ExAC_NFE=0.0703;ExAC_OTH=0.0393;ExAC_SAS=0.0136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1213;dpsi_zscore=-0.510;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0355;gnomAD_exome_AFR=0.0071;gnomAD_exome_AMR=0.0275;gnomAD_exome_ASJ=0.0324;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0279;gnomAD_exome_NFE=0.0552;gnomAD_exome_OTH=0.0436;gnomAD_exome_SAS=0.0120;gnomAD_genome_ALL=0.0332;gnomAD_genome_AFR=0.0097;gnomAD_genome_AMR=0.0442;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0240;gnomAD_genome_NFE=0.0516;gnomAD_genome_OTH=0.0347;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-536.9,0,-616.111:607:310:281:8520:9447 . . . 1/1:-2028.39,-200.788,0:838:17:798:24288:526 . . 0/1:-611.918,0,-661.629:649:330:313:9513:10034 . . . . . . . . 0/1:-559.041,0,-589.517:624:299:311:8898:9315 . . . . . 0/1:-658.12,0,-697.725:709:345:351:10292:10970 . 0/1:-473.979,0,-617.313:584:304:263:7755:9310 . . . . 0/1:-601.596,0,-736.579:681:358:314:9528:11275 0/1:-386.198,0,-345.79:388:175:205:5997:5503 . . . . 0/1:-386.783,0,-547.461:473:260:204:6221:8262 0/1:-321.153,0,-370.625:384:195:177:5241:5871 . . . . . . . . . . . . . . . . . . . . . 0/1:-471.181,0,-471.848:499:238:252:7432:7402 0/1:-422.048,0,-542.941:478:259:215:6577:8162 . 0/1:-268.552,0,-309.713:313:157:149:4475:4849 . . . . 0/1:-566.036,0,-564.91:578:279:288:8735:8720 . . 1/1:-1080.98,-111.005,0:419:5:408:12794:150:5,408 0/1:-358.478,0,-600.554:472:270:194:5942:8707:270,194 0/1:-631.836,0,-575.219:597:281:305:9553:8875:281,305 . . . . 0/1:-530.551,0,-445.907:494:224:261:8007:6977:224,261 0/1:-559.336,0,-484.692:511:240:266:8274:7592:240,266 . . . . . . . . . 0/1:-493.501,0,-497.716:480:238:235:7461:7502:238,235 0/1:-465.948,0,-354.451:396:172:217:6912:5503:172,217 chr14 73664853 . G T 8505.62 . AB=0.514938;ABP=4.11321;AC=139;AF=0.5;AN=188;AO=293;CIGAR=1X;DP=47127;DPB=569;DPRA=0;EPP=11.0811;EPPR=49.8272;GTI=0;LEN=1;MEANALT=2;MQM=37.8976;MQMR=38.5564;NS=1;NUMALT=1;ODDS=1228.76;PAIRED=0.962457;PAIREDR=0.96;PAO=0;PQA=0;PQR=0;PRO=0;QA=9027;QR=8634;RO=275;RPL=182;RPP=40.37;RPPR=21.9692;RPR=111;RUN=1;SAF=85;SAP=115.134;SAR=208;SF=0,1;SRF=80;SRP=107.438;SRR=195;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q24.2;genomicSuperDups=.;esp6500siv2_all=0.6193;esp6500siv2_ea=0.5613;esp6500siv2_all=0.6193;esp6500siv2_ea=0.5613;1000g2015aug_all=0.671526;avsnp147=rs165932;Kaviar_AF=0.58791;Kaviar_AC=90892;Kaviar_AN=154602;ExAC_ALL=0.6280;ExAC_AFR=0.7459;ExAC_AMR=0.7133;ExAC_EAS=0.6518;ExAC_FIN=0.5072;ExAC_NFE=0.5730;ExAC_OTH=0.5938;ExAC_SAS=0.7374;CLNALLELEID=255043;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2711;dpsi_zscore=0.848;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS962745#"Alzheimer_disease_late-onset_protection_association";gnomAD_exome_ALL=0.6082;gnomAD_exome_AFR=0.7457;gnomAD_exome_AMR=0.6913;gnomAD_exome_ASJ=0.5869;gnomAD_exome_EAS=0.6431;gnomAD_exome_FIN=0.4813;gnomAD_exome_NFE=0.5520;gnomAD_exome_OTH=0.5871;gnomAD_exome_SAS=0.7301;gnomAD_genome_ALL=0.5959;gnomAD_genome_AFR=0.7302;gnomAD_genome_AMR=0.6897;gnomAD_genome_ASJ=0.5867;gnomAD_genome_EAS=0.6176;gnomAD_genome_FIN=0.4774;gnomAD_genome_NFE=0.5399;gnomAD_genome_OTH=0.5663;Whole_Blood=Whole_Blood::0.401084::0.246426;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-576.195,0,-557.855:569:275:293:9027:8634 1/1:-1664.83,-187.286,0:650:3:642:20200:77 0/1:-563.932,0,-658.607:606:313:290:9021:10056 0/1:-351.38,0,-441.555:390:216:174:5595:6547 0/1:-492.412,0,-661.83:577:316:259:8161:9877 . 1/1:-1355.1,-145.702,0:534:6:528:16973:168 1/1:-1304.72,-132.697,0:530:12:517:16152:325 0/1:-464.078,0,-488.85:480:242:236:7248:7556 1/1:-1631.73,-170.373,0:641:9:627:19878:262 1/1:-1349.01,-147.789,0:534:6:527:16490:177 1/1:-1425.7,-150.746,0:578:11:566:17474:320 1/1:-1195.51,-128.316,0:473:7:464:14372:164 1/1:-984.207,-109.362,0:382:2:376:11771:50 0/1:-456.155,0,-551.764:502:266:234:7331:8304 0/1:-696.803,0,-898.715:780:420:358:11087:13279 1/1:-1194.59,-142.387,0:474:0:473:14321:0 0/1:-1086.22,0,-1065.15:1056:520:534:16692:16384 1/1:-1292.79,-140.191,0:496:5:490:15653:110 1/1:-944.251,-106.754,0:367:2:361:11420:28 0/1:-377.261,0,-422.634:396:201:193:5968:6352 . 1/1:-932.508,-100.433,0:362:3:356:11174:86 . 0/1:-613.298,0,-668.784:652:333:316:9792:10173 0/1:-505.239,0,-382.82:443:190:250:7748:6067 0/1:-521.999,0,-538.923:539:268:267:8236:8379 0/1:-612.372,0,-546.238:586:277:306:9488:8586 1/1:-1147.3,-131.184,0:464:5:458:13950:92 0/1:-356.082,0,-429.657:389:204:182:5768:6545 0/1:-434.21,0,-517.835:474:252:221:7001:7887 . 0/1:-557.887,0,-582.495:576:291:283:8869:9053 1/1:-1411.65,-145.961,0:561:8:547:17130:238 . 1/1:-1776.38,-186.564,0:703:9:689:21626:268 0/1:-722.229,0,-762.323:750:376:371:11518:11889 1/1:-1727.07,-170.991,0:658:10:645:20834:297 0/1:-529.334,0,-586.403:565:288:274:8427:8963 0/1:-421.681,0,-419.131:415:202:211:6524:6423 1/1:-1716.47,-194.047,0:679:6:668:20750:113 1/1:-1270.34,-135.55,0:510:8:500:15635:196 1/1:-1364.52,-150.822,0:525:3:521:16532:77 . 0/1:-755.135,0,-882.969:804:416:387:11929:13270 1/1:-1621.04,-174.009,0:633:6:623:19659:172 1/1:-1373.1,-152.16,0:533:5:525:16659:83 1/1:-979.577,-111.108,0:379:1:375:11661:36 . 0/1:-661.687,0,-658.304:657:332:325:10417:10252 1/1:-1460.46,-154.072,0:573:10:559:17800:248 . 0/1:-704.468,0,-683.55:684:337:343:10832:10601 1/1:-1455.94,-164.415,0:566:3:559:17528:60 1/1:-976.171,-106.915,0:376:3:371:11790:64 0/1:-554.276,0,-444.903:503:229:270:8554:7079 . 0/1:-290.836,0,-453.111:360:207:150:4729:6589 0/1:-483.461,0,-486.165:494:243:250:7809:7630 0/1:-573.439,0,-505.373:542:258:283:8778:8052 1/1:-847.986,-92.3004,0:337:3:332:10347:108 . 0/1:-509.629,0,-473.602:489:236:251:8003:7239 . 1/1:-1700.69,-185.302,0:651:3:643:20652:104 0/1:-634.491,0,-616.973:610:295:314:9657:9411 0/1:-293.541,0,-375.724:338:183:151:4659:5660 0/1:-653.303,0,-645.951:645:322:323:10398:9962 . . . 1/1:-1849.26,-193.478,0:715:7:706:22247:239 1/1:-1812.94,-184.172,0:702:12:689:21891:334 1/1:-768.91,-94.9681,0:336:3:327:9580:49 0/1:-554.647,0,-527.385:539:265:272:8586:8072 1/1:-1503.02,-165.77,0:581:4:572:18112:91 1/1:-1462.92,-157.611,0:572:7:562:17666:178 . 1/1:-1029.84,-118.284,0:398:1:396:12454:14 0/1:-356.74,0,-427.375:408:215:191:5805:6440 1/1:-1354.4,-153.007,0:539:4:529:16369:91 1/1:-1657.05,-190.406,0:652:3:645:19940:64 1/1:-1795.43,-191.208,0:699:8:687:21814:229 1/1:-1659.21,-179.971,0:643:8:632:20141:166 1/1:-1211.84,-132.071,0:485:7:472:14875:167 . . 1/1:-1609.73,-180.393,0:635:5:627:19442:132 0/1:-304.22,0,-371.627:364:195:166:5185:5885 1/1:-1570.48,-169.989,0:604:5:597:19056:127 0/1:-794.771,0,-888.71:820:418:399:12443:13319 0/1:-421.007,0,-563.376:488:266:219:6796:8446 . 0/1:-548.534,0,-672.002:621:330:287:8748:10066 0/1:-589.251,0,-747.554:670:359:308:9573:11116 . 0/1:-308.082,0,-252.675:264:122:142:4518:3814:122,142 0/1:-326.989,0,-281.991:293:138:154:4827:4309:138,154 . 1/1:-374.89,-26.7879,0:151:7:143:4630:221:7,143 0/1:-223.859,0,-236.084:232:116:116:3504:3648:116,116 1/1:-876.883,-89.899,0:330:4:325:10479:110:4,325 0/1:-233.454,0,-326.143:271:150:120:3700:4737:150,120 0/1:-305.311,0,-365.608:328:170:158:4919:5474:170,158 0/1:-264.319,0,-339.135:285:156:128:4114:4934:156,128 . 1/1:-676.896,-73.7944,0:260:3:256:8211:49:3,256 0/1:-313.277,0,-233.596:265:119:146:4691:3676:119,146 0/1:-235.701,0,-332.787:278:155:123:3808:5016:155,123 1/1:-635.872,-62.5363,0:250:4:244:7675:136:4,244 1/1:-757.782,-68.4958,0:295:7:285:9227:244:7,285 0/1:-258.213,0,-321.82:275:150:124:3978:4718:150,124 0/1:-287.239,0,-353.34:298:159:135:4460:5126:159,135 0/1:-298.08,0,-309.079:285:142:140:4484:4566:142,140 . 0/1:-242.025,0,-298.915:256:138:117:3799:4385:138,117 chr14 73673178 . A G 6757.23 . AB=0.472385;ABP=8.64694;AC=2;AF=0.5;AN=4;AO=402;CIGAR=1X;DP=1675;DPB=851;DPRA=0;EPP=13.4679;EPPR=5.24251;GTI=0;LEN=1;MEANALT=3;MQM=39.8582;MQMR=40.4219;NS=1;NUMALT=1;ODDS=1629.35;PAIRED=0.960199;PAIREDR=0.986014;PAO=0;PQA=0;PQR=0;PRO=0;QA=11134;QR=13275;RO=429;RPL=233;RPP=25.1356;RPPR=58.8156;RPR=169;RUN=1;SAF=190;SAP=5.62471;SAR=212;SF=0;SRF=193;SRP=12.3694;SRR=236;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN1:NM_000021:exon9:c.A953G:p.E318G,PSEN1:NM_007318:exon9:c.A941G:p.E314G;cytoBand=14q24.2;genomicSuperDups=.;esp6500siv2_all=0.0138;esp6500siv2_ea=0.0187;esp6500siv2_all=0.0138;esp6500siv2_ea=0.0187;1000g2015aug_all=0.00559105;avsnp147=rs17125721;Kaviar_AF=0.0145406;Kaviar_AC=2248;Kaviar_AN=154602;ExAC_ALL=0.0153;ExAC_AFR=0.0040;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0.0358;ExAC_NFE=0.0209;ExAC_OTH=0.0183;ExAC_SAS=0.0067;CLNALLELEID=103986;CLNDN=Frontotemporal_dementia|Alzheimer's_disease|Pick's_disease|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MedGen:C1843013,OMIM:607822|MedGen:C3151038,OMIM:613737|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.224;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.044;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.255;MutationAssessor_pred=N;FATHMM_score=-6.11;FATHMM_pred=D;PROVEAN_score=-1.01;PROVEAN_pred=N;VEST3_score=0.422;CADD_raw=2.110;CADD_phred=16.92;DANN_score=0.987;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=0.747;MetaSVM_pred=D;MetaLR_score=0.866;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.53;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.119;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.974;SiPhy_29way_logOdds=15.311;GDI_full_10282015=.;dpsi_max_tissue=-0.4897;dpsi_zscore=-1.081;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM000421#"Alzheimer_disease_association_with";gnomAD_exome_ALL=0.0146;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0060;gnomAD_exome_ASJ=0.0250;gnomAD_exome_EAS=5.804e-05;gnomAD_exome_FIN=0.0335;gnomAD_exome_NFE=0.0186;gnomAD_exome_OTH=0.0177;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0167;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0341;gnomAD_genome_NFE=0.0231;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-719.09,0,-895.636:851:429:402:11134:13275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-654.408,0,-925.776:824:450:367:10489:13701 . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 76425517 . C T 2773.37 . AB=0.485411;ABP=3.70724;AC=1;AF=0.5;AN=2;AO=183;CIGAR=1X;DP=377;DPB=377;DPRA=0;EPP=3.59173;EPPR=13.8677;GTI=0;LEN=1;MEANALT=3;MQM=34.7869;MQMR=35.35;NS=1;NUMALT=1;ODDS=638.592;PAIRED=0.939891;PAIREDR=0.972222;PAO=0;PQA=0;PQR=0;PRO=0;QA=5130;QR=5771;RO=180;RPL=48;RPP=92.8238;RPPR=76.4061;RPR=135;RUN=1;SAF=123;SAP=50.1063;SAR=60;SF=0;SRF=138;SRP=114.19;SRR=42;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TGFB3;GeneDetail.refGene=NM_003239:c.*13G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q24.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs375846390;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.295e-05;ExAC_AFR=9.612e-05;ExAC_AMR=8.639e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.655e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.477e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.456e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.661e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-298.547,0,-337.933:377:180:183:5130:5771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 76425518 . G A 4169.00 . AB=0.502193;ABP=3.02935;AC=1;AF=0.5;AN=2;AO=229;CIGAR=1X;DP=456;DPB=456;DPRA=0;EPP=3.77838;EPPR=3.02049;GTI=0;LEN=1;MEANALT=3;MQM=39.5328;MQMR=39.4085;NS=1;NUMALT=1;ODDS=959.949;PAIRED=0.973799;PAIREDR=0.971831;PAO=0;PQA=0;PQR=0;PRO=0;QA=6751;QR=6790;RO=213;RPL=59;RPP=119.843;RPPR=43.4731;RPR=170;RUN=1;SAF=148;SAP=45.5768;SAR=81;SF=1;SRF=152;SRP=87.4327;SRR=61;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TGFB3;GeneDetail.refGene=NM_003239:c.*12C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770734544;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.625e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.686e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-440.791,0,-439.697:456:213:229:6751:6790:213,229 . . . . . . . . . . . . . . . chr14 76432050 . G C 9033.61 . AB=0.490431;ABP=3.67525;AC=2;AF=0.5;AN=4;AO=410;CIGAR=1X;DP=1998;DPB=836;DPRA=0;EPP=4.04837;EPPR=6.37797;GTI=0;LEN=1;MEANALT=3;MQM=35.4073;MQMR=37.6526;NS=1;NUMALT=1;ODDS=1591.85;PAIRED=0.97561;PAIREDR=0.942928;PAO=0;PQA=0;PQR=0;PRO=0;QA=11684;QR=12125;RO=403;RPL=228;RPP=14.2172;RPPR=8.18843;RPR=182;RUN=1;SAF=152;SAP=62.5192;SAR=258;SF=0;SRF=163;SRP=34.9573;SRR=240;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TGFB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q24.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.00119808;avsnp147=rs61762490;Kaviar_AF=0.0007891;Kaviar_AC=122;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0.0052;CLNALLELEID=373175;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1189;dpsi_zscore=-0.504;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0057;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-706.34,0,-754.096:836:403:410:11684:12125 . . . . . . . . . . . . . . . . . . . . . . 0/1:-1143.86,0,-976.769:1162:535:609:17803:16229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 90863487 . GCG GCA 5646.17 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=256;CIGAR=2M1X;DP=274;DPB=283;DPRA=0;EPP=19.4321;EPPR=5.18177;GTI=0;LEN=1;MEANALT=6;MQM=38.7188;MQMR=24;NS=1;NUMALT=1;ODDS=389.531;PAIRED=0.929688;PAIREDR=0;PAO=14;PQA=329;PQR=293;PRO=13;QA=6994;QR=27;RO=1;RPL=140;RPP=7.89611;RPPR=5.18177;RPR=116;RUN=1;SAF=210;SAP=231.151;SAR=46;SF=1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5\x3bUTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86del-;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-594.346,-91.3132,0:274:1:256:6994:27:1,256 . . chr14 90863488 . CG CA 4409.41 . AB=0;ABP=0;AC=10;AF=1;AN=10;AO=125;CIGAR=1M1X;DP=1073;DPB=133;DPRA=0;EPP=4.41741;EPPR=3.0103;GTI=0;LEN=1;MEANALT=4;MQM=37.32;MQMR=31.5;NS=1;NUMALT=1;ODDS=164.935;PAIRED=0.904;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3564;QR=50;RO=2;RPL=61;RPP=3.16665;RPPR=3.0103;RPR=64;RUN=1;SAF=111;SAP=166.461;SAR=14;SF=1;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5\x3bUTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86del-;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-288.238,-34.0986,0:133:2:125:3564:50:2,125 1/1:-557.766,-71.2729,0:256:2:241:6925:28:2,241 . . 1/1:-465.609,-59.0019,0:211:0:196:5583:0:0,196 . . 1/1:-543.453,-68.5674,0:258:3:238:6723:79:3,238 . . 1/1:-476.153,-60.075,0:215:1:205:5810:25:1,205 . . . . . . chr14 90863489 . GGCA AGCA 2804.48 . AB=0;ABP=0;AC=166;AF=1;AN=204;AO=187;CIGAR=1X;DP=25493;DPB=214;DPRA=0;EPP=18.9073;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=30.6364;MQMR=15.25;NS=1;NUMALT=1;ODDS=251.857;PAIRED=0.951872;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4319;QR=56;RO=4;RPL=119;RPP=33.2135;RPPR=11.6962;RPR=68;RUN=1;SAF=150;SAP=151.286;SAR=37;SF=0,1;SRF=4;SRP=11.6962;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;genomicSuperDups=.;esp6500siv2_all=0.7892;esp6500siv2_ea=0.8852;esp6500siv2_all=0.7892;esp6500siv2_ea=0.8852;1000g2015aug_all=0.716054;avsnp147=rs12886342;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7794;gnomAD_genome_AFR=0.5566;gnomAD_genome_AMR=0.8007;gnomAD_genome_ASJ=0.8311;gnomAD_genome_EAS=0.8205;gnomAD_genome_FIN=0.8573;gnomAD_genome_NFE=0.8792;gnomAD_genome_OTH=0.8514;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:214:4:187:4319:56 . 1/1:.,.,0:219:6:196:4982:84 0/1:.,.,-169.441:189:98:78:1916:2914 . 0/1:.,.,-278.139:365:176:158:3928:5282 1/1:.,.,0:207:12:173:4173:208 1/1:.,.,0:283:11:246:6039:220 0/1:.,.,-196.812:225:119:97:2257:3552 0/1:.,.,-210.677:282:135:129:3226:3945 1/1:.,.,0:241:8:210:5009:130 0/1:.,.,-213.657:256:135:103:2321:4018 0/1:.,.,-212.071:260:124:107:2391:3679 1/1:.,.,0:227:16:186:4380:246 0/1:.,.,-105.941:185:76:96:2332:2235 . 1/1:.,.,0:206:13:160:3799:222 1/1:.,.,0:525:22:441:10528:321 1/1:.,.,0:229:16:184:4601:326 0/1:.,.,-197.614:266:118:135:3464:3545 1/1:.,.,0:220:6:191:4814:84 1/1:.,.,0:280:18:226:5073:321 . 1/1:.,.,0:326:14:276:6601:196 1/1:.,.,0:233:12:197:4921:248 0/1:.,.,-221.111:258:139:96:2475:4045 1/1:.,.,0:244:13:208:5140:239 0/1:.,.,-143.22:197:89:95:2469:2680 0/1:.,.,-239.956:237:139:82:1976:4145 1/1:.,.,0:208:9:165:3995:126 1/1:.,.,0:195:6:175:4549:84 1/1:.,.,0:330:15:274:6838:223 . 1/1:.,.,0:177:9:143:3517:162 0/1:.,.,-253.428:267:147:109:2595:4446 1/1:.,.,0:342:9:290:6893:157 . 1/1:.,.,0:256:6:229:5603:91 0/1:.,.,-240.547:284:157:102:2394:4560 0/1:.,.,-158.023:175:87:70:1685:2715 1/1:.,.,0:341:13:291:7113:200 0/1:.,.,-211.928:272:133:118:2891:3917 1/1:.,.,0:244:12:205:4992:208 1/1:.,.,0:237:10:197:4904:166 1/1:.,.,0:339:15:287:7357:298 0/1:.,.,-180.161:189:101:77:1972:3220 0/1:.,.,-232.481:291:152:125:3051:4464 0/1:.,.,-123.413:180:86:81:1925:2384 1/1:.,.,0:158:7:137:3482:98 0/1:.,.,-248.372:334:155:163:3993:4440 0/1:.,.,-359.858:360:203:141:3385:6139 1/1:.,.,0:280:14:226:5329:253 0/1:.,.,-333.319:366:197:147:3724:5849 1/1:.,.,0:321:10:273:6517:158 1/1:.,.,0:165:11:137:3314:176 1/1:.,.,0:290:11:225:5209:154 1/1:.,.,0:267:5:221:5318:70 1/1:.,.,0:154:5:130:3019:132 1/1:.,.,0:137:1:123:3094:32 1/1:.,.,0:203:7:182:4450:160 0/1:.,.,-128.03:148:78:56:1383:2367 0/1:.,.,-259.872:339:171:151:3825:4997 0/1:.,.,-160.168:221:104:89:2226:3150 1/1:.,.,0:154:8:130:3354:156 1/1:.,.,0:351:14:301:7257:261 0/1:.,.,-230.735:274:138:117:2761:4099 1/1:.,.,0:136:8:115:2735:148 1/1:.,.,0:278:14:233:5694:262 1/1:.,.,0:213:14:171:4239:203 0/1:.,.,-191.872:232:112:109:2647:3364 0/1:.,.,-195.522:211:115:79:1793:3539 1/1:.,.,0:267:15:224:5487:228 0/1:.,.,-361.198:347:194:130:3163:5951 0/1:.,.,-135.439:153:87:54:1269:2523 1/1:.,.,0:194:7:167:4268:120 0/1:.,.,-253.381:288:156:104:2422:4562 1/1:.,.,0:288:12:252:6219:199 1/1:.,.,0:300:9:258:6346:170 1/1:.,.,0:151:4:127:3048:74 1/1:.,.,0:91:2:79:1890:28 0/1:.,.,-230.542:274:133:117:2861:4073 0/1:.,.,-283.081:310:168:116:2923:4976 1/1:.,.,0:275:15:234:5586:258 1/1:.,.,0:234:12:191:4560:278 1/1:.,.,0:228:10:198:5044:160 1/1:.,.,0:202:8:173:4555:119 . 0/1:.,.,-155.873:246:115:110:2712:3426 1/1:.,.,0:163:13:135:3257:182 0/1:.,.,-219.909:273:138:121:3141:4217 0/1:.,.,-344.471:419:213:179:4293:6282 1/1:.,.,0:233:17:188:4558:256 1/1:.,.,0:302:13:259:6207:248 1/1:.,.,0:292:20:243:5688:384 0/1:.,.,-221.904:292:140:127:2857:4318 . 0/1:.,.,-236.378:225:115:105:3055:3601:115,105 1/1:.,.,0:225:2:214:5937:28:2,214 0/1:.,.,-329.917:293:156:130:3651:4992:156,130 . . 1/1:.,.,0:227:4:213:6102:56:4,213 1/1:.,.,0:219:6:200:5794:159:6,200 . 1/1:.,.,0:275:3:258:7471:42:3,258 1/1:.,.,0:212:1:205:5702:14:1,205 . 1/1:.,.,0:206:3:190:5247:42:3,190 1/1:.,.,0:221:1:206:5834:14:1,206 . 1/1:-554.506,-69.3801,0:273:5:234:6528:125:5,234 1/1:-437.565,-62.5141,0:208:1:179:5053:15:1,179 1/1:.,.,0:293:3:281:8070:64:3,281 . 1/1:.,.,0:275:0:264:7470:0:0,264 1/1:.,.,0:226:3:215:6357:64:3,215 chr14 90863643 . TTTTGTTTGT TTTTGT 2677.33 . AB=0.38715;ABP=70.1542;AC=1;AF=0.5;AN=2;AO=235;CIGAR=1M4D5M;DP=607;DPB=513.6;DPRA=0;EPP=9.74648;EPPR=18.3322;GTI=0;LEN=4;MEANALT=69;MQM=35.0128;MQMR=38.652;NS=1;NUMALT=1;ODDS=616.477;PAIRED=0.957447;PAIREDR=0.96;PAO=7.5;PQA=190;PQR=223;PRO=10.5;QA=4778;QR=7606;RO=250;RPL=130;RPP=8.78549;RPPR=26.4969;RPR=105;RUN=1;SAF=142;SAP=25.1963;SAR=93;SF=0;SRF=145;SRP=16.9077;SRR=105;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-278.6,0,-510.51:607:250:235:4778:7606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr14 90866346 . C T 11277.92 . AB=0.460403;ABP=13.1565;AC=121;AF=0.5;AN=178;AO=343;CIGAR=1X;DP=66054;DPB=745;DPRA=0;EPP=46.6233;EPPR=15.0387;GTI=0;LEN=1;MEANALT=3;MQM=39.2245;MQMR=39.8822;NS=1;NUMALT=1;ODDS=1429.1;PAIRED=0.959184;PAIREDR=0.968586;PAO=0;PQA=0;PQR=0;PRO=0;QA=9964;QR=11487;RO=382;RPL=142;RPP=25.0479;RPPR=66.8811;RPR=201;RUN=1;SAF=150;SAP=14.716;SAR=193;SF=0,1;SRF=198;SRP=4.12446;SRR=184;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;genomicSuperDups=.;esp6500siv2_all=0.5022;esp6500siv2_ea=0.6245;esp6500siv2_all=0.5022;esp6500siv2_ea=0.6245;1000g2015aug_all=0.484425;avsnp147=rs2268433;Kaviar_AF=0.117618;Kaviar_AC=18184;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1048;dpsi_zscore=0.498;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5084;gnomAD_genome_AFR=0.2167;gnomAD_genome_AMR=0.5274;gnomAD_genome_ASJ=0.6523;gnomAD_genome_EAS=0.7794;gnomAD_genome_FIN=0.5967;gnomAD_genome_NFE=0.6196;gnomAD_genome_OTH=0.5787;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-635.801,0,-765.529:745:382:343:9964:11487 . . . . . 1/1:-1845.43,-198.766,0:763:9:736:21696:288 0/1:-823.591,0,-640.426:786:340:428:12345:9978 . 0/1:-866.824,0,-614.802:797:335:439:12755:9955 1/1:-1649.59,-178.086,0:708:14:684:19770:382 0/1:-721.374,0,-644.908:718:335:361:10765:9905 0/1:-667.313,0,-641.875:709:329:363:10134:9890 1/1:-1413.8,-151.899,0:617:14:587:16897:335 0/1:-693.249,0,-450.552:614:252:348:10210:7398 . 0/1:-607.6,0,-688.34:686:339:325:9473:10343 0/1:-1197.04,0,-1023.34:1178:537:614:17944:15782 1/1:-1657.87,-181.299,0:689:10:665:19504:329 . 1/1:-1231.23,-133.161,0:529:9:511:14541:272 1/1:-1879.02,-212.792,0:780:7:760:22260:204 . 0/1:-940.058,0,-749.001:861:378:463:13788:11394 0/1:-689.616,0,-555.572:701:304:373:10432:8850 0/1:-579.032,0,-504.364:596:267:307:8703:7922 0/1:-737.259,0,-605.645:731:327:382:11031:9531 0/1:-710.634,0,-680.522:735:354:362:10709:10357 0/1:-590.762,0,-534.864:618:281:318:9015:8238 0/1:-644.895,0,-471.721:608:260:333:9753:7527 . 0/1:-1034.95,0,-892.542:1036:477:527:15434:13912 . 1/1:-1998.76,-230.808,0:842:7:819:23596:231 . 0/1:-702.786,0,-757.243:787:387:378:10879:11461 . 1/1:-2092.83,-235.346,0:836:5:818:24549:145 0/1:-686.47,0,-659.046:734:344:371:10515:10157 0/1:-439.523,0,-493.163:494:245:238:6850:7354 1/1:-2476.11,-289.739,0:992:5:973:28723:70 0/1:-613.042,0,-593.664:639:301:324:9249:9092 1/1:-1701.13,-194.987,0:714:6:692:19928:172 1/1:-1875.37,-224.211,0:765:1:748:21824:14 0/1:-991.084,0,-1013.01:1058:509:521:15020:15404 0/1:-859.208,0,-632.157:811:343:448:12814:10131 0/1:-720.316,0,-852.184:841:429:391:11310:12706 0/1:-383.465,0,-384.653:401:197:195:5769:5756 1/1:-1701.97,-195.813,0:699:6:680:19718:135 0/1:-982.986,0,-692.451:891:367:498:14563:10964 . 1/1:-1991.96,-233.051,0:828:6:809:23637:199 0/1:-974.983,0,-914.967:973:461:482:14582:13886 0/1:-953.779,0,-752.249:912:394:483:14159:11821 . 1/1:-1485.23,-178.812,0:612:0:594:17347:0 0/1:-722.911,0,-676.914:727:341:369:10876:10400 1/1:-1295.44,-144.585,0:550:6:529:15439:198 . . 0/1:-509.489,0,-501.713:533:260:263:7778:7700 0/1:-872.109,0,-909.162:958:468:460:13324:13792 0/1:-595.968,0,-554.194:622:290:309:9039:8453 0/1:-528.722,0,-520.271:570:274:285:8141:8019 1/1:-2284,-256.447,0:960:12:936:26828:339 0/1:-688.491,0,-712.75:730:355:356:10495:10760 0/1:-471.7,0,-558.961:553:282:249:7348:8312 1/1:-2024.51,-223.18,0:827:8:805:23816:244 0/1:-564.385,0,-572.134:595:286:299:8646:8653 . . 1/1:-2446.34,-262.7,0:987:10:962:28692:340 0/1:-1028.68,0,-812.897:973:419:528:15347:12534 0/1:-355.493,0,-376.725:451:218:219:5727:5938 0/1:-664.726,0,-624.49:696:326:350:10180:9609 0/1:-804.643,0,-767.471:843:403:408:12238:11782 1/1:-2060.37,-241.263,0:829:2:817:23980:68 1/1:-2287.21,-248.692,0:964:15:932:26950:435 0/1:-541.054,0,-465.949:533:241:273:8117:7190 0/1:-423.53,0,-470.547:483:240:227:6481:7090 . 0/1:-792.775,0,-649.084:782:353:415:11932:10206 1/1:-1941.53,-227.934,0:803:5:783:22626:137 0/1:-683.092,0,-528.317:663:282:356:10121:8430 0/1:-566.021,0,-485.277:585:261:304:8620:7676 0/1:-663.344,0,-507.813:636:283:337:10012:8226 . . 1/1:-995.647,-117.703,0:400:0:391:11503:0 . 0/1:-903.889,0,-1114.27:1072:539:504:14292:16522 0/1:-692.008,0,-557.968:655:293:347:10213:8693 1/1:-2474.86,-289.435,0:987:2:966:28688:35 0/1:-814.674,0,-685.744:803:355:424:12339:10687 0/1:-716.356,0,-767.371:788:389:386:11090:11591 . . 1/1:-2045.28,-210.946,0:763:6:748:23771:181:6,748 0/1:-1024.23,0,-831.119:869:394:466:14763:12574:394,466 1/1:-1118.09,-113.8,0:426:4:415:13074:140:4,415 0/1:-711.688,0,-674.403:651:317:325:10376:10009:317,325 1/1:-2322.32,-235.3,0:867:10:849:27062:262:10,849 0/1:-966.031,0,-630.674:753:309:435:13731:9861:309,435 . 0/1:-898.654,0,-698.109:738:332:399:12803:10531:332,399 0/1:-806.648,0,-633.615:681:307:370:11649:9592:307,370 1/1:-2075.55,-195.465,0:809:17:779:24375:500:17,779 1/1:-1699.52,-180.295,0:628:2:618:19744:72:2,618 0/1:-891.355,0,-742.235:769:351:410:12926:11111:351,410 1/1:-2167.9,-234.997,0:804:2:787:25104:28:2,787 0/1:-805.145,0,-762.406:739:359:375:11975:11347:359,375 . 1/1:-2276.66,-226.371,0:842:8:826:26476:280:8,826 1/1:-2068.1,-218.392,0:754:2:741:23909:59:2,741 1/1:-1919.68,-206.015,0:704:2:697:22141:50:2,697 0/1:-783.878,0,-641.463:665:301:355:11341:9642:301,355 chr14 90867764 . A G 8365.58 . AB=0.474627;ABP=8.6302;AC=1;AF=0.5;AN=2;AO=477;CIGAR=1X;DP=1005;DPB=1005;DPRA=0;EPP=6.32897;EPPR=20.0768;GTI=0;LEN=1;MEANALT=3;MQM=38.3585;MQMR=38.2535;NS=1;NUMALT=1;ODDS=1926.25;PAIRED=0.960168;PAIREDR=0.948515;PAO=0;PQA=0;PQR=0;PRO=0;QA=13774;QR=15786;RO=505;RPL=328;RPP=148.872;RPPR=95.9278;RPR=149;RUN=1;SAF=173;SAP=81.1332;SAR=304;SF=0;SRF=189;SRP=72.3641;SRR=316;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=.;esp6500siv2_all=0.0005;esp6500siv2_ea=.;1000g2015aug_all=0.00159744;avsnp147=rs201018787;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0023;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=373234;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1151;dpsi_zscore=-0.493;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-867.782,0,-1022.6:1005:505:477:13774:15786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 35083494 . T C 4154.19 . AB=0.555977;ABP=17.3536;AC=1;AF=0.5;AN=2;AO=293;CIGAR=1X;DP=527;DPB=527;DPRA=0;EPP=49.2634;EPPR=41.6545;GTI=0;LEN=1;MEANALT=3;MQM=33.9659;MQMR=36.3935;NS=1;NUMALT=1;ODDS=705.715;PAIRED=0.78157;PAIREDR=0.842593;PAO=0;PQA=0;PQR=0;PRO=0;QA=8636;QR=6585;RO=216;RPL=293;RPP=639.252;RPPR=454.837;RPR=0;RUN=1;SAF=107;SAP=49.2634;SAR=186;SF=0;SRF=79;SRP=36.829;SRR=137;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTC1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACTC1:NM_005159:exon6:c.A811G:p.M271V;cytoBand=15q14;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.314;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.125;MutationAssessor_pred=L;FATHMM_score=-3.42;FATHMM_pred=D;PROVEAN_score=-1.88;PROVEAN_pred=N;VEST3_score=0.942;CADD_raw=1.818;CADD_phred=15.09;DANN_score=0.932;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_pred=D;MetaSVM_score=0.540;MetaSVM_pred=D;MetaLR_score=0.799;MetaLR_pred=D;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.924;SiPhy_29way_logOdds=15.888;GDI_full_10282015=.;dpsi_max_tissue=0.1663;dpsi_zscore=0.653;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM106923#"Cardiomyopathy_non-compaction_left_ventricular";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-521.603,0,-382.97:527:216:293:8636:6585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 35085501 . G A 10155.70 . AB=0.513423;ABP=4.87573;AC=1;AF=0.5;AN=2;AO=612;CIGAR=1X;DP=1192;DPB=1192;DPRA=0;EPP=89.3583;EPPR=22.2165;GTI=0;LEN=1;MEANALT=3;MQM=32.732;MQMR=33.2852;NS=1;NUMALT=1;ODDS=2075.23;PAIRED=0.903595;PAIREDR=0.925993;PAO=0;PQA=0;PQR=0;PRO=0;QA=19061;QR=17214;RO=554;RPL=176;RPP=242.866;RPPR=360.496;RPR=436;RUN=1;SAF=370;SAP=61.1433;SAR=242;SF=0;SRF=304;SRP=14.4399;SRR=250;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTC1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTC1:NM_005159:exon3:c.C399T:p.A133A;cytoBand=15q14;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764630691;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.649e-05;ExAC_AFR=0;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=376392;CLNDN=Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified;CLNDISDB=MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4246;dpsi_zscore=1.051;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.843e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.955e-06;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1063.58,0,-950.689:1192:554:612:19061:17214 . . . . . . . . . . . . . . . . . . . . . . chr15 48704843 . C T 4658.78 . AB=0.550868;ABP=12.068;AC=1;AF=0.5;AN=2;AO=222;CIGAR=1X;DP=403;DPB=403;DPRA=0;EPP=18.6606;EPPR=6.59633;GTI=0;LEN=1;MEANALT=3;MQM=40.0405;MQMR=40.7257;NS=1;NUMALT=1;ODDS=809.876;PAIRED=0.95045;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6958;QR=5599;RO=175;RPL=145;RPP=48.2395;RPPR=49.182;RPR=77;RUN=1;SAF=96;SAP=11.8136;SAR=126;SF=1;SRF=71;SRP=16.5231;SRR=104;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon65:c.G8149A:p.E2717K;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs187553035;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=242059;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=0.893;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.2;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.285;MutationAssessor_pred=M;FATHMM_score=-1.55;FATHMM_pred=D;PROVEAN_score=-2.38;PROVEAN_pred=N;VEST3_score=0.723;CADD_raw=6.215;CADD_phred=28.7;DANN_score=0.999;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.073;MetaSVM_pred=T;MetaLR_score=0.479;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.959;SiPhy_29way_logOdds=18.926;GDI_full_10282015=.;dpsi_max_tissue=-1.4561;dpsi_zscore=-1.697;hgmdCODING=HGMD::Marfan_syndrome#11700157;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-480.474,0,-365.542:403:175:222:6958:5599:175,222 . chr15 48707820 . G A 9981.90 . AB=0.478691;ABP=8.19275;AC=1;AF=0.5;AN=2;AO=629;CIGAR=1X;DP=1314;DPB=1314;DPRA=0;EPP=15.0276;EPPR=13.4547;GTI=0;LEN=1;MEANALT=3;MQM=35.3434;MQMR=37.5736;NS=1;NUMALT=1;ODDS=2298.42;PAIRED=0.880763;PAIREDR=0.883436;PAO=0;PQA=0;PQR=0;PRO=0;QA=17477;QR=20177;RO=652;RPL=261;RPP=42.5352;RPPR=90.4154;RPR=368;RUN=1;SAF=342;SAP=13.4534;SAR=287;SF=0;SRF=389;SRP=55.885;SRR=263;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon64:c.C7964T:p.A2655V;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000599042;avsnp147=rs202240409;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0017;CLNALLELEID=195506;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.512;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.515;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.5;MutationAssessor_pred=N;FATHMM_score=-2.21;FATHMM_pred=D;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.525;CADD_raw=2.466;CADD_phred=19.25;DANN_score=0.989;fathmm-MKL_coding_score=0.249;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.646;MetaSVM_pred=T;MetaLR_score=0.434;MetaLR_pred=T;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.914;phastCons20way_mammalian=0.843;SiPhy_29way_logOdds=14.448;GDI_full_10282015=.;dpsi_max_tissue=0.0453;dpsi_zscore=0.276;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=7.184e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1012.63,0,-1268.72:1314:652:629:17477:20177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48712876 . T G 3740.98 . AB=0.441426;ABP=20.5627;AC=8;AF=0.5;AN=16;AO=260;CIGAR=1X;DP=3979;DPB=589;DPRA=0;EPP=3.14393;EPPR=3.1182;GTI=0;LEN=1;MEANALT=2;MQM=38.4077;MQMR=38.5;NS=1;NUMALT=1;ODDS=1054.21;PAIRED=0.934615;PAIREDR=0.903727;PAO=0;PQA=0;PQR=0;PRO=0;QA=7610;QR=9357;RO=322;RPL=121;RPP=5.71629;RPPR=3.1182;RPR=139;RUN=1;SAF=125;SAP=3.84548;SAR=135;SF=0;SRF=160;SRP=3.03727;SRR=162;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0211;esp6500siv2_ea=0.0099;esp6500siv2_all=0.0211;esp6500siv2_ea=0.0099;1000g2015aug_all=0.0491214;avsnp147=rs363838;Kaviar_AF=0.0254719;Kaviar_AC=3938;Kaviar_AN=154602;ExAC_ALL=0.0268;ExAC_AFR=0.0404;ExAC_AMR=0.0591;ExAC_EAS=0.0796;ExAC_FIN=0.0129;ExAC_NFE=0.0102;ExAC_OTH=0.0165;ExAC_SAS=0.0414;CLNALLELEID=51603;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.9794;dpsi_zscore=-2.151;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0262;gnomAD_exome_AFR=0.0377;gnomAD_exome_AMR=0.0534;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0.0743;gnomAD_exome_FIN=0.0107;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0252;gnomAD_exome_SAS=0.0396;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0379;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0556;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0082;gnomAD_genome_OTH=0.0184;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-467.038,0,-612.631:589:322:260:7610:9357 . . . . . . . 0/1:-247.111,0,-311.949:314:161:145:4060:4957 . . . . . . . . . . . . . . . . . . . 0/1:-411.406,0,-566.829:551:294:249:7053:8684 . . . . . . . . . . . . . . . . . . . 0/1:-376.053,0,-448.468:463:236:217:6067:6976 . . 0/1:-378.312,0,-646.03:552:315:224:6402:9530 . . . 0/1:-420.518,0,-459.785:502:245:246:6828:7233 . . . . 0/1:-353.204,0,-546.889:522:284:226:6173:8274 . . . . . 0/1:-410.764,0,-415.119:486:233:247:6835:6553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48720526 . G C 9664.59 . AB=0.533917;ABP=7.57657;AC=175;AF=0.5;AN=220;AO=244;CIGAR=1X;DP=62455;DPB=457;DPRA=0;EPP=3.0103;EPPR=4.5431;GTI=0;LEN=1;MEANALT=3;MQM=35.9713;MQMR=36.7402;NS=1;NUMALT=1;ODDS=780.944;PAIRED=0.983607;PAIREDR=0.946078;PAO=0;PQA=0;PQR=0;PRO=0;QA=7011;QR=5984;RO=204;RPL=109;RPP=9.02635;RPPR=41.3304;RPR=135;RUN=1;SAF=119;SAP=3.33068;SAR=125;SF=0,1;SRF=114;SRP=9.14152;SRR=90;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.6784;esp6500siv2_ea=0.7771;esp6500siv2_all=0.6784;esp6500siv2_ea=0.7771;1000g2015aug_all=0.65595;avsnp147=rs363832;Kaviar_AF=0.731129;Kaviar_AC=113034;Kaviar_AN=154602;ExAC_ALL=0.7404;ExAC_AFR=0.4737;ExAC_AMR=0.7988;ExAC_EAS=0.6464;ExAC_FIN=0.7537;ExAC_NFE=0.7660;ExAC_OTH=0.7555;ExAC_SAS=0.8065;CLNALLELEID=141015;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1013;dpsi_zscore=-0.453;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7472;gnomAD_exome_AFR=0.4624;gnomAD_exome_AMR=0.7906;gnomAD_exome_ASJ=0.8060;gnomAD_exome_EAS=0.6394;gnomAD_exome_FIN=0.7426;gnomAD_exome_NFE=0.7679;gnomAD_exome_OTH=0.7587;gnomAD_exome_SAS=0.8094;gnomAD_genome_ALL=0.6718;gnomAD_genome_AFR=0.4800;gnomAD_genome_AMR=0.7847;gnomAD_genome_ASJ=0.7616;gnomAD_genome_EAS=0.6314;gnomAD_genome_FIN=0.7437;gnomAD_genome_NFE=0.7594;gnomAD_genome_OTH=0.7219;Whole_Blood=Whole_Blood::0.273713::0.362184;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-438.629,0,-351.053:457:204:244:7011:5984 1/1:-1640.63,-196.187,0:710:7:688:20116:178 0/1:-481.048,0,-540.544:566:293:264:7915:8792 1/1:-907.052,-114.445,0:392:1:380:11088:14 . 1/1:-1600.72,-195.273,0:694:7:670:19747:120 0/1:-401.427,0,-435.48:489:246:231:6688:7148 1/1:-1573.48,-187.876,0:667:7:646:19109:129 1/1:-1241.21,-155.011,0:535:1:518:14999:14 1/1:-1537.33,-189.488,0:676:7:654:18917:120 0/1:-383.234,0,-473.353:497:257:228:6593:7732 1/1:-1149.83,-142.257,0:499:3:482:14223:42 1/1:-1190.41,-144.474,0:512:5:493:14766:88 0/1:-338.92,0,-410.207:442:222:209:5914:6851 1/1:-1035.3,-127.28,0:448:2:432:12725:46 0/1:-715.215,0,-901.111:886:449:413:12052:13940 0/1:-258.391,0,-396.071:388:215:166:4757:6398 1/1:-3003.12,-372.237,0:1269:3:1242:36940:42 0/1:-518.307,0,-547.771:592:284:291:8540:8682 0/1:-293.922,0,-419.833:405:216:180:5045:6585 0/1:-405.529,0,-428.002:462:233:218:6477:7146 0/1:-543.115,0,-590.355:642:316:309:9131:9737 1/1:-693.587,-88.9089,0:322:3:311:8775:64 1/1:-1714.22,-215.185,0:738:3:724:20958:62 0/1:-472.754,0,-596.798:590:318:265:7827:9454 1/1:-954.434,-119.324,0:446:7:432:12153:177 1/1:-1405.08,-178.703,0:627:6:606:17470:109 0/1:-665.063,0,-598.245:693:322:363:10646:9894 1/1:-853.348,-109.818,0:408:8:388:11016:172 1/1:-1025.8,-120.687,0:443:5:428:12697:117 1/1:-1083.93,-135.609,0:479:3:463:13274:64 1/1:-1520.8,-185.501,0:669:7:646:18882:138 1/1:-1372.49,-170.337,0:581:2:570:16617:28 1/1:-366.689,-45.7041,0:175:2:170:4799:68 0/1:-475.773,0,-640.444:599:318:270:7828:9745 1/1:-1397.4,-176.469,0:622:4:605:17380:78 0/1:-253.539,0,-224.713:272:124:144:4232:3784 0/1:-502.242,0,-617.962:596:311:273:8173:9840 1/1:-1184.71,-147.906,0:543:9:521:14973:202 0/1:-233.092,0,-236.189:252:122:125:3676:3799 1/1:-1484.47,-182.311,0:652:9:635:18203:190 1/1:-1165.94,-143.229,0:517:7:502:14444:142 1/1:-1389.61,-168.849,0:600:5:586:17207:114 1/1:-1346.25,-163.794,0:599:9:579:16673:173 0/1:-587.811,0,-714.149:739:368:347:9916:11243 0/1:-486.003,0,-601.029:604:316:280:8413:9487 0/1:-419.742,0,-613.112:594:333:250:7202:9941 1/1:-859.109,-107.527,0:365:1:357:10616:14 0/1:-443.502,0,-495.443:524:266:250:7473:7926 1/1:-1680.74,-210.48,0:719:2:706:20716:41 1/1:-1487.6,-176.777,0:642:9:623:18300:201 1/1:-1084.01,-139.281,0:503:7:486:13778:142 1/1:-1563,-179.648,0:691:12:670:19605:331 1/1:-1509.61,-189.426,0:676:5:655:18859:139 . 1/1:-962.733,-114.738,0:418:7:401:11707:98 1/1:-1610.15,-197.911,0:680:3:665:19453:49 1/1:-640.05,-80.3022,0:311:5:295:8312:142 . 0/1:-446.313,0,-526.035:546:284:251:7335:8420 1/1:-779.951,-90.1302,0:370:9:350:9921:223 . 0/1:-458.124,0,-609.85:594:319:259:7807:9364 1/1:-725.333,-87.4404,0:337:8:321:9233:130 0/1:-634.957,0,-745.72:773:378:367:10406:11792 0/1:-488.961,0,-658.468:635:338:285:8324:10212 0/1:-248.185,0,-206.321:285:124:153:4125:3580 0/1:-506.719,0,-489.609:555:265:275:8153:8096 1/1:-1181.16,-137.985,0:502:7:484:14510:133 1/1:-1259.88,-153.61,0:535:2:523:15467:50 0/1:-403.763,0,-434.692:483:235:239:6842:7257 1/1:-1710.05,-205.889,0:744:6:718:21036:155 1/1:-1536.28,-183.589,0:654:7:638:18775:133 1/1:-745.83,-103.514,0:363:1:345:9699:14 0/1:-435.222,0,-512.87:528:278:241:7118:8198 1/1:-1529.48,-184.498,0:682:11:658:18857:248 1/1:-1320.39,-155.913,0:587:9:563:16336:248 1/1:-1486.63,-187.075,0:650:2:633:18375:46 0/1:-374.554,0,-454.68:464:237:220:6213:7171 1/1:-691.159,-84.7027,0:313:5:298:8602:114 0/1:-523.75,0,-577.439:618:305:299:8755:9390 1/1:-1451.55,-173.276,0:625:6:609:17850:145 0/1:-497.386,0,-676.441:663:351:293:8414:10893 1/1:-1186.82,-143.377,0:527:8:510:14821:196 1/1:-1065.3,-134.997,0:472:2:460:13388:46 . 1/1:-1101.16,-126.292,0:477:7:462:13382:171 0/1:-546.996,0,-607.46:640:323:306:8922:9734 0/1:-258.034,0,-294.421:300:156:138:4213:4697 1/1:-1231.6,-155.359,0:545:3:526:15182:60 1/1:-1730.6,-207.651,0:741:4:717:21237:113 1/1:-1141.11,-135.388,0:502:4:484:14064:140 1/1:-1480.51,-177.762,0:607:3:599:17821:100 1/1:-1572.65,-179.387,0:667:9:648:19408:214 1/1:-1416.85,-160.087,0:629:10:606:17644:295 . 0/1:-718.162,0,-902.693:774:410:350:10998:13129:410,350 0/1:-571.001,0,-822.378:655:371:280:8848:11731:371,280 1/1:-1840.08,-199.364,0:686:3:678:21485:64:3,678 1/1:-930.028,-101.861,0:362:2:355:10904:63:2,355 1/1:-1476.78,-160.233,0:556:2:545:17238:50:2,545 0/1:-722.39,0,-978.984:814:446:362:11403:14370:446,362 0/1:-640.064,0,-688.66:631:325:303:9685:10248:325,303 0/1:-758.873,0,-642.435:671:310:350:11152:9751:310,350 0/1:-737.542,0,-607.719:641:297:337:10760:9227:297,337 0/1:-619.571,0,-614.468:593:289:295:9221:9089:289,295 0/1:-816.833,0,-878.725:798:405:380:12132:12775:405,380 1/1:-1172.66,-125.401,0:452:4:440:13789:118:4,440 1/1:-1516.98,-162.854,0:571:4:558:17625:78:4,558 0/1:-552.739,0,-733.626:626:342:280:8663:10804:342,280 1/1:-1821.76,-199.816,0:700:3:686:21323:86:3,686 0/1:-552.923,0,-750.42:632:341:282:8809:10842:341,282 0/1:-757.285,0,-860.005:768:399:360:11475:12672:399,360 1/1:-1583.59,-170.519,0:615:4:598:18703:122:4,598 1/1:-1616.77,-172.465,0:602:2:592:18846:72:2,592 1/1:-1468.52,-148.21,0:578:10:553:17437:271:10,553 chr15 48720652 . C T 7053.57 . AB=0.489286;ABP=4.12706;AC=8;AF=0.5;AN=16;AO=548;CIGAR=1X;DP=7876;DPB=1120;DPRA=0;EPP=56.3303;EPPR=33.2394;GTI=0;LEN=1;MEANALT=3;MQM=36.3832;MQMR=35.4778;NS=1;NUMALT=1;ODDS=1992.45;PAIRED=0.959854;PAIREDR=0.901734;PAO=0;PQA=0;PQR=0;PRO=0;QA=14893;QR=15199;RO=519;RPL=220;RPP=49.2294;RPPR=4.21946;RPR=328;RUN=1;SAF=310;SAP=23.5521;SAR=238;SF=0;SRF=320;SRP=64.2676;SRR=199;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon57:c.G6888A:p.Q2296Q;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0509185;avsnp147=rs363830;Kaviar_AF=0.0285443;Kaviar_AC=4413;Kaviar_AN=154602;ExAC_ALL=0.0296;ExAC_AFR=0.0409;ExAC_AMR=0.0596;ExAC_EAS=0.0796;ExAC_FIN=0.0153;ExAC_NFE=0.0149;ExAC_OTH=0.0166;ExAC_SAS=0.0416;CLNALLELEID=51583;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.2409;dpsi_zscore=2.043;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0739;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0306;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0553;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-913.793,0,-882.781:1120:519:548:14893:15199 . . . . . . . 0/1:-445.756,0,-581.571:635:312:287:7612:9347 . . . . . . . . . . . . . . . . . . . 0/1:-810.973,0,-1110.44:1152:602:500:13778:17677 . . . . . . . . . . . . . . . . . . . 0/1:-740.889,0,-732.107:898:400:452:12019:12018 . . 0/1:-787.059,0,-921.098:1066:513:502:13169:15035 . . . 0/1:-659.984,0,-952.252:982:515:423:11594:14998 . . . . 0/1:-797.978,0,-886.166:1058:504:502:13484:14895 . . . . . 0/1:-603.607,0,-1001.43:965:524:390:10623:15617 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48722884 . A G 9785.33 . AB=0.448247;ABP=30.8806;AC=8;AF=0.5;AN=16;AO=537;CIGAR=1X;DP=9014;DPB=1198;DPRA=0;EPP=15.2425;EPPR=22.1254;GTI=0;LEN=1;MEANALT=3;MQM=37.8957;MQMR=38.9061;NS=1;NUMALT=1;ODDS=2151.31;PAIRED=0.951583;PAIREDR=0.940532;PAO=0;PQA=0;PQR=0;PRO=0;QA=15696;QR=19650;RO=639;RPL=212;RPP=54.6444;RPPR=70.5706;RPR=325;RUN=1;SAF=332;SAP=68.2313;SAR=205;SF=0;SRF=390;SRP=70.5706;SRR=249;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon56:c.T6855C:p.D2285D;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0511182;avsnp147=rs363836;Kaviar_AF=0.0285507;Kaviar_AC=4414;Kaviar_AN=154602;ExAC_ALL=0.0297;ExAC_AFR=0.0409;ExAC_AMR=0.0597;ExAC_EAS=0.0797;ExAC_FIN=0.0153;ExAC_NFE=0.0149;ExAC_OTH=0.0165;ExAC_SAS=0.0417;CLNALLELEID=51582;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2273;dpsi_zscore=0.774;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0741;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0309;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0551;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-957.235,0,-1300.16:1198:639:537:15696:19650 . . . . . . . 0/1:-632.093,0,-667.11:705:342:339:9910:10335 . . . . . . . . . . . . . . . . . . . 0/1:-1170.24,0,-1395.61:1327:681:623:18792:21083 . . . . . . . . . . . . . . . . . . . 0/1:-933.628,0,-883.599:981:461:492:14500:14009 . . 0/1:-1232.5,0,-1246.56:1279:631:626:18957:19289 . . . 0/1:-1054.91,0,-1221.51:1175:600:554:16498:18628 . . . . 0/1:-1220.47,0,-1174.2:1283:601:657:19024:18629 . . . . . 0/1:-810.274,0,-1134.92:1066:573:461:13434:17210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48725121 . T G 9189.23 . AB=0.481346;ABP=7.14197;AC=3;AF=0.5;AN=6;AO=658;CIGAR=1X;DP=3047;DPB=1367;DPRA=0;EPP=58.7822;EPPR=74.4771;GTI=0;LEN=1;MEANALT=3;MQM=38.4985;MQMR=39.1353;NS=1;NUMALT=1;ODDS=2900.6;PAIRED=0.911854;PAIREDR=0.930199;PAO=0;PQA=0;PQR=0;PRO=0;QA=19906;QR=22478;RO=702;RPL=336;RPP=3.65712;RPPR=3.31963;RPR=322;RUN=1;SAF=320;SAP=4.07954;SAR=338;SF=0;SRF=353;SRP=3.05979;SRR=349;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon55:c.A6681C:p.S2227S;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0014;1000g2015aug_all=0.000798722;avsnp147=rs363824;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0005;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0015;ExAC_OTH=0;ExAC_SAS=0.0010;CLNALLELEID=51578;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8850;dpsi_zscore=-1.862;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . 0/1:-1273.99,0,-1490.65:1367:702:658:19906:22478 . . . . . . . . . . . . . . . . . . . . . 0/1:-1249.68,0,-1486.33:1340:686:642:19463:22264 . . . . . . . . . 0/1:-268.87,0,-394.563:340:188:150:4439:5935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48725206 . T A 9425.80 . AB=0.480302;ABP=7.03107;AC=8;AF=0.5;AN=16;AO=573;CIGAR=1X;DP=8632;DPB=1193;DPRA=0;EPP=162.271;EPPR=52.306;GTI=0;LEN=1;MEANALT=3;MQM=38.7696;MQMR=39.34;NS=1;NUMALT=1;ODDS=2407.09;PAIRED=0.972077;PAIREDR=0.953566;PAO=0;PQA=0;PQR=0;PRO=0;QA=17011;QR=18542;RO=603;RPL=339;RPP=44.7912;RPPR=5.261;RPR=234;RUN=1;SAF=361;SAP=87.1444;SAR=212;SF=0;SRF=387;SRP=108.311;SRR=216;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0507188;avsnp147=rs363823;Kaviar_AF=0.0285313;Kaviar_AC=4411;Kaviar_AN=154602;ExAC_ALL=0.0296;ExAC_AFR=0.0409;ExAC_AMR=0.0596;ExAC_EAS=0.0798;ExAC_FIN=0.0153;ExAC_NFE=0.0148;ExAC_OTH=0.0166;ExAC_SAS=0.0417;CLNALLELEID=255253;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4081;dpsi_zscore=1.031;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0741;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0154;gnomAD_exome_OTH=0.0307;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0393;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0553;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0206;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1082.56,0,-1215.99:1193:603:573:17011:18542 . . . . . . . 0/1:-697.973,0,-911.816:824:430:378:11342:13554 . . . . . . . . . . . . . . . . . . . 0/1:-1115.49,0,-1250.94:1199:602:578:17396:18830 . . . . . . . . . . . . . . . . . . . 0/1:-886.169,0,-1152.24:1071:572:488:14524:17198 . . 0/1:-1161.31,0,-1093.04:1140:547:582:17567:16977 . . . 0/1:-968.66,0,-1032.52:1047:522:503:15119:16082 . . . . 0/1:-1006.52,0,-1184.28:1146:581:545:16005:18028 . . . . . 0/1:-827.506,0,-1137.31:1012:553:445:13285:16941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48729648 . T C 18624.15 . AB=0.480505;ABP=5.889;AC=209;AF=0.5;AN=230;AO=419;CIGAR=1X;DP=97325;DPB=872;DPRA=0;EPP=3.43008;EPPR=5.63892;GTI=0;LEN=1;MEANALT=3;MQM=39.0191;MQMR=40.1625;NS=1;NUMALT=1;ODDS=1857.62;PAIRED=0.966587;PAIREDR=0.990847;PAO=0;PQA=0;PQR=0;PRO=0;QA=12705;QR=13487;RO=437;RPL=159;RPP=55.8771;RPPR=55.7269;RPR=260;RUN=1;SAF=227;SAP=9.35888;SAR=192;SF=0,1;SRF=234;SRP=7.78555;SRR=203;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.9008;esp6500siv2_ea=0.8866;esp6500siv2_all=0.9008;esp6500siv2_ea=0.8866;1000g2015aug_all=0.930112;avsnp147=rs2042746;Kaviar_AF=0.173478;Kaviar_AC=26820;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2521;dpsi_zscore=-0.779;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.8841;gnomAD_genome_AFR=0.9374;gnomAD_genome_AMR=0.9451;gnomAD_genome_ASJ=0.9404;gnomAD_genome_EAS=0.9634;gnomAD_genome_FIN=0.8121;gnomAD_genome_NFE=0.8599;gnomAD_genome_OTH=0.8364;Whole_Blood=Whole_Blood::0.120596::0.370594;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-819.931,0,-903.044:872:437:419:12705:13487 1/1:-2882.41,-332.528,0:1140:2:1111:33631:28 1/1:-2271.78,-264.96,0:898:1:880:26658:14 1/1:-1652.31,-191.455,0:650:0:636:19214:0 1/1:-2268.36,-264.466,0:940:6:910:26485:128 1/1:-2673.86,-311.781,0:1080:5:1048:31318:70 1/1:-2023.82,-228.578,0:828:6:794:23625:150 1/1:-2511.95,-282.718,0:999:5:973:29444:132 1/1:-2050.02,-239.877,0:827:3:801:24024:42 1/1:-2524.82,-295.97,0:1047:6:1002:29406:84 1/1:-2364.56,-269.533,0:966:7:929:27906:151 1/1:-2381.71,-277.244,0:956:2:924:27937:28 1/1:-2114.41,-247.222,0:877:4:840:24653:78 1/1:-2093.06,-238.391,0:857:4:823:24661:122 1/1:-2155.7,-252.772,0:864:2:844:25201:28 1/1:-3158.52,-358.496,0:1257:6:1214:36912:106 0/1:-686.535,0,-910.213:825:433:372:10833:13408 1/1:-4139.31,-478.012,0:1641:2:1598:48056:41 1/1:-2453.74,-280.044,0:973:3:946:28502:64 0/1:-778.14,0,-742.773:761:373:378:11632:11441 0/1:-771.107,0,-782.136:773:382:379:11887:11899 1/1:-2772.4,-321.98,0:1107:3:1079:32344:42 1/1:-1623.42,-187.05,0:652:4:630:19048:56 1/1:-2719.48,-310.497,0:1082:4:1045:31667:100 1/1:-2510.22,-286.619,0:1009:4:979:29247:114 1/1:-2053.21,-236.175,0:839:3:809:24178:99 1/1:-2477.14,-289.771,0:1000:3:972:28800:42 1/1:-2940.24,-343.776,0:1172:0:1142:34177:0 1/1:-1675.33,-186.453,0:671:5:657:19794:154 1/1:-1634.54,-183.655,0:662:5:636:19051:105 1/1:-1953.11,-232.854,0:812:4:786:22937:56 1/1:-2678.3,-312.723,0:1082:2:1054:31149:63 1/1:-2637.22,-300.102,0:1054:5:1016:30777:88 1/1:-558.629,-56.0645,0:233:5:224:6678:145 0/1:-1005.77,0,-1126.67:1083:538:517:15394:16713 1/1:-2694.99,-311.733,0:1087:4:1046:31558:56 1/1:-812.068,-93.5992,0:332:3:325:9684:86 1/1:-2631.53,-301.351,0:1043:4:1020:30791:78 1/1:-2194.32,-265.333,0:911:3:889:25615:49 0/1:-297.787,0,-445.556:365:205:153:4695:6359 1/1:-2984.62,-347.24,0:1194:1:1163:34751:36 1/1:-1924.71,-222.967,0:775:2:745:22538:28 1/1:-1904.73,-221.437,0:772:3:745:22284:42 1/1:-2756.1,-305.777,0:1108:8:1060:32269:178 1/1:-2905.84,-336.184,0:1164:5:1126:33912:70 0/1:-956.766,0,-1065.42:1024:511:496:14624:16009 0/1:-846.546,0,-1089.4:977:503:451:13307:15987 1/1:-1433.64,-165.409,0:571:1:559:16823:36 1/1:-1992.12,-228.171,0:804:3:777:23202:82 1/1:-2806.21,-323.645,0:1123:3:1087:32616:55 1/1:-2533.94,-294.388,0:1021:1:981:29563:14 1/1:-2160.24,-259.029,0:915:5:871:25614:70 1/1:-2944.14,-340.006,0:1174:2:1141:34492:46 1/1:-2515.68,-289.094,0:1030:6:990:29676:137 1/1:-1702.15,-202.892,0:709:4:687:20085:69 1/1:-2062.45,-238.604,0:815:3:800:24082:42 1/1:-2387.59,-274.823,0:958:3:919:27791:42 1/1:-1377.73,-160.675,0:567:3:550:16412:82 0/1:-540.267,0,-913.509:743:427:304:8920:13258 0/1:-724.643,0,-1010.57:864:462:382:11393:14741 1/1:-1606.83,-181.313,0:664:5:635:18926:136 0/1:-1103.13,0,-1365.11:1233:639:568:17056:19947 1/1:-1799.72,-207.163,0:725:3:702:21084:64 1/1:-1653.81,-185.17,0:685:7:659:19515:195 1/1:-2925.06,-333.481,0:1148:3:1114:34279:42 0/1:-834.104,0,-961.111:915:461:430:12867:14436 1/1:-1452.38,-169.347,0:604:4:584:17136:96 0/1:-852.55,0,-1093.78:993:514:454:13401:16267 1/1:-1743.38,-203.931,0:710:3:687:20422:42 1/1:-2440.52,-276.324,0:992:5:960:28608:161 1/1:-2240.35,-263.408,0:919:3:888:26456:67 1/1:-2530.23,-274.211,0:1001:7:969:29473:222 1/1:-2528.84,-288.621,0:984:2:965:29606:28 1/1:-1491.62,-185.996,0:655:3:627:17610:42 1/1:-2043.23,-235.898,0:824:2:790:23747:28 1/1:-2713.46,-300.163,0:1119:12:1075:32052:336 1/1:-2522.55,-286.12,0:1023:6:987:29406:168 1/1:-2503.02,-287.603,0:1000:4:968:29243:56 0/1:-626.744,0,-780.516:687:361:307:9580:11640 1/1:-1514.73,-169.384,0:603:4:588:17894:100 0/1:-1022.14,0,-930.128:984:453:506:15265:14266 1/1:-2511.97,-288.595,0:1011:4:980:29515:91 1/1:-2589.29,-303.328,0:1037:2:1014:30403:28 1/1:-2189.68,-250.458,0:880:4:849:25722:78 1/1:-2141.28,-256.063,0:896:2:860:25226:72 0/1:-710.44,0,-891.758:814:422:358:10878:13155 1/1:-1875.31,-217.925,0:758:4:737:21900:69 1/1:-2704.69,-309.551,0:1099:5:1063:31553:136 1/1:-1495.85,-168.454,0:609:3:587:17440:104 1/1:-2532.24,-297.006,0:1030:2:993:29641:28 1/1:-2942.93,-330.464,0:1206:11:1159:34516:275 1/1:-2070.27,-237.308,0:823:2:802:24169:53 1/1:-2602.47,-302.48,0:1033:1:1008:30322:14 1/1:-2224.95,-260.426,0:893:1:865:25971:32 1/1:-2349.45,-262.875,0:946:6:916:27679:177 . 0/1:-716.646,0,-710.127:665:317:335:10501:10464:317,335 1/1:-1413.69,-152.768,0:545:3:535:16561:104:3,535 1/1:-1817.88,-202.292,0:682:0:672:21095:0:0,672 1/1:-899.554,-102.049,0:344:0:339:10403:0:0,339 1/1:-1489.27,-166.169,0:560:0:552:17215:0:0,552 0/1:-661.576,0,-817.078:695:369:319:9996:11843:369,319 0/1:-524.497,0,-629.853:552:290:248:7889:9087:290,248 1/1:-1630.76,-170.746,0:620:6:605:18988:150:6,605 1/1:-1372.93,-154.428,0:524:0:513:15880:0:0,513 1/1:-1432.89,-159.828,0:551:1:534:16592:14:1,534 1/1:-1554.91,-164.803,0:595:4:581:18193:127:4,581 1/1:-1291.78,-139.607,0:484:2:474:14980:41:2,474 1/1:-1274.97,-138.474,0:494:2:478:14822:68:2,478 1/1:-1468.3,-154.238,0:558:4:543:17050:118:4,543 1/1:-1518.23,-166.903,0:585:2:571:17727:63:2,571 0/1:-539.773,0,-564.519:534:269:254:8006:8486:269,254 0/1:-581.742,0,-696.189:626:323:289:8813:10235:323,289 1/1:-1433.04,-152.473,0:548:4:534:16629:107:4,534 1/1:-1583.13,-172.551,0:598:3:589:18312:64:3,589 1/1:-1403.01,-148.042,0:527:3:514:16295:86:3,514 chr15 48740936 . GAAAAAAAT GAAAAAAAAT 3228.33 . AB=0.400538;ABP=66.9403;AC=8;AF=0.5;AN=16;AO=298;CIGAR=1M1I8M;DP=5222;DPB=791.889;DPRA=0;EPP=129.976;EPPR=211.472;GTI=0;LEN=1;MEANALT=35;MQM=40.1779;MQMR=41.0208;NS=1;NUMALT=1;ODDS=837.829;PAIRED=0.993289;PAIREDR=0.989583;PAO=11.5;PQA=244.5;PQR=244.5;PRO=11.5;QA=6906;QR=10834;RO=384;RPL=111;RPP=45.099;RPPR=18.3011;RPR=187;RUN=1;SAF=164;SAP=9.56844;SAR=134;SF=0;SRF=226;SRP=29.1584;SRR=158;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0177;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0177;1000g2015aug_all=0.0425319;avsnp147=rs55649234;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;ExAC_ALL=0.0289;ExAC_AFR=0.0158;ExAC_AMR=0.0602;ExAC_EAS=0.0848;ExAC_FIN=0.0157;ExAC_NFE=0.0159;ExAC_OTH=0.0173;ExAC_SAS=0.0430;CLNALLELEID=255260;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0280;gnomAD_exome_AFR=0.0138;gnomAD_exome_AMR=0.0534;gnomAD_exome_ASJ=0.0142;gnomAD_exome_EAS=0.0755;gnomAD_exome_FIN=0.0139;gnomAD_exome_NFE=0.0156;gnomAD_exome_OTH=0.0305;gnomAD_exome_SAS=0.0396;gnomAD_genome_ALL=0.0179;gnomAD_genome_AFR=0.0154;gnomAD_genome_AMR=0.0456;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0569;gnomAD_genome_FIN=0.0176;gnomAD_genome_NFE=0.0138;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-391.741,0,-733.255:744:384:298:6906:10834 . . . . . . . 0/1:-257.876,0,-414.907:451:216:202:4453:6263 . . . . . . . . . . . . . . . . . . . 0/1:-405.622,0,-586.568:690:320:299:6862:9033 . . . . . . . . . . . . . . . . . . . 0/1:-298.564,0,-577.372:615:303:248:5514:8659 . . 0/1:-465.47,0,-726.004:822:395:359:8073:10999 . . . 0/1:-293.596,0,-536.978:620:290:257:5388:8182 . . . . 0/1:-350.5,0,-497.398:614:275:282:6053:7781 . . . . . 0/1:-336.176,0,-593.647:666:322:289:6190:9089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48744908 . AAGGA AA 2152.04 . AB=0.424581;ABP=29.5411;AC=8;AF=0.5;AN=16;AO=228;CIGAR=1M3D1M;DP=3707;DPB=408;DPRA=0;EPP=131.165;EPPR=162.566;GTI=0;LEN=3;MEANALT=40;MQM=38.0044;MQMR=40.0913;NS=1;NUMALT=1;ODDS=639.419;PAIRED=0.986842;PAIREDR=1;PAO=0.5;PQA=16;PQR=212;PRO=7.5;QA=5325;QR=6760;RO=230;RPL=103;RPP=7.61992;RPPR=4.36983;RPR=125;RUN=1;SAF=47;SAP=174.023;SAR=181;SF=0;SRF=61;SRP=113.132;SRR=169;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-316.952,0,-459.26:537:230:228:5325:6760 . . . . . . . 0/1:-204.525,0,-161.567:266:86:131:3137:2539 . . . . . . . . . . . . . . . . . . . 0/1:-317.075,0,-530.099:576:260:223:5426:7632 . . . . . . . . . . . . . . . . . . . 0/1:-202.797,0,-404.005:409:187:158:3593:5650 . . 0/1:-239.362,0,-443.113:463:208:168:4113:6114 . . . 0/1:-278.171,0,-408.646:490:210:210:4719:6181 . . . . 0/1:-246.019,0,-428.742:474:208:190:4307:6040 . . . . . 0/1:-240.982,0,-449.192:492:216:179:4203:6386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48755450 . TAAAAAAAAG TAAAAAAAAAG 3719.06 . AB=0.393775;ABP=75.4387;AC=8;AF=0.5;AN=16;AO=291;CIGAR=1M1I9M;DP=5283;DPB=800.9;DPRA=0;EPP=4.2714;EPPR=31.2101;GTI=0;LEN=1;MEANALT=81;MQM=39.2474;MQMR=40.7365;NS=1;NUMALT=1;ODDS=1005.3;PAIRED=0.969072;PAIREDR=0.972973;PAO=18.5;PQA=451.5;PQR=451.5;PRO=18.5;QA=7331;QR=9108;RO=296;RPL=154;RPP=5.16685;RPPR=15.9511;RPR=137;RUN=1;SAF=125;SAP=15.5541;SAR=166;SF=0;SRF=134;SRP=8.76177;SRR=162;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0166;esp6500siv2_ea=0.0103;esp6500siv2_all=0.0166;esp6500siv2_ea=0.0103;1000g2015aug_all=0.0477236;avsnp147=rs34816032;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;ExAC_ALL=0.0262;ExAC_AFR=0.0318;ExAC_AMR=0.0581;ExAC_EAS=0.0818;ExAC_FIN=0.0129;ExAC_NFE=0.0103;ExAC_OTH=0.0165;ExAC_SAS=0.0414;CLNALLELEID=175984;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0259;gnomAD_exome_AFR=0.0301;gnomAD_exome_AMR=0.0526;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0.0765;gnomAD_exome_FIN=0.0108;gnomAD_exome_NFE=0.0100;gnomAD_exome_OTH=0.0259;gnomAD_exome_SAS=0.0397;gnomAD_genome_ALL=0.0201;gnomAD_genome_AFR=0.0323;gnomAD_genome_AMR=0.0492;gnomAD_genome_ASJ=0.0067;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.0150;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0196;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-445.676,0,-597.234:739:296:291:7331:9108 . . . . . . . 0/1:-280.707,0,-454.687:505:223:195:4919:6891 . . . . . . . . . . . . . . . . . . . 0/1:-438.823,0,-636.702:731:308:286:7310:9665 . . . . . . . . . . . . . . . . . . . 0/1:-338.161,0,-494.254:590:250:223:5787:7642 . . 0/1:-389.853,0,-591.581:681:295:265:6681:8970 . . . 0/1:-331.826,0,-564.892:625:276:227:5801:8496 . . . . 0/1:-413.767,0,-591.126:707:303:283:7126:9227 . . . . . 0/1:-416.286,0,-673.229:705:320:264:6989:10019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48760750 . T C 9289.23 . AB=0.472603;ABP=10.6253;AC=8;AF=0.5;AN=16;AO=552;CIGAR=1X;DP=8221;DPB=1168;DPRA=0;EPP=43.9378;EPPR=91.0852;GTI=0;LEN=1;MEANALT=3;MQM=39.0054;MQMR=39.36;NS=1;NUMALT=1;ODDS=2384.55;PAIRED=0.969203;PAIREDR=0.955;PAO=0;PQA=0;PQR=0;PRO=0;QA=16621;QR=18904;RO=600;RPL=391;RPP=211.11;RPPR=187.861;RPR=161;RUN=1;SAF=244;SAP=19.1233;SAR=308;SF=0;SRF=259;SRP=27.3453;SRR=341;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0119;esp6500siv2_ea=0.0101;esp6500siv2_all=0.0119;esp6500siv2_ea=0.0101;1000g2015aug_all=0.0405351;avsnp147=rs55840194;Kaviar_AF=0.0233826;Kaviar_AC=3615;Kaviar_AN=154602;ExAC_ALL=0.0247;ExAC_AFR=0.0136;ExAC_AMR=0.0581;ExAC_EAS=0.0828;ExAC_FIN=0.0129;ExAC_NFE=0.0103;ExAC_OTH=0.0167;ExAC_SAS=0.0417;CLNALLELEID=141011;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0627;dpsi_zscore=-0.319;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0246;gnomAD_exome_AFR=0.0126;gnomAD_exome_AMR=0.0520;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0.0765;gnomAD_exome_FIN=0.0106;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0253;gnomAD_exome_SAS=0.0397;gnomAD_genome_ALL=0.0145;gnomAD_genome_AFR=0.0138;gnomAD_genome_AMR=0.0453;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0576;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0085;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1071.2,0,-1253.17:1168:600:552:16621:18904 . . . . . . . 0/1:-667.922,0,-587.64:624:284:331:10040:9062 . . . . . . . . . . . . . . . . . . . 0/1:-1113.83,0,-1243.16:1185:587:575:17251:18754 . . . . . . . . . . . . . . . . . . . 0/1:-939.213,0,-1146.01:1069:554:491:14893:17337 . . 0/1:-1085.94,0,-972.268:1028:482:532:16404:15144 . . . 0/1:-914.501,0,-992.402:972:477:473:14248:15177 . . . . 0/1:-1185.7,0,-1128.07:1174:560:599:18307:17792 . . . . . 0/1:-777.145,0,-1133.22:1001:530:444:13021:16860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48762982 . A T 5205.26 . AB=0.483871;ABP=4.76149;AC=2;AF=0.5;AN=4;AO=375;CIGAR=1X;DP=1385;DPB=775;DPRA=0;EPP=296.159;EPPR=336.208;GTI=0;LEN=1;MEANALT=3;MQM=37.7387;MQMR=38.4485;NS=1;NUMALT=1;ODDS=1328.85;PAIRED=0.968;PAIREDR=0.971649;PAO=0;PQA=0;PQR=0;PRO=0;QA=10141;QR=11413;RO=388;RPL=146;RPP=42.9017;RPPR=33.6572;RPR=229;RUN=1;SAF=157;SAP=24.5571;SAR=218;SF=0;SRF=161;SRP=27.389;SRR=227;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0024;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0024;1000g2015aug_all=.;avsnp147=rs368194234;Kaviar_AF=0.0011902;Kaviar_AC=184;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0008;ExAC_AMR=0.0036;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0018;ExAC_OTH=0.0013;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1030;dpsi_zscore=0.493;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0020;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-622.32,0,-726.637:775:388:375:10141:11413 . . . . . . . . . . . . . 0/1:-511.94,0,-530.063:610:296:307:8243:8446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48779231 . GTAAAATAAAATAAAATAAAATAAAATAAAAAAGAAC GTAAAATAAAATAAAATAAAATAAAAAAGAAC,ATAAAGTAAAATAAAATAAAATAAAATAAAAAAGAAC 648.38 . AB=0.206239;ABP=435.502;AC=13,5;AF=0.5;AN=36;AO=119;CIGAR=1M5D26M;DP=10363;DPB=577.844;DPRA=0;EPP=8.28388;EPPR=27.0366;GTI=0;LEN=5;MEANALT=120;MQM=24.2353;MQMR=41.0922;NS=1;NUMALT=1;ODDS=78.7035;PAIRED=0.983193;PAIREDR=0.97235;PAO=10.5;PQA=276;PQR=527;PRO=21.5;QA=2052;QR=6504;RO=217;RPL=84;RPP=46.8229;RPPR=53.4545;RPR=35;RUN=1;SAF=71;SAP=12.6633;SAR=48;SF=0,1;SRF=125;SRP=13.9077;SRR=92;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.1728;esp6500siv2_ea=0.1656;esp6500siv2_all=0.1728;esp6500siv2_ea=0.1656;1000g2015aug_all=0.196685;avsnp147=rs148886975;Kaviar_AF=0.0082017;Kaviar_AC=1268;Kaviar_AN=154602;ExAC_ALL=0.1604;ExAC_AFR=0.2089;ExAC_AMR=0.2686;ExAC_EAS=0.3639;ExAC_FIN=0.3071;ExAC_NFE=0.1480;ExAC_OTH=0.1918;ExAC_SAS=0.1406;CLNALLELEID=255266;CLNDN=Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1745;gnomAD_exome_AFR=0.2397;gnomAD_exome_AMR=0.2051;gnomAD_exome_ASJ=0.0574;gnomAD_exome_EAS=0.3776;gnomAD_exome_FIN=0.2003;gnomAD_exome_NFE=0.1539;gnomAD_exome_OTH=0.1609;gnomAD_exome_SAS=0.1410;gnomAD_genome_ALL=0.1729;gnomAD_genome_AFR=0.1706;gnomAD_genome_AMR=0.1695;gnomAD_genome_ASJ=0.0667;gnomAD_genome_EAS=0.3258;gnomAD_genome_FIN=0.1955;gnomAD_genome_NFE=0.1538;gnomAD_genome_OTH=0.1975;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-477.425,.,.,.:577:217:119,.:2052,.:6504 . . . . . . . . . . . . . . . . . . . 0/1:.,.,-452.451,.,.,.:575:222:119,.:2104,.:6624 . . . . . . . . . . . . . 0/1:.,.,-494.149,.,.,.:647:237:143,.:2539,.:7015 . . . . . . . . . . 0/1:.,.,-458.229,.,.,.:580:227:123,.:2247,.:6615 . . . 0/1:.,.,-433.639,.,.,.:607:217:150,.:2632,.:6323 . . . . . . . . 0/1:.,.,-500.841,.,.,.:581:242:121,.:2210,.:7156 0/1:.,.,-404.235,.,.,.:479:196:99,.:1787,.:5802 . . . . . 0/1:.,.,-408.429,.,.,.:542:200:114,.:2059,.:5909 . 0/1:.,.,-707.98,.,.,.:832:333:180,.:3375,.:9946 . . . . . . . . 0/1:.,.,-516.733,.,.,.:653:252:142,.:2582,.:7435 . . . 0/1:.,.,-470.003,.,.,.:536:226:108,.:2009,.:6610 0/1:.,.,-425.504,.,.,.:551:206:126,.:2397,.:6121 . . . 0/1:.,.,-377.403,.,.,.:471:182:106,.:1956,.:5332 . . . . . . . . . . 0/2:-148.579,.,.,0,.,-342.159:412:156:.,93:.,2549:4871:156,93 . . . . 0/2:-222.702,.,.,0,.,-621.858:685:276:.,146:.,3822:8714:276,146 0/2:-169.724,.,.,0,.,-357.637:455:158:.,95:.,2668:5033:158,95 . . . . . . . . 0/2:-174.991,.,.,0,.,-543.925:568:239:.,114:.,3079:7583:239,114 0/2:-223.661,.,.,0,.,-522.632:612:230:.,125:.,3503:7257:230,125 . . . chr15 48779402 . C T 11288.01 . AB=0.439381;ABP=40.1307;AC=29;AF=0.5;AN=58;AO=511;CIGAR=1X;DP=37468;DPB=1163;DPRA=0;EPP=19.8764;EPPR=10.3037;GTI=0;LEN=1;MEANALT=3;MQM=37.272;MQMR=39.5365;NS=1;NUMALT=1;ODDS=1951.8;PAIRED=0.964775;PAIREDR=0.963492;PAO=0;PQA=0;PQR=0;PRO=0;QA=15141;QR=19207;RO=630;RPL=114;RPP=343.345;RPPR=406.16;RPR=397;RUN=1;SAF=335;SAP=110.441;SAR=176;SF=0,1;SRF=422;SRP=160.859;SRR=208;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.1487;esp6500siv2_ea=0.1390;esp6500siv2_all=0.1487;esp6500siv2_ea=0.1390;1000g2015aug_all=0.196486;avsnp147=rs11853943;Kaviar_AF=0.166641;Kaviar_AC=25763;Kaviar_AN=154602;ExAC_ALL=0.1709;ExAC_AFR=0.1685;ExAC_AMR=0.1947;ExAC_EAS=0.3522;ExAC_FIN=0.2033;ExAC_NFE=0.1481;ExAC_OTH=0.1623;ExAC_SAS=0.1403;CLNALLELEID=141008;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7962;dpsi_zscore=1.384;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS145757#"Marfan_syndrome_features";gnomAD_exome_ALL=0.1687;gnomAD_exome_AFR=0.1707;gnomAD_exome_AMR=0.1888;gnomAD_exome_ASJ=0.0574;gnomAD_exome_EAS=0.3444;gnomAD_exome_FIN=0.2082;gnomAD_exome_NFE=0.1466;gnomAD_exome_OTH=0.1586;gnomAD_exome_SAS=0.1365;gnomAD_genome_ALL=0.1764;gnomAD_genome_AFR=0.1712;gnomAD_genome_AMR=0.1718;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.3315;gnomAD_genome_FIN=0.2095;gnomAD_genome_NFE=0.1557;gnomAD_genome_OTH=0.2045;Whole_Blood=Whole_Blood::0.149864::-0.386197;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-906.178,0,-1285.19:1163:630:511:15141:19207 . . . . . . . . . . . . . . . 0/1:-881.705,0,-1013.27:1039:523:495:14570:15900 . . 0/1:-748.064,0,-1028.49:973:515:422:12404:15574 0/1:-913.843,0,-819.586:938:429:478:14159:12886 0/1:-1353.73,0,-1458.13:1485:729:711:21131:22401 . . . . . . . 0/1:-878.739,0,-960.536:959:466:464:13795:14616 . . . . 0/1:-1319.74,0,-1385.9:1433:706:702:20697:21586 . . . . 0/1:-431.785,0,-760.652:646:375:259:7527:11567 . . . . . 0/1:-1194.61,0,-1282.45:1319:676:621:18710:20016 0/1:-1285.95,0,-1225.02:1348:635:682:20123:19373 . . 0/1:-1476.65,0,-1389.02:1500:702:758:22574:21309 . . . . . . . . 0/1:-870.354,0,-815.366:915:422:465:13749:12852 0/1:-1234.23,0,-1174.54:1264:597:646:19111:18394 . 0/1:-1406.19,0,-1670.74:1682:874:769:22657:25991 . . . 0/1:-1184.97,0,-1573.88:1459:773:640:19031:23618 . 0/1:-1198.12,0,-1195.59:1286:612:645:18842:18562 . 0/1:-1179.98,0,-1139.99:1267:597:640:18458:18160 . . 0/1:-1297.5,0,-1386.8:1426:716:675:20287:21500 . . . 0/1:-1316.78,0,-1331.66:1421:686:703:20754:20858 . 0/1:-792.373,0,-673.152:815:377:418:12138:10920 . 0/1:-1467.07,0,-1345.09:1511:704:772:22624:21380 0/1:-1144.66,0,-1507.83:1423:758:633:18567:22783 . . . 0/1:-1056.18,0,-1170.17:1136:576:543:16514:17752 . 0/1:-1353.55,0,-1270.92:1413:661:713:21163:20087 . . . . . . . . 0/1:-1667.89,0,-1632.27:1588:770:791:24873:24248:770,791 . . . . 0/1:-1709,0,-1777.9:1673:837:815:25547:26324:837,815 0/1:-1312.85,0,-1432.6:1315:665:629:19664:21039:665,629 . . . . . . . . 0/1:-1349.32,0,-1607.66:1445:755:673:20741:23569:755,673 0/1:-1706.02,0,-1702.8:1626:795:813:25465:25322:795,813 . . . chr15 48780290 . T C 4190.07 . AB=0.431856;ABP=27.574;AC=1;AF=0.5;AN=2;AO=263;CIGAR=1X;DP=609;DPB=609;DPRA=0;EPP=19.7298;EPPR=13.7336;GTI=0;LEN=1;MEANALT=3;MQM=37.5703;MQMR=39.1019;NS=1;NUMALT=1;ODDS=964.799;PAIRED=0.980989;PAIREDR=0.95679;PAO=0;PQA=0;PQR=0;PRO=0;QA=7383;QR=10103;RO=324;RPL=65;RPP=149.06;RPPR=119.787;RPR=198;RUN=1;SAF=130;SAP=3.08461;SAR=133;SF=0;SRF=192;SRP=27.1378;SRR=132;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs757193641;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.648e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=6.058e-05;CLNALLELEID=433142;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0488;dpsi_zscore=0.293;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.624e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-444.409,0,-669.828:609:324:263:7383:10103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48780353 . G A 8170.13 . AB=0.55643;ABP=24.0867;AC=1;AF=0.5;AN=2;AO=424;CIGAR=1X;DP=762;DPB=762;DPRA=0;EPP=3.33807;EPPR=3.25157;GTI=0;LEN=1;MEANALT=3;MQM=38.0967;MQMR=38.3735;NS=1;NUMALT=1;ODDS=1264.03;PAIRED=0.945755;PAIREDR=0.966049;PAO=0;PQA=0;PQR=0;PRO=0;QA=12596;QR=9475;RO=324;RPL=270;RPP=71.9238;RPPR=70.0311;RPR=154;RUN=1;SAF=208;SAP=3.33807;SAR=216;SF=0;SRF=171;SRP=5.18177;SRR=153;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon27:c.C3294T:p.D1098D;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0079;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0079;1000g2015aug_all=0.00219649;avsnp147=rs140587;Kaviar_AF=0.0076131;Kaviar_AC=1177;Kaviar_AN=154602;ExAC_ALL=0.0080;ExAC_AFR=0.0013;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0408;ExAC_NFE=0.0098;ExAC_OTH=0.0066;ExAC_SAS=0.0002;CLNALLELEID=51500;CLNDN=Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3996;dpsi_zscore=-0.983;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS077355#"Marfan_syndrome";gnomAD_exome_ALL=0.0080;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0375;gnomAD_exome_NFE=0.0089;gnomAD_exome_OTH=0.0117;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0105;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0386;gnomAD_genome_NFE=0.0111;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-834.72,0,-566.497:762:324:424:12596:9475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48782118 . G A 9068.08 . AB=0.472321;ABP=10.4631;AC=1;AF=0.5;AN=2;AO=529;CIGAR=1X;DP=1120;DPB=1120;DPRA=0;EPP=11.3226;EPPR=7.00956;GTI=0;LEN=1;MEANALT=3;MQM=37.4461;MQMR=38.2734;NS=1;NUMALT=1;ODDS=2088;PAIRED=0.905482;PAIREDR=0.919065;PAO=0;PQA=0;PQR=0;PRO=0;QA=14939;QR=16656;RO=556;RPL=251;RPP=6.00274;RPPR=5.65044;RPR=278;RUN=1;SAF=253;SAP=5.18177;SAR=276;SF=0;SRF=273;SRP=3.40085;SRR=283;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon25:c.C3012T:p.Y1004Y;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1043;dpsi_zscore=0.496;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-916.296,0,-1064.17:1120:556:529:14939:16656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48782204 . G A 12956.60 . AB=0.504092;ABP=3.188;AC=1;AF=0.5;AN=2;AO=616;CIGAR=1X;DP=1222;DPB=1222;DPRA=0;EPP=34.1582;EPPR=7.54191;GTI=0;LEN=1;MEANALT=3;MQM=39.9935;MQMR=40.7325;NS=1;NUMALT=1;ODDS=2959.34;PAIRED=0.964286;PAIREDR=0.959114;PAO=0;PQA=0;PQR=0;PRO=0;QA=19493;QR=19179;RO=587;RPL=294;RPP=5.77399;RPPR=6.5653;RPR=322;RUN=1;SAF=279;SAP=14.8688;SAR=337;SF=1;SRF=263;SRP=16.7753;SRR=324;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon25:c.C2926T:p.R976C;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs548296552;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.244e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=197745;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.275;MutationAssessor_pred=M;FATHMM_score=-3.13;FATHMM_pred=D;PROVEAN_score=-5.62;PROVEAN_pred=D;VEST3_score=0.93;CADD_raw=7.876;CADD_phred=35;DANN_score=0.999;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_pred=D;MetaSVM_score=0.733;MetaSVM_pred=D;MetaLR_score=0.849;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.205;GDI_full_10282015=.;dpsi_max_tissue=-0.9365;dpsi_zscore=-1.434;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.218e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.79e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1308.51,0,-1295.65:1222:587:616:19493:19179:587,616 . . . . . . . . . . . . chr15 48782235 . C T 7157.77 . AB=0.442171;ABP=35.6597;AC=1;AF=0.5;AN=2;AO=497;CIGAR=1X;DP=1124;DPB=1124;DPRA=0;EPP=54.9203;EPPR=27.3065;GTI=0;LEN=1;MEANALT=3;MQM=36.1851;MQMR=38.0769;NS=1;NUMALT=1;ODDS=1648.14;PAIRED=0.909457;PAIREDR=0.937063;PAO=0;PQA=0;PQR=0;PRO=0;QA=12797;QR=16532;RO=572;RPL=262;RPP=6.19542;RPPR=26.1069;RPR=235;RUN=1;SAF=224;SAP=13.5007;SAR=273;SF=0;SRF=273;SRP=5.57659;SRR=299;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon25:c.G2895A:p.E965E;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0009;1000g2015aug_all=.;avsnp147=rs140591;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=51490;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2974;dpsi_zscore=0.887;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.933e-05;gnomAD_exome_ASJ=0.0040;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-731.461,0,-1061.98:1124:572:497:12797:16532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48797307 . A G 6177.41 . AB=0.443972;ABP=22.2332;AC=29;AF=0.5;AN=58;AO=313;CIGAR=1X;DP=22491;DPB=705;DPRA=0;EPP=14.6724;EPPR=21.1213;GTI=0;LEN=1;MEANALT=3;MQM=36.7252;MQMR=38.3324;NS=1;NUMALT=1;ODDS=1168.65;PAIRED=0.900958;PAIREDR=0.928191;PAO=0;PQA=0;PQR=0;PRO=0;QA=8824;QR=11567;RO=376;RPL=158;RPP=3.07274;RPPR=5.32038;RPR=155;RUN=1;SAF=199;SAP=53.1345;SAR=114;SF=0,1;SRF=214;SRP=18.6264;SRR=162;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon16:c.T1875C:p.N625N;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.2444;esp6500siv2_ea=0.1420;esp6500siv2_all=0.2444;esp6500siv2_ea=0.1420;1000g2015aug_all=0.296925;avsnp147=rs25458;Kaviar_AF=0.195398;Kaviar_AC=30209;Kaviar_AN=154602;ExAC_ALL=0.2006;ExAC_AFR=0.4573;ExAC_AMR=0.2071;ExAC_EAS=0.3527;ExAC_FIN=0.2031;ExAC_NFE=0.1511;ExAC_OTH=0.1751;ExAC_SAS=0.1552;CLNALLELEID=51467;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0743;dpsi_zscore=0.398;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM070116#"Tall_stature_association_with";gnomAD_exome_ALL=0.1919;gnomAD_exome_AFR=0.4606;gnomAD_exome_AMR=0.2000;gnomAD_exome_ASJ=0.0580;gnomAD_exome_EAS=0.3438;gnomAD_exome_FIN=0.2081;gnomAD_exome_NFE=0.1500;gnomAD_exome_OTH=0.1712;gnomAD_exome_SAS=0.1508;gnomAD_genome_ALL=0.2590;gnomAD_genome_AFR=0.4571;gnomAD_genome_AMR=0.1787;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.3323;gnomAD_genome_FIN=0.2102;gnomAD_genome_NFE=0.1585;gnomAD_genome_OTH=0.2204;Whole_Blood=Whole_Blood::0.185286::-0.336374;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-521.878,0,-757.2:705:376:313:8824:11567 . . . . . . . . . . . . . . . 0/1:-466.381,0,-651.762:642:336:281:8147:10139 . . 0/1:-427.693,0,-526.123:526:274:243:7118:8574 0/1:-496.182,0,-714.033:649:351:281:8313:10952 0/1:-919.774,0,-946.129:981:477:481:14387:14853 . . . . . . . 0/1:-459.32,0,-595.065:580:299:269:7691:9324 . . . . 0/1:-673.814,0,-854.845:791:408:361:10749:12807 . . . . 0/1:-366.249,0,-487.036:461:241:206:5987:7554 . . . . . 0/1:-673.917,0,-873.316:834:437:382:11018:13578 0/1:-703.189,0,-692.414:733:343:374:11159:10860 . . 0/1:-628.174,0,-985.651:890:488:379:10941:15004 . . . . . . . . 0/1:-435.013,0,-554.176:563:293:255:7359:8883 0/1:-462.205,0,-751.721:660:367:274:7896:11348 . 0/1:-712.259,0,-972.863:913:484:407:11757:14900 . . . 0/1:-666.555,0,-1010.99:880:487:377:10995:15054 . 0/1:-553.509,0,-782.872:718:391:311:9291:11964 . 0/1:-729.373,0,-829.284:813:407:381:11477:12670 . . 0/1:-686.305,0,-931.32:885:470:392:11443:14413 . . . 0/1:-704.696,0,-737.185:781:375:384:11158:11732 . 0/1:-456.597,0,-589.93:566:300:251:7461:9003 . 0/1:-560.308,0,-879.584:790:434:343:9742:13296 0/1:-595.508,0,-991.601:857:482:354:10344:14879 . . . 0/1:-542.457,0,-709.55:670:358:294:8782:10877 . 0/1:-711.033,0,-1009.7:906:499:394:11802:15158 . . . . . . . . 0/1:-836.059,0,-964.558:870:442:412:12776:14232:442,412 . . . . 0/1:-877.015,0,-1352.14:1049:599:437:13723:19218:599,437 0/1:-773.15,0,-954.586:841:446:378:11784:13909:446,378 . . . . . . . . 0/1:-749.365,0,-958.785:843:450:380:11691:14055:450,380 0/1:-937.735,0,-1351.78:1094:607:471:14744:19626:607,471 . . . chr15 48807637 . C T 29138.33 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=1086;CIGAR=1X;DP=137671;DPB=1093;DPRA=0;EPP=231.443;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=37.5875;MQMR=42;NS=1;NUMALT=1;ODDS=1502.09;PAIRED=0.941068;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=33592;QR=14;RO=1;RPL=343;RPP=322.933;RPPR=5.18177;RPR=743;RUN=1;SAF=729;SAP=279.711;SAR=357;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon12:c.G1415A:p.C472Y;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs4775765;Kaviar_AF=0.938235;Kaviar_AC=145053;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=230590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.0758;dpsi_zscore=1.990;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2775.3,-325.96,0:1093:1:1086:33592:14 1/1:-3697.79,-441.41,0:1488:1:1472:44730:27 1/1:-3042.35,-355.215,0:1193:0:1180:36139:0 1/1:-1919.58,-228.761,0:774:1:763:23087:14 1/1:-3249.95,-386.523,0:1302:0:1284:39465:0 1/1:-3914.09,-467.25,0:1575:1:1552:47115:14 1/1:-2591.84,-309.158,0:1040:0:1027:31213:0 1/1:-3549.85,-415.421,0:1395:0:1380:42342:0 1/1:-2609.66,-308.818,0:1049:4:1031:31388:56 1/1:-3424.94,-413.916,0:1395:0:1375:41744:0 1/1:-2948.11,-352.251,0:1206:4:1186:35757:74 1/1:-2914.89,-345.883,0:1164:0:1149:35074:0 1/1:-3173.49,-377.451,0:1280:1:1255:38119:14 1/1:-2508.51,-305.952,0:1053:2:1027:30751:53 1/1:-2361.95,-277.951,0:955:2:935:28447:59 1/1:-4247.64,-501.719,0:1686:1:1668:51213:21 1/1:-2256.58,-275.101,0:938:1:915:27786:14 1/1:-6498.69,-753.565,0:2570:4:2529:78181:109 1/1:-3018.63,-356.118,0:1204:0:1183:36403:0 1/1:-2226.89,-256.163,0:894:3:876:26747:95 1/1:-2199.28,-264.583,0:905:2:888:26681:46 1/1:-3791.61,-439.979,0:1520:5:1501:46070:176 1/1:-1594.64,-198.666,0:670:1:663:19940:14 1/1:-3725.98,-441.573,0:1480:1:1468:45140:14 1/1:-3496.43,-416.626,0:1412:1:1390:42258:32 1/1:-2333,-277.716,0:952:5:939:28577:88 1/1:-3420.9,-396.457,0:1329:0:1317:40842:0 1/1:-3708.91,-438.323,0:1481:2:1465:44818:46 1/1:-2392.06,-292.846,0:985:1:976:29375:14 1/1:-2186.43,-254.494,0:867:2:857:26357:46 1/1:-2983.32,-349.421,0:1185:2:1167:35731:28 1/1:-3766.44,-445.825,0:1515:0:1481:45163:0 1/1:-3298.32,-396.143,0:1333:1:1319:39825:14 1/1:-1528.79,-182.254,0:632:3:618:18632:77 1/1:-3308.29,-375.796,0:1284:5:1263:39465:96 1/1:-3888.4,-460.576,0:1548:0:1530:46621:0 1/1:-1755.68,-209.126,0:713:2:699:21122:28 1/1:-3397.98,-396.623,0:1344:2:1330:41110:50 1/1:-2722.06,-326.919,0:1105:0:1086:32997:0 1/1:-1631.6,-192.96,0:644:0:641:19756:0 1/1:-3989.24,-466.526,0:1581:2:1560:47885:41 1/1:-2883.6,-338.659,0:1141:0:1125:34816:0 1/1:-2973.63,-350.399,0:1178:0:1164:36094:0 1/1:-3005.98,-360.333,0:1207:0:1197:36340:0 1/1:-3962.41,-468.781,0:1594:4:1570:47311:56 1/1:-3367.21,-398.865,0:1343:0:1325:40692:0 1/1:-3377.11,-402.778,0:1353:0:1338:40561:0 1/1:-1772.74,-201.761,0:681:1:676:21196:32 1/1:-2691.11,-320.654,0:1074:1:1065:32601:14 1/1:-3650.14,-429.493,0:1454:2:1433:43648:28 1/1:-3300.46,-390.737,0:1311:0:1298:40005:0 1/1:-2721.99,-335.648,0:1137:0:1115:33745:0 1/1:-4050,-482.135,0:1626:1:1603:48730:32 1/1:-3508.25,-408.509,0:1394:3:1367:42019:62 1/1:-2331.71,-287.617,0:972:2:960:28660:46 1/1:-2550.63,-298.381,0:999:1:991:30671:14 1/1:-3418.63,-399.563,0:1355:3:1339:40907:55 1/1:-1822.79,-224.814,0:765:1:750:22319:14 1/1:-2269.4,-269.723,0:905:0:896:27331:0 1/1:-3030.68,-365.839,0:1240:2:1224:36536:41 1/1:-1951.73,-240.665,0:820:1:809:23912:36 1/1:-3967.85,-463.478,0:1576:3:1547:47650:42 1/1:-2730.44,-326.974,0:1097:1:1086:33018:14 1/1:-2007.94,-247.985,0:850:2:835:24896:59 1/1:-4175.58,-488.271,0:1645:0:1622:50414:0 1/1:-3106.03,-367.257,0:1239:0:1220:37603:0 1/1:-1516.98,-184.4,0:636:3:622:18609:42 1/1:-3306.37,-389.424,0:1319:2:1300:39849:28 1/1:-2407.66,-283.57,0:946:0:942:28914:0 1/1:-3169.94,-377.64,0:1284:1:1264:38352:36 1/1:-3295.97,-388.028,0:1310:0:1289:38948:0 1/1:-4299.35,-508.44,0:1713:0:1689:51433:0 1/1:-3905.2,-460.823,0:1555:1:1534:46590:14 1/1:-1788.08,-241.125,0:823:0:801:22645:0 1/1:-2749.13,-320.297,0:1099:2:1082:33167:68 1/1:-3651.94,-428.663,0:1446:2:1427:43768:28 1/1:-3583.38,-413.26,0:1401:2:1386:42988:53 1/1:-3507.34,-415.927,0:1407:2:1386:42428:28 1/1:-2119.4,-251.059,0:847:0:834:25642:0 1/1:-2044.45,-243.216,0:819:1:811:24690:14 1/1:-3374.71,-401.609,0:1362:1:1334:40741:36 1/1:-3538.83,-422.29,0:1421:1:1406:42620:14 1/1:-3554.39,-428.417,0:1443:1:1423:43249:14 1/1:-2945.38,-348.87,0:1183:2:1165:35876:28 1/1:-2597.58,-311.255,0:1046:1:1037:31469:14 1/1:-2730.55,-329.765,0:1129:2:1108:33352:50 1/1:-2498.39,-292.208,0:984:2:975:29742:28 1/1:-3189.05,-386.167,0:1310:1:1286:38602:14 1/1:-1930.21,-225.903,0:775:3:761:23001:78 1/1:-3149.37,-371.695,0:1255:2:1241:38017:28 1/1:-4158.78,-494.273,0:1664:1:1645:50376:14 1/1:-2968.2,-352.15,0:1185:1:1173:36147:14 1/1:-3365.42,-400.519,0:1362:1:1340:40614:36 1/1:-3328.25,-400.632,0:1350:1:1332:40649:14 1/1:-3515.54,-415.408,0:1420:3:1395:42851:74 . 1/1:-3209.25,-363.644,0:1216:0:1208:37165:0:0,1208 1/1:-3329.36,-373.879,0:1254:0:1242:38539:0:0,1242 1/1:-3506.35,-389.834,0:1310:0:1295:40652:0:0,1295 1/1:-1799.85,-203.195,0:679:0:675:20887:0:0,675 1/1:-2621.67,-295.912,0:993:0:983:30414:0:0,983 1/1:-3360.17,-377.492,0:1261:0:1254:38950:0:0,1254 1/1:-3107.6,-348.52,0:1173:2:1164:35964:28:2,1164 1/1:-3065.2,-344.98,0:1154:0:1146:35464:0:0,1146 1/1:-2973.68,-336.251,0:1127:0:1117:34728:0:0,1117 1/1:-3041.92,-336.711,0:1141:2:1127:35386:35:2,1127 1/1:-3340.06,-377.134,0:1268:1:1256:39045:14:1,1256 1/1:-2435.61,-273.905,0:928:2:916:28323:28:2,916 1/1:-2646.59,-303.739,0:1020:0:1009:30696:0:0,1009 1/1:-3106.55,-347.311,0:1170:2:1156:35916:28:2,1156 1/1:-3124.79,-356.613,0:1203:2:1191:36391:28:2,1191 1/1:-2859.18,-319.065,0:1088:2:1079:33502:72:2,1079 1/1:-3202.06,-361.236,0:1209:0:1200:37222:0:0,1200 1/1:-2984.67,-332.589,0:1113:1:1108:34689:14:1,1108 1/1:-2729.98,-307.051,0:1026:0:1020:31589:0:0,1020 1/1:-3063.75,-343.475,0:1149:0:1141:35541:0:0,1141 chr15 48826425 . GAGAAAAAAAAAAAACTCAT GAGAAAAAAAAAAACTCAT,TATAAAAAAAAAAAACTCAT,GATAAAAAAAAAAAACTCAT,GAGAAAAAAAAAAAACTAAT,TAGAAAAAAAAAAAACTCAT 190.09 . 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0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-750.538:487:395:.,.,.,.,76:.,.,.,.,1321:10628:395,76 0/0:0,.,.,-9.42819,.,-216.209,-0.47133,.,-194.906,-205.043,.,.,.,.,.,.,.,.,.,.,.:402:89:.,24,34,.,.:.,397,548,.,.:2692:89,24,34 0/2:-0.791648,.,.,0,.,-174.683,-3.88319,.,-161.981,-180.23,.,.,.,.,.,.,.,.,.,.,.:405:79:.,32,30,.,.:.,523,486,.,.:2385:79,32,30 0/0:0,.,.,-6.33908,.,-165.015,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:308:56:.,17,.,.,.:.,257,.,.,.:1726:56,17 chr15 48826426 . AGAAAAAAAAAAAACTCAT AGAAAAAAAAAAACTCAT,ATAAAAAAAAAAAACTCAT,AGAAAAAAAAAAAACTAAT 1254.70 . AB=0;ABP=0;AC=4,1,0;AF=1;AN=8;AO=144;CIGAR=2M1D16M;DP=1704;DPB=356.053;DPRA=0;EPP=4.51827;EPPR=3.17734;GTI=0;LEN=1;MEANALT=88;MQM=38.4167;MQMR=40.6154;NS=1;NUMALT=1;ODDS=83.9846;PAIRED=0.868056;PAIREDR=1;PAO=8.16667;PQA=210.167;PQR=210.167;PRO=8.16667;QA=3338;QR=396;RO=13;RPL=67;RPP=4.51827;RPPR=3.17734;RPR=77;RUN=1;SAF=96;SAP=37.7539;SAR=48;SF=1;SRF=11;SRP=16.5402;SRR=2;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.1679;esp6500siv2_ea=0.1883;esp6500siv2_all=0.1679;esp6500siv2_ea=0.1883;1000g2015aug_all=.;avsnp147=rs373084568;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;ExAC_ALL=0.1731;ExAC_AFR=0.0815;ExAC_AMR=0.1537;ExAC_EAS=0.1871;ExAC_FIN=0.2479;ExAC_NFE=0.1862;ExAC_OTH=0.1782;ExAC_SAS=0.1470;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2451;gnomAD_exome_AFR=0.1177;gnomAD_exome_AMR=0.2227;gnomAD_exome_ASJ=0.1330;gnomAD_exome_EAS=0.2040;gnomAD_exome_FIN=0.3209;gnomAD_exome_NFE=0.2684;gnomAD_exome_OTH=0.2506;gnomAD_exome_SAS=0.2255;gnomAD_genome_ALL=0.1542;gnomAD_genome_AFR=0.0601;gnomAD_genome_AMR=0.1458;gnomAD_genome_ASJ=0.0917;gnomAD_genome_EAS=0.1024;gnomAD_genome_FIN=0.3844;gnomAD_genome_NFE=0.1817;gnomAD_genome_OTH=0.2298;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.5821;dpsi_zscore=2.798;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1899;dpsi_zscore=-0.667;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-258.497,-28.1136,0,.,.,.,.,.,.,.:368:13:144,.,.:3338,.,.:396:13,144 . . . . 0/1:-145.828,0,-69.9672,.,.,.,.,.,.,.:502:54:115,.,.:2424,.,.:1653:54,115 . . . . . . 0/2:-10.8734,.,.,0,.,-159.34,-28.6968,.,-163.43,-195.672:358:90:.,42,19:.,728,313:2737:90,19,42 . . . 0/1:-124.671,0,-105.619,.,.,.,.,.,.,.:476:63:93,.,.:2082,.,.:1937:63,93 . . . chr15 48826427 . GAAAAAAAAAAAAC GAAAAAAAAAAAC,TAAAAAAAAAAAAC 1006.44 . AB=0.27154;ABP=176.643;AC=24,1;AF=0.5;AN=50;AO=104;CIGAR=1M1D12M;DP=9303;DPB=402.786;DPRA=0;EPP=6.01695;EPPR=4.08507;GTI=0;LEN=1;MEANALT=60;MQM=35.4231;MQMR=34.6263;NS=1;NUMALT=1;ODDS=217.487;PAIRED=0.894231;PAIREDR=0.929293;PAO=22.5;PQA=541;PQR=596;PRO=24.5;QA=2184;QR=3058;RO=99;RPL=56;RPP=4.34659;RPPR=3.03223;RPR=48;RUN=1;SAF=60;SAP=8.35546;SAR=44;SF=0;SRF=80;SRP=84.627;SRR=19;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.1679;esp6500siv2_ea=0.1883;esp6500siv2_all=0.1679;esp6500siv2_ea=0.1883;1000g2015aug_all=.;avsnp147=rs373084568;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;ExAC_ALL=0.1731;ExAC_AFR=0.0815;ExAC_AMR=0.1537;ExAC_EAS=0.1871;ExAC_FIN=0.2479;ExAC_NFE=0.1862;ExAC_OTH=0.1782;ExAC_SAS=0.1470;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2451;gnomAD_exome_AFR=0.1177;gnomAD_exome_AMR=0.2227;gnomAD_exome_ASJ=0.1330;gnomAD_exome_EAS=0.2040;gnomAD_exome_FIN=0.3209;gnomAD_exome_NFE=0.2684;gnomAD_exome_OTH=0.2506;gnomAD_exome_SAS=0.2255;gnomAD_genome_ALL=0.1542;gnomAD_genome_AFR=0.0601;gnomAD_genome_AMR=0.1458;gnomAD_genome_ASJ=0.0917;gnomAD_genome_EAS=0.1024;gnomAD_genome_FIN=0.3844;gnomAD_genome_NFE=0.1817;gnomAD_genome_OTH=0.2298;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.5821;dpsi_zscore=2.798;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR 0/1:-101.319,0,-155.065,.,.,.:383:99:104,.:2184,.:3058 . . . . . . . . . . . . . . . 0/1:-152.282,0,-116.056,.,.,.:382:84:124,.:2772,.:2608 . . 0/1:-117.426,0,-106.724,.,.,.:316:74:100,.:2172,.:2307 0/1:-55.289,0,-62.4329,.,.,.:279:50:71,.:1430,.:1562 0/1:-140.588,0,-200.404,.,.,.:478:119:131,.:2922,.:3747 . . . . . . . 0/1:-103.975,0,-112.502,.,.,.:266:66:80,.:1904,.:2061 . . . . 0/1:-139.662,0,-165.91,.,.,.:440:110:125,.:2872,.:3391 . . . . 0/1:-52.7387,0,-89.8205,.,.,.:219:56:55,.:1186,.:1728 . . . . . 0/1:-108.161,0,-160.074,.,.,.:432:106:117,.:2359,.:3295 0/1:-67.0286,0,-145.983,.,.,.:386:95:95,.:1937,.:2984 0/2:.,.,.,.,.,-218.849:223:131:.,76:.,1185:3677 . 0/1:-140.222,0,-209.001,.,.,.:475:128:123,.:2845,.:3942 . . . . . . . . 0/1:-71.5325,0,-119.132,.,.,.:284:77:71,.:1590,.:2388 0/1:-143.09,0,-116.635,.,.,.:348:77:113,.:2502,.:2352 . 0/1:-184.303,0,-156.772,.,.,.:473:111:161,.:3529,.:3504 . . . 0/1:-105.105,0,-143.548,.,.,.:365:88:97,.:2126,.:2744 . 0/1:-169.565,0,-103.355,.,.,.:409:80:133,.:3065,.:2449 . 0/1:-127.049,0,-98.46,.,.,.:353:74:105,.:2367,.:2272 . . 0/1:-136.745,0,-149.503,.,.,.:476:109:134,.:2925,.:3398 . . . 0/1:-115.891,0,-187.071,.,.,.:429:118:111,.:2522,.:3631 . 0/1:-78.7274,0,-80.2261,.,.,.:285:59:88,.:1725,.:1842 . 0/1:-108.039,0,-178.387,.,.,.:397:108:113,.:2350,.:3330 0/1:-144.606,0,-193.388,.,.,.:461:119:136,.:2960,.:3718 . . . 0/1:-111.841,0,-119.075,.,.,.:340:78:93,.:2285,.:2426 . 0/1:-112.51,0,-145.227,.,.,.:404:99:120,.:2604,.:3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 48888610 . T C 6526.69 . AB=0.413866;ABP=64.359;AC=9;AF=0.5;AN=18;AO=394;CIGAR=1X;DP=7942;DPB=952;DPRA=0;EPP=99.0401;EPPR=100.524;GTI=0;LEN=1;MEANALT=3;MQM=38.3376;MQMR=38.7458;NS=1;NUMALT=1;ODDS=1338.89;PAIRED=0.977157;PAIREDR=0.975701;PAO=0;PQA=0;PQR=0;PRO=0;QA=10495;QR=15742;RO=535;RPL=189;RPP=4.42121;RPPR=36.6214;RPR=205;RUN=1;SAF=152;SAP=47.6522;SAR=242;SF=0,1;SRF=156;SRP=204.852;SRR=379;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0207;esp6500siv2_ea=0.0235;esp6500siv2_all=0.0207;esp6500siv2_ea=0.0235;1000g2015aug_all=0.0151757;avsnp147=rs116842662;Kaviar_AF=0.0164746;Kaviar_AC=2547;Kaviar_AN=154602;ExAC_ALL=0.0164;ExAC_AFR=0.0156;ExAC_AMR=0.0061;ExAC_EAS=0;ExAC_FIN=0.0108;ExAC_NFE=0.0220;ExAC_OTH=0.0177;ExAC_SAS=0.0118;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9865;dpsi_zscore=-1.463;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0159;gnomAD_exome_AFR=0.0167;gnomAD_exome_AMR=0.0077;gnomAD_exome_ASJ=0.0173;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0092;gnomAD_exome_NFE=0.0229;gnomAD_exome_OTH=0.0149;gnomAD_exome_SAS=0.0125;gnomAD_genome_ALL=0.0167;gnomAD_genome_AFR=0.0171;gnomAD_genome_AMR=0.0144;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0194;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-608.3,0,-1048.21:952:535:394:10495:15742 . . . 0/1:-591.806,0,-859.009:819:444:350:9609:13066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-894.258,0,-1364:1271:688:544:14879:20528 . . . . . 0/1:-659.641,0,-1074.24:975:541:399:10953:15883 . . . 0/1:-627.59,0,-938.732:862:463:379:10244:13982 . . . . . . . . . . 0/1:-669.08,0,-919.466:901:466:406:11032:13932 . . . . . . . . . . . . . . . . . 0/1:-767.393,0,-678.712:724:337:373:11301:10383:337,373 0/1:-613.916,0,-819.084:715:385:309:9439:11868:385,309 . . . . 0/1:-731.287,0,-744.772:723:356:355:10845:11029:356,355 . . . . . . chr15 48936908 . T C 4282.07 . AB=0.49848;ABP=3.0235;AC=1;AF=0.5;AN=2;AO=328;CIGAR=1X;DP=658;DPB=658;DPRA=0;EPP=54.2782;EPPR=3.60252;GTI=0;LEN=1;MEANALT=3;MQM=31.1463;MQMR=33.8148;NS=1;NUMALT=1;ODDS=930.736;PAIRED=0.896341;PAIREDR=0.878788;PAO=0;PQA=0;PQR=0;PRO=0;QA=8300;QR=8059;RO=297;RPL=169;RPP=3.67233;RPPR=120.935;RPR=159;RUN=1;SAF=103;SAP=101.547;SAR=225;SF=0;SRF=91;SRP=99.703;SRR=206;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon2:c.A59G:p.Y20C;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000199681;avsnp147=rs201309310;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=171182;CLNDN=Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided;CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.965;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-0.02;FATHMM_pred=T;PROVEAN_score=-0.67;PROVEAN_pred=N;VEST3_score=0.755;CADD_raw=2.153;CADD_phred=17.20;DANN_score=0.958;fathmm-MKL_coding_score=0.554;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.832;MetaSVM_pred=T;MetaLR_score=0.264;MetaLR_pred=T;integrated_fitCons_score=0.564;integrated_confidence_value=0;GERP++_RS=3.49;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.913;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=7.782;GDI_full_10282015=.;dpsi_max_tissue=-0.1559;dpsi_zscore=-0.594;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM054704#"Marfan_syndrome";gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.498e-05;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=9.709e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-451.408,0,-434.135:658:297:328:8300:8059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 63335001 . A C 35.76 . AB=0.322917;ABP=29.1584;AC=2;AF=0.5;AN=4;AO=31;CIGAR=1X;DP=168;DPB=96;DPRA=0;EPP=54.0749;EPPR=3.872;GTI=0;LEN=1;MEANALT=3;MQM=31.6129;MQMR=31.3016;NS=1;NUMALT=1;ODDS=10.6999;PAIRED=0.967742;PAIREDR=0.968254;PAO=0;PQA=0;PQR=0;PRO=0;QA=584;QR=1394;RO=63;RPL=10;RPP=11.486;RPPR=15.4532;RPR=21;RUN=1;SAF=12;SAP=6.44263;SAR=19;SF=0;SRF=54;SRP=72.8076;SRR=9;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=TPM1;GeneDetail.refGene=NM_000366:c.-28A>C,NM_001018005:c.-28A>C,NM_001301244:c.-28A>C,NM_001018006:c.-28A>C,NM_001018020:c.-28A>C,NM_001018007:c.-28A>C,NM_001018004:c.-28A>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-19.6514,0,-81.6621:96:63:31:584:1394 . . . . . . . . . . . . . . . . . . . . . 0/1:-13.8653,0,-51.8553:72:44:27:454:965 . . . . . . . . . . . . . . . . . . . . . chr15 63335907 . C G 3853.82 . AB=0.5248;ABP=6.34916;AC=1;AF=0.5;AN=2;AO=328;CIGAR=1X;DP=625;DPB=625;DPRA=0;EPP=3.434;EPPR=8.92153;GTI=0;LEN=1;MEANALT=3;MQM=26.5457;MQMR=28.6667;NS=1;NUMALT=1;ODDS=834.389;PAIRED=0.911585;PAIREDR=0.902778;PAO=0;PQA=0;PQR=0;PRO=0;QA=8655;QR=8134;RO=288;RPL=120;RPP=54.2782;RPPR=66.8275;RPR=208;RUN=1;SAF=182;SAP=11.5903;SAR=146;SF=0;SRF=146;SRP=3.13094;SRR=142;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018007:exon2:c.C117G:p.L39L,TPM1:NM_001018020:exon2:c.C117G:p.L39L,TPM1:NM_001301244:exon2:c.C117G:p.L39L;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00419329;avsnp147=rs201720832;Kaviar_AF=0.0008215;Kaviar_AC=127;Kaviar_AN=154602;ExAC_ALL=0.0064;ExAC_AFR=0;ExAC_AMR=0.0064;ExAC_EAS=0.0153;ExAC_FIN=0;ExAC_NFE=0.0035;ExAC_OTH=0;ExAC_SAS=0.0083;CLNALLELEID=52853;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5809;dpsi_zscore=-1.169;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0.0105;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0014;gnomAD_exome_SAS=0.0081;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0142;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.676e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . 0/1:-399.581,0,-377.485:625:288:328:8655:8134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 63351736 . G A 13897.70 . AB=0.54965;ABP=33.6296;AC=1;AF=0.5;AN=2;AO=786;CIGAR=1X;DP=1430;DPB=1430;DPRA=0;EPP=201.438;EPPR=184.628;GTI=0;LEN=1;MEANALT=3;MQM=37.4682;MQMR=37.1978;NS=1;NUMALT=1;ODDS=2401.99;PAIRED=0.97201;PAIREDR=0.964912;PAO=0;PQA=0;PQR=0;PRO=0;QA=24338;QR=19979;RO=627;RPL=86;RPP=1044.53;RPPR=751.857;RPR=700;RUN=1;SAF=575;SAP=369.055;SAR=211;SF=0;SRF=471;SRP=346.654;SRR=156;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.00119808;avsnp147=rs182734513;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0044;ExAC_SAS=0.0025;CLNALLELEID=186520;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0491;dpsi_zscore=0.294;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=6.456e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . 0/1:-1578.71,0,-1193.48:1430:627:786:24338:19979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 63351840 . C A 17471.67 . AB=0.526604;ABP=10.867;AC=138;AF=0.5;AN=202;AO=673;CIGAR=1X;DP=130410;DPB=1278;DPRA=0;EPP=95.164;EPPR=57.6052;GTI=0;LEN=1;MEANALT=3;MQM=36.8588;MQMR=37.5709;NS=1;NUMALT=1;ODDS=2328.09;PAIRED=0.992571;PAIREDR=0.97973;PAO=0;PQA=0;PQR=0;PRO=0;QA=18246;QR=16996;RO=592;RPL=406;RPP=65.3506;RPPR=68.8734;RPR=267;RUN=1;SAF=258;SAP=82.5417;SAR=415;SF=0,1;SRF=214;SRP=101.666;SRR=378;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=0.6357;esp6500siv2_ea=0.6458;esp6500siv2_all=0.6357;esp6500siv2_ea=0.6458;1000g2015aug_all=0.705671;avsnp147=rs1071646;Kaviar_AF=0.669267;Kaviar_AC=103470;Kaviar_AN=154602;ExAC_ALL=0.6737;ExAC_AFR=0.6163;ExAC_AMR=0.5628;ExAC_EAS=0.9575;ExAC_FIN=0.6981;ExAC_NFE=0.6546;ExAC_OTH=0.6707;ExAC_SAS=0.7060;CLNALLELEID=40548;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0144;dpsi_zscore=-0.068;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6702;gnomAD_exome_AFR=0.6157;gnomAD_exome_AMR=0.5547;gnomAD_exome_ASJ=0.6603;gnomAD_exome_EAS=0.9583;gnomAD_exome_FIN=0.7008;gnomAD_exome_NFE=0.6527;gnomAD_exome_OTH=0.6742;gnomAD_exome_SAS=0.7053;gnomAD_genome_ALL=0.6615;gnomAD_genome_AFR=0.6124;gnomAD_genome_AMR=0.5610;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.9604;gnomAD_genome_FIN=0.6959;gnomAD_genome_NFE=0.6548;gnomAD_genome_OTH=0.6741;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1147.87,0,-1041.71:1278:592:673:18246:16996 0/1:-1165.56,0,-1600.45:1593:856:715:19586:24842 0/1:-1067.18,0,-1044.27:1218:579:620:16831:16699 0/1:-622.471,0,-826.364:848:441:394:10360:12946 0/1:-1186.4,0,-1031.55:1311:610:690:18748:16890 1/1:-3535.07,-435.038,0:1595:29:1547:42383:481 1/1:-2724.96,-328.05,0:1217:23:1180:32868:412 0/1:-1249.18,0,-1255.19:1458:686:752:20196:20214 1/1:-2394.55,-274.813,0:1113:32:1064:29028:712 0/1:-1155.88,0,-1263.29:1435:708:704:19080:20126 1/1:-2488.58,-292.701,0:1155:30:1108:30026:637 . 1/1:-2477,-294.391,0:1151:27:1099:29921:542 0/1:-770.318,0,-866.779:1017:504:494:12871:14098 1/1:-2257.69,-245.731,0:1023:35:981:27457:705 0/1:-1568.77,0,-1653.45:1814:895:897:24966:25995 1/1:-2295.22,-271.413,0:1100:35:1039:28308:645 . 1/1:-2590.78,-305.393,0:1164:29:1123:31185:521 0/1:-724.604,0,-921.401:962:510:442:11968:14411 0/1:-919.555,0,-853.207:1052:487:552:14848:13999 1/1:-3453.81,-403.439,0:1589:42:1520:41658:818 0/1:-776.708,0,-741.465:889:408:470:12608:12006 0/1:-1456.08,0,-1373.91:1608:760:828:22895:22006 0/1:-1193.92,0,-1379.78:1503:756:730:19791:21529 0/1:-890.223,0,-847.805:1064:511:538:14453:14477 1/1:-2854.75,-305.547,0:1339:47:1265:34758:1074 0/1:-1147.45,0,-1209.68:1354:664:670:18333:18919 0/1:-839.576,0,-618.575:914:383:516:13542:10931 . 0/1:-931.172,0,-1110.72:1188:607:566:15209:17662 0/1:-1606.84,0,-1555.39:1784:838:922:25288:24428 1/1:-3043.46,-336.743,0:1428:48:1356:37031:1035 0/1:-984.127,0,-999.177:1167:563:592:15828:16028 0/1:-1206.94,0,-1153.16:1357:641:700:19125:18403 0/1:-1275.56,0,-1254.61:1514:735:765:20565:20518 1/1:-3300.33,-374.851,0:1546:48:1475:40264:1006 0/1:-1122.98,0,-1421.35:1441:749:677:18265:21920 0/1:-1052.37,0,-1113.42:1280:626:641:17360:18071 1/1:-1997.29,-240.54,0:881:14:854:24108:267 1/1:-3279.06,-384.511,0:1490:40:1431:39379:675 0/1:-876.386,0,-972.123:1076:528:537:14249:15233 1/1:-2866.29,-343.7,0:1272:26:1230:34293:444 0/1:-1074.56,0,-1063.24:1233:592:628:17132:17024 . 0/1:-1113.76,0,-1192.93:1326:654:657:17941:18851 0/1:-1223.15,0,-1122.38:1356:623:710:19065:18080 1/1:-1600.86,-202.376,0:734:8:713:19180:165 1/1:-2477.42,-304.698,0:1116:17:1083:29769:336 . 0/1:-1120.02,0,-1325.27:1435:748:660:18115:20723 1/1:-2526.02,-309.617,0:1210:30:1152:31368:569 . 0/1:-1445.1,0,-1332.48:1606:752:834:22811:21561 1/1:-2023.95,-249.657,0:966:21:916:24720:427 0/1:-757.31,0,-916.613:973:502:465:12509:14406 1/1:-3100.14,-376.475,0:1367:20:1324:37013:349 1/1:-1649.76,-201.545,0:806:23:763:20383:411 . 0/1:-1123.31,0,-1101.09:1263:601:650:17910:17728 1/1:-1733.01,-224.172,0:855:17:824:21727:336 1/1:-3684.41,-442.196,0:1687:35:1620:44103:732 0/1:-931.058,0,-947.616:1112:535:565:14843:15261 0/1:-730.787,0,-751.656:900:436:449:11785:12515 . 1/1:-2916.55,-356.833,0:1345:30:1295:35215:494 0/1:-768.812,0,-599.372:817:361:447:12230:10214 . 0/1:-919.557,0,-841.829:1023:491:519:14299:13738 0/1:-1232.9,0,-1007.59:1320:589:711:19405:16935 1/1:-2638.8,-300.909,0:1247:42:1188:31987:868 0/1:-1471.37,0,-1275.43:1536:701:822:22721:20629 0/1:-1354.6,0,-1429.54:1589:780:792:21737:22666 0/1:-536.345,0,-688.788:844:426:400:9941:11584 1/1:-2991.58,-367.086,0:1325:19:1290:35933:313 0/1:-1289.73,0,-1257.37:1499:714:766:20729:20556 0/1:-1085.9,0,-1282.34:1375:697:661:17587:20160 1/1:-3565.71,-433.745,0:1636:33:1580:43209:657 . 0/1:-700.64,0,-802.497:891:446:431:11567:12695 0/1:-1252.43,0,-1220.69:1464:694:756:19962:19797 0/1:-1268.68,0,-1282.77:1491:712:762:20259:20816 0/1:-1288.09,0,-1139.15:1425:667:746:20222:18771 0/1:-973.391,0,-1069.4:1170:582:573:15679:16877 1/1:-2141.01,-241.325,0:1023:35:967:26308:713 0/1:-959.871,0,-985.372:1127:554:563:15407:15732 0/1:-863.369,0,-953.273:1038:512:517:13978:14931 1/1:-2939.05,-346.25,0:1351:33:1293:35620:650 0/1:-679.673,0,-587.26:742:338:391:10740:9513 0/1:-1083.77,0,-1074.4:1222:590:619:17128:17019 1/1:-4095.19,-486.392,0:1856:38:1788:49671:795 . 0/1:-1467.01,0,-1617.36:1774:860:888:23854:25216 1/1:-3346.39,-408.388,0:1519:29:1461:40291:531 1/1:-3262.68,-383.215,0:1454:27:1400:39333:564 . 0/1:-1453.2,0,-1483.98:1443:729:709:21888:22101:729,709 0/1:-1424.81,0,-1453.29:1420:712:702:21451:21781:712,702 0/1:-1933.11,0,-1595.49:1694:784:905:28068:24297:784,905 . 0/1:-1473.32,0,-1356.57:1376:663:708:21779:20480:663,708 1/1:-4232.42,-439.707,0:1632:24:1594:49731:542:24,1594 0/1:-1415.08,0,-1258.57:1288:616:666:20946:19012:616,666 . 0/1:-1267.21,0,-1496.34:1372:725:638:19510:22134:725,638 1/1:-3406.38,-338.504,0:1322:28:1287:40241:740:28,1287 0/1:-1706.94,0,-1586.67:1586:772:804:25246:23859:772,804 1/1:-3165.06,-335.404,0:1201:13:1181:36909:270:13,1181 0/1:-1396.39,0,-1034.6:1184:526:652:20313:16071:526,652 . 1/1:-4136.05,-429.201,0:1584:20:1553:48643:541:20,1553 0/1:-1479.71,0,-1455.05:1442:711:723:22333:21900:711,723 0/1:-1734.71,0,-1438.24:1577:748:822:25800:22223:748,822 0/1:-1359.37,0,-1233.53:1262:604:655:20230:18721:604,655 1/1:-3538.73,-384.185,0:1354:13:1335:41293:251:13,1335 0/1:-1429.07,0,-1499.9:1437:726:707:21702:22297:726,707 chr15 63351873 . T C 8655.94 . AB=0.509774;ABP=3.56215;AC=23;AF=0.5;AN=44;AO=339;CIGAR=1X;DP=21871;DPB=665;DPRA=0;EPP=21.0034;EPPR=7.6556;GTI=0;LEN=1;MEANALT=3;MQM=37.295;MQMR=36.4873;NS=1;NUMALT=1;ODDS=1244.64;PAIRED=0.938053;PAIREDR=0.971519;PAO=0;PQA=0;PQR=0;PRO=0;QA=10328;QR=9604;RO=316;RPL=185;RPP=9.16601;RPPR=3.03779;RPR=154;RUN=1;SAF=81;SAP=203.689;SAR=258;SF=0,1;SRF=70;SRP=215.87;SRR=246;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.T378C:p.Y126Y,TPM1:NM_001301289:exon3:c.T378C:p.Y126Y,TPM1:NM_000366:exon4:c.T486C:p.Y162Y,TPM1:NM_001018004:exon4:c.T486C:p.Y162Y,TPM1:NM_001018005:exon4:c.T486C:p.Y162Y,TPM1:NM_001018006:exon4:c.T486C:p.Y162Y,TPM1:NM_001018007:exon4:c.T486C:p.Y162Y,TPM1:NM_001018020:exon4:c.T486C:p.Y162Y,TPM1:NM_001301244:exon4:c.T486C:p.Y162Y;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=0.0509;esp6500siv2_ea=0.0713;esp6500siv2_all=0.0509;esp6500siv2_ea=0.0713;1000g2015aug_all=0.0241613;avsnp147=rs11558747;Kaviar_AF=0.0524314;Kaviar_AC=8106;Kaviar_AN=154602;ExAC_ALL=0.0533;ExAC_AFR=0.0104;ExAC_AMR=0.0226;ExAC_EAS=0;ExAC_FIN=0.0957;ExAC_NFE=0.0766;ExAC_OTH=0.0773;ExAC_SAS=0.0172;CLNALLELEID=40549;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0211;dpsi_zscore=0.142;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0548;gnomAD_exome_AFR=0.0093;gnomAD_exome_AMR=0.0332;gnomAD_exome_ASJ=0.1055;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0999;gnomAD_exome_NFE=0.0719;gnomAD_exome_OTH=0.0640;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0529;gnomAD_genome_AFR=0.0100;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0942;gnomAD_genome_NFE=0.0714;gnomAD_genome_OTH=0.0764;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-658.674,0,-571.205:665:316:339:10328:9604 . . . . . . . . . 0/1:-683.228,0,-751.979:816:410:391:11202:12238 . . . . . . . . . . . 0/1:-642.096,0,-793.343:818:415:386:11003:12780 . 0/1:-975.959,0,-1020.8:1059:531:512:15397:16292 0/1:-563.749,0,-755.341:754:399:339:9687:12545 . 0/1:-830.236,0,-884.723:938:461:462:13538:14161 . . . . 0/1:-987.257,0,-1078.33:1165:571:570:16185:17581 . . . . . . . . 0/1:-1144.77,0,-1371.26:1314:683:610:18316:21402 . . . . . . . 0/1:-1131.46,0,-1420.37:1339:708:610:18328:21917 0/1:-1054.7,0,-1362.69:1272:682:575:17323:21174 . . . . 1/1:-1469.58,-164.589,0:649:10:626:18180:316 . . . . . . . . 0/1:-938.322,0,-953.198:1011:500:491:14924:15164 0/1:-672.404,0,-869.122:826:436:376:10993:13525 0/1:-784.437,0,-1076.92:1027:556:452:13309:17049 . . . 0/1:-570.719,0,-523.721:672:321:343:9735:9692 . 0/1:-1026.26,0,-1178.15:1222:629:575:16869:19264 0/1:-929.238,0,-1024.35:1045:527:502:14868:16083 . 0/1:-622.514,0,-628.304:682:327:343:10007:9800 . . . 0/1:-834.979,0,-1245.44:1160:641:498:14094:19310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1138.21,0,-1209.75:1145:580:551:17193:18367:580,551 0/1:-1195.21,0,-1425.49:1271:672:586:18213:21206:672,586 0/1:-956.311,0,-1149.18:1021:536:470:14614:16911:536,470 . . chr15 63353451 . A G 9827.20 . AB=0.453435;ABP=27.6822;AC=1;AF=0.5;AN=2;AO=594;CIGAR=1X;DP=1310;DPB=1310;DPRA=0;EPP=64.7912;EPPR=92.5044;GTI=0;LEN=1;MEANALT=3;MQM=37.9865;MQMR=39.4863;NS=1;NUMALT=1;ODDS=2262.8;PAIRED=0.93771;PAIREDR=0.979798;PAO=0;PQA=0;PQR=0;PRO=0;QA=16375;QR=20775;RO=693;RPL=365;RPP=70.6257;RPPR=72.5758;RPR=229;RUN=1;SAF=271;SAP=12.8953;SAR=323;SF=0;SRF=317;SRP=13.9178;SRR=376;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_000366:exon6:c.A618G:p.A206A,TPM1:NM_001018006:exon6:c.A618G:p.A206A,TPM1:NM_001018020:exon6:c.A618G:p.A206A;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=0.00259585;avsnp147=rs144700226;Kaviar_AF=0.0010673;Kaviar_AC=165;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0.0058;CLNALLELEID=52600;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8550;dpsi_zscore=1.427;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0050;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . 0/1:-1006.5,0,-1381.42:1310:693:594:16375:20775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 63354009 . G C 4948.03 . AB=0.453507;ABP=14.5195;AC=2;AF=0.5;AN=4;AO=278;CIGAR=1X;DP=1252;DPB=613;DPRA=0;EPP=50.5327;EPPR=74.7771;GTI=0;LEN=1;MEANALT=3;MQM=37.9101;MQMR=37.6729;NS=1;NUMALT=1;ODDS=1088.59;PAIRED=0.964029;PAIREDR=0.922118;PAO=0;PQA=0;PQR=0;PRO=0;QA=8160;QR=9853;RO=321;RPL=198;RPP=111.771;RPPR=129.977;RPR=80;RUN=1;SAF=122;SAP=12.0399;SAR=156;SF=0,1;SRF=151;SRP=5.45236;SRR=170;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0128;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0128;1000g2015aug_all=0.00898562;avsnp147=rs28730802;Kaviar_AF=0.0119727;Kaviar_AC=1851;Kaviar_AN=154602;ExAC_ALL=0.0128;ExAC_AFR=0.0035;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0.0032;ExAC_NFE=0.0139;ExAC_OTH=0.0182;ExAC_SAS=0.0297;CLNALLELEID=186528;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3303;dpsi_zscore=0.934;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0113;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0089;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0136;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0281;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0118;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-497.775,0,-630.864:613:321:278:8160:9853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-616.482,0,-682.801:639:328:305:9482:10318:328,305 . . . . . . . . . chr15 63358029 . TTTCTTTTTTTTTTTTTTCTCATTGTG TTTCTTTTTTTTTTTTTCTCATTGTG 204.75 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=64;CIGAR=4M1D22M;DP=832;DPB=836.185;DPRA=0;EPP=29.6108;EPPR=30.0702;GTI=0;LEN=1;MEANALT=404;MQM=33.1406;MQMR=33.7692;NS=1;NUMALT=1;ODDS=47.1445;PAIRED=0.96875;PAIREDR=0.961538;PAO=30.1667;PQA=732;PQR=840.5;PRO=33.6667;QA=1049;QR=707;RO=26;RPL=21;RPP=19.4321;RPPR=6.01695;RPR=43;RUN=1;SAF=15;SAP=42.2325;SAR=49;SF=1;SRF=8;SRP=11.3621;SRR=18;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs58304847;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.119;gnomAD_genome_AFR=0.0780;gnomAD_genome_AMR=0.1972;gnomAD_genome_ASJ=0.0958;gnomAD_genome_EAS=0.3803;gnomAD_genome_FIN=0.1259;gnomAD_genome_NFE=0.1093;gnomAD_genome_OTH=0.1239;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-25.5124,-25.4561,0:832:26:64:1049:707:26,64 chr15 63358030 . TTCTTTTTTTTTTTTTTCTCATTGTG TTCTTTTTTTTTTTTTCTCATTGTG 1257.29 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=116;CIGAR=3M1D22M;DP=1070;DPB=1060.31;DPRA=0;EPP=15.6647;EPPR=3.13803;GTI=0;LEN=1;MEANALT=411;MQM=34.319;MQMR=31.8235;NS=1;NUMALT=1;ODDS=191.951;PAIRED=0.956897;PAIREDR=0.823529;PAO=40.6667;PQA=991.667;PQR=1140.67;PRO=45.6667;QA=2093;QR=515;RO=17;RPL=59;RPP=3.08518;RPPR=6.20364;RPR=57;RUN=1;SAF=32;SAP=53.6281;SAR=84;SF=1;SRF=6;SRP=6.20364;SRR=11;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs58304847;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.119;gnomAD_genome_AFR=0.0780;gnomAD_genome_AMR=0.1972;gnomAD_genome_ASJ=0.0958;gnomAD_genome_EAS=0.3803;gnomAD_genome_FIN=0.1259;gnomAD_genome_NFE=0.1093;gnomAD_genome_OTH=0.1239;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-132.812,-72.3071,0:1070:17:116:2093:515:17,116 . . . . . . . . . chr15 63358031 . TCTTTTTTTTTTTTTTCTCATTGTG TCTTTTTTTTTTTTTCTCATTGTG 869.49 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=91;CIGAR=2M1D22M;DP=817;DPB=804.28;DPRA=0;EPP=55.7222;EPPR=5.80219;GTI=0;LEN=1;MEANALT=365;MQM=29.8681;MQMR=36.5714;NS=1;NUMALT=1;ODDS=126.157;PAIRED=0.945055;PAIREDR=0.857143;PAO=30.5;PQA=804.167;PQR=885.167;PRO=33.5;QA=1456;QR=201;RO=7;RPL=31;RPP=23.0785;RPPR=3.32051;RPR=60;RUN=1;SAF=21;SAP=60.3038;SAR=70;SF=1;SRF=3;SRP=3.32051;SRR=4;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs58304847;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.119;gnomAD_genome_AFR=0.0780;gnomAD_genome_AMR=0.1972;gnomAD_genome_ASJ=0.0958;gnomAD_genome_EAS=0.3803;gnomAD_genome_FIN=0.1259;gnomAD_genome_NFE=0.1093;gnomAD_genome_OTH=0.1239;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-101.732,-68.2654,0:817:7:91:1456:201:7,91 . . . . . . . . . . chr15 63358047 . C A 93.11 . AB=0.347144;ABP=184.239;AC=3;AF=0.5;AN=6;AO=310;CIGAR=1X;DP=2768;DPB=893;DPRA=0;EPP=205.448;EPPR=391.03;GTI=0;LEN=1;MEANALT=3;MQM=20.6387;MQMR=24.6845;NS=1;NUMALT=1;ODDS=13.4248;PAIRED=0.945161;PAIREDR=0.951654;PAO=0;PQA=0;PQR=0;PRO=0;QA=4543;QR=9144;RO=393;RPL=214;RPP=100.544;RPPR=204.582;RPR=96;RUN=1;SAF=284;SAP=469.274;SAR=26;SF=0;SRF=69;SRP=362.298;SRR=324;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-101.085,0,-387.05:893:393:310:4543:9144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-117.521,0,-444.089:1096:474:379:5533:10452 . . 0/1:-79.2725,0,-296.687:779:346:277:4123:7571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 63362179 . G A 9265.55 . AB=0.430401;ABP=52.2792;AC=2;AF=0.5;AN=4;AO=504;CIGAR=1X;DP=2522;DPB=1171;DPRA=0;EPP=3.02753;EPPR=4.64736;GTI=0;LEN=1;MEANALT=3;MQM=38.1766;MQMR=38.7741;NS=1;NUMALT=1;ODDS=2014.91;PAIRED=0.946429;PAIREDR=0.950156;PAO=0;PQA=0;PQR=0;PRO=0;QA=14876;QR=19231;RO=642;RPL=339;RPP=133.454;RPPR=228.153;RPR=165;RUN=1;SAF=224;SAP=16.5217;SAR=280;SF=0,1;SRF=326;SRP=3.34854;SRR=316;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018008:c.*37G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=0.0233;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0233;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0247604;avsnp147=rs73440433;Kaviar_AF=0.0064876;Kaviar_AC=1003;Kaviar_AN=154602;ExAC_ALL=0.0068;ExAC_AFR=0.0746;ExAC_AMR=0.0024;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0002;ExAC_OTH=0.0022;ExAC_SAS=6.083e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0055;gnomAD_exome_AFR=0.0775;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.813e-05;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0193;gnomAD_genome_AFR=0.0679;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-901.295,0,-1277.53:1171:642:504:14876:19231 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1222.3,0,-1550.45:1351:720:616:18855:22591:720,616 . . . . . chr15 63363394 . ATTCTTTCGT ATTCTTTCATTTTGTTTTGT,TTTCTTTCGT 2461.18 . AB=0;ABP=0;AC=2,0;AF=0;AN=6;AO=74;CIGAR=1X;DP=2559;DPB=1146;DPRA=0;EPP=115.809;EPPR=84.3389;GTI=0;LEN=1;MEANALT=3;MQM=34.7432;MQMR=32.8614;NS=1;NUMALT=1;ODDS=1041.66;PAIRED=0.972973;PAIREDR=0.988764;PAO=0;PQA=0;PQR=0;PRO=0;QA=1982;QR=34443;RO=1068;RPL=3;RPP=138.698;RPPR=7.69482;RPR=71;RUN=1;SAF=9;SAP=95.0338;SAR=65;SF=1;SRF=506;SRP=9.38646;SRR=562;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3\x3bUTR3\x3bUTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTTGTTTT,NM_001018020:c.*30_*31insATTTTGTTTT,NM_001018007:c.*30_*31insATTTTGTTTT,NM_001018004:c.*30_*31insATTTTGTTTT,NM_001301289:c.*30_*31insATTTTGTTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.127396;avsnp147=rs201620283;Kaviar_AF=0.0115328;Kaviar_AC=1783;Kaviar_AN=154602;ExAC_ALL=0.4675;ExAC_AFR=0.3224;ExAC_AMR=0.3552;ExAC_EAS=0.4435;ExAC_FIN=0.5428;ExAC_NFE=0.5264;ExAC_OTH=0.5033;ExAC_SAS=0.3806;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4542;gnomAD_genome_AFR=0.3253;gnomAD_genome_AMR=0.3849;gnomAD_genome_ASJ=0.5533;gnomAD_genome_EAS=0.4392;gnomAD_genome_FIN=0.5327;gnomAD_genome_NFE=0.5107;gnomAD_genome_OTH=0.5082;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*23A>T,NM_001018020:c.*23A>T,NM_001018007:c.*23A>T,NM_001018004:c.*23A>T,NM_001301289:c.*23A>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-2370.87:1146:1068:.,74:.,1982:34443:1068,74 . . . . . 1/1:-748.462,-159.859,0,.,.,.:650:2:448,.:8661,.:65:2,448 . . . . . . 0/0:.,.,.,.,.,-1523.36:763:704:.,56:.,1495:22422:704,56 . chr15 63363395 . TTCTTTCGT TTCTTTCATTTTGTTTTGT 7492.31 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=475;CIGAR=7M10I2M;DP=638;DPB=1294;DPRA=0;EPP=3.78289;EPPR=5.18177;GTI=0;LEN=10;MEANALT=78;MQM=31.4253;MQMR=24;NS=1;NUMALT=1;ODDS=798.782;PAIRED=0.985263;PAIREDR=1;PAO=54.5;PQA=1536.5;PQR=1451.5;PRO=51.5;QA=8737;QR=26;RO=1;RPL=188;RPP=47.8158;RPPR=5.18177;RPR=287;RUN=1;SAF=216;SAP=11.463;SAR=259;SF=1;SRF=1;SRP=5.18177;SRR=0;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3\x3bUTR3\x3bUTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTTGTTTT,NM_001018020:c.*30_*31insATTTTGTTTT,NM_001018007:c.*30_*31insATTTTGTTTT,NM_001018004:c.*30_*31insATTTTGTTTT,NM_001301289:c.*30_*31insATTTTGTTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.127396;avsnp147=rs201620283;Kaviar_AF=0.0115328;Kaviar_AC=1783;Kaviar_AN=154602;ExAC_ALL=0.4675;ExAC_AFR=0.3224;ExAC_AMR=0.3552;ExAC_EAS=0.4435;ExAC_FIN=0.5428;ExAC_NFE=0.5264;ExAC_OTH=0.5033;ExAC_SAS=0.3806;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4542;gnomAD_genome_AFR=0.3253;gnomAD_genome_AMR=0.3849;gnomAD_genome_ASJ=0.5533;gnomAD_genome_EAS=0.4392;gnomAD_genome_FIN=0.5327;gnomAD_genome_NFE=0.5107;gnomAD_genome_OTH=0.5082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-758.064,-204.236,0:638:1:475:8737:26:1,475 . chr15 63363399 . TTCGT TTCATTTTGTTTTGT,TTCATTTTGT 8839.87 . AB=0.364381,0.429887;ABP=159.092,44.7261;AC=3,3;AF=0.5,0.5;AN=6;AO=356,420;CIGAR=3M10I2M,3M5I2M;DP=2562;DPB=2251.8;DPRA=0,0;EPP=3.88865,21.6229;EPPR=3.44459;GTI=0;LEN=10,5;MEANALT=65,65;MQM=30.882,34.5452;MQMR=41.6;NS=1;NUMALT=2;ODDS=598.98;PAIRED=0.994382,0.988095;PAIREDR=1;PAO=8,8;PQA=235.25,235.25;PQR=235.25;PRO=8;QA=6414,8492;QR=164;RO=5;RPL=152,190;RPP=19.5037,11.2826;RPPR=3.44459;RPR=204,230;RUN=1,1;SAF=142,186;SAP=34.6308,14.9224;SAR=214,234;SF=1;SRF=3;SRP=3.44459;SRR=2;TYPE=ins,ins;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3\x3bUTR3\x3bUTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTTGTTTT,NM_001018020:c.*30_*31insATTTTGTTTT,NM_001018007:c.*30_*31insATTTTGTTTT,NM_001018004:c.*30_*31insATTTTGTTTT,NM_001301289:c.*30_*31insATTTTGTTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.127396;avsnp147=rs201620283;Kaviar_AF=0.0115328;Kaviar_AC=1783;Kaviar_AN=154602;ExAC_ALL=0.4675;ExAC_AFR=0.3224;ExAC_AMR=0.3552;ExAC_EAS=0.4435;ExAC_FIN=0.5428;ExAC_NFE=0.5264;ExAC_OTH=0.5033;ExAC_SAS=0.3806;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4542;gnomAD_genome_AFR=0.3253;gnomAD_genome_AMR=0.3849;gnomAD_genome_ASJ=0.5533;gnomAD_genome_EAS=0.4392;gnomAD_genome_FIN=0.5327;gnomAD_genome_NFE=0.5107;gnomAD_genome_OTH=0.5082;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTT,NM_001018020:c.*30_*31insATTTT,NM_001018007:c.*30_*31insATTTT,NM_001018004:c.*30_*31insATTTT,NM_001301289:c.*30_*31insATTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.32528;avsnp147=rs201620283;Kaviar_AF=0.0098576;Kaviar_AC=1524;Kaviar_AN=154602;ExAC_ALL=0.3422;ExAC_AFR=0.3762;ExAC_AMR=0.5522;ExAC_EAS=0.5528;ExAC_FIN=0.2168;ExAC_NFE=0.2517;ExAC_OTH=0.2856;ExAC_SAS=0.4817;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3138;gnomAD_genome_AFR=0.3671;gnomAD_genome_AMR=0.4652;gnomAD_genome_ASJ=0.2033;gnomAD_genome_EAS=0.5520;gnomAD_genome_FIN=0.2322;gnomAD_genome_NFE=0.2721;gnomAD_genome_OTH=0.2843;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/2:-992.603,-593.808,-461.093,-425.839,0,-273.858:977:5:356,420:6414,8492:164:5,356,420 . . 1/2:-863.681,-535.722,-440.881,-337.9,0,-226.202:782:4:286,342:5047,7454:98:4,286,342 . . . . . 1/2:-854.553,-502.327,-397.653,-366.285,0,-248.366:803:3:304,348:5453,7062:86:3,304,348 . . . . . chr15 63363401 . CGT CATTTTGTTTTGT,CATTTTGT 5538.93 . AB=0.339166,0.433378;ABP=169.951,31.6544;AC=100,58;AF=0.5,0.5;AN=216;AO=252,322;CIGAR=1M10I1M,1M5I1M;DP=92255;DPB=3017;DPRA=0,0;EPP=3.56179,3.03727;EPPR=6.91895;GTI=0;LEN=10,5;MEANALT=45,45;MQM=28.2143,34.1832;MQMR=34.2;NS=1;NUMALT=2;ODDS=465.964;PAIRED=0.968254,0.993789;PAIREDR=1;PAO=4,4;PQA=65,65;PQR=65;PRO=4;QA=5367,7360;QR=128;RO=5;RPL=101,138;RPP=24.5527,17.28;RPPR=6.91895;RPR=151,184;RUN=1,1;SAF=121,164;SAP=3.872,3.25307;SAR=131,158;SF=0,1;SRF=2;SRP=3.44459;SRR=3;TYPE=ins,ins;technology.ILLUMINA=1,1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3\x3bUTR3\x3bUTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTTGTTTT,NM_001018020:c.*30_*31insATTTTGTTTT,NM_001018007:c.*30_*31insATTTTGTTTT,NM_001018004:c.*30_*31insATTTTGTTTT,NM_001301289:c.*30_*31insATTTTGTTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.127396;avsnp147=rs201620283;Kaviar_AF=0.0115328;Kaviar_AC=1783;Kaviar_AN=154602;ExAC_ALL=0.4675;ExAC_AFR=0.3224;ExAC_AMR=0.3552;ExAC_EAS=0.4435;ExAC_FIN=0.5428;ExAC_NFE=0.5264;ExAC_OTH=0.5033;ExAC_SAS=0.3806;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4542;gnomAD_genome_AFR=0.3253;gnomAD_genome_AMR=0.3849;gnomAD_genome_ASJ=0.5533;gnomAD_genome_EAS=0.4392;gnomAD_genome_FIN=0.5327;gnomAD_genome_NFE=0.5107;gnomAD_genome_OTH=0.5082;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTT,NM_001018020:c.*30_*31insATTTT,NM_001018007:c.*30_*31insATTTT,NM_001018004:c.*30_*31insATTTT,NM_001301289:c.*30_*31insATTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.32528;avsnp147=rs201620283;Kaviar_AF=0.0098576;Kaviar_AC=1524;Kaviar_AN=154602;ExAC_ALL=0.3422;ExAC_AFR=0.3762;ExAC_AMR=0.5522;ExAC_EAS=0.5528;ExAC_FIN=0.2168;ExAC_NFE=0.2517;ExAC_OTH=0.2856;ExAC_SAS=0.4817;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3138;gnomAD_genome_AFR=0.3671;gnomAD_genome_AMR=0.4652;gnomAD_genome_ASJ=0.2033;gnomAD_genome_EAS=0.5520;gnomAD_genome_FIN=0.2322;gnomAD_genome_NFE=0.2721;gnomAD_genome_OTH=0.2843;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/2:.,.,-409.884,.,0,-213.198:743:5:252,322:5367,7360:128 1/2:.,.,-602.758,.,0,-354.307:1051:6:362,460:7748,10536:191 1/2:.,.,-448.387,.,0,-341.899:908:3:345,362:7636,8494:99 0/1:.,.,-656.34,.,.,.:608:329:188,.:4047,.:9718 2/2:.,.,.,.,.,0:928:4:.,674:.,14857:101 1/1:.,.,0,.,.,.:910:6:674,.:13805,.:175 1/1:.,.,0,.,.,.:743:8:534,.:11116,.:211 1/2:.,.,-544.975,.,0,-236.848:937:5:290,429:5910,9848:140 1/2:.,.,-345.768,.,0,-249.595:708:4:267,286:5369,6419:142 0/1:.,.,-1031.15,.,.,.:986:524:313,.:6612,.:15287 1/1:.,.,0,.,.,.:664:7:484,.:10229,.:203 0/2:.,.,.,.,.,-830.118:925:421:.,359:.,8392:12356 1/1:.,.,0,.,.,.:681:7:525,.:10870,.:167 0/2:.,.,.,.,.,-598.513:681:310:.,252:.,5538:9238 1/2:.,.,-324.813,.,0,-256.049:687:6:276,280:5868,6329:181 0/2:.,.,.,.,.,-1319.64:1314:659:.,447:.,10497:19830 1/1:.,.,0,.,.,.:651:4:464,.:9416,.:106 0/2:.,.,.,.,.,-1898.59:1802:943:.,602:.,13520:27955 1/1:.,.,0,.,.,.:794:7:590,.:12815,.:191 0/1:.,.,-646.575,.,.,.:686:332:241,.:4956,.:9907 0/1:.,.,-772.679,.,.,.:698:392:210,.:4578,.:11515 1/1:.,.,0,.,.,.:946:5:712,.:14444,.:136 0/1:.,.,-555.191,.,.,.:577:280:174,.:3552,.:8313 0/1:.,.,-1030.77,.,.,.:1006:511:323,.:6554,.:15247 0/1:.,.,-881.512,.,.,.:866:438:293,.:6055,.:13048 0/2:.,.,.,.,.,-575.819:706:314:.,280:.,6300:9132 1/1:.,.,0,.,.,.:806:8:584,.:12144,.:222 0/1:.,.,-810.086,.,.,.:909:419:352,.:7346,.:12648 0/1:.,.,-779.525,.,.,.:761:397:248,.:4999,.:11603 0/2:.,.,.,.,.,-672.23:727:342:.,267:.,5687:10189 0/1:.,.,-937.26,.,.,.:822:462:245,.:5012,.:13730 0/1:.,.,-1357.71,.,.,.:1146:660:309,.:6401,.:19675 1/1:.,.,0,.,.,.:898:6:636,.:13329,.:187 1/2:.,.,-393.106,.,0,-283.974:847:1:300,339:6161,7273:20 1/2:.,.,-532.315,.,0,-284.702:958:3:325,399:6926,9198:93 0/1:.,.,-1082.99,.,.,.:1094:545:380,.:7497,.:16288 1/1:.,.,0,.,.,.:850:2:658,.:14097,.:56 0/1:.,.,-997.797,.,.,.:971:505:331,.:6905,.:14875 0/1:.,.,-864.386,.,.,.:869:432:292,.:6300,.:12754 1/1:.,.,0,.,.,.:502:3:365,.:7675,.:92 1/2:.,.,-540.861,.,0,-290.005:1002:4:353,437:7320,9880:78 0/2:.,.,.,.,.,-777.826:860:398:.,328:.,7497:11676 1/1:.,.,0,.,.,.:834:0:625,.:12795,.:0 0/1:.,.,-864.112,.,.,.:871:434:295,.:6314,.:12715 0/2:.,.,.,.,.,-1266.86:1325:652:.,495:.,11336:19183 1/2:.,.,-472.678,.,0,-222.424:847:6:285,367:5783,8381:157 1/2:.,.,-402.362,.,0,-289.777:864:2:326,340:6717,7496:59 1/2:.,.,-221.916,.,0,-143.703:447:3:158,183:3254,4152:78 1/2:.,.,-371.445,.,0,-183.208:661:1:234,302:4752,6754:23 0/2:.,.,.,.,.,-1037.2:1129:527:.,447:.,10746:15654 1/2:.,.,-502.829,.,0,-310.774:987:5:342,409:7128,9268:121 1/1:.,.,0,.,.,.:804:4:569,.:11265,.:102 0/2:.,.,.,.,.,-1150.59:1259:574:.,532:.,11792:17653 0/1:.,.,-1091.03,.,.,.:1075:544:360,.:7083,.:16205 1/1:.,.,0,.,.,.:580:3:414,.:7995,.:61 2/2:.,.,.,.,.,0:695:4:.,543:.,12384:124 1/2:.,.,-444.539,.,0,-315.01:927:1:333,382:6994,8310:36 2/2:.,.,.,.,.,0:542:0:.,407:.,8529:0 . 1/2:.,.,-490.635,.,0,-241.333:829:6:282,372:5869,8676:199 1/1:.,.,0,.,.,.:533:4:362,.:7349,.:91 1/2:.,.,-498.318,.,0,-304.25:998:7:356,417:7405,9451:170 0/2:.,.,.,.,.,-626.46:664:319:.,232:.,5384:9472 1/2:.,.,-313.469,.,0,-180.27:609:6:201,254:4098,5821:171 0/2:.,.,.,.,.,-1200.05:1216:598:.,442:.,9777:17872 1/1:.,.,0,.,.,.:792:2:585,.:12525,.:63 0/2:.,.,.,.,.,-622.403:581:316:.,164:.,3599:9345 . 0/1:.,.,-652.131,.,.,.:622:329:202,.:4164,.:9474 0/1:.,.,-806.172,.,.,.:854:418:279,.:5902,.:12155 1/1:.,.,0,.,.,.:758:4:554,.:11793,.:140 0/1:.,.,-1220.13,.,.,.:1216:613:409,.:8661,.:18209 0/1:.,.,-1101.9,.,.,.:1099:571:362,.:7588,.:16661 0/1:.,.,-534.286,.,.,.:602:297:180,.:3241,.:8132 1/2:.,.,-387.115,.,0,-293.104:792:1:303,330:6896,7608:25 0/2:.,.,.,.,.,-990.984:1036:501:.,344:.,7892:15016 0/2:.,.,.,.,.,-985.817:972:499:.,337:.,7708:14715 1/1:.,.,0,.,.,.:967:10:703,.:14756,.:265 0/2:.,.,.,.,.,-650.32:660:334:.,236:.,5625:9996 0/1:.,.,-580.11,.,.,.:509:274:157,.:3140,.:8415 0/1:.,.,-953.488,.,.,.:958:493:322,.:7032,.:14468 0/1:.,.,-989.433,.,.,.:1046:513:364,.:7475,.:15008 0/1:.,.,-1062.72,.,.,.:1039:540:341,.:7006,.:15714 0/2:.,.,.,.,.,-879.798:904:444:.,354:.,8125:13266 1/1:.,.,0,.,.,.:728:9:508,.:10527,.:268 0/1:.,.,-789.788,.,.,.:780:394:265,.:5856,.:12006 0/1:.,.,-825.047,.,.,.:792:410:281,.:5784,.:12384 2/2:.,.,.,.,.,0:904:9:.,690:.,15702:235 0/2:.,.,.,.,.,-522.681:556:268:.,217:.,5062:7794 0/1:.,.,-848.61,.,.,.:869:431:315,.:6694,.:12768 1/1:.,.,0,.,.,.:1092:12:803,.:16215,.:327 2/2:.,.,.,.,.,0:844:2:.,654:.,14541:58 0/2:.,.,.,.,.,-1150.22:1213:584:.,440:.,10324:17191 1/2:.,.,-475.342,.,0,-317.039:857:1:306,360:6459,8131:36 1/1:.,.,0,.,.,.:918:3:685,.:14164,.:89 . 0/1:-266.598,0,-921.713,.,.,.:854:430:304,.:5664,.:13462:430,304 0/1:-212.942,0,-928.85,.,.,.:827:442:278,.:5001,.:13362:442,278 0/1:-266.598,0,-1118,.,.,.:990:520:319,.:6050,.:16249:520,319 0/2:-265.884,.,.,0,.,-482.777:534:231:.,217:.,4602:7181:231,217 1/2:-790.247,-472.119,-401.065,-313.915,0,-227.51:734:4:254,305:4591,6535:88:4,254,305 . 0/1:-238.814,0,-786.747,.,.,.:755:365:265,.:4998,.:11433:365,265 0/2:-440.003,.,.,0,.,-883.804:950:434:.,367:.,7850:13238:434,367 . 1/2:-685.728,-423.999,-360.723,-252.752,0,-171.716:715:5:245,304:4035,6098:138:5,245,304 2/2:-1323.03,.,.,-212.179,.,0:975:6:.,749:.,15413:178:6,749 . 0/1:-203.035,0,-871.924,.,.,.:808:414:261,.:4737,.:12614:414,261 0/2:-420.534,.,.,0,.,-826.031:882:403:.,369:.,7562:12465:403,369 . 0/1:-209.607,0,-979.617,.,.,.:872:460:292,.:5091,.:14162:460,292 0/1:-222.997,0,-1053.58,.,.,.:925:487:296,.:5351,.:15080:487,296 0/1:-172.631,0,-838.177,.,.,.:725:389:229,.:4171,.:11956:389,229 . 2/2:-1139.76,.,.,-186.372,.,0:825:7:.,662:.,13342:189:7,662 chr15 66679649 . TCCCCCCGGA TCCCCCCCGGA,GCCCCCCGGA 738.71 . AB=0;ABP=0;AC=4,0;AF=0;AN=22;AO=26;CIGAR=1X;DP=5295;DPB=485;DPRA=0;EPP=43.4331;EPPR=10.2692;GTI=0;LEN=1;MEANALT=3;MQM=31.6154;MQMR=34.4066;NS=1;NUMALT=1;ODDS=514.742;PAIRED=0.884615;PAIREDR=0.938462;PAO=0;PQA=0;PQR=0;PRO=0;QA=401;QR=13451;RO=455;RPL=10;RPP=6.01695;RPPR=289.478;RPR=16;RUN=1;SAF=8;SAP=11.3621;SAR=18;SF=1;SRF=275;SRP=46.0818;SRR=180;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=MAP2K1;GeneDetail.refGene=NM_002755:c.-37_-36insC;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0896;esp6500siv2_ea=0.0874;esp6500siv2_all=0.0896;esp6500siv2_ea=0.0874;1000g2015aug_all=0.147165;avsnp147=rs142027715;Kaviar_AF=0.0004851;Kaviar_AC=75;Kaviar_AN=154602;ExAC_ALL=0.1081;ExAC_AFR=0.1018;ExAC_AMR=0.1238;ExAC_EAS=0.3142;ExAC_FIN=0.1429;ExAC_NFE=0.1024;ExAC_OTH=0.15;ExAC_SAS=0.0969;CLNALLELEID=49180;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1185;gnomAD_exome_AFR=0.0888;gnomAD_exome_AMR=0.1585;gnomAD_exome_ASJ=0.1286;gnomAD_exome_EAS=0.3333;gnomAD_exome_FIN=0.0807;gnomAD_exome_NFE=0.0835;gnomAD_exome_OTH=0.1170;gnomAD_exome_SAS=0.0962;gnomAD_genome_ALL=0.1005;gnomAD_genome_AFR=0.0982;gnomAD_genome_AMR=0.1352;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.3393;gnomAD_genome_FIN=0.0891;gnomAD_genome_NFE=0.0760;gnomAD_genome_OTH=0.0967;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=MAP2K1;GeneDetail.refGene=NM_002755:c.-37T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-1021.1:485:455:.,26:.,401:13451:455,26 0/0:.,.,.,.,.,-1139.84:548:514:.,31:.,498:15318:514,31 . . . 0/0:.,.,.,.,.,-972.151:485:445:.,35:.,599:12929:445,35 0/1:-186.418,0,-447.016,.,.,.:487:228:152,.:3487,.:7039:228,152 . 0/1:-208.509,0,-431.398,.,.,.:517:230:180,.:3895,.:7140:230,180 . 0/1:-192.882,0,-263.634,.,.,.:351:136:140,.:3175,.:4188:136,140 0/0:.,.,.,.,.,-819.662:411:383:.,23:.,374:11035:383,23 0/0:.,.,.,.,.,-946.078:454:426:.,24:.,378:12295:426,24 . 0/1:-155.445,0,-475.956,.,.,.:468:241:131,.:3097,.:7492:241,131 0/0:.,.,.,.,.,-1025.75:509:475:.,29:.,510:13937:475,29 . . 0/0:.,.,.,.,.,-1188.24:580:545:.,29:.,473:15937:545,29 chr15 66679691 . C T 1560.96 . AB=0.415313;ABP=29.859;AC=1;AF=0.5;AN=2;AO=179;CIGAR=1X;DP=431;DPB=431;DPRA=0;EPP=3.11948;EPPR=3.85188;GTI=0;LEN=1;MEANALT=3;MQM=23.1117;MQMR=21.9569;NS=1;NUMALT=1;ODDS=359.425;PAIRED=0.832402;PAIREDR=0.84689;PAO=0;PQA=0;PQR=0;PRO=0;QA=4514;QR=5726;RO=209;RPL=66;RPP=29.808;RPPR=39.1773;RPR=113;RUN=1;SAF=108;SAP=19.6178;SAR=71;SF=0;SRF=119;SRP=11.7481;SRR=90;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MAP2K1:NM_002755:exon1:c.C6T:p.P2P;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs377720622;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=49209;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=6.387e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-168.037,0,-218.374:431:209:179:4514:5726 . . . . . . . . . . . . . . . . . . . . . . chr15 66679798 . C G 959.13 . AB=0.415205;ABP=13.6899;AC=3;AF=0.5;AN=6;AO=71;CIGAR=1X;DP=542;DPB=171;DPRA=0;EPP=11.8491;EPPR=12.8827;GTI=0;LEN=1;MEANALT=3;MQM=27.4648;MQMR=26.9072;NS=1;NUMALT=1;ODDS=141.05;PAIRED=0.957746;PAIREDR=0.927835;PAO=0;PQA=0;PQR=0;PRO=0;QA=1962;QR=2747;RO=97;RPL=53;RPP=40.4758;RPPR=70.7289;RPR=18;RUN=1;SAF=26;SAP=14.0512;SAR=45;SF=0;SRF=38;SRP=12.8827;SRR=59;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0140;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0140;1000g2015aug_all=0.00758786;avsnp147=rs56149436;Kaviar_AF=0.0048835;Kaviar_AC=755;Kaviar_AN=154602;ExAC_ALL=0.0096;ExAC_AFR=0.0043;ExAC_AMR=0.0158;ExAC_EAS=0;ExAC_FIN=0.1176;ExAC_NFE=0.0170;ExAC_OTH=0.0055;ExAC_SAS=0.0042;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0146;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0075;gnomAD_exome_ASJ=0.0102;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0414;gnomAD_exome_NFE=0.0197;gnomAD_exome_OTH=0.0140;gnomAD_exome_SAS=0.0036;gnomAD_genome_ALL=0.0182;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0387;gnomAD_genome_NFE=0.0254;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-74.2533,0,-125.964:171:97:71:1962:2747 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-208.248,0,-116.89:265:106:153:4364:3303 . . . . . . . 0/1:-49.3231,0,-78.9172:106:62:44:1187:1816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 66679819 . G C 785.67 . AB=0.526316;ABP=3.46745;AC=23;AF=0.5;AN=42;AO=40;CIGAR=1X;DP=2864;DPB=76;DPRA=0;EPP=3.22745;EPPR=6.8707;GTI=0;LEN=1;MEANALT=1;MQM=24.125;MQMR=27.1944;NS=1;NUMALT=1;ODDS=68.1405;PAIRED=0.95;PAIREDR=0.944444;PAO=0;PQA=0;PQR=0;PRO=0;QA=1069;QR=1090;RO=36;RPL=27;RPP=13.6505;RPPR=6.8707;RPR=13;RUN=1;SAF=6;SAP=45.5712;SAR=34;SF=0,1;SRF=8;SRP=27.1378;SRR=28;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0361422;avsnp147=rs4483802;Kaviar_AF=0.0581681;Kaviar_AC=1514;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0613;gnomAD_genome_AFR=0.0231;gnomAD_genome_AMR=0.0407;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0784;gnomAD_genome_NFE=0.0861;gnomAD_genome_OTH=0.0746;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-41.0189,0,-48.2231:76:36:40:1069:1090 0/1:-79.7417,0,-69.8517:117:55:61:1722:1650 . . . . 1/1:-200.268,-30.7997,0:149:9:139:3779:198 . 0/1:-25.3063,0,-98.706:99:69:29:821:2035 . . . . . . 0/1:-44.2917,0,-83.731:99:57:42:1119:1631 0/1:-26.8791,0,-55.4664:84:41:35:917:1197 . 1/1:-248.838,-41.2592,0:152:3:149:3883:60 . . 0/1:-82.3615,0,-93.4735:132:63:68:1897:1795 . . . . . . 0/1:-62.1594,0,-125.98:150:83:64:1752:2411 . . . . . . . . 0/1:-80.9678,0,-108.126:150:80:65:1827:2355 . . . . . . . . 0/1:-45.9882,0,-113.142:131:79:51:1389:2404 . . . . . . . . . . . 0/1:-100.508,0,-116.542:160:81:78:2058:2345 . . . . . . . . . 0/1:-88.2424,0,-105.576:149:74:72:1971:2189 0/1:-78.8841,0,-108.987:169:87:81:2008:2490 . . . . . . . 0/1:-95.979,0,-103.138:174:88:83:2273:2640 . . 0/1:-81.7542,0,-73.8667:143:63:77:2004:1882 0/1:-51.5162,0,-50.7064:98:46:51:1324:1161 . . . . 0/1:-51.5604,0,-152.07:166:106:58:1631:2990 . 0/1:-55.9291,0,-56.9052:101:50:48:1353:1458 0/1:-116.824,0,-126.644:191:95:93:2587:2822 . . . . 0/1:-136.81,0,-187.834:174:92:79:2305:2813:92,79 . . . . . . . . . . . . . . . . . . chr15 66729107 . C T 12956.99 . AB=0.486938;ABP=7.26475;AC=4;AF=0.5;AN=8;AO=1398;CIGAR=1X;DP=6289;DPB=2871;DPRA=0;EPP=675.521;EPPR=540.344;GTI=0;LEN=1;MEANALT=3;MQM=38.1545;MQMR=39.2372;NS=1;NUMALT=1;ODDS=5385.51;PAIRED=0.969957;PAIREDR=0.968908;PAO=0;PQA=0;PQR=0;PRO=0;QA=38632;QR=39395;RO=1383;RPL=686;RPP=4.06031;RPPR=4.15492;RPR=712;RUN=1;SAF=538;SAP=164.06;SAR=860;SF=0,1;SRF=557;SRP=116.626;SRR=826;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MAP2K1:NM_002755:exon3:c.C315T:p.P105P;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000399361;avsnp147=rs144166521;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0002;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0033;ExAC_SAS=6.056e-05;CLNALLELEID=53756;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5832;dpsi_zscore=-1.171;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-2434.02,0,-2528.58:2871:1383:1398:38632:39395 . . . . . . . 0/1:-839.65,0,-860.083:1052:507:511:13892:14127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-782.886,0,-822.181:961:469:470:12906:13257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1306.37,0,-1425.83:1405:704:669:20269:21276:704,669 . . . . . . . . . . . . . chr15 66729250 . C T 7312.92 . AB=0.443005;ABP=24.7925;AC=12;AF=0.5;AN=24;AO=342;CIGAR=1X;DP=10918;DPB=772;DPRA=0;EPP=3.11189;EPPR=4.41408;GTI=0;LEN=1;MEANALT=3;MQM=36.6608;MQMR=38.2652;NS=1;NUMALT=1;ODDS=1308.64;PAIRED=0.929825;PAIREDR=0.924242;PAO=0;PQA=0;PQR=0;PRO=0;QA=9719;QR=12056;RO=396;RPL=200;RPP=24.3695;RPPR=4.78696;RPR=142;RUN=1;SAF=165;SAP=3.9246;SAR=177;SF=0,1;SRF=193;SRP=3.55865;SRR=203;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0169;esp6500siv2_ea=0.0236;esp6500siv2_all=0.0169;esp6500siv2_ea=0.0236;1000g2015aug_all=0.0191693;avsnp147=rs16949939;Kaviar_AF=0.0263386;Kaviar_AC=4072;Kaviar_AN=154602;ExAC_ALL=0.0272;ExAC_AFR=0.0041;ExAC_AMR=0.0117;ExAC_EAS=0.0135;ExAC_FIN=0.0166;ExAC_NFE=0.0276;ExAC_OTH=0.0297;ExAC_SAS=0.0623;CLNALLELEID=49219;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6054;dpsi_zscore=1.233;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0252;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0114;gnomAD_exome_ASJ=0.0124;gnomAD_exome_EAS=0.0123;gnomAD_exome_FIN=0.0153;gnomAD_exome_NFE=0.0270;gnomAD_exome_OTH=0.0263;gnomAD_exome_SAS=0.0630;gnomAD_genome_ALL=0.0135;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0068;gnomAD_genome_FIN=0.0138;gnomAD_genome_NFE=0.0203;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-579.063,0,-787.839:772:396:342:9719:12056 . . . 0/1:-614.118,0,-719.811:767:386:354:10102:11766 . . . . . 0/1:-725.382,0,-769.257:822:387:403:11531:12229 . . . . . . . . . . . . . . . . 0/1:-847.285,0,-1005.17:1026:500:486:13837:15592 . . . . . 0/1:-617.052,0,-804.174:813:406:379:10380:12426 . . . 0/1:-635.202,0,-1045.26:903:512:365:10851:15826 . . . . 0/1:-859.931,0,-1034.83:1041:520:485:13924:16211 . . . . . . . . . . 0/1:-942.354,0,-1199.41:1177:601:522:15405:18581 . . . . . . . . . . . . . . . . 0/1:-554.554,0,-551.535:629:279:320:9119:8779 . . . . . . . . . . . 0/1:-811.662,0,-1217.25:1131:600:488:14179:18566 . . . . . . . . . . . . . . . . . . . . . 0/1:-1006.04,0,-1139.12:1069:541:499:15390:17112:541,499 . 0/1:-710.718,0,-879.247:768:395:355:10822:12798:395,355 . chr15 66777345 . G A 4954.13 . AB=0.520548;ABP=5.15203;AC=1;AF=0.5;AN=2;AO=304;CIGAR=1X;DP=584;DPB=584;DPRA=0;EPP=3.0103;EPPR=3.1419;GTI=0;LEN=1;MEANALT=3;MQM=34.8421;MQMR=33.0492;NS=1;NUMALT=1;ODDS=1015.3;PAIRED=0.973684;PAIREDR=0.958333;PAO=0;PQA=0;PQR=0;PRO=0;QA=8647;QR=8393;RO=264;RPL=139;RPP=7.83897;RPPR=3.83283;RPR=165;RUN=1;SAF=169;SAP=11.2676;SAR=135;SF=0;SRF=141;SRP=5.67529;SRR=123;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MAP2K1:NM_002755:exon7:c.G711A:p.G237G;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0207;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0207;1000g2015aug_all=0.00539137;avsnp147=rs17586159;Kaviar_AF=0.0113582;Kaviar_AC=1756;Kaviar_AN=154602;ExAC_ALL=0.0113;ExAC_AFR=0.0032;ExAC_AMR=0.0061;ExAC_EAS=0.0001;ExAC_FIN=0.0064;ExAC_NFE=0.0169;ExAC_OTH=0.0088;ExAC_SAS=0.0055;CLNALLELEID=49224;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0401;dpsi_zscore=0.250;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0116;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0073;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0064;gnomAD_exome_NFE=0.0178;gnomAD_exome_OTH=0.0124;gnomAD_exome_SAS=0.0058;gnomAD_genome_ALL=0.0112;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0174;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-504.826,0,-449.316:584:264:304:8647:8393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 66779573 . A G 10166.60 . AB=0.4678;ABP=13.0791;AC=1;AF=0.5;AN=2;AO=523;CIGAR=1X;DP=1118;DPB=1118;DPRA=0;EPP=61.8061;EPPR=168.688;GTI=0;LEN=1;MEANALT=3;MQM=39.4226;MQMR=39.917;NS=1;NUMALT=1;ODDS=2340.95;PAIRED=0.959847;PAIREDR=0.955017;PAO=0;PQA=0;PQR=0;PRO=0;QA=15874;QR=18401;RO=578;RPL=307;RPP=37.3926;RPPR=51.8346;RPR=216;RUN=1;SAF=291;SAP=17.4633;SAR=232;SF=1;SRF=332;SRP=30.7961;SRR=246;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MAP2K1:NM_002755:exon8:c.A903G:p.G301G;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8240;dpsi_zscore=-1.360;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1036.06,0,-1247.49:1118:578:523:15874:18401:578,523 . . . . . . . chr15 66779698 . C T 8454.50 . AB=0.463149;ABP=17.094;AC=30;AF=0.5;AN=58;AO=553;CIGAR=1X;DP=27810;DPB=1194;DPRA=0;EPP=128.826;EPPR=82.171;GTI=0;LEN=1;MEANALT=3;MQM=37.9964;MQMR=36.8588;NS=1;NUMALT=1;ODDS=2176.8;PAIRED=0.931284;PAIREDR=0.935961;PAO=0;PQA=0;PQR=0;PRO=0;QA=16248;QR=18899;RO=609;RPL=421;RPP=330.973;RPPR=379.631;RPR=132;RUN=1;SAF=179;SAP=152.324;SAR=374;SF=0,1;SRF=204;SRP=147.066;SRR=405;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0947;esp6500siv2_ea=0.0893;esp6500siv2_all=0.0947;esp6500siv2_ea=0.0893;1000g2015aug_all=0.0900559;avsnp147=rs41315964;Kaviar_AF=0.0164746;Kaviar_AC=2547;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0662;dpsi_zscore=0.367;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0941;gnomAD_genome_AFR=0.1064;gnomAD_genome_AMR=0.0550;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0451;gnomAD_genome_FIN=0.1154;gnomAD_genome_NFE=0.0890;gnomAD_genome_OTH=0.1051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1016.42,0,-1184.11:1194:609:553:16248:18899 . 0/1:-561.922,0,-660.569:668:326:319:9102:10304 . . . 0/1:-889.657,0,-965.28:1025:494:502:14437:15298 . . . . . . . . . 0/1:-1968.02,0,-1649.87:1903:841:1022:30560:26399 . 0/1:-578.932,0,-730.181:759:383:351:9783:11522 . . . . . 0/1:-567.138,0,-547.343:640:287:328:9368:8944 . 0/1:-1076.71,0,-852.312:1061:451:570:16713:13968 . . . . . . . . . . . 0/1:-597.652,0,-546.277:648:297:334:9668:8932 . . 0/1:-841.709,0,-832.066:918:435:463:13349:13503 . . . . . . . . 0/1:-715.946,0,-723.694:830:392:413:11682:12013 . 1/1:-2326.05,-248.369,0:1071:25:1005:28814:816 0/1:-494.402,0,-475.851:572:266:286:7994:8182 . . . 0/1:-502.99,0,-764.555:690:376:300:8727:11563 . . . 0/1:-777.86,0,-819.248:842:408:414:12527:12756 . 0/1:-1038.93,0,-1066.78:1157:557:571:16927:17129 . . . 0/1:-647.971,0,-714.184:775:381:381:10765:11783 . . . . . 0/1:-757.972,0,-846.012:852:422:406:11981:13306 . . 0/1:-997.245,0,-1079.18:1154:567:545:16060:17308 . . . . . 0/1:-830.105,0,-866.51:973:470:477:13885:14225 . 0/1:-709.551,0,-691.952:789:365:393:11256:11309 . . . . . . . . 0/1:-858.574,0,-1106.4:1096:569:497:14367:17494 . . 0/1:-917.116,0,-1177.81:1047:552:472:14457:17389:552,472 . . . 0/1:-1048.22,0,-1427.31:1248:667:553:16607:21075:667,553 0/1:-860.641,0,-1066.07:974:499:449:13362:15802:499,449 0/1:-1167.47,0,-993.577:1084:490:577:17546:15322:490,577 0/1:-976.345,0,-928.77:942:450:481:14641:14139:450,481 . . 0/1:-774.335,0,-872.604:821:409:396:11874:13207:409,396 . . 0/1:-1001.05,0,-1207.99:1117:569:517:15606:17914:569,517 0/1:-956.361,0,-952.61:960:460:482:14466:14614:460,482 . . . . chr15 66782048 . C T 13063.01 . AB=0.458079;ABP=30.5016;AC=30;AF=0.5;AN=58;AO=825;CIGAR=1X;DP=40729;DPB=1801;DPRA=0;EPP=72.9422;EPPR=64.3917;GTI=0;LEN=1;MEANALT=3;MQM=38.0788;MQMR=38.6881;NS=1;NUMALT=1;ODDS=3385.57;PAIRED=0.974545;PAIREDR=0.971647;PAO=0;PQA=0;PQR=0;PRO=0;QA=24094;QR=26793;RO=917;RPL=368;RPP=23.8591;RPPR=3.03161;RPR=457;RUN=1;SAF=517;SAP=117.983;SAR=308;SF=0,1;SRF=579;SRP=140.547;SRR=338;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0918;esp6500siv2_ea=0.0854;esp6500siv2_all=0.0918;esp6500siv2_ea=0.0854;1000g2015aug_all=0.0892572;avsnp147=rs41306345;Kaviar_AF=0.0828838;Kaviar_AC=12814;Kaviar_AN=154602;ExAC_ALL=0.0843;ExAC_AFR=0.1084;ExAC_AMR=0.0554;ExAC_EAS=0.0468;ExAC_FIN=0.1234;ExAC_NFE=0.0863;ExAC_OTH=0.1057;ExAC_SAS=0.0845;CLNALLELEID=49230;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.9321;dpsi_zscore=2.833;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0842;gnomAD_exome_AFR=0.1113;gnomAD_exome_AMR=0.0558;gnomAD_exome_ASJ=0.0871;gnomAD_exome_EAS=0.0485;gnomAD_exome_FIN=0.1191;gnomAD_exome_NFE=0.0869;gnomAD_exome_OTH=0.0904;gnomAD_exome_SAS=0.0842;gnomAD_genome_ALL=0.0938;gnomAD_genome_AFR=0.1058;gnomAD_genome_AMR=0.0561;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0451;gnomAD_genome_FIN=0.1154;gnomAD_genome_NFE=0.0887;gnomAD_genome_OTH=0.1041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1500.5,0,-1740.4:1801:917:825:24094:26793 . 0/1:-953.437,0,-853.012:1016:474:510:14838:13551 . . . 0/1:-1507.28,0,-1457.39:1693:809:831:23550:23189 . . . . . . . . . 0/1:-2538.8,0,-2729.2:2962:1447:1404:40220:41858 . 0/1:-880.126,0,-779.313:959:440:488:13839:12601 . . . . . 0/1:-943.117,0,-860.138:1082:496:544:15140:14109 . 0/1:-1273.45,0,-1155.36:1375:648:679:19896:18557 . . . . . . . . . . . 0/1:-838.351,0,-936.77:980:493:456:13164:14292 . . 0/1:-1285.64,0,-1309.3:1485:705:729:20342:20447 . . . . . . . . 0/1:-1052.37,0,-1170.22:1338:650:637:17378:18688 . 1/1:-3496.32,-388.958,0:1543:29:1477:42423:783 0/1:-869.486,0,-858.793:1031:492:489:13863:13796 . . . 0/1:-964.832,0,-922.007:1074:502:531:15275:14798 . . . 0/1:-1166.44,0,-1230.42:1345:666:634:18316:19196 . 0/1:-1432.2,0,-1777.67:1767:910:795:23274:26795 . . . 0/1:-934.338,0,-1022.74:1150:569:542:15239:16220 . . . . . 0/1:-1163.18,0,-1094.76:1258:593:626:17942:17226 . . 0/1:-1472.21,0,-1631.57:1764:860:839:23818:25295 . . . . . 0/1:-1097.64,0,-1232.19:1343:663:627:17742:19026 . 0/1:-1092.37,0,-1080.83:1262:600:612:17299:17214 . . . . . . . . 0/1:-1414.31,0,-1413.08:1650:772:799:22632:22187 . . 0/1:-1395.92,0,-1513.33:1431:727:680:21037:22338:727,680 . . . 0/1:-1654.37,0,-1564.02:1579:762:791:24577:23572:762,791 0/1:-1185.72,0,-1361.46:1249:648:572:18025:19980:648,572 0/1:-1492.06,0,-1354.62:1380:655:707:22004:20457:655,707 0/1:-1223.29,0,-1254.71:1222:605:595:18365:18669:605,595 . . 0/1:-1145.32,0,-1176.81:1119:562:545:17142:17468:562,545 . . 0/1:-1452.9,0,-1444.44:1422:710:683:21617:21690:710,683 0/1:-1347.22,0,-1627.23:1449:771:646:20526:23765:771,646 . . . . chr15 66782108 . CTATTTATTC CTATTC 5879.01 . AB=0.431373;ABP=48.9093;AC=1;AF=0.5;AN=2;AO=484;CIGAR=1M4D5M;DP=1122;DPB=921.7;DPRA=0;EPP=63.3808;EPPR=30.0614;GTI=0;LEN=4;MEANALT=39;MQM=37.9132;MQMR=41.1374;NS=1;NUMALT=1;ODDS=1353.69;PAIRED=0.975207;PAIREDR=0.980108;PAO=9;PQA=258;PQR=340;PRO=12;QA=10758;QR=17390;RO=553;RPL=345;RPP=193.4;RPPR=117.831;RPR=139;RUN=1;SAF=223;SAP=9.48883;SAR=261;SF=1;SRF=209;SRP=74.5746;SRR=344;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0029;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0029;1000g2015aug_all=0.00119808;avsnp147=rs397516788;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0005;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0032;ExAC_OTH=0.0044;ExAC_SAS=0;CLNALLELEID=53753;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0060;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0031;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-622.696,0,-1212.66:1122:553:484:10758:17390:553,484 . . . . . . . . . chr15 73614834 . T C 10753.67 . AB=0;ABP=0;AC=215;AF=1;AN=228;AO=432;CIGAR=1X;DP=59210;DPB=444;DPRA=0;EPP=6.95112;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=32.1319;MQMR=11.3333;NS=1;NUMALT=1;ODDS=586.816;PAIRED=0.891204;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=12516;QR=71;RO=3;RPL=272;RPP=66.0634;RPPR=9.52472;RPR=160;RUN=1;SAF=220;SAP=3.332;SAR=212;SF=0,1;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A3600G:p.P1200P;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.8752;esp6500siv2_ea=0.9344;esp6500siv2_all=0.8752;esp6500siv2_ea=0.9344;1000g2015aug_all=0.859625;avsnp147=rs529004;Kaviar_AF=0.88158;Kaviar_AC=136294;Kaviar_AN=154602;ExAC_ALL=0.9026;ExAC_AFR=0.7677;ExAC_AMR=0.9643;ExAC_EAS=0.8841;ExAC_FIN=0.9437;ExAC_NFE=0.9274;ExAC_OTH=0.8891;ExAC_SAS=0.8458;CLNALLELEID=101184;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9077;gnomAD_exome_AFR=0.7486;gnomAD_exome_AMR=0.9606;gnomAD_exome_ASJ=0.8803;gnomAD_exome_EAS=0.8836;gnomAD_exome_FIN=0.9334;gnomAD_exome_NFE=0.9315;gnomAD_exome_OTH=0.9236;gnomAD_exome_SAS=0.8405;gnomAD_genome_ALL=0.8876;gnomAD_genome_AFR=0.7704;gnomAD_genome_AMR=0.9463;gnomAD_genome_ASJ=0.8833;gnomAD_genome_EAS=0.8809;gnomAD_genome_FIN=0.9390;gnomAD_genome_NFE=0.9391;gnomAD_genome_OTH=0.9213;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-941.627,-127.981,0:444:3:432:12516:71 1/1:-1340.19,-180.618,0:604:0:600:17802:0 0/1:-372.003,0,-455.934:516:258:243:7121:7762 1/1:-761.797,-103.593,0:354:1:344:10260:36 1/1:-1087.62,-144.025,0:497:1:488:14860:36 1/1:-1205.79,-159.304,0:538:1:529:16372:14 1/1:-1009.63,-129.092,0:455:2:448:13517:72 1/1:-1228.34,-159.225,0:568:4:553:16421:96 1/1:-984.144,-129.443,0:435:0:430:13099:0 1/1:-1210.93,-159.647,0:561:3:550:16293:77 0/1:-414.036,0,-456.79:526:269:244:7464:8182 1/1:-1053.63,-139.724,0:475:1:470:14220:32 1/1:-901.007,-128.478,0:436:1:433:12690:36 1/1:-799.145,-114.993,0:389:0:382:11217:0 0/1:-322.065,0,-358.586:430:215:203:5845:6293 1/1:-1564.15,-205.302,0:701:0:682:20458:0 1/1:-887.666,-122.703,0:417:1:409:12128:36 1/1:-2023.77,-259.913,0:911:5:888:26680:105 1/1:-1227.11,-158.944,0:537:0:528:16146:0 1/1:-760.676,-104.097,0:359:1:349:10272:14 1/1:-743.101,-95.1255,0:324:0:316:9372:0 1/1:-1365.84,-169.169,0:594:3:587:17680:104 1/1:-670.306,-93.3193,0:316:0:310:9144:0 1/1:-1198.89,-154.388,0:538:2:531:16283:68 1/1:-1157.42,-152.286,0:530:3:516:15724:73 1/1:-787.721,-112.876,0:388:1:378:10921:14 1/1:-940.645,-122.326,0:427:2:419:12524:50 1/1:-1076.87,-142.688,0:476:0:474:14181:0 1/1:-770.374,-108.909,0:386:3:378:10915:77 1/1:-1013.52,-131.851,0:449:0:438:13083:0 1/1:-1025.43,-136.969,0:463:0:455:13825:0 1/1:-1296.38,-172.923,0:596:2:579:17353:50 1/1:-1123.19,-152.321,0:517:0:506:15043:0 1/1:-1014.09,-139.006,0:492:3:474:14409:64 1/1:-1162.58,-152.263,0:522:1:509:15188:14 1/1:-1232.13,-170.383,0:577:0:566:16866:0 1/1:-1379.06,-189.649,0:639:0:630:18697:0 1/1:-1164.28,-147.695,0:500:1:492:15300:27 1/1:-1112.76,-152.51,0:524:2:513:15252:28 1/1:-678.893,-91.3498,0:324:1:313:9152:36 1/1:-1235.76,-159.268,0:550:2:540:16380:72 1/1:-1021.81,-136.245,0:469:1:462:13696:36 1/1:-1139.23,-151.849,0:522:1:514:15465:36 1/1:-1031.19,-135.041,0:475:3:462:13836:55 1/1:-1397.46,-180.449,0:618:1:609:18475:36 1/1:-1195.13,-169.328,0:578:3:570:16281:55 1/1:-1114.16,-144.937,0:503:1:491:14904:36 1/1:-586.884,-72.6364,0:254:1:251:7761:36 1/1:-1060.32,-139.979,0:472:0:465:14181:0 1/1:-1330.63,-177.909,0:602:0:591:17456:0 0/1:-499.957,0,-493.442:590:288:287:8589:8417 1/1:-1021.07,-138.474,0:467:0:460:13687:0 1/1:-1397.58,-182.725,0:612:0:607:18154:0 0/1:-507.796,0,-473.125:609:292:302:9026:8744 1/1:-674.154,-93.254,0:344:4:331:9385:85 1/1:-895.264,-116.499,0:391:0:387:11858:0 0/1:-417.154,0,-492.401:569:291:261:7589:8540 1/1:-656.981,-90.309,0:308:0:300:8824:0 1/1:-768.467,-104.457,0:358:0:347:10471:0 1/1:-1057.87,-140.152,0:486:1:474:14273:32 1/1:-662.388,-96.9317,0:326:0:322:9239:0 1/1:-1417.64,-189.95,0:639:0:631:19039:0 1/1:-949.231,-126.076,0:436:1:422:12732:14 1/1:-649.891,-93.8818,0:323:1:313:9239:14 1/1:-1379.91,-175.802,0:597:0:584:17583:0 1/1:-1330.16,-163.459,0:554:0:543:16689:0 . 1/1:-1130,-149.612,0:506:0:497:14544:0 0/1:-304.044,0,-346.72:438:222:208:6004:6523 1/1:-1081.17,-145.66,0:497:1:485:14620:14 1/1:-1011.07,-140.28,0:476:0:466:13593:0 1/1:-1478.91,-188.889,0:652:1:637:19194:36 1/1:-1404.36,-183.026,0:627:0:608:18121:0 1/1:-586.147,-87.8345,0:299:1:295:8334:14 1/1:-862.383,-112.662,0:385:1:383:11391:32 0/1:-472.56,0,-483.99:616:302:301:8863:8497 1/1:-1182.11,-160.148,0:548:0:532:15919:0 0/1:-528.985,0,-565.175:669:332:325:9676:9815 1/1:-642.861,-89.1049,0:302:0:296:8709:0 1/1:-686.977,-90.9111,0:310:0:302:8972:0 1/1:-1178.15,-157.439,0:536:0:523:15500:0 1/1:-1232.75,-165.302,0:562:1:549:16521:36 1/1:-1041.96,-141.531,0:489:1:476:14417:36 1/1:-1067.63,-141.614,0:487:1:480:14387:36 1/1:-888.74,-121.395,0:427:2:416:12087:50 1/1:-997.341,-123.223,0:473:7:458:13586:213 1/1:-895.767,-122.163,0:413:1:409:12000:14 1/1:-1072.74,-145.608,0:508:3:494:14596:64 0/1:-273.798,0,-315.387:350:182:162:4863:5359 1/1:-1116.13,-140.907,0:504:3:493:14895:108 1/1:-1671.85,-220.709,0:744:1:733:21950:14 1/1:-896.132,-119.586,0:410:1:407:12505:36 0/1:-447.14,0,-701.385:716:394:298:8882:11599 1/1:-1224.55,-157.799,0:550:3:538:16233:77 1/1:-1176.58,-159.245,0:543:0:529:15742:0 . 1/1:-1485.57,-166.771,0:558:0:554:17680:0:0,554 1/1:-1881.09,-195.38,0:699:4:686:22213:140:4,686 0/1:-840.264,0,-652.795:759:344:398:12680:10260:344,398 1/1:-1090.77,-119.896,0:417:2:410:13016:46:2,410 1/1:-1566.62,-176.048,0:602:1:588:18718:14:1,588 1/1:-2075.88,-232.235,0:793:1:781:24689:36:1,781 1/1:-1668.46,-192.659,0:647:0:640:19847:0:0,640 1/1:-2014.21,-225.471,0:759:0:749:24116:0:0,749 1/1:-1603.6,-178.884,0:613:2:607:19292:50:2,607 1/1:-1506.03,-170.985,0:575:0:568:17937:0:0,568 1/1:-1989.87,-222.762,0:748:0:740:23485:0:0,740 1/1:-1478.47,-166.169,0:562:0:552:17379:0:0,552 1/1:-1562.66,-178.21,0:597:0:592:18734:0:0,592 1/1:-1609.07,-180.618,0:610:0:600:19015:0:0,600 0/1:-569.063,0,-745.937:660:349:295:9177:11014:349,295 1/1:-1701.95,-190.356,0:646:1:642:20396:36:1,642 1/1:-1922.71,-215.537,0:724:0:716:22703:0:0,716 1/1:-1713.84,-189.336,0:661:4:646:20280:78:4,646 1/1:-1445.72,-159.391,0:552:1:539:17279:36:1,539 1/1:-1610.91,-177.384,0:604:1:595:19044:32:1,595 chr15 73615097 . T C 2366.39 . AB=0.457227;ABP=8.39735;AC=4;AF=0.5;AN=8;AO=155;CIGAR=1X;DP=1708;DPB=339;DPRA=0;EPP=3.02431;EPPR=6.81367;GTI=0;LEN=1;MEANALT=3;MQM=26.129;MQMR=27.4545;NS=1;NUMALT=1;ODDS=387.262;PAIRED=0.780645;PAIREDR=0.781818;PAO=0;PQA=0;PQR=0;PRO=0;QA=4238;QR=4188;RO=165;RPL=72;RPP=4.70545;RPPR=3.02346;RPR=83;RUN=1;SAF=48;SAP=51.7774;SAR=107;SF=0;SRF=60;SRP=29.6602;SRR=105;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A3337G:p.M1113V;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0126;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0126;1000g2015aug_all=0.0081869;avsnp147=rs142735148;Kaviar_AF=0.008247;Kaviar_AC=1275;Kaviar_AN=154602;ExAC_ALL=0.0248;ExAC_AFR=0.0115;ExAC_AMR=0.0322;ExAC_EAS=0;ExAC_FIN=0.0110;ExAC_NFE=0.03;ExAC_OTH=0.0270;ExAC_SAS=0.0278;CLNALLELEID=141246;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-1.1;MutationAssessor_pred=N;FATHMM_score=-4.08;FATHMM_pred=D;PROVEAN_score=-0.02;PROVEAN_pred=N;VEST3_score=0.038;CADD_raw=-3.599;CADD_phred=0.001;DANN_score=0.364;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.310;MetaSVM_pred=T;MetaLR_score=0.417;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-5.11;phyloP7way_vertebrate=-0.594;phyloP20way_mammalian=-0.729;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.762;SiPhy_29way_logOdds=10.555;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1111868#"Bradycardia_postpartum";gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0082;gnomAD_exome_AMR=0.0081;gnomAD_exome_ASJ=0.0158;gnomAD_exome_EAS=8.296e-05;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0145;gnomAD_exome_OTH=0.0129;gnomAD_exome_SAS=0.0212;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0120;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . 0/1:-180.324,0,-181.81:339:165:155:4238:4188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-259.054,0,-269.556:474:208:229:6234:5651 . . 0/1:-279.855,0,-238.733:460:205:229:6232:5572 . . . . . . . . . . . 0/1:-282.397,0,-209.387:435:189:217:6121:5096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73615205 . C T 2175.81 . AB=0.412781;ABP=41.268;AC=1;AF=0.5;AN=2;AO=239;CIGAR=1X;DP=579;DPB=579;DPRA=0;EPP=9.63375;EPPR=3.49965;GTI=0;LEN=1;MEANALT=3;MQM=27.2845;MQMR=28.0493;NS=1;NUMALT=1;ODDS=500.998;PAIRED=0.23431;PAIREDR=0.288732;PAO=0;PQA=0;PQR=0;PRO=0;QA=5987;QR=7970;RO=284;RPL=186;RPP=163.727;RPPR=144.431;RPR=53;RUN=1;SAF=184;SAP=154.205;SAR=55;SF=0;SRF=208;SRP=136.235;SRR=76;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.G3229A:p.G1077S;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs746291340;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=4.992e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.7e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.493;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.874;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-5.46;FATHMM_pred=D;PROVEAN_score=-0.66;PROVEAN_pred=N;VEST3_score=0.309;CADD_raw=4.641;CADD_phred=24.5;DANN_score=0.997;fathmm-MKL_coding_score=0.516;fathmm-MKL_coding_pred=D;MetaSVM_score=0.883;MetaSVM_pred=D;MetaLR_score=0.851;MetaLR_pred=D;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=2.84;phyloP7way_vertebrate=0.772;phyloP20way_mammalian=0.742;phastCons7way_vertebrate=0.621;phastCons20way_mammalian=0.957;SiPhy_29way_logOdds=8.297;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.261e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.372e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-259.229,0,-382.748:579:284:239:5987:7970 . . . . . . . . . . . . . . . . . . . . . chr15 73615298 . A C 21.65 . AB=0.333333;ABP=5.9056;AC=1;AF=0.5;AN=2;AO=4;CIGAR=1X;DP=12;DPB=12;DPRA=0;EPP=11.6962;EPPR=18.2106;GTI=0;LEN=1;MEANALT=2;MQM=36.25;MQMR=15.8571;NS=1;NUMALT=1;ODDS=4.97769;PAIRED=0;PAIREDR=0.285714;PAO=0;PQA=0;PQR=0;PRO=0;QA=56;QR=124;RO=7;RPL=4;RPP=11.6962;RPPR=18.2106;RPR=0;RUN=1;SAF=4;SAP=11.6962;SAR=0;SF=0;SRF=7;SRP=18.2106;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.T3136G:p.S1046A;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.354;SIFT_pred=T;Polyphen2_HDIV_score=0.231;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.074;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-4.4;FATHMM_pred=D;PROVEAN_score=-0.29;PROVEAN_pred=N;VEST3_score=0.154;CADD_raw=2.959;CADD_phred=22.1;DANN_score=0.985;fathmm-MKL_coding_score=0.455;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.019;MetaSVM_pred=T;MetaLR_score=0.725;MetaLR_pred=D;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=3.17;phyloP7way_vertebrate=0.936;phyloP20way_mammalian=0.942;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=7.497;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1.68451,0,-2.23199:12:7:4:56:124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73615311 . GGCA GTCT 21.14 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1M1X1M1X;DP=4;DPB=5.5;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=4;MEANALT=3;MQM=24;MQMR=0;NS=1;NUMALT=1;ODDS=2.93671;PAIRED=0;PAIREDR=0;PAO=1;PQA=19;PQR=28.6667;PRO=1.33333;QA=35;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=0;SRF=0;SRP=0;SRR=0;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=HCN4:NM_005477:exon8:c.3120_3122AGA;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 1/1:-3.88668,-7.25197,0:4:0:2:35:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73615314 . A C,G 32.68 . AB=0;ABP=0;AC=2,2;AF=1;AN=4;AO=6;CIGAR=1X;DP=27;DPB=14;DPRA=0;EPP=16.0391;EPPR=3.44459;GTI=0;LEN=1;MEANALT=3;MQM=32.1667;MQMR=5;NS=1;NUMALT=1;ODDS=4.72976;PAIRED=0.166667;PAIREDR=0.4;PAO=0;PQA=0;PQR=0;PRO=0;QA=84;QR=114;RO=5;RPL=6;RPP=16.0391;RPPR=6.91895;RPR=0;RUN=1;SAF=6;SAP=16.0391;SAR=0;SF=0;SRF=4;SRP=6.91895;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.T3120G:p.S1040R;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.021;SIFT_pred=D;Polyphen2_HDIV_score=0.553;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.146;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.515;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-4.49;FATHMM_pred=D;PROVEAN_score=-1.08;PROVEAN_pred=N;VEST3_score=0.382;CADD_raw=2.795;CADD_phred=21.3;DANN_score=0.988;fathmm-MKL_coding_score=0.800;fathmm-MKL_coding_pred=D;MetaSVM_score=0.428;MetaSVM_pred=D;MetaLR_score=0.773;MetaLR_pred=D;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=0.722;phyloP7way_vertebrate=0.032;phyloP20way_mammalian=0.062;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=8.073;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.T3120C:p.S1040S;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2/2:-5.35514,.,.,-1.19966,.,0:14:5:.,6:.,84:114 . . . . . . 1/1:-3.02815,-1.10392,0,.,.,.:13:5:6,.:84,.:180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73615322 . A T 20.23 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=7.35324;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=24;MQMR=3;NS=1;NUMALT=1;ODDS=4.64821;PAIRED=0.5;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=38;QR=36;RO=1;RPL=2;RPP=7.35324;RPPR=5.18177;RPR=0;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=0;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.T3112A:p.F1038I;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.851;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.221;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.931;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=-5.05;FATHMM_pred=D;PROVEAN_score=-0.32;PROVEAN_pred=N;VEST3_score=0.393;CADD_raw=5.117;CADD_phred=25.4;DANN_score=0.978;fathmm-MKL_coding_score=0.918;fathmm-MKL_coding_pred=D;MetaSVM_score=0.755;MetaSVM_pred=D;MetaLR_score=0.863;MetaLR_pred=D;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=3.17;phyloP7way_vertebrate=0.936;phyloP20way_mammalian=0.942;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=6.772;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 1/1:-2.92178,-0.686202,0:4:1:2:38:36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73615634 . G A 1488.36 . AB=0.423077;ABP=33.745;AC=1;AF=0.5;AN=2;AO=253;CIGAR=1X;DP=598;DPB=598;DPRA=0;EPP=8.37461;EPPR=4.81516;GTI=0;LEN=1;MEANALT=3;MQM=21.8458;MQMR=22.6071;NS=1;NUMALT=1;ODDS=342.709;PAIRED=0.806324;PAIREDR=0.779221;PAO=0;PQA=0;PQR=0;PRO=0;QA=6357;QR=9222;RO=308;RPL=68;RPP=120.502;RPPR=153.293;RPR=185;RUN=1;SAF=195;SAP=164.103;SAR=58;SF=0;SRF=219;SRP=122.159;SRR=89;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2800T:p.R934C;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=8.8e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.8e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000798722;avsnp147=rs199638465;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0028;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.21e-05;ExAC_OTH=0;ExAC_SAS=0.0015;CLNALLELEID=188628;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.586;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.680;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-4.5;FATHMM_pred=D;PROVEAN_score=-1.38;PROVEAN_pred=N;VEST3_score=0.362;CADD_raw=4.639;CADD_phred=24.5;DANN_score=0.996;fathmm-MKL_coding_score=0.874;fathmm-MKL_coding_pred=D;MetaSVM_score=0.907;MetaSVM_pred=D;MetaLR_score=0.857;MetaLR_pred=D;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=2.93;phyloP7way_vertebrate=0.809;phyloP20way_mammalian=0.749;phastCons7way_vertebrate=0.897;phastCons20way_mammalian=0.964;SiPhy_29way_logOdds=9.294;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.88e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.696e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-187.003,0,-341.075:598:308:253:6357:9222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73615786 . G C 7612.84 . AB=0.52151;ABP=7.58774;AC=1;AF=0.5;AN=2;AO=594;CIGAR=1X;DP=1139;DPB=1139;DPRA=0;EPP=55.6521;EPPR=123.496;GTI=0;LEN=1;MEANALT=3;MQM=28.8855;MQMR=21.8216;NS=1;NUMALT=1;ODDS=1135.74;PAIRED=0.878788;PAIREDR=0.810247;PAO=0;PQA=0;PQR=0;PRO=0;QA=15759;QR=15133;RO=527;RPL=349;RPP=42.5501;RPPR=12.1124;RPR=245;RUN=1;SAF=286;SAP=4.77965;SAR=308;SF=0;SRF=291;SRP=15.4746;SRR=236;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2648G:p.P883R;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0132;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0132;1000g2015aug_all=0.00339457;avsnp147=rs148398509;Kaviar_AF=0.0077554;Kaviar_AC=1199;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0036;ExAC_AMR=0.0110;ExAC_EAS=0;ExAC_FIN=0.0079;ExAC_NFE=0.0118;ExAC_OTH=0.0202;ExAC_SAS=0.0028;CLNALLELEID=141245;CLNDN=Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-1.1;FATHMM_pred=T;PROVEAN_score=-0.76;PROVEAN_pred=N;VEST3_score=0.096;CADD_raw=0.186;CADD_phred=4.529;DANN_score=0.825;fathmm-MKL_coding_score=0.381;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.973;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.6;phyloP7way_vertebrate=0.830;phyloP20way_mammalian=0.751;phastCons7way_vertebrate=0.934;phastCons20way_mammalian=0.905;SiPhy_29way_logOdds=8.988;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM148483#"Sinus_bradycardia_&_myocardial_noncompaction";gnomAD_exome_ALL=0.0077;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0072;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=5.884e-05;gnomAD_exome_FIN=0.0081;gnomAD_exome_NFE=0.0115;gnomAD_exome_OTH=0.0120;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0126;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-779.668,0,-516.517:1139:527:594:15759:15133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73615788 . T G 165.06 . AB=0.341085;ABP=172.789;AC=31;AF=0.5;AN=62;AO=264;CIGAR=1X;DP=31610;DPB=774;DPRA=0;EPP=281.485;EPPR=39.2213;GTI=0;LEN=1;MEANALT=3;MQM=19.7045;MQMR=22.4105;NS=1;NUMALT=1;ODDS=41.7057;PAIRED=0.844697;PAIREDR=0.757895;PAO=0;PQA=0;PQR=0;PRO=0;QA=4580;QR=10584;RO=475;RPL=140;RPP=5.11597;RPPR=53.4113;RPR=124;RUN=1;SAF=108;SAP=21.9613;SAR=156;SF=0;SRF=341;SRP=198.895;SRR=134;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A2646C:p.P882P;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-71.4911,0,-439.341:774:475:264:4580:10584 . . . . . 0/1:-90.3835,0,-473.609:851:517:301:5399:10973 . . 0/1:-114.33,0,-856.313:1445:887:500:8628:19349 . 0/1:-171.834,0,-1251.24:2059:1289:679:12105:28505 . . 0/1:-60.456,0,-436.475:719:457:239:4271:9757 . . 0/1:-104.441,0,-695.368:1186:730:405:6948:15888 . . 0/1:-144.235,0,-603.259:1146:662:428:7591:14423 0/1:-82.8744,0,-563.175:929:573:314:5311:12248 . . . . 0/1:-97.513,0,-623.253:1021:626:352:6226:13585 0/1:-102.683,0,-659.097:1057:655:355:6112:14298 . 0/1:-114.283,0,-595.57:1135:698:392:6963:14878 0/1:-111.452,0,-772.732:1219:758:411:7153:16711 . . 0/1:-86.6899,0,-456.613:767:464:269:4744:10334 . 0/1:-73.6411,0,-560.537:951:587:326:5623:12835 . 0/1:-83.4321,0,-516.745:887:544:301:5418:12063 . . . 0/1:-63.3387,0,-314.019:599:352:220:3917:7405 . . . . . . . 0/1:-70.7282,0,-466.102:796:504:256:4539:11050 . . . 0/1:-107.552,0,-668.77:1069:657:379:6714:14584 . . 0/1:-93.6534,0,-549.684:888:553:297:5161:12391 . . . . . . . 0/1:-128.358,0,-480.211:927:538:344:6399:11735 0/1:-113.699,0,-788.817:1291:797:433:7545:17756 0/1:-104.292,0,-650.239:1165:716:397:6912:15649 . . 0/1:-121.055,0,-712.272:1233:762:430:7503:16593 0/1:-91.3885,0,-633.893:1088:677:362:6381:14589 . 0/1:-76.0829,0,-339.808:659:390:234:4094:8339 . 0/1:-92.5169,0,-572.529:1037:619:373:6509:13762 . . 0/1:-72.6838,0,-542.81:907:569:303:5305:12681 . . 0/1:-59.1482,0,-416.313:679:430:222:3871:9607 0/1:-86.1164,0,-583.713:997:625:337:5932:13683 . . . 0/1:-98.4666,0,-532.93:923:563:314:5643:12219 0/1:-114.307,0,-716.581:1206:733:417:7424:16036 . . . . . . . . . . . . . . . . . . . . . . . chr15 73615878 . C T 4699.07 . AB=0.440783;ABP=32.5857;AC=16;AF=0.5;AN=32;AO=428;CIGAR=1X;DP=14433;DPB=971;DPRA=0;EPP=81.021;EPPR=42.9934;GTI=0;LEN=1;MEANALT=3;MQM=26.535;MQMR=27.8708;NS=1;NUMALT=1;ODDS=987.256;PAIRED=0.873832;PAIREDR=0.880626;PAO=0;PQA=0;PQR=0;PRO=0;QA=11003;QR=16025;RO=511;RPL=242;RPP=18.9209;RPPR=5.25826;RPR=186;RUN=1;SAF=200;SAP=6.98795;SAR=228;SF=0,1;SRF=211;SRP=36.6702;SRR=300;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.G2556A:p.P852P;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0362;esp6500siv2_ea=0.0488;esp6500siv2_all=0.0362;esp6500siv2_ea=0.0488;1000g2015aug_all=0.0275559;avsnp147=rs117819825;Kaviar_AF=0.0447148;Kaviar_AC=6913;Kaviar_AN=154602;ExAC_ALL=0.0457;ExAC_AFR=0.0123;ExAC_AMR=0.1086;ExAC_EAS=0;ExAC_FIN=0.0215;ExAC_NFE=0.0484;ExAC_OTH=0.0456;ExAC_SAS=0.0442;CLNALLELEID=101183;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0488;gnomAD_exome_AFR=0.0105;gnomAD_exome_AMR=0.1076;gnomAD_exome_ASJ=0.0213;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0224;gnomAD_exome_NFE=0.0497;gnomAD_exome_OTH=0.0589;gnomAD_exome_SAS=0.0455;gnomAD_genome_ALL=0.0336;gnomAD_genome_AFR=0.0123;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0241;gnomAD_genome_NFE=0.0476;gnomAD_genome_OTH=0.0481;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-448.064,0,-765.987:971:511:428:11003:16025 . 0/1:-389.787,0,-621.146:839:424:368:9606:13039 . . . . . . . . . . 0/1:-278.407,0,-501.698:665:358:281:7257:11081 0/1:-351.928,0,-525.063:746:384:329:8596:12009 . . . . 0/1:-298.79,0,-386.558:606:306:269:7132:9106 . 0/1:-320.455,0,-784.615:876:504:329:8479:15881 . 0/1:-656.264,0,-798.157:1193:595:539:14642:18584 . . . 0/1:-361.284,0,-690.67:884:471:356:9199:14784 . . 0/1:-712.88,0,-961.196:1326:671:597:15894:20924 0/1:-511.582,0,-749.94:1054:544:460:12168:16703 0/1:-242.117,0,-398.513:620:317:266:6783:9209 . . . . . . . . . . . . 0/1:-428.454,0,-534.509:775:380:369:9650:11612 . 0/1:-276.578,0,-466.841:622:325:261:6672:10098 . . . . 0/1:-421.679,0,-863.221:1035:577:427:11141:17881 . . . . . 0/1:-559.84,0,-876.441:812:448:346:9790:13915:448,346 . 0/1:-1192.98,0,-1378.4:1409:689:694:19764:22282:689,694 . . . . . . . . . . . . . . chr15 73616548 . G A 9123.33 . AB=0.43796;ABP=62.0165;AC=1;AF=0.5;AN=2;AO=773;CIGAR=1X;DP=1765;DPB=1765;DPRA=0;EPP=68.7697;EPPR=111.338;GTI=0;LEN=1;MEANALT=3;MQM=29.9379;MQMR=31.7636;NS=1;NUMALT=1;ODDS=2100.72;PAIRED=0.767141;PAIREDR=0.788462;PAO=0;PQA=0;PQR=0;PRO=0;QA=19907;QR=26315;RO=884;RPL=369;RPP=6.45151;RPPR=4.19921;RPR=404;RUN=1;SAF=351;SAP=17.1712;SAR=422;SF=0;SRF=430;SRP=4.4252;SRR=454;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon7:c.C2025T:p.A675A;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs149033101;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=490836;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0934;dpsi_zscore=-0.429;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=6.468e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-930.653,0,-1447.25:1765:884:773:19907:26315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73617315 . G A 2768.57 . AB=0.414062;ABP=44.0647;AC=1;AF=0.5;AN=2;AO=265;CIGAR=1X;DP=640;DPB=640;DPRA=0;EPP=5.96842;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=30.1132;MQMR=32.1871;NS=1;NUMALT=1;ODDS=637.486;PAIRED=0.890566;PAIREDR=0.935673;PAO=0;PQA=0;PQR=0;PRO=0;QA=6634;QR=10257;RO=342;RPL=60;RPP=175.294;RPPR=117.019;RPR=205;RUN=1;SAF=174;SAP=59.4604;SAR=91;SF=0;SRF=221;SRP=66.5036;SRR=121;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon6:c.C1959T:p.A653A;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs371293769;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.651e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=529040;CLNDN=Brugada_syndrome_8;CLNDISDB=MedGen:C2751083,OMIM:613123;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0047;dpsi_zscore=0.033;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.15e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.019e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-310.548,0,-573.857:640:342:265:6634:10257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73617403 . C T 15511.20 . AB=0.489734;ABP=4.52613;AC=1;AF=0.5;AN=2;AO=811;CIGAR=1X;DP=1656;DPB=1656;DPRA=0;EPP=9.97454;EPPR=5.43502;GTI=0;LEN=1;MEANALT=3;MQM=38.2774;MQMR=39.5397;NS=1;NUMALT=1;ODDS=3571.59;PAIRED=0.964242;PAIREDR=0.96402;PAO=0;PQA=0;PQR=0;PRO=0;QA=24450;QR=25176;RO=806;RPL=408;RPP=3.07724;RPPR=8.22614;RPR=403;RUN=1;SAF=431;SAP=9.97454;SAR=380;SF=1;SRF=465;SRP=44.4353;SRR=341;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon6:c.G1871A:p.R624Q;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs763842368;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.647e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.205;MutationAssessor_pred=L;FATHMM_score=-3.17;FATHMM_pred=D;PROVEAN_score=-3.51;PROVEAN_pred=D;VEST3_score=0.592;CADD_raw=4.896;CADD_phred=24.9;DANN_score=0.999;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_pred=D;MetaSVM_score=0.816;MetaSVM_pred=D;MetaLR_score=0.826;MetaLR_pred=D;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=3.65;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.964;SiPhy_29way_logOdds=15.540;GDI_full_10282015=.;dpsi_max_tissue=-0.0953;dpsi_zscore=-0.435;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.624e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.79e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1560.88,0,-1664.4:1656:806:811:24450:25176:806,811 . . . . . . . . . . . . . . . . . . chr15 73617804 . G T 4049.62 . AB=0.414251;ABP=55.8914;AC=1;AF=0.5;AN=2;AO=343;CIGAR=1X;DP=828;DPB=828;DPRA=0;EPP=5.80219;EPPR=3.7114;GTI=0;LEN=1;MEANALT=3;MQM=31.2391;MQMR=33.2758;NS=1;NUMALT=1;ODDS=932.461;PAIRED=0.909621;PAIREDR=0.901345;PAO=0;PQA=0;PQR=0;PRO=0;QA=8752;QR=12653;RO=446;RPL=165;RPP=4.08021;RPPR=22.9528;RPR=178;RUN=1;SAF=185;SAP=7.62547;SAR=158;SF=0;SRF=196;SRP=17.2076;SRR=250;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0145;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0145;1000g2015aug_all=0.00339457;avsnp147=rs41279186;Kaviar_AF=0.0071539;Kaviar_AC=1106;Kaviar_AN=154602;ExAC_ALL=0.0068;ExAC_AFR=0.0026;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0.0057;ExAC_NFE=0.0099;ExAC_OTH=0.0122;ExAC_SAS=0.0020;CLNALLELEID=141243;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0294;dpsi_zscore=-0.161;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0071;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.0051;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0074;gnomAD_exome_NFE=0.0111;gnomAD_exome_OTH=0.0082;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0124;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-416.378,0,-730.112:828:446:343:8752:12653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73621946 . G A 5381.62 . AB=0.430686;ABP=34.0159;AC=14;AF=0.5;AN=28;AO=320;CIGAR=1X;DP=12553;DPB=743;DPRA=0;EPP=3.03744;EPPR=26.1198;GTI=0;LEN=1;MEANALT=3;MQM=30.8906;MQMR=33.4584;NS=1;NUMALT=1;ODDS=865.559;PAIRED=0.928125;PAIREDR=0.919395;PAO=0;PQA=0;PQR=0;PRO=0;QA=8318;QR=12105;RO=397;RPL=115;RPP=57.9757;RPPR=80.4668;RPR=205;RUN=1;SAF=206;SAP=60.4457;SAR=114;SF=0,1;SRF=255;SRP=72.8529;SRR=142;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.C1558T:p.L520L;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0740;esp6500siv2_ea=0.0910;esp6500siv2_all=0.0740;esp6500siv2_ea=0.0910;1000g2015aug_all=0.053115;avsnp147=rs12909882;Kaviar_AF=0.0839058;Kaviar_AC=12972;Kaviar_AN=154602;ExAC_ALL=0.0856;ExAC_AFR=0.0433;ExAC_AMR=0.0850;ExAC_EAS=0.0015;ExAC_FIN=0.1328;ExAC_NFE=0.0937;ExAC_OTH=0.0949;ExAC_SAS=0.1048;CLNALLELEID=141242;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2149;dpsi_zscore=0.751;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0877;gnomAD_exome_AFR=0.0429;gnomAD_exome_AMR=0.0842;gnomAD_exome_ASJ=0.0744;gnomAD_exome_EAS=0.0023;gnomAD_exome_FIN=0.1320;gnomAD_exome_NFE=0.0957;gnomAD_exome_OTH=0.0766;gnomAD_exome_SAS=0.1067;gnomAD_genome_ALL=0.0857;gnomAD_genome_AFR=0.0451;gnomAD_genome_AMR=0.0656;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.1347;gnomAD_genome_NFE=0.1067;gnomAD_genome_OTH=0.1079;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-396.646,0,-710.747:743:397:320:8318:12105 . . . 0/1:-583.473,0,-860.72:980:489:452:11417:15299 . 0/1:-448.15,0,-727.004:812:430:348:8977:12941 . . . . 0/1:-521.365,0,-713.852:940:451:447:10982:13941 . . . . 0/1:-459.838,0,-851.11:892:488:369:9703:15168 . . 0/1:-600.546,0,-1047.95:1158:605:497:12587:18678 . . . . . . . . . . . . . . . 0/1:-729.27,0,-936.074:1134:547:545:14067:17086 . . . . 0/1:-384.616,0,-641.244:739:378:323:8245:11520 . . 0/1:-309.455,0,-481.5:606:305:272:7004:9161 . . 0/1:-377.804,0,-589.405:698:365:303:8050:11178 . . . . . . 0/1:-612.226,0,-867.503:997:506:446:11935:15571 . . . . . . . . . . . 0/1:-341.823,0,-630.407:659:357:274:7014:11076 . . . . 0/1:-497.551,0,-941.914:985:537:409:10568:16574 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-971.826,0,-1297.31:1210:630:569:16838:20199:630,569 . . . chr15 73622049 . C T 14231.80 . AB=0.468583;ABP=20.6116;AC=1;AF=0.5;AN=2;AO=962;CIGAR=1X;DP=2053;DPB=2053;DPRA=0;EPP=3.45272;EPPR=14.5443;GTI=0;LEN=1;MEANALT=3;MQM=31.8462;MQMR=34.5052;NS=1;NUMALT=1;ODDS=3277;PAIRED=0.942827;PAIREDR=0.955619;PAO=0;PQA=0;PQR=0;PRO=0;QA=28364;QR=34128;RO=1059;RPL=697;RPP=424.267;RPPR=546.852;RPR=265;RUN=1;SAF=421;SAP=35.5147;SAR=541;SF=1;SRF=473;SRP=29.193;SRR=586;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.G1455A:p.A485A;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs148875639;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=2.473e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=510682;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2307;dpsi_zscore=-0.743;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.655e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.372e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.47e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1479.64,0,-2081.92:2053:1059:962:28364:34128:1059,962 . . . . . . . . . . . . . . . . . chr15 73624454 . C T 4806.80 . AB=0.512235;ABP=3.80733;AC=1;AF=0.5;AN=2;AO=314;CIGAR=1X;DP=613;DPB=613;DPRA=0;EPP=3.25926;EPPR=3.01837;GTI=0;LEN=1;MEANALT=3;MQM=32.9108;MQMR=31.8327;NS=1;NUMALT=1;ODDS=889.811;PAIRED=0.952229;PAIREDR=0.936803;PAO=0;PQA=0;PQR=0;PRO=0;QA=8853;QR=7935;RO=269;RPL=138;RPP=12.9963;RPPR=43.7032;RPR=176;RUN=1;SAF=238;SAP=184.501;SAR=76;SF=0;SRF=203;SRP=154.521;SRR=66;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs765076344;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.254e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0700;dpsi_zscore=0.381;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.251e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.69e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-508.966,0,-414.538:613:269:314:8853:7935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73624540 . G A 15708.10 . AB=0.483918;ABP=7.61992;AC=1;AF=0.5;AN=2;AO=993;CIGAR=1X;DP=2052;DPB=2052;DPRA=0;EPP=51.559;EPPR=111.329;GTI=0;LEN=1;MEANALT=3;MQM=35.3474;MQMR=35.3735;NS=1;NUMALT=1;ODDS=3616.92;PAIRED=0.876133;PAIREDR=0.871457;PAO=0;PQA=0;PQR=0;PRO=0;QA=27241;QR=29506;RO=988;RPL=468;RPP=10.1151;RPPR=32.5845;RPR=525;RUN=1;SAF=486;SAP=3.97467;SAR=507;SF=0;SRF=495;SRP=3.01909;SRR=493;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon3:c.C1303T:p.L435L;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs746461789;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=9.064e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=376663;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1261;dpsi_zscore=0.557;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.933e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1585.02,0,-1730.53:2052:988:993:27241:29506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73635803 . G A 7069.40 . AB=0.432059;ABP=40.7782;AC=1;AF=0.5;AN=2;AO=407;CIGAR=1X;DP=942;DPB=942;DPRA=0;EPP=19.1496;EPPR=10.1258;GTI=0;LEN=1;MEANALT=3;MQM=37.2776;MQMR=36.9669;NS=1;NUMALT=1;ODDS=1627.79;PAIRED=0.92629;PAIREDR=0.904483;PAO=0;PQA=0;PQR=0;PRO=0;QA=12188;QR=15638;RO=513;RPL=277;RPP=118.301;RPPR=118.251;RPR=130;RUN=1;SAF=210;SAP=3.91197;SAR=197;SF=0;SRF=278;SRP=10.8369;SRR=235;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon2:c.C1132T:p.R378C;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs758468167;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.474e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=188640;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.07;MutationAssessor_pred=M;FATHMM_score=-4.82;FATHMM_pred=D;PROVEAN_score=-7.7;PROVEAN_pred=D;VEST3_score=0.933;CADD_raw=5.493;CADD_phred=26.2;DANN_score=0.999;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=1.094;MetaSVM_pred=D;MetaLR_score=0.971;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.34;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.029;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.404;GDI_full_10282015=.;dpsi_max_tissue=0.0065;dpsi_zscore=0.044;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.031e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=8.953e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-730.853,0,-997.698:942:513:407:12188:15638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73660144 . GC TG 51.95 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=5;CIGAR=2X;DP=6;DPB=6;DPRA=0;EPP=13.8677;EPPR=5.18177;GTI=0;LEN=2;MEANALT=1;MQM=23.8;MQMR=8;NS=1;NUMALT=1;ODDS=11.5603;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=146;QR=14;RO=1;RPL=5;RPP=13.8677;RPPR=5.18177;RPR=0;RUN=1;SAF=0;SAP=13.8677;SAR=5;SF=0;SRF=0;SRP=5.18177;SRR=1;TYPE=mnp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=HCN4:NM_005477:exon1:c.467_468CA;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . 1/1:-8.80721,-1.08946,0:6:1:5:146:14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73660150 . G C 44.54 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=4;CIGAR=1X;DP=5;DPB=5;DPRA=0;EPP=11.6962;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=24;MQMR=8;NS=1;NUMALT=1;ODDS=10.1679;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=128;QR=32;RO=1;RPL=4;RPP=11.6962;RPPR=5.18177;RPR=0;RUN=1;SAF=0;SAP=11.6962;SAR=4;SF=0;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.C462G:p.R154R;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . 1/1:-7.16328,-0.706602,0:5:1:4:128:32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73660438 . G T 210.54 . AB=0.6;ABP=5.61607;AC=1;AF=0.5;AN=2;AO=18;CIGAR=1X;DP=30;DPB=30;DPRA=0;EPP=3.49285;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=38.1667;MQMR=35.1667;NS=1;NUMALT=1;ODDS=29.3177;PAIRED=0.833333;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=416;QR=356;RO=12;RPL=12;RPP=7.35324;RPPR=14.5915;RPR=6;RUN=1;SAF=10;SAP=3.49285;SAR=8;SF=0;SRF=8;SRP=5.9056;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.C174A:p.P58P;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.207e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.125e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.079e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-26.8523,0,-19.1837:30:12:18:416:356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73660502 . GCCCCCT GCCTCCT,TCCCCCT 92.28 . AB=0.484848;ABP=3.0761;AC=1,0;AF=0.5;AN=4;AO=16;CIGAR=3M1X3M;DP=71;DPB=33;DPRA=0;EPP=7.89611;EPPR=9.52472;GTI=0;LEN=1;MEANALT=4;MQM=40.625;MQMR=39.1667;NS=1;NUMALT=1;ODDS=36.1389;PAIRED=1;PAIREDR=0.916667;PAO=0;PQA=0;PQR=0;PRO=0;QA=418;QR=390;RO=12;RPL=16;RPP=37.7539;RPPR=14.5915;RPR=0;RUN=1;SAF=5;SAP=7.89611;SAR=11;SF=1;SRF=1;SRP=21.1059;SRR=11;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.G107A:p.G36E\x3bHCN4:NM_005477:exon1:c.G107A:p.G36E;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0508;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0508;1000g2015aug_all=0.0249601;avsnp147=rs143090627;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;ExAC_ALL=0.0613;ExAC_AFR=0.0263;ExAC_AMR=0.1029;ExAC_EAS=0;ExAC_FIN=0.0833;ExAC_NFE=0.1222;ExAC_OTH=0.0580;ExAC_SAS=0.0263;CLNALLELEID=141240;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-4.68;FATHMM_pred=D;PROVEAN_score=-0.67;PROVEAN_pred=N;VEST3_score=0.124;CADD_raw=2.191;CADD_phred=17.45;DANN_score=0.976;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.316;MetaSVM_pred=T;MetaLR_score=0.224;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.96;phyloP7way_vertebrate=0.853;phyloP20way_mammalian=0.695;phastCons7way_vertebrate=0.553;phastCons20way_mammalian=0.954;SiPhy_29way_logOdds=6.714;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0465;gnomAD_exome_AFR=0.0118;gnomAD_exome_AMR=0.0455;gnomAD_exome_ASJ=0.0947;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0287;gnomAD_exome_NFE=0.0637;gnomAD_exome_OTH=0.0744;gnomAD_exome_SAS=0.0238;gnomAD_genome_ALL=0.0383;gnomAD_genome_AFR=0.0116;gnomAD_genome_AMR=0.0442;gnomAD_genome_ASJ=0.0912;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0255;gnomAD_genome_NFE=0.0594;gnomAD_genome_OTH=0.0412;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.C110A:p.A37D;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.425;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-4.5;FATHMM_pred=D;PROVEAN_score=-0.02;PROVEAN_pred=N;VEST3_score=0.096;CADD_raw=1.192;CADD_phred=11.71;DANN_score=0.935;fathmm-MKL_coding_score=0.171;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.041;MetaSVM_pred=T;MetaLR_score=0.722;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.46;phyloP7way_vertebrate=-0.062;phyloP20way_mammalian=0.774;phastCons7way_vertebrate=0.585;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=3.603;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-28.5713,0,-24.2365,.,.,.:33:12:16,.:418,.:390:12,16 . . . . . . . . . 0/0:.,.,.,.,.,-99.1227:38:36:.,2:.,42:1176:36,2 . . . . . . . . . chr15 73660505 . CCCT TCCT 153.25 . AB=0.352941;ABP=9.39698;AC=10;AF=0.5;AN=18;AO=12;CIGAR=1X;DP=312;DPB=34;DPRA=0;EPP=3.73412;EPPR=12.937;GTI=0;LEN=1;MEANALT=2;MQM=26.6667;MQMR=24.7857;NS=1;NUMALT=1;ODDS=17.0265;PAIRED=0.75;PAIREDR=0.785714;PAO=0;PQA=0;PQR=0;PRO=0;QA=282;QR=387;RO=14;RPL=8;RPP=5.9056;RPPR=3.0103;RPR=4;RUN=1;SAF=5;SAP=3.73412;SAR=7;SF=0,1;SRF=6;SRP=3.63072;SRR=8;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.G107A:p.G36E\x3bHCN4:NM_005477:exon1:c.G107A:p.G36E;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0508;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0508;1000g2015aug_all=0.0249601;avsnp147=rs143090627;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;ExAC_ALL=0.0613;ExAC_AFR=0.0263;ExAC_AMR=0.1029;ExAC_EAS=0;ExAC_FIN=0.0833;ExAC_NFE=0.1222;ExAC_OTH=0.0580;ExAC_SAS=0.0263;CLNALLELEID=141240;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-4.68;FATHMM_pred=D;PROVEAN_score=-0.67;PROVEAN_pred=N;VEST3_score=0.124;CADD_raw=2.191;CADD_phred=17.45;DANN_score=0.976;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.316;MetaSVM_pred=T;MetaLR_score=0.224;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.96;phyloP7way_vertebrate=0.853;phyloP20way_mammalian=0.695;phastCons7way_vertebrate=0.553;phastCons20way_mammalian=0.954;SiPhy_29way_logOdds=6.714;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0465;gnomAD_exome_AFR=0.0118;gnomAD_exome_AMR=0.0455;gnomAD_exome_ASJ=0.0947;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0287;gnomAD_exome_NFE=0.0637;gnomAD_exome_OTH=0.0744;gnomAD_exome_SAS=0.0238;gnomAD_genome_ALL=0.0383;gnomAD_genome_AFR=0.0116;gnomAD_genome_AMR=0.0442;gnomAD_genome_ASJ=0.0912;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0255;gnomAD_genome_NFE=0.0594;gnomAD_genome_OTH=0.0412;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:.,.,-17.0204:34:14:12:282:387 . . . . . . . . . . . . . . . . . 0/1:.,.,-9.26754:38:11:17:349:284 . . . . . . . . . . . 1/1:.,.,0:26:1:18:422:14 . . . . . . . . . . 0/1:.,.,-6.10595:16:4:8:213:144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-11.7194:28:9:13:335:258 . . . . . . 0/1:-42.269,0,-38.7761:50:19:25:638:626:19,25 . . . . 0/1:.,.,-45.9379:46:21:19:495:657:21,19 . . 0/1:.,.,-41.2901:37:19:14:414:602:19,14 . 0/1:.,.,-40.6303:37:17:18:408:582:17,18 . . . . . . . chr15 73660522 . CT CG 20.98 . AB=0.461538;ABP=3.17734;AC=1;AF=0.5;AN=2;AO=6;CIGAR=1M1X;DP=13;DPB=13;DPRA=0;EPP=8.80089;EPPR=3.44459;GTI=0;LEN=1;MEANALT=2;MQM=31.5;MQMR=30;NS=1;NUMALT=1;ODDS=4.82218;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=112;QR=140;RO=5;RPL=4;RPP=4.45795;RPPR=6.91895;RPR=2;RUN=1;SAF=3;SAP=3.0103;SAR=3;SF=0;SRF=2;SRP=3.44459;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=HCN4:NM_005477:exon1:c.89delA:p.E30fs;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-6.20523,0,-8.35684:13:5:6:112:140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73660523 . T G 33.40 . AB=0.370787;ABP=15.9171;AC=2;AF=0.5;AN=4;AO=33;CIGAR=1X;DP=129;DPB=89;DPRA=0;EPP=50.9801;EPPR=27.6861;GTI=0;LEN=1;MEANALT=2;MQM=27.8485;MQMR=30.2909;NS=1;NUMALT=1;ODDS=6.46079;PAIRED=0.939394;PAIREDR=0.909091;PAO=0;PQA=0;PQR=0;PRO=0;QA=536;QR=1514;RO=55;RPL=23;RPP=14.1309;RPPR=17.2631;RPR=10;RUN=1;SAF=20;SAP=6.23461;SAR=13;SF=0;SRF=11;SRP=46.0055;SRR=44;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.A89C:p.E30A;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.608;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.173;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-4.87;FATHMM_pred=D;PROVEAN_score=-0.76;PROVEAN_pred=N;VEST3_score=0.239;CADD_raw=3.655;CADD_phred=23.2;DANN_score=0.988;fathmm-MKL_coding_score=0.756;fathmm-MKL_coding_pred=D;MetaSVM_score=0.672;MetaSVM_pred=D;MetaLR_score=0.826;MetaLR_pred=D;integrated_fitCons_score=0.658;integrated_confidence_value=0;GERP++_RS=2.57;phyloP7way_vertebrate=0.970;phyloP20way_mammalian=0.785;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=8.223;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-16.411,0,-86.2075:89:55:33:536:1514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-14.0696,0,-25.1068:40:21:18:302:526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73660576 . G C 34.12 . AB=0.375;ABP=5.18177;AC=2;AF=0.5;AN=4;AO=6;CIGAR=1X;DP=34;DPB=16;DPRA=0;EPP=4.45795;EPPR=3.25157;GTI=0;LEN=1;MEANALT=2;MQM=29.5;MQMR=24.4444;NS=1;NUMALT=1;ODDS=8.48524;PAIRED=0.833333;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=212;QR=299;RO=9;RPL=5;RPP=8.80089;RPPR=3.25157;RPR=1;RUN=1;SAF=1;SAP=8.80089;SAR=5;SF=0;SRF=3;SRP=5.18177;SRR=6;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.C36G:p.L12L;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0036;esp6500siv2_ea=0.0047;esp6500siv2_all=0.0036;esp6500siv2_ea=0.0047;1000g2015aug_all=0.00359425;avsnp147=rs201193660;Kaviar_AF=0.0027684;Kaviar_AC=428;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0018;ExAC_AMR=0.0109;ExAC_EAS=0;ExAC_FIN=0.0690;ExAC_NFE=0.0090;ExAC_OTH=0.0071;ExAC_SAS=0.0030;CLNALLELEID=101185;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0063;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0.0035;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0208;gnomAD_exome_NFE=0.0069;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0062;gnomAD_genome_AFR=0.0012;gnomAD_genome_AMR=0.0025;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0223;gnomAD_genome_NFE=0.0063;gnomAD_genome_OTH=0.0083;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-9.18729,0,-13.1334:16:9:6:212:299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-8.45157,0,-21.158:18:12:6:168:390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr15 73660629 . T G 20.23 . AB=0.6;ABP=3.44459;AC=1;AF=0.5;AN=2;AO=3;CIGAR=1X;DP=5;DPB=5;DPRA=0;EPP=3.73412;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=22.6667;MQMR=22.5;NS=1;NUMALT=1;ODDS=4.64798;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=55;QR=50;RO=2;RPL=3;RPP=9.52472;RPPR=7.35324;RPR=0;RUN=1;SAF=2;SAP=3.73412;SAR=1;SF=0;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=HCN4;GeneDetail.refGene=NM_005477:c.-18A>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-2.07656,0,-0.10912:5:2:3:55:50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr16 30908054 . T G 43.88 . AB=0.555556;ABP=3.49285;AC=1;AF=0.5;AN=2;AO=10;CIGAR=1X;DP=18;DPB=18;DPRA=0;EPP=10.8276;EPPR=18.2106;GTI=0;LEN=1;MEANALT=2;MQM=25;MQMR=20.4286;NS=1;NUMALT=1;ODDS=9.37564;PAIRED=1;PAIREDR=0.714286;PAO=0;PQA=0;PQR=0;PRO=0;QA=166;QR=111;RO=7;RPL=4;RPP=3.87889;RPPR=3.32051;RPR=6;RUN=1;SAF=2;SAP=10.8276;SAR=8;SF=0;SRF=4;SRP=3.32051;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=16p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-6.54699,0,-1.99034:18:7:10:166:111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr16 30908060 . T G 21.38 . AB=0.466667;ABP=3.15506;AC=1;AF=0.5;AN=2;AO=7;CIGAR=1X;DP=15;DPB=15;DPRA=0;EPP=18.2106;EPPR=3.32051;GTI=0;LEN=1;MEANALT=2;MQM=23.4286;MQMR=18.5714;NS=1;NUMALT=1;ODDS=2.44046;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=153;QR=133;RO=7;RPL=2;RPP=5.80219;RPPR=5.80219;RPR=5;RUN=1;SAF=2;SAP=5.80219;SAR=5;SF=0;SRF=1;SRP=10.7656;SRR=6;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=16p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-7.39455,0,-4.22924:15:7:7:153:133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr16 30908068 . T G 20.21 . AB=0.6;ABP=3.87889;AC=1;AF=0.5;AN=2;AO=6;CIGAR=1X;DP=10;DPB=10;DPRA=0;EPP=8.80089;EPPR=11.6962;GTI=0;LEN=1;MEANALT=1;MQM=18.5;MQMR=23.25;NS=1;NUMALT=1;ODDS=4.64243;PAIRED=1;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=97;QR=74;RO=4;RPL=3;RPP=3.0103;RPPR=11.6962;RPR=3;RUN=1;SAF=2;SAP=4.45795;SAR=4;SF=0;SRF=0;SRP=11.6962;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=16p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-3.46538,0,-2.89829:10:4:6:97:74 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 8192202 . C G 3809.85 . AB=0.477759;ABP=5.61821;AC=2;AF=0.5;AN=4;AO=290;CIGAR=1X;DP=1527;DPB=607;DPRA=0;EPP=4.47792;EPPR=4.40118;GTI=0;LEN=1;MEANALT=3;MQM=23.6862;MQMR=26.0392;NS=1;NUMALT=1;ODDS=678.657;PAIRED=0.903448;PAIREDR=0.911765;PAO=0;PQA=0;PQR=0;PRO=0;QA=7881;QR=8731;RO=306;RPL=133;RPP=7.32329;RPPR=15.5282;RPR=157;RUN=1;SAF=163;SAP=12.7145;SAR=127;SF=0;SRF=174;SRP=15.5282;SRR=132;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=SLC25A35;GeneDetail.refGene=NM_201520:c.*732G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17p13.1;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.00179712;avsnp147=rs370316330;Kaviar_AF=0.0014424;Kaviar_AC=223;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=0.0001;ExAC_AMR=8.655e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0.0096;CLNALLELEID=376876;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3091;dpsi_zscore=0.904;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=6.582e-05;gnomAD_exome_AMR=8.935e-05;gnomAD_exome_ASJ=0.0039;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0090;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-303.374,0,-380.014:607:306:290:7881:8731 . . . . . . . . . . . . . . . . . . 0/1:-482.311,0,-739.896:920:501:410:11389:14230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 8192289 . C G 9760.01 . AB=0.472754;ABP=11.7665;AC=1;AF=0.5;AN=2;AO=642;CIGAR=1X;DP=1358;DPB=1358;DPRA=0;EPP=19.5838;EPPR=7.46429;GTI=0;LEN=1;MEANALT=3;MQM=32.0452;MQMR=32.5852;NS=1;NUMALT=1;ODDS=2247.33;PAIRED=0.867601;PAIREDR=0.855114;PAO=0;PQA=0;PQR=0;PRO=0;QA=18829;QR=21306;RO=704;RPL=197;RPP=211.039;RPPR=273.26;RPR=445;RUN=1;SAF=375;SAP=42.4621;SAR=267;SF=0;SRF=399;SRP=30.2647;SRR=305;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RANGRF;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RANGRF:NM_001177801:exon2:c.C93G:p.V31V,RANGRF:NM_001177802:exon2:c.C93G:p.V31V,RANGRF:NM_016492:exon2:c.C93G:p.V31V;cytoBand=17p13.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0665;dpsi_zscore=-0.334;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1011.72,0,-1192.78:1358:704:642:18829:21306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 8192922 . C T 9851.80 . AB=0.418067;ABP=86.2744;AC=10;AF=0.5;AN=20;AO=597;CIGAR=1X;DP=14046;DPB=1428;DPRA=0;EPP=7.98977;EPPR=4.49634;GTI=0;LEN=1;MEANALT=3;MQM=34.7856;MQMR=34.5382;NS=1;NUMALT=1;ODDS=2033.51;PAIRED=0.924623;PAIREDR=0.906856;PAO=0;PQA=0;PQR=0;PRO=0;QA=16650;QR=23307;RO=773;RPL=357;RPP=52.8014;RPPR=23.3064;RPR=240;RUN=1;SAF=254;SAP=31.8214;SAR=343;SF=0,1;SRF=345;SRP=22.3625;SRR=428;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=RANGRF,SLC25A35;GeneDetail.refGene=NM_001177801:c.*12C>T,NM_001177802:c.*43C>T\x3bNM_201520:c.*12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17p13.1;genomicSuperDups=.;esp6500siv2_all=0.0618;esp6500siv2_ea=0.0433;esp6500siv2_all=0.0618;esp6500siv2_ea=0.0433;1000g2015aug_all=0.141573;avsnp147=rs869773;Kaviar_AF=0.0920816;Kaviar_AC=14236;Kaviar_AN=154602;ExAC_ALL=0.0977;ExAC_AFR=0.0997;ExAC_AMR=0.3252;ExAC_EAS=0.2653;ExAC_FIN=0.0918;ExAC_NFE=0.0422;ExAC_OTH=0.1020;ExAC_SAS=0.0742;CLNALLELEID=142591;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1479;dpsi_zscore=0.611;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1071;gnomAD_exome_AFR=0.0967;gnomAD_exome_AMR=0.3096;gnomAD_exome_ASJ=0.0775;gnomAD_exome_EAS=0.2601;gnomAD_exome_FIN=0.0931;gnomAD_exome_NFE=0.0388;gnomAD_exome_OTH=0.1021;gnomAD_exome_SAS=0.0725;gnomAD_genome_ALL=0.0816;gnomAD_genome_AFR=0.0971;gnomAD_genome_AMR=0.2572;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.2534;gnomAD_genome_FIN=0.0916;gnomAD_genome_NFE=0.0423;gnomAD_genome_OTH=0.0745;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-904.576,0,-1411.92:1428:773:597:16650:23307 . . . . 0/1:-657.638,0,-1116.16:1110:610:461:12508:18478 . . . . 0/1:-1859.94,0,-2498.09:2699:1358:1226:33089:41573 0/1:-849.54,0,-1081.74:1212:611:551:15175:18634 . . . . 0/1:-1046.88,0,-1489.84:1567:805:696:18690:24656 . . . . . . . . . . . . . . . . . . . . . . 0/1:-935.215,0,-1035.28:1247:590:602:16238:17970 . . 0/1:-1005.44,0,-1415.42:1457:758:645:17823:23110 . . 0/1:-974.463,0,-1209.8:1345:662:628:17131:20236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-939.292,0,-1069.73:1031:515:487:14554:16104:515,487 . . . . . . . . . . 0/1:-787.772,0,-1014.73:950:498:431:12554:15397:498,431 . . . . . . . chr17 37821644 . CGGAGGAGAAC CGGAGAAC 7011.44 . AB=0.408907;ABP=92.0231;AC=1;AF=0.5;AN=2;AO=505;CIGAR=1M3D7M;DP=1235;DPB=1084.55;DPRA=0;EPP=4.56258;EPPR=3.0103;GTI=0;LEN=3;MEANALT=68;MQM=37.2772;MQMR=40.6834;NS=1;NUMALT=1;ODDS=1614.44;PAIRED=0.924752;PAIREDR=0.968858;PAO=3;PQA=66;PQR=98;PRO=4;QA=11885;QR=18335;RO=578;RPL=239;RPP=6.14496;RPPR=32.1035;RPR=266;RUN=1;SAF=242;SAP=4.90658;SAR=263;SF=1;SRF=290;SRP=3.02533;SRR=288;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TCAP:NM_003673:exon1:c.33_35del:p.11_12del;cytoBand=17q12;genomicSuperDups=.;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0206;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0206;1000g2015aug_all=.;avsnp147=rs397516862;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=9.679e-05;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0015;ExAC_OTH=0.0011;ExAC_SAS=6.06e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=6.54e-05;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0042;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0016;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-710.834,0,-1270.36:1235:578:505:11885:18335:578,505 . . . . . . . . . . . . . . . . . . . chr17 37822045 . C T 5916.40 . AB=0.460241;ABP=14.4066;AC=1;AF=0.5;AN=2;AO=382;CIGAR=1X;DP=830;DPB=830;DPRA=0;EPP=6.85301;EPPR=3.44035;GTI=0;LEN=1;MEANALT=3;MQM=32.3639;MQMR=32.3105;NS=1;NUMALT=1;ODDS=1362.3;PAIRED=0.945026;PAIREDR=0.892421;PAO=0;PQA=0;PQR=0;PRO=0;QA=11218;QR=12773;RO=409;RPL=176;RPP=8.12633;RPPR=3.65272;RPR=206;RUN=1;SAF=252;SAP=87.6181;SAR=130;SF=0;SRF=242;SRP=32.8747;SRR=167;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.C187T:p.R63C;cytoBand=17q12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs758048577;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=2.1e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.767e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=466769;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843791,OMIM:607487;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.096;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-2.38;FATHMM_pred=D;PROVEAN_score=-4.21;PROVEAN_pred=D;VEST3_score=0.195;CADD_raw=3.502;CADD_phred=23.1;DANN_score=0.986;fathmm-MKL_coding_score=0.362;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.216;MetaSVM_pred=T;MetaLR_score=0.504;MetaLR_pred=D;integrated_fitCons_score=0.495;integrated_confidence_value=0;GERP++_RS=4.74;phyloP7way_vertebrate=0.824;phyloP20way_mammalian=-0.883;phastCons7way_vertebrate=0.982;phastCons20way_mammalian=0.535;SiPhy_29way_logOdds=13.737;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.695e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.698e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-609.037,0,-704.104:830:409:382:11218:12773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 37822309 . GCA GCC 33094.12 . AB=0;ABP=0;AC=8;AF=1;AN=8;AO=1412;CIGAR=2M1X;DP=5226;DPB=1513.67;DPRA=0;EPP=36.6958;EPPR=4.03889;GTI=0;LEN=1;MEANALT=10;MQM=39.1069;MQMR=33.9474;NS=1;NUMALT=1;ODDS=1882.34;PAIRED=0.925637;PAIREDR=0.842105;PAO=51;PQA=945.5;PQR=590.5;PRO=22;QA=44740;QR=526;RO=19;RPL=676;RPP=8.54663;RPPR=3.12459;RPR=736;RUN=1;SAF=558;SAP=137.752;SAR=854;SF=1;SRF=10;SRP=3.12459;SRR=9;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=TCAP:NM_003673:exon2:c.453delA:p.A151fs\x3bTCAP:NM_003673:exon2:c.453delA:p.A151fs;cytoBand=17q12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3777.94,-425.187,0:1485:19:1412:44740:526:19,1412 . . . . 1/1:-3516.58,-417.189,0:1391:21:1334:41609:513:21,1334 1/1:-3439.08,-386.861,0:1328:17:1275:40302:424:17,1275 . . 1/1:-2583.94,-291.631,0:1022:18:969:30538:454:18,969 . . . . . . . . chr17 37822310 . CA CC 28604.35 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=1019;CIGAR=1M1X;DP=2300;DPB=1059;DPRA=0;EPP=25.6179;EPPR=9.52472;GTI=0;LEN=1;MEANALT=7;MQM=38.6389;MQMR=37.3333;NS=1;NUMALT=1;ODDS=1355.98;PAIRED=0.881256;PAIREDR=0.916667;PAO=9;PQA=267;PQR=267;PRO=9;QA=31650;QR=235;RO=12;RPL=532;RPP=7.32554;RPPR=3.73412;RPR=487;RUN=1;SAF=332;SAP=271.568;SAR=687;SF=1;SRF=4;SRP=5.9056;SRR=8;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=TCAP:NM_003673:exon2:c.453delA:p.A151fs\x3bTCAP:NM_003673:exon2:c.453delA:p.A151fs;cytoBand=17q12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2645.83,-301.082,0:1050:12:1019:31650:235:12,1019 . . . . . . . . . . . . . 1/1:-3131.39,-338.074,0:1250:15:1210:37476:387:15,1210 . . chr17 37822311 . A C 17200.86 . AB=0.496524;ABP=3.11596;AC=152;AF=0.5;AN=206;AO=500;CIGAR=1X;DP=135077;DPB=1007;DPRA=0;EPP=25.5241;EPPR=35.9011;GTI=0;LEN=1;MEANALT=3;MQM=31.016;MQMR=32.782;NS=1;NUMALT=1;ODDS=1533.28;PAIRED=0.856;PAIREDR=0.834382;PAO=0;PQA=0;PQR=0;PRO=0;QA=13506;QR=12920;RO=477;RPL=290;RPP=30.8051;RPPR=5.01789;RPR=210;RUN=1;SAF=206;SAP=36.6421;SAR=294;SF=0,1;SRF=181;SRP=63.2152;SRR=296;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.A453C:p.A151A;cytoBand=17q12;genomicSuperDups=.;esp6500siv2_all=0.6183;esp6500siv2_ea=0.7122;esp6500siv2_all=0.6183;esp6500siv2_ea=0.7122;1000g2015aug_all=0.54972;avsnp147=rs1053651;Kaviar_AF=0.66428;Kaviar_AC=102699;Kaviar_AN=154602;ExAC_ALL=0.6706;ExAC_AFR=0.4368;ExAC_AMR=0.6277;ExAC_EAS=0.3983;ExAC_FIN=0.7367;ExAC_NFE=0.7255;ExAC_OTH=0.6914;ExAC_SAS=0.7399;CLNALLELEID=53876;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6698;gnomAD_exome_AFR=0.4320;gnomAD_exome_AMR=0.6214;gnomAD_exome_ASJ=0.7057;gnomAD_exome_EAS=0.3877;gnomAD_exome_FIN=0.7411;gnomAD_exome_NFE=0.7262;gnomAD_exome_OTH=0.6823;gnomAD_exome_SAS=0.7424;gnomAD_genome_ALL=0.6111;gnomAD_genome_AFR=0.4325;gnomAD_genome_AMR=0.6089;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.3652;gnomAD_genome_FIN=0.7456;gnomAD_genome_NFE=0.7038;gnomAD_genome_OTH=0.7004;Whole_Blood=.;Liver=Liver::0.336601::-0.2513;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-715.815,0,-682.788:1007:477:500:13506:12920 0/1:-1116.35,0,-1074.26:1577:734:799:21141:20220 1/1:-2112.01,-291.844,0:1088:22:1047:28827:427 0/1:-619.95,0,-627.138:854:406:429:11565:11461 1/1:-2586.26,-356.625,0:1339:31:1273:35040:536 0/1:-1381.72,0,-1396.11:1861:868:949:25587:24820 1/1:-2113.09,-300.425,0:1097:21:1062:28824:380 1/1:-2765.44,-377.7,0:1455:35:1388:37868:746 0/1:-909.479,0,-893.75:1246:593:617:16872:16781 1/1:-2615.25,-350.179,0:1377:38:1307:36008:717 1/1:-2030.17,-271.552,0:1089:28:1035:28432:681 0/1:-812.786,0,-962.972:1274:636:613:15904:17622 1/1:-2088.39,-303.441,0:1141:30:1088:29012:540 1/1:-2020.72,-290.966,0:1070:15:1036:28104:332 1/1:-1784.21,-221.159,0:954:32:902:24818:797 1/1:-3628.25,-485.764,0:1907:55:1811:49817:1054 0/1:-593.629,0,-680.238:966:471:472:12166:12987 0/1:-2163.87,0,-2083.18:2914:1366:1478:40547:38069 0/1:-934.68,0,-947.864:1292:599:659:17887:16937 1/1:-1833.21,-271.127,0:963:13:930:25459:224 1/1:-1985.67,-278.149,0:1028:20:989:26692:355 1/1:-2698.59,-383.482,0:1341:15:1315:36919:283 1/1:-1147.98,-162.627,0:616:16:587:16041:259 1/1:-3359.57,-455.715,0:1708:34:1650:45867:671 1/1:-2981.19,-408.415,0:1513:28:1459:40205:571 0/1:-547.298,0,-744.438:975:497:448:11357:14024 0/1:-995.092,0,-1013.5:1422:677:708:19213:19151 . 1/1:-1816.27,-271.54,0:1020:18:978:26246:396 1/1:-2122.32,-294.834,0:1084:17:1036:28395:310 1/1:-1983.76,-264.687,0:1022:26:982:27237:530 0/1:-1017.44,0,-1111.03:1473:715:721:19482:19946 0/1:-859.282,0,-1106.88:1396:714:648:17139:19817 . 0/1:-760.822,0,-1047.82:1229:641:556:14875:18144 0/1:-1099.75,0,-1200.92:1610:776:788:20781:21756 1/1:-3374.28,-487.735,0:1779:29:1718:46217:584 1/1:-2146.8,-282.848,0:1072:26:1024:29002:426 1/1:-2251.85,-318.061,0:1210:30:1159:31706:542 1/1:-1763.27,-246.352,0:915:18:877:23835:299 0/1:-1029.77,0,-1148.78:1503:731:720:19945:20553 0/1:-992.247,0,-881.938:1353:614:706:18644:17250 0/1:-851.708,0,-1092.56:1331:682:619:16821:19399 1/1:-2252.37,-305.399,0:1193:38:1130:30880:694 0/1:-1025.29,0,-1160.89:1519:739:746:19921:20862 1/1:-2582.01,-352.952,0:1335:31:1282:35152:534 0/1:-914.092,0,-1036.27:1363:669:668:17769:19197 1/1:-1340.12,-198.52,0:702:9:688:18071:168 0/1:-749.932,0,-757.921:1031:493:516:14014:13699 1/1:-2921.26,-385.85,0:1473:37:1408:39099:788 . 0/1:-769.788,0,-973.826:1338:669:622:16048:18413 0/1:-1024.64,0,-1166.34:1516:741:731:19413:20874 0/1:-1195,0,-1191.26:1670:788:838:22408:22394 1/1:-1771.96,-257.896,0:951:18:913:24263:318 0/1:-701.004,0,-797.032:1062:513:513:13463:14309 0/1:-887.847,0,-1053.41:1423:708:678:17981:19438 0/1:-457.101,0,-538.139:733:347:369:9605:9861 1/1:-1903.78,-271.547,0:976:14:944:25992:203 0/1:-1050.13,0,-1039.31:1504:712:761:20219:19764 0/1:-548.758,0,-589.917:846:403:419:11113:11513 1/1:-3287.48,-461.595,0:1748:41:1668:45182:742 1/1:-2471.4,-350.912,0:1278:23:1228:33777:402 0/1:-589.719,0,-668.371:936:468:448:11981:12678 1/1:-2972.37,-413.533,0:1538:25:1479:40456:494 1/1:-2831.35,-407.797,0:1431:15:1393:38810:235 0/1:-433.45,0,-563.916:772:398:351:9236:11015 1/1:-2474.55,-349.488,0:1269:25:1219:34090:440 0/1:-904.513,0,-1038.62:1372:671:661:17521:18821 0/1:-1071.02,0,-914.136:1424:644:750:20038:17944 1/1:-2716.98,-369.229,0:1370:27:1314:36756:470 0/1:-1191.86,0,-1422.74:1785:887:856:23245:25196 1/1:-3061.36,-415.026,0:1583:30:1513:41790:637 0/1:-439.247,0,-542.767:799:394:374:9820:11199 0/1:-793.788,0,-898.842:1194:577:581:15477:16337 . 0/1:-1163.37,0,-1089.06:1589:738:798:21953:20613 0/1:-1164.04,0,-1057.28:1551:692:809:21834:19636 1/1:-1740.88,-246.003,0:897:17:862:24039:292 0/1:-601.758,0,-558.264:833:372:434:11459:10353 0/1:-832.004,0,-1170.23:1459:758:668:17446:21274 1/1:-2908.67,-417.208,0:1529:29:1477:39975:518 1/1:-2896.27,-413.975,0:1536:38:1473:40814:618 . 1/1:-2263.19,-327.378,0:1196:18:1152:31808:359 0/1:-967.516,0,-849.281:1311:592:684:18362:16393 1/1:-1926.48,-255.75,0:976:20:936:25836:408 1/1:-2546.93,-360.75,0:1329:26:1284:35118:492 0/1:-554.502,0,-721.459:849:430:398:10658:12489 0/1:-809.091,0,-794.98:1157:541:586:15850:15033 0/1:-1277.06,0,-1261.46:1810:855:911:24290:24083 1/1:-2427.85,-342.782,0:1283:29:1223:33642:521 0/1:-1175.89,0,-1356.53:1727:846:843:22656:23849 0/1:-1198.23,0,-1020.51:1536:682:813:22009:19394 1/1:-2707.24,-386.263,0:1453:29:1398:37623:617 . 1/1:-3896.25,-421.921,0:1524:22:1495:46298:405:22,1495 0/1:-1352.55,0,-1372.01:1354:678:668:20571:20950:678,668 . . 1/1:-3165.96,-348.089,0:1259:17:1240:38241:384:17,1240 0/1:-1531.43,0,-1594.94:1587:805:767:23647:24494:805,767 0/1:-1347.94,0,-1509.67:1414:724:680:20778:22720:724,680 . . 0/1:-1805.29,0,-1649.32:1769:847:906:27622:25524:847,906 1/1:-3919.65,-425.798,0:1541:28:1504:46554:493:28,1504 . 0/1:-1280.39,0,-1268.39:1325:648:665:20061:19522:648,665 1/1:-3283.2,-360.381,0:1273:17:1250:38922:282:17,1250 . 0/1:-1441.48,0,-1423.31:1451:715:721:22193:22053:715,721 1/1:-3663.24,-390.072,0:1463:30:1422:43618:578:30,1422 . 0/1:-1207.76,0,-1357.03:1262:648:610:18871:20213:648,610 0/1:-1663.72,0,-1605.11:1629:807:816:25371:24462:807,816 chr17 39912141 . TCCAT TCCAA,GCCAT 323.41 . AB=0;ABP=0;AC=2,0;AF=0;AN=6;AO=5;CIGAR=1X;DP=248;DPB=91;DPRA=0;EPP=3.44459;EPPR=3.94093;GTI=0;LEN=1;MEANALT=2;MQM=37.2;MQMR=37.3571;NS=1;NUMALT=1;ODDS=89.6731;PAIRED=1;PAIREDR=0.97619;PAO=0;PQA=0;PQR=0;PRO=0;QA=123;QR=2679;RO=84;RPL=4;RPP=6.91895;RPPR=62.5707;RPR=1;RUN=1;SAF=2;SAP=3.44459;SAR=3;SF=1;SRF=31;SRP=15.5221;SRR=53;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=JUP:NM_002230:exon14:c.2089delA:p.M697fs,JUP:NM_021991:exon14:c.2089delA:p.M697fs;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon14:c.A2093C:p.D698A,JUP:NM_021991:exon14:c.A2093C:p.D698A;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.029;SIFT_pred=D;Polyphen2_HDIV_score=0.036;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.525;MutationAssessor_pred=L;FATHMM_score=-0.01;FATHMM_pred=T;PROVEAN_score=-0.99;PROVEAN_pred=N;VEST3_score=0.685;CADD_raw=3.443;CADD_phred=23.0;DANN_score=0.987;fathmm-MKL_coding_score=0.896;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.870;MetaSVM_pred=T;MetaLR_score=0.189;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.94;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.562;GDI_full_10282015=.;dpsi_max_tissue=-2.3719;dpsi_zscore=-2.005;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-209.774:91:84:.,5:.,123:2679:84,5 . 0/0:.,.,.,.,.,-253.014:110:104:.,6:.,113:3138:104,6 . 1/1:-104.33,-6.78281,0,.,.,.:47:2:40,.:1301,.:66:2,40 . . . . . . . . chr17 39912145 . TGT AGT 942.59 . AB=0;ABP=0;AC=172;AF=1;AN=214;AO=28;CIGAR=1X;DP=7460;DPB=29;DPRA=0;EPP=4.25114;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=31.5;MQMR=0;NS=1;NUMALT=1;ODDS=41.812;PAIRED=0.928571;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=701;QR=0;RO=0;RPL=22;RPP=22.8638;RPPR=0;RPR=6;RUN=1;SAF=8;SAP=14.1779;SAR=20;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon14:c.A2089T:p.M697L,JUP:NM_021991:exon14:c.A2089T:p.M697L;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.6970;esp6500siv2_ea=0.7391;esp6500siv2_all=0.6970;esp6500siv2_ea=0.7391;1000g2015aug_all=0.58726;avsnp147=rs1126821;Kaviar_AF=0.657482;Kaviar_AC=101648;Kaviar_AN=154602;ExAC_ALL=0.6592;ExAC_AFR=0.6037;ExAC_AMR=0.4306;ExAC_EAS=0.3439;ExAC_FIN=0.6698;ExAC_NFE=0.7291;ExAC_OTH=0.6558;ExAC_SAS=0.7361;CLNALLELEID=34156;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.706;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.081;LRT_pred=N;MutationTaster_score=0.817;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.31;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_pred=N;VEST3_score=0.106;CADD_raw=1.242;CADD_phred=11.97;DANN_score=0.691;fathmm-MKL_coding_score=0.683;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.959;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.12;phyloP7way_vertebrate=-0.013;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=12.111;GDI_full_10282015=.;dpsi_max_tissue=-1.8241;dpsi_zscore=-1.841;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150228#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.6478;gnomAD_exome_AFR=0.5978;gnomAD_exome_AMR=0.4460;gnomAD_exome_ASJ=0.6982;gnomAD_exome_EAS=0.3377;gnomAD_exome_FIN=0.6533;gnomAD_exome_NFE=0.7357;gnomAD_exome_OTH=0.6635;gnomAD_exome_SAS=0.7329;gnomAD_genome_ALL=0.6634;gnomAD_genome_AFR=0.6017;gnomAD_genome_AMR=0.4880;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.3202;gnomAD_genome_FIN=0.6645;gnomAD_genome_NFE=0.7421;gnomAD_genome_OTH=0.7119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 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1/1:.,.,0:83:2:79:2103:28 0/1:.,.,-61.9785:103:43:55:1585:1182 1/1:.,.,0:72:2:70:1743:50 1/1:.,.,0:47:2:39:1020:28 . 0/1:.,.,-95.1519:84:53:29:826:1614 0/1:.,.,-76.7475:87:53:31:924:1428 0/1:.,.,-71.504:77:43:32:842:1283 0/1:.,.,-48.7491:41:29:12:322:830 0/1:.,.,-11.0368:36:10:24:615:266 1/1:.,.,0:86:4:77:2042:69 1/1:.,.,0:57:0:52:1465:0 1/1:.,.,0:88:1:84:2233:14 1/1:.,.,0:78:3:72:1915:49 1/1:.,.,0:64:0:61:1655:0 0/1:.,.,-56.3718:67:34:30:825:1067 0/1:.,.,-37.8485:47:24:23:629:671 0/1:.,.,-109.88:87:54:30:827:1638 1/1:.,.,0:51:0:49:1404:0 1/1:.,.,0:46:0:44:1239:0 0/1:.,.,-81.5141:87:42:39:998:1225 1/1:.,.,0:84:3:79:1980:42 . 1/1:.,.,0:71:4:64:1715:56 1/1:.,.,0:50:0:47:1300:0 . 1/1:-208.556,-21.2786,0:90:1:78:2408:28:1,78 1/1:.,.,0:85:1:83:2589:36:1,83 1/1:-150.364,-17.4597,0:67:0:58:1717:0:0,58 1/1:.,.,0:70:1:69:2198:14:1,69 1/1:.,.,0:69:1:68:2055:14:1,68 1/1:.,.,0:86:0:86:2657:0:0,86 0/1:.,.,-65.2385:73:33:39:1161:1021:33,39 1/1:-198.888,-24.9855,0:89:0:81:2310:0:0,81 1/1:.,.,0:100:1:98:3034:14:1,98 0/1:.,.,-85.8536:106:45:58:1763:1385:45,58 1/1:-153.741,-15.9648,0:71:2:58:1791:50:2,58 . 1/1:.,.,0:64:0:62:1932:0:0,62 1/1:.,.,0:65:2:62:1916:72:2,62 0/1:.,.,-65.6709:89:35:53:1604:1076:35,53 1/1:.,.,0:93:0:90:2812:0:0,90 1/1:.,.,0:72:2:69:2171:50:2,69 1/1:.,.,0:75:0:68:2048:0:0,68 1/1:.,.,0:69:2:66:2060:28:2,66 1/1:.,.,0:74:1:73:2230:14:1,73 chr17 39913645 . T C 16829.40 . AB=0;ABP=0;AC=178;AF=1;AN=218;AO=767;CIGAR=1X;DP=112660;DPB=799;DPRA=0;EPP=9.26425;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=33.8475;MQMR=25.2222;NS=1;NUMALT=1;ODDS=1007.08;PAIRED=0.926988;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=21610;QR=262;RO=9;RPL=205;RPP=363.834;RPPR=22.5536;RPR=562;RUN=1;SAF=448;SAP=50.123;SAR=319;SF=0,1;SRF=3;SRP=5.18177;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.7936;esp6500siv2_ea=0.7456;esp6500siv2_all=0.7936;esp6500siv2_ea=0.7456;1000g2015aug_all=0.717252;avsnp147=rs7216034;Kaviar_AF=0.705741;Kaviar_AC=109109;Kaviar_AN=154602;ExAC_ALL=0.7100;ExAC_AFR=0.8991;ExAC_AMR=0.5018;ExAC_EAS=0.5053;ExAC_FIN=0.7154;ExAC_NFE=0.7393;ExAC_OTH=0.7004;ExAC_SAS=0.7234;CLNALLELEID=256165;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0417;dpsi_zscore=0.259;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6975;gnomAD_exome_AFR=0.8964;gnomAD_exome_AMR=0.5183;gnomAD_exome_ASJ=0.7089;gnomAD_exome_EAS=0.5010;gnomAD_exome_FIN=0.7035;gnomAD_exome_NFE=0.7450;gnomAD_exome_OTH=0.6993;gnomAD_exome_SAS=0.7234;gnomAD_genome_ALL=0.7695;gnomAD_genome_AFR=0.8946;gnomAD_genome_AMR=0.5552;gnomAD_genome_ASJ=0.6954;gnomAD_genome_EAS=0.4938;gnomAD_genome_FIN=0.7183;gnomAD_genome_NFE=0.7532;gnomAD_genome_OTH=0.7444;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1667.38,-218.619,0:799:9:767:21610:262 0/1:-954.096,0,-816.946:1147:504:586:16641:14747 1/1:-2153.4,-276.704,0:988:9:960:27455:214 1/1:-1267.61,-164.963,0:591:4:572:16186:96 1/1:-1982.3,-244.345,0:975:21:932:25923:535 1/1:-2853.8,-375.86,0:1345:12:1307:36649:281 0/1:-675.395,0,-708.414:876:413:427:11846:12021 0/1:-911.83,0,-885.225:1145:530:568:16146:15416 0/1:-964.187,0,-649.358:1012:412:558:15882:11860 0/1:-839.373,0,-852.557:1105:525:546:14878:14998 1/1:-1986.33,-266.637,0:929:6:905:25434:126 0/1:-664.837,0,-822.983:931:452:433:11806:13494 1/1:-2043.83,-267.054,0:957:8:922:26181:218 1/1:-1700.24,-230.524,0:839:9:810:22466:201 1/1:-1873.77,-232.274,0:890:15:847:23896:351 0/1:-1259.78,0,-1222.91:1521:702:767:21813:20987 1/1:-1672.32,-221.727,0:816:11:776:22280:223 1/1:-4393.26,-576.74,0:2042:18:1980:56799:376 1/1:-2256.44,-292.489,0:1033:5:999:28343:110 1/1:-1438.65,-191.947,0:671:5:646:18432:77 1/1:-1438.07,-189.251,0:674:8:651:18667:152 0/1:-971.79,0,-913.981:1210:553:610:16749:15938 1/1:-1164.39,-164.982,0:582:5:561:15471:90 1/1:-3007.53,-391.074,0:1399:12:1350:38469:286 0/1:-1060.89,0,-988.16:1321:606:670:18411:17419 0/1:-576.662,0,-615.271:798:373:394:10716:11057 0/1:-814.245,0,-814.528:1020:472:507:14129:13907 1/1:-2047.92,-261.544,0:947:7:908:25968:164 0/1:-508.46,0,-589.462:746:356:357:9879:10346 0/1:-719.723,0,-632.08:830:364:433:12182:10973 1/1:-1880.83,-245.973,0:878:8:844:24085:152 0/1:-973.023,0,-986.538:1178:560:584:16622:16492 1/1:-2245.2,-298.752,0:1088:15:1046:29398:297 1/1:-2239.96,-309.753,0:1078:4:1044:28998:74 0/1:-727.461,0,-820.77:944:466:441:12774:13515 0/1:-877.178,0,-957.939:1153:563:550:15746:16361 0/1:-999.766,0,-1172.52:1376:664:648:18279:19889 0/1:-871.747,0,-662.772:950:398:511:14399:11586 0/1:-796.447,0,-842.075:1064:498:517:14431:14670 1/1:-1699.15,-224.752,0:804:6:780:21866:146 1/1:-2528.44,-327.307,0:1189:12:1149:32733:295 1/1:-2371.78,-325.546,0:1126:4:1097:30685:78 1/1:-2507.87,-326.831,0:1160:12:1123:32049:230 1/1:-2115.07,-278.271,0:986:7:955:27368:171 1/1:-2663.13,-355.995,0:1242:5:1211:34113:114 . 0/1:-688.949,0,-883.807:991:496:459:12771:14867 1/1:-1381.78,-178.971,0:631:5:616:17482:110 0/1:-637.737,0,-559.11:745:326:387:10924:9771 1/1:-2760.94,-346.312,0:1228:10:1200:34703:228 1/1:-2488.54,-326.424,0:1139:6:1104:31875:119 1/1:-1939.96,-259.807,0:951:10:912:25364:250 0/1:-1006.1,0,-956.675:1180:557:584:16828:16248 1/1:-2512.92,-314.994,0:1193:16:1143:32231:438 0/1:-641.099,0,-458.33:729:302:394:10908:8821 1/1:-1791.93,-232.238,0:814:7:791:22416:151 0/1:-905.28,0,-997.186:1209:594:563:16352:17139 1/1:-1176.37,-164.983,0:583:6:561:15759:102 1/1:-1700.27,-226.61,0:787:2:767:21726:64 0/1:-962.664,0,-828.055:1133:512:571:16190:14905 0/1:-586.481,0,-550.623:766:350:391:11023:10006 0/1:-985.517,0,-1109.73:1275:637:596:17300:18714 1/1:-2147.4,-272.848,0:1000:8:963:27607:228 1/1:-1502.74,-199.718,0:734:9:704:19721:214 0/1:-923.599,0,-1133.03:1264:620:591:16386:18382 0/1:-873.962,0,-937.089:1124:535:544:15058:15859 1/1:-1333.25,-187.536,0:670:4:647:18246:116 . 1/1:-2143.96,-284.992,0:1034:10:1005:28378:283 1/1:-2137.21,-272.661,0:1019:14:992:27898:355 1/1:-2217.9,-291.687,0:1042:9:1014:28549:267 . 1/1:-2766.81,-355.642,0:1276:9:1241:35103:267 1/1:-1141.01,-173.069,0:627:5:603:15719:141 . 0/1:-838.918,0,-1034.26:1222:607:562:15522:17809 0/1:-1026.11,0,-1030.58:1271:598:635:18184:17812 0/1:-1038.17,0,-910.752:1206:541:617:17683:16025 0/1:-611.382,0,-571.402:758:338:392:10906:9994 0/1:-558.803,0,-495.65:669:296:351:9621:8681 1/1:-2079.02,-277.408,0:996:9:962:27236:195 1/1:-2635.16,-358.18,0:1263:8:1223:34308:196 1/1:-2639.53,-341.604,0:1227:10:1187:33987:248 1/1:-1951.39,-265.036,0:935:6:900:25142:106 1/1:-1954.28,-253.993,0:947:12:908:25813:291 0/1:-788.47,0,-816.837:1032:475:504:14196:14135 0/1:-625.148,0,-657.469:805:391:387:11011:11158 . 1/1:-1199.09,-153.777,0:556:4:540:15356:113 1/1:-2008.99,-266.658,0:960:11:933:26411:282 0/1:-1304.92,0,-995.801:1420:600:757:21850:17751 1/1:-2150.96,-291.683,0:1025:6:994:27740:119 . 1/1:-2417.47,-312.891,0:1185:22:1139:31995:537 1/1:-2331.4,-313.709,0:1135:12:1092:30362:323 . 1/1:-3047.51,-336.036,0:1188:6:1163:35818:194:6,1163 1/1:-3091.24,-328.099,0:1200:11:1169:36583:308:11,1169 1/1:-3164.01,-351.37,0:1226:6:1193:37440:119:6,1193 1/1:-1997.95,-226.57,0:787:3:769:23700:77:3,769 1/1:-2711.34,-297.148,0:1044:6:1019:31884:157:6,1019 1/1:-3311.32,-346.506,0:1288:13:1255:39496:407:13,1255 0/1:-1198.66,0,-1069.95:1122:537:571:17992:16407:537,571 1/1:-3115.75,-344.302,0:1226:10:1191:36908:290:10,1191 1/1:-2715.73,-291.607,0:1058:9:1028:32088:245:9,1028 0/1:-1316.32,0,-1141.88:1225:553:641:19836:17452:553,641 1/1:-3360.85,-362.943,0:1309:9:1278:39768:279:9,1278 1/1:-2439.51,-264.143,0:928:4:912:28685:140:4,912 1/1:-2757.7,-280.846,0:1081:14:1048:32813:477:14,1048 1/1:-2691.5,-294.166,0:1036:6:1012:31813:146:6,1012 0/1:-1317.27,0,-1196.36:1273:603:643:19939:18395:603,643 1/1:-2928.74,-316.941,0:1176:10:1137:35065:334:10,1137 1/1:-3075.26,-342.766,0:1191:3:1167:36194:108:3,1167 1/1:-2598.93,-284.255,0:1002:6:981:30776:146:6,981 1/1:-2677.45,-283.675,0:1018:7:998:31390:226:7,998 1/1:-3015.85,-320.574,0:1171:11:1140:35792:335:11,1140 chr17 39913700 . G A 12390.90 . AB=0.463967;ABP=21.9457;AC=1;AF=0.5;AN=2;AO=779;CIGAR=1X;DP=1679;DPB=1679;DPRA=0;EPP=25.0902;EPPR=6.16576;GTI=0;LEN=1;MEANALT=3;MQM=33.3928;MQMR=34.3926;NS=1;NUMALT=1;ODDS=2853.11;PAIRED=0.903723;PAIREDR=0.913405;PAO=0;PQA=0;PQR=0;PRO=0;QA=22761;QR=25365;RO=843;RPL=312;RPP=69.9803;RPPR=34.7478;RPR=467;RUN=1;SAF=460;SAP=58.4288;SAR=319;SF=0;SRF=493;SRP=55.6846;SRR=350;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon12:c.C2013T:p.S671S,JUP:NM_021991:exon12:c.C2013T:p.S671S;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0507;dpsi_zscore=0.301;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.121e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.79e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1262.48,0,-1490.92:1679:843:779:22761:25365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 39913754 . G A 21009.20 . AB=0.49317;ABP=3.8705;AC=1;AF=0.5;AN=2;AO=1047;CIGAR=1X;DP=2123;DPB=2123;DPRA=0;EPP=7.59175;EPPR=8.66701;GTI=0;LEN=1;MEANALT=3;MQM=39.0506;MQMR=39.4913;NS=1;NUMALT=1;ODDS=4811.52;PAIRED=0.966571;PAIREDR=0.970135;PAO=0;PQA=0;PQR=0;PRO=0;QA=32399;QR=32259;RO=1038;RPL=582;RPP=31.4012;RPPR=51.3433;RPR=465;RUN=1;SAF=596;SAP=46.616;SAR=451;SF=1;SRF=594;SRP=50.0798;SRR=444;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon12:c.C1959T:p.S653S,JUP:NM_021991:exon12:c.C1959T:p.S653S;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs375451560;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.942e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.492e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=178212;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1186;dpsi_zscore=-0.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.903e-05;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-2117.18,0,-2108.33:2123:1038:1047:32399:32259:1038,1047 . . . . . . . . . . . . . . . . . chr17 39913771 . C T 7548.77 . AB=0.445104;ABP=29.4739;AC=2;AF=0.5;AN=4;AO=450;CIGAR=1X;DP=2319;DPB=1011;DPRA=0;EPP=3.08751;EPPR=9.06359;GTI=0;LEN=1;MEANALT=3;MQM=33.16;MQMR=35.2568;NS=1;NUMALT=1;ODDS=1501.01;PAIRED=0.931111;PAIREDR=0.903475;PAO=0;PQA=0;PQR=0;PRO=0;QA=12302;QR=15919;RO=518;RPL=241;RPP=7.95161;RPPR=3.16121;RPR=209;RUN=1;SAF=250;SAP=15.074;SAR=200;SF=0;SRF=284;SRP=13.4904;SRR=234;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon12:c.G1942A:p.V648I,JUP:NM_021991:exon12:c.G1942A:p.V648I;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0090;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0090;1000g2015aug_all=0.00259585;avsnp147=rs143043662;Kaviar_AF=0.0076842;Kaviar_AC=1188;Kaviar_AN=154602;ExAC_ALL=0.0074;ExAC_AFR=0.0020;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0.0145;ExAC_NFE=0.0112;ExAC_OTH=0.0066;ExAC_SAS=0.0008;CLNALLELEID=55007;CLNDN=Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.171;SIFT_pred=T;Polyphen2_HDIV_score=0.416;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.056;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-0.11;FATHMM_pred=T;PROVEAN_score=-0.61;PROVEAN_pred=N;VEST3_score=0.367;CADD_raw=4.688;CADD_phred=24.6;DANN_score=0.997;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.118;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.98;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=17.005;GDI_full_10282015=.;dpsi_max_tissue=-0.3414;dpsi_zscore=-0.911;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM146193#"Arrhythmogenic_cardiomyopathy";gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0019;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0133;gnomAD_exome_NFE=0.0119;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0090;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0123;gnomAD_genome_NFE=0.0134;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-662.489,0,-959.886:1011:518:450:12302:15919 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-872.679,0,-1073.59:1308:636:613:16686:19326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 39913995 . G A 4131.90 . AB=0.419467;ABP=51.6256;AC=1;AF=0.5;AN=2;AO=362;CIGAR=1X;DP=863;DPB=863;DPRA=0;EPP=3.03429;EPPR=49.5505;GTI=0;LEN=1;MEANALT=3;MQM=29.6243;MQMR=28.1512;NS=1;NUMALT=1;ODDS=951.404;PAIRED=0.911602;PAIREDR=0.844186;PAO=0;PQA=0;PQR=0;PRO=0;QA=9392;QR=11843;RO=430;RPL=221;RPP=41.401;RPPR=16.6653;RPR=141;RUN=1;SAF=99;SAP=164.347;SAR=263;SF=0;SRF=160;SRP=64.1145;SRR=270;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon11:c.C1815T:p.A605A,JUP:NM_021991:exon11:c.C1815T:p.A605A;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs543862977;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.462e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.563e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=487694;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1294;dpsi_zscore=-0.531;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.885e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.747e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-442.687,0,-580.652:863:430:362:9392:11843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 39923613 . GA GG 17926.05 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=627;CIGAR=1M1X;DP=1585;DPB=649;DPRA=0;EPP=142.93;EPPR=3.73412;GTI=0;LEN=1;MEANALT=6;MQM=37.8676;MQMR=35.6667;NS=1;NUMALT=1;ODDS=850.169;PAIRED=0.76874;PAIREDR=0.333333;PAO=6;PQA=174;PQR=0;PRO=0;QA=19568;QR=86;RO=3;RPL=155;RPP=351.031;RPPR=3.73412;RPR=472;RUN=1;SAF=565;SAP=879.25;SAR=62;SF=1;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1632.49,-183.915,0:646:3:627:19568:86:3,627 . . . . . . . . . . . . . . . 1/1:-2380.16,-267.319,0:939:4:916:28834:131:4,916 chr17 39923614 . A G 10581.94 . AB=0;ABP=0;AC=187;AF=1;AN=216;AO=499;CIGAR=1X;DP=74316;DPB=510;DPRA=0;EPP=227.246;EPPR=16.0391;GTI=0;LEN=1;MEANALT=3;MQM=29.1683;MQMR=28.3333;NS=1;NUMALT=1;ODDS=652.872;PAIRED=0.847695;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14757;QR=194;RO=6;RPL=88;RPP=457.013;RPPR=16.0391;RPR=411;RUN=1;SAF=449;SAP=695.797;SAR=50;SF=0,1;SRF=6;SRP=16.0391;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.8343;esp6500siv2_ea=0.8084;esp6500siv2_all=0.8343;esp6500siv2_ea=0.8084;1000g2015aug_all=0.744209;avsnp147=rs12942034;Kaviar_AF=0.740928;Kaviar_AC=114549;Kaviar_AN=154602;ExAC_ALL=0.7638;ExAC_AFR=0.8954;ExAC_AMR=0.5086;ExAC_EAS=0.5023;ExAC_FIN=0.7981;ExAC_NFE=0.8096;ExAC_OTH=0.7633;ExAC_SAS=0.7960;CLNALLELEID=256168;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0190;dpsi_zscore=0.129;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7522;gnomAD_exome_AFR=0.8927;gnomAD_exome_AMR=0.5305;gnomAD_exome_ASJ=0.8003;gnomAD_exome_EAS=0.4994;gnomAD_exome_FIN=0.7877;gnomAD_exome_NFE=0.8138;gnomAD_exome_OTH=0.7615;gnomAD_exome_SAS=0.7995;gnomAD_genome_ALL=0.8105;gnomAD_genome_AFR=0.8903;gnomAD_genome_AMR=0.5704;gnomAD_genome_ASJ=0.8033;gnomAD_genome_EAS=0.4975;gnomAD_genome_FIN=0.7995;gnomAD_genome_NFE=0.8146;gnomAD_genome_OTH=0.7980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1040.66,-138.149,0:510:6:499:14757:194 1/1:-1496.03,-209.295,0:725:3:714:21299:86 1/1:-1031.23,-147.744,0:510:2:495:15021:28 1/1:-979.097,-136.852,0:465:1:456:13638:36 1/1:-1475.76,-207.836,0:745:8:725:21679:198 1/1:-1726.22,-243.184,0:837:5:821:24502:150 1/1:-1173.54,-166.135,0:569:2:562:16666:42 1/1:-1605.37,-222.311,0:818:9:797:23977:245 0/1:-484.836,0,-614.158:662:342:302:9186:10566 0/1:-415.736,0,-566.259:632:327:286:8545:9913 1/1:-1116.8,-158.358,0:578:5:567:16972:158 0/1:-484.498,0,-448.099:608:278:320:9433:8441 1/1:-1282.2,-182.396,0:641:6:628:18628:140 1/1:-1058.71,-157.726,0:540:1:527:16013:14 1/1:-1078.89,-144.522,0:523:4:515:15728:144 1/1:-2093.5,-282.435,0:971:4:955:29041:85 1/1:-906.978,-131.591,0:464:3:451:13329:64 0/1:-1106.58,0,-1151.32:1443:696:719:21877:21369 1/1:-1209.75,-171.642,0:580:1:570:17159:14 1/1:-1000.43,-137.215,0:489:5:479:14287:127 0/1:-313.663,0,-422.771:471:242:220:6538:7365 0/1:-547.078,0,-438.747:644:273:358:10645:8336 1/1:-645.759,-103.741,0:352:1:346:10312:36 1/1:-1716.75,-241.136,0:833:4:818:24957:85 0/1:-613.977,0,-502.512:753:324:404:12091:9759 0/1:-412.202,0,-339.356:540:238:282:8314:7141 0/1:-558.313,0,-563.62:717:345:354:10601:10557 1/1:-1280.76,-173.657,0:586:1:578:17579:14 1/1:-1120.71,-163.235,0:587:5:574:16876:149 1/1:-1287.34,-174.626,0:600:2:592:17960:68 1/1:-1173.28,-164.777,0:568:3:559:16845:73 . 1/1:-1548.31,-217.253,0:745:3:734:21841:77 1/1:-1636.49,-233.722,0:819:4:803:24270:107 1/1:-1376.73,-187.642,0:650:4:639:19258:98 0/1:-486.4,0,-555.39:746:354:369:10694:10684 1/1:-2133.55,-309.634,0:1056:3:1038:30568:42 1/1:-1145.26,-157.845,0:551:2:533:16018:41 . 1/1:-1197.44,-167.049,0:566:1:558:16600:14 1/1:-1560.24,-218.898,0:738:1:727:21735:14 1/1:-1470.77,-212.07,0:721:2:709:20866:35 1/1:-1464.48,-208.3,0:713:3:703:20919:49 1/1:-1291.02,-174.832,0:623:7:607:18138:186 1/1:-1643.23,-226.963,0:790:3:772:23133:77 0/1:-521.175,0,-631.463:725:367:345:10367:11416 1/1:-1505.65,-206.395,0:712:3:698:20805:56 1/1:-854.497,-116.045,0:400:2:388:11649:46 0/1:-460.73,0,-475.629:592:280:290:8917:8701 1/1:-1552.95,-217.904,0:764:8:749:22156:203 1/1:-1558.64,-225.745,0:771:4:760:22707:105 0/1:-412.829,0,-477.946:621:302:300:8751:9188 0/1:-616.253,0,-658.566:803:385:394:12034:11642 1/1:-1738.45,-242.62,0:842:6:824:24856:141 1/1:-824.544,-122.038,0:427:2:418:12104:50 1/1:-978.543,-134.725,0:477:4:470:13998:116 1/1:-1663.91,-234.935,0:816:4:790:23509:85 1/1:-718.819,-106.836,0:368:3:362:10864:86 1/1:-1032.97,-143.879,0:509:3:500:15173:86 0/1:-633.781,0,-648.813:838:402:411:12154:12450 0/1:-314.571,0,-367.062:476:234:227:6627:7140 1/1:-1726.96,-235.723,0:858:11:831:24645:240 1/1:-1419.16,-194.151,0:666:2:654:19648:50 1/1:-913.43,-134.994,0:470:3:459:13538:71 0/1:-530.337,0,-605.782:742:368:347:10416:11331 0/1:-582.546,0,-590.477:758:349:387:11578:10718 1/1:-662.092,-101.7,0:355:2:342:9830:28 . 1/1:-1441,-209.371,0:730:5:710:20897:96 1/1:-1361.81,-185.575,0:646:3:632:19506:108 0/1:-483.295,0,-563.021:692:343:334:10147:10495 0/1:-732.785,0,-705.532:937:436:477:14233:13348 1/1:-1570.25,-212.275,0:789:12:762:22985:309 1/1:-679.073,-108.853,0:375:3:365:10429:42 0/1:-418.112,0,-405.765:525:245:269:8203:7503 0/1:-734.777,0,-654.299:949:434:493:14779:12911 0/1:-507.56,0,-638.95:789:404:366:10979:12026 0/1:-618.545,0,-575.92:785:359:408:11958:11066 0/1:-465.242,0,-314.479:496:199:283:8705:5989 0/1:-278.708,0,-302.003:401:205:185:5612:5976 1/1:-1401.14,-194.146,0:701:6:687:20613:181 1/1:-1679.41,-239.564,0:813:2:800:24395:28 1/1:-1709.47,-244.058,0:828:3:815:24548:60 1/1:-1296.79,-179.614,0:660:8:641:18871:217 1/1:-1278.11,-184.314,0:668:5:653:19496:158 0/1:-412.044,0,-568.871:682:352:309:9184:10482 0/1:-319.542,0,-403.972:475:235:229:6874:7262 . 1/1:-876.352,-125.831,0:425:0:418:12318:0 1/1:-1145.81,-158.178,0:545:1:535:16196:36 1/1:-1604.49,-222.025,0:837:16:810:23741:383 1/1:-1457.12,-208.848,0:714:2:703:21088:50 1/1:-1814.7,-250.366,0:876:6:861:26109:135 1/1:-1622.59,-236.752,0:802:2:789:23213:46 1/1:-1582.62,-233.083,0:792:2:774:22996:41 . 1/1:-2627.71,-299.25,0:1024:2:1011:31668:64:2,1011 1/1:-2094.72,-229.478,0:821:6:809:25522:192:6,809 1/1:-2261.5,-260.011,0:896:4:881:27381:85:4,881 . 1/1:-2031.56,-226.912,0:770:2:760:24301:28:2,760 1/1:-2155.85,-233.787,0:820:4:810:25738:140:4,810 1/1:-2030.83,-230.891,0:781:1:773:24469:32:1,773 1/1:-2249.52,-263.966,0:905:2:891:27519:54:2,891 1/1:-1990.33,-224.703,0:774:2:759:23695:50:2,759 . 1/1:-2271.25,-255.595,0:894:5:880:27718:136:5,880 1/1:-1686.81,-192.591,0:664:3:655:20456:86:3,655 1/1:-1971.67,-221.702,0:759:1:746:23725:36:1,746 1/1:-1739.48,-200.623,0:686:1:676:21171:36:1,676 0/1:-913.946,0,-773.802:841:380:448:14153:12180:380,448 1/1:-1990.79,-224.141,0:786:3:773:24245:108:3,773 1/1:-2290.57,-260.994,0:896:3:885:27725:71:3,885 1/1:-1777.79,-209.517,0:707:0:696:21669:0:0,696 1/1:-1804.15,-203.72,0:691:2:683:21798:28:2,683 . chr17 39923648 . C T 5083.81 . AB=0.436083;ABP=42.15;AC=1;AF=0.5;AN=2;AO=481;CIGAR=1X;DP=1103;DPB=1103;DPRA=0;EPP=22.084;EPPR=77.3871;GTI=0;LEN=1;MEANALT=3;MQM=28.2474;MQMR=31.8309;NS=1;NUMALT=1;ODDS=1170.59;PAIRED=0.781705;PAIREDR=0.81295;PAO=0;PQA=0;PQR=0;PRO=0;QA=12428;QR=15783;RO=556;RPL=190;RPP=49.0627;RPPR=33.2547;RPR=291;RUN=1;SAF=362;SAP=269.587;SAR=119;SF=0;SRF=401;SRP=239.357;SRR=155;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon5:c.G892A:p.G298S,JUP:NM_021991:exon5:c.G892A:p.G298S;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000399361;avsnp147=rs199597864;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=7.429e-05;ExAC_AFR=9.639e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=198493;CLNDN=Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.098;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.97;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-4.95;PROVEAN_pred=D;VEST3_score=0.87;CADD_raw=6.641;CADD_phred=32;DANN_score=0.998;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.308;MetaSVM_pred=T;MetaLR_score=0.415;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=5.41;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=18.355;GDI_full_10282015=.;dpsi_max_tissue=-0.8069;dpsi_zscore=-1.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.536e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.463e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.672e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-551.885,0,-854.57:1103:556:481:12428:15783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 39925230 . C T 5078.60 . AB=0.432927;ABP=41.4613;AC=1;AF=0.5;AN=2;AO=426;CIGAR=1X;DP=984;DPB=984;DPRA=0;EPP=5.94638;EPPR=8.8737;GTI=0;LEN=1;MEANALT=3;MQM=31.8263;MQMR=32.8126;NS=1;NUMALT=1;ODDS=1169.39;PAIRED=0.880282;PAIREDR=0.883629;PAO=0;PQA=0;PQR=0;PRO=0;QA=11256;QR=14880;RO=507;RPL=86;RPP=331.871;RPPR=406.677;RPR=340;RUN=1;SAF=301;SAP=160.906;SAR=125;SF=0;SRF=317;SRP=72.0905;SRR=190;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon4:c.G698A:p.R233H,JUP:NM_021991:exon4:c.G698A:p.R233H;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_pred=L;FATHMM_score=0.66;FATHMM_pred=T;PROVEAN_score=-3.33;PROVEAN_pred=D;VEST3_score=0.625;CADD_raw=7.378;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.905;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.113;MetaSVM_pred=T;MetaLR_score=0.458;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=5.41;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=18.375;GDI_full_10282015=.;dpsi_max_tissue=-0.0286;dpsi_zscore=-0.157;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-568.82,0,-834.755:984:507:426:11256:14880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 39925383 . G A 9862.05 . AB=0.449722;ABP=38.6018;AC=1;AF=0.5;AN=2;AO=729;CIGAR=1X;DP=1621;DPB=1621;DPRA=0;EPP=9.04217;EPPR=14.2405;GTI=0;LEN=1;MEANALT=3;MQM=33.0631;MQMR=33.2399;NS=1;NUMALT=1;ODDS=2270.82;PAIRED=0.902606;PAIREDR=0.89899;PAO=0;PQA=0;PQR=0;PRO=0;QA=18866;QR=23622;RO=792;RPL=271;RPP=107.172;RPPR=3.28448;RPR=458;RUN=1;SAF=317;SAP=29.8931;SAR=412;SF=0;SRF=377;SRP=6.9694;SRR=415;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon4:c.C545T:p.S182L,JUP:NM_021991:exon4:c.C545T:p.S182L;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs145592971;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.457e-05;ExAC_AFR=0.0004;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=55018;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.3;MutationAssessor_pred=M;FATHMM_score=-0.31;FATHMM_pred=T;PROVEAN_score=-5.26;PROVEAN_pred=D;VEST3_score=0.918;CADD_raw=6.684;CADD_phred=32;DANN_score=0.999;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=0.018;MetaSVM_pred=D;MetaLR_score=0.507;MetaLR_pred=D;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=5.79;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.946;SiPhy_29way_logOdds=19.029;GDI_full_10282015=.;dpsi_max_tissue=-0.0161;dpsi_zscore=-0.079;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.678e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.709e-05;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1008.86,0,-1324.63:1621:792:729:18866:23622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 39925713 . C T 10910.35 . AB=0.460501;ABP=17.0768;AC=25;AF=0.5;AN=44;AO=478;CIGAR=1X;DP=31665;DPB=1038;DPRA=0;EPP=59.9956;EPPR=27.7832;GTI=0;LEN=1;MEANALT=3;MQM=31.1046;MQMR=32.1083;NS=1;NUMALT=1;ODDS=1444.22;PAIRED=0.884937;PAIREDR=0.8625;PAO=0;PQA=0;PQR=0;PRO=0;QA=12839;QR=14202;RO=480;RPL=104;RPP=334.183;RPPR=378.241;RPR=374;RUN=1;SAF=323;SAP=131.227;SAR=155;SF=0,1;SRF=313;SRP=99.4418;SRR=167;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.G425A:p.R142H,JUP:NM_021991:exon3:c.G425A:p.R142H;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.0422;esp6500siv2_ea=0.0581;esp6500siv2_all=0.0422;esp6500siv2_ea=0.0581;1000g2015aug_all=0.0239617;avsnp147=rs41283425;Kaviar_AF=0.0426062;Kaviar_AC=6587;Kaviar_AN=154602;ExAC_ALL=0.0497;ExAC_AFR=0.0091;ExAC_AMR=0.0306;ExAC_EAS=0.0003;ExAC_FIN=0.0790;ExAC_NFE=0.0630;ExAC_OTH=0.0620;ExAC_SAS=0.0497;CLNALLELEID=55016;CLNDN=Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.235;MutationAssessor_pred=M;FATHMM_score=-0.11;FATHMM_pred=T;PROVEAN_score=-3.95;PROVEAN_pred=D;VEST3_score=0.773;CADD_raw=7.586;CADD_phred=34;DANN_score=1.000;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.562;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.52;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.885;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=18.433;GDI_full_10282015=.;dpsi_max_tissue=-0.3775;dpsi_zscore=-0.956;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150229#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0438;gnomAD_exome_AFR=0.0067;gnomAD_exome_AMR=0.0263;gnomAD_exome_ASJ=0.0663;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0567;gnomAD_exome_NFE=0.0563;gnomAD_exome_OTH=0.0529;gnomAD_exome_SAS=0.0430;gnomAD_genome_ALL=0.0451;gnomAD_genome_AFR=0.0072;gnomAD_genome_AMR=0.0334;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0636;gnomAD_genome_NFE=0.0671;gnomAD_genome_OTH=0.0562;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-688.302,0,-770.677:1038:480:478:12839:14202 . 0/1:-841.418,0,-1100.98:1339:657:587:15779:19434 . 0/1:-718.919,0,-1190.52:1363:701:569:15170:21175 . . . . . . . . 0/1:-729.613,0,-834.747:1167:537:526:14372:15872 . . 0/1:-724.717,0,-885.359:1105:522:495:13776:15626 . . . . . 0/1:-499.292,0,-818.305:932:476:379:10437:14536 0/1:-973.724,0,-1548.98:1796:905:729:19743:27144 . . . . . . . . . . . . . . . . 0/1:-864.91,0,-1382.48:1532:805:636:17237:24463 . . . 1/1:-2646.03,-344.76,0:1571:43:1359:36467:1005 . . . 0/1:-637.932,0,-762.051:992:481:439:11964:14112 . . . . . . . . . . 0/1:-949.541,0,-1293.49:1598:782:688:18570:23403 0/1:-582.276,0,-858.554:998:509:411:11175:15279 . 1/1:-2272.24,-315.709,0:1383:25:1152:30764:551 . . . . . . . . . . . . 0/1:-1019.53,0,-1276.23:1641:793:717:19218:23259 . . . . . . 0/1:-856.904,0,-1307.13:1678:833:691:17793:24147 0/1:-762.855,0,-1007.5:1276:611:544:14699:18171 . . . . . 0/1:-841.906,0,-985.47:1275:595:576:15523:17573 . 0/1:-765.498,0,-1030.71:1291:637:552:15077:18829 . . . . 0/1:-1718.57,0,-1911.59:2032:974:942:27402:29820:974,942 . . . . 0/1:-1744.3,0,-1772.46:1923:912:929:27159:28214:912,929 . . . . . . 1/1:-3540.39,-408.069,0:1643:21:1491:43001:566:21,1491 . 0/1:-1774.73,0,-2104.42:2092:1025:967:28001:32132:1025,967 . . . . . chr17 39925726 . C T 3088.44 . AB=0.367662;ABP=150.717;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X;DP=971;DPB=971;DPRA=0;EPP=10.4614;EPPR=35.9482;GTI=0;LEN=1;MEANALT=3;MQM=26.2381;MQMR=29.4032;NS=1;NUMALT=1;ODDS=711.141;PAIRED=0.829132;PAIREDR=0.849462;PAO=0;PQA=0;PQR=0;PRO=0;QA=9069;QR=15699;RO=558;RPL=145;RPP=30.3149;RPPR=83.705;RPR=212;RUN=1;SAF=240;SAP=95.0333;SAR=117;SF=0;SRF=348;SRP=77.1206;SRR=210;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.G412A:p.E138K,JUP:NM_021991:exon3:c.G412A:p.E138K;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs150245906;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.927e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.428e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.965;MutationAssessor_pred=M;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-3.16;PROVEAN_pred=D;VEST3_score=0.943;CADD_raw=7.255;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.075;MetaSVM_pred=T;MetaLR_score=0.466;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.52;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.972;phastCons20way_mammalian=0.699;SiPhy_29way_logOdds=18.433;GDI_full_10282015=.;dpsi_max_tissue=-0.1016;dpsi_zscore=-0.454;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1616385#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=2.481e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.479e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.698e-05;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.672e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-339.053,0,-849.484:971:558:357:9069:15699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 39925733 . G A 9706.88 . AB=0.443079;ABP=55.6653;AC=1;AF=0.5;AN=2;AO=829;CIGAR=1X;DP=1871;DPB=1871;DPRA=0;EPP=10.9339;EPPR=52.6595;GTI=0;LEN=1;MEANALT=3;MQM=31.5706;MQMR=31.0261;NS=1;NUMALT=1;ODDS=2235.09;PAIRED=0.868516;PAIREDR=0.86952;PAO=0;PQA=0;PQR=0;PRO=0;QA=20463;QR=28513;RO=958;RPL=282;RPP=186.957;RPPR=65.4707;RPR=547;RUN=1;SAF=501;SAP=81.406;SAR=328;SF=0;SRF=603;SRP=142.42;SRR=355;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.C405T:p.D135D,JUP:NM_021991:exon3:c.C405T:p.D135D;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.0357;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0357;esp6500siv2_ea=0.0002;1000g2015aug_all=0.0271565;avsnp147=rs17850807;Kaviar_AF=0.0094371;Kaviar_AC=1459;Kaviar_AN=154602;ExAC_ALL=0.0113;ExAC_AFR=0.1216;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0042;ExAC_SAS=6.959e-05;CLNALLELEID=55015;CLNDN=Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7017;dpsi_zscore=-1.271;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0080;gnomAD_exome_AFR=0.1109;gnomAD_exome_AMR=0.0067;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0313;gnomAD_genome_AFR=0.1094;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-1008.49,0,-1538.99:1871:958:829:20463:28513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 39925888 . G A 9312.18 . AB=0.441558;ABP=39.5587;AC=1;AF=0.5;AN=2;AO=544;CIGAR=1X;DP=1232;DPB=1232;DPRA=0;EPP=24.8687;EPPR=5.62943;GTI=0;LEN=1;MEANALT=3;MQM=37.546;MQMR=38.1785;NS=1;NUMALT=1;ODDS=2144.21;PAIRED=0.952206;PAIREDR=0.944615;PAO=0;PQA=0;PQR=0;PRO=0;QA=15995;QR=20740;RO=650;RPL=290;RPP=8.18351;RPPR=36.4176;RPR=254;RUN=1;SAF=141;SAP=277.015;SAR=403;SF=1;SRF=174;SRP=307.698;SRR=476;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.C250T:p.R84W,JUP:NM_021991:exon3:c.C250T:p.R84W;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs782306414;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.114e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.914e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.34;MutationAssessor_pred=M;FATHMM_score=0.83;FATHMM_pred=T;PROVEAN_score=-5.99;PROVEAN_pred=D;VEST3_score=0.852;CADD_raw=6.000;CADD_phred=27.8;DANN_score=0.999;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.508;MetaSVM_pred=T;MetaLR_score=0.283;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=3.78;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.112;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.982;SiPhy_29way_logOdds=12.437;GDI_full_10282015=.;dpsi_max_tissue=-0.0543;dpsi_zscore=-0.284;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.308e-05;gnomAD_exome_AFR=7.049e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.926e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.676e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-972.518,0,-1361.38:1232:650:544:15995:20740:650,544 . . . . . . . chr17 39925925 . AT GT 14812.35 . AB=0;ABP=0;AC=185;AF=1;AN=222;AO=735;CIGAR=1X;DP=106915;DPB=747;DPRA=0;EPP=34.3534;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=30.0054;MQMR=24;NS=1;NUMALT=1;ODDS=1010.4;PAIRED=0.854422;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=21164;QR=41;RO=2;RPL=581;RPP=541.68;RPPR=7.35324;RPR=154;RUN=1;SAF=178;SAP=427.381;SAR=557;SF=0,1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.7956;esp6500siv2_ea=0.7552;esp6500siv2_all=0.7956;esp6500siv2_ea=0.7552;1000g2015aug_all=0.715655;avsnp147=rs7405731;Kaviar_AF=0.691272;Kaviar_AC=106872;Kaviar_AN=154602;ExAC_ALL=0.7364;ExAC_AFR=0.8888;ExAC_AMR=0.5461;ExAC_EAS=0.5325;ExAC_FIN=0.7068;ExAC_NFE=0.7622;ExAC_OTH=0.7446;ExAC_SAS=0.7603;CLNALLELEID=55010;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1610;dpsi_zscore=0.642;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7109;gnomAD_exome_AFR=0.8884;gnomAD_exome_AMR=0.5214;gnomAD_exome_ASJ=0.8254;gnomAD_exome_EAS=0.5099;gnomAD_exome_FIN=0.6806;gnomAD_exome_NFE=0.7581;gnomAD_exome_OTH=0.7264;gnomAD_exome_SAS=0.7585;gnomAD_genome_ALL=0.7654;gnomAD_genome_AFR=0.8828;gnomAD_genome_AMR=0.5632;gnomAD_genome_ASJ=0.8278;gnomAD_genome_EAS=0.5056;gnomAD_genome_FIN=0.6822;gnomAD_genome_NFE=0.7567;gnomAD_genome_OTH=0.7305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:747:2:735:21164:41 0/1:.,.,-696.255:1012:435:523:14411:13010 1/1:.,.,0:795:1:786:22165:14 1/1:.,.,0:558:1:549:15290:14 1/1:.,.,0:863:10:837:23675:306 1/1:.,.,0:1328:13:1293:37477:352 1/1:.,.,0:790:7:771:21765:155 1/1:.,.,0:1060:9:1027:28959:219 0/1:.,.,-615.656:923:393:492:13871:11766 0/1:.,.,-726.516:1104:465:593:16488:13811 0/1:.,.,-613.349:789:381:373:10364:11318 0/1:.,.,-543.158:874:359:473:13488:10512 1/1:.,.,0:892:4:877:24847:100 1/1:.,.,0:840:2:824:22682:50 1/1:.,.,0:728:6:708:20636:181 1/1:.,.,0:1311:8:1283:36924:191 1/1:.,.,0:748:6:725:20398:142 0/1:.,.,-1602.32:2101:989:1030:28733:29533 0/1:.,.,-654.838:805:398:376:10741:12029 1/1:.,.,0:755:2:733:21275:50 0/1:.,.,-484.71:686:309:362:10053:9035 0/1:.,.,-651.949:964:425:497:14005:12650 1/1:.,.,0:635:3:621:17578:42 0/1:.,.,-786.424:1153:494:606:17318:14780 0/1:.,.,-793.412:1098:530:509:14336:15444 0/1:.,.,-560.756:802:364:408:11271:10898 0/1:.,.,-774.683:994:464:488:13461:14002 0/1:.,.,-529.24:765:336:391:11192:10114 1/1:.,.,0:787:9:766:21982:239 1/1:.,.,0:770:5:756:21867:149 1/1:.,.,0:795:1:779:22023:14 . 1/1:.,.,0:1076:5:1052:30301:123 1/1:.,.,0:1042:8:1010:27952:262 1/1:.,.,0:895:10:871:24504:224 1/1:.,.,0:1111:7:1083:30523:226 1/1:.,.,0:1336:4:1307:37210:96 1/1:.,.,0:777:3:759:22362:64 . 1/1:.,.,0:777:2:767:21737:46 1/1:.,.,0:1050:3:1027:29939:95 1/1:.,.,0:1078:1:1056:29471:21 1/1:.,.,0:948:4:927:26478:122 1/1:.,.,0:813:6:797:22473:146 1/1:.,.,0:1045:4:1020:29560:96 0/1:.,.,-734.217:970:458:469:12993:13634 1/1:.,.,0:1019:2:997:28142:50 1/1:.,.,0:637:4:627:18137:96 0/1:.,.,-435.916:652:283:337:9651:8283 1/1:.,.,0:1075:11:1041:29678:316 1/1:.,.,0:1109:7:1082:30676:160 0/1:.,.,-788.922:1012:514:458:13138:14803 0/1:.,.,-823.206:1084:491:562:16240:14882 1/1:.,.,0:1136:6:1110:31548:119 1/1:.,.,0:759:1:750:20588:14 1/1:.,.,0:716:3:699:19712:77 0/1:.,.,-759.543:1028:464:526:14853:13922 1/1:.,.,0:565:1:549:15128:36 1/1:.,.,0:677:3:658:18520:108 0/1:.,.,-805.876:1103:518:532:15071:15433 0/1:.,.,-519.863:665:324:309:8637:9709 1/1:.,.,0:1165:13:1134:32036:354 1/1:.,.,0:983:3:970:27401:86 1/1:.,.,0:630:1:616:16772:36 0/1:.,.,-944.207:1131:561:524:15336:16699 0/1:.,.,-818.83:1042:492:511:14225:14545 1/1:.,.,0:522:2:512:14274:50 . 0/1:.,.,-797.776:981:481:464:13298:14521 1/1:.,.,0:965:6:934:26463:159 0/1:.,.,-767.823:968:482:437:12421:14258 0/1:.,.,-783.744:1167:500:628:17941:14846 1/1:.,.,0:1074:6:1037:28963:150 1/1:.,.,0:649:5:627:16781:106 0/1:.,.,-467.432:757:313:412:12017:9244 0/1:.,.,-898.006:1193:574:564:15961:17056 0/1:.,.,-867.857:1171:557:570:16224:16549 0/1:.,.,-766.454:1154:506:598:17335:14488 0/1:.,.,-451.22:609:284:287:7841:8410 0/1:.,.,-365.881:547:239:289:8459:7072 1/1:.,.,0:1071:7:1046:29573:182 1/1:.,.,0:1137:7:1113:31038:120 1/1:.,.,0:1082:1:1063:30050:14 1/1:.,.,0:938:9:909:25805:245 1/1:.,.,0:879:9:852:24232:236 1/1:.,.,0:914:3:891:25677:64 0/1:.,.,-499.26:673:306:328:9245:9137 . 1/1:.,.,0:607:3:589:16815:60 1/1:.,.,0:885:8:858:24388:204 1/1:.,.,0:1140:18:1108:32343:547 1/1:.,.,0:997:1:980:27568:14 1/1:.,.,0:1214:5:1189:34708:105 0/1:.,.,-801.066:1101:512:537:14760:15441 1/1:.,.,0:1173:0:1148:32771:0 . 1/1:.,.,0:1452:2:1424:44399:28:2,1424 1/1:-2557.17,-291.554,0:1060:1:970:29391:36:1,970 1/1:-2895.74,-322.23,0:1201:4:1106:33474:135:4,1106 1/1:-1835.26,-210.119,0:777:0:698:21166:0:0,698 1/1:-2373.75,-270.443,0:1005:2:905:27382:49:2,905 1/1:-2836.56,-321.41,0:1178:4:1080:32861:125:4,1080 1/1:-2463.86,-278.488,0:1059:3:942:28471:91:3,942 1/1:-2797.61,-324.668,0:1203:1:1084:32269:36:1,1084 1/1:-2589.06,-291.761,0:1079:3:985:29887:84:3,985 0/1:.,.,-1298.32:1306:629:651:20394:20148:629,651 0/1:.,.,-1110.35:1149:554:572:17702:17452:554,572 1/1:-1956.9,-222.024,0:815:1:742:22643:25:1,742 1/1:-2283.07,-266.673,0:985:2:895:26521:50:2,895 1/1:.,.,0:952:0:942:29452:0:0,942 0/1:.,.,-1252.99:1249:618:597:18866:19314:618,597 1/1:-2484,-272.047,0:1083:10:963:28898:289:10,963 1/1:-2611.01,-295.15,0:1080:2:990:30131:70:2,990 1/1:-2226.34,-250.904,0:926:2:836:25653:50:2,836 1/1:-2259.2,-257.242,0:934:2:863:26063:70:2,863 1/1:-2985.23,-295.298,0:1276:22:1154:35095:728:22,1154 chr17 48243384 . G A 1768.02 . AB=0.426554;ABP=19.5969;AC=1;AF=0.5;AN=2;AO=151;CIGAR=1X;DP=354;DPB=354;DPRA=0;EPP=3.13973;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=28.5762;MQMR=28.691;NS=1;NUMALT=1;ODDS=407.101;PAIRED=0.834437;PAIREDR=0.831461;PAO=0;PQA=0;PQR=0;PRO=0;QA=4158;QR=5292;RO=178;RPL=80;RPP=4.17513;RPPR=3.20549;RPR=71;RUN=1;SAF=72;SAP=3.71495;SAR=79;SF=0;SRF=78;SRP=8.91475;SRR=100;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=SGCA;GeneDetail.refGene=NM_001135697:c.-18G>A,NM_000023:c.-18G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs115380008;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=2.492e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.542e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=329101;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.055e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.672e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-184.403,0,-254.799:354:178:151:4158:5292 . . . . . . . . . . . . . . . . . . . . . . . chr17 48243461 . G A 745.93 . AB=0.440367;ABP=6.37708;AC=15;AF=0.5;AN=30;AO=48;CIGAR=1X;DP=2398;DPB=109;DPRA=0;EPP=3.19126;EPPR=4.40625;GTI=0;LEN=1;MEANALT=3;MQM=24.125;MQMR=26.5893;NS=1;NUMALT=1;ODDS=75.3051;PAIRED=0.75;PAIREDR=0.982143;PAO=0;PQA=0;PQR=0;PRO=0;QA=1281;QR=1658;RO=56;RPL=40;RPP=49.335;RPPR=59.0033;RPR=8;RUN=1;SAF=15;SAP=17.6677;SAR=33;SF=0,1;SRF=22;SRP=8.59409;SRR=34;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=0.0457;esp6500siv2_ea=0.0627;esp6500siv2_all=0.0457;esp6500siv2_ea=0.0627;1000g2015aug_all=0.0283546;avsnp147=rs79410682;Kaviar_AF=0.0529941;Kaviar_AC=8193;Kaviar_AN=154602;ExAC_ALL=0.0544;ExAC_AFR=0.0096;ExAC_AMR=0.0326;ExAC_EAS=0.0006;ExAC_FIN=0.0791;ExAC_NFE=0.0694;ExAC_OTH=0.0776;ExAC_SAS=0.0546;CLNALLELEID=256266;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0538;gnomAD_exome_AFR=0.0088;gnomAD_exome_AMR=0.0329;gnomAD_exome_ASJ=0.0543;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0756;gnomAD_exome_NFE=0.0692;gnomAD_exome_OTH=0.0544;gnomAD_exome_SAS=0.0581;gnomAD_genome_ALL=0.0499;gnomAD_genome_AFR=0.0095;gnomAD_genome_AMR=0.0275;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0819;gnomAD_genome_NFE=0.0713;gnomAD_genome_OTH=0.0622;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-45.1868,0,-77.5311:109:56:48:1281:1658 . . . . . . . . 0/1:-60.3416,0,-111.875:135:76:54:1394:2111 . 0/1:-121.566,0,-113.029:191:86:93:2403:2576 . . . . . . . . . . . 0/1:-65.2777,0,-112.33:156:85:66:1662:2505 . 0/1:-131.687,0,-91.107:175:67:96:2464:2011 . . . . . . . . . . 0/1:-98.001,0,-117.821:170:81:80:2028:2594 . . . . 0/1:-86.7648,0,-162.584:211:115:79:2101:3428 . . . . . 0/1:-73.637,0,-103.275:135:66:60:1551:2065 . . . . . . . . . 0/1:-100.913,0,-130.884:190:100:83:2241:3125 . . . . . . . 0/1:-76.2216,0,-107.175:157:80:64:1692:2407 . . . . . . . . . . . . . 0/1:-122.681,0,-72.3392:104:39:59:1834:1233:39,59 . 0/1:-142.232,0,-187.715:187:94:86:2446:3035:94,86 0/1:-113.154,0,-224.425:178:104:69:2023:3260:104,69 . . . . . . . . 0/1:-151.401,0,-142.65:163:69:89:2469:2267:69,89 . 0/1:-62.6681,0,-185.334:137:88:44:1290:2720:88,44 . . chr17 48243502 . GAC GAT,TAC 304.11 . AB=0;ABP=0;AC=2,0;AF=1;AN=6;AO=46;CIGAR=2M1X;DP=184;DPB=55;DPRA=0;EPP=3.76559;EPPR=0;GTI=0;LEN=1;MEANALT=6;MQM=35.9565;MQMR=0;NS=1;NUMALT=1;ODDS=72.5336;PAIRED=1;PAIREDR=0;PAO=1.5;PQA=48;PQR=48;PRO=1.5;QA=1230;QR=0;RO=0;RPL=35;RPP=30.2009;RPPR=0;RPR=11;RUN=1;SAF=10;SAP=34.9215;SAR=36;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-100.197,-15.6536,0,.,.,.:53:0:46,.:1230,.:0:0,46 0/0:.,.,.,.,.,-109.579:52:48:.,4:.,84:1507:48,4 . . . . 0/0:.,.,.,.,.,-187.538:79:74:.,4:.,78:2357:74,4 . . . . . . . . . . chr17 48243503 . AC AT,CC 551.72 . AB=0;ABP=0;AC=2,0;AF=0;AN=6;AO=3;CIGAR=1X;DP=199;DPB=52;DPRA=0;EPP=3.73412;EPPR=12.9813;GTI=0;LEN=1;MEANALT=1;MQM=13.3333;MQMR=35.7143;NS=1;NUMALT=1;ODDS=61.331;PAIRED=1;PAIREDR=0.897959;PAO=0;PQA=0;PQR=0;PRO=0;QA=68;QR=1519;RO=49;RPL=2;RPP=3.73412;RPPR=45.5977;RPR=1;RUN=1;SAF=1;SAP=3.73412;SAR=2;SF=1;SRF=8;SRP=51.2702;SRR=41;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-120.958:52:49:.,3:.,68:1519:49,3 . . 0/0:.,.,.,.,.,-178.412:84:78:.,5:.,99:2311:78,5 . . . . . . . . . 1/1:-127.474,-18.3628,0,.,.,.:63:0:57,.:1561,.:0:0,57 . . chr17 48243504 . C T 1139.48 . AB=0;ABP=0;AC=226;AF=1;AN=226;AO=70;CIGAR=1X;DP=9025;DPB=80;DPRA=0;EPP=7.47733;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=26.2571;MQMR=0;NS=1;NUMALT=1;ODDS=100.036;PAIRED=0.942857;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1843;QR=0;RO=0;RPL=51;RPP=34.7758;RPPR=0;RPR=19;RUN=1;SAF=12;SAP=68.6508;SAR=58;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=0.9888;esp6500siv2_ea=0.9997;esp6500siv2_all=0.9888;esp6500siv2_ea=0.9997;1000g2015aug_all=0.988618;avsnp147=rs9911548;Kaviar_AF=0.944212;Kaviar_AC=145977;Kaviar_AN=154602;ExAC_ALL=0.9974;ExAC_AFR=0.9717;ExAC_AMR=0.9991;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9978;ExAC_SAS=0.9999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9977;gnomAD_exome_AFR=0.9682;gnomAD_exome_AMR=0.9988;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9974;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9917;gnomAD_genome_AFR=0.9716;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-124.274,-21.0721,0:80:0:70:1843:0 1/1:-184.681,-29.2029,0:106:2:100:2626:28 1/1:-111.273,-20.5136,0:85:2:75:1846:59 1/1:-78.6235,-14.7505,0:53:0:49:1094:0 1/1:-125.08,-20.169,0:76:0:67:1837:0 1/1:-189.742,-31.0061,0:111:0:103:2762:0 1/1:-80.2062,-16.8577,0:65:0:56:1463:0 1/1:-169.157,-27.3816,0:108:1:94:2473:14 1/1:-125.443,-18.3628,0:66:0:61:1698:0 1/1:-114.978,-19.607,0:75:2:68:1750:35 1/1:-135.094,-23.7814,0:88:0:79:2150:0 1/1:-113.537,-17.7608,0:65:0:59:1649:0 1/1:-117.729,-21.0721,0:78:0:70:1781:0 1/1:-100.718,-17.4429,0:69:1:61:1694:14 1/1:-74.6411,-13.5464,0:53:0:45:1105:0 1/1:-181.413,-30.898,0:114:1:104:2957:27 1/1:-83.3416,-14.1484,0:53:0:47:1184:0 1/1:-315.576,-50.6243,0:184:1:168:4443:14 1/1:-142.695,-25.5876,0:97:0:85:2174:0 1/1:-104.67,-17.7608,0:66:0:59:1650:0 1/1:-74.6039,-13.2453,0:49:0:44:1233:0 1/1:-150.922,-24.9855,0:91:0:83:2206:0 1/1:-42.7664,-7.3735,0:36:1:30:788:27 1/1:-143.236,-24.9855,0:92:0:83:2174:0 1/1:-181.993,-28.0511,0:101:1:93:2650:14 1/1:-72.5497,-11.325,0:53:3:45:1246:42 1/1:-154.919,-23.7814,0:93:0:79:2243:0 1/1:-149.377,-23.7246,0:94:1:82:2180:14 1/1:-85.3908,-15.659,0:67:2:53:1377:28 1/1:-150.368,-24.6434,0:91:1:83:2128:14 1/1:-126.131,-18.9433,0:71:1:66:1766:14 1/1:-143.815,-25.2668,0:101:1:87:2249:14 1/1:-132.394,-21.3731,0:81:0:71:1937:0 1/1:-179.301,-30.0992,0:112:2:103:2645:28 1/1:-99.3125,-16.2556,0:59:0:54:1366:0 1/1:-143.506,-24.3834,0:83:0:81:2130:0 1/1:-187.923,-31.9092,0:124:0:106:2896:0 1/1:-114.516,-17.4597,0:64:0:58:1705:0 1/1:-114.194,-20.7295,0:89:1:70:1729:14 1/1:-142.795,-22.5773,0:80:0:75:2009:0 1/1:-141.308,-22.8659,0:90:1:79:2081:14 1/1:-118.132,-19.567,0:73:0:65:1736:0 1/1:-131.102,-20.443,0:77:1:71:1963:14 1/1:-133.947,-22.7649,0:88:1:77:2070:27 1/1:-137.999,-22.8783,0:87:0:76:2102:0 1/1:-170.827,-23.4418,0:93:2:84:2347:28 1/1:-160.868,-25.5876,0:94:0:85:2363:0 1/1:-78.8754,-12.3905,0:48:1:41:1119:14 1/1:-95.546,-14.2817,0:63:2:53:1390:46 1/1:-139.732,-25.2865,0:91:0:84:2108:0 1/1:-165.19,-26.7917,0:97:0:89:2294:0 1/1:-116.991,-19.868,0:73:0:66:1831:0 1/1:-144.662,-23.4246,0:87:1:81:2127:14 1/1:-189.74,-32.7998,0:126:1:112:2814:14 1/1:-61.4561,-10.8066,0:44:1:39:1007:14 1/1:-139.61,-23.4452,0:84:1:79:2078:14 1/1:-161.981,-26.1896,0:91:0:87:2269:0 1/1:-63.6545,-12.8284,0:47:1:44:1184:32 1/1:-96.7156,-15.7006,0:58:1:52:1420:32 1/1:-118.367,-20.4568,0:84:1:71:1778:14 1/1:-63.3204,-12.3422,0:45:0:41:1163:0 1/1:-162.513,-26.1449,0:103:3:89:2365:55 1/1:-132.833,-21.335,0:81:1:72:2001:14 1/1:-85.2923,-15.9546,0:61:0:53:1441:0 1/1:-171.384,-27.9592,0:109:2:99:2610:28 1/1:-153.778,-24.6282,0:102:1:85:2312:14 1/1:-52.3207,-8.42884,0:28:0:28:789:0 1/1:-80.7023,-12.0292,0:49:1:43:1180:14 1/1:-156.132,-27.3559,0:99:1:92:2370:14 1/1:-149.027,-27.0463,0:102:2:94:2460:28 1/1:-115.943,-18.9514,0:80:1:66:1639:14 1/1:-166.103,-26.4906,0:98:0:88:2317:0 1/1:-205.83,-30.1724,0:108:2:103:2994:63 1/1:-55.0843,-9.93399,0:41:0:33:903:0 1/1:-128.623,-16.6085,0:76:4:68:1894:76 1/1:-159.048,-29.7278,0:109:2:101:2512:28 1/1:-122.027,-19.0007,0:75:2:70:1748:46 1/1:-135.124,-22.7166,0:90:2:80:2065:42 1/1:-69.8754,-12.3422,0:42:0:41:1046:0 1/1:-48.1228,-7.22472,0:29:0:24:695:0 1/1:-143.128,-22.6128,0:87:2:78:2034:28 1/1:-131.635,-20.7133,0:87:1:72:1934:14 1/1:-158.464,-25.8892,0:97:2:87:2457:46 1/1:-108.866,-17.1458,0:67:1:60:1621:14 1/1:-117.237,-20.7711,0:75:0:69:1760:0 1/1:-143.61,-25.2853,0:96:2:87:2195:28 1/1:-74.7587,-13.8474,0:51:0:46:1244:0 1/1:-131.462,-23.7423,0:94:1:80:2038:14 1/1:-76.1332,-13.2453,0:46:0:44:1090:0 1/1:-102.518,-19.567,0:71:0:65:1636:0 1/1:-162.663,-28.8782,0:111:2:99:2533:46 1/1:-110.992,-16.4224,0:68:3:63:1684:67 1/1:-180.448,-30.0003,0:117:3:102:2752:60 1/1:-150.101,-26.4906,0:99:0:88:2264:0 1/1:-139.159,-22.9352,0:86:1:76:2061:14 . 1/1:-183.914,-22.8703,0:83:1:79:2230:14:1,79 1/1:-183.488,-23.4803,0:82:0:78:2312:0:0,78 1/1:-160.639,-21.3731,0:76:0:71:2024:0:0,71 . 1/1:-116.084,-15.0515,0:52:0:50:1450:0:0,50 1/1:-204.052,-27.0927,0:91:0:90:2504:0:0,90 1/1:-182.226,-22.5773,0:76:0:75:2212:0:0,75 1/1:-175.388,-22.8584,0:82:1:77:2178:14:1,77 1/1:-202.414,-26.4906,0:91:0:88:2626:0:0,88 1/1:-157.623,-18.1926,0:75:1:70:1986:36:1,70 1/1:-181.872,-24.0296,0:89:1:83:2298:14:1,83 1/1:-137.16,-18.6639,0:70:0:62:1768:0:0,62 1/1:-101.148,-12.3931,0:50:2:48:1325:28:2,48 1/1:-148.979,-19.2218,0:69:1:67:1950:14:1,67 1/1:-147.303,-20.47,0:72:0:68:1862:0:0,68 1/1:-145.154,-17.0635,0:71:2:61:1868:28:2,61 1/1:-153.197,-19.567,0:68:0:65:1859:0:0,65 . 1/1:-101.981,-13.8474,0:48:0:46:1217:0:0,46 1/1:-169.096,-23.7814,0:83:0:79:2144:0:0,79 chr17 48244781 . A G 6959.55 . AB=0.444895;ABP=35.5578;AC=1;AF=0.5;AN=2;AO=549;CIGAR=1X;DP=1234;DPB=1234;DPRA=0;EPP=27.6955;EPPR=18.1747;GTI=0;LEN=1;MEANALT=3;MQM=29.2295;MQMR=33.7025;NS=1;NUMALT=1;ODDS=1602.5;PAIRED=0.876138;PAIREDR=0.85124;PAO=0;PQA=0;PQR=0;PRO=0;QA=14603;QR=16569;RO=605;RPL=255;RPP=9.02635;RPPR=70.3762;RPR=294;RUN=1;SAF=338;SAP=66.8057;SAR=211;SF=0;SRF=357;SRP=45.6537;SRR=248;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon2:c.A90G:p.P30P,SGCA:NM_001135697:exon2:c.A90G:p.P30P;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs754840688;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.25e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1236;dpsi_zscore=0.551;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.954e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.479e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-714.078,0,-937.862:1234:605:549:14603:16569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 48244875 . G T 8475.76 . AB=0.455439;ABP=27.5883;AC=1;AF=0.5;AN=2;AO=649;CIGAR=1X;DP=1425;DPB=1425;DPRA=0;EPP=50.3912;EPPR=131.362;GTI=0;LEN=1;MEANALT=3;MQM=31.8213;MQMR=33.3681;NS=1;NUMALT=1;ODDS=1951.61;PAIRED=0.919877;PAIREDR=0.907984;PAO=0;PQA=0;PQR=0;PRO=0;QA=17208;QR=21563;RO=739;RPL=319;RPP=3.41515;RPPR=31.8095;RPR=330;RUN=1;SAF=348;SAP=10.4013;SAR=301;SF=0;SRF=329;SRP=22.2891;SRR=410;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5297;dpsi_zscore=-1.120;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-861.863,0,-1241.06:1425:739:649:17208:21563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 48245770 . C A 7547.18 . AB=0.406559;ABP=125.564;AC=1;AF=0.5;AN=2;AO=657;CIGAR=1X;DP=1616;DPB=1616;DPRA=0;EPP=23.6376;EPPR=119.916;GTI=0;LEN=1;MEANALT=3;MQM=31.7549;MQMR=32.3702;NS=1;NUMALT=1;ODDS=1737.8;PAIRED=0.896499;PAIREDR=0.905579;PAO=0;PQA=0;PQR=0;PRO=0;QA=16396;QR=26690;RO=932;RPL=281;RPP=32.8391;RPPR=11.398;RPR=376;RUN=1;SAF=376;SAP=32.8391;SAR=281;SF=0;SRF=528;SRP=38.8349;SRR=404;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon5:c.C421A:p.R141S,SGCA:NM_001135697:exon5:c.C421A:p.R141S;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.00139776;avsnp147=rs35130237;Kaviar_AF=0.0005563;Kaviar_AC=86;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0;ExAC_AMR=0.0039;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0019;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=194779;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.959;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.464;Polyphen2_HVAR_pred=P;LRT_score=0.982;LRT_pred=N;MutationTaster_score=0.979;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=-4.45;FATHMM_pred=D;PROVEAN_score=-0.46;PROVEAN_pred=N;VEST3_score=0.784;CADD_raw=2.670;CADD_phred=20.6;DANN_score=0.990;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_pred=N;MetaSVM_score=0.252;MetaSVM_pred=D;MetaLR_score=0.806;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.29;phyloP7way_vertebrate=-0.032;phyloP20way_mammalian=-1.062;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.780;SiPhy_29way_logOdds=3.664;GDI_full_10282015=.;dpsi_max_tissue=0.1652;dpsi_zscore=0.651;hgmdCODING=HGMD::Muscular_dystrophy,_limb_girdle#12746421;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM031357#"Muscular_dystrophy_limb_girdle";gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=8.543e-05;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.58e-05;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-781.36,0,-1545.73:1616:932:657:16396:26690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 48246548 . C G 11282.23 . AB=0.474515;ABP=10.8684;AC=4;AF=0.5;AN=8;AO=661;CIGAR=1X;DP=6311;DPB=1393;DPRA=0;EPP=70.188;EPPR=129.579;GTI=0;LEN=1;MEANALT=3;MQM=28.8381;MQMR=31.8147;NS=1;NUMALT=1;ODDS=1925.26;PAIRED=0.918306;PAIREDR=0.912306;PAO=0;PQA=0;PQR=0;PRO=0;QA=17851;QR=20764;RO=707;RPL=370;RPP=23.5128;RPPR=52.5487;RPR=291;RUN=1;SAF=315;SAP=6.16731;SAR=346;SF=0;SRF=355;SRP=3.03794;SRR=352;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon6:c.C680G:p.P227R;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs201131924;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=195194;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.693;SIFT_pred=T;Polyphen2_HDIV_score=0.051;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.054;Polyphen2_HVAR_pred=B;LRT_score=0.030;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.915;MutationAssessor_pred=L;FATHMM_score=-4.39;FATHMM_pred=D;PROVEAN_score=0.5;PROVEAN_pred=N;VEST3_score=0.239;CADD_raw=2.090;CADD_phred=16.79;DANN_score=0.996;fathmm-MKL_coding_score=0.778;fathmm-MKL_coding_pred=D;MetaSVM_score=0.252;MetaSVM_pred=D;MetaLR_score=0.751;MetaLR_pred=D;integrated_fitCons_score=0.659;integrated_confidence_value=0;GERP++_RS=4.1;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=7.715;GDI_full_10282015=.;dpsi_max_tissue=0.7838;dpsi_zscore=1.375;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.495e-05;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-853.31,0,-1140.44:1393:707:661:17851:20764 . . . . 0/1:-1178.41,0,-1086.56:1440:684:738:21027:19865 . 0/1:-1322.63,0,-1616.15:1824:916:881:24633:27737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1237.88,0,-1342.57:1654:793:831:22825:23541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 48247689 . C T 5897.43 . AB=0.4656;ABP=9.43438;AC=7;AF=0.5;AN=14;AO=291;CIGAR=1X;DP=6363;DPB=625;DPRA=0;EPP=3.07746;EPPR=30.6498;GTI=0;LEN=1;MEANALT=3;MQM=33.1306;MQMR=32.4735;NS=1;NUMALT=1;ODDS=928.969;PAIRED=0.924399;PAIREDR=0.910596;PAO=0;PQA=0;PQR=0;PRO=0;QA=7575;QR=8600;RO=302;RPL=154;RPP=5.16685;RPPR=3.72933;RPR=137;RUN=1;SAF=93;SAP=85.28;SAR=198;SF=0,1;SRF=102;SRP=72.066;SRR=200;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon7:c.C933T:p.V311V;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=0.0947;esp6500siv2_ea=0.0416;esp6500siv2_all=0.0947;esp6500siv2_ea=0.0416;1000g2015aug_all=0.0786741;avsnp147=rs1801191;Kaviar_AF=0.0452517;Kaviar_AC=6996;Kaviar_AN=154602;ExAC_ALL=0.0450;ExAC_AFR=0.2078;ExAC_AMR=0.0225;ExAC_EAS=0.0080;ExAC_FIN=0.0336;ExAC_NFE=0.0381;ExAC_OTH=0.0342;ExAC_SAS=0.0104;CLNALLELEID=135741;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2437;dpsi_zscore=-0.765;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0419;gnomAD_exome_AFR=0.2069;gnomAD_exome_AMR=0.0283;gnomAD_exome_ASJ=0.0467;gnomAD_exome_EAS=0.0073;gnomAD_exome_FIN=0.0325;gnomAD_exome_NFE=0.0388;gnomAD_exome_OTH=0.0429;gnomAD_exome_SAS=0.0099;gnomAD_genome_ALL=0.0845;gnomAD_genome_AFR=0.2045;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0086;gnomAD_genome_FIN=0.0335;gnomAD_genome_NFE=0.0406;gnomAD_genome_OTH=0.0458;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-419.573,0,-474.297:625:302:291:7575:8600 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-468.605,0,-460.744:775:357:375:9538:9791 0/1:-507.023,0,-783.149:933:488:400:10094:13920 . . . . . . . . 0/1:-608.922,0,-776.057:1077:532:486:12567:14757 . . . . . . . . 0/1:-455.139,0,-520.357:669:321:312:8338:9244 . . . . . . 0/1:-452.301,0,-576.076:781:389:345:9134:10906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1223.2,0,-1530.4:1503:779:687:19688:23527:779,687 . . . . . . . . . . chr17 48247699 . C T 6579.02 . AB=0.459436;ABP=19.746;AC=1;AF=0.5;AN=2;AO=538;CIGAR=1X;DP=1171;DPB=1171;DPRA=0;EPP=8.83856;EPPR=23.9358;GTI=0;LEN=1;MEANALT=3;MQM=31.5372;MQMR=32.2025;NS=1;NUMALT=1;ODDS=1514.87;PAIRED=0.944238;PAIREDR=0.925859;PAO=0;PQA=0;PQR=0;PRO=0;QA=13335;QR=15867;RO=553;RPL=261;RPP=4.04357;RPPR=9.6111;RPR=277;RUN=1;SAF=175;SAP=145.666;SAR=363;SF=0;SRF=166;SRP=194.795;SRR=387;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon7:c.C943T:p.R315W;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_pred=M;FATHMM_score=-4.6;FATHMM_pred=D;PROVEAN_score=-4.42;PROVEAN_pred=D;VEST3_score=0.904;CADD_raw=8.345;CADD_phred=35;DANN_score=0.999;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_pred=D;MetaSVM_score=1.075;MetaSVM_pred=D;MetaLR_score=0.946;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.62;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.925;phastCons20way_mammalian=0.934;SiPhy_29way_logOdds=13.996;GDI_full_10282015=.;dpsi_max_tissue=-0.0561;dpsi_zscore=-0.292;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.067e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-681.182,0,-867.079:1171:553:538:13335:15867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 48248083 . C A 5427.81 . AB=0.445676;ABP=26.1309;AC=1;AF=0.5;AN=2;AO=402;CIGAR=1X;DP=902;DPB=902;DPRA=0;EPP=59.2093;EPPR=49.6444;GTI=0;LEN=1;MEANALT=3;MQM=34.7736;MQMR=35.2842;NS=1;NUMALT=1;ODDS=1249.8;PAIRED=0.935323;PAIREDR=0.907368;PAO=0;PQA=0;PQR=0;PRO=0;QA=10342;QR=13627;RO=475;RPL=245;RPP=44.8409;RPPR=47.8158;RPR=157;RUN=1;SAF=161;SAP=37.581;SAR=241;SF=0;SRF=214;SRP=13.1088;SRR=261;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0057;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0057;1000g2015aug_all=0.00179712;avsnp147=rs147162020;Kaviar_AF=0.0018442;Kaviar_AC=48;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0969;dpsi_zscore=-0.440;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0128;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0390;gnomAD_genome_NFE=0.0155;gnomAD_genome_OTH=0.0244;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-565.216,0,-812.803:902:475:402:10342:13627 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 48252804 . T C 22544.91 . AB=0;ABP=0;AC=223;AF=1;AN=230;AO=884;CIGAR=1X;DP=124294;DPB=917;DPRA=0;EPP=31.6619;EPPR=9.04217;GTI=0;LEN=1;MEANALT=3;MQM=32.6029;MQMR=34.1111;NS=1;NUMALT=1;ODDS=1150.11;PAIRED=0.894796;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=24462;QR=267;RO=9;RPL=415;RPP=10.1732;RPPR=3.25157;RPR=469;RUN=1;SAF=409;SAP=13.7105;SAR=475;SF=0,1;SRF=4;SRP=3.25157;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=SGCA;GeneDetail.refGene=NM_001135697:c.*6T>C,NM_000023:c.*6T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=0.9049;esp6500siv2_ea=0.9589;esp6500siv2_all=0.9049;esp6500siv2_ea=0.9589;1000g2015aug_all=0.921925;avsnp147=rs2696288;Kaviar_AF=0.934264;Kaviar_AC=144439;Kaviar_AN=154602;ExAC_ALL=0.9566;ExAC_AFR=0.7952;ExAC_AMR=0.9776;ExAC_EAS=0.9998;ExAC_FIN=0.9661;ExAC_NFE=0.9620;ExAC_OTH=0.9644;ExAC_SAS=0.9894;CLNALLELEID=178065;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2055;dpsi_zscore=0.733;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9589;gnomAD_exome_AFR=0.7931;gnomAD_exome_AMR=0.9714;gnomAD_exome_ASJ=0.9531;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9673;gnomAD_exome_NFE=0.9611;gnomAD_exome_OTH=0.9561;gnomAD_exome_SAS=0.9902;gnomAD_genome_ALL=0.9157;gnomAD_genome_AFR=0.7957;gnomAD_genome_AMR=0.9582;gnomAD_genome_ASJ=0.9503;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9665;gnomAD_genome_NFE=0.959;gnomAD_genome_OTH=0.9520;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1873.41,-247.975,0:917:9:884:24462:267 1/1:-2359.51,-331.981,0:1141:1:1106:30292:14 1/1:-2097.36,-286.899,0:995:4:966:27155:74 0/1:-460.365,0,-563.655:626:315:301:8425:9344 1/1:-2113.54,-291.308,0:1023:5:984:27454:83 1/1:-2974.24,-413.003,0:1482:13:1424:38942:288 1/1:-1884.33,-262.246,0:901:1:871:24325:14 1/1:-2466.75,-342.403,0:1195:4:1142:31600:56 1/1:-2319.81,-313.03,0:1113:7:1079:30179:182 1/1:-2440.9,-325.995,0:1175:10:1133:32452:235 1/1:-1905.96,-265.609,0:929:5:896:24804:77 1/1:-2253.24,-304.322,0:1099:7:1059:29104:189 1/1:-2107.01,-280.81,0:987:4:960:27281:118 1/1:-1776.4,-247.931,0:869:4:843:23278:100 1/1:-1915.07,-258.752,0:902:4:878:24667:85 1/1:-3485.62,-469.425,0:1670:11:1600:45234:229 1/1:-1471.08,-213.374,0:740:1:712:19311:14 1/1:-5324.14,-710.86,0:2506:13:2422:68120:258 1/1:-1961.24,-268.86,0:955:8:921:25337:141 1/1:-1620.26,-226.663,0:771:1:756:21417:14 1/1:-1732.84,-238.504,0:836:3:804:22290:100 1/1:-2393.85,-328.501,0:1145:5:1106:30959:110 1/1:-1119.68,-163.393,0:577:2:553:14904:41 1/1:-2681.43,-362.314,0:1290:8:1254:34667:227 1/1:-2697.14,-359.619,0:1274:7:1240:34973:180 1/1:-1564.87,-226.017,0:784:4:756:20613:56 1/1:-2457.73,-323.591,0:1196:11:1145:31596:280 1/1:-1946.46,-260.995,0:899:2:874:24367:48 0/1:-522.864,0,-632.084:783:384:369:9799:11214 0/1:-599.623,0,-780.836:846:435:377:10903:13129 1/1:-1776.25,-242.507,0:840:3:815:22880:42 1/1:-2655.37,-356.742,0:1232:5:1197:33895:88 1/1:-2531.98,-340.09,0:1227:11:1180:32985:320 1/1:-2410.69,-337.658,0:1166:3:1132:30446:64 1/1:-2290.9,-302.502,0:1050:4:1020:28947:69 1/1:-2437.85,-323.571,0:1171:9:1131:31735:254 1/1:-3100.09,-426.506,0:1471:2:1421:39497:28 1/1:-2097.12,-280.598,0:966:4:936:26351:56 0/1:-738.767,0,-845.823:1016:496:477:13213:14633 1/1:-1696.51,-235.317,0:817:3:791:21937:42 1/1:-2558.96,-348.006,0:1194:3:1162:32402:49 1/1:-2104.36,-282.806,0:1025:8:974:27049:165 1/1:-2225.31,-299.045,0:1044:3:1003:28260:49 1/1:-2091.49,-283.069,0:970:2:943:26731:42 1/1:-2787.79,-390.996,0:1349:1:1300:35931:14 1/1:-2597.07,-364.597,0:1250:6:1216:33163:84 1/1:-2385.61,-334.132,0:1163:1:1113:31067:14 0/1:-455.86,0,-557.72:624:318:287:7949:9340 1/1:-1768.71,-243.943,0:851:3:818:22870:49 1/1:-2539.45,-356.399,0:1221:1:1187:32413:14 1/1:-2862.92,-386.642,0:1336:4:1297:35972:96 1/1:-1940.67,-279.622,0:977:3:944:25646:86 1/1:-2823.76,-381.978,0:1328:6:1284:36140:97 1/1:-3033.04,-419.638,0:1448:5:1412:39160:83 0/1:-503.109,0,-626.147:756:379:352:9569:11091 1/1:-1835.61,-255.14,0:885:4:860:23258:56 1/1:-2539.27,-345.822,0:1186:2:1153:32421:28 1/1:-1087.3,-156.145,0:553:3:528:14407:42 1/1:-1603.5,-220.956,0:757:0:734:20573:0 1/1:-2306.73,-321.253,0:1113:1:1073:29820:36 1/1:-1415.54,-202.783,0:708:3:681:18618:42 1/1:-2826.63,-394.006,0:1360:4:1321:36202:81 1/1:-2276.19,-314.289,0:1083:2:1047:28796:41 1/1:-1523.27,-212.752,0:740:2:713:20149:28 1/1:-3049.42,-419.421,0:1454:5:1405:38959:70 1/1:-2466.24,-342.649,0:1170:3:1141:31898:42 1/1:-1224.05,-179.659,0:625:1:600:16642:14 1/1:-2159.86,-296.524,0:1017:2:986:27119:28 1/1:-2088.75,-298.539,0:1026:2:994:26933:28 1/1:-2118.21,-292.651,0:1005:1:972:27176:14 1/1:-2274.59,-314.235,0:1084:3:1050:29100:60 1/1:-3341.71,-439.709,0:1499:2:1465:41840:28 1/1:-2463.32,-328.642,0:1153:4:1125:31526:140 1/1:-1033.26,-169.11,0:605:3:574:14857:64 1/1:-1952.22,-270.756,0:947:4:914:25404:69 1/1:-2597.88,-356.058,0:1253:5:1209:33501:114 1/1:-2619.22,-365.208,0:1261:5:1225:34133:83 1/1:-2518.69,-329.185,0:1220:12:1163:32456:291 1/1:-1333.6,-188.433,0:652:1:629:17452:14 1/1:-1195.36,-169.806,0:597:5:575:15463:90 1/1:-2436.77,-340.572,0:1182:4:1147:31579:92 1/1:-2673.28,-366.026,0:1259:3:1220:34105:49 1/1:-2713.87,-376.557,0:1295:2:1257:34712:28 1/1:-2096.06,-274.084,0:986:7:949:26559:182 1/1:-1919.93,-271.617,0:932:3:905:24830:42 1/1:-2201.37,-297.863,0:1022:2:992:28003:46 1/1:-1667.38,-227.777,0:795:4:777:21398:85 1/1:-2270.77,-304.865,0:1108:10:1058:29483:242 1/1:-1349.08,-185.077,0:644:1:618:17124:14 1/1:-1916.24,-257.691,0:935:8:901:25102:213 1/1:-3078.62,-417.818,0:1430:1:1391:39689:14 1/1:-2062.56,-288.212,0:998:3:963:26549:55 1/1:-3031.78,-394.053,0:1418:10:1368:38719:251 1/1:-2566.2,-343.214,0:1217:8:1174:32942:178 1/1:-2522.15,-343.219,0:1195:7:1159:32307:120 . 1/1:-3412.8,-400.591,0:1366:1:1336:39724:21:1,1336 1/1:-2988.19,-344.017,0:1173:4:1150:34871:56:4,1150 1/1:-3409.57,-399.027,0:1374:3:1336:40205:64:3,1336 1/1:-1947.15,-225.367,0:779:3:756:22721:42:3,756 1/1:-2796.43,-328.083,0:1113:1:1091:32804:14:1,1091 1/1:-3190.97,-370.854,0:1264:1:1239:37507:27:1,1239 1/1:-2851.23,-327.571,0:1125:3:1098:33375:55:3,1098 1/1:-3382.91,-400.723,0:1351:1:1331:39839:14:1,1331 1/1:-2977.09,-342.102,0:1163:2:1142:34792:46:2,1142 0/1:-1475.3,0,-1285.44:1426:663:738:22333:20099:663,738 1/1:-3280.66,-376.028,0:1292:2:1260:38557:63:2,1260 1/1:-2306.65,-267.917,0:907:0:890:27068:0:0,890 1/1:-2960.28,-347.937,0:1181:1:1159:34847:14:1,1159 1/1:-2776.96,-321.801,0:1088:0:1069:32530:0:0,1069 1/1:-3575.22,-414.64,0:1417:2:1387:42150:46:2,1387 1/1:-2682.57,-316.684,0:1078:0:1052:31567:0:0,1052 1/1:-3189.56,-369.815,0:1262:1:1238:37400:36:1,1238 1/1:-2609.52,-303.081,0:1027:1:1010:30557:14:1,1010 1/1:-2526.47,-282.945,0:987:3:964:29619:104:3,964 1/1:-3579.56,-416.647,0:1434:4:1403:42357:78:4,1403 chr17 68171597 . C A 6189.77 . AB=0.477844;ABP=6.57047;AC=1;AF=0.5;AN=2;AO=399;CIGAR=1X;DP=835;DPB=835;DPRA=0;EPP=18.2977;EPPR=3.05694;GTI=0;LEN=1;MEANALT=3;MQM=35.7669;MQMR=35.4654;NS=1;NUMALT=1;ODDS=1425.25;PAIRED=0.947368;PAIREDR=0.940334;PAO=0;PQA=0;PQR=0;PRO=0;QA=10803;QR=12129;RO=419;RPL=163;RPP=32.0122;RPPR=3.13986;RPR=236;RUN=1;SAF=202;SAP=3.14636;SAR=197;SF=0;SRF=208;SRP=3.05694;SRR=211;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ2:NM_000891:exon2:c.C417A:p.T139T;cytoBand=17q24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs572394146;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.295e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.993e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.624e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.581e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-631.286,0,-721.282:835:419:399:10803:12129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 68172326 . C T 10192.35 . AB=0.447933;ABP=33.7634;AC=22;AF=0.5;AN=42;AO=585;CIGAR=1X;DP=24456;DPB=1306;DPRA=0;EPP=279.656;EPPR=236.502;GTI=0;LEN=1;MEANALT=3;MQM=38.5675;MQMR=38.8917;NS=1;NUMALT=1;ODDS=2118.88;PAIRED=0.955556;PAIREDR=0.964861;PAO=0;PQA=0;PQR=0;PRO=0;QA=15940;QR=19818;RO=683;RPL=394;RPP=155.975;RPPR=169.737;RPR=191;RUN=1;SAF=280;SAP=5.33025;SAR=305;SF=0,1;SRF=320;SRP=8.88885;SRR=363;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ2:NM_000891:exon2:c.C1146T:p.L382L;cytoBand=17q24.3;genomicSuperDups=.;esp6500siv2_all=0.1226;esp6500siv2_ea=0.1186;esp6500siv2_all=0.1226;esp6500siv2_ea=0.1186;1000g2015aug_all=0.153954;avsnp147=rs173135;Kaviar_AF=0.128841;Kaviar_AC=19919;Kaviar_AN=154602;ExAC_ALL=0.1337;ExAC_AFR=0.1371;ExAC_AMR=0.2420;ExAC_EAS=0.1060;ExAC_FIN=0.0918;ExAC_NFE=0.1167;ExAC_OTH=0.1433;ExAC_SAS=0.1553;CLNALLELEID=141691;CLNDN=Andersen_Tawil_syndrome|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Andersen-Tawil_syndrome#22739561;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM128893#"3-Hydroxybuyrate_levels_association_with";gnomAD_exome_ALL=0.1364;gnomAD_exome_AFR=0.1356;gnomAD_exome_AMR=0.2288;gnomAD_exome_ASJ=0.1244;gnomAD_exome_EAS=0.1063;gnomAD_exome_FIN=0.0908;gnomAD_exome_NFE=0.1172;gnomAD_exome_OTH=0.1406;gnomAD_exome_SAS=0.1584;gnomAD_genome_ALL=0.1183;gnomAD_genome_AFR=0.1352;gnomAD_genome_AMR=0.2243;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.1033;gnomAD_genome_FIN=0.0864;gnomAD_genome_NFE=0.1124;gnomAD_genome_OTH=0.1094;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-974.497,0,-1308.02:1306:683:585:15940:19818 0/1:-865.292,0,-915.471:1095:515:538:14007:14557 . . . . . . 0/1:-1380.6,0,-1577.04:1723:859:822:22170:24241 0/1:-666.547,0,-851.473:940:477:435:11145:13406 . . . . . . 0/1:-1321.1,0,-1134.26:1434:648:749:20587:18241 0/1:-991.47,0,-1401.78:1402:743:621:16568:21224 . . . . . 0/1:-873.005,0,-993.375:1091:539:518:13994:15265 . . . . . . . . . . . . . . . . . . . . 0/1:-867.872,0,-1103.03:1192:607:549:14538:17248 . . . 0/1:-822.706,0,-912.415:1006:507:471:12943:14298 . . . 0/1:-1100.36,0,-1029.12:1286:587:649:17435:16461 . . . . 0/1:-1104.88,0,-1707.85:1672:914:711:18869:25704 . 0/1:-489.708,0,-614.164:717:359:335:8475:9871 . . . . 1/1:-3325.84,-387.008,0:1507:22:1445:39434:630 . 0/1:-602.924,0,-633.824:828:397:401:10224:10800 . . . . . . . . . . . . . . . 0/1:-955.535,0,-1032.09:1199:569:593:15480:16330 . . . . . . . 0/1:-903.913,0,-1038.4:964:491:460:13661:15305:491,460 . . . 0/1:-1203.39,0,-1060.23:1163:523:609:17868:15999:523,609 . . . . . . 0/1:-872.308,0,-923.646:924:448:454:13361:13763:448,454 . . 0/1:-954.667,0,-944.404:975:465:491:14345:14436:465,491 0/1:-1126.25,0,-1148.59:1140:551:573:17093:17134:551,573 . . 0/1:-867.399,0,-910.017:892:436:446:13092:13502:436,446 chr17 78078656 . G A 1453.89 . AB=0.45488;ABP=12.612;AC=4;AF=0.5;AN=8;AO=247;CIGAR=1X;DP=1317;DPB=543;DPRA=0;EPP=119.276;EPPR=202.643;GTI=0;LEN=1;MEANALT=3;MQM=24.8543;MQMR=26.4498;NS=1;NUMALT=1;ODDS=573.174;PAIRED=0.842105;PAIREDR=0.83391;PAO=0;PQA=0;PQR=0;PRO=0;QA=6892;QR=9295;RO=289;RPL=80;RPP=69.5523;RPPR=98.9533;RPR=167;RUN=1;SAF=133;SAP=6.18399;SAR=114;SF=0;SRF=178;SRP=36.7395;SRR=111;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.G271A:p.D91N,GAA:NM_001079804:exon2:c.G271A:p.D91N,GAA:NM_001079803:exon3:c.G271A:p.D91N;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0231;esp6500siv2_ea=0.0315;esp6500siv2_all=0.0231;esp6500siv2_ea=0.0315;1000g2015aug_all=0.0115815;avsnp147=rs1800299;Kaviar_AF=0.0213969;Kaviar_AC=3308;Kaviar_AN=154602;ExAC_ALL=0.0211;ExAC_AFR=0.0064;ExAC_AMR=0.0091;ExAC_EAS=0.0001;ExAC_FIN=0.0207;ExAC_NFE=0.0317;ExAC_OTH=0.0165;ExAC_SAS=0.0078;CLNALLELEID=19059;CLNDN=Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=other;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.395;MutationAssessor_pred=L;FATHMM_score=0.35;FATHMM_pred=T;PROVEAN_score=-4.31;PROVEAN_pred=D;VEST3_score=0.165;CADD_raw=4.921;CADD_phred=25.0;DANN_score=0.995;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.791;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.94;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.942;phastCons20way_mammalian=0.507;SiPhy_29way_logOdds=16.922;GDI_full_10282015=.;dpsi_max_tissue=-1.1205;dpsi_zscore=-1.540;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM155935#"Glycogen_storage_disease_2";gnomAD_exome_ALL=0.0204;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.0117;gnomAD_exome_ASJ=0.0136;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0179;gnomAD_exome_NFE=0.0327;gnomAD_exome_OTH=0.0189;gnomAD_exome_SAS=0.0081;gnomAD_genome_ALL=0.0216;gnomAD_genome_AFR=0.0060;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0161;gnomAD_genome_NFE=0.0350;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-276.109,0,-421.733:543:289:247:6892:9295 . . . . . . . . . . . . . . . . . 0/1:-173.123,0,-159.525:257:115:135:3903:3783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-97.6775,0,-159.478:213:116:92:2582:3516 . . . . . . . . 0/1:-131.254,0,-272.371:304:171:127:3463:5404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78078708 . GT GC 5362.05 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=222;CIGAR=1M1X;DP=230;DPB=230;DPRA=0;EPP=15.687;EPPR=0;GTI=0;LEN=1;MEANALT=4;MQM=36.2072;MQMR=0;NS=1;NUMALT=1;ODDS=310.417;PAIRED=0.923423;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6939;QR=0;RO=0;RPL=80;RPP=40.61;RPPR=0;RPR=142;RUN=1;SAF=173;SAP=153.409;SAR=49;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=GAA:NM_000152:exon2:c.324delT:p.C108fs,GAA:NM_001079804:exon2:c.324delT:p.C108fs,GAA:NM_001079803:exon3:c.324delT:p.C108fs;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-560.94,-66.8287,0:230:0:222:6939:0:0,222 . chr17 78078709 . T C 5522.99 . AB=0.452055;ABP=8.84055;AC=186;AF=0.5;AN=224;AO=132;CIGAR=1X;DP=42804;DPB=292;DPRA=0;EPP=5.37918;EPPR=5.15203;GTI=0;LEN=1;MEANALT=3;MQM=26.3106;MQMR=31.4315;NS=1;NUMALT=1;ODDS=326.327;PAIRED=0.795455;PAIREDR=0.849315;PAO=0;PQA=0;PQR=0;PRO=0;QA=3800;QR=4267;RO=146;RPL=46;RPP=29.3312;RPPR=26.8073;RPR=86;RUN=1;SAF=100;SAP=79.0776;SAR=32;SF=0,1;SRF=108;SRP=75.8885;SRR=38;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.7316;esp6500siv2_ea=0.7490;esp6500siv2_all=0.7316;esp6500siv2_ea=0.7490;1000g2015aug_all=0.714457;avsnp147=rs1800300;Kaviar_AF=0.0031112;Kaviar_AC=481;Kaviar_AN=154602;ExAC_ALL=0.7367;ExAC_AFR=0.7094;ExAC_AMR=0.5074;ExAC_EAS=0.6370;ExAC_FIN=0.8006;ExAC_NFE=0.7654;ExAC_OTH=0.7609;ExAC_SAS=0.8214;CLNALLELEID=98393;CLNDN=Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5658;dpsi_zscore=1.197;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7238;gnomAD_exome_AFR=0.6994;gnomAD_exome_AMR=0.5130;gnomAD_exome_ASJ=0.7994;gnomAD_exome_EAS=0.6313;gnomAD_exome_FIN=0.8005;gnomAD_exome_NFE=0.7563;gnomAD_exome_OTH=0.7414;gnomAD_exome_SAS=0.8178;gnomAD_genome_ALL=0.7276;gnomAD_genome_AFR=0.6914;gnomAD_genome_AMR=0.5395;gnomAD_genome_ASJ=0.7881;gnomAD_genome_EAS=0.6167;gnomAD_genome_FIN=0.7908;gnomAD_genome_NFE=0.7533;gnomAD_genome_OTH=0.7571;Whole_Blood=Whole_Blood::0.277778::-0.317424;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-158.78,0,-226.22:292:146:132:3800:4267 0/1:-334.784,0,-245.362:454:192:244:7273:5784 1/1:-721.097,-104.376,0:365:3:359:10706:64 0/1:-136.401,0,-186.868:241:121:110:3309:3739 1/1:-754.052,-111.831,0:394:2:386:11854:64 0/1:-320.324,0,-263.463:469:210:243:7234:6206 1/1:-613.403,-99.2984,0:343:1:331:9793:14 1/1:-924.524,-148.148,0:501:1:492:14573:36 0/1:-251.381,0,-301.521:397:194:181:5539:5867 0/1:-253.149,0,-232.691:366:170:187:5598:4996 0/1:-209.221,0,-281.878:378:196:168:4733:5782 0/1:-188.524,0,-270.57:357:184:162:4824:5370 1/1:-692.547,-109.341,0:378:3:372:10868:64 0/1:-142.676,0,-182.885:270:136:122:3529:4020 0/1:-230.574,0,-184.484:286:124:157:4689:3784 1/1:-1043.32,-157.691,0:537:1:530:16030:36 1/1:-465.108,-74.6554,0:256:0:248:7225:0 1/1:-1647.18,-246.528,0:901:9:876:26503:265 1/1:-681.918,-100.699,0:350:1:340:10386:27 1/1:-455.381,-68.2314,0:232:1:228:6836:32 0/1:-210.355,0,-282.138:353:186:157:4721:5603 1/1:-764.01,-116.478,0:397:1:390:11790:14 1/1:-379.422,-60.2727,0:205:1:200:5918:14 . 1/1:-897.413,-134.076,0:488:4:469:13793:122 1/1:-472.305,-77.2674,0:274:2:265:7906:46 1/1:-949.525,-143.355,0:488:1:482:14423:32 0/1:-208.964,0,-269.332:348:176:155:4668:5178 1/1:-622.651,-98.4368,0:334:0:327:9746:0 1/1:-647.007,-97.1694,0:334:1:329:9941:36 1/1:-536.921,-77.85,0:291:3:277:8087:86 1/1:-734.48,-105.183,0:367:2:361:11292:46 . 0/1:-351.77,0,-455.854:632:307:291:8414:9040 1/1:-663.793,-96.3577,0:341:3:334:10108:77 1/1:-870.676,-138.41,0:475:2:464:13657:28 1/1:-1253.53,-196.041,0:691:3:667:19776:64 0/1:-161.796,0,-175.627:242:122:110:3315:3726 0/1:-235.897,0,-293.338:414:213:182:5470:6442 1/1:-742.631,-112.407,0:390:1:383:11180:36 1/1:-714.314,-104.328,0:367:1:355:10952:32 1/1:-914.882,-134.329,0:500:6:484:14501:175 0/1:-226.436,0,-278.021:414:205:189:5646:5954 0/1:-301.983,0,-248.606:417:195:207:6248:5528 1/1:-694.917,-103.492,0:372:4:363:11096:122 1/1:-798.779,-127.854,0:441:2:431:12723:28 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1/1:-875.388,-132.279,0:457:1:449:13181:36 0/1:-349.498,0,-356.854:553:257:274:8111:7453 0/1:-371.874,0,-354.503:553:246:280:8316:7506 . 0/1:-380.988,0,-335.356:380:175:198:6120:5603:175,198 0/1:-270.16,0,-268.046:290:136:145:4550:4296:136,145 1/1:-719.61,-86.9835,0:301:1:295:9377:32:1,295 1/1:-668.115,-85.4925,0:289:0:284:8872:0:0,284 0/1:-219.969,0,-296.882:292:153:129:3996:4725:153,129 1/1:-708.784,-82,0:287:1:282:9129:36:1,282 1/1:-743.495,-87.2264,0:309:2:300:9367:41:2,300 1/1:-714.583,-87.2987,0:291:0:290:9188:0:0,290 1/1:-704.886,-83.9366,0:289:1:282:9078:14:1,282 0/1:-326.301,0,-278.884:321:148:165:5345:4679:148,165 1/1:-704.11,-76.8247,0:295:4:287:8985:122:4,287 1/1:-578.85,-67.4307,0:230:0:224:7236:0:0,224 1/1:-587.963,-74.9565,0:252:0:249:7805:0:0,249 1/1:-560.978,-64.6899,0:228:1:222:7162:27:1,222 1/1:-750.655,-81.55,0:314:5:306:9577:136:5,306 1/1:-673.795,-81.5791,0:275:0:271:8375:0:0,271 1/1:-715.648,-80.6622,0:292:3:286:8854:77:3,286 1/1:-655.728,-82.4822,0:277:0:274:8507:0:0,274 . 1/1:-700.589,-75.2987,0:273:2:268:8660:68:2,268 chr17 78079544 . C G 19393.49 . AB=0.488794;ABP=4.03231;AC=188;AF=0.5;AN=226;AO=458;CIGAR=1X;DP=136471;DPB=937;DPRA=0;EPP=9.8566;EPPR=10.0827;GTI=0;LEN=1;MEANALT=3;MQM=28.3777;MQMR=35.8694;NS=1;NUMALT=1;ODDS=1442.39;PAIRED=0.912664;PAIREDR=0.85439;PAO=0;PQA=0;PQR=0;PRO=0;QA=12912;QR=14569;RO=467;RPL=195;RPP=24.9336;RPPR=3.79612;RPR=263;RUN=1;SAF=247;SAP=9.1549;SAR=211;SF=0,1;SRF=245;SRP=5.47006;SRR=222;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6727;esp6500siv2_ea=0.7384;esp6500siv2_all=0.6727;esp6500siv2_ea=0.7384;1000g2015aug_all=0.602835;avsnp147=rs3816256;Kaviar_AF=0.664603;Kaviar_AC=102749;Kaviar_AN=154602;ExAC_ALL=0.6759;ExAC_AFR=0.5416;ExAC_AMR=0.4592;ExAC_EAS=0.5294;ExAC_FIN=0.7639;ExAC_NFE=0.7456;ExAC_OTH=0.7206;ExAC_SAS=0.6700;CLNALLELEID=98394;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8352;dpsi_zscore=1.914;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6699;gnomAD_exome_AFR=0.5364;gnomAD_exome_AMR=0.4733;gnomAD_exome_ASJ=0.7791;gnomAD_exome_EAS=0.5312;gnomAD_exome_FIN=0.7615;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7065;gnomAD_exome_SAS=0.6696;gnomAD_genome_ALL=0.6678;gnomAD_genome_AFR=0.5358;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5399;gnomAD_genome_FIN=0.7600;gnomAD_genome_NFE=0.7400;gnomAD_genome_OTH=0.7260;Whole_Blood=Whole_Blood::0.304878::-0.331363;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-637.102,0,-881.971:937:467:458:12912:14569 0/1:-812.083,0,-1293.27:1294:706:581:17051:21378 1/1:-2368.06,-351.095,0:1229:11:1204:34723:179 0/1:-484.687,0,-653.246:761:380:370:10162:11519 1/1:-2230.91,-302.401,0:1211:33:1170:33023:769 0/1:-972.659,0,-1715.34:1675:906:749:20796:28005 1/1:-1945.89,-283.741,0:1011:15:991:28054:289 1/1:-2579.11,-383.968,0:1385:27:1346:37543:429 0/1:-798.704,0,-1176.54:1239:643:582:16444:19660 0/1:-744.101,0,-1119.93:1218:633:572:16096:19074 0/1:-653.743,0,-1021.6:1076:559:506:14431:17148 0/1:-708.655,0,-1094.5:1138:590:540:15128:17820 1/1:-2106.83,-297.078,0:1110:25:1068:30058:469 0/1:-583.717,0,-863.789:959:480:462:12652:14610 0/1:-564.813,0,-887.825:884:468:406:11431:14367 1/1:-3491.89,-485.384,0:1733:25:1696:48802:456 1/1:-1572,-245.044,0:858:9:837:23812:139 1/1:-5157.5,-710.594,0:2638:49:2558:73249:993 1/1:-2271.76,-322.102,0:1112:10:1087:31637:147 1/1:-1554.02,-236.689,0:840:14:817:23001:236 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A G 19438.05 . AB=0.49046;ABP=3.71463;AC=188;AF=0.5;AN=226;AO=437;CIGAR=1X;DP=136466;DPB=891;DPRA=0;EPP=3.13453;EPPR=8.27947;GTI=0;LEN=1;MEANALT=3;MQM=28.0801;MQMR=35.3009;NS=1;NUMALT=1;ODDS=1395.26;PAIRED=0.878719;PAIREDR=0.848341;PAO=0;PQA=0;PQR=0;PRO=0;QA=12707;QR=12556;RO=422;RPL=293;RPP=113.328;RPPR=69.8834;RPR=144;RUN=1;SAF=194;SAP=14.941;SAR=243;SF=0,1;SRF=191;SRP=11.2434;SRR=231;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.A596G:p.H199R,GAA:NM_001079804:exon3:c.A596G:p.H199R,GAA:NM_001079803:exon4:c.A596G:p.H199R;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6725;esp6500siv2_ea=0.7383;esp6500siv2_all=0.6725;esp6500siv2_ea=0.7383;1000g2015aug_all=0.600839;avsnp147=rs1042393;Kaviar_AF=0.670573;Kaviar_AC=103672;Kaviar_AN=154602;ExAC_ALL=0.6746;ExAC_AFR=0.5412;ExAC_AMR=0.4591;ExAC_EAS=0.5293;ExAC_FIN=0.7637;ExAC_NFE=0.7455;ExAC_OTH=0.7173;ExAC_SAS=0.6618;CLNALLELEID=98395;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.702;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.263;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.92;MutationAssessor_pred=N;FATHMM_score=-1.42;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_pred=N;VEST3_score=0.174;CADD_raw=-1.974;CADD_phred=0.001;DANN_score=0.420;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.892;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-2.36;phyloP7way_vertebrate=-0.362;phyloP20way_mammalian=-0.388;phastCons7way_vertebrate=0.018;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=12.466;GDI_full_10282015=.;dpsi_max_tissue=0.0757;dpsi_zscore=0.402;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6686;gnomAD_exome_AFR=0.5362;gnomAD_exome_AMR=0.4734;gnomAD_exome_ASJ=0.7789;gnomAD_exome_EAS=0.5311;gnomAD_exome_FIN=0.7610;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7061;gnomAD_exome_SAS=0.6616;gnomAD_genome_ALL=0.6677;gnomAD_genome_AFR=0.5355;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5391;gnomAD_genome_FIN=0.7599;gnomAD_genome_NFE=0.7399;gnomAD_genome_OTH=0.7270;Whole_Blood=Whole_Blood::0.304878::-0.331363;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-625.566,0,-726.302:891:422:437:12707:12556 0/1:-881.062,0,-1090.86:1320:645:626:18024:18903 1/1:-2394.06,-352.363,0:1229:10:1201:35447:202 0/1:-518.507,0,-571.14:752:352:365:10595:10330 1/1:-2251.87,-324.764,0:1210:16:1168:33692:407 0/1:-1078.74,0,-1451.13:1700:841:778:22816:25059 1/1:-1894.78,-288.719,0:1004:5:977:27712:92 1/1:-2546.3,-389.477,0:1359:9:1321:37609:195 0/1:-775.612,0,-1000.21:1215:609:573:16550:17582 0/1:-817.632,0,-861.519:1216:555:610:17324:15960 0/1:-679.096,0,-864.57:1085:530:514:14870:15583 0/1:-712.654,0,-907.224:1089:530:534:15234:15847 1/1:-2094.37,-303.233,0:1083:11:1057:30268:234 0/1:-548.8,0,-771.953:917:467:419:12157:13785 0/1:-658.891,0,-757.701:900:441:431:12699:12985 1/1:-3560.38,-504.945,0:1762:16:1717:50182:284 1/1:-1569.85,-249.622,0:864:4:845:24138:96 1/1:-4984.15,-690.849,0:2511:26:2431:71578:660 1/1:-2268.53,-323.719,0:1092:2:1081:31737:59 1/1:-1534.58,-233.15,0:809:6:779:22299:102 0/1:-520.48,0,-723.579:867:438:400:11379:12773 1/1:-2409.31,-361.63,0:1245:6:1213:35512:115 1/1:-1421.47,-220.872,0:759:6:740:21342:115 . 1/1:-2662,-398.583,0:1384:5:1348:38822:132 1/1:-1550.19,-247.807,0:872:7:849:24128:180 1/1:-2379.46,-351.38,0:1234:7:1209:34606:199 0/1:-689.549,0,-950.964:1090:545:503:14626:16143 1/1:-1791.53,-271.079,0:931:5:908:26013:112 1/1:-1956.91,-289.279,0:1005:9:971:28219:155 1/1:-1806.39,-263.541,0:939:7:909:26070:164 1/1:-2744.6,-410.226,0:1414:8:1383:40590:173 . 0/1:-840.762,0,-1136.54:1411:686:678:19129:19952 1/1:-1954.34,-288.063,0:996:6:973:28400:113 1/1:-2597.2,-387.271,0:1358:8:1326:38569:192 1/1:-3127.97,-471.186,0:1645:11:1603:46225:263 0/1:-674.505,0,-895.948:1051:526:488:14094:15401 0/1:-690.194,0,-818.786:1058:492:531:14662:14607 1/1:-1762.33,-257.462,0:891:4:873:25516:118 1/1:-2665.17,-393.438,0:1344:6:1321:38827:106 1/1:-2154.45,-326.276,0:1155:8:1123:32412:200 0/1:-853.021,0,-902.25:1149:532:575:16855:15896 0/1:-795.82,0,-1020.2:1187:589:565:16586:17240 1/1:-2782.04,-407.791,0:1408:8:1371:39731:148 1/1:-2270.37,-322.469,0:1163:14:1129:32740:324 0/1:-764.95,0,-936.418:1149:550:564:16314:16655 0/1:-439.187,0,-433.095:603:267:316:9155:7938 0/1:-589.198,0,-726.617:882:409:440:12662:12323 0/1:-956.713,0,-1074.85:1353:629:679:19163:18966 1/1:-2550.03,-369.577,0:1299:8:1267:36827:187 1/1:-2127.1,-331.379,0:1134:6:1104:31475:102 1/1:-2810.61,-410.384,0:1408:6:1374:40078:119 1/1:-2729.38,-414.609,0:1420:4:1389:40377:91 0/1:-509.391,0,-735.231:890:448:400:11506:13146 1/1:-1977.27,-291.404,0:1010:7:987:28570:169 1/1:-2378.98,-347.521,0:1239:14:1203:34856:329 1/1:-1378.97,-208.697,0:734:4:717:20463:113 0/1:-577.384,0,-724.165:872:430:405:12020:12653 1/1:-2516.18,-366.141,0:1271:7:1241:36120:146 0/1:-567.562,0,-639.041:861:392:428:12311:11461 0/1:-1076.43,0,-1307.8:1589:766:759:22092:22834 1/1:-2243.85,-324.324,0:1123:7:1098:32004:131 1/1:-1542.55,-231.111,0:844:11:815:23295:304 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1/1:-2344.78,-346.045,0:1198:4:1169:33402:113 0/1:-717.906,0,-573.416:892:363:494:14430:10654 1/1:-2443.16,-370.345,0:1262:6:1242:36000:124 1/1:-1408.83,-206.748,0:718:4:702:20503:118 1/1:-2111.24,-314.179,0:1104:8:1076:31693:200 0/1:-1177.95,0,-1200.65:1663:764:833:24201:22131 1/1:-1916.04,-285.539,0:1017:10:982:28183:197 1/1:-2804.75,-421.948,0:1471:12:1440:41782:265 0/1:-1014.33,0,-1164.72:1432:677:705:19990:19963 0/1:-902.596,0,-1144.11:1389:664:673:19192:19712 . 0/1:-1731.09,0,-1411.78:1555:698:843:26613:22000:698,843 0/1:-1325.39,0,-1545.52:1450:728:704:22150:23103:728,704 1/1:-4195.64,-473.207,0:1643:7:1625:51359:221:7,1625 1/1:-2448.07,-286.557,0:986:3:973:30504:82:3,973 0/1:-1290.03,0,-1284.74:1290:626:651:20372:19875:626,651 1/1:-3751.57,-432.746,0:1470:3:1450:45768:86:3,1450 1/1:-3816.87,-427.924,0:1496:5:1468:46531:176:5,1468 1/1:-3944.08,-451.828,0:1543:3:1526:47889:95:3,1526 1/1:-3743.55,-430.858,0:1472:4:1461:45922:122:4,1461 0/1:-1563.03,0,-1603.83:1640:802:812:25364:24677:802,812 1/1:-3994.38,-459.749,0:1568:4:1553:48963:100:4,1553 1/1:-3004.68,-345.73,0:1203:4:1182:37275:127:4,1182 1/1:-3414.28,-407.317,0:1371:2:1362:42507:46:2,1362 1/1:-3423.94,-399.613,0:1346:2:1330:41632:50:2,1330 1/1:-3772.37,-414.138,0:1550:20:1511:47190:597:20,1511 1/1:-3658.98,-426.709,0:1471:3:1446:45459:108:3,1446 1/1:-3967.5,-457.905,0:1564:4:1550:49101:131:4,1550 1/1:-3141.37,-360.778,0:1241:5:1226:38586:163:5,1226 1/1:-3200.2,-371.948,0:1271:3:1256:39174:108:3,1256 1/1:-3988.01,-443.898,0:1574:14:1549:49192:403:14,1549 chr17 78079643 . C T 7858.98 . AB=0.469657;ABP=9.07209;AC=77;AF=0.5;AN=136;AO=356;CIGAR=1X;DP=68898;DPB=758;DPRA=0;EPP=3.62026;EPPR=6.44648;GTI=0;LEN=1;MEANALT=3;MQM=27.7472;MQMR=31.9615;NS=1;NUMALT=1;ODDS=1095.07;PAIRED=0.856742;PAIREDR=0.774725;PAO=0;PQA=0;PQR=0;PRO=0;QA=10268;QR=11193;RO=364;RPL=166;RPP=6.52369;RPPR=55.7222;RPR=190;RUN=1;SAF=171;SAP=4.20583;SAR=185;SF=0,1;SRF=179;SRP=3.22506;SRR=185;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.C642T:p.S214S,GAA:NM_001079804:exon3:c.C642T:p.S214S,GAA:NM_001079803:exon4:c.C642T:p.S214S;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.1722;esp6500siv2_ea=0.22;esp6500siv2_all=0.1722;esp6500siv2_ea=0.22;1000g2015aug_all=0.10603;avsnp147=rs1800301;Kaviar_AF=0.178484;Kaviar_AC=27594;Kaviar_AN=154602;ExAC_ALL=0.1802;ExAC_AFR=0.0762;ExAC_AMR=0.0961;ExAC_EAS=0.0009;ExAC_FIN=0.2508;ExAC_NFE=0.2307;ExAC_OTH=0.1939;ExAC_SAS=0.1673;CLNALLELEID=98396;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3860;dpsi_zscore=-0.967;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1790;gnomAD_exome_AFR=0.0710;gnomAD_exome_AMR=0.0990;gnomAD_exome_ASJ=0.2994;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.2432;gnomAD_exome_NFE=0.2254;gnomAD_exome_OTH=0.2045;gnomAD_exome_SAS=0.1709;gnomAD_genome_ALL=0.1648;gnomAD_genome_AFR=0.0746;gnomAD_genome_AMR=0.1136;gnomAD_genome_ASJ=0.3133;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.2534;gnomAD_genome_NFE=0.2138;gnomAD_genome_OTH=0.1714;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 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0/1:-469.431,0,-521.599:750:357:362:10309:10878 1/1:-2014.47,-313.021,0:1144:13:1082:30702:291 1/1:-1758.35,-272.467,0:1023:14:951:26577:267 . 0/1:-564.159,0,-895.127:980:518:440:12305:16069 0/1:-705.789,0,-885.58:1153:589:529:15403:17960 . 0/1:-562.111,0,-932.973:1012:540:449:12733:16573 0/1:-354.898,0,-378.938:538:250:272:7804:7561 0/1:-454.976,0,-723.028:784:406:360:10477:12698 0/1:-645.542,0,-1001.37:1157:601:507:14822:18401 1/1:-1881.51,-272.236,0:1056:18:991:28111:435 0/1:-519.345,0,-669.36:964:479:445:12209:14297 . 1/1:-2089.22,-330.152,0:1188:7:1123:31565:206 . . 1/1:-1861.84,-281.971,0:1064:12:995:28095:291 0/1:-314.41,0,-478.372:590:306:266:7386:9327 0/1:-339.455,0,-608.948:657:364:276:7874:11035 . 0/1:-342.67,0,-564.493:684:353:306:8534:10668 . 0/1:-561.775,0,-676.138:938:449:460:12928:13593 . 0/1:-676.867,0,-962.734:1252:636:571:16487:19640 . 0/1:-292.901,0,-423.58:533:277:241:6738:8566 0/1:-566.169,0,-758.768:935:458:445:12654:13917 0/1:-473.288,0,-758.709:944:512:405:11280:15498 . 0/1:-614.393,0,-786.266:1017:483:506:13872:14929 0/1:-797.347,0,-959.496:1250:620:589:16977:19107 0/1:-630.04,0,-925.828:1164:610:516:14785:18611 0/1:-254.205,0,-368.68:563:290:247:6669:8736 0/1:-419.966,0,-821.112:846:477:348:10196:14583 0/1:-660.764,0,-1057.01:1306:693:570:16012:21107 0/1:-661.431,0,-697.744:1058:506:515:14424:15348 . . 0/1:-422.841,0,-407.966:596:271:313:8971:8454 0/1:-463.07,0,-807.409:975:543:402:11324:16484 . . 0/1:-471.698,0,-848.769:927:491:405:11508:14898 0/1:-431.965,0,-798.029:914:483:404:10983:14681 . 0/1:-467.64,0,-584.286:723:356:340:9827:10972 0/1:-640.304,0,-798.777:1064:530:497:14366:16251 . 0/1:-487.575,0,-740.041:962:517:423:11723:15818 . . 0/1:-853.983,0,-823.764:1284:564:669:18860:17527 . . . . 0/1:-1037.44,0,-1423.12:1290:680:578:17919:21554:680,578 0/1:-1356.18,0,-1424.76:1438:705:715:22133:22537:705,715 0/1:-779.693,0,-779.317:854:409:425:13112:12817:409,425 . 0/1:-1173.15,0,-1355.74:1339:666:647:19562:21284:666,647 . 0/1:-1227.06,0,-1352.69:1346:649:670:20311:21201:649,670 0/1:-1091.89,0,-1368.11:1277:664:596:18259:21201:664,596 . 0/1:-1422.48,0,-1222.74:1398:630:747:22826:19963:630,747 . 0/1:-1042.1,0,-1258.71:1245:640:586:17963:19829:640,586 . 0/1:-1161.77,0,-1286.36:1299:651:635:19460:20559:651,635 0/1:-1034.89,0,-1442.69:1320:713:583:17730:22284:713,583 0/1:-1291.14,0,-1230.8:1349:639:682:20988:20126:639,682 0/1:-945.701,0,-1134.17:1092:560:510:15933:17709:560,510 . 0/1:-1204.75,0,-1499.42:1450:748:674:20339:23537:748,674 chr17 78079669 . G A 13469.68 . AB=0.460055;ABP=13.0721;AC=188;AF=0.5;AN=226;AO=334;CIGAR=1X;DP=111506;DPB=726;DPRA=0;EPP=16.7673;EPPR=13.7701;GTI=0;LEN=1;MEANALT=3;MQM=27.8533;MQMR=31.6067;NS=1;NUMALT=1;ODDS=908.107;PAIRED=0.826347;PAIREDR=0.783708;PAO=0;PQA=0;PQR=0;PRO=0;QA=8808;QR=11131;RO=356;RPL=156;RPP=6.15698;RPPR=3.62026;RPR=178;RUN=1;SAF=146;SAP=14.4788;SAR=188;SF=0,1;SRF=174;SRP=3.40068;SRR=182;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.G668A:p.R223H,GAA:NM_001079804:exon3:c.G668A:p.R223H,GAA:NM_001079803:exon4:c.G668A:p.R223H;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6724;esp6500siv2_ea=0.7381;esp6500siv2_all=0.6724;esp6500siv2_ea=0.7381;1000g2015aug_all=0.602436;avsnp147=rs1042395;Kaviar_AF=0.667863;Kaviar_AC=103253;Kaviar_AN=154602;ExAC_ALL=0.6760;ExAC_AFR=0.5423;ExAC_AMR=0.4590;ExAC_EAS=0.5291;ExAC_FIN=0.7654;ExAC_NFE=0.7460;ExAC_OTH=0.7170;ExAC_SAS=0.6701;CLNALLELEID=98397;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.539;SIFT_pred=T;Polyphen2_HDIV_score=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.27;MutationAssessor_pred=M;FATHMM_score=-2.0;FATHMM_pred=D;PROVEAN_score=-1.61;PROVEAN_pred=N;VEST3_score=0.37;CADD_raw=1.133;CADD_phred=11.39;DANN_score=0.799;fathmm-MKL_coding_score=0.219;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=1.76;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.008;phastCons20way_mammalian=0.204;SiPhy_29way_logOdds=10.855;GDI_full_10282015=.;dpsi_max_tissue=-0.2089;dpsi_zscore=-0.704;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6675;gnomAD_exome_AFR=0.5363;gnomAD_exome_AMR=0.4730;gnomAD_exome_ASJ=0.7785;gnomAD_exome_EAS=0.5302;gnomAD_exome_FIN=0.7560;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7061;gnomAD_exome_SAS=0.6694;gnomAD_genome_ALL=0.6676;gnomAD_genome_AFR=0.5359;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5360;gnomAD_genome_FIN=0.7597;gnomAD_genome_NFE=0.7398;gnomAD_genome_OTH=0.7271;Whole_Blood=Whole_Blood::0.306233::-0.326533;Liver=.;ALLELE_END;COSO_score=-1 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1/1:-1591.49,-251.973,0:977:14:888:23307:240 1/1:-868.711,-145.898,0:550:8:504:12921:152 . 1/1:-1735.25,-273.283,0:1065:19:960:25442:288 1/1:-1087.53,-181.396,0:722:15:636:16458:210 1/1:-1549.26,-249.02,0:947:10:870:22932:242 0/1:-412.38,0,-876.307:885:484:366:9852:15449 1/1:-1176.3,-194.698,0:735:11:670:17467:174 1/1:-1264.18,-198.203,0:755:11:691:18333:220 1/1:-1262.5,-191.078,0:746:10:675:18285:184 1/1:-1773.05,-289.368,0:1090:13:998:26679:218 . 0/1:-501.277,0,-950.451:1122:573:493:12749:17623 1/1:-1435.41,-224.728,0:895:16:805:20816:326 1/1:-1708.19,-267.708,0:1072:20:958:25358:346 1/1:-1913.2,-294.901,0:1230:31:1092:28964:596 0/1:-461.901,0,-695.591:811:404:374:9871:12801 0/1:-454.803,0,-724.781:887:444:404:10565:13874 1/1:-1160.37,-186.485,0:700:10:645:17193:140 1/1:-1792.78,-289.725,0:1128:16:1011:26648:264 1/1:-1552.62,-243.062,0:974:19:873:23462:317 0/1:-552.541,0,-694.254:921:434:442:11654:13593 0/1:-482.659,0,-803.973:924:474:411:10618:14788 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1/1:-3141.43,-386.497,0:1362:6:1312:38757:141:6,1312 1/1:-2409.23,-292.67,0:1047:8:1013:30136:174:8,1013 1/1:-2798.3,-353.752,0:1243:6:1195:34946:106:6,1195 1/1:-2747.09,-334.387,0:1182:4:1126:33306:100:4,1126 1/1:-2993.33,-358.894,0:1349:15:1289:37467:413:15,1289 1/1:-2864.1,-352.601,0:1246:5:1205:35326:132:5,1205 1/1:-3072.09,-375.254,0:1345:7:1292:38322:191:7,1292 1/1:-2454.33,-306.429,0:1062:1:1021:30342:14:1,1021 1/1:-2663.05,-325.223,0:1154:5:1112:32761:132:5,1112 1/1:-3370.68,-407.474,0:1461:8:1404:41922:210:8,1404 chr17 78079710 . G C 6051.39 . AB=0.475734;ABP=11.5466;AC=2;AF=0.5;AN=4;AO=794;CIGAR=1X;DP=2371;DPB=1669;DPRA=0;EPP=18.8068;EPPR=8.3781;GTI=0;LEN=1;MEANALT=3;MQM=25.6587;MQMR=28.2967;NS=1;NUMALT=1;ODDS=2033.46;PAIRED=0.808564;PAIREDR=0.795561;PAO=0;PQA=0;PQR=0;PRO=0;QA=21793;QR=26264;RO=856;RPL=571;RPP=334.212;RPPR=472.058;RPR=223;RUN=1;SAF=322;SAP=64.5445;SAR=472;SF=0;SRF=380;SRP=26.3891;SRR=476;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000599042;avsnp147=rs199559553;Kaviar_AF=0.0012419;Kaviar_AC=192;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0003;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0068;ExAC_NFE=0.0016;ExAC_OTH=0.0035;ExAC_SAS=0.0001;CLNALLELEID=506202;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2785;dpsi_zscore=-0.821;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=9.109e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0076;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0010;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0089;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-933.964,0,-1271.11:1669:856:794:21793:26264 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-350.44,0,-536.856:702:366:329:8557:11252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78081352 . G T 6930.27 . AB=0.453564;ABP=20.3539;AC=1;AF=0.5;AN=2;AO=420;CIGAR=1X;DP=926;DPB=926;DPRA=0;EPP=22.8844;EPPR=23.0121;GTI=0;LEN=1;MEANALT=3;MQM=37.1833;MQMR=38.1315;NS=1;NUMALT=1;ODDS=1595.75;PAIRED=0.919048;PAIREDR=0.942231;PAO=0;PQA=0;PQR=0;PRO=0;QA=12088;QR=15518;RO=502;RPL=118;RPP=178.052;RPPR=162.471;RPR=302;RUN=1;SAF=259;SAP=52.6646;SAR=161;SF=1;SRF=316;SRP=76.1137;SRR=186;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000399361;avsnp147=rs200088236;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=9.722e-05;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0.0009;CLNALLELEID=265334;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7017;dpsi_zscore=1.313;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-727.476,0,-1013.46:926:502:420:12088:15518:502,420 . . . . . . . . . . . . . . . . chr17 78081515 . G A 5134.39 . AB=0.39911;ABP=122.19;AC=5;AF=0.5;AN=10;AO=538;CIGAR=1X;DP=7475;DPB=1348;DPRA=0;EPP=16.5881;EPPR=4.21667;GTI=0;LEN=1;MEANALT=3;MQM=21.2528;MQMR=20.0875;NS=1;NUMALT=1;ODDS=895.666;PAIRED=0.905204;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=13417;QR=21946;RO=720;RPL=352;RPP=114.232;RPPR=126.072;RPR=186;RUN=1;SAF=280;SAP=4.96382;SAR=258;SF=0,1;SRF=351;SRP=3.98746;SRR=369;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon4:c.G852A:p.A284A,GAA:NM_001079804:exon4:c.G852A:p.A284A,GAA:NM_001079803:exon5:c.G852A:p.A284A;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0120;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0120;1000g2015aug_all=0.00239617;avsnp147=rs142626724;Kaviar_AF=0.0066881;Kaviar_AC=1034;Kaviar_AN=154602;ExAC_ALL=0.0069;ExAC_AFR=0.0013;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0035;ExAC_NFE=0.0107;ExAC_OTH=0.0034;ExAC_SAS=0.0027;CLNALLELEID=186554;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0806;dpsi_zscore=-0.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0063;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0046;gnomAD_exome_ASJ=0.0060;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0102;gnomAD_exome_OTH=0.0072;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0061;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0085;gnomAD_genome_ASJ=0.0210;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0027;gnomAD_genome_NFE=0.0095;gnomAD_genome_OTH=0.0091;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-415.592,0,-734.499:1348:720:538:13417:21946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-539.954,0,-763.222:1518:725:666:16241:21796 . . . . . . . . . . 0/1:-432.152,0,-729.895:1361:685:573:13839:21016 . . . . . . . . 0/1:-1057.26,0,-2080.51:1843:963:797:21820:30509:963,797 . 0/1:-757.069,0,-1286.99:1405:717:627:16619:22591:717,627 . . . . . . . . . . . . . . . . . chr17 78081526 . AGC AGCAGCGGGC 5331.19 . AB=0.610792;ABP=95.875;AC=144;AF=0.5;AN=162;AO=532;CIGAR=1M7I1M;DP=87041;DPB=3127;DPRA=0;EPP=26.5863;EPPR=61.3484;GTI=0;LEN=7;MEANALT=42;MQM=16.7293;MQMR=23.8134;NS=1;NUMALT=1;ODDS=162.712;PAIRED=0.947368;PAIREDR=0.843284;PAO=0.5;PQA=0;PQR=0;PRO=0.5;QA=10897;QR=3569;RO=134;RPL=215;RPP=45.4765;RPPR=192.026;RPR=317;RUN=1;SAF=363;SAP=156.63;SAR=169;SF=0,1;SRF=92;SRP=43.5228;SRR=42;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:.,.,-23.2008:871:134:532:10897:3569 . 1/1:.,.,0:951:124:597:11638:3169 . 1/1:.,.,0:818:106:522:10954:2752 1/1:.,.,0:1327:171:838:16570:4597 . . . . 1/1:.,.,0:979:137:582:11661:3689 . . 1/1:.,.,0:1488:202:923:18754:5487 1/1:.,.,0:781:100:458:9286:2595 1/1:.,.,0:2447:297:1513:30486:8024 0/1:.,.,-10.6464:927:132:573:12203:3703 0/1:.,.,-11.0278:836:108:490:10123:2998 . 1/1:.,.,0:1065:121:670:13849:3172 1/1:.,.,0:586:74:367:7384:2040 . 1/1:.,.,0:1152:148:717:14822:3976 1/1:.,.,0:842:100:518:10020:2552 1/1:.,.,0:1222:168:748:15421:4596 . 1/1:.,.,0:835:88:521:10475:2389 0/1:.,.,-21.3425:875:117:530:11513:3237 0/1:.,.,-19.0297:897:129:552:11475:3482 0/1:.,.,-2.82699:964:124:600:12302:3525 . . 1/1:.,.,0:809:88:527:10844:2422 1/1:.,.,0:1284:172:771:15825:4624 1/1:.,.,0:1699:225:1056:21440:5940 . . 1/1:.,.,0:849:105:522:10955:2689 1/1:.,.,0:1063:142:666:13583:3786 1/1:.,.,0:1261:178:744:15228:4609 . . 1/1:.,.,0:1126:141:690:13872:3722 1/1:.,.,0:1081:142:692:14456:3838 . 0/1:.,.,-629.38:769:418:218:4633:12126 . . 1/1:.,.,0:1226:137:776:15801:3780 0/1:.,.,-11.8451:984:135:606:12150:3729 1/1:.,.,0:1132:145:721:15314:3880 1/1:.,.,0:1451:184:902:18207:5061 . 0/1:.,.,-15.5128:824:115:501:10269:3064 1/1:.,.,0:1229:157:769:15603:4243 1/1:.,.,0:621:90:366:7168:2486 . 1/1:.,.,0:1359:162:857:17515:4248 . . 1/1:.,.,0:1125:140:688:13804:3698 1/1:.,.,0:707:89:438:8928:2278 0/1:.,.,-18.6017:1110:166:689:14047:4372 1/1:.,.,0:1115:121:712:14305:3197 1/1:.,.,0:678:66:396:8094:1728 . 1/1:.,.,0:1223:135:745:15210:3557 0/1:.,.,-24.245:1158:171:646:12920:4632 . 1/1:.,.,0:1392:185:867:17517:4954 1/1:.,.,0:1114:133:707:14403:3564 0/1:.,.,-2.87646:661:97:378:7296:2508 . 1/1:.,.,0:1413:176:878:17960:4809 1/1:.,.,0:1265:164:741:14975:4162 0/1:.,.,-53.3286:1291:194:747:15467:5293 1/1:.,.,0:689:76:452:9543:2118 1/1:.,.,0:623:76:381:7924:2088 1/1:.,.,0:1117:138:685:14503:3609 1/1:.,.,0:1341:144:830:16613:3580 1/1:.,.,0:1245:134:810:16555:3565 . . 1/1:.,.,0:1115:137:714:14836:3654 0/1:.,.,-837.003:954:514:256:5239:14697 1/1:.,.,0:1102:161:664:13348:4170 1/1:.,.,0:624:94:383:7833:2480 1/1:.,.,0:891:107:543:10700:2881 . 1/1:.,.,0:998:122:644:13075:3115 1/1:.,.,0:1309:159:809:16349:4246 . . . 0/1:-288.509,0,-2039.43:1671:940:505:8637:28765:940,505 0/1:-298.651,0,-1494.31:1203:693:397:7384:21189:693,397 1/1:-957.57,-107.046,0:1158:128:816:14332:3744:128,816 1/1:-895.445,-133.472,0:833:61:625:11768:1791:61,625 0/1:-282.691,0,-1543.17:1236:722:387:7261:21848:722,387 1/1:-947.454,-14.3764,0:1090:115:790:14217:3371:115,790 1/1:-963.329,-63.334,0:1008:83:763:13744:2385:83,763 1/1:-1037.5,-38.4621,0:1121:106:829:15154:3113:106,829 1/1:-918.732,-26.3309,0:1069:97:738:13488:2875:97,738 0/1:-300.572,0,-1779.32:1448:845:435:8062:25639:845,435 1/1:-1069.61,-33.1701,0:1147:108:851:15630:3211:108,851 1/1:-829.225,-15.527,0:912:90:665:12183:2624:90,665 1/1:-934.78,-45.0967,0:991:89:735:13399:2627:89,735 1/1:-968.708,-21.7321,0:1070:107:761:14200:3058:107,761 1/1:-859.653,-73.209,0:1052:112:727:12977:3369:112,727 1/1:-946.117,-61.9666,0:991:80:749:13489:2425:80,749 1/1:-1067.62,-51.2824,0:1092:108:815:15265:3116:108,815 1/1:-1005.99,-22.7976,0:1100:111:793:14848:3182:111,793 1/1:-889.913,-65.0659,0:855:66:646:12244:1958:66,646 1/1:-948.509,-1.82207,0:1104:111:797:14427:3369:111,797 chr17 78081529 . G A 612.94 . AB=0.238506;ABP=623.078;AC=57;AF=0.5;AN=122;AO=249;CIGAR=1X;DP=77895;DPB=1044;DPRA=0;EPP=39.8556;EPPR=37.1334;GTI=0;LEN=1;MEANALT=3;MQM=29.5181;MQMR=16.2675;NS=1;NUMALT=1;ODDS=102.298;PAIRED=0.84739;PAIREDR=0.945455;PAO=0;PQA=0;PQR=0;PRO=0;QA=6788;QR=24447;RO=770;RPL=243;RPP=492.847;RPPR=86.44;RPR=6;RUN=1;SAF=92;SAP=39.8556;SAR=157;SF=0,1;SRF=437;SRP=33.5124;SRR=333;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs5822325;Kaviar_AF=0.0061254;Kaviar_AC=947;Kaviar_AN=154602;ExAC_ALL=0.0042;ExAC_AFR=0.0084;ExAC_AMR=0.0014;ExAC_EAS=0.0073;ExAC_FIN=0.0027;ExAC_NFE=0.0047;ExAC_OTH=0.0049;ExAC_SAS=0.0013;CLNALLELEID=134568;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2038;dpsi_zscore=-0.694;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0059;gnomAD_exome_AFR=0.0153;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0.0078;gnomAD_exome_FIN=0.0036;gnomAD_exome_NFE=0.0078;gnomAD_exome_OTH=0.0050;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-182.116,0,-726.2:1044:770:249:6788:24447 . 0/1:-180.068,0,-746.591:1156:862:268:7415:27226 . 0/1:-212.614,0,-656.923:996:705:250:6785:22777 . . . . . 0/1:-228.718,0,-774.063:1169:843:288:8036:26659 . . 0/1:-292.099,0,-1066.77:1785:1312:410:11463:41375 0/1:-143.989,0,-554.756:925:680:221:5989:21202 . 0/1:-184.291,0,-736.464:1092:823:244:6939:26351 0/1:-216.991,0,-694.33:1016:722:266:7207:22934 . 0/1:-184.55,0,-825.005:1265:962:273:7752:30595 0/1:-117.713,0,-394.438:712:533:158:4544:16544 . 0/1:-242.08,0,-867.663:1374:1023:316:8777:32646 . 0/1:-253.071,0,-983.785:1446:1067:347:9706:33689 . 0/1:-154.936,0,-611.808:1013:763:225:6435:24073 . . 0/1:-210.56,0,-746.887:1133:837:273:7722:26664 . . 0/1:-271.89,0,-648.336:1035:740:269:7832:23911 0/1:-236.716,0,-883.598:1517:1120:350:9666:35482 0/1:-362.075,0,-1456.85:2013:1474:479:13370:46260 . . . 0/1:-290.869,0,-830.08:1302:937:330:9131:29721 . . . 0/1:-259.078,0,-944.304:1355:990:333:9224:31419 0/1:-209.009,0,-776.365:1293:948:300:8435:30540 . . . . . 0/1:-189.999,0,-743.801:1176:862:272:7700:27020 0/1:-223.736,0,-919.026:1331:990:300:8512:32146 0/1:-264.599,0,-1213.54:1704:1276:381:10607:40289 . 0/1:-198.447,0,-682.807:1002:722:251:6691:22928 0/1:-211.671,0,-1068.57:1432:1078:309:8615:34167 . . 0/1:-269.028,0,-1142.34:1629:1204:371:10412:38353 . . 0/1:-191.961,0,-978.519:1318:1000:291:8082:31813 0/1:-144.524,0,-539.997:852:617:202:5527:19668 0/1:-342.932,0,-793.643:1362:948:362:10116:29925 0/1:-225.162,0,-924.434:1334:992:308:8767:31622 . . . 0/1:-238.154,0,-808.408:1378:1005:324:9179:31444 . 0/1:-327.239,0,-1007.98:1658:1213:405:11300:38499 . 0/1:-115.161,0,-414.664:772:556:186:5222:16743 . 0/1:-271.143,0,-1181.76:1697:1273:385:10977:40167 . 0/1:-269.001,0,-972.791:1520:1112:362:10014:35455 0/1:-133.958,0,-609.23:822:624:183:5194:20110 . . . . . . 0/1:-223.389,0,-861.186:1326:987:310:8508:31654 . 0/1:-188.713,0,-849.474:1307:965:304:8250:30024 0/1:-141.98,0,-507.017:748:544:189:5224:17588 . . 0/1:-226.559,0,-808.928:1230:908:295:8236:29155 0/1:-231.674,0,-1030.74:1563:1166:355:9731:36936 . . . 0/0:0,-57.6914,-3411.3:1839:1613:202:5948:51499:1613,202 0/0:0,-25.3339,-2584.74:1329:1172:150:4396:37896:1172,150 0/1:-359.383,0,-1747.09:1393:1043:331:9507:34209:1043,331 0/1:-212.573,0,-1476.06:1001:776:214:6227:25172:776,214 0/0:0,-137.525,-2729.54:1322:1203:105:3053:38184:1203,105 0/1:-356.68,0,-1728.96:1321:1002:311:9019:32430:1002,311 0/1:-291.719,0,-1674.01:1229:950:268:7722:30759:950,268 0/1:-317.151,0,-1873.94:1351:1050:289:8579:34319:1050,289 0/1:-303.813,0,-1744.51:1291:1000:276:8073:32475:1000,276 0/0:0,-96.0852,-3124.31:1584:1410:159:4501:45522:1410,159 0/1:-407.562,0,-1864.29:1421:1059:346:9928:34346:1059,346 0/1:-270.742,0,-1580.33:1096:843:241:7008:27610:843,241 0/1:-295.627,0,-1645.48:1199:920:271:7768:30056:920,271 0/1:-289.875,0,-1707.84:1264:965:282:8071:31400:965,282 0/1:-297.637,0,-1646.15:1261:971:278:8142:31379:971,278 0/1:-297.26,0,-1590.85:1211:922:273:7949:29488:922,273 0/1:-286.487,0,-1854.02:1309:1019:281:8323:33140:1019,281 0/1:-185.51,0,-1870.49:1273:1020:238:6644:33180:1020,238 0/1:-265.904,0,-1467.57:1046:801:229:6820:26193:801,229 0/1:-373.568,0,-1774.38:1353:1025:315:9200:33102:1025,315 chr17 78081655 . G A 3818.01 . AB=0.378289;ABP=159.471;AC=1;AF=0.5;AN=2;AO=460;CIGAR=1X;DP=1216;DPB=1216;DPRA=0;EPP=8.4673;EPPR=100.447;GTI=0;LEN=1;MEANALT=3;MQM=25.3913;MQMR=29.4273;NS=1;NUMALT=1;ODDS=879.129;PAIRED=0.878261;PAIREDR=0.901049;PAO=0;PQA=0;PQR=0;PRO=0;QA=11387;QR=19360;RO=667;RPL=229;RPP=3.02918;RPPR=3.274;RPR=231;RUN=1;SAF=198;SAP=22.3458;SAR=262;SF=0;SRF=301;SRP=16.7651;SRR=366;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon5:c.G915A:p.G305G,GAA:NM_001079804:exon5:c.G915A:p.G305G,GAA:NM_001079803:exon6:c.G915A:p.G305G;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000399361;avsnp147=rs150343359;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0007;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0016;ExAC_OTH=0.0026;ExAC_SAS=0.0004;CLNALLELEID=186555;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2573;dpsi_zscore=0.825;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0019;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-400.492,0,-1043.75:1216:667:460:11387:19360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78081661 . A T 7369.02 . AB=0.422434;ABP=46.8025;AC=25;AF=0.5;AN=46;AO=354;CIGAR=1X;DP=31435;DPB=838;DPRA=0;EPP=29.7305;EPPR=43.7952;GTI=0;LEN=1;MEANALT=3;MQM=25.596;MQMR=30.5223;NS=1;NUMALT=1;ODDS=778.38;PAIRED=0.872881;PAIREDR=0.916201;PAO=0;PQA=0;PQR=0;PRO=0;QA=8332;QR=9059;RO=358;RPL=189;RPP=6.54354;RPPR=3.0103;RPR=165;RUN=1;SAF=165;SAP=6.54354;SAR=189;SF=0,1;SRF=141;SRP=38.045;SRR=217;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon5:c.A921T:p.A307A,GAA:NM_001079804:exon5:c.A921T:p.A307A,GAA:NM_001079803:exon6:c.A921T:p.A307A;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.1213;esp6500siv2_ea=0.0719;esp6500siv2_all=0.1213;esp6500siv2_ea=0.0719;1000g2015aug_all=0.110224;avsnp147=rs1800303;Kaviar_AF=0.0723212;Kaviar_AC=11181;Kaviar_AN=154602;ExAC_ALL=0.0802;ExAC_AFR=0.2431;ExAC_AMR=0.0502;ExAC_EAS=0.0004;ExAC_FIN=0.0664;ExAC_NFE=0.0687;ExAC_OTH=0.1089;ExAC_SAS=0.0925;CLNALLELEID=98399;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1893;dpsi_zscore=0.702;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0717;gnomAD_exome_AFR=0.2341;gnomAD_exome_AMR=0.0473;gnomAD_exome_ASJ=0.0734;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.0598;gnomAD_exome_NFE=0.0656;gnomAD_exome_OTH=0.0786;gnomAD_exome_SAS=0.0885;gnomAD_genome_ALL=0.1118;gnomAD_genome_AFR=0.2357;gnomAD_genome_AMR=0.0489;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0596;gnomAD_genome_NFE=0.0713;gnomAD_genome_OTH=0.0733;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-349.079,0,-456.757:838:358:354:8332:9059 . . . . . . . . . . . 0/1:-911.66,0,-945.524:1917:828:847:20705:21589 . 0/1:-1220.95,0,-1397.4:2848:1213:1204:28772:31299 . . . . . . 0/1:-583.037,0,-722.214:1391:634:568:13613:16196 . . . . . . . . . 0/1:-441.571,0,-660.533:1148:546:447:10905:13983 . . 0/1:-444.147,0,-534.817:963:413:412:10216:10420 . . . . . . . 0/1:-553.716,0,-629.018:1348:584:564:13711:15293 . . . . . . . . . . . 0/1:-302.579,0,-434.467:806:361:327:7727:9289 . . . 0/1:-685.818,0,-1031.84:1772:788:721:17622:20090 . 0/1:-419.385,0,-504.484:932:405:389:9295:10996 0/1:-583.099,0,-920.231:1597:757:623:14738:19659 . . . . 1/1:-1729.68,-268.745,0:1390:51:1121:27708:1165 . 0/1:-689.4,0,-881.834:1562:684:670:16417:18706 . . . . . 0/1:-695.676,0,-784.243:1551:660:695:16840:17474 0/1:-393.1,0,-448.302:888:372:375:9069:9700 . 0/1:-545.148,0,-596.363:1351:560:570:13890:14686 . 0/1:-652.853,0,-729.239:1538:666:669:16344:17022 . . 1/1:-1756,-303.84,0:1335:24:1094:26876:552 . . 0/1:-326.149,0,-409.302:766:336:303:7537:8493 . 0/1:-631.719,0,-990.569:1639:764:653:15693:19401 . . . . . . . . . . . . 0/1:-938.59,0,-1251.88:1325:685:581:16413:20103:685,581 . . . . . . 0/1:-1096.57,0,-1291.29:1394:687:647:18408:20565:687,647 0/1:-981.951,0,-869.102:1136:510:584:16143:14951:510,584 . . . . chr17 78081707 . G A 11229.08 . AB=0.427785;ABP=35.9408;AC=188;AF=0.5;AN=226;AO=311;CIGAR=1X;DP=108088;DPB=727;DPRA=0;EPP=3.57586;EPPR=81.8384;GTI=0;LEN=1;MEANALT=3;MQM=27.2669;MQMR=28.3101;NS=1;NUMALT=1;ODDS=673.748;PAIRED=0.935691;PAIREDR=0.902235;PAO=0;PQA=0;PQR=0;PRO=0;QA=7850;QR=10142;RO=358;RPL=217;RPP=108.644;RPPR=26.3263;RPR=94;RUN=1;SAF=108;SAP=66.0249;SAR=203;SF=0,1;SRF=124;SRP=76.4036;SRR=234;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6908;esp6500siv2_ea=0.7545;esp6500siv2_all=0.6908;esp6500siv2_ea=0.7545;1000g2015aug_all=0.604433;avsnp147=rs2252455;Kaviar_AF=0.6232;Kaviar_AC=96348;Kaviar_AN=154602;ExAC_ALL=0.7503;ExAC_AFR=0.6361;ExAC_AMR=0.6277;ExAC_EAS=0.6317;ExAC_FIN=0.8270;ExAC_NFE=0.7978;ExAC_OTH=0.7732;ExAC_SAS=0.7114;CLNALLELEID=98400;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0177;dpsi_zscore=0.121;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6960;gnomAD_exome_AFR=0.5745;gnomAD_exome_AMR=0.5063;gnomAD_exome_ASJ=0.7851;gnomAD_exome_EAS=0.5622;gnomAD_exome_FIN=0.7793;gnomAD_exome_NFE=0.7644;gnomAD_exome_OTH=0.7204;gnomAD_exome_SAS=0.6897;gnomAD_genome_ALL=0.6664;gnomAD_genome_AFR=0.5312;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5379;gnomAD_genome_FIN=0.7603;gnomAD_genome_NFE=0.7398;gnomAD_genome_OTH=0.7255;Whole_Blood=Whole_Blood::0.306233::-0.329714;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-317.427,0,-495.049:727:358:311:7850:10142 0/1:-474.487,0,-745.942:1081:532:457:11644:14981 1/1:-1203.93,-199.198,0:831:17:705:17706:238 0/1:-284.093,0,-407.436:622:281:290:7198:8138 1/1:-1190.51,-200.92,0:893:20:746:19007:434 0/1:-506.336,0,-1030.71:1277:662:512:13148:19152 1/1:-1269.28,-208.742,0:874:17:755:18828:324 1/1:-1485.66,-252.077,0:1069:21:898:22512:336 0/1:-389.284,0,-647.149:877:431:374:9482:12372 0/1:-445.896,0,-754.808:1090:548:458:11215:15264 0/1:-388.037,0,-577.293:863:421:384:9624:11880 0/1:-475.156,0,-542.726:890:412:419:10924:11370 1/1:-1342.96,-224.661,0:927:12:800:20027:269 0/1:-370.302,0,-535.399:889:420:387:9212:11510 0/1:-348.528,0,-519.847:737:372:321:8549:10383 1/1:-2098.47,-356.234,0:1478:24:1265:31793:442 1/1:-906.996,-154.409,0:687:19:570:14384:319 1/1:-3024.85,-513.559,0:2192:46:1870:47457:798 1/1:-1181.76,-191.383,0:812:18:695:17487:296 1/1:-1060.64,-174.895,0:746:18:635:16245:287 0/1:-337.792,0,-527.555:740:374:305:8034:10797 1/1:-1502.37,-255.791,0:1014:12:879:22579:186 1/1:-849.8,-149.653,0:611:7:517:12812:98 . 1/1:-1517.08,-260.346,0:1104:23:926:23189:379 1/1:-1106.21,-178.966,0:858:28:704:17637:528 1/1:-1544,-251.705,0:1102:26:915:23246:531 0/1:-409.981,0,-611.735:884:446:367:9669:12642 1/1:-1073.95,-185.502,0:798:13:670:16236:266 1/1:-1136.44,-185.912,0:786:12:676:17463:270 1/1:-1212.36,-195.806,0:826:13:700:17979:239 1/1:-1401.34,-232.192,0:955:12:808:20606:212 . 0/1:-507.204,0,-905.322:1243:621:518:13256:17783 1/1:-1257.66,-211.679,0:862:17:740:18586:282 1/1:-1502.68,-245.347,0:1109:30:917:23118:511 1/1:-1982.19,-323.533,0:1349:24:1157:29753:405 0/1:-268.24,0,-532.726:702:347:285:7007:10044 0/1:-427.937,0,-631.907:960:461:411:10158:13025 1/1:-1117.54,-195.46,0:777:7:670:16504:123 1/1:-1553.31,-258.994,0:1073:19:915:23383:308 1/1:-1559.55,-264.132,0:1112:24:954:24472:428 0/1:-481.8,0,-587.08:907:406:429:10991:11452 0/1:-336.969,0,-656.859:875:460:348:8507:13186 1/1:-1429.97,-235.029,0:1009:21:865:22023:398 1/1:-1336.35,-234.46,0:997:21:843:21676:383 0/1:-380.226,0,-711.633:941:477:384:9851:13604 0/1:-316.599,0,-416.148:658:310:287:7537:8638 0/1:-331.206,0,-631.719:831:438:332:8186:12318 0/1:-527.28,0,-706.058:1084:509:484:12229:14321 1/1:-1606.13,-274.139,0:1117:14:956:23980:203 1/1:-1254.29,-204.491,0:901:24:752:19037:434 1/1:-1553.27,-253.979,0:1094:26:933:23334:443 1/1:-1859.63,-313.442,0:1313:23:1106:28439:329 0/1:-219.804,0,-656.495:814:443:285:6848:12217 1/1:-960.208,-174.471,0:690:6:594:14790:97 1/1:-1576.57,-273.555,0:1108:14:955:23796:218 1/1:-797.416,-134.952,0:591:14:488:11924:196 0/1:-375.699,0,-517.795:770:365:328:8709:10544 1/1:-1735.14,-291.379,0:1215:17:1026:25867:291 0/1:-317.742,0,-418.698:701:319:321:7812:8731 0/1:-524.124,0,-769.719:1216:554:556:13996:15584 1/1:-1267.66,-218.033,0:895:14:769:19689:240 1/1:-972.464,-164.453,0:730:16:605:14810:271 1/1:-1703.68,-280.95,0:1213:31:1029:26082:576 1/1:-1476.65,-256.5,0:1062:23:912:22478:358 1/1:-695.702,-111.657,0:546:24:437:11290:411 0/1:-446.31,0,-670.856:965:478:411:10695:13207 1/1:-1486.91,-257.107,0:1047:15:889:22916:210 1/1:-1321.01,-217.871,0:1038:30:856:21571:579 0/1:-387.545,0,-648.008:933:461:406:10015:12901 1/1:-1657,-274.478,0:1153:24:977:25553:363 1/1:-1483.43,-241.963,0:1065:23:892:22323:462 1/1:-766.411,-131.921,0:610:20:492:12760:341 0/1:-407.103,0,-553.112:830:393:367:9305:11202 1/1:-1764.27,-288.287,0:1229:27:1055:26618:491 1/1:-1566.39,-264.469,0:1110:18:947:24191:314 1/1:-1507.43,-263.397,0:1114:23:943:23614:367 1/1:-928.877,-160.848,0:663:9:559:14056:126 1/1:-696.627,-113.502,0:532:14:435:10665:280 1/1:-1304.37,-225.867,0:1005:29:836:21205:477 1/1:-1700.15,-299.556,0:1266:25:1060:26219:370 1/1:-1603.63,-288.671,0:1191:19:1026:25520:323 0/1:-410.419,0,-625.955:901:445:386:9875:12529 0/1:-351.332,0,-719.439:976:501:396:9675:14157 1/1:-1325.05,-237.609,0:996:18:838:21471:252 0/1:-259.258,0,-416.57:632:305:267:6660:8548 1/1:-1435.1,-250.539,0:999:12:858:22372:181 1/1:-848.299,-149.24,0:614:8:521:12980:112 1/1:-1070.83,-179.322,0:802:16:661:16699:357 0/1:-464.554,0,-867.744:1206:598:504:12608:16710 1/1:-1335.5,-219.094,0:945:17:800:20055:303 1/1:-1755.57,-270.538,0:1232:32:1013:25897:548 0/1:-567.675,0,-767.194:1148:535:497:12945:15224 0/1:-590.178,0,-859.731:1308:627:557:13814:17304 . 0/1:-932.922,0,-1187.71:1141:571:525:15289:17756:571,525 0/1:-700.137,0,-894.063:851:433:392:11389:13569:433,392 1/1:-2491.8,-304.869,0:1066:2:1019:29794:28:2,1019 1/1:-1679.72,-213.677,0:749:1:713:20331:14:1,713 0/1:-770.58,0,-987.784:931:474:434:12667:14863:474,434 1/1:-2241.23,-270.707,0:996:8:939:26957:174:8,939 1/1:-1964.94,-243.469,0:882:5:831:23738:92:5,831 1/1:-2284.44,-284.37,0:1023:6:979:28180:137:6,979 1/1:-2053.42,-254.899,0:885:2:853:24731:28:2,853 0/1:-866.54,0,-1120.63:1061:531:497:14287:16647:531,497 1/1:-2288.38,-279.356,0:980:0:928:27016:0:0,928 1/1:-1755.45,-216.119,0:753:2:724:20873:28:2,724 1/1:-1853.28,-236.96,0:822:1:787:22358:14:1,787 1/1:-1865.58,-226.641,0:808:3:773:22405:86:3,773 1/1:-2439.95,-297.106,0:1103:10:1036:29865:242:10,1036 1/1:-1951.41,-252.564,0:880:0:839:24021:0:0,839 1/1:-2402.16,-292.505,0:1067:5:998:28986:114:5,998 1/1:-2150.67,-268.592,0:943:2:895:26001:63:2,895 1/1:-1937.41,-232.893,0:838:4:799:23591:100:4,799 1/1:-2408.32,-268.826,0:1094:19:1016:29517:496:19,1016 chr17 78082221 . C T 8264.39 . AB=0.446777;ABP=35.8331;AC=2;AF=0.5;AN=4;AO=596;CIGAR=1X;DP=3549;DPB=1334;DPRA=0;EPP=16.1266;EPPR=8.65997;GTI=0;LEN=1;MEANALT=3;MQM=25.9346;MQMR=28.7448;NS=1;NUMALT=1;ODDS=1448.68;PAIRED=0.840604;PAIREDR=0.842183;PAO=0;PQA=0;PQR=0;PRO=0;QA=15878;QR=20957;RO=678;RPL=263;RPP=20.863;RPPR=85.001;RPR=333;RUN=1;SAF=303;SAP=3.37464;SAR=293;SF=0,1;SRF=307;SRP=16.1288;SRR=371;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0166;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0166;1000g2015aug_all=0.00519169;avsnp147=rs41292402;Kaviar_AF=0.0107631;Kaviar_AC=1664;Kaviar_AN=154602;ExAC_ALL=0.0104;ExAC_AFR=0.0028;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0.0147;ExAC_NFE=0.0152;ExAC_OTH=0.0057;ExAC_SAS=0.0044;CLNALLELEID=98369;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5805;dpsi_zscore=-1.168;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0104;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0090;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0122;gnomAD_exome_NFE=0.0162;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0039;gnomAD_genome_ALL=0.0094;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0115;gnomAD_genome_NFE=0.0136;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-641.544,0,-1010.33:1334:678:596:15878:20957 . . . . . . . . . . . . . . . 0/1:-1807.19,0,-2490.51:2215:1211:958:30299:38461:1211,958 . . . . . . . . . . chr17 78082503 . AG AA 27935.20 . AB=0;ABP=0;AC=6;AF=1;AN=6;AO=1084;CIGAR=1M1X;DP=3607;DPB=1126;DPRA=0;EPP=8.01831;EPPR=3.0103;GTI=0;LEN=1;MEANALT=6;MQM=37.9419;MQMR=22.5;NS=1;NUMALT=1;ODDS=1496.19;PAIRED=0.944649;PAIREDR=1;PAO=1;PQA=23;PQR=23;PRO=1;QA=32447;QR=63;RO=2;RPL=411;RPP=140.518;RPPR=3.0103;RPR=673;RUN=1;SAF=438;SAP=89.6769;SAR=646;SF=1;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=GAA:NM_000152:exon8:c.1203delG:p.Q401fs,GAA:NM_001079804:exon8:c.1203delG:p.Q401fs,GAA:NM_001079803:exon9:c.1203delG:p.Q401fs;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2683.71,-325.435,0:1125:2:1084:32447:63:2,1084 . . . . . 1/1:-3294.83,-357.645,0:1438:23:1345:39855:694:23,1345 . . . 1/1:-2485.62,-297.001,0:1044:3:1003:29583:93:3,1003 . chr17 78082504 . G A 16097.52 . AB=0.447896;ABP=26.544;AC=183;AF=0.5;AN=220;AO=447;CIGAR=1X;DP=135172;DPB=998;DPRA=0;EPP=5.15263;EPPR=8.38415;GTI=0;LEN=1;MEANALT=3;MQM=30.34;MQMR=31.196;NS=1;NUMALT=1;ODDS=1193.88;PAIRED=0.868009;PAIREDR=0.832323;PAO=0;PQA=0;PQR=0;PRO=0;QA=11454;QR=14728;RO=495;RPL=162;RPP=76.5052;RPPR=71.5543;RPR=285;RUN=1;SAF=196;SAP=17.7054;SAR=251;SF=0,1;SRF=205;SRP=34.705;SRR=290;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon8:c.G1203A:p.Q401Q,GAA:NM_001079804:exon8:c.G1203A:p.Q401Q,GAA:NM_001079803:exon9:c.G1203A:p.Q401Q;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6708;esp6500siv2_ea=0.7380;esp6500siv2_all=0.6708;esp6500siv2_ea=0.7380;1000g2015aug_all=0.602835;avsnp147=rs1800304;Kaviar_AF=0.668859;Kaviar_AC=103407;Kaviar_AN=154602;ExAC_ALL=0.6784;ExAC_AFR=0.5436;ExAC_AMR=0.4620;ExAC_EAS=0.5320;ExAC_FIN=0.7669;ExAC_NFE=0.7474;ExAC_OTH=0.7209;ExAC_SAS=0.6766;CLNALLELEID=98370;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2169;dpsi_zscore=0.755;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6705;gnomAD_exome_AFR=0.5285;gnomAD_exome_AMR=0.4726;gnomAD_exome_ASJ=0.7785;gnomAD_exome_EAS=0.5311;gnomAD_exome_FIN=0.7664;gnomAD_exome_NFE=0.7401;gnomAD_exome_OTH=0.7058;gnomAD_exome_SAS=0.6747;gnomAD_genome_ALL=0.6654;gnomAD_genome_AFR=0.5298;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5362;gnomAD_genome_FIN=0.7605;gnomAD_genome_NFE=0.7392;gnomAD_genome_OTH=0.7253;Whole_Blood=Whole_Blood::0.306233::-0.329714;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-535.294,0,-781.672:998:495:447:11454:14728 0/1:-634.669,0,-1087.69:1390:707:572:14732:20739 1/1:-1747.2,-247.078,0:1155:42:991:24918:889 0/1:-323.278,0,-643.159:752:399:304:7543:11894 1/1:-1952.02,-272.38,0:1274:49:1099:27883:1042 0/1:-1013.13,0,-1347.88:1770:869:803:20200:25580 1/1:-1559.01,-236.566,0:1015:32:875:22221:634 1/1:-2041.1,-304.605,0:1336:45:1138:29028:823 0/1:-613.526,0,-938.632:1238:616:534:13466:18189 0/1:-782.348,0,-989.648:1371:649:624:16089:19202 0/1:-515.517,0,-783.159:1043:522:457:11629:15443 1/1:-1892.66,-261.314,0:1199:42:1043:26461:919 1/1:-1865.01,-276.596,0:1193:39:1047:26246:904 0/1:-598.427,0,-694.495:1074:490:497:12818:14617 0/1:-481.003,0,-836.034:1034:526:420:10615:15356 1/1:-3036.19,-458.923,0:1869:48:1652:42293:964 1/1:-1460.24,-232.365,0:982:28:863:21131:633 1/1:-4207.53,-613.697,0:2651:75:2330:59413:1662 1/1:-1746.71,-266.174,0:1123:25:985:24979:545 1/1:-1544.85,-234.393,0:986:24:853:21679:488 0/1:-532.424,0,-720.792:999:488:445:11448:14625 1/1:-2003.27,-322.859,0:1282:23:1138:28605:436 1/1:-1225.16,-195.164,0:763:12:670:17154:219 . 1/1:-2214.31,-337.647,0:1428:33:1247:31674:706 1/1:-1499.52,-252.402,0:1013:22:888:22232:383 1/1:-2006.96,-281.065,0:1331:60:1136:28591:1270 0/1:-665.343,0,-948.392:1244:608:548:13981:18038 1/1:-1585.06,-251.64,0:1049:28:915:23022:545 1/1:-1571.64,-233.388,0:991:29:865:21818:604 1/1:-1623.66,-235.433,0:1019:36:891:22997:701 1/1:-2014.65,-296.799,0:1243:36:1089:28381:732 . 0/1:-714.453,0,-1059.11:1390:695:606:15499:20473 1/1:-1705.5,-254.201,0:1092:31:951:24434:664 1/1:-2089.66,-308.326,0:1324:37:1166:29709:764 1/1:-2626.5,-423.409,0:1696:36:1479:37111:680 0/1:-608.195,0,-886.724:1112:554:470:12348:16597 0/1:-600.688,0,-972.843:1218:630:517:13201:18533 1/1:-1551.4,-236.793,0:981:20:847:21498:415 1/1:-2307.7,-351.444,0:1478:45:1285:32430:958 1/1:-1926.7,-284.385,0:1247:39:1081:27442:793 0/1:-669.601,0,-1035.36:1312:665:563:14713:19514 0/1:-551.28,0,-955.75:1171:600:485:12326:17442 1/1:-2335.18,-340.298,0:1504:47:1309:33125:1016 1/1:-1950.74,-275.968,0:1295:50:1123:28780:1131 0/1:-612.381,0,-1007.96:1275:651:541:13801:19084 0/1:-328.056,0,-632.585:751:399:296:7487:11635 0/1:-527.043,0,-809.481:999:504:432:11153:15068 0/1:-779.18,0,-1076.13:1445:702:639:16719:20817 1/1:-2313.89,-358.51,0:1473:35:1282:32498:671 1/1:-1713.33,-275.67,0:1168:36:1008:25017:687 1/1:-2354.94,-344.293,0:1453:40:1275:33102:743 1/1:-2448.58,-364.472,0:1580:47:1374:35354:1082 0/1:-419.938,0,-849.057:1043:539:406:10031:15642 1/1:-1463.8,-217.281,0:947:36:833:20830:765 1/1:-2120.71,-322.846,0:1380:39:1194:30323:784 1/1:-1064.15,-158.316,0:762:31:630:15310:643 0/1:-431.481,0,-708.188:873:447:369:9523:13319 1/1:-2250.35,-340.381,0:1459:46:1258:32751:893 0/1:-432.134,0,-651.982:868:425:375:9253:12801 0/1:-769.987,0,-1374.72:1710:883:700:16990:26376 1/1:-2045.5,-310.255,0:1283:29:1128:28875:610 1/1:-1244.29,-183.075,0:862:39:726:18012:787 1/1:-2444.75,-361.618,0:1532:44:1324:33604:876 1/1:-2139.87,-325.298,0:1354:34:1187:30485:661 1/1:-1231.74,-194.408,0:806:21:699:18218:409 0/1:-690.287,0,-869.534:1187:557:543:14001:16630 1/1:-1787.93,-267.78,0:1173:38:1020:25368:738 1/1:-2036.6,-297.502,0:1367:52:1175:29866:1108 0/1:-613.31,0,-1016.74:1268:655:532:13740:19172 1/1:-2605.33,-376.944,0:1627:56:1420:36398:1161 1/1:-2218.57,-311.338,0:1450:63:1252:31850:1318 1/1:-1087.02,-196.689,0:799:17:692:16740:374 0/1:-540.335,0,-833.237:1035:533:445:11589:15747 1/1:-2192.22,-347.463,0:1450:34:1274:31319:694 1/1:-2144.56,-324.707,0:1425:34:1218:30736:751 1/1:-2345.2,-360.381,0:1514:42:1339:33895:929 1/1:-1195.61,-177.434,0:804:30:693:17223:625 1/1:-986.127,-153.152,0:678:23:588:14382:536 1/1:-2088.86,-309.563,0:1362:36:1175:29257:838 1/1:-2152.9,-336.678,0:1410:35:1236:30766:628 1/1:-2306.21,-356.252,0:1510:42:1303:33523:849 0/1:-634.931,0,-981.426:1247:650:521:12948:19468 0/1:-559.328,0,-729.835:1049:496:487:12476:14734 1/1:-1965.9,-298.842,0:1229:28:1085:27858:614 0/1:-428.205,0,-700.115:834:422:355:9310:13017 1/1:-2114.23,-326.301,0:1365:37:1191:30047:690 1/1:-1203.97,-196.063,0:788:17:686:16638:335 1/1:-1614.96,-256.71,0:1088:30:940:23034:580 0/1:-760.766,0,-1207.29:1520:788:638:17029:23093 1/1:-1977.44,-299.501,0:1238:29:1098:28296:559 1/1:-2335.57,-323.616,0:1492:59:1286:33480:1242 0/1:-645.198,0,-1111.33:1385:722:570:14227:21009 0/1:-759.974,0,-1088.76:1495:747:648:16859:21638 . 0/1:-1102.82,0,-1556.28:1429:759:639:18561:23723:759,639 0/1:-1134.79,0,-1249.88:1279:619:625:18077:19354:619,625 1/1:-3256.42,-388.886,0:1366:7:1327:38698:158:7,1327 1/1:-1967.42,-226.085,0:837:9:804:23846:267:9,804 0/1:-1096.91,0,-1163.43:1200:586:585:17148:18468:586,585 1/1:-3187.43,-381.467,0:1372:5:1311:38825:167:5,1311 1/1:-2736.6,-319.678,0:1129:6:1096:33032:175:6,1096 1/1:-3205.43,-387.675,0:1368:8:1332:38944:221:8,1332 . 0/1:-1035.94,0,-1276.7:1251:623:589:16812:19642:623,589 1/1:-2910.96,-342.735,0:1221:7:1181:34907:197:7,1181 1/1:-2319.89,-280.355,0:975:5:946:27622:128:5,946 1/1:-2773.92,-322.891,0:1171:9:1129:33398:236:9,1129 1/1:-2516.26,-299.244,0:1049:5:1016:30042:92:5,1016 . 1/1:-2981.71,-352.905,0:1278:10:1228:36359:275:10,1228 1/1:-3122.37,-378.1,0:1339:11:1292:37951:287:11,1292 1/1:-2505.66,-301.795,0:1073:8:1041:30345:235:8,1041 . 1/1:-3268.36,-371.416,0:1388:14:1332:39762:460:14,1332 chr17 78083724 . ACA ACG,CCA 2708.76 . AB=0;ABP=0;AC=2,0;AF=0;AN=28;AO=55;CIGAR=1X;DP=13718;DPB=1038;DPRA=0;EPP=57.0602;EPPR=43.517;GTI=0;LEN=1;MEANALT=3;MQM=36.0182;MQMR=38.9683;NS=1;NUMALT=1;ODDS=1038.58;PAIRED=0.909091;PAIREDR=0.957011;PAO=0;PQA=0;PQR=0;PRO=0;QA=1093;QR=28759;RO=977;RPL=36;RPP=14.4204;RPPR=36.6359;RPR=19;RUN=1;SAF=41;SAP=31.7922;SAR=14;SF=1;SRF=585;SRP=85.7996;SRR=392;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5164;dpsi_zscore=-1.107;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-2333.2:1038:977:.,55:.,1093:28759:977,55 . 0/0:.,.,.,.,.,-2316.14:1102:1024:.,65:.,1604:29378:1024,65 0/0:.,.,.,.,.,-1407.2:657:617:.,37:.,930:17821:617,37 0/0:.,.,.,.,.,-2031.67:929:870:.,53:.,1056:24904:870,53 0/0:.,.,.,.,.,-2363.97:1135:1047:.,82:.,1911:30232:1047,82 0/0:.,.,.,.,.,-2027.66:969:902:.,58:.,1452:25662:902,58 0/0:.,.,.,.,.,-2212.27:1059:983:.,67:.,1620:28419:983,67 0/0:.,.,.,.,.,-2071.68:954:894:.,52:.,1229:25765:894,52 0/0:.,.,.,.,.,-2285.03:1037:974:.,61:.,1212:28412:974,61 . . 0/0:.,.,.,.,.,-1777.86:855:801:.,48:.,1205:22756:801,48 . 0/0:.,.,.,.,.,-2192.23:1034:965:.,66:.,1615:27854:965,66 1/1:-2179.26,-252.476,0,.,.,.:949:5:848,.:26565,.:150:5,848 0/0:.,.,.,.,.,-2242.87:1075:1004:.,67:.,1628:28817:1004,67 0/0:.,.,.,.,.,-1998.25:925:864:.,58:.,1412:25036:864,58 . . chr17 78083725 . CA CG 25031.46 . AB=0;ABP=0;AC=20;AF=1;AN=20;AO=1091;CIGAR=1M1X;DP=10077;DPB=1136;DPRA=0;EPP=83.4225;EPPR=4.45795;GTI=0;LEN=1;MEANALT=8;MQM=37.8882;MQMR=38.8333;NS=1;NUMALT=1;ODDS=1463.09;PAIRED=0.940422;PAIREDR=0.833333;PAO=2;PQA=63;PQR=0;PRO=0;QA=33544;QR=160;RO=6;RPL=577;RPP=10.91;RPPR=4.45795;RPR=514;RUN=1;SAF=640;SAP=74.1076;SAR=451;SF=1;SRF=4;SRP=4.45795;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2788.18,-316.668,0:1135:6:1091:33544:160:6,1091 1/1:-1647.12,-186.938,0:672:3:648:19888:106:3,648 . 1/1:-2930.55,-342.28,0:1177:2:1145:34934:51:2,1145 1/1:-2608.64,-300.428,0:1007:0:992:31021:0:0,992 1/1:-2719.37,-316.292,0:1089:2:1054:32890:48:2,1054 1/1:-2454.4,-277.918,0:977:3:943:29160:103:3,943 . . . 1/1:-2214.03,-256.816,0:898:2:867:26825:57:2,867 . 1/1:-2649.83,-306.944,0:1067:4:1036:31679:86:4,1036 . 1/1:-2759.03,-313.158,0:1108:5:1075:33138:145:5,1075 1/1:-2449.9,-275.597,0:947:2:926:28889:56:2,926 . . chr17 78083726 . A G 14176.22 . AB=0.458683;ABP=15.3916;AC=167;AF=0.5;AN=204;AO=383;CIGAR=1X;DP=97345;DPB=835;DPRA=0;EPP=16.6231;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=28.9164;MQMR=31.46;NS=1;NUMALT=1;ODDS=1067.1;PAIRED=0.874674;PAIREDR=0.8425;PAO=0;PQA=0;PQR=0;PRO=0;QA=10188;QR=11323;RO=400;RPL=205;RPP=7.14347;RPPR=9.28586;RPR=178;RUN=1;SAF=240;SAP=56.3559;SAR=143;SF=0,1;SRF=251;SRP=59.4903;SRR=149;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.7302;esp6500siv2_ea=0.7486;esp6500siv2_all=0.7302;esp6500siv2_ea=0.7486;1000g2015aug_all=0.711661;avsnp147=rs2278619;Kaviar_AF=0.720638;Kaviar_AC=111412;Kaviar_AN=154602;ExAC_ALL=0.7312;ExAC_AFR=0.7012;ExAC_AMR=0.4984;ExAC_EAS=0.6277;ExAC_FIN=0.7962;ExAC_NFE=0.7619;ExAC_OTH=0.7607;ExAC_SAS=0.8174;CLNALLELEID=98371;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.1941;dpsi_zscore=2.464;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7213;gnomAD_exome_AFR=0.6935;gnomAD_exome_AMR=0.5097;gnomAD_exome_ASJ=0.8022;gnomAD_exome_EAS=0.6247;gnomAD_exome_FIN=0.7988;gnomAD_exome_NFE=0.7547;gnomAD_exome_OTH=0.7411;gnomAD_exome_SAS=0.8137;gnomAD_genome_ALL=0.7260;gnomAD_genome_AFR=0.6869;gnomAD_genome_AMR=0.5371;gnomAD_genome_ASJ=0.7914;gnomAD_genome_EAS=0.6153;gnomAD_genome_FIN=0.7912;gnomAD_genome_NFE=0.7528;gnomAD_genome_OTH=0.7571;Whole_Blood=Whole_Blood::0.279133::-0.312714;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-477.684,0,-579.67:835:400:383:10188:11323 0/1:-665.897,0,-863.171:1133:563:510:13945:15981 1/1:-1611.78,-236.137,0:837:5:809:22414:123 0/1:-406.067,0,-389.012:592:263:301:8122:7405 1/1:-1583.81,-226.641,0:897:17:843:22432:441 0/1:-894.036,0,-1120:1406:698:637:17236:20475 1/1:-1610.91,-235.078,0:867:10:829:22426:294 1/1:-2123.65,-330.892,0:1151:3:1106:29526:64 0/1:-610.197,0,-619.86:902:400:446:12080:11732 0/1:-648.602,0,-647.042:983:450:485:13114:13020 0/1:-417.434,0,-627.28:766:390:333:8802:11276 1/1:-1687.21,-247.854,0:896:7:856:23521:201 1/1:-1625.43,-251.326,0:884:6:854:23073:146 0/1:-540.996,0,-520.301:810:351:415:10886:10423 0/1:-511.183,0,-453.39:712:306:372:9987:8841 1/1:-2479.14,-366.408,0:1327:13:1283:34518:286 1/1:-1428.25,-222.656,0:775:3:742:19867:67 1/1:-3824.07,-557.381,0:2008:19:1931:53031:450 1/1:-1833.92,-267.186,0:949:7:915:24983:151 1/1:-1456.27,-229.373,0:783:1:765:20103:14 0/1:-415.748,0,-564.769:713:353:324:8725:10266 1/1:-2141.96,-322.072,0:1132:5:1085:29269:92 1/1:-1108.79,-179.326,0:638:7:604:16014:118 . 1/1:-2006.59,-312.52,0:1057:1:1038:27923:14 1/1:-1539.31,-244.432,0:862:4:824:21766:107 1/1:-1779.01,-275.408,0:960:3:926:25100:77 0/1:-565.335,0,-588.225:828:383:410:11191:11027 1/1:-1356.69,-212.086,0:756:8:722:19367:212 1/1:-1400.61,-204.463,0:733:5:707:19718:131 1/1:-1475.35,-219.172,0:792:12:765:20228:211 1/1:-2354.7,-354.788,0:1269:16:1209:32915:283 . 0/1:-577.674,0,-793.72:1002:497:448:11662:14159 1/1:-1891.61,-278.509,0:1001:7:965:26874:160 1/1:-1739.36,-271.434,0:958:7:924:25045:182 1/1:-2241.69,-338.873,0:1179:6:1140:30836:109 0/1:-620.221,0,-543.339:838:358:444:12428:10454 0/1:-505.962,0,-741.079:939:474:405:10723:13807 1/1:-1333.18,-207.011,0:723:2:692:18900:28 1/1:-2256.46,-336.227,0:1163:3:1129:31006:64 1/1:-1778.45,-263.354,0:976:14:940:25050:324 0/1:-585.06,0,-878.116:994:514:432:12065:15244 0/1:-592.936,0,-681.919:966:456:467:12589:13315 1/1:-2208.05,-306.026,0:1138:13:1100:30451:376 1/1:-1882.18,-284.836,0:1018:8:986:26603:195 0/1:-579.026,0,-788.812:980:492:433:12194:14323 0/1:-409.27,0,-434.674:601:284:290:7838:8094 0/1:-478.801,0,-467.606:706:311:352:9582:8851 0/1:-792.674,0,-890.874:1186:565:564:15692:16233 1/1:-2188.29,-323.059,0:1142:6:1111:30405:170 1/1:-1557.62,-245.123,0:907:14:857:22699:286 1/1:-2297.59,-340.866,0:1206:5:1164:31801:139 1/1:-2111.33,-320.999,0:1152:8:1106:29335:196 0/1:-509.235,0,-476.107:772:336:389:10426:9701 1/1:-1382.65,-207.652,0:729:5:700:19065:77 1/1:-2066.67,-318.763,0:1132:4:1076:28752:107 1/1:-976.643,-152.05,0:542:6:522:13618:163 0/1:-524.175,0,-447.252:733:312:381:10075:8902 1/1:-1805.08,-283.928,0:993:7:959:25259:98 0/1:-397.821,0,-451.731:628:295:312:8309:8663 0/1:-731.572,0,-894.491:1192:567:556:14566:16488 1/1:-1626.03,-253.561,0:902:5:858:23027:70 1/1:-1165.84,-192.428,0:687:4:658:17025:78 1/1:-2136.19,-327.408,0:1125:2:1094:30242:28 1/1:-2007.58,-310.827,0:1078:6:1043:27947:104 1/1:-956.43,-152.543,0:541:3:516:13680:42 0/1:-577.98,0,-645.758:891:415:423:11282:12198 1/1:-1665.24,-264.531,0:918:6:891:23495:168 1/1:-1832.04,-286.808,0:1006:5:971:26345:132 1/1:-1658.75,-255.92,0:900:5:865:23105:109 1/1:-2806.61,-399.944,0:1461:19:1402:38530:422 1/1:-2042.38,-324.818,0:1119:3:1087:28557:73 1/1:-1008.43,-164.893,0:615:8:583:14863:156 0/1:-606.226,0,-626.081:921:420:451:12088:12259 1/1:-2076.6,-326.776,0:1133:6:1100:29029:106 1/1:-2066.81,-310.21,0:1109:10:1066:28887:197 0/1:-693.174,0,-894.296:1172:566:537:14844:16415 1/1:-1025.15,-158.151,0:591:8:559:14963:160 1/1:-1225.93,-182.272,0:637:1:615:16671:36 1/1:-1804.99,-280.322,0:990:6:953:25708:126 1/1:-2072.85,-317.286,0:1107:6:1072:29532:106 1/1:-2027.85,-314.095,0:1106:6:1063:28517:159 0/1:-609.155,0,-667.034:940:439:461:12612:12690 0/1:-549.555,0,-586.525:912:422:439:11680:11622 1/1:-1646.63,-260.451,0:903:5:880:23635:114 0/1:-433.852,0,-550.996:690:334:327:8983:9651 1/1:-1799.72,-279.162,0:972:5:940:25424:110 1/1:-1124.3,-173.327,0:609:5:588:16035:70 1/1:-1652.73,-252.577,0:910:9:876:23646:170 0/1:-821.663,0,-951.66:1318:615:636:17423:17630 1/1:-1699.67,-259.233,0:904:5:870:23654:105 1/1:-2272.2,-320.196,0:1180:13:1128:30979:375 0/1:-696.101,0,-781.636:1079:497:506:13820:14407 0/1:-709.565,0,-864.491:1215:581:564:15033:16313 . 0/1:-1026.2,0,-1055.92:1056:516:509:15590:16295:516,509 0/1:-1011.01,0,-1041.66:1066:522:525:16032:16106:522,525 . . 0/1:-906.234,0,-926.743:951:467:465:13943:14373:467,465 . . . . 0/1:-1008.96,0,-1027.32:1058:527:514:15815:16075:527,514 1/1:-2593.61,-302.712,0:1051:5:1030:31109:136:5,1030 1/1:-2119.98,-245.388,0:834:1:821:25400:36:1,821 . 1/1:-2279.47,-263.614,0:901:2:890:27468:57:2,890 . . . . 1/1:-2303.18,-261.435,0:888:1:878:27342:36:1,878 1/1:-2830.5,-321.084,0:1150:10:1125:34376:260:10,1125 chr17 78083791 . C T 4615.47 . AB=0.449878;ABP=11.9351;AC=25;AF=0.5;AN=46;AO=184;CIGAR=1X;DP=17240;DPB=409;DPRA=0;EPP=3.0103;EPPR=10.7323;GTI=0;LEN=1;MEANALT=3;MQM=26.5652;MQMR=31.2244;NS=1;NUMALT=1;ODDS=463.971;PAIRED=0.831522;PAIREDR=0.863415;PAO=0;PQA=0;PQR=0;PRO=0;QA=4926;QR=6306;RO=205;RPL=106;RPP=12.2627;RPPR=62.5934;RPR=78;RUN=1;SAF=88;SAP=3.76559;SAR=96;SF=0,1;SRF=101;SRP=3.10563;SRR=104;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon9:c.C1374T:p.Y458Y,GAA:NM_001079804:exon9:c.C1374T:p.Y458Y,GAA:NM_001079803:exon10:c.C1374T:p.Y458Y;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.1095;esp6500siv2_ea=0.0715;esp6500siv2_all=0.1095;esp6500siv2_ea=0.0715;1000g2015aug_all=0.0982428;avsnp147=rs1800305;Kaviar_AF=0.0713251;Kaviar_AC=11027;Kaviar_AN=154602;ExAC_ALL=0.0730;ExAC_AFR=0.1953;ExAC_AMR=0.0438;ExAC_EAS=0.0006;ExAC_FIN=0.0583;ExAC_NFE=0.0658;ExAC_OTH=0.0968;ExAC_SAS=0.0895;CLNALLELEID=98372;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4471;dpsi_zscore=1.756;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0692;gnomAD_exome_AFR=0.1954;gnomAD_exome_AMR=0.0447;gnomAD_exome_ASJ=0.0730;gnomAD_exome_EAS=0.0010;gnomAD_exome_FIN=0.0600;gnomAD_exome_NFE=0.0657;gnomAD_exome_OTH=0.0765;gnomAD_exome_SAS=0.0885;gnomAD_genome_ALL=0.0993;gnomAD_genome_AFR=0.1914;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0025;gnomAD_genome_FIN=0.0595;gnomAD_genome_NFE=0.0712;gnomAD_genome_OTH=0.0724;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-209.831,0,-342.581:409:205:184:4926:6306 . . . . . . . . . . . 0/1:-553.4,0,-710.052:979:495:430:11896:14516 . 0/1:-787.572,0,-1084.66:1472:730:661:17337:21932 . . . . . . 0/1:-399.783,0,-567.975:759:390:334:8870:11495 . . . . . . . . . 0/1:-406.352,0,-531.544:754:387:336:8945:11324 . . 0/1:-356.317,0,-405.112:632:285:314:7991:8703 . . . . . . . 0/1:-428.722,0,-479.057:733:347:350:9282:10197 . . . . . . . . . . . 0/1:-182.294,0,-339.902:417:225:168:4430:6676 . . . 0/1:-469.885,0,-648.789:855:431:384:10088:13213 . 0/1:-209.272,0,-391.552:512:279:209:5631:8399 0/1:-380.475,0,-608.091:803:413:351:9141:12381 . . . . 1/1:-1079.21,-172.025,0:703:20:632:16419:483 . 0/1:-587.836,0,-871.569:1084:571:464:12508:17274 . . . . . 0/1:-388.231,0,-650.102:835:436:357:9260:12874 0/1:-219.452,0,-283.13:440:225:196:5078:6521 . 0/1:-374.841,0,-459.775:707:347:322:8487:10176 . 0/1:-381.608,0,-680.058:805:433:337:8921:13262 . . 1/1:-997.312,-151.378,0:667:23:591:15530:550 . . 0/1:-214.85,0,-310.156:427:225:188:4858:6677 . 0/1:-487.443,0,-847.205:1009:542:426:11393:15868 . . . . . . . . . . . . 0/1:-654.763,0,-854.449:835:439:375:11042:13795:439,375 . . . . . . 0/1:-618.497,0,-710.057:738:370:349:10202:11551:370,349 0/1:-448.115,0,-719.107:665:369:283:8112:11330:369,283 . . . . chr17 78083834 . G A 5176.65 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=346;CIGAR=1X;DP=442;DPB=442;DPRA=0;EPP=7.25283;EPPR=26.1727;GTI=0;LEN=1;MEANALT=3;MQM=25.9682;MQMR=19.5;NS=1;NUMALT=1;ODDS=381.257;PAIRED=0.901734;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=8576;QR=510;RO=24;RPL=294;RPP=370.554;RPPR=39.2015;RPR=52;RUN=1;SAF=134;SAP=41.1931;SAR=212;SF=0;SRF=18;SRP=16.0391;SRR=6;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon9:c.G1417A:p.G473S,GAA:NM_001079804:exon9:c.G1417A:p.G473S,GAA:NM_001079803:exon10:c.G1417A:p.G473S;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs201409613;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=2.542e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.102e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=468549;CLNDN=Glycogen_storage_disease,_type_II;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.954;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.91;MutationAssessor_pred=M;FATHMM_score=-3.53;FATHMM_pred=D;PROVEAN_score=-4.77;PROVEAN_pred=D;VEST3_score=0.377;CADD_raw=5.282;CADD_phred=25.7;DANN_score=0.998;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=0.986;MetaSVM_pred=D;MetaLR_score=0.906;MetaLR_pred=D;integrated_fitCons_score=0.718;integrated_confidence_value=0;GERP++_RS=4.45;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.982;phastCons20way_mammalian=0.386;SiPhy_29way_logOdds=14.082;GDI_full_10282015=.;dpsi_max_tissue=-2.0448;dpsi_zscore=-1.916;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.634e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.803e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.806e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . 1/1:-556.371,-79.632,0:442:24:346:8576:510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78084505 . CTG CTC 30402.50 . AB=0;ABP=0;AC=14;AF=1;AN=14;AO=880;CIGAR=2M1X;DP=8713;DPB=930;DPRA=0;EPP=3.16823;EPPR=5.18177;GTI=0;LEN=1;MEANALT=10;MQM=38.7045;MQMR=11.75;NS=1;NUMALT=1;ODDS=1200.57;PAIRED=0.954545;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=26910;QR=93;RO=4;RPL=330;RPP=122.441;RPPR=3.0103;RPR=550;RUN=1;SAF=580;SAP=196.469;SAR=300;SF=1;SRF=3;SRP=5.18177;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2267.21,-262.062,0:930:4:880:26910:93:4,880 . . 1/1:-3223.51,-357.115,0:1295:7:1234:38352:194:7,1234 . 1/1:-3250.19,-369.154,0:1292:3:1244:38660:77:3,1244 . . . 1/1:-3104.52,-345.229,0:1246:8:1196:37026:209:8,1196 1/1:-3205.47,-363.424,0:1267:4:1223:38019:90:4,1223 . . . 1/1:-2897.35,-319.371,0:1176:9:1116:34805:233:9,1116 . 1/1:-3704.31,-395.964,0:1507:17:1416:44306:458:17,1416 chr17 78084506 . TG TC 35730.45 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=1357;CIGAR=1M1X;DP=2869;DPB=1404;DPRA=0;EPP=3.85681;EPPR=3.32051;GTI=0;LEN=1;MEANALT=6;MQM=38.9492;MQMR=26.7143;NS=1;NUMALT=1;ODDS=1829.65;PAIRED=0.950626;PAIREDR=0.714286;PAO=0;PQA=0;PQR=0;PRO=0;QA=42493;QR=162;RO=7;RPL=429;RPP=401.462;RPPR=5.80219;RPR=928;RUN=1;SAF=873;SAP=245.154;SAR=484;SF=1;SRF=5;SRP=5.80219;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3580.09,-398.579,0:1404:7:1357:42493:162:7,1357 . . . 1/1:-3710.49,-412.518,0:1465:7:1408:44097:177:7,1408 . . . . . chr17 78084507 . G C 16161.42 . AB=0.53455;ABP=10.9629;AC=170;AF=0.5;AN=208;AO=410;CIGAR=1X;DP=107467;DPB=767;DPRA=0;EPP=14.2172;EPPR=40.3282;GTI=0;LEN=1;MEANALT=3;MQM=27.4683;MQMR=29.4899;NS=1;NUMALT=1;ODDS=1087.72;PAIRED=0.904878;PAIREDR=0.846377;PAO=0;PQA=0;PQR=0;PRO=0;QA=11113;QR=10778;RO=345;RPL=145;RPP=79.2766;RPPR=195.768;RPR=265;RUN=1;SAF=279;SAP=119.02;SAR=131;SF=0,1;SRF=232;SRP=92.1414;SRR=113;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6703;esp6500siv2_ea=0.7379;esp6500siv2_all=0.6703;esp6500siv2_ea=0.7379;1000g2015aug_all=0.603035;avsnp147=rs2304844;Kaviar_AF=0.661958;Kaviar_AC=102340;Kaviar_AN=154602;ExAC_ALL=0.6760;ExAC_AFR=0.5371;ExAC_AMR=0.4598;ExAC_EAS=0.5284;ExAC_FIN=0.7638;ExAC_NFE=0.7454;ExAC_OTH=0.7221;ExAC_SAS=0.6753;CLNALLELEID=98373;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0179;dpsi_zscore=-0.091;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6707;gnomAD_exome_AFR=0.5300;gnomAD_exome_AMR=0.4729;gnomAD_exome_ASJ=0.7790;gnomAD_exome_EAS=0.5309;gnomAD_exome_FIN=0.7662;gnomAD_exome_NFE=0.7399;gnomAD_exome_OTH=0.7066;gnomAD_exome_SAS=0.6748;gnomAD_genome_ALL=0.6658;gnomAD_genome_AFR=0.5306;gnomAD_genome_AMR=0.5060;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5385;gnomAD_genome_FIN=0.7599;gnomAD_genome_NFE=0.7392;gnomAD_genome_OTH=0.7251;Whole_Blood=Whole_Blood::0.306233::-0.329714;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-527.153,0,-513.505:767:345:410:11113:10778 0/1:-820.099,0,-925.417:1196:577:613:16894:17947 1/1:-1802.32,-251.355,0:929:15:901:25338:360 0/1:-402.226,0,-516.1:597:305:289:8022:9425 1/1:-1736.22,-254.546,0:1002:28:962:26107:638 0/1:-896.731,0,-1118:1386:695:659:18210:21332 1/1:-1612.46,-236.565,0:836:11:812:23232:183 1/1:-2352.58,-353.315,0:1245:15:1212:33353:235 0/1:-596.78,0,-938.956:989:542:437:12180:16788 0/1:-790.525,0,-882.009:1101:533:557:15673:16497 0/1:-609.975,0,-777.607:953:484:451:12528:15088 1/1:-1841.89,-267.204,0:954:12:928:25854:270 1/1:-1741.8,-264.052,0:917:13:892:24609:261 0/1:-416.798,0,-605.665:763:390:364:9609:12006 0/1:-532.442,0,-636.564:774:383:386:10975:11579 1/1:-2899.44,-430.126,0:1501:14:1470:41149:265 1/1:-1309.95,-199.393,0:737:16:709:19687:277 1/1:-4182.7,-602.716,0:2162:28:2100:59107:590 1/1:-1765.28,-256.525,0:924:13:898:25436:233 1/1:-1380.96,-209.775,0:744:11:725:20088:206 0/1:-503.889,0,-637.865:782:384:379:10682:12018 1/1:-2092.15,-303.002,0:1076:14:1048:29720:287 1/1:-1061.89,-163.964,0:571:5:556:15576:83 . 1/1:-2397.98,-349.047,0:1221:13:1193:33604:244 1/1:-1254.29,-209.183,0:730:9:713:19103:152 1/1:-1878.53,-264.255,0:944:15:915:25923:243 0/1:-641.406,0,-773.071:939:471:455:12537:14783 1/1:-1457.63,-228.261,0:826:16:796:21729:268 1/1:-1579.82,-215.079,0:776:12:759:21475:255 1/1:-1660.92,-240.49,0:881:14:852:24069:278 1/1:-2058.45,-293.808,0:1048:12:1023:28890:291 . 0/1:-815.589,0,-919.302:1212:582:608:16573:18006 1/1:-1878.69,-266.309,0:946:19:921:26306:375 1/1:-1992.84,-302.971,0:1069:14:1040:28721:261 1/1:-2483.46,-378.122,0:1339:18:1305:35897:272 0/1:-539.297,0,-622.855:774:377:389:11171:11566 0/1:-648.219,0,-757.151:958:484:466:12798:14810 1/1:-1427.41,-206.95,0:731:7:706:19883:134 1/1:-2441.99,-349.202,0:1216:13:1194:33969:239 1/1:-2019.92,-310.488,0:1103:13:1073:29162:214 0/1:-690.992,0,-950.528:1041:551:481:13551:17143 0/1:-637.981,0,-846.629:988:495:476:13295:15292 1/1:-2147.85,-317.945,0:1113:13:1087:30698:256 1/1:-1917.98,-285.271,0:1005:11:977:26999:167 0/1:-705.732,0,-836.915:1024:504:496:13933:15294 0/1:-362.557,0,-507.772:580:316:260:7615:9741 0/1:-489.222,0,-625.515:755:377:368:10259:11739 0/1:-908.449,0,-957.518:1228:585:631:17840:18197 1/1:-2292.33,-347.372,0:1224:15:1199:33101:319 1/1:-1634.68,-261.981,0:937:18:906:25108:328 1/1:-2227.58,-315.398,0:1129:21:1097:31008:376 1/1:-2563.32,-377.14,0:1345:20:1295:36085:331 0/1:-455.959,0,-489.229:700:330:363:9698:10233 1/1:-1725.31,-253.27,0:872:5:854:24248:83 1/1:-2406.31,-338.894,0:1226:19:1192:33677:403 1/1:-933.653,-148.842,0:527:5:513:14110:92 0/1:-560.013,0,-759.302:846:432:402:11314:13814 1/1:-2384.65,-356.45,0:1264:17:1223:33807:325 0/1:-398.038,0,-500.287:647:317:320:8716:9642 0/1:-839.373,0,-1222.82:1365:709:640:17974:22124 1/1:-1984.03,-286.555,0:1025:11:994:28043:194 1/1:-1110.4,-175.923,0:645:9:620:16793:192 1/1:-2324.99,-342.481,0:1202:15:1166:32869:228 1/1:-2162.1,-311.899,0:1103:14:1081:29990:238 1/1:-1066.91,-161.956,0:588:8:564:15871:182 0/1:-558.298,0,-766.57:902:473:417:11568:14894 1/1:-1836.65,-265.678,0:986:21:947:26284:422 1/1:-1831.62,-268.727,0:986:15:958:26317:339 0/1:-804.285,0,-905.684:1182:577:597:16224:17465 1/1:-2743.59,-392.093,0:1371:13:1336:37965:225 1/1:-2230.88,-342.332,0:1240:20:1200:32548:435 1/1:-945.41,-163.696,0:630:18:600:15377:321 0/1:-570.878,0,-769.444:855:440:404:11391:13645 1/1:-2273.41,-335.742,0:1230:25:1185:32727:496 1/1:-2268.52,-331.837,0:1227:19:1190:32607:455 0/1:-763.613,0,-994.06:1162:599:553:15673:18371 1/1:-1281.04,-184.921,0:655:7:641:17997:133 1/1:-1165.95,-152.305,0:608:22:585:16870:480 1/1:-2037.08,-303.712,0:1114:21:1076:29937:396 1/1:-2293.65,-339.366,0:1213:20:1186:32812:397 1/1:-2431.24,-364.832,0:1283:12:1253:34463:203 0/1:-611.739,0,-752.248:960:487:467:12774:14930 0/1:-547.199,0,-675.156:884:439:434:11647:13988 1/1:-1809.63,-261.422,0:946:12:918:25645:259 0/1:-561.596,0,-479.999:682:297:374:10567:9145 1/1:-2011.95,-309.431,0:1090:13:1056:29013:202 1/1:-1199.42,-175.59,0:614:8:601:16758:130 1/1:-1654.89,-244.652,0:894:21:863:23282:442 0/1:-976.216,0,-1113.81:1367:663:691:19313:20806 1/1:-1928.71,-294.692,0:1018:10:1000:27671:165 1/1:-2580.09,-369.997,0:1318:16:1280:36115:303 0/1:-881.356,0,-944.54:1234:578:646:17563:17968 0/1:-712.586,0,-956.59:1136:582:544:15121:17895 . 0/1:-1559.95,0,-1584.94:1575:766:779:24099:24044:766,779 0/1:-1297.47,0,-1405.36:1348:686:645:20022:21384:686,645 1/1:-3716.64,-410.976,0:1444:9:1415:43923:219:9,1415 . 0/1:-1216.54,0,-1303.56:1269:635:617:19119:20081:635,617 1/1:-3570.89,-399.834,0:1418:11:1383:42776:269:11,1383 . 1/1:-3596.64,-403.122,0:1405:7:1378:42715:182:7,1378 . 0/1:-1317.86,0,-1395.45:1353:675:661:20332:21225:675,661 . 1/1:-2547.84,-287.178,0:993:6:975:30174:102:6,975 . . . 1/1:-3474.6,-392.92,0:1390:9:1354:41256:204:9,1354 1/1:-3444.45,-396.662,0:1347:4:1325:40853:56:4,1325 . 1/1:-2905.61,-317.376,0:1140:13:1117:34695:298:13,1117 . chr17 78084592 . A G 11137.90 . AB=0.475624;ABP=12.1147;AC=1;AF=0.5;AN=2;AO=839;CIGAR=1X;DP=1764;DPB=1764;DPRA=0;EPP=9.74212;EPPR=3.0732;GTI=0;LEN=1;MEANALT=3;MQM=28.1406;MQMR=29.9351;NS=1;NUMALT=1;ODDS=2564.61;PAIRED=0.828367;PAIREDR=0.838934;PAO=0;PQA=0;PQR=0;PRO=0;QA=23400;QR=24789;RO=863;RPL=347;RPP=57.4265;RPPR=74.8752;RPR=492;RUN=1;SAF=429;SAP=3.94463;SAR=410;SF=0;SRF=396;SRP=15.6944;SRR=467;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon10:c.A1504G:p.M502V,GAA:NM_001079804:exon10:c.A1504G:p.M502V,GAA:NM_001079803:exon11:c.A1504G:p.M502V;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs376067362;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=6.617e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=433585;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.51;SIFT_pred=T;Polyphen2_HDIV_score=0.156;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.14;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.804;MutationTaster_pred=N;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=-2.94;FATHMM_pred=D;PROVEAN_score=-2.36;PROVEAN_pred=N;VEST3_score=0.591;CADD_raw=1.170;CADD_phred=11.59;DANN_score=0.952;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_pred=D;MetaSVM_score=0.035;MetaSVM_pred=D;MetaLR_score=0.692;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.37;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.194;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.021;GDI_full_10282015=.;dpsi_max_tissue=0.0579;dpsi_zscore=0.332;hgmdCODING=HGMD::Glycogen_storage_disease_2,_late-onset#24158270;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM140684#"Glycogen_storage_disease_2_late-onset";gnomAD_exome_ALL=4.875e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.854e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.701e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1128.49,0,-1236.62:1764:863:839:23400:24789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78084769 . G A 10701.37 . AB=0;ABP=0;AC=61;AF=1;AN=104;AO=1199;CIGAR=1X;DP=68733;DPB=1320;DPRA=0;EPP=48.7959;EPPR=10.0459;GTI=0;LEN=1;MEANALT=3;MQM=28.3128;MQMR=28.8;NS=1;NUMALT=1;ODDS=1492.84;PAIRED=0.773978;PAIREDR=0.88;PAO=0;PQA=0;PQR=0;PRO=0;QA=31986;QR=579;RO=25;RPL=776;RPP=228.686;RPPR=5.18177;RPR=423;RUN=1;SAF=618;SAP=5.48965;SAR=581;SF=0,1;SRF=11;SRP=3.79203;SRR=14;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon11:c.G1581A:p.R527R,GAA:NM_001079804:exon11:c.G1581A:p.R527R,GAA:NM_001079803:exon12:c.G1581A:p.R527R;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.2094;esp6500siv2_ea=0.2816;esp6500siv2_all=0.2094;esp6500siv2_ea=0.2816;1000g2015aug_all=0.159545;avsnp147=rs1042396;Kaviar_AF=0.232131;Kaviar_AC=35888;Kaviar_AN=154602;ExAC_ALL=0.2309;ExAC_AFR=0.0627;ExAC_AMR=0.2277;ExAC_EAS=0.1214;ExAC_FIN=0.2367;ExAC_NFE=0.2751;ExAC_OTH=0.2350;ExAC_SAS=0.2156;CLNALLELEID=98375;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.1984;dpsi_zscore=2.029;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2327;gnomAD_exome_AFR=0.0582;gnomAD_exome_AMR=0.2319;gnomAD_exome_ASJ=0.2516;gnomAD_exome_EAS=0.1196;gnomAD_exome_FIN=0.2365;gnomAD_exome_NFE=0.2765;gnomAD_exome_OTH=0.2443;gnomAD_exome_SAS=0.2138;gnomAD_genome_ALL=0.1972;gnomAD_genome_AFR=0.0630;gnomAD_genome_AMR=0.2392;gnomAD_genome_ASJ=0.2367;gnomAD_genome_EAS=0.1174;gnomAD_genome_FIN=0.2232;gnomAD_genome_NFE=0.2704;gnomAD_genome_OTH=0.2669;Whole_Blood=Whole_Blood::0.233696::-0.380891;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 1/1:-2158,-326.39,0:1320:25:1199:31986:579 . . 0/1:-822.361,0,-1201.61:1567:810:665:17525:22813 . 0/1:-774.907,0,-858.531:1304:619:599:15752:17060 0/1:-678.191,0,-767.568:1150:548:527:14328:15233 . 1/1:-1939.94,-286.811,0:1146:13:1039:27115:370 . 0/1:-412.431,0,-709.993:880:468:356:9433:13046 0/1:-1122.18,0,-1477.46:1931:976:843:22584:27579 . 0/1:-1760.55,0,-2046.78:2876:1407:1303:35278:40129 . . 0/1:-626.508,0,-734.108:1024:498:459:12439:13695 0/1:-1029.37,0,-1110.43:1558:744:736:19910:21168 . . . 0/1:-487.452,0,-518.68:888:430:408:10573:11392 . . . 0/1:-619.131,0,-782.365:1088:533:487:12966:14937 . 0/1:-894.559,0,-1061.91:1541:746:687:18287:20618 . . 0/1:-811.76,0,-920.958:1343:629:630:17018:17936 1/1:-2521.11,-376.458,0:1437:14:1321:35521:404 . . 0/1:-724.077,0,-899.515:1240:608:555:14672:16811 0/1:-596.342,0,-562.96:950:429:459:11744:11958 . . . . 0/1:-933.294,0,-1088.69:1527:727:712:19238:20866 0/1:-752.399,0,-1001.34:1337:663:579:15314:18349 . . . . . 0/1:-626.943,0,-561.677:1001:431:499:13017:12099 . . 0/1:-443.901,0,-548.222:860:393:393:9797:10775 1/1:-1905.26,-287.845,0:1092:11:988:26510:243 . . . 0/1:-839.121,0,-1112.52:1489:741:654:17511:21002 . . 0/1:-585.059,0,-920.293:1172:613:483:12872:16868 . . 1/1:-2375.18,-332.704,0:1347:19:1221:33181:509 0/1:-342.824,0,-392.857:611:281:282:7517:7811 . 0/1:-640.328,0,-876.016:1250:612:536:14127:16958 . . . 0/1:-771.398,0,-1110.83:1503:767:642:16758:21210 0/1:-408.192,0,-378.132:754:337:372:9634:9088 . . 0/1:-924.717,0,-978.615:1531:710:718:18422:20022 . . 0/1:-484.016,0,-591.067:847:391:398:10376:11240 . 1/1:-2711.05,-406.083,0:1558:18:1428:38356:453 0/1:-772.18,0,-1236.92:1593:835:655:17241:23349 . . . . 0/1:-861.893,0,-989.64:1406:655:646:17262:18562 0/1:-481.601,0,-533.294:808:379:381:9686:10547 0/1:-646.83,0,-694.658:1068:504:504:13148:14136 . . 0/1:-879.509,0,-1181.16:1547:784:662:17927:22132 0/1:-834.901,0,-1146.91:1520:758:678:17645:21085 0/1:-803.935,0,-1215.56:1520:772:645:17388:21792 . 0/1:-1412.74,0,-1425.31:1566:768:755:22482:22652:768,755 . 0/1:-1416.25,0,-1656.11:1700:863:781:23093:25801:863,781 0/1:-873.959,0,-831.574:961:448:471:14078:13392:448,471 0/1:-1030.64,0,-1258.78:1271:644:583:16979:19178:644,583 . 1/1:-3511.17,-393.623,0:1515:20:1447:42903:568:20,1447 . 0/1:-1188.96,0,-1380.58:1426:743:635:19225:21663:743,635 0/1:-1386.55,0,-1388.9:1575:762:755:22408:22433:762,755 0/1:-1307.72,0,-1501:1595:806:732:21721:23915:806,732 0/1:-1013.82,0,-1077.29:1166:569:553:16436:17258:569,553 0/1:-1258.03,0,-1177.65:1393:654:692:20313:19341:654,692 1/1:-3202.61,-388.822,0:1376:7:1316:39147:142:7,1316 . . . 0/1:-1076.67,0,-1298.69:1340:687:599:17773:20441:687,599 1/1:-3006.09,-336.216,0:1265:12:1212:36794:379:12,1212 . chr17 78084781 . C T 8073.72 . AB=0.451827;ABP=33.346;AC=1;AF=0.5;AN=2;AO=680;CIGAR=1X;DP=1505;DPB=1505;DPRA=0;EPP=40.2574;EPPR=69.8088;GTI=0;LEN=1;MEANALT=3;MQM=29.3426;MQMR=31.4853;NS=1;NUMALT=1;ODDS=1859.04;PAIRED=0.789706;PAIREDR=0.791293;PAO=0;PQA=0;PQR=0;PRO=0;QA=18075;QR=23908;RO=781;RPL=484;RPP=267.879;RPPR=271.931;RPR=196;RUN=1;SAF=376;SAP=19.5646;SAR=304;SF=0;SRF=425;SRP=16.2477;SRR=356;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon11:c.C1593T:p.D531D,GAA:NM_001079804:exon11:c.C1593T:p.D531D,GAA:NM_001079803:exon12:c.C1593T:p.D531D;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs138732016;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=8.28e-05;ExAC_AFR=0;ExAC_AMR=8.67e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=489991;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7181;dpsi_zscore=-1.804;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.68e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-849.802,0,-1303.55:1505:781:680:18075:23908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78085911 . G A 6089.17 . AB=0.40814;ABP=66.0436;AC=7;AF=0.5;AN=14;AO=351;CIGAR=1X;DP=6598;DPB=860;DPRA=0;EPP=84.8272;EPPR=31.9062;GTI=0;LEN=1;MEANALT=3;MQM=32.8319;MQMR=33.4989;NS=1;NUMALT=1;ODDS=1075.05;PAIRED=0.883191;PAIREDR=0.889126;PAO=0;PQA=0;PQR=0;PRO=0;QA=9602;QR=14476;RO=469;RPL=208;RPP=29.1484;RPPR=144.804;RPR=143;RUN=1;SAF=141;SAP=32.4644;SAR=210;SF=0,1;SRF=204;SRP=20.2385;SRR=265;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0701;esp6500siv2_ea=0.0628;esp6500siv2_all=0.0701;esp6500siv2_ea=0.0628;1000g2015aug_all=0.063099;avsnp147=rs2304840;Kaviar_AF=0.0576707;Kaviar_AC=8916;Kaviar_AN=154602;ExAC_ALL=0.0581;ExAC_AFR=0.0802;ExAC_AMR=0.0240;ExAC_EAS=0.0335;ExAC_FIN=0.0504;ExAC_NFE=0.0624;ExAC_OTH=0.0546;ExAC_SAS=0.0671;CLNALLELEID=98377;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3601;dpsi_zscore=0.972;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0562;gnomAD_exome_AFR=0.0792;gnomAD_exome_AMR=0.0237;gnomAD_exome_ASJ=0.0372;gnomAD_exome_EAS=0.0372;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0656;gnomAD_exome_OTH=0.0536;gnomAD_exome_SAS=0.0652;gnomAD_genome_ALL=0.0647;gnomAD_genome_AFR=0.0750;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0433;gnomAD_genome_EAS=0.0402;gnomAD_genome_FIN=0.0568;gnomAD_genome_NFE=0.0661;gnomAD_genome_OTH=0.0625;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:-492.14,0,-849.483:860:469:351:9602:14476 . . . . . . . . . . 0/1:-579.903,0,-710.616:851:417:399:10857:12950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-385.13,0,-684.346:712:386:295:8057:12067 . . . . . . . . . . . 0/1:-668.665,0,-1182.99:1271:675:529:14014:21058 . . 0/1:-452.881,0,-461.619:633:285:309:8484:8958 . . . . . . . . . . . . 0/1:-598.873,0,-963.921:1013:522:437:12321:16450 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1129.07,0,-1463.67:1258:648:584:17592:21322:648,584 chr17 78086359 . T C 2074.89 . AB=0.549342;ABP=9.439;AC=1;AF=0.5;AN=2;AO=167;CIGAR=1X;DP=304;DPB=304;DPRA=0;EPP=3.0233;EPPR=35.1307;GTI=0;LEN=1;MEANALT=3;MQM=27.8024;MQMR=28.336;NS=1;NUMALT=1;ODDS=313.183;PAIRED=0.868263;PAIREDR=0.88;PAO=0;PQA=0;PQR=0;PRO=0;QA=4638;QR=3795;RO=125;RPL=35;RPP=125.354;RPPR=106.008;RPR=132;RUN=1;SAF=101;SAP=18.9388;SAR=66;SF=0;SRF=100;SRP=100.727;SRR=25;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000599042;avsnp147=rs201399518;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0004;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=378828;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0893;dpsi_zscore=0.450;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-230.306,0,-168.691:304:125:167:4638:3795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78086452 . C T 1782.94 . AB=0.40257;ABP=41.5156;AC=1;AF=0.5;AN=2;AO=188;CIGAR=1X;DP=467;DPB=467;DPRA=0;EPP=16.3625;EPPR=52.3899;GTI=0;LEN=1;MEANALT=3;MQM=27.883;MQMR=31.8504;NS=1;NUMALT=1;ODDS=410.538;PAIRED=0.845745;PAIREDR=0.830709;PAO=0;PQA=0;PQR=0;PRO=0;QA=4745;QR=7392;RO=254;RPL=128;RPP=56.4193;RPPR=47.3289;RPR=60;RUN=1;SAF=111;SAP=16.3625;SAR=77;SF=0;SRF=138;SRP=7.14807;SRR=116;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon13:c.C1830T:p.A610A,GAA:NM_001079804:exon13:c.C1830T:p.A610A,GAA:NM_001079803:exon14:c.C1830T:p.A610A;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000599042;avsnp147=rs61736896;Kaviar_AF=0.0011902;Kaviar_AC=184;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0031;ExAC_NFE=0.0022;ExAC_OTH=0.0039;ExAC_SAS=0.0006;CLNALLELEID=256525;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2392;dpsi_zscore=-0.757;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0032;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0027;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0045;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-195.67,0,-417.233:467:254:188:4745:7392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78086531 . G A 1932.53 . AB=0.419463;ABP=19.7991;AC=7;AF=0.5;AN=14;AO=125;CIGAR=1X;DP=2051;DPB=298;DPRA=0;EPP=35.1307;EPPR=48.8218;GTI=0;LEN=1;MEANALT=3;MQM=30.024;MQMR=28.8;NS=1;NUMALT=1;ODDS=335.752;PAIRED=0.976;PAIREDR=0.963636;PAO=0;PQA=0;PQR=0;PRO=0;QA=3380;QR=5383;RO=165;RPL=72;RPP=9.28151;RPPR=3.65516;RPR=53;RUN=1;SAF=52;SAP=10.6713;SAR=73;SF=0,1;SRF=88;SRP=4.60271;SRR=77;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0271;esp6500siv2_ea=0.0313;esp6500siv2_all=0.0271;esp6500siv2_ea=0.0313;1000g2015aug_all=0.0778754;avsnp147=rs2304837;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;ExAC_ALL=0.0728;ExAC_AFR=0.0267;ExAC_AMR=0.0319;ExAC_EAS=0.2801;ExAC_FIN=0.0914;ExAC_NFE=0.0543;ExAC_OTH=0.072;ExAC_SAS=0.0725;CLNALLELEID=256526;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1377;dpsi_zscore=-0.552;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0576;gnomAD_exome_AFR=0.0203;gnomAD_exome_AMR=0.0265;gnomAD_exome_ASJ=0.0414;gnomAD_exome_EAS=0.2411;gnomAD_exome_FIN=0.0660;gnomAD_exome_NFE=0.0403;gnomAD_exome_OTH=0.0574;gnomAD_exome_SAS=0.0642;gnomAD_genome_ALL=0.0530;gnomAD_genome_AFR=0.0203;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.2426;gnomAD_genome_FIN=0.0767;gnomAD_genome_NFE=0.0469;gnomAD_genome_OTH=0.0676;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-158.424,0,-275.115:298:165:125:3380:5383 . . . . . . . . . 0/1:-155.977,0,-267.861:255:141:100:3114:4485 . . . . . . 0/1:-190.947,0,-239.081:249:128:115:3453:4169 . . . . . 0/1:-169.77,0,-372.592:349:203:132:3860:6525 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-223.01,0,-256.571:304:148:145:4192:4736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-187.512,0,-273.955:296:154:129:3716:4883 . . . . . . . . . 0/1:-327.064,0,-280.932:300:136:157:5026:4522:136,157 . . . . . . . . . . . . . . chr17 78086718 . C T 1891.28 . AB=0.425926;ABP=23.5991;AC=2;AF=0.5;AN=4;AO=184;CIGAR=1X;DP=844;DPB=432;DPRA=0;EPP=3.43515;EPPR=12.5128;GTI=0;LEN=1;MEANALT=3;MQM=31.6576;MQMR=29.7607;NS=1;NUMALT=1;ODDS=501.357;PAIRED=0.847826;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=4760;QR=7219;RO=234;RPL=129;RPP=67.6352;RPPR=28.1029;RPR=55;RUN=1;SAF=72;SAP=21.8927;SAR=112;SF=0;SRF=96;SRP=19.3799;SRR=138;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon14:c.C1932T:p.A644A,GAA:NM_001079804:exon14:c.C1932T:p.A644A,GAA:NM_001079803:exon15:c.C1932T:p.A644A;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs746194098;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=5.81e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=375742;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.0926;dpsi_zscore=-1.930;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.203e-05;gnomAD_exome_AFR=6.959e-05;gnomAD_exome_AMR=3.024e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.431e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.471e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-234.684,0,-373.264:432:234:184:4760:7219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-175.404,0,-408.044:412:238:152:4030:7281 . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78086846 . AT GT 2280.19 . AB=0.52381;ABP=3.63072;AC=190;AF=0.5;AN=226;AO=66;CIGAR=1X;DP=23072;DPB=126;DPRA=0;EPP=18.9344;EPPR=5.5839;GTI=0;LEN=1;MEANALT=3;MQM=20;MQMR=18.1667;NS=1;NUMALT=1;ODDS=59.8187;PAIRED=0.984848;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1825;QR=1472;RO=54;RPL=34;RPP=3.1419;RPPR=7.03155;RPR=32;RUN=1;SAF=42;SAP=13.6703;SAR=24;SF=0,1;SRF=21;SRP=8.80089;SRR=33;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.7334;esp6500siv2_ea=0.7513;esp6500siv2_all=0.7334;esp6500siv2_ea=0.7513;1000g2015aug_all=0.715056;avsnp147=rs2304836;Kaviar_AF=0.67818;Kaviar_AC=104848;Kaviar_AN=154602;ExAC_ALL=0.7441;ExAC_AFR=0.7104;ExAC_AMR=0.5379;ExAC_EAS=0.6412;ExAC_FIN=0.7884;ExAC_NFE=0.7704;ExAC_OTH=0.7727;ExAC_SAS=0.8230;CLNALLELEID=98379;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1245;dpsi_zscore=-0.518;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS152218#"Glycogen_storage_disease_2";gnomAD_exome_ALL=0.7196;gnomAD_exome_AFR=0.6923;gnomAD_exome_AMR=0.5136;gnomAD_exome_ASJ=0.7971;gnomAD_exome_EAS=0.6246;gnomAD_exome_FIN=0.7935;gnomAD_exome_NFE=0.7547;gnomAD_exome_OTH=0.7412;gnomAD_exome_SAS=0.8145;gnomAD_genome_ALL=0.7271;gnomAD_genome_AFR=0.6921;gnomAD_genome_AMR=0.5394;gnomAD_genome_ASJ=0.7881;gnomAD_genome_EAS=0.6138;gnomAD_genome_FIN=0.7903;gnomAD_genome_NFE=0.7524;gnomAD_genome_OTH=0.7551;Whole_Blood=Whole_Blood::0.28125::-0.320103;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-32.7998:126:54:66:1825:1472 0/1:.,.,-67.6039:221:106:106:2957:2867 1/1:.,.,0:166:1:164:4328:14 0/1:.,.,-49.1203:115:53:56:1496:1479 1/1:.,.,0:160:2:155:4133:28 0/1:.,.,-103.262:218:103:103:2887:2949 1/1:.,.,0:148:2:145:4088:48 1/1:.,.,0:233:2:224:6464:68 0/1:.,.,-106.871:199:105:86:2397:2916 0/1:.,.,-83.0575:213:105:91:2334:2904 0/1:.,.,-56.8332:191:83:101:2902:2161 1/1:.,.,0:154:2:149:4342:72 1/1:.,.,0:156:1:153:3985:36 0/1:.,.,-65.2422:152:80:66:1703:1964 0/1:.,.,-40.2732:143:63:71:1891:1740 1/1:.,.,0:229:0:225:6295:0 1/1:.,.,0:108:3:104:2962:42 1/1:.,.,0:430:8:410:11230:178 1/1:.,.,0:200:1:194:5462:21 1/1:.,.,0:95:3:91:2659:64 0/1:.,.,-65.9337:173:85:76:2184:2398 1/1:.,.,0:169:2:161:4447:28 1/1:.,.,0:77:0:75:2167:0 . 1/1:.,.,0:247:1:238:6483:32 1/1:.,.,0:131:0:131:3638:0 1/1:.,.,0:211:4:203:5646:100 0/1:.,.,-55.0102:184:78:96:2479:2051 1/1:.,.,0:136:1:132:3333:14 1/1:.,.,0:154:3:143:3947:49 1/1:.,.,0:133:1:129:3682:14 1/1:.,.,0:152:1:149:4118:14 . 0/1:.,.,-147.911:375:173:177:4692:4722 1/1:.,.,0:130:2:124:3161:50 1/1:.,.,0:219:2:215:5974:68 1/1:.,.,0:359:1:348:9779:27 0/1:.,.,-36.9581:120:53:62:1775:1371 0/1:.,.,-79.7498:197:98:84:2191:2583 1/1:.,.,0:172:2:167:4744:28 1/1:.,.,0:188:3:180:5052:55 1/1:.,.,0:211:0:207:5648:0 0/1:.,.,-95.4984:215:111:97:2781:2991 0/1:.,.,-83.0853:172:88:73:1978:2395 1/1:.,.,0:203:0:200:5475:0 1/1:.,.,0:167:0:156:4269:0 0/1:.,.,-88.1942:191:95:82:2362:2529 0/1:.,.,-50.6122:131:59:66:1665:1703 1/1:.,.,0:141:2:137:3851:57 0/1:.,.,-60.639:182:78:96:2601:2196 1/1:.,.,0:223:0:220:6067:0 1/1:.,.,0:148:1:144:3863:36 1/1:.,.,0:164:0:163:4621:0 1/1:.,.,0:297:0:291:8133:0 0/1:.,.,-52.1124:162:69:80:2289:1857 1/1:.,.,0:173:1:167:4432:14 1/1:.,.,0:214:3:209:5482:49 1/1:.,.,0:95:0:90:2345:0 0/1:.,.,-65.0399:172:79:87:2501:2093 1/1:.,.,0:279:1:270:7335:14 0/1:.,.,-35.7428:123:51:63:1610:1295 0/1:.,.,-126.304:272:141:117:3166:3787 1/1:.,.,0:216:0:214:6063:0 1/1:.,.,0:118:2:115:3093:41 1/1:.,.,0:243:1:237:6659:36 1/1:.,.,0:234:2:227:6352:28 1/1:.,.,0:72:1:69:1860:36 0/1:.,.,-96.2946:211:107:90:2465:2988 1/1:.,.,0:232:0:229:6140:0 1/1:.,.,0:225:2:215:5575:46 0/1:.,.,-107.664:242:127:106:2839:3275 1/1:.,.,0:218:0:213:6066:0 1/1:.,.,0:178:1:173:4726:14 1/1:.,.,0:106:0:99:2578:0 0/1:.,.,-80.008:146:85:54:1473:2434 1/1:.,.,0:257:3:247:6866:55 1/1:.,.,0:250:0:248:7075:0 1/1:.,.,0:163:2:155:4309:46 1/1:.,.,0:155:2:150:4090:50 1/1:.,.,0:118:2:116:3053:72 1/1:.,.,0:186:4:177:4907:78 1/1:.,.,0:242:0:236:6547:0 1/1:.,.,0:250:1:243:6781:36 0/1:.,.,-61.2597:186:93:86:2304:2382 0/1:.,.,-67.1113:208:97:96:2699:2524 1/1:.,.,0:215:1:210:5702:14 0/1:.,.,-36.0858:111:48:56:1558:1371 1/1:.,.,0:213:1:209:5675:36 1/1:.,.,0:106:2:103:2811:41 1/1:.,.,0:137:1:134:3776:14 0/1:.,.,-64.0755:209:86:109:3052:2370 1/1:.,.,0:200:0:199:5779:0 1/1:.,.,0:201:3:192:5537:78 0/1:.,.,-136.001:258:140:108:2859:3704 0/1:.,.,-144.935:264:142:106:2988:3949 . 0/1:.,.,-339.493:385:199:184:5729:6221:199,184 0/1:.,.,-197.28:272:120:146:4541:3743:120,146 1/1:.,.,0:282:1:280:9016:36:1,280 1/1:-538.766,-73.8726,0:275:2:252:6497:50:2,252 0/1:.,.,-181.885:271:120:147:4385:3727:120,147 1/1:-463.483,-64.327,0:252:2:229:5698:72:2,229 1/1:-547.53,-72.738,0:289:3:260:6621:86:3,260 1/1:.,.,0:307:3:302:9479:108:3,302 1/1:.,.,0:273:1:268:8445:32:1,268 0/1:.,.,-239.047:306:154:144:4547:4618:154,144 1/1:.,.,0:319:4:314:9840:118:4,314 1/1:.,.,0:226:1:219:6906:36:1,219 1/1:-502.721,-68.8277,0:255:1:238:6104:36:1,238 1/1:-547.475,-75.2575,0:267:0:250:6566:0:0,250 1/1:-506.382,-75.9214,0:284:2:260:6142:50:2,260 1/1:.,.,0:257:0:257:8116:0:0,257 1/1:.,.,0:311:3:306:9801:99:3,306 1/1:-520.884,-70.9202,0:273:2:247:6296:65:2,247 1/1:-448.531,-61.4625,0:220:1:204:5373:36:1,204 1/1:.,.,0:259:3:250:8023:86:3,250 chr17 78087028 . G A 4032.11 . AB=0.473159;ABP=8.02285;AC=2;AF=0.5;AN=4;AO=379;CIGAR=1X;DP=1712;DPB=801;DPRA=0;EPP=46.3767;EPPR=6.79359;GTI=0;LEN=1;MEANALT=3;MQM=28.1266;MQMR=28.5928;NS=1;NUMALT=1;ODDS=1058.85;PAIRED=0.836412;PAIREDR=0.793814;PAO=0;PQA=0;PQR=0;PRO=0;QA=10130;QR=11583;RO=388;RPL=172;RPP=10.0289;RPPR=17.0017;RPR=207;RUN=1;SAF=181;SAP=4.66612;SAR=198;SF=0;SRF=198;SRP=3.36848;SRR=190;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.G2052A:p.P684P,GAA:NM_001079804:exon15:c.G2052A:p.P684P,GAA:NM_001079803:exon16:c.G2052A:p.P684P;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs546463058;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0004;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=375747;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4892;dpsi_zscore=-1.081;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.998e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.311e-05;gnomAD_exome_FIN=5.578e-05;gnomAD_exome_NFE=8.05e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=7.112e-05;gnomAD_genome_ALL=6.47e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-472.809,0,-561.444:801:388:379:10130:11583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-362.821,0,-836.607:911:516:355:9174:15687 . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78087041 . G A 7401.56 . AB=0.444104;ABP=38.4522;AC=7;AF=0.5;AN=14;AO=580;CIGAR=1X;DP=8923;DPB=1306;DPRA=0;EPP=11.6363;EPPR=3.04023;GTI=0;LEN=1;MEANALT=3;MQM=26.6569;MQMR=30.3951;NS=1;NUMALT=1;ODDS=1523.19;PAIRED=0.767241;PAIREDR=0.754977;PAO=0;PQA=0;PQR=0;PRO=0;QA=15590;QR=20137;RO=653;RPL=317;RPP=13.9276;RPPR=34.2988;RPR=263;RUN=1;SAF=279;SAP=4.82236;SAR=301;SF=0,1;SRF=291;SRP=19.7735;SRR=362;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.G2065A:p.E689K,GAA:NM_001079804:exon15:c.G2065A:p.E689K,GAA:NM_001079803:exon16:c.G2065A:p.E689K;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0296;esp6500siv2_ea=0.0348;esp6500siv2_all=0.0296;esp6500siv2_ea=0.0348;1000g2015aug_all=0.0780751;avsnp147=rs1800309;Kaviar_AF=0.0494172;Kaviar_AC=7640;Kaviar_AN=154602;ExAC_ALL=0.0880;ExAC_AFR=0.0302;ExAC_AMR=0.0456;ExAC_EAS=0.3103;ExAC_FIN=0.1277;ExAC_NFE=0.0675;ExAC_OTH=0.0842;ExAC_SAS=0.0807;CLNALLELEID=19069;CLNDN=Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=.|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_other;SIFT_score=0.35;SIFT_pred=T;Polyphen2_HDIV_score=0.092;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.072;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.685;MutationAssessor_pred=L;FATHMM_score=-3.23;FATHMM_pred=D;PROVEAN_score=-1.16;PROVEAN_pred=N;VEST3_score=0.094;CADD_raw=2.321;CADD_phred=18.31;DANN_score=0.933;fathmm-MKL_coding_score=0.520;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.731;integrated_confidence_value=0;GERP++_RS=1.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.072;phastCons7way_vertebrate=0.921;phastCons20way_mammalian=0.911;SiPhy_29way_logOdds=6.571;GDI_full_10282015=.;dpsi_max_tissue=0.0894;dpsi_zscore=0.450;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM088196#"Reduced_activity";gnomAD_exome_ALL=0.0551;gnomAD_exome_AFR=0.0195;gnomAD_exome_AMR=0.0254;gnomAD_exome_ASJ=0.0410;gnomAD_exome_EAS=0.2357;gnomAD_exome_FIN=0.0625;gnomAD_exome_NFE=0.0385;gnomAD_exome_OTH=0.0554;gnomAD_exome_SAS=0.0622;gnomAD_genome_ALL=0.0532;gnomAD_genome_AFR=0.0206;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.2429;gnomAD_genome_FIN=0.0767;gnomAD_genome_NFE=0.0470;gnomAD_genome_OTH=0.0684;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-672.669,0,-1041.18:1306:653:580:15590:20137 . . . . . . . . . 0/1:-631.778,0,-824.804:1149:560:509:13676:17048 . . . . . . 0/1:-602.683,0,-947.267:1098:568:486:13086:17815 . . . . . 0/1:-703.721,0,-1188.69:1438:763:610:16500:23282 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-659.291,0,-1026.59:1245:641:539:14484:19758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-574.515,0,-945.637:1183:622:500:13474:19124 . . . . . . . . . 0/1:-1292.69,0,-1605.52:1504:783:702:21188:25106:783,702 . . . . . . . . . . . . . . chr17 78087108 . CA CG 38638.40 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1536;CIGAR=1M1X;DP=1591;DPB=1630;DPRA=0;EPP=8.44464;EPPR=6.62942;GTI=0;LEN=1;MEANALT=9;MQM=37.6953;MQMR=33.9333;NS=1;NUMALT=1;ODDS=2096.47;PAIRED=0.888672;PAIREDR=0.8;PAO=36;PQA=1098;PQR=1098;PRO=36;QA=47264;QR=457;RO=15;RPL=583;RPP=196.548;RPPR=3.15506;RPR=953;RUN=1;SAF=752;SAP=4.45795;SAR=784;SF=1;SRF=7;SRP=3.15506;SRR=8;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=GAA:NM_000152:exon15:c.2133delA:p.T711fs,GAA:NM_001079804:exon15:c.2133delA:p.T711fs,GAA:NM_001079803:exon16:c.2133delA:p.T711fs;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3886.68,-474.849,0:1591:15:1536:47264:457:15,1536 . . . . . . . . . . . . . . chr17 78087109 . A G 11185.13 . AB=0.458333;ABP=16.0391;AC=91;AF=0.5;AN=154;AO=396;CIGAR=1X;DP=95507;DPB=864;DPRA=0;EPP=3.79993;EPPR=41.9914;GTI=0;LEN=1;MEANALT=3;MQM=28.1111;MQMR=30.8252;NS=1;NUMALT=1;ODDS=1133.36;PAIRED=0.795455;PAIREDR=0.791262;PAO=0;PQA=0;PQR=0;PRO=0;QA=10767;QR=11289;RO=412;RPL=159;RPP=36.372;RPPR=41.9914;RPR=237;RUN=1;SAF=213;SAP=7.94546;SAR=183;SF=0,1;SRF=204;SRP=3.09463;SRR=208;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.A2133G:p.T711T,GAA:NM_001079804:exon15:c.A2133G:p.T711T,GAA:NM_001079803:exon16:c.A2133G:p.T711T;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.2255;esp6500siv2_ea=0.2793;esp6500siv2_all=0.2255;esp6500siv2_ea=0.2793;1000g2015aug_all=0.241613;avsnp147=rs1800310;Kaviar_AF=0.244932;Kaviar_AC=37867;Kaviar_AN=154602;ExAC_ALL=0.3423;ExAC_AFR=0.1521;ExAC_AMR=0.2329;ExAC_EAS=0.4253;ExAC_FIN=0.4765;ExAC_NFE=0.3708;ExAC_OTH=0.3548;ExAC_SAS=0.3212;CLNALLELEID=98382;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3485;dpsi_zscore=0.957;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2710;gnomAD_exome_AFR=0.1089;gnomAD_exome_AMR=0.1537;gnomAD_exome_ASJ=0.3451;gnomAD_exome_EAS=0.3613;gnomAD_exome_FIN=0.3546;gnomAD_exome_NFE=0.2879;gnomAD_exome_OTH=0.2933;gnomAD_exome_SAS=0.2833;gnomAD_genome_ALL=0.2537;gnomAD_genome_AFR=0.1149;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.3609;gnomAD_genome_EAS=0.3680;gnomAD_genome_FIN=0.3702;gnomAD_genome_NFE=0.2959;gnomAD_genome_OTH=0.2825;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-503.248,0,-581.747:864:412:396:10767:11289 0/1:-749.181,0,-782.611:1294:579:604:16290:16050 1/1:-1923.08,-297.204,0:1078:14:1042:28598:333 . . 0/1:-1323.34,0,-972.946:1821:743:962:26327:21012 1/1:-1903.07,-289.748,0:1046:5:999:27141:154 0/1:-984.218,0,-933.122:1515:663:730:20460:18708 0/1:-755.089,0,-700.569:1186:532:567:15418:14844 . . 1/1:-1988.3,-292.453,0:1132:18:1086:30067:509 . 0/1:-545.973,0,-516.809:979:420:485:12873:11201 . . 1/1:-1719.34,-261.439,0:950:11:903:24775:282 . 0/1:-685.688,0,-691.238:1040:480:491:13939:13312 0/1:-498.562,0,-533.153:874:402:414:11164:11272 . 0/1:-667.758,0,-735.299:1106:514:531:14273:14439 1/1:-1135.11,-182.231,0:641:6:624:17128:132 . 0/1:-826.851,0,-899.544:1416:657:662:17932:17993 0/1:-528.598,0,-603.063:963:448:436:11752:12413 1/1:-2428.43,-350.481,0:1374:23:1302:36147:686 0/1:-865.73,0,-570.945:1096:434:585:16599:12173 . 0/1:-671.356,0,-638.896:1013:458:479:13405:12421 0/1:-616.859,0,-667.111:965:443:455:12632:12686 0/1:-798.876,0,-733.175:1173:527:571:15733:14586 . 0/1:-956.358,0,-911.057:1607:716:770:20521:19433 . . 1/1:-3541.11,-548.455,0:1952:11:1870:50897:256 . . 0/1:-641.38,0,-570.763:966:428:475:12989:11787 1/1:-2343.64,-354.297,0:1249:13:1209:33502:313 1/1:-2192.31,-331.404,0:1201:11:1147:31663:249 0/1:-763.333,0,-826.625:1229:569:566:15471:16132 0/1:-676.634,0,-686.1:1120:500:538:14289:13908 0/1:-862.732,0,-624.118:1167:479:621:17055:13385 . 0/1:-850.44,0,-753.792:1311:586:638:17441:16290 0/1:-482.491,0,-434.361:715:320:347:9711:8892 1/1:-1530.04,-215.049,0:871:20:823:23052:546 0/1:-951.594,0,-867.541:1390:597:704:19283:16880 1/1:-2515.32,-390.121,0:1374:9:1330:36550:195 0/1:-632.975,0,-655.364:1131:518:522:14301:14035 1/1:-2292.8,-340.134,0:1310:22:1229:33530:527 1/1:-2837.84,-447.709,0:1614:16:1555:42732:368 . . 1/1:-2400.92,-378.047,0:1327:5:1282:34930:119 0/1:-509.284,0,-401.843:738:306:380:10189:8521 0/1:-583.622,0,-389.905:821:326:440:12018:8754 0/1:-976.221,0,-960.203:1548:666:757:20467:18794 0/1:-523.28,0,-522.323:910:404:449:11963:11125 . 0/1:-886.613,0,-737.273:1279:542:648:17519:14829 . 0/1:-892.938,0,-949.806:1454:689:677:18376:18703 . 0/1:-424.068,0,-451.074:773:361:353:9817:9771 0/1:-800.661,0,-639.798:1127:477:569:15512:13232 0/1:-808.271,0,-807.259:1325:599:616:16489:16486 . 0/1:-744.989,0,-803.629:1271:593:593:16492:16365 0/1:-1030.61,0,-1007.8:1599:712:774:20851:19628 0/1:-833.025,0,-853.827:1350:614:637:17107:17363 0/1:-423.045,0,-349.778:717:306:354:9611:8177 0/1:-652.803,0,-693.986:994:464:478:13230:13312 0/1:-1079.31,0,-941.418:1632:714:799:22128:19759 0/1:-887.604,0,-710.005:1354:560:696:18870:15972 0/1:-846.307,0,-742.594:1283:563:631:17641:15633 . 0/1:-547.473,0,-447.476:834:341:441:11842:9514 0/1:-817.78,0,-705.43:1240:534:614:17269:14759 . . 0/1:-722.234,0,-668.887:1132:483:562:14929:13286 0/1:-756.452,0,-678.762:1192:514:601:16369:14194 . 0/1:-512.392,0,-487.8:804:343:410:10858:9596 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GCCCT ACCCT,ACCCC 10370.56 . 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GTAGA ATAGA 11381.13 . AB=0.395833;ABP=84.4405;AC=190;AF=0.5;AN=226;AO=342;CIGAR=1X;DP=107410;DPB=864;DPRA=0;EPP=20.1789;EPPR=16.6569;GTI=0;LEN=1;MEANALT=3;MQM=26.2749;MQMR=27.0043;NS=1;NUMALT=1;ODDS=734.752;PAIRED=0.921053;PAIREDR=0.881466;PAO=0;PQA=0;PQR=0;PRO=0;QA=8714;QR=13137;RO=464;RPL=157;RPP=7.98818;RPPR=7.22221;RPR=185;RUN=1;SAF=196;SAP=18.8836;SAR=146;SF=0,1;SRF=236;SRP=3.30981;SRR=228;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.7332;esp6500siv2_ea=0.7499;esp6500siv2_all=0.7332;esp6500siv2_ea=0.7499;1000g2015aug_all=0.711861;avsnp147=rs1126690;Kaviar_AF=0.720676;Kaviar_AC=111418;Kaviar_AN=154602;ExAC_ALL=0.7296;ExAC_AFR=0.7010;ExAC_AMR=0.4712;ExAC_EAS=0.6212;ExAC_FIN=0.7962;ExAC_NFE=0.7645;ExAC_OTH=0.7617;ExAC_SAS=0.8168;CLNALLELEID=98385;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.593;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.508;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_pred=N;VEST3_score=0.058;CADD_raw=-0.394;CADD_phred=0.400;DANN_score=0.651;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.975;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-2.09;phyloP7way_vertebrate=-1.016;phyloP20way_mammalian=-0.437;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.213;SiPhy_29way_logOdds=5.965;GDI_full_10282015=.;dpsi_max_tissue=1.8261;dpsi_zscore=1.911;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7182;gnomAD_exome_AFR=0.6946;gnomAD_exome_AMR=0.4860;gnomAD_exome_ASJ=0.7993;gnomAD_exome_EAS=0.6209;gnomAD_exome_FIN=0.7983;gnomAD_exome_NFE=0.7566;gnomAD_exome_OTH=0.7403;gnomAD_exome_SAS=0.8130;gnomAD_genome_ALL=0.7265;gnomAD_genome_AFR=0.6930;gnomAD_genome_AMR=0.5144;gnomAD_genome_ASJ=0.7867;gnomAD_genome_EAS=0.6057;gnomAD_genome_FIN=0.7902;gnomAD_genome_NFE=0.7527;gnomAD_genome_OTH=0.7582;Whole_Blood=Whole_Blood::0.280488::-0.318547;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-628.063:864:464:342:8714:13137 0/1:.,.,-770.617:1114:566:463:11586:15905 1/1:.,.,0:812:6:703:17125:102 0/1:.,.,-424.748:593:326:231:5779:9125 1/1:.,.,0:892:12:773:19430:203 0/1:.,.,-1025.64:1397:745:563:14639:20980 1/1:.,.,0:833:15:733:18417:351 1/1:.,.,0:1088:10:946:23747:184 0/1:.,.,-784.764:1054:557:425:10688:15874 0/1:.,.,-819.16:1180:605:489:12135:17317 0/1:.,.,-633.97:879:456:357:8912:12878 1/1:.,.,0:926:10:799:20052:220 1/1:.,.,0:870:8:748:18641:156 0/1:.,.,-567.082:863:436:353:8566:12105 0/1:.,.,-664.852:837:460:315:8362:13073 1/1:.,.,0:1314:12:1143:28815:186 1/1:.,.,0:677:3:603:15083:42 1/1:.,.,0:2057:24:1771:44488:485 1/1:.,.,0:845:8:745:18858:112 1/1:.,.,0:678:5:588:14190:70 0/1:.,.,-609.622:795:439:298:7154:12395 1/1:.,.,0:1001:9:896:22216:133 1/1:.,.,0:541:2:476:11949:41 . 1/1:.,.,0:1138:7:1003:24909:105 1/1:.,.,0:710:8:614:14890:134 1/1:.,.,0:1053:20:918:23280:481 0/1:.,.,-784.59:949:507:380:9321:14583 1/1:.,.,0:743:5:652:15972:83 1/1:.,.,0:749:8:662:17018:240 1/1:.,.,0:709:14:607:15265:319 1/1:.,.,0:981:10:871:22345:206 . 0/1:.,.,-901.956:1137:604:455:11092:17552 1/1:.,.,0:874:8:783:20191:152 1/1:.,.,0:1025:11:880:21959:263 1/1:.,.,0:1220:12:1069:26959:210 0/1:.,.,-607.315:780:426:299:7493:12133 0/1:.,.,-748.849:1009:540:398:9741:15354 1/1:.,.,0:755:6:667:16999:91 1/1:.,.,0:1012:13:890:22466:222 1/1:.,.,0:1046:9:908:22979:202 0/1:.,.,-821.435:1084:587:419:10692:16548 0/1:.,.,-816.629:981:571:348:8736:16140 1/1:.,.,0:1122:9:993:25091:166 1/1:.,.,0:984:10:867:21770:184 0/1:.,.,-811.141:1064:557:432:10866:16015 0/1:.,.,-444.492:611:302:269:7143:8647 1/1:.,.,0:655:10:566:14567:153 0/1:.,.,-869.784:1118:628:408:10105:18093 1/1:.,.,0:1026:18:899:22613:402 1/1:.,.,0:857:7:743:18210:174 1/1:.,.,0:1032:13:889:22783:204 1/1:.,.,0:1203:8:1053:25594:130 0/1:.,.,-557.869:741:407:272:6962:11002 1/1:.,.,0:737:6:650:16536:97 1/1:.,.,0:1102:5:970:24737:83 1/1:.,.,0:513:11:442:11137:198 0/1:.,.,-466.016:687:328:316:7904:9433 1/1:.,.,0:1060:7:924:23189:169 0/1:.,.,-541.28:693:389:245:6337:10656 0/1:.,.,-893.084:1226:648:490:12177:18596 1/1:.,.,0:836:12:732:19017:228 1/1:.,.,0:642:4:554:13594:63 1/1:.,.,0:1061:14:945:23700:271 1/1:.,.,0:978:10:851:21207:153 1/1:.,.,0:524:7:433:10207:167 0/1:.,.,-656.801:856:445:351:8749:13015 1/1:.,.,0:918:11:790:19511:205 1/1:.,.,0:946:14:824:20675:293 0/1:.,.,-805.246:1038:586:379:9528:16668 1/1:.,.,0:1119:14:973:24486:238 1/1:.,.,0:1036:15:896:22796:252 1/1:.,.,0:568:10:483:12296:158 0/1:.,.,-615.81:778:411:319:8388:11849 1/1:.,.,0:1200:10:1043:25932:242 1/1:.,.,0:979:6:860:21651:106 1/1:.,.,0:1067:12:935:23531:230 1/1:.,.,0:670:5:593:14760:101 1/1:.,.,0:566:6:499:12804:128 1/1:.,.,0:970:16:834:20985:304 1/1:.,.,0:1226:7:1079:27537:116 1/1:.,.,0:1110:11:992:24519:238 0/1:.,.,-778.172:1006:534:396:9664:15407 0/1:.,.,-733.365:944:520:352:9072:15399 1/1:.,.,0:884:4:789:20440:69 0/1:.,.,-568.897:705:397:251:6319:11316 1/1:.,.,0:958:15:835:20818:274 1/1:.,.,0:525:3:462:11414:42 1/1:.,.,0:853:13:731:17280:283 0/1:.,.,-960.384:1236:648:503:12382:18749 1/1:.,.,0:925:5:811:19934:110 1/1:.,.,0:1130:18:976:24231:318 0/1:.,.,-911.465:1212:623:492:12255:17678 0/1:.,.,-925.171:1321:685:537:13499:19203 . 0/1:.,.,-1475.82:1398:754:621:19014:23743:754,621 0/1:.,.,-1263.87:1132:622:488:14801:19976:622,488 1/1:-2275.19,-293.092,0:1090:2:965:26581:66:2,965 1/1:-1658.03,-201.236,0:787:4:694:19368:120:4,694 0/1:.,.,-1172.36:1038:579:440:13328:18434:579,440 1/1:-1987.79,-250.458,0:958:0:823:23086:0:0,823 1/1:.,.,0:905:3:884:26860:78:3,884 1/1:-2120.56,-271.83,0:1026:0:893:24721:0:0,893 1/1:-1888.72,-245.703,0:938:2:815:22100:49:2,815 0/1:.,.,-1498.87:1346:756:567:16458:24106:756,567 1/1:.,.,0:1047:3:1020:31296:104:3,1020 1/1:-1538.12,-203.301,0:774:1:667:18010:27:1,667 1/1:-1835.09,-236.911,0:879:0:771:21324:0:0,771 1/1:-1752.95,-220.537,0:862:3:743:20476:93:3,743 1/1:.,.,0:1054:12:1019:30679:379:12,1019 1/1:-1889.18,-231.97,0:932:4:792:22155:135:4,792 1/1:.,.,0:1000:1:977:29761:14:1,977 1/1:.,.,0:951:2:928:27903:64:2,928 1/1:.,.,0:834:2:817:25057:68:2,817 1/1:.,.,0:1176:14:1136:34407:444:14,1136 chr17 78091484 . C T 6181.39 . AB=0.459569;ABP=24.0812;AC=1;AF=0.5;AN=2;AO=682;CIGAR=1X;DP=1484;DPB=1484;DPRA=0;EPP=31.1439;EPPR=134.082;GTI=0;LEN=1;MEANALT=3;MQM=25.6774;MQMR=27.5843;NS=1;NUMALT=1;ODDS=1423.32;PAIRED=0.876833;PAIREDR=0.87426;PAO=0;PQA=0;PQR=0;PRO=0;QA=15975;QR=19821;RO=676;RPL=333;RPP=3.8254;RPPR=4.56502;RPR=349;RUN=1;SAF=253;SAP=101.637;SAR=429;SF=0;SRF=196;SRP=262.097;SRR=480;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon17:c.C2417T:p.T806M,GAA:NM_001079804:exon17:c.C2417T:p.T806M,GAA:NM_001079803:exon18:c.C2417T:p.T806M;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs139850074;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0012;ExAC_SAS=0.0002;CLNALLELEID=247145;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.812;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.16;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.926;MutationTaster_pred=N;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=-3.02;FATHMM_pred=D;PROVEAN_score=-1.44;PROVEAN_pred=N;VEST3_score=0.49;CADD_raw=3.502;CADD_phred=23.1;DANN_score=0.990;fathmm-MKL_coding_score=0.049;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.118;MetaSVM_pred=T;MetaLR_score=0.580;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.66;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.803;phastCons7way_vertebrate=0.947;phastCons20way_mammalian=0.579;SiPhy_29way_logOdds=5.977;GDI_full_10282015=.;dpsi_max_tissue=-0.3584;dpsi_zscore=-0.933;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=6.645e-05;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.021e-05;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-639.214,0,-916.994:1484:676:682:15975:19821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr17 78091984 . C G 8100.06 . AB=0.480568;ABP=7.39869;AC=1;AF=0.5;AN=2;AO=643;CIGAR=1X;DP=1338;DPB=1338;DPRA=0;EPP=41.6747;EPPR=77.2258;GTI=0;LEN=1;MEANALT=3;MQM=29.5334;MQMR=31.6538;NS=1;NUMALT=1;ODDS=1865.11;PAIRED=0.894246;PAIREDR=0.881657;PAO=0;PQA=0;PQR=0;PRO=0;QA=17363;QR=19655;RO=676;RPL=233;RPP=108.811;RPPR=164.188;RPR=410;RUN=1;SAF=375;SAP=41.6747;SAR=268;SF=0;SRF=344;SRP=3.47286;SRR=332;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.5345;dpsi_zscore=-2.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.078e-06;gnomAD_exome_AFR=6.556e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-836.808,0,-1044.81:1338:676:643:17363:19655 . . . . . . . . . . . . . . . . . . . . . . chr17 78092060 . TGGG TGGA,GGGG 13104.04 . AB=0;ABP=0;AC=8,0;AF=0;AN=40;AO=143;CIGAR=1X;DP=28276;DPB=1615;DPRA=0;EPP=39.4698;EPPR=25.5272;GTI=0;LEN=1;MEANALT=3;MQM=36.8042;MQMR=38.3064;NS=1;NUMALT=1;ODDS=1189.69;PAIRED=0.888112;PAIREDR=0.900617;PAO=0;PQA=0;PQR=0;PRO=0;QA=2999;QR=39289;RO=1459;RPL=68;RPP=3.75437;RPPR=29.3374;RPR=75;RUN=1;SAF=33;SAP=93.0429;SAR=110;SF=1;SRF=709;SRP=5.51218;SRR=750;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=GAA:NM_000152:exon18:c.2553delG:p.G851fs,GAA:NM_001079804:exon18:c.2553delG:p.G851fs,GAA:NM_001079803:exon19:c.2553delG:p.G851fs\x3bGAA:NM_000152:exon18:c.2553delG:p.G851fs,GAA:NM_001079804:exon18:c.2553delG:p.G851fs,GAA:NM_001079803:exon19:c.2553delG:p.G851fs;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon18:c.T2550G:p.G850G,GAA:NM_001079804:exon18:c.T2550G:p.G850G,GAA:NM_001079803:exon19:c.T2550G:p.G850G;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.3098;dpsi_zscore=-1.631;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-3023.78:1615:1459:.,143:.,2999:39289:1459,143 0/0:.,.,.,.,.,-2857.97:1527:1388:.,122:.,2400:36782:1388,122 0/0:.,.,.,.,.,-2770.52:1509:1361:.,128:.,3131:36405:1361,128 0/0:.,.,.,.,.,-1957.98:1068:982:.,77:.,1884:26079:982,77 0/0:.,.,.,.,.,-2618.13:1383:1255:.,117:.,2396:34119:1255,117 0/0:.,.,.,.,.,-2879.85:1539:1392:.,135:.,2788:37394:1392,135 0/0:.,.,.,.,.,-2340.44:1260:1148:.,92:.,2263:30706:1148,92 1/1:-3234.83,-348.544,0,.,.,.:1541:8:1320,.:39581,.:244:8,1320 0/0:.,.,.,.,.,-2549.26:1365:1250:.,103:.,2535:33604:1250,103 0/0:.,.,.,.,.,-3146.56:1663:1521:.,128:.,2707:40210:1521,128 0/0:.,.,.,.,.,-2968.17:1580:1443:.,121:.,2950:38600:1443,121 0/0:.,.,.,.,.,-2038.47:1091:1008:.,72:.,1759:26621:1008,72 0/0:.,.,.,.,.,-2585.98:1404:1278:.,112:.,2748:34468:1278,112 0/0:.,.,.,.,.,-2418.7:1280:1170:.,92:.,2315:31346:1170,92 1/1:-3130.98,-316.617,0,.,.,.:1519:22:1307,.:39068,.:650:22,1307 1/1:-2872.06,-294.395,0,.,.,.:1356:13:1178,.:35539,.:365:13,1178 0/0:.,.,.,.,.,-2918.92:1502:1393:.,99:.,2507:37714:1393,99 0/0:.,.,.,.,.,-2402.38:1284:1176:.,97:.,2374:31094:1176,97 1/1:-2594.72,-262.35,0,.,.,.:1191:8:1046,.:32268,.:233:8,1046 0/0:.,.,.,.,.,-3018.78:1599:1467:.,116:.,2430:39104:1467,116 chr17 78092061 . GGG GGA 30450.25 . AB=0;ABP=0;AC=20;AF=1;AN=20;AO=1414;CIGAR=2M1X;DP=13262;DPB=1531;DPRA=0;EPP=10.5352;EPPR=12.937;GTI=0;LEN=1;MEANALT=14;MQM=38.3444;MQMR=40.5;NS=1;NUMALT=1;ODDS=1870.59;PAIRED=0.91867;PAIREDR=0.857143;PAO=14;PQA=398;PQR=398;PRO=15;QA=41997;QR=416;RO=14;RPL=745;RPP=11.8805;RPPR=3.63072;RPR=669;RUN=1;SAF=645;SAP=26.6231;SAR=769;SF=1;SRF=7;SRP=3.0103;SRR=7;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=GAA:NM_000152:exon18:c.2553delG:p.G851fs,GAA:NM_001079804:exon18:c.2553delG:p.G851fs,GAA:NM_001079803:exon19:c.2553delG:p.G851fs\x3bGAA:NM_000152:exon18:c.2553delG:p.G851fs,GAA:NM_001079804:exon18:c.2553delG:p.G851fs,GAA:NM_001079803:exon19:c.2553delG:p.G851fs;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3485.93,-410.646,0:1504:14:1414:41997:416:14,1414 1/1:-2342.5,-284.131,0:1066:10:972:28715:285:10,972 . . 1/1:-2865.87,-360.551,0:1256:4:1171:34842:103:4,1171 . 1/1:-3112.75,-386.729,0:1356:7:1270:37755:213:7,1270 . 1/1:-3682.31,-450.38,0:1569:10:1474:44134:284:10,1474 1/1:-2524.3,-307.647,0:1093:6:1037:30814:175:6,1037 1/1:-3130.93,-393.878,0:1390:11:1301:38432:285:11,1301 1/1:-2976.69,-364.995,0:1260:6:1193:35799:164:6,1193 . . 1/1:-3523.52,-431.464,0:1504:5:1429:42535:140:5,1429 1/1:-2880.93,-342.36,0:1264:16:1181:34829:472:16,1181 . . chr17 78092063 . G A 15451.50 . AB=0.447503;ABP=26.4936;AC=147;AF=0.5;AN=194;AO=439;CIGAR=1X;DP=129422;DPB=981;DPRA=0;EPP=22.6426;EPPR=17.3209;GTI=0;LEN=1;MEANALT=3;MQM=28.0205;MQMR=29.9249;NS=1;NUMALT=1;ODDS=1184.96;PAIRED=0.81549;PAIREDR=0.805274;PAO=0;PQA=0;PQR=0;PRO=0;QA=11569;QR=15315;RO=493;RPL=254;RPP=26.5601;RPPR=55.3415;RPR=185;RUN=1;SAF=185;SAP=26.5601;SAR=254;SF=0,1;SRF=222;SRP=13.5858;SRR=271;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon18:c.G2553A:p.G851G,GAA:NM_001079804:exon18:c.G2553A:p.G851G,GAA:NM_001079803:exon19:c.G2553A:p.G851G;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6048;esp6500siv2_ea=0.6427;esp6500siv2_all=0.6048;esp6500siv2_ea=0.6427;1000g2015aug_all=0.509385;avsnp147=rs1042397;Kaviar_AF=0.574527;Kaviar_AC=88823;Kaviar_AN=154602;ExAC_ALL=0.5805;ExAC_AFR=0.5401;ExAC_AMR=0.4184;ExAC_EAS=0.2798;ExAC_FIN=0.6494;ExAC_NFE=0.6465;ExAC_OTH=0.6230;ExAC_SAS=0.5826;CLNALLELEID=98390;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4209;dpsi_zscore=1.743;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5725;gnomAD_exome_AFR=0.5316;gnomAD_exome_AMR=0.4295;gnomAD_exome_ASJ=0.7024;gnomAD_exome_EAS=0.2786;gnomAD_exome_FIN=0.6486;gnomAD_exome_NFE=0.6386;gnomAD_exome_OTH=0.6106;gnomAD_exome_SAS=0.5727;gnomAD_genome_ALL=0.5779;gnomAD_genome_AFR=0.5344;gnomAD_genome_AMR=0.4642;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.2735;gnomAD_genome_FIN=0.6269;gnomAD_genome_NFE=0.6279;gnomAD_genome_OTH=0.5973;Whole_Blood=Whole_Blood::0.383469::-0.321299;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-529.127,0,-786.581:981:493:439:11569:15315 . 1/1:-1992.86,-302.168,0:1145:14:1052:28657:305 0/1:-493.586,0,-674.6:867:429:390:10531:13176 1/1:-2299.11,-340.721,0:1391:41:1270:33671:853 0/1:-1031.45,0,-1564.61:1846:975:801:21548:30063 1/1:-1820.5,-283.934,0:1080:15:988:26082:245 1/1:-2476.22,-357.921,0:1447:30:1312:34837:648 0/1:-830.979,0,-1065.81:1342:667:615:16490:20126 0/1:-843.137,0,-1102.75:1417:703:650:17384:22054 0/1:-727.031,0,-936.388:1298:631:597:15848:19402 0/1:-671.692,0,-972.14:1236:619:559:14734:18989 1/1:-2050.96,-303.902,0:1187:22:1080:28977:395 0/1:-657.819,0,-719.449:1081:499:525:13852:14940 0/1:-655.352,0,-694.516:1017:454:496:13122:13976 1/1:-3251.32,-481.762,0:1846:36:1695:45630:649 1/1:-1697,-269.31,0:986:8:913:24165:143 1/1:-5156.93,-732.082,0:2983:68:2735:73518:1508 0/1:-720.695,0,-924.215:1146:569:536:14659:17595 0/1:-553.527,0,-625.129:889:416:444:11903:12710 0/1:-576.333,0,-768.37:1027:506:466:12313:15709 1/1:-2413.11,-358.524,0:1370:30:1258:34335:514 1/1:-1332.22,-203.803,0:799:16:724:19392:303 . 0/1:-981.143,0,-1189.67:1588:778:753:20207:23679 1/1:-1680.36,-265.865,0:1057:23:951:24853:480 1/1:-2503.79,-377.135,0:1476:27:1351:35325:559 0/1:-711.597,0,-1015.24:1240:633:539:14681:19901 1/1:-1938.43,-296.607,0:1158:24:1063:27973:433 1/1:-1984.94,-284.334,0:1115:22:1026:27530:458 0/1:-554.529,0,-899.006:1053:561:441:11845:17379 1/1:-2542.17,-364.657,0:1470:36:1326:35644:733 . 0/1:-922.175,0,-1170.04:1560:761:714:18961:23141 1/1:-1931.02,-284.331,0:1126:31:1038:28142:570 1/1:-2564.12,-370.837,0:1501:38:1357:36765:801 1/1:-3316.74,-505.618,0:1954:25:1767:47486:508 0/1:-600.586,0,-885.431:1080:543:482:12931:16563 0/1:-766.181,0,-957.508:1298:611:612:16218:18741 1/1:-1850.43,-276.944,0:1055:18:970:26462:326 1/1:-2560.2,-387.12,0:1445:20:1344:35897:351 1/1:-2335.01,-343.839,0:1343:26:1228:32762:485 0/1:-755.631,0,-1212.46:1375:747:574:15799:23118 0/1:-755.743,0,-869.55:1239:579:613:16296:17532 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1/1:-2560.82,-380.728,0:1455:27:1332:35310:458 1/1:-1211.42,-190.109,0:755:19:685:17653:336 0/1:-801.035,0,-965.44:1285:609:615:16337:18709 1/1:-2521.74,-373.915,0:1464:33:1335:35452:675 1/1:-2292.71,-353.462,0:1372:27:1259:33500:524 0/1:-774.919,0,-999.196:1319:663:598:15811:20433 1/1:-3300.78,-489.221,0:1827:22:1686:45992:359 1/1:-2430.9,-357.292,0:1416:32:1296:34355:588 1/1:-1347.76,-222.472,0:862:12:779:20821:237 0/1:-764.124,0,-797.495:1135:525:571:15420:16119 0/1:-981.641,0,-1630.81:1961:1035:829:21828:31535 1/1:-2758.64,-404.356,0:1641:41:1498:39819:826 1/1:-2597.28,-388.405,0:1515:28:1395:37117:530 0/1:-544.749,0,-738.32:950:461:437:11507:14160 1/1:-1304.02,-194.257,0:771:14:706:19096:351 1/1:-2340.9,-363.156,0:1415:27:1286:33775:550 1/1:-2717.22,-422.176,0:1587:20:1465:38612:342 1/1:-2564.19,-387.154,0:1575:39:1410:37731:756 0/1:-764.111,0,-866.662:1242:579:594:15839:17838 0/1:-717.355,0,-924.699:1257:636:544:14394:19232 1/1:-2344.02,-355.757,0:1383:29:1259:33734:549 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A G 6780.31 . AB=0.463796;ABP=8.82781;AC=107;AF=0.5;AN=168;AO=237;CIGAR=1X;DP=49910;DPB=511;DPRA=0;EPP=19.9514;EPPR=4.47237;GTI=0;LEN=1;MEANALT=3;MQM=33.5907;MQMR=35.1275;NS=1;NUMALT=1;ODDS=771.573;PAIRED=0.902954;PAIREDR=0.908367;PAO=0;PQA=0;PQR=0;PRO=0;QA=6567;QR=6741;RO=251;RPL=68;RPP=96.4752;RPPR=165.386;RPR=169;RUN=1;SAF=163;SAP=75.5851;SAR=74;SF=0,1;SRF=174;SRP=84.4102;SRR=77;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon37:c.T4752C:p.G1584G,MYOM1:NM_003803:exon38:c.T5040C:p.G1680G;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.5707;esp6500siv2_ea=0.4664;esp6500siv2_all=0.5707;esp6500siv2_ea=0.4664;1000g2015aug_all=0.594449;avsnp147=rs2230164;Kaviar_AF=0.486417;Kaviar_AC=75201;Kaviar_AN=154602;ExAC_ALL=0.5696;ExAC_AFR=0.8033;ExAC_AMR=0.4531;ExAC_EAS=0.5810;ExAC_FIN=0.6215;ExAC_NFE=0.5350;ExAC_OTH=0.5344;ExAC_SAS=0.6015;CLNALLELEID=230806;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4985;gnomAD_exome_AFR=0.7890;gnomAD_exome_AMR=0.3486;gnomAD_exome_ASJ=0.4614;gnomAD_exome_EAS=0.5278;gnomAD_exome_FIN=0.5879;gnomAD_exome_NFE=0.4685;gnomAD_exome_OTH=0.4851;gnomAD_exome_SAS=0.5672;gnomAD_genome_ALL=0.5761;gnomAD_genome_AFR=0.7921;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.47;gnomAD_genome_EAS=0.5453;gnomAD_genome_FIN=0.5833;gnomAD_genome_NFE=0.4680;gnomAD_genome_OTH=0.5286;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-360.489,0,-389.649:511:251:237:6567:6741 1/1:-1356.18,-171.941,0:670:12:651:17985:360 0/1:-426.589,0,-354.203:544:237:276:7617:6439 . 1/1:-1340.66,-190.236,0:672:4:656:17938:109 0/1:-618.409,0,-537.422:781:363:387:10824:9955 1/1:-1142.69,-146.047,0:552:10:533:14799:267 . 1/1:-1214.15,-142.851,0:556:10:538:15651:272 . 1/1:-1109.64,-133.735,0:549:14:521:14743:347 . 0/1:-432.055,0,-348.804:535:242:269:7403:6213 0/1:-363.891,0,-270.251:441:186:243:6645:5022 . . . . . 0/1:-350.211,0,-352.902:467:221:236:6437:6151 0/1:-395.508,0,-324.633:470:214:240:6715:5759 1/1:-1481.02,-195.181,0:695:10:676:18857:203 0/1:-294.006,0,-221.149:368:156:196:5265:4162 0/1:-656.929,0,-500.137:771:332:410:11262:8833 0/1:-486.782,0,-468.449:629:303:293:8441:8105 . 0/1:-649.1,0,-432.253:691:294:371:10622:8072 0/1:-467.311,0,-400.648:601:274:294:8110:7197 1/1:-1093.57,-149.24,0:557:9:535:14925:223 0/1:-385.954,0,-300.829:449:198:234:6633:5351 0/1:-401.132,0,-293.989:489:210:258:7091:5580 0/1:-597.561,0,-444.097:706:305:370:10159:8227 1/1:-1301.47,-164.24,0:663:11:636:17059:367 . 0/1:-449.6,0,-450.325:593:287:280:7684:7901 0/1:-450.497,0,-443.643:626:305:296:8025:7998 0/1:-580.22,0,-571.329:757:368:350:10032:9999 0/1:-431.271,0,-398.977:541:255:263:7577:7006 0/1:-402.476,0,-338.014:525:233:264:7203:6205 0/1:-407.56,0,-275.54:442:185:234:6468:4970 1/1:-1615.57,-212.512,0:760:5:741:20700:139 1/1:-1102.91,-149.426,0:549:7:526:14334:147 . . 1/1:-1592.51,-205.82,0:738:6:717:20233:146 . 0/1:-465.333,0,-422.465:601:276:289:8195:7289 1/1:-751.72,-87.8798,0:344:7:329:9541:191 0/1:-416.014,0,-363.159:497:237:242:7129:6374 0/1:-556.297,0,-545.657:702:347:327:9429:9257 0/1:-510.476,0,-527.92:679:336:312:8854:8968 1/1:-1216.06,-163.639,0:581:5:563:16035:110 0/1:-584.426,0,-582.055:763:362:352:10279:9861 1/1:-1559.67,-201.489,0:754:10:729:20527:239 0/1:-301.615,0,-241.995:417:182:207:5618:4750 0/1:-378.266,0,-382.712:492:246:225:6486:6502 . . 1/1:-874.478,-108.029,0:424:8:401:11347:186 1/1:-1300.58,-161.031,0:640:14:610:16957:349 0/1:-330.774,0,-198.608:366:142:209:5744:3912 0/1:-639.65,0,-514.189:771:354:391:10910:9472 . 1/1:-852.069,-111.094,0:410:4:397:11115:109 . 1/1:-1291.53,-158.201,0:591:9:567:16453:211 . 0/1:-498.893,0,-266.259:518:198:298:8221:5217 0/1:-379.214,0,-379.712:511:242:247:6640:6654 . 0/1:-497.518,0,-356.118:592:259:307:8582:6640 . 0/1:-524.899,0,-614.17:776:398:342:9478:10842 . . 0/1:-648.107,0,-523.472:784:353:392:10914:9312 0/1:-485.359,0,-578.429:713:367:315:8806:9719 0/1:-595.3,0,-467.358:687:308:356:9995:8189 0/1:-316.677,0,-322.061:427:210:200:5520:5629 0/1:-279.416,0,-234.546:358:162:172:4857:4262 0/1:-506.926,0,-463.916:638:309:310:9055:8256 0/1:-452.138,0,-538.156:674:343:299:8395:9286 0/1:-622.56,0,-485.111:726:323:380:10500:8778 0/1:-425.091,0,-348.318:535:244:273:7655:6237 0/1:-448.14,0,-327.128:535:241:273:7566:6284 1/1:-1271.35,-168.389,0:592:3:579:16541:77 0/1:-360.194,0,-284.584:452:200:226:6329:5274 0/1:-420.72,0,-454.531:595:285:281:7439:7794 0/1:-276.262,0,-192.268:301:127:159:4534:3573 1/1:-1169.22,-157.84,0:573:6:554:15269:148 1/1:-1652.03,-226.462,0:795:6:779:21911:124 0/1:-510.991,0,-315.618:533:208:295:8361:5733 . . 0/1:-557.921,0,-440.89:672:292:351:9747:7929 . 1/1:-1701.29,-191.331,0:691:6:673:20311:154:6,673 0/1:-703.061,0,-513.21:637:277:339:10575:8107:277,339 0/1:-803.457,0,-588.74:728:322:389:12002:9472:322,389 . 0/1:-527.448,0,-434.314:525:238:271:7971:6834:238,271 . . 1/1:-1848.26,-174.146,0:733:15:710:22228:509:15,710 0/1:-559.741,0,-600.28:615:311:285:8657:9179:311,285 0/1:-615.588,0,-502.384:593:278:297:9246:7992:278,297 0/1:-723.701,0,-591.932:702:325:355:10860:9152:325,355 0/1:-460.398,0,-527.007:541:279:245:7446:8054:279,245 0/1:-621.203,0,-482.454:569:253:296:9231:7619:253,296 . 0/1:-785.719,0,-645.38:739:335:384:11857:10051:335,384 0/1:-620.555,0,-594.325:652:315:313:9592:9293:315,313 0/1:-609.234,0,-631.187:655:327:304:9364:9623:327,304 0/1:-719.683,0,-444.359:613:251:350:10674:7324:251,350 . . chr18 3067299 . G A 5144.91 . AB=0.461818;ABP=13.4571;AC=2;AF=0.5;AN=4;AO=381;CIGAR=1X;DP=1709;DPB=825;DPRA=0;EPP=12.591;EPPR=15.9475;GTI=0;LEN=1;MEANALT=3;MQM=35.2231;MQMR=35.0323;NS=1;NUMALT=1;ODDS=1250.59;PAIRED=0.92126;PAIREDR=0.957816;PAO=0;PQA=0;PQR=0;PRO=0;QA=9949;QR=12412;RO=403;RPL=112;RPP=143.495;RPPR=119.445;RPR=269;RUN=1;SAF=254;SAP=94.936;SAR=127;SF=0;SRF=249;SRP=51.6394;SRR=154;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon37:c.C4731T:p.A1577A,MYOM1:NM_003803:exon38:c.C5019T:p.A1673A;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000599042;avsnp147=rs199980922;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0028;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=469638;CLNDN=Hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-575.71,0,-739.904:825:403:381:9949:12412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-518.56,0,-840.745:884:466:379:9750:13868 . . . . . . . . . . . . . . . . . . . . . . chr18 3071836 . C T 9294.86 . AB=0.499537;ABP=3.01231;AC=1;AF=0.5;AN=2;AO=539;CIGAR=1X;DP=1079;DPB=1079;DPRA=0;EPP=10.4594;EPPR=8.73813;GTI=0;LEN=1;MEANALT=3;MQM=34.5455;MQMR=36.0231;NS=1;NUMALT=1;ODDS=2140.22;PAIRED=0.875696;PAIREDR=0.878613;PAO=0;PQA=0;PQR=0;PRO=0;QA=16098;QR=16085;RO=519;RPL=258;RPP=5.14149;RPPR=24.1016;RPR=281;RUN=1;SAF=314;SAP=34.9217;SAR=225;SF=0;SRF=281;SRP=10.7464;SRR=238;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon36:c.G4472A:p.G1491E,MYOM1:NM_003803:exon37:c.G4760A:p.G1587E;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.066;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.99;MutationAssessor_pred=M;FATHMM_score=-1.4;FATHMM_pred=T;PROVEAN_score=-4.41;PROVEAN_pred=D;VEST3_score=0.898;CADD_raw=5.869;CADD_phred=27.4;DANN_score=0.997;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=0.618;MetaSVM_pred=D;MetaLR_score=0.730;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.88;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.977;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=18.576;GDI_full_10282015=.;dpsi_max_tissue=3.3760;dpsi_zscore=2.313;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-941.728,0,-970.732:1079:519:539:16098:16085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3075501 . GACGA GACAAAGA,AACGA 2147.74 . AB=0;ABP=0;AC=4,0;AF=0;AN=18;AO=19;CIGAR=1X;DP=2915;DPB=314;DPRA=0;EPP=28.7251;EPPR=62.5267;GTI=0;LEN=1;MEANALT=2;MQM=40.4211;MQMR=39.4879;NS=1;NUMALT=1;ODDS=284.826;PAIRED=0.947368;PAIREDR=0.934256;PAO=0;PQA=0;PQR=0;PRO=0;QA=525;QR=9048;RO=289;RPL=0;RPP=44.2683;RPPR=4.28012;RPR=19;RUN=1;SAF=2;SAP=28.7251;SAR=17;SF=1;SRF=204;SRP=109.412;SRR=85;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;1000g2015aug_all=0.992612;avsnp147=rs10667835;Kaviar_AF=0.0978771;Kaviar_AC=15132;Kaviar_AN=154602;ExAC_ALL=0.9961;ExAC_AFR=0.9993;ExAC_AMR=0.9976;ExAC_EAS=1;ExAC_FIN=0.9930;ExAC_NFE=0.9942;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9956;gnomAD_exome_AFR=0.9993;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=0.9987;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9922;gnomAD_exome_NFE=0.9933;gnomAD_exome_OTH=0.9953;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9949;gnomAD_genome_AFR=0.9987;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9920;gnomAD_genome_NFE=0.9926;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3563;dpsi_zscore=1.712;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-723.757:314:289:.,19:.,525:9048:289,19 . . 0/0:.,.,.,.,.,-492.972:216:198:.,13:.,338:6181:198,13 . . . 1/1:-662.116,-105.36,0,.,.,.:347:0:309,.:7503,.:0:0,309 . 0/0:.,.,.,.,.,-725.668:326:297:.,22:.,580:9142:297,22 . . 0/0:.,.,.,.,.,-706.66:310:283:.,19:.,505:8806:283,19 . 0/0:.,.,.,.,.,-860.241:366:343:.,19:.,539:10664:343,19 1/1:-646.916,-99.3399,0,.,.,.:341:0:300,.:7354,.:0:0,300 . . 0/0:.,.,.,.,.,-915.206:388:359:.,22:.,604:11434:359,22 0/0:.,.,.,.,.,-705.26:307:285:.,16:.,420:8802:285,16 chr18 3075502 . ACGA ACAAAGA 5123.79 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=255;CIGAR=2M3I2M;DP=316;DPB=521.25;DPRA=0;EPP=26.9306;EPPR=5.18177;GTI=0;LEN=3;MEANALT=17;MQM=39.3725;MQMR=40;NS=1;NUMALT=1;ODDS=261.001;PAIRED=0.976471;PAIREDR=1;PAO=4;PQA=89.5;PQR=89.5;PRO=4;QA=6021;QR=30;RO=1;RPL=88;RPP=56.156;RPPR=5.18177;RPR=167;RUN=1;SAF=157;SAP=32.653;SAR=98;SF=1;SRF=1;SRP=5.18177;SRR=0;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;1000g2015aug_all=0.992612;avsnp147=rs10667835;Kaviar_AF=0.0978771;Kaviar_AC=15132;Kaviar_AN=154602;ExAC_ALL=0.9961;ExAC_AFR=0.9993;ExAC_AMR=0.9976;ExAC_EAS=1;ExAC_FIN=0.9930;ExAC_NFE=0.9942;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9956;gnomAD_exome_AFR=0.9993;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=0.9987;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9922;gnomAD_exome_NFE=0.9933;gnomAD_exome_OTH=0.9953;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9949;gnomAD_genome_AFR=0.9987;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9920;gnomAD_genome_NFE=0.9926;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-526.141,-82.2266,0:316:1:255:6021:30:1,255 . . . . . . . . . . chr18 3075503 . CGA CAAAGA 11355.43 . AB=0;ABP=0;AC=224;AF=1;AN=224;AO=705;CIGAR=1M3I1M;DP=73486;DPB=1945;DPRA=0;EPP=150.735;EPPR=9.52472;GTI=0;LEN=3;MEANALT=21;MQM=38.956;MQMR=29.3333;NS=1;NUMALT=1;ODDS=987.98;PAIRED=0.991489;PAIREDR=1;PAO=10;PQA=64;PQR=64;PRO=10;QA=16389;QR=51;RO=3;RPL=343;RPP=4.12222;RPPR=3.73412;RPR=362;RUN=1;SAF=310;SAP=25.264;SAR=395;SF=0,1;SRF=1;SRP=3.73412;SRR=2;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;1000g2015aug_all=0.992612;avsnp147=rs10667835;Kaviar_AF=0.0978771;Kaviar_AC=15132;Kaviar_AN=154602;ExAC_ALL=0.9961;ExAC_AFR=0.9993;ExAC_AMR=0.9976;ExAC_EAS=1;ExAC_FIN=0.9930;ExAC_NFE=0.9942;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9956;gnomAD_exome_AFR=0.9993;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=0.9987;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9922;gnomAD_exome_NFE=0.9933;gnomAD_exome_OTH=0.9953;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9949;gnomAD_genome_AFR=0.9987;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9920;gnomAD_genome_NFE=0.9926;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:822:3:705:16389:51 1/1:.,.,0:870:1:756:17720:14 1/1:.,.,0:866:1:740:17873:17 1/1:.,.,0:538:1:462:10512:23 1/1:.,.,0:685:0:574:13342:0 1/1:.,.,0:784:1:691:16470:23 1/1:.,.,0:730:0:639:14958:0 1/1:.,.,0:673:1:595:14260:14 1/1:.,.,0:609:2:548:13007:28 1/1:.,.,0:810:3:676:15702:54 1/1:.,.,0:715:1:622:14950:23 1/1:.,.,0:720:2:623:14344:39 1/1:.,.,0:719:1:630:14649:20 1/1:.,.,0:607:2:513:11900:37 1/1:.,.,0:629:3:535:12677:71 1/1:.,.,0:886:1:781:18662:23 1/1:.,.,0:654:0:542:12783:0 1/1:.,.,0:1181:5:1033:24734:89 1/1:.,.,0:732:0:629:14830:0 1/1:.,.,0:565:2:502:11560:41 1/1:.,.,0:604:2:525:11801:37 1/1:.,.,0:791:2:693:16334:37 1/1:.,.,0:482:0:422:9625:0 1/1:.,.,0:796:4:679:16540:79 1/1:.,.,0:763:0:666:15909:0 1/1:.,.,0:590:1:515:11704:17 1/1:.,.,0:637:1:564:13465:25 1/1:.,.,0:693:1:594:13939:25 1/1:.,.,0:550:2:471:10792:37 1/1:.,.,0:513:2:447:10799:28 1/1:.,.,0:715:1:623:14366:20 1/1:.,.,0:968:1:824:19152:14 1/1:.,.,0:868:4:774:18060:74 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0/1:-1148.06,0,-1366.48:1317:683:629:18507:20522 0/1:-1075.76,0,-1417.64:1319:689:619:17598:20975 0/1:-1029.43,0,-1039.8:1128:545:571:16465:16335 0/1:-733.684,0,-1133.35:991:565:417:12279:17083 1/1:-2304.45,-260.953,0:944:9:929:27554:241 0/1:-818.957,0,-882.355:891:447:438:12976:13458 0/1:-1161.47,0,-1175.02:1235:604:612:18013:18171 0/1:-535.371,0,-646.751:607:311:290:8385:9589 1/1:-2687.07,-294.8,0:1148:28:1108:32453:566 1/1:-3874.99,-405.77,0:1623:37:1570:47055:935 0/1:-904.345,0,-959.204:980:483:486:14189:14657 . . 0/1:-1141.74,0,-1092.92:1174:559:599:17790:16941 . 1/1:-2584.96,-260.618,0:981:14:964:30540:382:14,964 0/1:-1118.73,0,-1039.68:1029:497:528:16642:15470:497,528 0/1:-1401.48,0,-1330.48:1300:627:667:20770:19854:627,667 . 0/1:-795.236,0,-1023.91:868:476:391:12285:14913:476,391 . . 1/1:-2540.58,-226.092,0:987:28:956:30359:794:28,956 0/1:-1011.74,0,-1131.92:1016:527:485:15195:16540:527,485 0/1:-1049.31,0,-1101.72:1033:515:515:15954:16247:515,515 0/1:-1090.85,0,-1101.01:1049:526:517:16299:16365:526,517 0/1:-748.593,0,-875.088:774:404:364:11435:12724:404,364 0/1:-839.713,0,-1023.27:876:469:403:12758:14773:469,403 . 0/1:-1040.95,0,-1290.28:1110:598:507:15919:18698:598,507 0/1:-1083.67,0,-1178.26:1101:567:531:16372:17525:567,531 0/1:-1207.55,0,-1333.13:1193:614:577:18336:19564:614,577 0/1:-960.114,0,-950.852:937:461:472:14523:14258:461,472 . . chr18 3075746 . G A 14048.85 . AB=0.503263;ABP=3.12366;AC=46;AF=0.5;AN=82;AO=617;CIGAR=1X;DP=56689;DPB=1226;DPRA=0;EPP=120.872;EPPR=41.5341;GTI=0;LEN=1;MEANALT=3;MQM=37.3225;MQMR=39.2452;NS=1;NUMALT=1;ODDS=2506.58;PAIRED=0.982172;PAIREDR=0.97913;PAO=0;PQA=0;PQR=0;PRO=0;QA=17673;QR=17201;RO=575;RPL=276;RPP=17.8798;RPPR=17.9991;RPR=341;RUN=1;SAF=295;SAP=5.57595;SAR=322;SF=0,1;SRF=289;SRP=3.04429;SRR=286;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon34:c.C4374T:p.A1458A,MYOM1:NM_003803:exon35:c.C4662T:p.A1554A;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.1604;esp6500siv2_ea=0.1697;esp6500siv2_all=0.1604;esp6500siv2_ea=0.1697;1000g2015aug_all=0.183506;avsnp147=rs1143657;Kaviar_AF=0.157812;Kaviar_AC=24398;Kaviar_AN=154602;ExAC_ALL=0.2142;ExAC_AFR=0.1829;ExAC_AMR=0.1915;ExAC_EAS=0.2072;ExAC_FIN=0.3389;ExAC_NFE=0.2178;ExAC_OTH=0.2314;ExAC_SAS=0.1821;CLNALLELEID=230812;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.5050;dpsi_zscore=-2.044;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1782;gnomAD_exome_AFR=0.1496;gnomAD_exome_AMR=0.1452;gnomAD_exome_ASJ=0.2153;gnomAD_exome_EAS=0.1601;gnomAD_exome_FIN=0.3193;gnomAD_exome_NFE=0.1666;gnomAD_exome_OTH=0.1816;gnomAD_exome_SAS=0.1607;gnomAD_genome_ALL=0.1986;gnomAD_genome_AFR=0.1507;gnomAD_genome_AMR=0.1647;gnomAD_genome_ASJ=0.2318;gnomAD_genome_EAS=0.1765;gnomAD_genome_FIN=0.3359;gnomAD_genome_NFE=0.1958;gnomAD_genome_OTH=0.2336;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1110.02,0,-1102.58:1226:575:617:17673:17201 . . . 0/1:-1165.13,0,-1197.1:1333:632:649:18452:18684 . 0/1:-1208.13,0,-1195.76:1309:622:662:18834:18428 . . . 0/1:-1243.65,0,-1146.83:1344:624:686:19524:18361 . 1/1:-2772.52,-291.145,0:1211:26:1150:33523:722 . . . . . . . . 0/1:-1285.64,0,-1498.21:1506:750:707:20528:22583 . . . . 0/1:-1144.77,0,-1518.39:1446:755:657:18589:22433 . 0/1:-951.817,0,-894.003:1092:499:545:15397:14352 . 0/1:-1039.68,0,-1199.67:1235:617:590:16665:18212 0/1:-1635.02,0,-1830.68:1887:926:912:26026:27834 . . . 0/1:-1295.85,0,-1602.41:1636:847:743:21032:24484 . . . . 0/1:-1478.52,0,-1643.81:1692:845:809:23368:25067 . . . . . . 0/1:-687.55,0,-673.302:759:357:384:10793:10519 . 0/1:-1654.04,0,-1412.67:1707:772:894:25632:22554 0/1:-1269.82,0,-1541.73:1555:789:710:20439:23280 0/1:-1038.69,0,-1157.86:1265:615:609:16950:17955 . 0/1:-1306.2,0,-1416.75:1529:747:728:20890:21906 0/1:-1037.83,0,-895.732:1130:500:587:16439:14469 . . . 0/1:-847.297,0,-929.164:989:475:482:13561:14420 1/1:-2697.24,-264.019,0:1213:34:1154:32927:1072 . 0/1:-1435.37,0,-1902.79:1839:966:817:23607:28495 . 1/1:-2163.85,-235.674,0:994:23:945:26637:671 . . . . . 0/1:-1171.01,0,-1433.15:1429:720:658:18998:21376 . . 0/1:-1393.08,0,-1665.34:1646:854:760:22118:25048 . . 0/1:-1264.77,0,-1575.95:1519:789:695:20304:23510 . 0/1:-1489.51,0,-1655.27:1721:840:839:23658:25113 0/1:-865.259,0,-869.716:957:458:478:13677:13528 . 0/1:-1454.22,0,-1489.27:1614:782:793:22890:23038 0/1:-1329.87,0,-1622.14:1616:812:761:21734:24359 0/1:-1214.56,0,-1732.39:1645:876:711:20168:25589 0/1:-1073.83,0,-1234.55:1303:647:622:17580:19019 . . . . . 0/1:-1083.77,0,-1401.11:1399:715:630:17848:21177 1/1:-4392.14,-481.95,0:1932:36:1854:53324:1027 0/1:-1123.86,0,-1166.87:1236:595:608:17680:17798 . . 0/1:-1300.58,0,-1325.15:1483:694:735:20758:20452 . 1/1:-2977.74,-301.693,0:1160:16:1125:35133:472:16,1125 0/1:-1172.16,0,-1323.99:1235:629:582:18031:19332:629,582 . . . . . 0/1:-1189.12,0,-1166.99:1173:569:582:17905:17469:569,582 . 0/1:-1175.33,0,-1374.21:1248:640:589:18162:19997:640,589 . . . . . . 0/1:-1386.52,0,-1521.25:1411:717:670:21095:22542:717,670 0/1:-1058.13,0,-1135.68:1065:540:513:16000:16795:540,513 . . chr18 3075778 . A C 14370.41 . AB=0.498008;ABP=3.05356;AC=46;AF=0.5;AN=82;AO=625;CIGAR=1X;DP=59653;DPB=1255;DPRA=0;EPP=435.946;EPPR=270.671;GTI=0;LEN=1;MEANALT=3;MQM=37.5456;MQMR=39.3786;NS=1;NUMALT=1;ODDS=2332.95;PAIRED=0.9856;PAIREDR=0.962783;PAO=0;PQA=0;PQR=0;PRO=0;QA=17344;QR=18328;RO=618;RPL=251;RPP=55.5738;RPPR=58.794;RPR=374;RUN=1;SAF=261;SAP=39.8697;SAR=364;SF=0,1;SRF=291;SRP=7.56407;SRR=327;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.1532;esp6500siv2_ea=0.1614;esp6500siv2_all=0.1532;esp6500siv2_ea=0.1614;1000g2015aug_all=0.183506;avsnp147=rs2298537;Kaviar_AF=0.132586;Kaviar_AC=20498;Kaviar_AN=154602;ExAC_ALL=0.2019;ExAC_AFR=0.1764;ExAC_AMR=0.1643;ExAC_EAS=0.1985;ExAC_FIN=0.3267;ExAC_NFE=0.2071;ExAC_OTH=0.2291;ExAC_SAS=0.1713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5299;dpsi_zscore=-1.120;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1819;gnomAD_exome_AFR=0.1545;gnomAD_exome_AMR=0.1485;gnomAD_exome_ASJ=0.2153;gnomAD_exome_EAS=0.1612;gnomAD_exome_FIN=0.3235;gnomAD_exome_NFE=0.1681;gnomAD_exome_OTH=0.1832;gnomAD_exome_SAS=0.1634;gnomAD_genome_ALL=0.1995;gnomAD_genome_AFR=0.1537;gnomAD_genome_AMR=0.1647;gnomAD_genome_ASJ=0.2318;gnomAD_genome_EAS=0.1763;gnomAD_genome_FIN=0.3357;gnomAD_genome_NFE=0.1960;gnomAD_genome_OTH=0.2332;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1075.48,0,-1184.26:1255:618:625:17344:18328 . . . 0/1:-1223.11,0,-1316.97:1429:711:707:19612:20411 . 0/1:-1209.48,0,-1427.09:1421:715:682:19314:21594 . . . 0/1:-1285.12,0,-1255.48:1397:656:722:20135:19827 . 1/1:-2835.73,-275.576,0:1293:50:1225:34675:1295 . . . . . . . . 0/1:-1477.79,0,-1519.52:1590:770:806:23076:23219 . . . . 0/1:-1192.05,0,-1562.51:1463:763:684:19065:23173 . 0/1:-1049.67,0,-1001.1:1176:545:615:16841:16117 . 0/1:-1075.08,0,-1391.57:1347:695:636:17322:20810 0/1:-1671.07,0,-1854.2:1901:938:945:26584:28354 . . . 0/1:-1421.89,0,-1685.34:1710:874:819:22869:26105 . . . . 0/1:-1538.21,0,-1851.49:1799:920:863:24546:27869 . . . . . . 0/1:-748.651,0,-686.386:820:374:432:11695:10895 . 0/1:-1686.35,0,-1619.94:1794:842:934:26295:25182 0/1:-1320.41,0,-1571.03:1579:804:757:21379:23970 0/1:-1068.63,0,-1239.89:1325:665:641:17397:19423 . 0/1:-1384.79,0,-1452.26:1595:781:795:22130:22609 0/1:-1058.09,0,-1033.74:1200:562:621:16954:16412 . . . 0/1:-836.224,0,-983.579:1005:507:484:13509:15253 1/1:-2908.02,-287.353,0:1315:48:1260:35438:1222 . 0/1:-1514.6,0,-2106.25:1944:1045:883:24864:31440 . 1/1:-2194.25,-224.446,0:1050:53:979:27123:1082 . . . . . 0/1:-1286.88,0,-1543.92:1587:798:757:20941:23399 . . 0/1:-1453.1,0,-1780.32:1722:892:814:23144:26750 . . 0/1:-1289.4,0,-1681.55:1603:836:752:20885:25199 . 0/1:-1589.37,0,-1905.1:1880:962:898:25315:28705 0/1:-946.969,0,-954.738:1035:492:531:14935:14723 . 0/1:-1514.46,0,-1496.06:1675:799:853:23789:23369 0/1:-1493.06,0,-1645.89:1720:844:854:23883:25013 0/1:-1285.6,0,-1924.06:1768:968:779:21407:28566 0/1:-1078.3,0,-1351.22:1320:681:624:17549:20385 . . . . . 0/1:-1104.67,0,-1553.19:1454:791:647:18161:23189 1/1:-4551.04,-474.461,0:2077:77:1975:55630:1734 0/1:-1174.69,0,-1174.17:1279:605:657:18296:18038 . . 0/1:-1401.5,0,-1496.69:1603:772:816:22423:23035 . 1/1:-3050.6,-299.164,0:1220:35:1181:36148:761:35,1181 0/1:-1160.1,0,-1419.69:1250:653:588:17979:20639:653,588 . . . . . 0/1:-1255.68,0,-1241.65:1232:603:621:18916:18589:603,621 . 0/1:-1162.55,0,-1412.02:1252:655:588:17927:20651:655,588 . . . . . . 0/1:-1426.88,0,-1574.92:1447:739:701:21678:23352:739,701 0/1:-1113.25,0,-1206.78:1121:573:539:16777:17870:573,539 . . chr18 3083922 . A C 11955.82 . AB=0.503714;ABP=3.26838;AC=4;AF=0.5;AN=8;AO=1085;CIGAR=1X;DP=5213;DPB=2154;DPRA=0;EPP=60.1711;EPPR=3.04314;GTI=0;LEN=1;MEANALT=3;MQM=38.7161;MQMR=39.3204;NS=1;NUMALT=1;ODDS=4786.54;PAIRED=0.930876;PAIREDR=0.913989;PAO=0;PQA=0;PQR=0;PRO=0;QA=32525;QR=33353;RO=1058;RPL=611;RPP=40.5738;RPPR=10.3991;RPR=474;RUN=1;SAF=446;SAP=77.5588;SAR=639;SF=0;SRF=454;SRP=49.19;SRR=604;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0044;1000g2015aug_all=0.00279553;avsnp147=rs141235627;Kaviar_AF=0.0026649;Kaviar_AC=412;Kaviar_AN=154602;ExAC_ALL=0.0058;ExAC_AFR=0.0013;ExAC_AMR=0.0150;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0089;ExAC_OTH=0.0088;ExAC_SAS=0.0035;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8359;dpsi_zscore=-1.369;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0193;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0036;gnomAD_exome_OTH=0.0061;gnomAD_exome_SAS=0.0030;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-2104.44,0,-2176.55:2154:1058:1085:32525:33353 . 0/1:-882.655,0,-910.952:904:446:452:13671:14022 . . . . . . 0/1:-1030.84,0,-1225.73:1149:587:549:16577:18590 . . . . . . 0/1:-835.05,0,-1120.19:1006:535:466:13845:16942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3086065 . C T 5874.39 . AB=0.491429;ABP=3.56868;AC=6;AF=0.5;AN=12;AO=430;CIGAR=1X;DP=3682;DPB=875;DPRA=0;EPP=4.30308;EPPR=76.7749;GTI=0;LEN=1;MEANALT=2;MQM=39.5791;MQMR=39.7726;NS=1;NUMALT=1;ODDS=1987.36;PAIRED=0.948837;PAIREDR=0.921114;PAO=0;PQA=0;PQR=0;PRO=0;QA=13243;QR=13661;RO=431;RPL=186;RPP=19.9983;RPPR=52.3899;RPR=244;RUN=1;SAF=233;SAP=9.55502;SAR=197;SF=0,1;SRF=274;SRP=71.9785;SRR=157;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon29:c.G3934A:p.D1312N,MYOM1:NM_003803:exon30:c.G4222A:p.D1408N;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0543;esp6500siv2_ea=0.0716;esp6500siv2_all=0.0543;esp6500siv2_ea=0.0716;1000g2015aug_all=0.0521166;avsnp147=rs3765623;Kaviar_AF=0.0722306;Kaviar_AC=11167;Kaviar_AN=154602;ExAC_ALL=0.0729;ExAC_AFR=0.0134;ExAC_AMR=0.0799;ExAC_EAS=0.0470;ExAC_FIN=0.0708;ExAC_NFE=0.0783;ExAC_OTH=0.0472;ExAC_SAS=0.0973;CLNALLELEID=230818;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.145;SIFT_pred=T;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.809;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=-0.28;FATHMM_pred=T;PROVEAN_score=-1.2;PROVEAN_pred=N;VEST3_score=0.101;CADD_raw=5.971;CADD_phred=27.7;DANN_score=0.999;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.880;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.56;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.535;GDI_full_10282015=.;dpsi_max_tissue=0.0366;dpsi_zscore=0.233;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0711;gnomAD_exome_AFR=0.0121;gnomAD_exome_AMR=0.0780;gnomAD_exome_ASJ=0.0239;gnomAD_exome_EAS=0.0461;gnomAD_exome_FIN=0.0704;gnomAD_exome_NFE=0.0792;gnomAD_exome_OTH=0.0609;gnomAD_exome_SAS=0.0951;gnomAD_genome_ALL=0.0576;gnomAD_genome_AFR=0.0145;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0562;gnomAD_genome_FIN=0.0659;gnomAD_genome_NFE=0.0798;gnomAD_genome_OTH=0.0692;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-873.392,0,-911.97:875:431:430:13243:13661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-760.166,0,-873.414:792:404:373:11629:12841 . . . . . . . . . . . . . . . . . . . . . 0/1:-635.942,0,-600.816:609:285:309:9482:9139 . . . . . . . . 0/1:-728.387,0,-822.678:758:390:354:11155:12238 . . . . . . . . . . . . . . . . . . . . 0/1:-398.34,0,-397.845:391:195:188:5939:5979 . . . . . . . . . . . . . . . . . . . . . 0/1:-253.528,0,-297.16:257:135:118:3784:4280:135,118 . . . . . chr18 3089123 . CTATTTTATTTC CTATTTC 2751.38 . AB=0.40873;ABP=57.7107;AC=6;AF=0.5;AN=12;AO=309;CIGAR=1M5D6M;DP=3217;DPB=648.5;DPRA=0;EPP=18.5339;EPPR=29.1484;GTI=0;LEN=5;MEANALT=48;MQM=36.5178;MQMR=40.3105;NS=1;NUMALT=1;ODDS=856.277;PAIRED=0.967638;PAIREDR=0.940171;PAO=25;PQA=608.5;PQR=687.5;PRO=29;QA=6729;QR=10838;RO=351;RPL=202;RPP=66.4328;RPPR=35.9783;RPR=107;RUN=1;SAF=169;SAP=8.92036;SAR=140;SF=0,1;SRF=211;SRP=34.1966;SRR=140;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0724;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0724;1000g2015aug_all=0.0696885;avsnp147=rs5822736;Kaviar_AF=0.0022574;Kaviar_AC=349;Kaviar_AN=154602;ExAC_ALL=0.0825;ExAC_AFR=0.0802;ExAC_AMR=0.0892;ExAC_EAS=0.0501;ExAC_FIN=0.0723;ExAC_NFE=0.0829;ExAC_OTH=0.0510;ExAC_SAS=0.1002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0783;gnomAD_exome_AFR=0.0793;gnomAD_exome_AMR=0.0853;gnomAD_exome_ASJ=0.0256;gnomAD_exome_EAS=0.0482;gnomAD_exome_FIN=0.0722;gnomAD_exome_NFE=0.0823;gnomAD_exome_OTH=0.0679;gnomAD_exome_SAS=0.0981;gnomAD_genome_ALL=0.0750;gnomAD_genome_AFR=0.0758;gnomAD_genome_AMR=0.0767;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0562;gnomAD_genome_FIN=0.0662;gnomAD_genome_NFE=0.0798;gnomAD_genome_OTH=0.0713;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-388.562,0,-746.981:756:351:309:6729:10838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-239.955,0,-600.148:542:272:211:4381:8467 . . . . . . . . . . . . . . . . . . . . . 0/1:-269.842,0,-499.663:500:234:217:4690:7204 . . . . . . . . 0/1:-333.497,0,-602.61:642:278:265:5713:8593 . . . . . . . . . . . . . . . . . . . . 0/1:-249.416,0,-327.492:382:163:186:4094:4976 . . . . . . . . . . . . . . . . . . . . . 0/1:-258.146,0,-340.778:395:163:193:4219:5141:163,193 . . . . . chr18 3089521 . CG CT 11416.05 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=508;CIGAR=1M1X;DP=935;DPB=535;DPRA=0;EPP=150.893;EPPR=3.0103;GTI=0;LEN=1;MEANALT=5;MQM=40.2421;MQMR=41.5;NS=1;NUMALT=1;ODDS=677.991;PAIRED=0.929134;PAIREDR=0.75;PAO=1;PQA=32;PQR=32;PRO=1;QA=15246;QR=100;RO=4;RPL=197;RPP=58.5624;RPPR=3.0103;RPR=311;RUN=1;SAF=262;SAP=4.10459;SAR=246;SF=1;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1306.94,-146.494,0:534:4:508:15246:100:4,508 1/1:-1020.45,-115.258,0:401:2:388:11688:48:2,388 . . . . . . . . . . . . . chr18 3089522 . G T 10677.56 . AB=0;ABP=0;AC=192;AF=1;AN=224;AO=590;CIGAR=1X;DP=63032;DPB=601;DPRA=0;EPP=240.459;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=40.5407;MQMR=37.25;NS=1;NUMALT=1;ODDS=794.868;PAIRED=0.994915;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=15439;QR=94;RO=4;RPL=230;RPP=65.2101;RPPR=11.6962;RPR=360;RUN=1;SAF=276;SAP=8.32489;SAR=314;SF=0,1;SRF=0;SRP=11.6962;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.8073;esp6500siv2_ea=0.7970;esp6500siv2_all=0.8073;esp6500siv2_ea=0.7970;1000g2015aug_all=0.800319;avsnp147=rs948298;Kaviar_AF=0.0032535;Kaviar_AC=503;Kaviar_AN=154602;ExAC_ALL=0.8092;ExAC_AFR=0.8326;ExAC_AMR=0.9135;ExAC_EAS=0.7246;ExAC_FIN=0.8406;ExAC_NFE=0.8049;ExAC_OTH=0.8539;ExAC_SAS=0.7684;CLNALLELEID=230819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7982;dpsi_zscore=-1.343;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8126;gnomAD_exome_AFR=0.8344;gnomAD_exome_AMR=0.9086;gnomAD_exome_ASJ=0.8367;gnomAD_exome_EAS=0.7191;gnomAD_exome_FIN=0.8353;gnomAD_exome_NFE=0.7995;gnomAD_exome_OTH=0.8214;gnomAD_exome_SAS=0.7710;gnomAD_genome_ALL=0.8205;gnomAD_genome_AFR=0.8310;gnomAD_genome_AMR=0.9081;gnomAD_genome_ASJ=0.8576;gnomAD_genome_EAS=0.7138;gnomAD_genome_FIN=0.8342;gnomAD_genome_NFE=0.8176;gnomAD_genome_OTH=0.8126;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1347.13,-171.192,0:601:4:590:15439:94 0/1:-654.811,0,-587.238:699:331:362:9852:9094 0/1:-705.25,0,-633.535:749:354:389:10576:9774 1/1:-1022.68,-123.023,0:438:3:431:11712:99 1/1:-1297.03,-159.839,0:578:8:564:15046:154 1/1:-1393.52,-171.997,0:590:3:583:15960:77 1/1:-1395.88,-172.424,0:591:5:584:16069:77 1/1:-1337.36,-164.232,0:569:3:559:15368:55 0/1:-482.894,0,-453.32:526:244:279:7311:6961 1/1:-1690.26,-206.042,0:699:1:693:19359:32 1/1:-1287.9,-160.553,0:551:2:540:14723:48 1/1:-1458.62,-182.819,0:637:3:622:16781:60 1/1:-1277.73,-156.026,0:539:3:530:14699:55 0/1:-480.094,0,-419.574:535:242:283:7294:6686 1/1:-1381.59,-174.493,0:594:2:589:15870:50 1/1:-1735.45,-216.067,0:738:2:728:19848:41 1/1:-1238.25,-145.566,0:534:8:518:14418:150 1/1:-2280.14,-274.593,0:955:7:942:26346:124 1/1:-1584.68,-184.971,0:680:9:661:18382:221 1/1:-994.788,-124.908,0:423:1:418:11416:14 1/1:-1117.07,-135.412,0:491:6:478:12913:115 1/1:-1739.35,-214.823,0:746:5:733:20012:84 0/1:-412.583,0,-306.554:426:185:238:6137:5004 1/1:-1376.67,-168.197,0:588:3:580:15856:82 0/1:-711.099,0,-522.011:720:308:407:10546:8479 0/1:-355.914,0,-420.055:451:232:216:5626:6463 1/1:-1221.53,-151.24,0:522:3:515:14014:71 0/1:-543.384,0,-650.063:688:357:324:8578:9750 0/1:-470.553,0,-281.385:438:176:259:6973:4673 1/1:-1045.02,-131.493,0:445:1:440:11974:14 1/1:-1200.37,-146.516,0:517:3:509:13877:86 1/1:-1728.39,-203.855,0:748:8:731:20079:214 0/1:-521.435,0,-450.325:569:265:299:7871:7073 1/1:-1376.48,-170.936,0:587:2:578:15821:41 1/1:-1523.39,-188.809,0:657:3:647:17568:77 1/1:-1459.95,-178.161,0:605:2:596:16828:28 1/1:-1249.45,-155.577,0:525:1:520:14344:14 0/1:-590.612,0,-662.394:754:369:371:9351:10090 0/1:-568.928,0,-510.593:611:290:317:8681:7928 1/1:-827.231,-103.826,0:351:1:346:9551:14 0/1:-740.932,0,-505.836:714:308:397:10816:8380 . 1/1:-1329.48,-167.366,0:564:1:559:15352:14 0/1:-491.873,0,-573.489:623:320:299:7747:8734 0/1:-823.397,0,-765.175:898:432:463:12460:11782 1/1:-1302.93,-164.614,0:556:1:550:14819:14 1/1:-1283.79,-160.481,0:557:3:545:14744:55 0/1:-321,0,-297.561:343:170:170:4859:4532 0/1:-570.452,0,-474.146:616:270:340:8682:7484 1/1:-1603.08,-194.698,0:683:4:675:18551:109 1/1:-1086.98,-127.731,0:474:5:465:12561:163 1/1:-1492.07,-188.453,0:659:4:649:17412:90 1/1:-1621.24,-205.419,0:699:3:692:18556:42 0/1:-604.679,0,-451.556:597:265:323:8967:7189 1/1:-1137.26,-140.068,0:483:2:477:13053:46 1/1:-1030.97,-130.591,0:440:1:437:11795:14 1/1:-1512.93,-189.228,0:664:4:653:17409:96 1/1:-909.349,-115.374,0:404:4:396:10524:56 1/1:-1172.82,-145.69,0:519:4:505:13652:85 1/1:-1083.07,-130.485,0:453:1:443:12399:36 0/1:-478.754,0,-289.845:456:187:267:7079:4945 1/1:-1635.38,-197.641,0:703:5:685:18825:114 1/1:-999.054,-123.687,0:419:1:412:11413:14 1/1:-1074.98,-136.806,0:469:1:463:12384:32 1/1:-1724.71,-218.296,0:757:5:741:20061:70 0/1:-550.41,0,-502.64:585:281:300:8370:7755 1/1:-1268.97,-168.414,0:582:3:571:14721:49 1/1:-1750.04,-213.656,0:733:2:720:20114:41 0/1:-398.088,0,-302.399:401:172:224:5937:4794 1/1:-1223.56,-141.985,0:540:8:520:14232:191 0/1:-398.103,0,-302.485:411:175:229:5928:4832 1/1:-1618.44,-197.139,0:675:3:669:18633:77 1/1:-1689.71,-211.283,0:730:4:715:19488:69 1/1:-854.176,-112.527,0:384:1:377:9877:14 0/1:-539.841,0,-453.16:587:265:315:8144:7207 1/1:-1563.11,-197.234,0:677:4:666:18109:74 0/1:-563.146,0,-561.016:646:318:323:8679:8609 1/1:-1710.65,-199.051,0:726:8:711:19733:194 1/1:-1023.43,-132.152,0:440:0:439:11672:0 0/1:-364.099,0,-450.816:481:248:230:5786:6847 1/1:-1389.63,-176.157,0:602:4:594:15934:85 1/1:-1499.38,-190.251,0:644:0:632:17156:0 1/1:-1276.75,-156.415,0:551:5:539:14636:95 1/1:-1534.13,-176.909,0:667:9:648:17726:233 1/1:-1147.07,-147.344,0:518:4:504:13194:63 0/1:-447.732,0,-433.971:501:242:256:6852:6700 0/1:-508.984,0,-420.261:521:235:283:7705:6635 1/1:-1565.34,-196.966,0:684:5:674:18010:83 1/1:-963.982,-123.388,0:419:1:411:11118:14 1/1:-1582.7,-195.789,0:699:6:684:18297:135 1/1:-2227.1,-277.139,0:943:2:927:25585:28 0/1:-447.765,0,-410.222:498:238:252:6835:6449 1/1:-1856.72,-231.742,0:818:7:804:21358:147 1/1:-1291.36,-165.21,0:556:1:552:14734:14 1/1:-1565.14,-192.638,0:675:6:666:18071:109 . 1/1:-780.676,-88.2018,0:294:0:293:8997:0:0,293 1/1:-1050.29,-122.18,0:415:2:413:12204:48:2,413 0/1:-518.902,0,-599.378:557:300:255:7801:8816:300,255 1/1:-640.07,-70.0963,0:246:2:239:7360:28:2,239 1/1:-1125.61,-127.609,0:435:1:431:12966:27:1,431 . . 1/1:-1209.66,-134.316,0:465:2:462:13930:59:2,462 0/1:-448.338,0,-523.925:494:257:235:6878:7694:257,235 1/1:-940.137,-106.037,0:365:2:361:10833:41:2,361 0/1:-527.406,0,-423.095:476:214:261:7777:6412:214,261 1/1:-941.803,-103.622,0:363:2:357:10966:50:2,357 1/1:-1096.12,-125.53,0:420:0:417:12635:0:0,417 1/1:-1165.03,-133.296,0:455:2:449:13373:28:2,449 1/1:-1051.1,-124.024,0:418:0:412:12160:0:0,412 0/1:-500.605,0,-446.252:484:227:252:7416:6742:227,252 1/1:-1458.39,-150.597,0:577:10:562:16932:264:10,562 1/1:-1122.11,-122.132,0:443:6:432:13046:133:6,432 1/1:-1249.69,-145.096,0:487:0:482:14370:0:0,482 1/1:-839.787,-96.9623,0:329:2:325:9706:28:2,325 chr18 3089559 . G A 9359.41 . AB=0.465636;ABP=14.9497;AC=1;AF=0.5;AN=2;AO=542;CIGAR=1X;DP=1164;DPB=1164;DPRA=0;EPP=455.318;EPPR=406.93;GTI=0;LEN=1;MEANALT=3;MQM=40.2841;MQMR=40.4958;NS=1;NUMALT=1;ODDS=2155.08;PAIRED=0.99262;PAIREDR=0.977929;PAO=0;PQA=0;PQR=0;PRO=0;QA=15447;QR=16093;RO=589;RPL=198;RPP=88.4109;RPPR=160.982;RPR=344;RUN=1;SAF=231;SAP=28.6513;SAR=311;SF=0;SRF=228;SRP=68.2245;SRR=361;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon27:c.C3757T:p.R1253W,MYOM1:NM_003803:exon28:c.C4045T:p.R1349W;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762476268;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=7.809e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0007;ExAC_FIN=0;ExAC_NFE=1.575e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=468819;CLNDN=Hypertrophic_cardiomyopathy;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.6;MutationAssessor_pred=M;FATHMM_score=0.8;FATHMM_pred=T;PROVEAN_score=-6.66;PROVEAN_pred=D;VEST3_score=0.792;CADD_raw=5.515;CADD_phred=26.3;DANN_score=0.999;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.284;MetaSVM_pred=T;MetaLR_score=0.312;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.191;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.889;GDI_full_10282015=.;dpsi_max_tissue=-1.2630;dpsi_zscore=-1.610;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.342e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.02e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.804e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.314e-05;gnomAD_genome_ALL=6.457e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1004.17,0,-1061.08:1164:589:542:15447:16093 . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3090761 . C T 7786.58 . AB=0.445186;ABP=30.3866;AC=1;AF=0.5;AN=2;AO=467;CIGAR=1X;DP=1049;DPB=1049;DPRA=0;EPP=151.996;EPPR=97.7441;GTI=0;LEN=1;MEANALT=3;MQM=38.4283;MQMR=39.7646;NS=1;NUMALT=1;ODDS=1792.93;PAIRED=0.978587;PAIREDR=0.978761;PAO=0;PQA=0;PQR=0;PRO=0;QA=13183;QR=17077;RO=565;RPL=222;RPP=5.47006;RPPR=3.32161;RPR=245;RUN=1;SAF=268;SAP=25.1482;SAR=199;SF=0;SRF=333;SRP=42.2159;SRR=232;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon26:c.G3616A:p.E1206K,MYOM1:NM_003803:exon27:c.G3904A:p.E1302K;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=.;esp6500siv2_all=0.0004;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs370699565;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0009;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=532187;CLNDN=Hypertrophic_cardiomyopathy;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.061;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.585;MutationAssessor_pred=M;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-3.51;PROVEAN_pred=D;VEST3_score=0.94;CADD_raw=6.701;CADD_phred=32;DANN_score=0.999;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.106;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.329;GDI_full_10282015=.;dpsi_max_tissue=-1.3566;dpsi_zscore=-1.654;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-806.298,0,-1156.3:1049:565:467:13183:17077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3100429 . G A 16186.94 . AB=0.465414;ABP=15.1769;AC=111;AF=0.5;AN=176;AO=545;CIGAR=1X;DP=108863;DPB=1171;DPRA=0;EPP=24.2429;EPPR=70.3988;GTI=0;LEN=1;MEANALT=3;MQM=38.5927;MQMR=39.5302;NS=1;NUMALT=1;ODDS=2362.86;PAIRED=0.981651;PAIREDR=0.973154;PAO=0;PQA=0;PQR=0;PRO=0;QA=16393;QR=17388;RO=596;RPL=287;RPP=6.36114;RPPR=3.24348;RPR=258;RUN=1;SAF=201;SAP=84.4863;SAR=344;SF=0,1;SRF=220;SRP=91.6763;SRR=376;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.3670;esp6500siv2_ea=0.4470;esp6500siv2_all=0.3670;esp6500siv2_ea=0.4470;1000g2015aug_all=0.348043;avsnp147=rs7232329;Kaviar_AF=0.407026;Kaviar_AC=62927;Kaviar_AN=154602;ExAC_ALL=0.4422;ExAC_AFR=0.2055;ExAC_AMR=0.6156;ExAC_EAS=0.3853;ExAC_FIN=0.3915;ExAC_NFE=0.4710;ExAC_OTH=0.4844;ExAC_SAS=0.3913;CLNALLELEID=230821;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1061;dpsi_zscore=-0.468;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4264;gnomAD_exome_AFR=0.1867;gnomAD_exome_AMR=0.5790;gnomAD_exome_ASJ=0.4659;gnomAD_exome_EAS=0.3600;gnomAD_exome_FIN=0.3554;gnomAD_exome_NFE=0.4467;gnomAD_exome_OTH=0.4542;gnomAD_exome_SAS=0.3764;gnomAD_genome_ALL=0.3547;gnomAD_genome_AFR=0.1817;gnomAD_genome_AMR=0.5815;gnomAD_genome_ASJ=0.5067;gnomAD_genome_EAS=0.3491;gnomAD_genome_FIN=0.3473;gnomAD_genome_NFE=0.4390;gnomAD_genome_OTH=0.3980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1044.69,0,-1148.29:1171:596:545:16393:17388 . 0/1:-1189.92,0,-1121.43:1218:579:612:18322:17330 1/1:-2162.21,-238.427,0:872:8:854:25640:258 . . . 1/1:-3726.65,-400.081,0:1538:23:1502:44671:681 . 0/1:-1353.4,0,-1356.22:1466:718:705:20968:20943 . 1/1:-3021.59,-356.896,0:1252:7:1234:36379:189 . 0/1:-886.946,0,-1010.77:1099:551:501:14562:16086 1/1:-2826.5,-326.565,0:1141:6:1127:33720:184 0/1:-1762.37,0,-1934.48:1965:991:925:27660:29208 0/1:-928.266,0,-966.312:1065:527:510:14993:15098 1/1:-6038.6,-683.244,0:2450:20:2403:71773:534 0/1:-1351.12,0,-1144.11:1333:611:685:20396:18071 0/1:-910.657,0,-786.396:955:433:490:14358:12328 0/1:-868.246,0,-971.583:999:503:469:14001:14691 . 0/1:-694.82,0,-703.455:777:373:381:11076:11042 0/1:-1550.72,0,-1458.65:1610:772:796:23699:22487 0/1:-1215.74,0,-1252.87:1343:667:640:19277:19104 0/1:-927.709,0,-904.314:1035:508:503:14687:14470 0/1:-1323.56,0,-1225.61:1359:644:681:20330:19091 0/1:-1174.28,0,-1082.45:1232:591:616:18226:16872 . 1/1:-2538.73,-280.572,0:1025:9:1005:30201:279 0/1:-1037.94,0,-1029.03:1134:552:554:16156:16060 0/1:-1653.42,0,-1469.28:1666:782:828:25135:22831 . 1/1:-2633.97,-308.823,0:1123:12:1095:31851:286 0/1:-1156.05,0,-1278.78:1288:666:596:18241:19441 0/1:-1440.06,0,-1327.36:1494:707:758:22310:20712 0/1:-1183.98,0,-1382.19:1408:732:632:18669:21074 0/1:-1271.02,0,-1417.23:1416:725:657:19906:21463 0/1:-917.541,0,-1121.04:1125:590:510:14930:17153 0/1:-1000.81,0,-747.195:934:409:505:15242:11845 . . 1/1:-2875.52,-321.653,0:1177:13:1149:34488:331 0/1:-1305.94,0,-1167.42:1346:624:675:20059:18261 0/1:-1457.6,0,-1635.22:1643:832:772:22885:24601 1/1:-3137.94,-361.194,0:1279:8:1254:37173:229 0/1:-1112.97,0,-1222.81:1281:654:593:17579:18837 . 0/1:-1048.67,0,-1009.47:1081:524:529:16050:15605 0/1:-1557.02,0,-1636.42:1694:840:809:24114:24709 0/1:-1444.91,0,-1307.46:1470:698:731:22061:20280 0/1:-1074.63,0,-1032.89:1220:595:598:17276:16790 0/1:-1714.02,0,-1537.9:1711:814:864:25839:23804 . 0/1:-877.358,0,-828.72:959:459:478:13857:13230 1/1:-2467.03,-281.289,0:999:5:976:29273:158 1/1:-3449.35,-369.431,0:1411:22:1372:41038:615 0/1:-671.144,0,-696.172:776:381:373:10809:11011 . . 0/1:-665.392,0,-840.753:853:446:381:11032:12964 0/1:-1264.99,0,-1557.53:1534:812:688:20366:23504 1/1:-3026.85,-344.091,0:1226:8:1208:36110:258 . 0/1:-1693.7,0,-1664.41:1790:879:872:26202:25903 0/1:-1446.41,0,-1316.93:1504:711:748:22352:20593 1/1:-1737.07,-210.457,0:769:8:752:21444:218 0/1:-1234.05,0,-1366.2:1396:712:655:19444:20572 0/1:-1060.69,0,-883.638:1047:477:543:16130:13901 0/1:-1219.37,0,-1211.56:1322:644:639:19195:18798 0/1:-1141.22,0,-1235.65:1327:673:617:18176:19167 . . 0/1:-681.186,0,-742.31:922:452:433:11406:12218 . 0/1:-1498.93,0,-1557.75:1662:845:787:23476:24236 0/1:-1512.77,0,-1271.48:1486:682:771:23060:20093 0/1:-1470.48,0,-1390:1547:752:768:22912:21738 0/1:-862.156,0,-746.3:877:407:441:13237:11787 0/1:-790.426,0,-929.382:954:499:437:12750:14341 . 0/1:-1361.34,0,-1319.4:1449:705:714:21182:20797 0/1:-1430.75,0,-1392.27:1507:735:727:21798:21567 0/1:-1023.77,0,-1212.73:1222:628:566:16501:18469 0/1:-1155.88,0,-1216.34:1289:641:613:18243:18790 . 0/1:-902.641,0,-920.43:1004:492:485:14221:14224 0/1:-1370.48,0,-1222.16:1432:676:723:21457:19459 0/1:-774.758,0,-659.361:766:353:395:11679:10403 . . . 1/1:-3998.34,-462.407,0:1613:8:1590:47426:210 1/1:-3429.73,-369.429,0:1435:23:1396:41583:685 . . . 0/1:-1094.78,0,-1336.01:1199:646:535:16784:19542:646,535 0/1:-1256.93,0,-1282.05:1251:621:609:18885:19084:621,609 1/1:-1861.3,-205.603,0:687:0:683:21550:0:0,683 1/1:-2612.5,-282.73,0:1001:8:987:30660:200:8,987 1/1:-3465.45,-378.087,0:1310:6:1297:40585:159:6,1297 1/1:-2756.62,-280.937,0:1025:9:1008:32260:285:9,1008 0/1:-1108.25,0,-1080.67:1068:531:519:16442:16165:531,519 0/1:-1223.87,0,-1048.47:1082:511:564:17920:15809:511,564 0/1:-1166.76,0,-1028.62:1090:512:560:17406:15745:512,560 0/1:-1287.12,0,-1338.18:1300:650:625:19341:19858:650,625 0/1:-895.942,0,-888.311:869:428:424:13463:13174:428,424 1/1:-2692.07,-288.449,0:1029:9:1012:31523:213:9,1012 1/1:-2797.97,-300.619,0:1051:5:1036:32532:143:5,1036 0/1:-1234.06,0,-1092.19:1135:537:585:18476:16561:537,585 0/1:-1048,0,-1071.86:1051:516:510:15908:16018:516,510 0/1:-1177.68,0,-1181.02:1158:579:561:17676:17614:579,561 1/1:-2784.91,-302.482,0:1020:1:1008:32196:14:1,1008 1/1:-2624.78,-279.781,0:967:3:957:30514:104:3,957 0/1:-1217.34,0,-1036.13:1097:517:565:17876:15671:517,565 chr18 3112406 . C T 12956.15 . AB=0.438728;ABP=59.4234;AC=2;AF=0.5;AN=4;AO=759;CIGAR=1X;DP=3241;DPB=1730;DPRA=0;EPP=3.35648;EPPR=23.9702;GTI=0;LEN=1;MEANALT=3;MQM=37.0751;MQMR=37.9273;NS=1;NUMALT=1;ODDS=2951.84;PAIRED=0.935441;PAIREDR=0.943316;PAO=0;PQA=0;PQR=0;PRO=0;QA=21829;QR=28951;RO=935;RPL=391;RPP=4.52375;RPPR=5.85528;RPR=368;RUN=1;SAF=323;SAP=39.542;SAR=436;SF=0,1;SRF=430;SRP=16.074;SRR=505;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon21:c.G3020A:p.R1007Q,MYOM1:NM_003803:exon22:c.G3308A:p.R1103Q;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=8.1e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.1e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs186972208;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.471e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.154e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=230835;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.761;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.102;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.035;MutationAssessor_pred=N;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=0.38;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=1.986;CADD_phred=16.13;DANN_score=0.924;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.058;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.13;phyloP7way_vertebrate=0.021;phyloP20way_mammalian=-0.509;phastCons7way_vertebrate=0.894;phastCons20way_mammalian=0.843;SiPhy_29way_logOdds=2.219;GDI_full_10282015=.;dpsi_max_tissue=-0.5873;dpsi_zscore=-1.174;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.368e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.545e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1298.12,0,-1890.15:1730:935:759:21829:28951 . . . . . . . . . . . . . . . 0/1:-1375.69,0,-1708.6:1511:790:700:21387:25236:790,700 . . . . . . . . . chr18 3126811 . A G 15081.22 . AB=0.484034;ABP=5.64526;AC=54;AF=0.5;AN=98;AO=576;CIGAR=1X;DP=70505;DPB=1190;DPRA=0;EPP=53.7383;EPPR=153.61;GTI=0;LEN=1;MEANALT=3;MQM=37.5312;MQMR=38.9807;NS=1;NUMALT=1;ODDS=2335.79;PAIRED=0.951389;PAIREDR=0.978984;PAO=0;PQA=0;PQR=0;PRO=0;QA=16450;QR=16994;RO=571;RPL=275;RPP=5.55876;RPPR=4.68739;RPR=301;RUN=1;SAF=237;SAP=42.2325;SAR=339;SF=0,1;SRF=232;SRP=46.55;SRR=339;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon18:c.T2591C:p.I864T,MYOM1:NM_003803:exon19:c.T2879C:p.I960T;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.1796;esp6500siv2_ea=0.1415;esp6500siv2_all=0.1796;esp6500siv2_ea=0.1415;1000g2015aug_all=0.254393;avsnp147=rs1071600;Kaviar_AF=0.184202;Kaviar_AC=28478;Kaviar_AN=154602;ExAC_ALL=0.1997;ExAC_AFR=0.2747;ExAC_AMR=0.2458;ExAC_EAS=0.3306;ExAC_FIN=0.1835;ExAC_NFE=0.1523;ExAC_OTH=0.1863;ExAC_SAS=0.2538;CLNALLELEID=230838;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.025;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=1.69;PROVEAN_pred=N;VEST3_score=0.012;CADD_raw=0.079;CADD_phred=3.381;DANN_score=0.599;fathmm-MKL_coding_score=0.099;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.949;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.595;integrated_confidence_value=0;GERP++_RS=1.43;phyloP7way_vertebrate=-0.056;phyloP20way_mammalian=0.145;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=7.397;GDI_full_10282015=.;dpsi_max_tissue=0.2504;dpsi_zscore=0.814;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1929;gnomAD_exome_AFR=0.2687;gnomAD_exome_AMR=0.2312;gnomAD_exome_ASJ=0.1560;gnomAD_exome_EAS=0.3210;gnomAD_exome_FIN=0.1811;gnomAD_exome_NFE=0.1432;gnomAD_exome_OTH=0.1946;gnomAD_exome_SAS=0.2424;gnomAD_genome_ALL=0.1926;gnomAD_genome_AFR=0.2625;gnomAD_genome_AMR=0.2243;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.3081;gnomAD_genome_FIN=0.1873;gnomAD_genome_NFE=0.1403;gnomAD_genome_OTH=0.1864;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-1031.78,0,-1092.86:1190:571:576:16450:16994 . 0/1:-1276.49,0,-1090.88:1298:584:675:19366:17239 0/1:-1363.82,0,-1488.19:1573:770:760:21724:22974 . . . . . 0/1:-1737.61,0,-1890.81:1989:989:945:27478:29317 0/1:-952.612,0,-842.126:1021:452:528:14808:13537 . 0/1:-1263.22,0,-1176.66:1336:608:697:19576:18451 . 0/1:-869.411,0,-894.123:953:460:476:13490:13776 . . 0/1:-1716.28,0,-1545.05:1762:793:923:26050:24132 . 0/1:-1026.28,0,-824.214:1080:463:582:16061:13651 0/1:-1223.23,0,-1341.26:1401:689:673:19296:20540 . 1/1:-2373.97,-279.976,0:1072:16:1018:28504:368 0/1:-1025.7,0,-982.097:1093:511:548:15875:15180 . 0/1:-1899.83,0,-1562.15:1879:841:983:28532:24997 0/1:-1365.79,0,-1356.3:1503:724:742:21379:21271 . 0/1:-1270.52,0,-1242.58:1359:648:677:19659:19382 . . . . . . . . . 0/1:-1575.86,0,-1761.31:1839:904:881:24912:27099 . 0/1:-1240.64,0,-1362.22:1470:720:698:19604:21194 0/1:-616.01,0,-854.452:797:426:346:9850:12778 . . . . 0/1:-1604.72,0,-1719.64:1829:908:867:25324:26953 0/1:-1505.09,0,-1453.77:1620:753:821:23017:22639 . 0/1:-1050.91,0,-1043.12:1125:542:556:16180:16077 0/1:-1290.31,0,-1528.48:1553:805:699:20522:23461 0/1:-775.205,0,-693.511:841:382:430:12335:11231 0/1:-922.922,0,-1053.04:1097:547:515:14483:16169 . . . . 1/1:-2032.27,-206.685,0:948:27:887:24917:836 0/1:-1587.21,0,-1537.17:1720:804:859:24590:24144 0/1:-1411,0,-1393.83:1531:735:748:21775:21787 . . . 0/1:-1249.55,0,-1126.37:1338:618:684:19389:18202 . 0/1:-1900.51,0,-1608.98:1878:857:985:28657:25540 0/1:-1475.55,0,-1474.41:1621:777:807:22932:22826 . . 0/1:-1478.3,0,-1415.87:1614:761:803:23082:22266 0/1:-1309.01,0,-1566.75:1549:785:720:20704:23441 . 0/1:-880.28,0,-815.205:907:413:468:13398:12726 0/1:-720.273,0,-1031.41:946:507:405:11673:15323 1/1:-3435.39,-392.486,0:1526:26:1465:41511:677 0/1:-1501.09,0,-1552.31:1679:804:830:23640:23875 0/1:-1547.03,0,-1509.1:1679:797:826:23947:23427 . . . . . . . 1/1:-4603.21,-494.713,0:2026:46:1930:55354:1331 0/1:-1115.48,0,-1270.74:1273:645:587:17459:19381 . . 0/1:-1509.4,0,-1399.61:1619:757:810:23255:22241 . 1/1:-4387.96,-477.2,0:1724:14:1671:51093:375:14,1671 . . . 0/1:-1488.54,0,-1374.92:1435:671:731:22145:20671:671,731 . . 0/1:-1330.85,0,-1751.69:1559:841:689:20895:25611:841,689 0/1:-1537.63,0,-1378.07:1481:700:745:22811:20922:700,745 0/1:-1609.98,0,-1462.16:1560:746:788:23928:22540:746,788 . . . . . 0/1:-1538.89,0,-1281.79:1425:650:736:22754:19706:650,736 0/1:-1651.81,0,-1798.1:1749:888:825:25043:26724:888,825 . 0/1:-1229.94,0,-1344.74:1274:638:611:18744:19904:638,611 0/1:-1672.1,0,-1795.35:1764:894:840:25440:26897:894,840 chr18 3129297 . C T 2965.81 . AB=0.423077;ABP=23.0547;AC=2;AF=0.5;AN=4;AO=165;CIGAR=1X;DP=945;DPB=390;DPRA=0;EPP=29.6602;EPPR=40.2462;GTI=0;LEN=1;MEANALT=3;MQM=37.7879;MQMR=37.6502;NS=1;NUMALT=1;ODDS=539.684;PAIRED=0.957576;PAIREDR=0.990148;PAO=0;PQA=0;PQR=0;PRO=0;QA=4235;QR=5863;RO=203;RPL=78;RPP=4.0763;RPPR=3.27772;RPR=87;RUN=1;SAF=116;SAP=62.0875;SAR=49;SF=0;SRF=146;SRP=87.7405;SRR=57;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon18:c.G2727A:p.P909P;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0034;1000g2015aug_all=0.000599042;avsnp147=rs72860212;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0001;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0034;ExAC_OTH=0.0022;ExAC_SAS=0.0008;CLNALLELEID=222750;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3723;dpsi_zscore=-0.950;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0036;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-251.068,0,-377.793:390:203:165:4235:5863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-379.311,0,-511.087:555:279:248:6484:8074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3129307 . T G 4951.97 . AB=0.494768;ABP=3.16935;AC=1;AF=0.5;AN=2;AO=331;CIGAR=1X;DP=669;DPB=669;DPRA=0;EPP=29.0483;EPPR=58.3698;GTI=0;LEN=1;MEANALT=3;MQM=36.3867;MQMR=37.5572;NS=1;NUMALT=1;ODDS=1140.23;PAIRED=0.945619;PAIREDR=0.978916;PAO=0;PQA=0;PQR=0;PRO=0;QA=8652;QR=9097;RO=332;RPL=210;RPP=54.9747;RPPR=76.5003;RPR=121;RUN=1;SAF=206;SAP=46.0527;SAR=125;SF=0;SRF=217;SRP=71.0585;SRR=115;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon18:c.A2717C:p.E906A;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs760763098;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.648e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=402755;CLNDN=Hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.641;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.821;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=0.9;FATHMM_pred=T;PROVEAN_score=-0.24;PROVEAN_pred=N;VEST3_score=0.133;CADD_raw=-1.114;CADD_phred=0.009;DANN_score=0.677;fathmm-MKL_coding_score=0.015;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.015;MetaSVM_pred=T;MetaLR_score=0.059;MetaLR_pred=T;integrated_fitCons_score=0.649;integrated_confidence_value=0;GERP++_RS=-1.56;phyloP7way_vertebrate=-0.656;phyloP20way_mammalian=0.085;phastCons7way_vertebrate=0.117;phastCons20way_mammalian=0.442;SiPhy_29way_logOdds=13.012;GDI_full_10282015=.;dpsi_max_tissue=-0.1549;dpsi_zscore=-0.592;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.686e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-514.972,0,-560.667:669:332:331:8652:9097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3129309 . T C 4978.74 . AB=0.465224;ABP=9.80664;AC=1;AF=0.5;AN=2;AO=301;CIGAR=1X;DP=647;DPB=647;DPRA=0;EPP=3.07523;EPPR=9.39698;GTI=0;LEN=1;MEANALT=3;MQM=36.3754;MQMR=37.4641;NS=1;NUMALT=1;ODDS=1146.4;PAIRED=0.953488;PAIREDR=0.928105;PAO=0;PQA=0;PQR=0;PRO=0;QA=8424;QR=8642;RO=306;RPL=151;RPP=3.01751;RPPR=14.3644;RPR=150;RUN=1;SAF=181;SAP=29.8543;SAR=120;SF=0;SRF=191;SRP=43.9986;SRR=115;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon18:c.A2715G:p.E905E;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000798722;avsnp147=rs200170795;Kaviar_AF=0.000414;Kaviar_AC=64;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0017;CLNALLELEID=469269;CLNDN=Hypertrophic_cardiomyopathy;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2723;dpsi_zscore=0.849;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-508.087,0,-536.525:647:306:301:8424:8642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3129368 . T C 6530.67 . AB=0.47482;ABP=8.36868;AC=2;AF=0.5;AN=4;AO=462;CIGAR=1X;DP=1831;DPB=973;DPRA=0;EPP=75.2799;EPPR=73.1543;GTI=0;LEN=1;MEANALT=3;MQM=37.3528;MQMR=38.0084;NS=1;NUMALT=1;ODDS=1675.93;PAIRED=0.935065;PAIREDR=0.943277;PAO=0;PQA=0;PQR=0;PRO=0;QA=12416;QR=13836;RO=476;RPL=147;RPP=135.668;RPPR=94.9968;RPR=315;RUN=1;SAF=196;SAP=26.0411;SAR=266;SF=0;SRF=207;SRP=20.5463;SRR=269;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon18:c.A2656G:p.S886G;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs199900004;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=8.639e-05;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=230840;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.286;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.92;FATHMM_pred=T;PROVEAN_score=-0.35;PROVEAN_pred=N;VEST3_score=0.059;CADD_raw=-0.620;CADD_phred=0.111;DANN_score=0.773;fathmm-MKL_coding_score=0.208;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.066;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_pred=T;integrated_fitCons_score=0.002;integrated_confidence_value=3;GERP++_RS=-5.95;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=-0.245;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=7.904;GDI_full_10282015=.;dpsi_max_tissue=0.5282;dpsi_zscore=1.160;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-758.92,0,-880.986:973:476:462:12416:13836 . . . . . . . . . . . . . . . . . . . . . . 0/1:-612.77,0,-751.193:858:413:405:10227:11841 . . . . . . . . . . . . . . . . . . . . . chr18 3129535 . C T 539.26 . AB=0.432203;ABP=7.72129;AC=2;AF=0.5;AN=4;AO=51;CIGAR=1X;DP=239;DPB=118;DPRA=0;EPP=55.1682;EPPR=29.6108;GTI=0;LEN=1;MEANALT=3;MQM=34.549;MQMR=36.5938;NS=1;NUMALT=1;ODDS=115.217;PAIRED=1;PAIREDR=0.921875;PAO=0;PQA=0;PQR=0;PRO=0;QA=1490;QR=2053;RO=64;RPL=47;RPP=81.7368;RPPR=74.8046;RPR=4;RUN=1;SAF=4;SAP=81.7368;SAR=47;SF=0,1;SRF=9;SRP=74.8046;SRR=55;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0042;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0042;1000g2015aug_all=0.00199681;avsnp147=rs182865142;Kaviar_AF=0.0030983;Kaviar_AC=479;Kaviar_AN=154602;ExAC_ALL=0.0032;ExAC_AFR=0.0006;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0051;ExAC_OTH=0.0059;ExAC_SAS=7.996e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.1478;dpsi_zscore=1.606;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0031;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0116;gnomAD_exome_EAS=5.89e-05;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0024;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-79.9427,0,-132.206:118:64:51:1490:2053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-104.735,0,-132.401:121:66:54:1667:2001:66,54 . . . . . . . . . . . . . . chr18 3134826 . A C 7036.05 . AB=0.487885;ABP=4.16778;AC=4;AF=0.5;AN=8;AO=443;CIGAR=1X;DP=3581;DPB=908;DPRA=0;EPP=41.837;EPPR=59.4638;GTI=0;LEN=1;MEANALT=3;MQM=38.5237;MQMR=38.5821;NS=1;NUMALT=1;ODDS=1681.94;PAIRED=0.961625;PAIREDR=0.971554;PAO=0;PQA=0;PQR=0;PRO=0;QA=12045;QR=14068;RO=457;RPL=297;RPP=114.775;RPPR=123.135;RPR=146;RUN=1;SAF=210;SAP=5.60332;SAR=233;SF=0,1;SRF=220;SRP=4.38351;SRR=237;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0136;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0136;1000g2015aug_all=0.00599042;avsnp147=rs143030509;Kaviar_AF=0.0103362;Kaviar_AC=1598;Kaviar_AN=154602;ExAC_ALL=0.0101;ExAC_AFR=0.0019;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0.0269;ExAC_NFE=0.0139;ExAC_OTH=0.0134;ExAC_SAS=0.0018;CLNALLELEID=230846;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9646;dpsi_zscore=-1.450;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0103;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0067;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0286;gnomAD_exome_NFE=0.0140;gnomAD_exome_OTH=0.0131;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0124;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0289;gnomAD_genome_NFE=0.0159;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-753.882,0,-913.216:908:457:443:12045:14068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-629.614,0,-924.837:838:457:371:10457:13953 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-646.007,0,-885.281:841:449:383:10807:13825 . . . . . . . . . . . . . . . . . . . 0/1:-947.813,0,-1071.47:994:517:473:14470:16215:517,473 . . . . . . . . . . . . chr18 3141991 . G A 5399.66 . AB=0.419095;ABP=59.5799;AC=3;AF=0.5;AN=6;AO=417;CIGAR=1X;DP=2385;DPB=995;DPRA=0;EPP=8.01458;EPPR=3.90678;GTI=0;LEN=1;MEANALT=3;MQM=36.6139;MQMR=37.1486;NS=1;NUMALT=1;ODDS=1480.59;PAIRED=0.942446;PAIREDR=0.915596;PAO=0;PQA=0;PQR=0;PRO=0;QA=11657;QR=16431;RO=545;RPL=244;RPP=29.2606;RPPR=37.471;RPR=173;RUN=1;SAF=164;SAP=44.2579;SAR=253;SF=0,1;SRF=221;SRP=45.2803;SRR=324;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon14:c.C1971T:p.S657S,MYOM1:NM_019856:exon14:c.C1971T:p.S657S;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs369168803;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=7.47e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.013e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0658;dpsi_zscore=-0.332;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.5e-05;gnomAD_exome_AFR=6.548e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-661.81,0,-1047.75:995:545:417:11657:16431 . . . . . . . 0/1:-400.561,0,-782.048:679:391:268:7447:12105 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-682.799,0,-763.619:711:365:335:10450:11518:365,335 . . . . . chr18 3149115 . T C 2042.92 . AB=0.48374;ABP=3.57524;AC=1;AF=0.5;AN=2;AO=119;CIGAR=1X;DP=246;DPB=246;DPRA=0;EPP=43.3194;EPPR=66.6327;GTI=0;LEN=1;MEANALT=1;MQM=39.2773;MQMR=38.8976;NS=1;NUMALT=1;ODDS=470.401;PAIRED=0.983193;PAIREDR=0.952756;PAO=0;PQA=0;PQR=0;PRO=0;QA=3768;QR=4213;RO=127;RPL=10;RPP=181.856;RPPR=213.677;RPR=109;RUN=1;SAF=93;SAP=84.9241;SAR=26;SF=0;SRF=102;SRP=104.386;SRR=25;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756070446;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.299e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0220;dpsi_zscore=0.149;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.686e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.665e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-244.427,0,-279.497:246:127:119:3768:4213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3151681 . A T 3751.89 . AB=0.506112;ABP=3.14303;AC=1;AF=0.5;AN=2;AO=207;CIGAR=1X;DP=409;DPB=409;DPRA=0;EPP=5.3706;EPPR=3.70517;GTI=0;LEN=1;MEANALT=3;MQM=37.9807;MQMR=38.35;NS=1;NUMALT=1;ODDS=780.066;PAIRED=0.980676;PAIREDR=0.97;PAO=0;PQA=0;PQR=0;PRO=0;QA=6208;QR=5915;RO=200;RPL=75;RPP=37.093;RPPR=47.4821;RPR=132;RUN=1;SAF=161;SAP=141.743;SAR=46;SF=0;SRF=166;SRP=192.189;SRR=34;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770213946;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.178e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.201e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0057;dpsi_zscore=-0.009;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.405e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-400.672,0,-371.012:409:200:207:6208:5915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3155098 . G A 8278.33 . AB=0.466151;ABP=13.3006;AC=1;AF=0.5;AN=2;AO=482;CIGAR=1X;DP=1034;DPB=1034;DPRA=0;EPP=34.7985;EPPR=24.012;GTI=0;LEN=1;MEANALT=3;MQM=36.4647;MQMR=37.9142;NS=1;NUMALT=1;ODDS=1906.16;PAIRED=0.941909;PAIREDR=0.936567;PAO=0;PQA=0;PQR=0;PRO=0;QA=14458;QR=17153;RO=536;RPL=341;RPP=183.215;RPPR=221.065;RPR=141;RUN=1;SAF=148;SAP=158.87;SAR=334;SF=0;SRF=168;SRP=165.06;SRR=368;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00119808;avsnp147=rs201937304;Kaviar_AF=0.0011902;Kaviar_AC=184;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0014;ExAC_SAS=0.0123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0895;dpsi_zscore=-0.417;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0010;gnomAD_exome_SAS=0.0097;gnomAD_genome_ALL=3.228e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-874.064,0,-1108.02:1034:536:482:14458:17153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3164385 . C T 10347.86 . AB=0.490798;ABP=3.96948;AC=44;AF=0.5;AN=80;AO=640;CIGAR=1X;DP=39473;DPB=1304;DPRA=0;EPP=3.02387;EPPR=6.09283;GTI=0;LEN=1;MEANALT=3;MQM=38.6437;MQMR=39.9054;NS=1;NUMALT=1;ODDS=2651.64;PAIRED=0.970313;PAIREDR=0.970032;PAO=0;PQA=0;PQR=0;PRO=0;QA=18441;QR=19081;RO=634;RPL=238;RPP=94.2664;RPPR=17.0392;RPR=402;RUN=1;SAF=427;SAP=158.393;SAR=213;SF=0,1;SRF=411;SRP=124.065;SRR=223;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon10:c.G1392A:p.R464R,MYOM1:NM_019856:exon10:c.G1392A:p.R464R;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2218;esp6500siv2_ea=0.2072;esp6500siv2_all=0.2218;esp6500siv2_ea=0.2072;1000g2015aug_all=0.16873;avsnp147=rs11659820;Kaviar_AF=0.182617;Kaviar_AC=28233;Kaviar_AN=154602;ExAC_ALL=0.2156;ExAC_AFR=0.2866;ExAC_AMR=0.1961;ExAC_EAS=0.0080;ExAC_FIN=0.1741;ExAC_NFE=0.2406;ExAC_OTH=0.1934;ExAC_SAS=0.2001;CLNALLELEID=230876;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4215;dpsi_zscore=1.047;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1796;gnomAD_exome_AFR=0.2624;gnomAD_exome_AMR=0.1541;gnomAD_exome_ASJ=0.1926;gnomAD_exome_EAS=0.0053;gnomAD_exome_FIN=0.1476;gnomAD_exome_NFE=0.2097;gnomAD_exome_OTH=0.1907;gnomAD_exome_SAS=0.1741;gnomAD_genome_ALL=0.1943;gnomAD_genome_AFR=0.2700;gnomAD_genome_AMR=0.1579;gnomAD_genome_ASJ=0.1755;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.1388;gnomAD_genome_NFE=0.1874;gnomAD_genome_OTH=0.1820;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1184.78,0,-1255.5:1304:634:640:18441:19081 . . . . . . 1/1:-2111.47,-222.819,0:847:11:826:24683:330 . . 0/1:-994.629,0,-1004.57:1058:505:527:15341:15328 . . 1/1:-2013.75,-227.351,0:807:6:787:23512:155 . . . . . . 1/1:-2868.44,-319.574,0:1187:13:1150:33828:343 . . . 0/1:-633.019,0,-790.473:788:412:356:10371:12193 . 0/1:-859.765,0,-923.558:949:470:455:13225:14056 . 0/1:-849.585,0,-736.974:813:375:423:12611:11335 . . 0/1:-1019.26,0,-1067.5:1113:549:535:15654:16151 1/1:-2253.97,-225.434,0:960:25:922:27091:707 . . . 0/1:-941.072,0,-993.895:1028:497:500:14424:14878 . . . . . 0/1:-961.136,0,-1239.41:1134:604:503:15013:18269 . . 0/1:-924.595,0,-1056.19:1040:519:501:14425:15838 0/1:-636.013,0,-416.113:566:232:317:9268:6807 . . 0/1:-1067.56,0,-1164.96:1165:583:548:16372:17562 . . 0/1:-1038.3,0,-1092.94:1129:557:543:15849:16506 0/1:-612.581,0,-808.098:758:402:331:9685:11959 . 0/1:-1043.09,0,-1037.7:1063:512:526:15732:15675 . . 0/1:-825.716,0,-971.493:950:482:448:12797:14460 . . . . . 0/1:-978.517,0,-987.594:1061:509:525:15019:15234 0/1:-613.657,0,-596.033:675:311:341:9464:9312 . 0/1:-616.698,0,-854.279:772:417:339:9888:12585 0/1:-944.821,0,-1056.24:1072:535:513:14572:16187 0/1:-911.005,0,-1040.17:1018:519:471:14147:15629 . . 0/1:-661.999,0,-747.149:805:407:377:10810:11550 . . 0/1:-968.89,0,-1129.18:1122:573:515:15108:17062 0/1:-1134.75,0,-1267.88:1235:619:585:17327:18759 0/1:-714.01,0,-678.04:736:348:364:10731:10403 . . 0/1:-1155.72,0,-1149.91:1207:580:601:17568:17377 . . 0/1:-814.264,0,-907.482:949:477:447:12750:13923 . . 0/1:-1078.51,0,-1055.18:1126:535:563:16430:16021 . . . . . 0/1:-898.736,0,-1171.27:1118:592:497:14311:17469 0/1:-1155.29,0,-1105.02:1189:566:592:17728:16973 . . . 0/1:-1106.12,0,-1189.22:1109:563:531:16377:17451:563,531 . 0/1:-885.575,0,-1047.84:937:485:437:13393:15358:485,437 . . 0/1:-1012.4,0,-1115.85:1017:522:478:15011:16266:522,478 . . . 0/1:-696.151,0,-829.3:731:384:335:10483:11887:384,335 . . . 0/1:-1026.31,0,-950.798:955:457:481:15053:14228:457,481 0/1:-1120.46,0,-1195.76:1088:546:527:16552:17507:546,527 0/1:-873.645,0,-992.207:892:452:420:13027:14493:452,420 . . chr18 3164441 . G T 7744.98 . AB=0.512042;ABP=4.21314;AC=1;AF=0.5;AN=2;AO=489;CIGAR=1X;DP=955;DPB=955;DPRA=0;EPP=212.116;EPPR=202.466;GTI=0;LEN=1;MEANALT=2;MQM=39.7219;MQMR=40.7316;NS=1;NUMALT=1;ODDS=1783.35;PAIRED=0.993865;PAIREDR=0.991342;PAO=0;PQA=0;PQR=0;PRO=0;QA=12632;QR=13096;RO=462;RPL=263;RPP=9.08953;RPPR=5.28518;RPR=226;RUN=1;SAF=261;SAP=7.84616;SAR=228;SF=0;SRF=234;SRP=3.17951;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs534659625;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0007;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=243051;CLNDN=Hypertrophic_cardiomyopathy;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7923;dpsi_zscore=-1.338;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=4.301e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-804.803,0,-852.612:955:462:489:12632:13096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3168816 . G A 6652.20 . AB=0;ABP=0;AC=58;AF=1;AN=100;AO=531;CIGAR=1X;DP=28369;DPB=552;DPRA=0;EPP=6.44949;EPPR=8.59409;GTI=0;LEN=1;MEANALT=3;MQM=38.5405;MQMR=38.7143;NS=1;NUMALT=1;ODDS=620.947;PAIRED=0.952919;PAIREDR=0.928571;PAO=0;PQA=0;PQR=0;PRO=0;QA=15607;QR=413;RO=14;RPL=292;RPP=14.4974;RPPR=5.49198;RPR=239;RUN=1;SAF=291;SAP=13.6468;SAR=240;SF=0,1;SRF=7;SRP=3.0103;SRR=7;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon9:c.C1338T:p.N446N,MYOM1:NM_019856:exon9:c.C1338T:p.N446N;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2792;esp6500siv2_ea=0.2648;esp6500siv2_all=0.2792;esp6500siv2_ea=0.2648;1000g2015aug_all=0.282149;avsnp147=rs2230167;Kaviar_AF=0.258082;Kaviar_AC=39900;Kaviar_AN=154602;ExAC_ALL=0.2620;ExAC_AFR=0.3255;ExAC_AMR=0.1886;ExAC_EAS=0.2747;ExAC_FIN=0.2263;ExAC_NFE=0.2619;ExAC_OTH=0.2360;ExAC_SAS=0.2855;CLNALLELEID=230878;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0308;dpsi_zscore=0.201;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2571;gnomAD_exome_AFR=0.3226;gnomAD_exome_AMR=0.1875;gnomAD_exome_ASJ=0.2727;gnomAD_exome_EAS=0.2792;gnomAD_exome_FIN=0.2254;gnomAD_exome_NFE=0.2633;gnomAD_exome_OTH=0.2612;gnomAD_exome_SAS=0.2827;gnomAD_genome_ALL=0.2816;gnomAD_genome_AFR=0.3193;gnomAD_genome_AMR=0.2196;gnomAD_genome_ASJ=0.2781;gnomAD_genome_EAS=0.2770;gnomAD_genome_FIN=0.2443;gnomAD_genome_NFE=0.2740;gnomAD_genome_OTH=0.2566;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1273.14,-128.802,0:552:14:531:15607:413 . . 0/1:-377.728,0,-332.848:376:173:199:5791:5227 . 0/1:-664.557,0,-752.447:752:380:361:10594:11537 . . . 0/1:-521.458,0,-759.571:677:383:290:8664:11291 . . . . 0/1:-502.241,0,-568.198:554:278:262:8007:8569 . 0/1:-528.725,0,-446.551:516:238:271:8100:6955 . . . . . 0/1:-346.97,0,-381.09:406:205:200:5688:6094 . . 1/1:-1194.71,-130.703,0:517:9:501:14533:279 0/1:-518.69,0,-556.205:579:283:285:8336:8591 0/1:-606.099,0,-574.48:608:299:299:9254:8808 0/1:-444.714,0,-414.265:460:218:229:6888:6609 . 0/1:-502.5,0,-533.804:561:282:270:8064:8318 . . . . . 0/1:-511.245,0,-481.784:536:264:263:7877:7633 . . . . 0/1:-678.369,0,-516.056:599:263:323:9944:8056 . 0/1:-608.008,0,-536.776:607:288:305:9347:8416 0/1:-897.105,0,-809.51:900:419:458:13578:12551 . . 0/1:-367.752,0,-345.803:368:172:190:5746:5277 0/1:-537.585,0,-509.453:566:270:279:8283:8007 . 0/1:-742.59,0,-628.331:717:331:380:11555:9869 . . 0/1:-730.282,0,-682.503:735:352:372:11259:10605 . 1/1:-1105.8,-119.879,0:467:8:452:13560:226 . 0/1:-357.845,0,-438.488:441:227:203:5902:6737 0/1:-463.744,0,-399.472:461:219:236:7061:6414 . 0/1:-349.375,0,-424.049:421:217:193:5531:6451 . . . . . 1/1:-1012.71,-123.065,0:419:1:412:12170:14 0/1:-616.693,0,-733.307:732:366:350:10151:11105 . . . . 1/1:-1850.86,-200.33,0:768:13:750:22581:366 . . . 0/1:-652.847,0,-629.424:677:325:341:10098:9720 . . 0/1:-416.296,0,-383.048:416:200:210:6408:5944 . 1/1:-1757.41,-194.996,0:729:11:706:21019:277 . 0/1:-613.11,0,-596.863:633:301:322:9716:9155 0/1:-557.672,0,-420.579:515:230:280:8548:6769 0/1:-485.772,0,-601.838:570:293:266:7779:8930 0/1:-494.096,0,-511.79:534:261:267:7888:7862 . . 0/1:-589.501,0,-531.887:599:274:317:9445:8393 . 0/1:-514.108,0,-484.767:543:260:276:8070:7573 0/1:-772.348,0,-740.355:775:377:392:11954:11364 . 0/1:-526.268,0,-562.161:586:289:289:8390:8921 . 0/1:-454.944,0,-642.034:529:293:227:7077:9216:293,227 0/1:-440.405,0,-703.291:558:324:224:7097:10045:324,224 . 0/1:-270.34,0,-277.862:271:139:131:4220:4193:139,131 1/1:-1088.92,-115.097,0:417:3:410:12932:104:3,410 0/1:-558.186,0,-742.179:611:336:271:8620:10651:336,271 0/1:-504.809,0,-667.813:575:303:261:8009:9559:303,261 1/1:-1553.54,-161.073,0:606:8:594:18583:227:8,594 0/1:-598.301,0,-511.626:540:253:276:8803:7885:253,276 0/1:-687.42,0,-591.944:594:285:305:9926:8862:285,305 . . . . 0/1:-608.326,0,-626.22:610:303:299:9245:9314:303,299 . 0/1:-708.858,0,-712.996:686:340:334:10618:10630:340,334 . 0/1:-472.834,0,-533.989:500:258:231:7243:7894:258,231 . chr18 3173964 . G A 13459.05 . AB=0;ABP=0;AC=58;AF=1;AN=98;AO=1178;CIGAR=1X;DP=60197;DPB=1220;DPRA=0;EPP=17.9415;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=34.6299;MQMR=38.4091;NS=1;NUMALT=1;ODDS=1447.58;PAIRED=0.970289;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=34052;QR=629;RO=22;RPL=639;RPP=21.4439;RPPR=4.58955;RPR=539;RUN=1;SAF=843;SAP=478.714;SAR=335;SF=0,1;SRF=16;SRP=12.8806;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon8:c.C1146T:p.H382H,MYOM1:NM_019856:exon8:c.C1146T:p.H382H;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.3395;esp6500siv2_ea=0.3157;esp6500siv2_all=0.3395;esp6500siv2_ea=0.3157;1000g2015aug_all=0.316094;avsnp147=rs2230163;Kaviar_AF=0.29834;Kaviar_AC=46124;Kaviar_AN=154602;ExAC_ALL=0.3010;ExAC_AFR=0.3991;ExAC_AMR=0.2033;ExAC_EAS=0.2496;ExAC_FIN=0.2929;ExAC_NFE=0.3103;ExAC_OTH=0.2617;ExAC_SAS=0.3061;CLNALLELEID=230880;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2262;dpsi_zscore=-1.592;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2975;gnomAD_exome_AFR=0.4106;gnomAD_exome_AMR=0.2111;gnomAD_exome_ASJ=0.3182;gnomAD_exome_EAS=0.2491;gnomAD_exome_FIN=0.2918;gnomAD_exome_NFE=0.3126;gnomAD_exome_OTH=0.2966;gnomAD_exome_SAS=0.3053;gnomAD_genome_ALL=0.3386;gnomAD_genome_AFR=0.4137;gnomAD_genome_AMR=0.2506;gnomAD_genome_ASJ=0.3278;gnomAD_genome_EAS=0.2454;gnomAD_genome_FIN=0.3003;gnomAD_genome_NFE=0.3221;gnomAD_genome_OTH=0.2924;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2672.72,-309.298,0:1220:22:1178:34052:629 . . 0/1:-755.971,0,-878.606:909:448:446:12564:13468 . 0/1:-1498.92,0,-1424.52:1673:777:866:24814:22488 . . 0/1:-1258.02,0,-1089.74:1297:592:671:19325:17072 0/1:-1120.4,0,-1384.76:1380:704:655:18971:20749 . . . . 0/1:-1164.59,0,-1102.45:1257:597:637:18253:17271 . 0/1:-910.558,0,-1021.6:1097:538:533:15546:15743 . . . . . 0/1:-670.659,0,-820.694:883:437:419:11756:12869 . . 1/1:-2636.99,-333.105,0:1186:8:1157:32656:210 0/1:-1215.44,0,-1437.85:1491:759:694:20272:22075 . 0/1:-824.544,0,-1113.11:1124:589:512:14644:16896 . . . 0/1:-1264.92,0,-1252.63:1399:667:703:20124:19509 . . 0/1:-1480.38,0,-1373.71:1639:756:852:24481:21494 0/1:-1324.88,0,-1152.17:1424:625:762:21350:18294 . . . . . . 1/1:-3319.13,-401.246,0:1460:14:1427:41010:387 . . . 0/1:-637.276,0,-653.814:745:360:371:10600:10372 0/1:-928.091,0,-1223.44:1183:624:541:15797:18212 . . . . 0/1:-1379.4,0,-1525.89:1603:792:782:22245:23146 0/1:-1133.44,0,-925.305:1211:535:650:18048:15094 1/1:-2379.08,-295.735,0:1029:4:1008:29065:105 . 0/1:-716.398,0,-849.184:910:458:438:12393:13148 0/1:-1027.6,0,-1046.37:1187:569:594:16891:16390 . 0/1:-785.986,0,-968.16:1015:515:471:13433:14929 . . . . . 1/1:-1914.45,-245.916,0:890:9:866:24020:245 0/1:-1305.3,0,-1344.64:1485:716:745:21368:20788 . . 0/1:-1295.28,0,-1170.74:1367:638:704:20269:18460 . 1/1:-3428.23,-384.415,0:1564:33:1519:43667:958 . . . 0/1:-1240.49,0,-1386.15:1495:744:712:20704:21545 . . 0/1:-842.624,0,-799.854:939:434:481:13677:12557 . 1/1:-3544.79,-406.402,0:1609:30:1556:44126:840 . 0/1:-1281.27,0,-1361.95:1472:703:731:21024:20790 0/1:-1000.11,0,-956.082:1155:539:592:16823:15287 0/1:-1015.92,0,-1273.92:1268:649:594:17265:19245 0/1:-916.423,0,-984.223:1085:523:539:15448:15151 0/1:-1614.33,0,-1452.67:1690:785:877:25147:22787 . 0/1:-1233.76,0,-1385.17:1487:740:711:20669:21309 . 0/1:-1158.99,0,-1086.88:1253:588:639:18616:17051 0/1:-1534.21,0,-1893:1908:983:887:25664:28638 . 0/1:-1375.24,0,-1302.7:1535:725:774:21844:20676 . 0/1:-882.111,0,-1088.41:998:529:460:14236:15987:529,460 0/1:-848.123,0,-1119.89:976:531:438:13605:16198:531,438 . 0/1:-623.012,0,-785.435:700:363:329:10058:11439:363,329 1/1:-2213.31,-230.237,0:880:13:859:26444:366:13,859 0/1:-908.106,0,-1293.74:1100:595:492:14990:18733:595,492 0/1:-920.832,0,-1028.82:979:495:475:14492:15258:495,475 1/1:-2602.05,-263.552,0:1023:15:999:31377:473:15,999 . . . . . . 0/1:-849.135,0,-1174.38:1010:550:450:13715:16951:550,450 . 0/1:-987.438,0,-1173.11:1083:560:517:15896:17222:560,517 . 0/1:-959.989,0,-924.95:924:446:472:14666:13799:446,472 . chr18 3174018 . C T 10272.47 . AB=0;ABP=0;AC=43;AF=1;AN=82;AO=1208;CIGAR=1X;DP=46321;DPB=1241;DPRA=0;EPP=3.26915;EPPR=8.61041;GTI=0;LEN=1;MEANALT=3;MQM=32.8046;MQMR=41.6842;NS=1;NUMALT=1;ODDS=1502.84;PAIRED=0.979305;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=35304;QR=552;RO=19;RPL=446;RPP=182.509;RPPR=4.03889;RPR=762;RUN=1;SAF=726;SAP=110.031;SAR=482;SF=0,1;SRF=12;SRP=5.8675;SRR=7;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2135;esp6500siv2_ea=0.2582;esp6500siv2_all=0.2135;esp6500siv2_ea=0.2582;1000g2015aug_all=0.192292;avsnp147=rs17183883;Kaviar_AF=0.221084;Kaviar_AC=34180;Kaviar_AN=154602;ExAC_ALL=0.2227;ExAC_AFR=0.1186;ExAC_AMR=0.1595;ExAC_EAS=0.2429;ExAC_FIN=0.2136;ExAC_NFE=0.2474;ExAC_OTH=0.1726;ExAC_SAS=0.2250;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.1362;dpsi_zscore=-1.942;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2220;gnomAD_exome_AFR=0.1181;gnomAD_exome_AMR=0.1617;gnomAD_exome_ASJ=0.2251;gnomAD_exome_EAS=0.2433;gnomAD_exome_FIN=0.2152;gnomAD_exome_NFE=0.2517;gnomAD_exome_OTH=0.2217;gnomAD_exome_SAS=0.2237;gnomAD_genome_ALL=0.2176;gnomAD_genome_AFR=0.1271;gnomAD_genome_AMR=0.1751;gnomAD_genome_ASJ=0.2467;gnomAD_genome_EAS=0.2324;gnomAD_genome_FIN=0.2301;gnomAD_genome_NFE=0.2667;gnomAD_genome_OTH=0.2290;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2675.16,-320.407,0:1241:19:1208:35304:552 . . 0/1:-678.315,0,-904.535:862:439:407:12109:13551 . 0/1:-1235,0,-1471.49:1510:722:760:21848:22458 . . . 0/1:-1118.23,0,-1680.52:1513:800:681:20290:24819 . . . . . . 0/1:-853.6,0,-983.709:1045:491:531:15316:15094 . . . . . 0/1:-608.667,0,-836.592:846:426:392:11472:12869 . . 0/1:-812.063,0,-1083.72:1098:554:512:14815:17113 0/1:-1024.84,0,-1419.17:1321:693:599:18135:21063 . 0/1:-793.749,0,-1035.06:1072:535:510:14927:15848 . . . . . . 0/1:-1316.16,0,-1467.83:1528:733:772:23122:22335 0/1:-1156.06,0,-1030.87:1196:520:661:19696:16242 . . . . . . 0/1:-1073.27,0,-1270.36:1314:655:639:18730:20247 . . . 0/1:-619.883,0,-729.359:735:358:356:10665:11087 0/1:-732.422,0,-1215.31:1055:574:461:13562:17613 . . . . . . 0/1:-841.143,0,-867.445:960:462:484:14381:14118 . 0/1:-607.435,0,-875.001:798:414:366:10969:13109 0/1:-959.722,0,-953.454:1042:478:540:16115:14782 . 0/1:-685.083,0,-963.029:927:483:419:12441:14556 . . . . . 0/1:-482.703,0,-841.152:822:446:353:9820:13375 0/1:-1269.52,0,-1439.52:1468:707:740:22183:22000 . . . . 1/1:-3654.68,-422.748,0:1679:28:1630:48784:872 . . . 0/1:-1308.62,0,-1307.8:1408:648:738:22096:20217 . . 0/1:-803.151,0,-726.569:858:381:457:13714:11515 . 0/1:-1217.37,0,-1387.79:1464:719:715:21395:21893 . 0/1:-991.373,0,-1527.22:1368:733:609:17882:22525 0/1:-1001.34,0,-944.562:1073:475:579:17328:14799 0/1:-870.989,0,-1326.37:1185:629:538:16002:19519 0/1:-902.39,0,-982.688:1013:488:511:15363:15054 . . 0/1:-1034.83,0,-1449.78:1390:711:645:18788:21791 . 0/1:-1064.23,0,-1006.73:1139:511:606:17843:15799 0/1:-1482.17,0,-1809.89:1785:875:867:25862:27133 . . . 0/1:-819.701,0,-1082.42:945:496:438:13781:15740:496,438 0/1:-844.934,0,-1109.19:963:502:451:14244:16030:502,451 . 0/1:-486.718,0,-718.626:603:327:269:8321:10296:327,269 0/1:-829.804,0,-941.14:873:442:419:13370:14163:442,419 0/1:-1046.66,0,-1360.2:1197:629:554:17547:19804:629,554 0/1:-850.09,0,-1000.39:925:462:453:14041:14762:462,453 0/1:-961.679,0,-1013.88:976:474:491:15767:15383:474,491 . . . . . . 0/1:-907.371,0,-1194.45:1039:541:485:14938:17369:541,485 . 0/1:-1035.11,0,-1240.46:1134:574:545:17186:18247:574,545 . 0/1:-909.215,0,-1028.23:951:476:459:14612:15132:476,459 . chr18 3174056 . C A 14559.19 . AB=0;ABP=0;AC=58;AF=1;AN=98;AO=1397;CIGAR=1X;DP=68052;DPB=1432;DPRA=0;EPP=192.336;EPPR=26.2531;GTI=0;LEN=1;MEANALT=2;MQM=32.325;MQMR=39;NS=1;NUMALT=1;ODDS=1721.16;PAIRED=0.984968;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=39814;QR=668;RO=27;RPL=480;RPP=299.849;RPPR=3.09072;RPR=917;RUN=1;SAF=644;SAP=21.4779;SAR=753;SF=0,1;SRF=12;SRP=3.73412;SRR=15;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.3452;esp6500siv2_ea=0.3240;esp6500siv2_all=0.3452;esp6500siv2_ea=0.3240;1000g2015aug_all=0.315695;avsnp147=rs10153428;Kaviar_AF=0.0595529;Kaviar_AC=9207;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2458;dpsi_zscore=0.806;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3374;gnomAD_genome_AFR=0.4123;gnomAD_genome_AMR=0.2512;gnomAD_genome_ASJ=0.3278;gnomAD_genome_EAS=0.2435;gnomAD_genome_FIN=0.3005;gnomAD_genome_NFE=0.3206;gnomAD_genome_OTH=0.2926;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-3015.7,-369.588,0:1432:27:1397:39814:668 . . 0/1:-821.984,0,-1013.96:1066:541:510:14476:15370 . 0/1:-1403.36,0,-1633.75:1817:868:923:25357:25099 . . 0/1:-1199.18,0,-1433.39:1422:720:683:19256:21302 0/1:-1289.6,0,-1675.69:1708:864:829:23120:25153 . . . . 0/1:-1097.93,0,-1315.37:1336:674:646:17860:19698 . 0/1:-950.993,0,-1129.01:1266:604:646:17546:17456 . . . . . 0/1:-673.334,0,-887.951:960:483:459:12731:13645 . . 1/1:-2646.34,-343.806,0:1258:15:1226:33424:386 0/1:-1183.44,0,-1540.16:1568:806:744:20957:23311 . 0/1:-894.365,0,-1091.61:1247:612:619:16705:17088 . . . 0/1:-1425.35,0,-1663.01:1748:888:838:23377:25237 . . 0/1:-1467.69,0,-1638.58:1819:869:933:25794:25259 0/1:-1391.52,0,-1128.5:1504:641:848:23758:18233 . . . . . . 1/1:-3487.55,-424.865,0:1567:18:1525:43328:458 . . . 0/1:-723.335,0,-747.979:871:411:447:12451:11743 0/1:-862.918,0,-1222.26:1237:640:580:16024:18291 . . . . 0/1:-1585.86,0,-1542.33:1725:801:900:25241:23661 0/1:-1097.71,0,-1028.33:1277:599:663:18063:16618 1/1:-2707.52,-344.963,0:1200:8:1185:33614:196 . 0/1:-647.456,0,-980.048:980:521:450:12082:14843 0/1:-1111.95,0,-1027.12:1272:579:671:18850:16317 . 0/1:-779.896,0,-1060.59:1091:562:516:14319:16157 . . . . . 1/1:-2019.14,-245.639,0:987:21:947:26176:570 0/1:-1474.96,0,-1639.05:1815:877:915:25806:25299 . . 0/1:-1207.62,0,-1241.97:1377:669:694:19505:19287 . 1/1:-4206.44,-511.996,0:1970:34:1919:55355:908 . . . 0/1:-1479.92,0,-1447.46:1711:795:896:25561:22556 . . 0/1:-914.007,0,-887.167:1043:479:555:15744:13903 . 1/1:-3766.8,-445.166,0:1729:34:1676:47589:822 . 0/1:-1178.79,0,-1663.76:1621:847:757:21384:24822 0/1:-1131.3,0,-1030.81:1299:562:715:19531:16435 0/1:-1055.36,0,-1384.54:1413:711:688:18978:20851 0/1:-975.316,0,-1106.03:1195:584:597:16729:17006 0/1:-1467.99,0,-1548.46:1693:824:837:23304:23624 . 0/1:-1212.87,0,-1597.95:1649:824:807:22057:24341 . 0/1:-1214.74,0,-1106.37:1351:605:728:20633:17404 0/1:-1712.14,0,-2038.61:2157:1062:1072:30139:30804 . 0/1:-1557,0,-1374.36:1678:769:881:24604:21768 . 0/1:-997.637,0,-1268.26:1165:606:550:16581:18557:606,550 0/1:-1073.66,0,-1251.53:1190:598:583:17873:18329:598,583 . 0/1:-644.222,0,-784.308:751:379:368:10841:11557:379,368 1/1:-2624.4,-272.291,0:1058:16:1035:32129:511:16,1035 0/1:-1367.05,0,-1645.42:1555:794:756:23031:24284:794,756 0/1:-1052.27,0,-1176.89:1153:574:574:17319:17578:574,574 1/1:-2908.18,-297.282,0:1202:24:1166:36270:700:24,1166 . . . . . . 0/1:-1071.78,0,-1493.73:1321:715:605:18158:21790:715,605 . 0/1:-1256.51,0,-1498.72:1428:721:696:21230:22170:721,696 . 0/1:-1059.43,0,-1254.08:1170:602:560:17252:18390:602,560 . chr18 3174064 . G T 11760.19 . AB=0;ABP=0;AC=43;AF=1;AN=82;AO=1363;CIGAR=1X;DP=54302;DPB=1402;DPRA=0;EPP=318.495;EPPR=8.07707;GTI=0;LEN=1;MEANALT=2;MQM=32.2729;MQMR=40.8571;NS=1;NUMALT=1;ODDS=1696.35;PAIRED=0.984593;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=40383;QR=622;RO=21;RPL=666;RPP=4.54132;RPPR=8.07707;RPR=697;RUN=1;SAF=609;SAP=36.5064;SAR=754;SF=0,1;SRF=9;SRP=3.94093;SRR=12;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2216;esp6500siv2_ea=0.2652;esp6500siv2_all=0.2216;esp6500siv2_ea=0.2652;1000g2015aug_all=0.191893;avsnp147=rs72860297;Kaviar_AF=0.0391198;Kaviar_AC=6048;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0863;dpsi_zscore=1.572;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.2213;gnomAD_genome_AFR=0.1343;gnomAD_genome_AMR=0.1779;gnomAD_genome_ASJ=0.2467;gnomAD_genome_EAS=0.2320;gnomAD_genome_FIN=0.2307;gnomAD_genome_NFE=0.2669;gnomAD_genome_OTH=0.2300;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-3030.54,-361.612,0:1402:21:1363:40383:622 . . 0/1:-806.454,0,-1043.67:1035:518:509:14208:15699 . 0/1:-1413.5,0,-1732.91:1777:877:886:25593:26242 . . . 0/1:-1267.77,0,-1765.36:1669:873:791:22871:26302 . . . . . . 0/1:-954.839,0,-1161.6:1241:600:636:17729:17763 . . . . . 0/1:-666.131,0,-907.778:935:472:454:12668:13799 . . 0/1:-805.387,0,-1226.61:1219:646:559:15473:19465 0/1:-1188.58,0,-1602.81:1529:804:718:21019:23934 . 0/1:-869.449,0,-1157.22:1216:604:602:16495:17892 . . . . . . 0/1:-1465.4,0,-1721.2:1786:869:897:25908:26043 0/1:-1398.91,0,-1167.23:1455:636:809:23820:18651 . . . . . . 0/1:-1295.62,0,-1339.19:1507:721:780:22181:21545 . . . 0/1:-727.881,0,-756.931:838:395:437:12588:11770 0/1:-904.368,0,-1284.15:1208:632:574:16603:18988 . . . . . . 0/1:-1025.15,0,-1047.03:1167:568:592:17569:17024 . 0/1:-654.669,0,-1044.81:953:515:424:12263:15491 0/1:-1121.17,0,-1052.71:1208:557:641:18895:16488 . 0/1:-766.662,0,-1082.2:1059:556:499:14240:16242 . . . . . 0/1:-595.324,0,-984.451:966:527:431:12014:15704 0/1:-1495.28,0,-1735.15:1769:878:873:25926:26377 . . . . 1/1:-4149.93,-479.117,0:1920:43:1859:55225:1123 . . . 0/1:-1477.38,0,-1551.2:1671:792:866:25346:23712 . . 0/1:-890.594,0,-902.135:1015:474:532:15513:14064 . 0/1:-1381.99,0,-1517.75:1675:811:851:24377:24348 . 0/1:-1139.91,0,-1702.49:1574:836:728:20731:25120 0/1:-1143.4,0,-1107.14:1283:583:685:19885:17255 0/1:-1014.76,0,-1420.51:1372:713:652:18517:21181 0/1:-899.136,0,-1188.35:1154:593:554:15800:17884 . . 0/1:-1191.97,0,-1680.14:1605:824:771:21846:25212 . 0/1:-1215.74,0,-1133.21:1315:593:716:20850:17647 0/1:-1691.24,0,-2159.66:2113:1069:1031:30065:32246 . . . 0/1:-999.469,0,-1305.02:1142:597:537:16588:19012:597,537 0/1:-1018.56,0,-1335.72:1161:605:554:17230:19317:605,554 . 0/1:-591.831,0,-865.77:723:384:334:10207:12391:384,334 0/1:-976.572,0,-1067.31:1020:506:511:15966:16154:506,511 0/1:-1340.1,0,-1722.99:1510:787:718:22691:25122:787,718 0/1:-1051.19,0,-1181.87:1125:554:564:17309:17515:554,564 0/1:-1111.58,0,-1174.18:1163:570:588:18559:18134:570,588 . . . . . . 0/1:-1080.29,0,-1551.57:1294:704:589:18226:22370:704,589 . 0/1:-1227.47,0,-1563.21:1382:717:660:20776:22831:717,660 . 0/1:-1028.39,0,-1351.03:1146:605:537:16986:19508:605,537 . chr18 3174076 . AACACACACACACT AACACACACACACACT,AACACACACATACACT 7291.68 . AB=0;ABP=0;AC=44,6;AF=1;AN=82;AO=896;CIGAR=1M2I13M;DP=49635;DPB=1589.14;DPRA=0;EPP=313.618;EPPR=29.2231;GTI=0;LEN=2;MEANALT=126;MQM=33.4051;MQMR=36.7679;NS=1;NUMALT=1;ODDS=1174.9;PAIRED=0.993304;PAIREDR=1;PAO=134;PQA=4173;PQR=4173;PRO=134;QA=21412;QR=1688;RO=56;RPL=512;RPP=42.7172;RPPR=3.63072;RPR=384;RUN=1;SAF=401;SAP=24.4245;SAR=495;SF=0,1;SRF=19;SRP=15.5738;SRR=37;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2556;esp6500siv2_ea=0.2591;esp6500siv2_all=0.2556;esp6500siv2_ea=0.2591;1000g2015aug_all=0.233427;avsnp147=rs150558788;Kaviar_AF=0.0141913;Kaviar_AC=2194;Kaviar_AN=154602;ExAC_ALL=0.2353;ExAC_AFR=0.2556;ExAC_AMR=0.1654;ExAC_EAS=0.2413;ExAC_FIN=0.2144;ExAC_NFE=0.2490;ExAC_OTH=0.1836;ExAC_SAS=0.2254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2332;gnomAD_exome_AFR=0.2598;gnomAD_exome_AMR=0.1702;gnomAD_exome_ASJ=0.2343;gnomAD_exome_EAS=0.2418;gnomAD_exome_FIN=0.2161;gnomAD_exome_NFE=0.2526;gnomAD_exome_OTH=0.2287;gnomAD_exome_SAS=0.2265;gnomAD_genome_ALL=0.2588;gnomAD_genome_AFR=0.2678;gnomAD_genome_AMR=0.1959;gnomAD_genome_ASJ=0.2551;gnomAD_genome_EAS=0.2323;gnomAD_genome_FIN=0.2309;gnomAD_genome_NFE=0.2682;gnomAD_genome_OTH=0.2377;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0856;esp6500siv2_ea=0.0564;esp6500siv2_all=0.0856;esp6500siv2_ea=0.0564;1000g2015aug_all=0.0810703;avsnp147=rs150558788;Kaviar_AF=0.0020051;Kaviar_AC=310;Kaviar_AN=154602;ExAC_ALL=0.0655;ExAC_AFR=0.1478;ExAC_AMR=0.0365;ExAC_EAS=0.0070;ExAC_FIN=0.0798;ExAC_NFE=0.0610;ExAC_OTH=0.0802;ExAC_SAS=0.0794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0642;gnomAD_exome_AFR=0.1557;gnomAD_exome_AMR=0.0400;gnomAD_exome_ASJ=0.0837;gnomAD_exome_EAS=0.0059;gnomAD_exome_FIN=0.0763;gnomAD_exome_NFE=0.0595;gnomAD_exome_OTH=0.0679;gnomAD_exome_SAS=0.0795;gnomAD_genome_ALL=0.0815;gnomAD_genome_AFR=0.1528;gnomAD_genome_AMR=0.0562;gnomAD_genome_ASJ=0.0728;gnomAD_genome_EAS=0.0130;gnomAD_genome_FIN=0.0699;gnomAD_genome_NFE=0.0536;gnomAD_genome_OTH=0.0552;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1691.42,-306.695,0,.,.,.:1245:56:896,.:21412,.:1688 . . 0/1:-320.354,0,-749.74,.,.,.:922:395:327,.:7600,.:12333 . 0/1:-568.168,0,-1191.66,.,.,.:1588:658:578,.:13523,.:20334 . . . 0/1:-519.439,0,-1274.55,.,.,.:1540:665:516,.:12264,.:20655 . . . . . . 0/1:-335.37,0,-822.35,.,.,.:1124:455:377,.:8559,.:13948 . . . . . 0/1:-269.868,0,-679.311,.,.,.:868:354:285,.:6548,.:10978 . . 1/2:-1436.2,-1015.1,-884.015,-462.501,0,-252.495:1075:28:326,423:7213,9933:797 0/1:-476.558,0,-1117.82,.,.,.:1347:596:474,.:11372,.:18474 . 0/1:-286.909,0,-843.228,.,.,.:1117:460:356,.:7908,.:14150 . . . . . . 0/1:-567.831,0,-1265.24,.,.,.:1589:668:554,.:13069,.:20720 0/1:-700.82,0,-938.369,.,.,.:1330:505:554,.:13272,.:15686 . . . . . . 1/2:-1981.09,-1263.45,-1085.12,-762.962,0,-521.193:1299:40:482,482:11557,12187:1192 . . . 0/1:-363.694,0,-565.815,.,.,.:768:301:292,.:7167,.:9373 0/1:-363.518,0,-991.371,.,.,.:1109:499:361,.:8603,.:15547 . . . . . . 1/1:-1541.8,-263.335,0,.,.,.:1044:37:770,.:18859,.:1125 . 0/1:-211.969,0,-758.892,.,.,.:857:394:259,.:5913,.:12111 0/1:-526.151,0,-819.103,.,.,.:1110:436:421,.:10211,.:13470 . 0/1:-274.725,0,-777.028,.,.,.:954:408:304,.:6918,.:12494 . . . . . 1/2:-1258.4,-867.48,-781.088,-402.69,0,-252.128:878:26:274,350:6339,8548:758 0/1:-734.464,0,-1338.25,.,.,.:1619:700:615,.:15106,.:21849 . . . . 1/1:-2377.6,-409.779,0,.,.,.:1708:72:1275,.:29808,.:2160 . . . 0/1:-641.088,0,-1206.13,.,.,.:1537:639:577,.:13641,.:19873 . . 0/1:-393.182,0,-693.152,.,.,.:928:374:355,.:8529,.:11779 . 1/2:-2214.36,-1380.86,-1201.41,-861.569,0,-613.239:1458:50:553,552:13239,13391:1500 . 0/1:-493.283,0,-1319.77,.,.,.:1431:666:484,.:11661,.:20902 0/1:-460.549,0,-774.027,.,.,.:1154:446:439,.:10169,.:13615 0/1:-353.835,0,-999.593,.,.,.:1216:526:398,.:9229,.:16421 0/1:-377.982,0,-946.346,.,.,.:1066:483:354,.:8584,.:15022 . . 0/1:-502.991,0,-1211.57,.,.,.:1447:629:491,.:11717,.:19587 . 0/1:-543.873,0,-848.601,.,.,.:1171:464:477,.:11244,.:14432 0/1:-767.477,0,-1584.26,.,.,.:1923:830:703,.:16910,.:25760 . . . 0/1:-576.292,0,-1093.63,.,.,.:1095:484:390,.:9784,.:15490:484,390 0/1:-629.202,0,-1104.98,.,.,.:1126:491:415,.:10464,.:15663:491,415 . 0/1:-344.55,0,-711.601,.,.,.:676:315:236,.:5909,.:9957:315,236 1/2:-1303.47,-718.98,-535.787,-660.237,0,-475.78:983:25:382,386:9608,10145:785:25,382,386 0/1:-778.697,0,-1528.24,.,.,.:1461:674:525,.:13277,.:21487:674,525 0/1:-601.615,0,-1065.57,.,.,.:1099:480:399,.:10055,.:15186:480,399 1/2:-1372.85,-712.848,-539.489,-715.385,0,-550.154:1100:35:427,400:10741,10388:1086:35,427,400 . . . . . . 0/1:-588.025,0,-1296.45,.,.,.:1229:572:409,.:10306,.:18148:572,409 . 0/1:-699.257,0,-1372.48,.,.,.:1344:607:473,.:11898,.:19326:607,473 . 0/1:-641.811,0,-1110.09,.,.,.:1100:496:410,.:10581,.:15778:496,410 . chr18 3174084 . CA CATA 8069.18 . AB=0.360755;ABP=252.765;AC=8;AF=0.5;AN=16;AO=535;CIGAR=1M2I1M;DP=12792;DPB=2033;DPRA=0;EPP=121.694;EPPR=174.695;GTI=0;LEN=2;MEANALT=13;MQM=38.1121;MQMR=40.386;NS=1;NUMALT=1;ODDS=1600.81;PAIRED=0.975701;PAIREDR=0.97549;PAO=8;PQA=64;PQR=64;PRO=8;QA=13358;QR=24907;RO=816;RPL=291;RPP=11.9762;RPPR=40.0637;RPR=244;RUN=1;SAF=223;SAP=35.1603;SAR=312;SF=0;SRF=416;SRP=3.69155;SRR=400;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-732.223,0,-1745.2:1483:816:535:13358:24907 . . . . . 0/1:-684.269,0,-1524:1412:713:493:12269:21842 . . . . . . . . . . . . . . . . . 0/1:-920.945,0,-2024.42:1858:957:679:16638:28966 . . . . . . . . . . . . . . . . . . . . 0/1:-1026.83,0,-1817.99:1794:864:719:17753:26599 0/1:-704.014,0,-1367.26:1337:678:500:12640:20308 . . . . . . . . . . . . . . . 0/1:-727.951,0,-1548.57:1450:742:525:12960:22687 . . . . . . . . . . . . . . . . 0/1:-901.498,0,-1836.06:1699:882:640:15879:26618 . . . . . . 0/1:-1052.52,0,-1679.82:1759:825:731:17898:25234 . . . . . . . . . . . . . . . . . . . . . chr18 3174238 . G A 9802.90 . AB=0.517528;ABP=5.90293;AC=8;AF=0.5;AN=16;AO=561;CIGAR=1X;DP=8396;DPB=1084;DPRA=0;EPP=4.71729;EPPR=10.2962;GTI=0;LEN=1;MEANALT=3;MQM=38.918;MQMR=40.1178;NS=1;NUMALT=1;ODDS=2271.83;PAIRED=0.955437;PAIREDR=0.99002;PAO=0;PQA=0;PQR=0;PRO=0;QA=16842;QR=15352;RO=501;RPL=221;RPP=57.8235;RPPR=42.1271;RPR=340;RUN=1;SAF=223;SAP=54.2005;SAR=338;SF=0;SRF=202;SRP=43.7915;SRR=299;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0198;esp6500siv2_ea=0.0269;esp6500siv2_all=0.0198;esp6500siv2_ea=0.0269;1000g2015aug_all=0.00958466;avsnp147=rs78567624;Kaviar_AF=0.0211834;Kaviar_AC=3275;Kaviar_AN=154602;ExAC_ALL=0.0220;ExAC_AFR=0.0037;ExAC_AMR=0.0083;ExAC_EAS=0.0001;ExAC_FIN=0.0376;ExAC_NFE=0.0310;ExAC_OTH=0.0223;ExAC_SAS=0.0108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0195;dpsi_zscore=0.132;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0209;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0076;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0371;gnomAD_exome_NFE=0.0297;gnomAD_exome_OTH=0.0229;gnomAD_exome_SAS=0.0117;gnomAD_genome_ALL=0.0189;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0389;gnomAD_genome_NFE=0.0245;gnomAD_genome_OTH=0.0265;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-1108.23,0,-1004.09:1084:501:561:16842:15352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1281.2,0,-1264.42:1300:633:645:19494:19291 . . 0/1:-1180.73,0,-1219.72:1218:601:599:18178:18352 . . . . . 0/1:-674.118,0,-805.431:777:408:349:10584:12393 . . . . . . . . . . . . . . . . . . . 0/1:-707.522,0,-705.407:729:356:362:10901:10718 0/1:-582.494,0,-623.77:633:315:309:9180:9683 0/1:-1077.87,0,-1225.05:1164:592:548:16666:18451 . . . . . . . . . 0/1:-1372.52,0,-1650.57:1491:788:679:21115:24521 . . . . . . . . . . . . . . . . . . . . . . . . . chr18 3176017 . C T 9644.07 . AB=0;ABP=0;AC=43;AF=1;AN=82;AO=865;CIGAR=1X;DP=44682;DPB=902;DPRA=0;EPP=8.0938;EPPR=3.20771;GTI=0;LEN=1;MEANALT=3;MQM=37.2555;MQMR=40;NS=1;NUMALT=1;ODDS=1094.56;PAIRED=0.950289;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=25457;QR=365;RO=11;RPL=380;RPP=30.6872;RPPR=3.20771;RPR=485;RUN=1;SAF=667;SAP=555.194;SAR=198;SF=0,1;SRF=8;SRP=7.94546;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2085;esp6500siv2_ea=0.2556;esp6500siv2_all=0.2085;esp6500siv2_ea=0.2556;1000g2015aug_all=0.191693;avsnp147=rs17177479;Kaviar_AF=0.212591;Kaviar_AC=32867;Kaviar_AN=154602;ExAC_ALL=0.2271;ExAC_AFR=0.1226;ExAC_AMR=0.1698;ExAC_EAS=0.2462;ExAC_FIN=0.2201;ExAC_NFE=0.2501;ExAC_OTH=0.1724;ExAC_SAS=0.2294;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0835;dpsi_zscore=0.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2132;gnomAD_exome_AFR=0.1126;gnomAD_exome_AMR=0.1548;gnomAD_exome_ASJ=0.2179;gnomAD_exome_EAS=0.2355;gnomAD_exome_FIN=0.2092;gnomAD_exome_NFE=0.2417;gnomAD_exome_OTH=0.2110;gnomAD_exome_SAS=0.2146;gnomAD_genome_ALL=0.2174;gnomAD_genome_AFR=0.1265;gnomAD_genome_AMR=0.1754;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.2324;gnomAD_genome_FIN=0.2311;gnomAD_genome_NFE=0.2665;gnomAD_genome_OTH=0.2296;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2072.37,-232.708,0:902:11:865:25457:365 . . 0/1:-709.877,0,-830.42:797:399:381:11304:12438 . 0/1:-1405.37,0,-1920.77:1706:910:764:22949:28559 . . . 0/1:-1029.2,0,-1715.96:1392:794:578:17201:25067 . . . . . . 0/1:-824.6,0,-989.135:978:504:456:13506:15263 . . . . . 0/1:-579.28,0,-813.925:736:393:320:9636:12135 . . 0/1:-821.474,0,-1054.35:1013:544:453:13455:16885 0/1:-1063.74,0,-1536.31:1362:732:596:17430:22794 . 0/1:-771.026,0,-1136.37:1020:554:439:12832:17087 . . . . . . 0/1:-1243.65,0,-1637.71:1528:795:698:20084:24896 0/1:-1235.39,0,-1266.25:1315:627:657:19348:19241 . . . . . . 0/1:-999.861,0,-1421.22:1250:682:538:16161:21136 . . . 0/1:-623.484,0,-803.533:733:383:339:10012:11958 0/1:-833.145,0,-1365.25:1108:630:457:13768:19956 . . . . . . 0/1:-869.329,0,-1216.48:1079:583:480:14410:18188 . 0/1:-567.325,0,-806.722:762:402:338:9719:12342 0/1:-912.843,0,-918.786:973:470:481:14309:14242 . 0/1:-643.322,0,-976.26:866:468:371:11078:14532 . . . . . 0/1:-494.208,0,-687.809:654:354:281:8400:10906 0/1:-945.196,0,-1333.1:1214:665:529:15430:20047 . . . . 1/1:-2849.56,-325.408,0:1191:11:1151:34161:318 . . . 0/1:-1211.06,0,-1626.87:1497:800:667:19750:24597 . . 0/1:-703.713,0,-985.176:896:470:396:11664:14819 . 0/1:-1472.98,0,-1522.96:1561:766:765:23089:23843 . 0/1:-1003.17,0,-1245.62:1164:597:541:16141:18730 0/1:-1067.16,0,-1261.27:1231:618:591:17269:19185 0/1:-1101.13,0,-1172.86:1174:576:574:17237:17901 0/1:-764.461,0,-942.251:872:452:405:12227:14085 . . 0/1:-902.579,0,-1376.32:1171:653:492:14949:20562 . 0/1:-992.038,0,-1393.15:1237:660:553:16150:20620 0/1:-1332.31,0,-1758.24:1583:815:727:21482:25747 . . . 0/1:-1281.9,0,-1560.07:1337:704:616:19561:22704:704,616 0/1:-964.089,0,-1201.41:1007:534:462:14570:17284:534,462 . 0/1:-642.348,0,-848.883:710:387:312:9883:12317:387,312 0/1:-810.706,0,-984.525:861:454:398:12635:14513:454,398 0/1:-899.422,0,-1285.52:1004:563:433:13963:18279:563,433 0/1:-890.654,0,-1178.35:972:534:423:13661:17092:534,423 0/1:-931.907,0,-1079.89:963:513:442:14202:16009:513,442 . . . . . . 0/1:-870.321,0,-1274.08:1004:568:424:13507:18343:568,424 . 0/1:-989.807,0,-1337.82:1080:590:481:15310:19128:590,481 . 0/1:-706.283,0,-955.043:779:433:342:10933:13808:433,342 . chr18 3176040 . C G 21818.24 . AB=0;ABP=0;AC=154;AF=1;AN=204;AO=972;CIGAR=1X;DP=135975;DPB=1013;DPRA=0;EPP=4.09157;EPPR=24.725;GTI=0;LEN=1;MEANALT=3;MQM=37.8272;MQMR=31;NS=1;NUMALT=1;ODDS=1284.99;PAIRED=0.957819;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=27946;QR=212;RO=10;RPL=435;RPP=26.2531;RPPR=16.9077;RPR=537;RUN=1;SAF=700;SAP=412.248;SAR=272;SF=0,1;SRF=9;SRP=16.9077;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G1022C:p.G341A,MYOM1:NM_019856:exon6:c.G1022C:p.G341A;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.7456;esp6500siv2_ea=0.7156;esp6500siv2_all=0.7456;esp6500siv2_ea=0.7156;1000g2015aug_all=0.757188;avsnp147=rs8099021;Kaviar_AF=0.72391;Kaviar_AC=111918;Kaviar_AN=154602;ExAC_ALL=0.7384;ExAC_AFR=0.7990;ExAC_AMR=0.7797;ExAC_EAS=0.7506;ExAC_FIN=0.7606;ExAC_NFE=0.7042;ExAC_OTH=0.7387;ExAC_SAS=0.7961;CLNALLELEID=230883;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.798;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.943;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.02;MutationAssessor_pred=N;FATHMM_score=-0.78;FATHMM_pred=T;PROVEAN_score=0.68;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-1.049;CADD_phred=0.013;DANN_score=0.223;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.601;integrated_confidence_value=0;GERP++_RS=1.97;phyloP7way_vertebrate=-1.384;phyloP20way_mammalian=-0.313;phastCons7way_vertebrate=0.691;phastCons20way_mammalian=0.306;SiPhy_29way_logOdds=14.746;GDI_full_10282015=.;dpsi_max_tissue=-0.8534;dpsi_zscore=-1.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7431;gnomAD_exome_AFR=0.8056;gnomAD_exome_AMR=0.7748;gnomAD_exome_ASJ=0.6965;gnomAD_exome_EAS=0.7516;gnomAD_exome_FIN=0.7706;gnomAD_exome_NFE=0.7079;gnomAD_exome_OTH=0.7388;gnomAD_exome_SAS=0.7960;gnomAD_genome_ALL=0.7593;gnomAD_genome_AFR=0.8089;gnomAD_genome_AMR=0.7363;gnomAD_genome_ASJ=0.6954;gnomAD_genome_EAS=0.7395;gnomAD_genome_FIN=0.7791;gnomAD_genome_NFE=0.7326;gnomAD_genome_OTH=0.7291;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2325.88,-277.463,0:1013:10:972:27946:212 1/1:-4093.42,-471.3,0:1728:19:1664:48137:452 . 0/1:-795.36,0,-778.564:893:426:434:12416:12159 0/1:-1350.32,0,-1382.9:1541:759:726:21052:21551 1/1:-4521.28,-526.313,0:1930:22:1864:53665:507 0/1:-1200.22,0,-1095.3:1257:574:627:18354:16841 0/1:-1440.5,0,-1679.24:1734:884:792:22556:25492 1/1:-2915.81,-332.652,0:1241:14:1189:34587:342 0/1:-1211.87,0,-1648.59:1590:843:684:19818:24638 0/1:-1183.24,0,-1284.87:1391:685:662:18685:19834 1/1:-3319.22,-391.454,0:1414:10:1369:39409:293 0/1:-1168.07,0,-1155.7:1330:630:640:18149:17982 0/1:-1041.96,0,-1065.06:1213:575:589:16521:16629 1/1:-2721.89,-310.223,0:1137:12:1091:32158:270 0/1:-1842.21,0,-2055.8:2132:1069:997:28645:31200 0/1:-933.879,0,-1010.34:1098:537:519:15059:15756 . . 0/1:-938.934,0,-960.364:1067:520:517:14741:15091 0/1:-980.069,0,-958.441:1092:515:529:15074:14790 1/1:-3992.93,-476.093,0:1668:7:1613:46764:138 1/1:-1888.57,-210.254,0:822:15:782:22707:347 1/1:-4424.82,-503.489,0:1849:18:1784:52191:438 0/1:-1497.87,0,-1586.02:1711:847:799:23166:24465 1/1:-2642.99,-315.456,0:1145:10:1103:32025:246 0/1:-1163.23,0,-1521.79:1500:777:659:19046:22647 1/1:-3745.86,-445.497,0:1579:8:1522:44072:170 0/1:-812.441,0,-1057.81:1122:578:491:13522:16279 0/1:-933.343,0,-827.399:970:446:483:14071:13008 1/1:-2976.38,-348.837,0:1269:9:1222:35195:267 . 0/1:-1451.86,0,-1300.97:1546:694:793:22500:20518 0/1:-1020.32,0,-1216.65:1287:639:590:16435:18700 1/1:-3553.61,-418.34,0:1444:5:1414:41508:99 1/1:-3853.52,-429.817,0:1685:29:1611:45911:741 0/1:-1390.63,0,-1235.9:1439:655:745:21566:19248 0/1:-1171.52,0,-1150.12:1255:600:619:18025:17541 1/1:-3387.23,-391.945,0:1452:14:1403:40027:403 . 1/1:-4231.4,-490.337,0:1758:17:1699:49710:333 0/1:-1212.92,0,-1431.62:1457:749:666:19162:21646 0/1:-1284.56,0,-1215.15:1354:645:668:19617:18612 1/1:-3220.08,-386.369,0:1334:4:1299:37980:78 1/1:-3950.63,-448.881,0:1622:15:1574:46501:387 0/1:-1616.37,0,-1333.95:1628:729:841:24353:20998 0/1:-1462.14,0,-1272.29:1527:700:770:22354:20100 1/1:-1906.94,-229.351,0:794:2:772:22284:41 0/1:-922.907,0,-1294.94:1240:669:529:15217:19326 0/1:-1644.11,0,-1588.91:1750:832:853:25220:24133 1/1:-3674.34,-413.76,0:1565:19:1496:43530:489 . . 1/1:-4113.72,-478.484,0:1752:19:1698:48449:470 0/1:-1120.83,0,-882.416:1162:499:624:17415:14466 1/1:-2723.25,-317.047,0:1154:11:1112:32367:238 0/1:-1430.01,0,-1402.03:1570:747:758:21750:21562 1/1:-1975.3,-242.249,0:853:5:826:23829:110 0/1:-967.128,0,-874.77:1045:483:521:14951:13849 1/1:-3389.64,-398.005,0:1508:19:1440:40246:487 0/1:-689.222,0,-1004.69:992:524:429:11917:15050 . 1/1:-3260.6,-379.113,0:1363:11:1326:38547:269 1/1:-2487.74,-295.816,0:1095:15:1052:29863:321 . 1/1:-3826.46,-444.016,0:1608:13:1554:45210:319 1/1:-1681.35,-194.427,0:766:11:717:20485:304 1/1:-3236.42,-375.391,0:1378:14:1324:38149:316 0/1:-1184.47,0,-1084.95:1284:579:654:18349:16934 1/1:-3498.18,-393.882,0:1535:28:1468:41799:663 0/1:-1489.03,0,-1240.73:1507:681:789:22736:19614 1/1:-4542.15,-519.547,0:1887:15:1819:53421:368 1/1:-3165.96,-368.399,0:1337:12:1289:37527:270 0/1:-845.079,0,-903.371:1086:523:511:13761:14460 1/1:-2998.54,-353.8,0:1249:6:1207:35092:128 . 1/1:-3717.75,-444.205,0:1606:12:1545:44107:277 1/1:-3797.18,-438.813,0:1597:13:1541:44548:327 0/1:-820.559,0,-937.094:948:477:440:12896:14137 0/1:-858.924,0,-799.805:946:446:466:13470:12598 0/1:-1347.52,0,-1402.69:1530:744:726:21164:21610 1/1:-4111.04,-490.883,0:1737:9:1682:48823:209 1/1:-4443.53,-521.087,0:1855:10:1795:52242:253 0/1:-1075.09,0,-1268.05:1309:667:598:17252:19155 1/1:-3140.14,-377.809,0:1360:9:1303:37304:205 0/1:-1193.99,0,-1130.03:1277:596:631:18454:17480 0/1:-835.058,0,-899.635:975:482:460:13252:13815 0/1:-1379.74,0,-1439.83:1607:778:766:21810:22314 1/1:-2207.04,-261.882,0:921:4:887:25744:91 1/1:-3180.54,-370.008,0:1342:11:1297:37739:288 . 0/1:-1090.85,0,-1273.48:1317:679:608:17504:19445 0/1:-1444.64,0,-1702.66:1740:884:798:23038:25465 1/1:-3932.56,-441.543,0:1681:24:1614:46568:600 1/1:-4087.42,-475.062,0:1742:16:1667:48102:392 . 1/1:-3841.02,-413.537,0:1474:10:1441:44636:317:10,1441 0/1:-1126.72,0,-1156.39:1149:572:544:16903:17191:572,544 1/1:-3241.32,-348.927,0:1220:8:1198:37356:159:8,1198 1/1:-1933.41,-207.596,0:753:6:734:22385:172:6,734 1/1:-2532.63,-281.837,0:985:3:951:29639:60:3,951 0/1:-1045.1,0,-1308.36:1173:619:520:16025:18952:619,520 0/1:-1038.79,0,-1182.53:1121:582:509:15833:17452:582,509 1/1:-2821.94,-306.487,0:1090:7:1071:33050:204:7,1071 0/1:-1133.49,0,-1200.68:1155:578:548:17021:17628:578,548 0/1:-1096.31,0,-1292.78:1200:635:538:16838:18940:635,538 1/1:-3283.01,-343.694,0:1293:15:1257:38464:444:15,1257 1/1:-2401.42,-260.435,0:918:5:899:27815:132:5,899 0/1:-1035.18,0,-1080.74:1055:526:503:15452:15988:526,503 1/1:-2600.97,-285.453,0:986:3:964:30070:64:3,964 0/1:-1011.69,0,-1220.54:1133:604:500:15484:17980:604,500 . 1/1:-3231.04,-352.896,0:1232:5:1206:37382:132:5,1206 0/1:-842.306,0,-1100.37:973:530:422:12973:15986:530,422 1/1:-2286.06,-247.829,0:871:4:855:26571:122:4,855 . chr18 3176063 . C T 14764.36 . AB=0;ABP=0;AC=57;AF=1;AN=98;AO=1024;CIGAR=1X;DP=63118;DPB=1058;DPRA=0;EPP=10.6444;EPPR=3.15506;GTI=0;LEN=1;MEANALT=3;MQM=38.4883;MQMR=41.8667;NS=1;NUMALT=1;ODDS=1272.89;PAIRED=0.967773;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=31037;QR=493;RO=15;RPL=383;RPP=144.164;RPPR=6.62942;RPR=641;RUN=1;SAF=675;SAP=228.377;SAR=349;SF=0,1;SRF=9;SRP=4.31318;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G999A:p.G333G,MYOM1:NM_019856:exon6:c.G999A:p.G333G;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2940;esp6500siv2_ea=0.3116;esp6500siv2_all=0.2940;esp6500siv2_ea=0.3116;1000g2015aug_all=0.273163;avsnp147=rs2230162;Kaviar_AF=0.282008;Kaviar_AC=43599;Kaviar_AN=154602;ExAC_ALL=0.2861;ExAC_AFR=0.2650;ExAC_AMR=0.1955;ExAC_EAS=0.2464;ExAC_FIN=0.2904;ExAC_NFE=0.3057;ExAC_OTH=0.2523;ExAC_SAS=0.3034;CLNALLELEID=230884;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3491;dpsi_zscore=0.958;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2829;gnomAD_exome_AFR=0.2704;gnomAD_exome_AMR=0.1980;gnomAD_exome_ASJ=0.3056;gnomAD_exome_EAS=0.2455;gnomAD_exome_FIN=0.2891;gnomAD_exome_NFE=0.3079;gnomAD_exome_OTH=0.2853;gnomAD_exome_SAS=0.2997;gnomAD_genome_ALL=0.2992;gnomAD_genome_AFR=0.2791;gnomAD_genome_AMR=0.2315;gnomAD_genome_ASJ=0.3179;gnomAD_genome_EAS=0.2435;gnomAD_genome_FIN=0.3008;gnomAD_genome_NFE=0.3207;gnomAD_genome_OTH=0.2859;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2581.41,-269.266,0:1058:15:1024:31037:493 . . 0/1:-814.462,0,-953.722:895:455:422:12928:14220 . 0/1:-1673.42,0,-2095.09:1935:1007:875:26549:31165 . . 0/1:-1178.23,0,-1318.77:1250:628:600:18079:19758 0/1:-1359.1,0,-1928.2:1682:924:724:21997:28360 . . . . 0/1:-1206.96,0,-1099.96:1189:550:606:18450:17041 . 0/1:-1059.39,0,-1224.62:1184:603:558:16955:18428 . . . . . 0/1:-673.938,0,-994.505:868:478:377:11160:14568 . . 1/1:-3005.38,-344.912,0:1233:9:1209:36194:254 0/1:-1272.12,0,-1621:1473:780:670:20318:23993 . 0/1:-1001.35,0,-1165.6:1117:564:523:15794:17552 . . . 0/1:-1480.13,0,-1549.26:1582:758:784:22915:23395 . . 0/1:-1500.62,0,-1807.71:1679:869:773:23479:27052 0/1:-1521.68,0,-1239.98:1394:618:752:22947:19199 . . . . . . 1/1:-3452.26,-367.086,0:1376:16:1343:40846:497 . . . 0/1:-739.457,0,-874.394:817:425:377:11576:12924 0/1:-1007.95,0,-1501.27:1267:702:529:16358:21793 . . . . 0/1:-1676.25,0,-1740.92:1779:874:871:25928:26541 0/1:-1261.85,0,-1070.67:1246:563:649:19462:17017 0/1:-1127.46,0,-1227.64:1196:604:571:17595:18678 . 0/1:-766.817,0,-900.112:885:454:412:12427:13740 0/1:-1000.43,0,-998.629:1016:492:505:15314:15107 . 0/1:-805.322,0,-1149.43:1011:543:447:13364:16883 . . . . . 1/1:-1881.21,-195.739,0:803:18:770:23233:526 0/1:-1256.95,0,-1508.8:1392:720:641:19723:22360 . . 0/1:-1424.92,0,-1417.72:1450:695:716:21760:21600 . 1/1:-3632.31,-400.369,0:1442:12:1417:43173:354 . . . 0/1:-1488.74,0,-1710.97:1661:849:786:23315:25956 . . 0/1:-902.643,0,-914.535:956:456:475:14024:14066 . 1/1:-4397.12,-502.243,0:1794:16:1755:52393:418 . 0/1:-1216.93,0,-1423.94:1323:671:621:19035:21109 0/1:-1205.66,0,-1400.81:1351:681:638:19203:21120 0/1:-1282.23,0,-1271.27:1268:606:634:19583:19120 0/1:-903.373,0,-1086.95:1020:524:475:14213:16116 0/1:-1419.76,0,-1711.34:1589:829:729:22410:25595 . 0/1:-1224.99,0,-1603.46:1412:769:618:19477:23742 . 0/1:-1152.88,0,-1387.64:1285:657:603:18148:20509 0/1:-1586.34,0,-1928.26:1777:916:830:24964:28303 . 0/1:-1577.69,0,-1811.47:1744:879:828:24503:27228 . 0/1:-1505.04,0,-1714.04:1490:777:698:22704:24867:777,698 0/1:-1274.9,0,-1289.6:1198:592:590:18840:19104:592,590 . 0/1:-714.478,0,-905.995:759:410:341:10888:12996:410,341 1/1:-2804.17,-299.217,0:1043:4:1031:33067:140:4,1031 0/1:-1279.66,0,-1503.17:1287:678:594:19255:21607:678,594 0/1:-1138.7,0,-1392.71:1190:638:533:17284:20147:638,533 1/1:-3090.91,-311.254,0:1161:15:1140:36467:420:15,1140 . . . . . . 0/1:-1213.04,0,-1467.18:1256:674:566:18345:21329:674,566 . 0/1:-1326.05,0,-1609.73:1374:730:628:20201:23222:730,628 . 0/1:-869.095,0,-1144.15:961:525:424:13427:16441:525,424 . chr18 3188778 . C T 7715.37 . AB=0.421728;ABP=65.2177;AC=4;AF=0.5;AN=8;AO=493;CIGAR=1X;DP=4398;DPB=1169;DPRA=0;EPP=284.945;EPPR=387.031;GTI=0;LEN=1;MEANALT=3;MQM=34.2231;MQMR=34.9768;NS=1;NUMALT=1;ODDS=1583.14;PAIRED=0.819473;PAIREDR=0.835913;PAO=0;PQA=0;PQR=0;PRO=0;QA=13669;QR=18952;RO=646;RPL=284;RPP=27.7862;RPPR=7.36669;RPR=209;RUN=1;SAF=304;SAP=61.2613;SAR=189;SF=0,1;SRF=395;SRP=72.7125;SRR=251;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.G739A:p.E247K,MYOM1:NM_019856:exon4:c.G739A:p.E247K;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0056;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0056;1000g2015aug_all=0.00219649;avsnp147=rs139422575;Kaviar_AF=0.0040103;Kaviar_AC=620;Kaviar_AN=154602;ExAC_ALL=0.0047;ExAC_AFR=0.0014;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0079;ExAC_NFE=0.0059;ExAC_OTH=0.0105;ExAC_SAS=0.0018;CLNALLELEID=230886;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.97;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.718;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=0.87;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_pred=N;VEST3_score=0.81;CADD_raw=5.491;CADD_phred=26.2;DANN_score=0.999;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.028;MetaSVM_pred=T;MetaLR_score=0.119;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.84;phyloP7way_vertebrate=0.824;phyloP20way_mammalian=0.914;phastCons7way_vertebrate=0.900;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.735;GDI_full_10282015=.;dpsi_max_tissue=-0.0064;dpsi_zscore=-0.013;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1510353#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0044;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0037;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0070;gnomAD_exome_NFE=0.0062;gnomAD_exome_OTH=0.0047;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0034;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-737.849,0,-1143.55:1169:646:493:13669:18952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-993.182,0,-1446.61:1448:782:620:17565:23071 . . . . . . . 0/1:-775.664,0,-852.41:984:496:460:13107:14736 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-739.095,0,-794.153:797:392:389:11775:12446:392,389 . . . . . chr18 3188857 . A G,C 4095.05 . AB=0.441103;ABP=27.0543;AC=15,0;AF=0.5;AN=58;AO=352;CIGAR=1X;DP=15042;DPB=798;DPRA=0;EPP=29.8823;EPPR=44.203;GTI=0;LEN=1;MEANALT=3;MQM=29.9915;MQMR=33.8371;NS=1;NUMALT=1;ODDS=1005.8;PAIRED=0.892045;PAIREDR=0.877193;PAO=0;PQA=0;PQR=0;PRO=0;QA=9978;QR=12066;RO=399;RPL=281;RPP=275.061;RPPR=463.869;RPR=71;RUN=1;SAF=98;SAP=153.138;SAR=254;SF=0,1;SRF=120;SRP=140.597;SRR=279;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T660C:p.S220S,MYOM1:NM_019856:exon4:c.T660C:p.S220S;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0998;esp6500siv2_ea=0.0589;esp6500siv2_all=0.0998;esp6500siv2_ea=0.0589;1000g2015aug_all=0.0894569;avsnp147=rs2230166;Kaviar_AF=0.0124901;Kaviar_AC=1931;Kaviar_AN=154602;ExAC_ALL=0.0616;ExAC_AFR=0.1894;ExAC_AMR=0.0356;ExAC_EAS=0.0001;ExAC_FIN=0.0310;ExAC_NFE=0.0577;ExAC_OTH=0.0594;ExAC_SAS=0.0642;CLNALLELEID=230887;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0047;dpsi_zscore=-0.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0580;gnomAD_exome_AFR=0.1928;gnomAD_exome_AMR=0.0394;gnomAD_exome_ASJ=0.0892;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0299;gnomAD_exome_NFE=0.0557;gnomAD_exome_OTH=0.0609;gnomAD_exome_SAS=0.0616;gnomAD_genome_ALL=0.0814;gnomAD_genome_AFR=0.1848;gnomAD_genome_AMR=0.0573;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0290;gnomAD_genome_NFE=0.0462;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T660G:p.S220S,MYOM1:NM_019856:exon4:c.T660G:p.S220S;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0341;dpsi_zscore=0.220;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-492.307,0,-692.527,.,.,.:798:399:352,.:9978,.:12066 . . . . . . . . . . . . 0/1:-391.554,0,-472.937,.,.,.:573:277:266,.:7438,.:8323 . . . . . . 1/1:-1647.69,-217.8,0,.,.,.:856:11:801,.:22559,.:335 . . . 0/1:-241.576,0,-360.373,.,.,.:391:194:182,.:5048,.:6031 . . . . . . . 0/1:-405.357,0,-382.339,.,.,.:569:241:289,.:7985,.:6915 . . . 0/1:-453.548,0,-576.228,.,.,.:674:324:317,.:8754,.:9779 . . . . . . . . . . . . . . . 0/1:-530.217,0,-683.383,.,.,.:850:400:393,.:10584,.:12022 . . . . . 0/1:-490.289,0,-647.159,.,.,.:755:367:335,.:9615,.:11105 . . 0/1:-337.343,0,-576.889,.,.,.:627:306:280,.:7434,.:9461 . . . 0/1:-144.326,0,-225.267,.,.,.:241:121:111,.:3021,.:3701 . . . . . . . . . . . . . . 0/1:-641.798,0,-542.774,.,.,.:803:338:417,.:11544,.:10144 . . . . . . . . . . . 0/1:-513.919,0,-631.809,.,.,.:765:361:365,.:9759,.:11130 . . 0/0:0,.,.,-108.218,.,-1044.79:482:450:.,25:.,465:13733:450,25 0/0:0,.,.,-102.162,.,-1000.51:464:431:.,29:.,487:13033:431,29 0/0:0,.,.,-89.5115,.,-1010.92:475:431:.,35:.,623:13372:431,35 0/0:0,.,.,-48.3773,.,-479.037:247:227:.,20:.,323:6805:227,20 0/1:-377.31,0,-351.586,.,.,.:445:196:222,.:6409,.:5938:196,222 0/0:0,.,.,-102.621,.,-1048.43:490:454:.,34:.,581:13697:454,34 0/0:0,.,.,-93.7076,.,-943.652:449:410:.,34:.,561:12614:410,34 0/1:-340.77,0,-404.373,.,.,.:461:224:214,.:6187,.:6768:224,214 . 0/0:0,.,.,-90.6278,.,-1032.25:480:440:.,36:.,666:13549:440,36 . 0/0:0,.,.,-80.5149,.,-778.985:361:337:.,20:.,338:10327:337,20 0/0:0,.,.,-94.4256,.,-897.949:420:392:.,23:.,425:12010:392,23 0/0:0,.,.,-81.3984,.,-791.125:367:338:.,22:.,381:10232:338,22 . 0/0:0,.,.,-84.1371,.,-819.904:371:346:.,23:.,383:10600:346,23 0/0:0,.,.,-101.849,.,-976.995:449:421:.,25:.,409:12671:421,25 0/0:0,.,.,-84.2547,.,-830.426:382:355:.,23:.,367:10703:355,23 0/0:0,.,.,-68.0353,.,-732.91:358:327:.,30:.,555:9778:327,30 0/0:0,.,.,-94.1291,.,-939.861:439:407:.,26:.,479:12193:407,26 chr18 3188873 . G A,T 2940.90 . AB=0.411095;ABP=51.2738;AC=13,0;AF=0.5;AN=54;AO=289;CIGAR=1X;DP=12363;DPB=703;DPRA=0;EPP=95.5872;EPPR=114.063;GTI=0;LEN=1;MEANALT=3;MQM=28.0208;MQMR=33.1662;NS=1;NUMALT=1;ODDS=681.335;PAIRED=0.899654;PAIREDR=0.899183;PAO=0;PQA=0;PQR=0;PRO=0;QA=8001;QR=10920;RO=367;RPL=240;RPP=277.119;RPPR=560.665;RPR=49;RUN=1;SAF=88;SAP=98.9533;SAR=201;SF=0,1;SRF=117;SRP=107.673;SRR=250;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.C644T:p.T215M,MYOM1:NM_019856:exon4:c.C644T:p.T215M;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0821;esp6500siv2_ea=0.0586;esp6500siv2_all=0.0821;esp6500siv2_ea=0.0586;1000g2015aug_all=0.0716853;avsnp147=rs2230165;Kaviar_AF=0.055562;Kaviar_AC=8590;Kaviar_AN=154602;ExAC_ALL=0.0565;ExAC_AFR=0.1390;ExAC_AMR=0.0291;ExAC_EAS=0.0001;ExAC_FIN=0.0312;ExAC_NFE=0.0573;ExAC_OTH=0.0535;ExAC_SAS=0.0639;CLNALLELEID=230888;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.133;SIFT_pred=T;Polyphen2_HDIV_score=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.432;Polyphen2_HVAR_pred=B;LRT_score=0.654;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.81;FATHMM_pred=T;PROVEAN_score=0.26;PROVEAN_pred=N;VEST3_score=0.095;CADD_raw=0.500;CADD_phred=7.431;DANN_score=0.978;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.107;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=.;phyloP7way_vertebrate=-0.218;phyloP20way_mammalian=0.421;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0112;dpsi_zscore=0.077;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0534;gnomAD_exome_AFR=0.1375;gnomAD_exome_AMR=0.0341;gnomAD_exome_ASJ=0.0885;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0297;gnomAD_exome_NFE=0.0553;gnomAD_exome_OTH=0.0566;gnomAD_exome_SAS=0.0613;gnomAD_genome_ALL=0.0664;gnomAD_genome_AFR=0.1334;gnomAD_genome_AMR=0.0480;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0289;gnomAD_genome_NFE=0.0458;gnomAD_genome_OTH=0.0429;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.C644A:p.T215K,MYOM1:NM_019856:exon4:c.C644A:p.T215K;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.868;SIFT_pred=T;Polyphen2_HDIV_score=0.22;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.096;Polyphen2_HVAR_pred=B;LRT_score=0.654;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.88;FATHMM_pred=T;PROVEAN_score=0.1;PROVEAN_pred=N;VEST3_score=0.146;CADD_raw=-0.720;CADD_phred=0.065;DANN_score=0.412;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.037;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=.;phyloP7way_vertebrate=-0.218;phyloP20way_mammalian=0.421;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0329;dpsi_zscore=-0.181;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-354.438,0,-633.319,.,.,.:703:367:289,.:8001,.:10920 . . . . . . . . . . . . 0/1:-324.033,0,-403.591,.,.,.:500:241:222,.:6386,.:7410 . . . . . . 1/1:-1284.82,-170.845,0,.,.,.:707:13:635,.:18231,.:323 . . . 0/1:-202.956,0,-265.87,.,.,.:317:153:151,.:4307,.:4607 . . . . . . . 0/1:-291.627,0,-356.933,.,.,.:505:227:238,.:6403,.:6773 . . . 0/1:-400.472,0,-480.163,.,.,.:568:273:263,.:7716,.:8387 . . . . . . . . . . . . . . . 0/1:-395.704,0,-629.753,.,.,.:762:374:324,.:8670,.:11156 . . . . . 0/1:-395.31,0,-597.676,.,.,.:669:346:281,.:8415,.:10522 . . 0/1:-299.642,0,-476.808,.,.,.:567:257:249,.:6736,.:8096 . . . 0/1:-86.47,0,-183.332,.,.,.:186:96:80,.:2153,.:2922 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-438.084,0,-567.233,.,.,.:693:331:312,.:8783,.:9997 . . 0/0:0,.,.,-83.6958,.,-854.745:430:390:.,35:.,593:11896:390,35 0/0:0,.,.,-79.2878,.,-841.222:420:381:.,34:.,577:11405:381,34 0/0:0,.,.,-94.8818,.,-939.985:442:403:.,30:.,525:12451:403,30 0/0:0,.,.,-50.5853,.,-463.655:241:221:.,19:.,323:6611:221,19 0/1:-327.336,0,-293.573,.,.,.:421:175:210,.:5851,.:5215:175,210 . 0/0:0,.,.,-87.5728,.,-855.007:424:390:.,33:.,593:11701:390,33 0/0:0,.,.,-84.0742,.,-868.062:435:394:.,37:.,648:12090:394,37 . 0/0:0,.,.,-85.8961,.,-871.604:429:396:.,29:.,501:11728:396,29 0/0:0,.,.,-97.4674,.,-987.895:451:418:.,28:.,483:12850:418,28 0/0:0,.,.,-62.3664,.,-660.905:319:291:.,24:.,428:8904:291,24 0/0:0,.,.,-82.17,.,-776.162:387:354:.,28:.,502:10573:354,28 0/0:0,.,.,-61.3216,.,-659.711:328:294:.,29:.,493:8934:294,29 . 0/0:0,.,.,-78.2708,.,-729.362:351:326:.,19:.,332:9746:326,19 0/0:0,.,.,-85.8835,.,-863.493:418:385:.,32:.,605:11485:385,32 0/0:0,.,.,-76.201,.,-744.754:357:330:.,27:.,499:9783:330,27 0/0:0,.,.,-62.8286,.,-645.88:333:302:.,28:.,493:9064:302,28 . chr18 3188976 . A G 8981.21 . AB=0;ABP=0;AC=82;AF=1;AN=142;AO=694;CIGAR=1X;DP=66221;DPB=728;DPRA=0;EPP=221.084;EPPR=3.13803;GTI=0;LEN=1;MEANALT=3;MQM=35.5677;MQMR=32.2353;NS=1;NUMALT=1;ODDS=831.836;PAIRED=0.904899;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20509;QR=467;RO=17;RPL=95;RPP=797.807;RPPR=4.1599;RPR=599;RUN=1;SAF=518;SAP=368.982;SAR=176;SF=0,1;SRF=14;SRP=18.4661;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.3413;esp6500siv2_ea=0.4153;esp6500siv2_all=0.3413;esp6500siv2_ea=0.4153;1000g2015aug_all=0.443291;avsnp147=rs1962519;Kaviar_AF=0.429069;Kaviar_AC=66335;Kaviar_AN=154602;ExAC_ALL=0.4374;ExAC_AFR=0.1976;ExAC_AMR=0.4007;ExAC_EAS=0.8196;ExAC_FIN=0.4921;ExAC_NFE=0.4155;ExAC_OTH=0.4131;ExAC_SAS=0.4736;CLNALLELEID=230890;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.978;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.719;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_pred=N;VEST3_score=0.169;CADD_raw=2.095;CADD_phred=16.82;DANN_score=0.988;fathmm-MKL_coding_score=0.095;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.993;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.27;phyloP7way_vertebrate=-0.000;phyloP20way_mammalian=1.171;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.092;SiPhy_29way_logOdds=7.638;GDI_full_10282015=.;dpsi_max_tissue=-0.0085;dpsi_zscore=-0.027;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4438;gnomAD_exome_AFR=0.1960;gnomAD_exome_AMR=0.3987;gnomAD_exome_ASJ=0.3927;gnomAD_exome_EAS=0.8208;gnomAD_exome_FIN=0.5039;gnomAD_exome_NFE=0.4177;gnomAD_exome_OTH=0.4294;gnomAD_exome_SAS=0.4746;gnomAD_genome_ALL=0.4044;gnomAD_genome_AFR=0.2102;gnomAD_genome_AMR=0.3940;gnomAD_genome_ASJ=0.4262;gnomAD_genome_EAS=0.8229;gnomAD_genome_FIN=0.5152;gnomAD_genome_NFE=0.4448;gnomAD_genome_OTH=0.4371;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1619.49,-175.93,0:728:17:694:20509:467 . 0/1:-751.473,0,-991.748:957:500:443:13158:15827 0/1:-484.042,0,-585.463:572:301:262:8093:9591 . 0/1:-970.164,0,-1140.86:1190:601:568:16690:18989 0/1:-844.17,0,-851.854:912:435:459:13732:13976 0/1:-983.758,0,-1093.39:1161:584:550:16604:18408 . 0/1:-870.118,0,-1118.38:1085:570:496:14881:17984 0/1:-748.103,0,-965.545:942:503:427:12834:15724 0/1:-804.234,0,-897.433:902:458:428:13207:14592 0/1:-817.864,0,-864.183:927:449:461:13533:14267 0/1:-506.669,0,-755.929:698:386:300:8973:12119 . . 0/1:-552.459,0,-641.354:640:319:307:9193:10067 . . . 0/1:-627.568,0,-631.438:722:346:354:10453:10699 . 0/1:-461.364,0,-518.118:522:264:251:7656:8447 1/1:-2527.17,-283.253,0:1137:23:1089:32183:668 0/1:-834.875,0,-1091.52:1112:579:509:14838:18215 0/1:-530.542,0,-553.381:609:307:291:8696:9559 0/1:-928.556,0,-1047.41:1142:565:552:16103:17534 . 0/1:-463.45,0,-636.626:617:314:284:8490:10086 . 1/1:-1701.38,-199.515,0:776:13:748:21678:418 . . . 1/1:-2109.94,-238.034,0:923:11:888:26717:383 0/1:-1004.65,0,-981.522:1113:513:572:16348:16413 0/1:-865.107,0,-915.533:1008:479:506:14940:15385 . 0/1:-808.349,0,-957.809:983:496:465:13495:15705 . 1/1:-2811.13,-340.326,0:1205:10:1176:35373:219 . 0/1:-869.667,0,-970.745:1021:507:497:14980:16156 0/1:-803.876,0,-863.055:963:477:466:13600:14981 0/1:-985.427,0,-1139.15:1149:587:548:16486:18717 0/1:-998.307,0,-947.423:1065:513:538:16162:16001 . 0/1:-442.26,0,-528.212:533:267:252:7503:8577 0/1:-660.851,0,-851.553:883:456:409:11807:14302 0/1:-914.186,0,-1288.75:1185:637:525:16200:20050 1/1:-2451.58,-287.291,0:1097:19:1055:31111:565 . . . . . . 0/1:-414.375,0,-521.922:526:267:247:7289:8339 0/1:-588.259,0,-628.122:684:340:323:9925:10491 0/1:-814.016,0,-987.236:1066:548:496:14504:17053 . . 0/1:-725.803,0,-925.564:943:490:434:12808:15450 1/1:-1148.76,-115.946,0:527:16:494:14697:454 . . 0/1:-368.028,0,-458.812:473:243:221:6311:7723 0/1:-822.675,0,-783.846:895:425:452:13539:13490 . 0/1:-764.681,0,-1045.1:981:522:439:13294:16706 . 0/1:-1008.91,0,-1180.73:1179:612:545:16618:19287 0/1:-791.914,0,-1022.98:1014:536:458:13542:16801 0/1:-521.666,0,-466.87:620:275:323:9246:8600 0/1:-698.471,0,-769.698:801:396:392:11754:12582 . . 0/1:-918.314,0,-965.052:1028:513:490:14758:15826 0/1:-443.938,0,-656.85:610:329:259:7870:10550 . 0/1:-978.656,0,-1028.87:1104:530:554:16358:16918 0/1:-853.702,0,-972.711:1040:517:497:14685:16387 1/1:-2499.05,-291.425,0:1143:19:1092:32384:517 0/1:-657.667,0,-819.033:842:420:405:11551:13529 0/1:-538.42,0,-896.25:813:446:346:9820:14276 0/1:-794.684,0,-840.968:925:446:456:13509:14094 . . 0/1:-452.396,0,-572.206:543:288:246:7630:9189 0/1:-794.565,0,-1027.68:976:523:428:13055:16609 . . . . 0/1:-1000.98,0,-1034.49:1144:553:565:17040:17632 . 0/1:-1114.28,0,-1140.91:1152:576:562:17635:18199:576,562 0/1:-957.713,0,-1279.42:1110:596:498:15511:19544:596,498 0/1:-1134.57,0,-1258.03:1191:609:573:18055:19904:609,573 1/1:-1524.05,-164.483,0:632:10:613:18988:268:10,613 0/1:-908.321,0,-966.874:963:489:464:14574:15607:489,464 0/1:-1022.51,0,-1267.27:1214:643:554:16982:20425:643,554 0/1:-1069.1,0,-1064.36:1089:517:557:17163:16763:517,557 0/1:-997.567,0,-1190.16:1133:593:528:16618:18889:593,528 0/1:-990.247,0,-1066.62:1051:528:507:15558:16898:528,507 0/1:-997.113,0,-1132.6:1089:551:522:16379:17736:551,522 0/1:-954.629,0,-1261.37:1116:598:504:15686:19513:598,504 . . 1/1:-2271.43,-253.813,0:928:8:904:27934:236:8,904 . . 0/1:-1099.34,0,-1290.71:1224:630:569:17752:20505:630,569 . 1/1:-2288.09,-251.06,0:936:11:908:28275:318:11,908 0/1:-932.877,0,-1102.43:1037:531:493:14981:17040:531,493 chr18 3214917 . GG GC 7953.97 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=356;CIGAR=1M1X;DP=694;DPB=377;DPRA=0;EPP=171.092;EPPR=4.09604;GTI=0;LEN=1;MEANALT=6;MQM=39.5899;MQMR=36.875;NS=1;NUMALT=1;ODDS=439.486;PAIRED=0.949438;PAIREDR=1;PAO=3;PQA=100.5;PQR=64.5;PRO=2;QA=11198;QR=245;RO=8;RPL=50;RPP=402.756;RPPR=3.0103;RPR=306;RUN=1;SAF=311;SAP=434.597;SAR=45;SF=1;SRF=7;SRP=12.7819;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-943.188,-92.4129,0:374:8:356:11198:245:8,356 . . . . 1/1:-837.899,-94.5154,0:320:1:310:9785:34:1,310 . . . . . . . . . . . . . . chr18 3214918 . G C 2493.25 . AB=0.444915;ABP=9.23028;AC=42;AF=0.5;AN=76;AO=105;CIGAR=1X;DP=11578;DPB=236;DPRA=0;EPP=12.1305;EPPR=28.2974;GTI=0;LEN=1;MEANALT=3;MQM=34.3619;MQMR=34.7742;NS=1;NUMALT=1;ODDS=336.059;PAIRED=0.92381;PAIREDR=0.935484;PAO=0;PQA=0;PQR=0;PRO=0;QA=3075;QR=3754;RO=124;RPL=24;RPP=70.2019;RPPR=126.574;RPR=81;RUN=1;SAF=87;SAP=101.471;SAR=18;SF=0,1;SRF=101;SRP=109.553;SRR=23;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2908;esp6500siv2_ea=0.2615;esp6500siv2_all=0.2908;esp6500siv2_ea=0.2615;1000g2015aug_all=0.286142;avsnp147=rs7232679;Kaviar_AF=0.264169;Kaviar_AC=40841;Kaviar_AN=154602;ExAC_ALL=0.2857;ExAC_AFR=0.3814;ExAC_AMR=0.2115;ExAC_EAS=0.2113;ExAC_FIN=0.2986;ExAC_NFE=0.2851;ExAC_OTH=0.2589;ExAC_SAS=0.3389;CLNALLELEID=230896;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3465;dpsi_zscore=0.955;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2724;gnomAD_exome_AFR=0.3776;gnomAD_exome_AMR=0.2124;gnomAD_exome_ASJ=0.2158;gnomAD_exome_EAS=0.2057;gnomAD_exome_FIN=0.3056;gnomAD_exome_NFE=0.2774;gnomAD_exome_OTH=0.2635;gnomAD_exome_SAS=0.2993;gnomAD_genome_ALL=0.3124;gnomAD_genome_AFR=0.3862;gnomAD_genome_AMR=0.2261;gnomAD_genome_ASJ=0.26;gnomAD_genome_EAS=0.2086;gnomAD_genome_FIN=0.3226;gnomAD_genome_NFE=0.2847;gnomAD_genome_OTH=0.3071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-170.723,0,-226.304:236:124:105:3075:3754 . 0/1:-189.801,0,-329.615:302:172:122:3525:5160 . 0/1:-250.872,0,-289.178:331:170:152:4418:5104 0/1:-386.739,0,-417.379:458:223:224:6670:6966 0/1:-242.017,0,-190.097:263:111:144:4151:3296 . 0/1:-273.54,0,-218.011:293:132:154:4381:3831 . . . . . 0/1:-185.325,0,-228.56:259:130:121:3354:3909 . 0/1:-210.709,0,-231.941:260:124:129:3704:3888 . . . . . . . 0/1:-250.887,0,-348.206:367:195:159:4504:5727 1/1:-524.075,-58.0913,0:250:8:235:7004:208 . . 0/1:-208.367,0,-238.207:279:139:128:3711:4221 . . 0/1:-293.103,0,-282.337:353:166:167:4871:4857 . . . . . . 0/1:-296.341,0,-358.023:398:201:186:5423:5990 . . . . 0/1:-321.468,0,-217.463:305:125:175:5147:3894 0/1:-233.457,0,-320.957:322:170:146:4241:5187 . 0/1:-328.397,0,-267.527:334:147:182:5429:4468 1/1:-375.862,-38.008,0:184:7:171:5030:226 0/1:-208.078,0,-187.341:239:105:126:3573:3220 0/1:-303.916,0,-325.995:357:171:177:5222:5367 . . . . 0/1:-141.229,0,-192.931:201:105:92:2590:3203 0/1:-179.633,0,-258.193:253:134:116:3328:4109 0/1:-388.732,0,-370.36:416:191:217:6440:5895 . 0/1:-209.197,0,-265.253:280:147:130:3746:4388 . . 0/1:-336.034,0,-375.537:404:201:189:5799:6177 . 1/1:-474.34,-58.6914,0:228:5:221:6337:168 . . . 0/1:-231.603,0,-293.003:290:150:133:3919:4660 . . . 0/1:-265.02,0,-411.294:411:220:177:4991:6624 . . . . . 0/1:-247.431,0,-315.746:345:176:159:4464:5332 . . . 0/1:-262.205,0,-379.906:371:198:159:4813:6090 . 0/1:-195.447,0,-254.935:275:144:126:3574:4283 . 0/1:-196.56,0,-282.017:289:155:127:3647:4653 0/1:-141.448,0,-238.179:221:120:96:2698:3730 . . . . . . . . . . . 0/1:-326.058,0,-375.443:328:170:153:4860:5498:170,153 0/1:-209.182,0,-229.459:211:105:104:3292:3504:105,104 0/1:-303.798,0,-257.394:273:123:144:4512:3985:123,144 . 0/1:-340.767,0,-268.058:302:136:159:5027:4211:136,159 1/1:-877.34,-77.9494,0:344:10:327:10515:266:10,327 . . . . . . . . 0/1:-375.198,0,-327.949:346:164:174:5658:5039:164,174 . . . chr18 3215030 . C A 7260.13 . AB=0.444444;ABP=29.5505;AC=13;AF=0.5;AN=24;AO=440;CIGAR=1X;DP=13056;DPB=990;DPRA=0;EPP=50.4076;EPPR=113.1;GTI=0;LEN=1;MEANALT=3;MQM=33.8455;MQMR=34.1825;NS=1;NUMALT=1;ODDS=1133.97;PAIRED=0.879545;PAIREDR=0.89013;PAO=0;PQA=0;PQR=0;PRO=0;QA=10377;QR=15722;RO=537;RPL=201;RPP=10.1367;RPPR=20.095;RPR=239;RUN=1;SAF=238;SAP=9.40627;SAR=202;SF=0,1;SRF=284;SRP=6.89631;SRR=253;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G192T:p.A64A,MYOM1:NM_019856:exon2:c.G192T:p.A64A;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0760;esp6500siv2_ea=0.0565;esp6500siv2_all=0.0760;esp6500siv2_ea=0.0565;1000g2015aug_all=0.0730831;avsnp147=rs9964300;Kaviar_AF=0.063311;Kaviar_AC=9788;Kaviar_AN=154602;ExAC_ALL=0.0654;ExAC_AFR=0.1306;ExAC_AMR=0.0817;ExAC_EAS=0.0081;ExAC_FIN=0.0591;ExAC_NFE=0.0652;ExAC_OTH=0.0661;ExAC_SAS=0.0490;CLNALLELEID=230898;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0025;dpsi_zscore=-1.472;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0636;gnomAD_exome_AFR=0.1337;gnomAD_exome_AMR=0.0855;gnomAD_exome_ASJ=0.0230;gnomAD_exome_EAS=0.0067;gnomAD_exome_FIN=0.0611;gnomAD_exome_NFE=0.0642;gnomAD_exome_OTH=0.0599;gnomAD_exome_SAS=0.0499;gnomAD_genome_ALL=0.0826;gnomAD_genome_AFR=0.1357;gnomAD_genome_AMR=0.0778;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.0657;gnomAD_genome_NFE=0.0665;gnomAD_genome_OTH=0.0716;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-508.543,0,-920.491:990:537:440:10377:15722 . . . . . 0/1:-444.132,0,-849.161:860:479:362:8853:14039 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-633.948,0,-1041.42:1206:624:546:12621:18258 . . . . . 0/1:-689.719,0,-1102.18:1218:649:548:13172:19217 . . 0/1:-320.094,0,-599.019:611:331:271:6579:9971 . . . . . . 0/1:-427.615,0,-840.205:889:486:383:8932:14505 . 0/1:-633.359,0,-1223.44:1259:685:537:12930:19935 . . . . 0/1:-737.587,0,-1388.46:1434:790:618:14919:23381 . 1/1:-1201.67,-100.793,0:837:95:717:17187:1852 . . . 0/1:-561.255,0,-983.745:1059:571:470:11115:16882 . . . . . . . . . 0/1:-608.932,0,-1209.46:1230:674:528:12433:20315 . . . . . . . . . . . . . . . . . . 0/1:-1362.54,0,-1604.6:1463:756:703:20819:23758:756,703 . . . . . . . . . . . . . . . . . . . chr18 3215156 . CAC GAG 7245.63 . AB=0.408873;ABP=63.1658;AC=13;AF=0.5;AN=24;AO=341;CIGAR=1X1M1X;DP=10099;DPB=874.333;DPRA=0;EPP=33.3281;EPPR=39.1513;GTI=0;LEN=3;MEANALT=24;MQM=32.7361;MQMR=37.2252;NS=1;NUMALT=1;ODDS=1459.1;PAIRED=0.920821;PAIREDR=0.933168;PAO=62;PQA=1885;PQR=1778;PRO=57;QA=9815;QR=11917;RO=404;RPL=171;RPP=3.01667;RPPR=42.7633;RPR=170;RUN=1;SAF=154;SAP=9.945;SAR=187;SF=0,1;SRF=162;SRP=37.4099;SRR=242;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=MYOM1:NM_003803:exon2:c.64_66CTC,MYOM1:NM_019856:exon2:c.64_66CTC;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386800438;Kaviar_AF=0.0035316;Kaviar_AC=546;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-646.202,0,-877.043:834:404:341:9815:11917 0/1:-641.23,0,-756.988:733:336:331:9286:10094 . . . . . . . . 0/1:-587.133,0,-796.605:736:368:307:8394:10959 . . . . . . . . . . . . 0/1:-572.507,0,-995.451:868:443:331:9560:13400 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-649.659,0,-863.875:852:416:356:9990:12475 . . . . . . . . . . . . . . . . . . . . . 0/1:-731.496,0,-1168.14:1007:515:409:11461:15615 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1098.92,0,-1046.56:952:501:410:12982:15605:501,410 . . 0/1:-627.201,0,-583.476:534:275:239:7694:8605:275,239 . 1/1:-2790.15,-276.353,0:975:19:919:28842:566:19,919 . . . . . 0/1:-821.502,0,-826.762:733:381:324:10342:12044:381,324 0/1:-962.203,0,-928.769:858:445:377:11935:13866:445,377 . . . 0/1:-1088.25,0,-1130.92:1017:537:430:13603:16660:537,430 . . . chr18 3215230 . C T 3268.30 . AB=0.483254;ABP=4.0285;AC=39;AF=0.5;AN=74;AO=202;CIGAR=1X;DP=17599;DPB=418;DPRA=0;EPP=75.2924;EPPR=17.1127;GTI=0;LEN=1;MEANALT=3;MQM=36.8069;MQMR=36.8708;NS=1;NUMALT=1;ODDS=644.369;PAIRED=0.985149;PAIREDR=0.938202;PAO=0;PQA=0;PQR=0;PRO=0;QA=5151;QR=5031;RO=178;RPL=125;RPP=27.778;RPPR=62.7868;RPR=77;RUN=1;SAF=65;SAP=58.7376;SAR=137;SF=0,1;SRF=52;SRP=69.8136;SRR=126;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=MYOM1;GeneDetail.refGene=NM_003803:c.-9G>A,NM_019856:c.-9G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2422;esp6500siv2_ea=0.2245;esp6500siv2_all=0.2422;esp6500siv2_ea=0.2245;1000g2015aug_all=0.335663;avsnp147=rs1662315;Kaviar_AF=0.251064;Kaviar_AC=38815;Kaviar_AN=154602;ExAC_ALL=0.3041;ExAC_AFR=0.3288;ExAC_AMR=0.2519;ExAC_EAS=0.6376;ExAC_FIN=0.3020;ExAC_NFE=0.2652;ExAC_OTH=0.2733;ExAC_SAS=0.2927;CLNALLELEID=230907;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5452;dpsi_zscore=1.799;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2641;gnomAD_exome_AFR=0.2928;gnomAD_exome_AMR=0.1996;gnomAD_exome_ASJ=0.2492;gnomAD_exome_EAS=0.6250;gnomAD_exome_FIN=0.2688;gnomAD_exome_NFE=0.2252;gnomAD_exome_OTH=0.2503;gnomAD_exome_SAS=0.2602;gnomAD_genome_ALL=0.2717;gnomAD_genome_AFR=0.2912;gnomAD_genome_AMR=0.2172;gnomAD_genome_ASJ=0.2219;gnomAD_genome_EAS=0.6318;gnomAD_genome_FIN=0.2604;gnomAD_genome_NFE=0.2306;gnomAD_genome_OTH=0.2357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-319.763,0,-300.898:418:178:202:5151:5031 0/1:-346.659,0,-432.16:545:255:249:6467:7154 . 0/1:-209.266,0,-233.882:296:133:133:3530:3879 . . 0/1:-322.947,0,-357.871:461:207:208:5362:5768 . 0/1:-258.108,0,-523.187:501:286:182:4757:8033 0/1:-359.973,0,-407.006:530:237:237:6191:6728 . 0/1:-212.602,0,-382.077:410:216:151:4048:5976 . . . . . . . . . . . . 0/1:-255.415,0,-432.527:487:251:194:5124:6935 . 0/1:-306.82,0,-367.052:421:204:191:5090:5952 0/1:-241.687,0,-450.064:483:241:186:4489:6820 . . 0/1:-322.081,0,-235.2:354:144:187:4999:4135 . 0/1:-302.512,0,-414.135:464:231:201:5141:6564 . . . . . . . . 1/1:-928.546,-128.559,0:498:3:445:11274:71 . 0/1:-333.401,0,-466.334:510:260:215:5683:7195 0/1:-447.198,0,-434.342:572:247:279:7263:7035 . . . 0/1:-208.062,0,-284.098:321:154:143:3590:4476 . . . 0/1:-401.733,0,-457.512:581:268:250:6690:7372 . 0/1:-223.454,0,-277.838:345:163:145:3928:4489 0/1:-257.839,0,-268.364:353:159:166:4300:4387 . . . . . . . . . . . . . . 0/1:-240.933,0,-491.652:499:276:179:4487:7503 0/1:-350.312,0,-545.39:614:311:248:6514:8529 . . 0/1:-299.467,0,-349.828:430:198:188:4952:5578 . 0/1:-290.902,0,-563.721:538:293:202:5383:8412 . . . . 0/1:-311.922,0,-458.344:504:260:205:5379:7280 . . . . . 0/1:-321.145,0,-386.465:492:220:222:5715:6164 . . . 0/1:-259.608,0,-378.133:419:214:172:4649:5857 0/1:-431.836,0,-415.668:557:246:261:7115:6804 . . . 0/1:-361.007,0,-654.657:540:312:208:6196:9403:312,208 0/1:-447.456,0,-646.914:563:310:237:7046:9374:310,237 . 0/1:-227.959,0,-372.221:303:173:122:3739:5303:173,122 . 1/1:-1234.52,-125.694,0:536:11:503:15149:353:11,503 . . . . . 0/1:-346.516,0,-474.541:432:230:186:5572:6894:230,186 0/1:-311.276,0,-531.347:439:247:177:5117:7661:247,177 . . 0/1:-465.948,0,-476.49:475:228:228:7027:7068:228,228 0/1:-402.351,0,-696.272:588:335:232:6768:10021:335,232 . 0/1:-468.909,0,-501.92:499:249:237:7054:7523:249,237 0/1:-550.844,0,-631.174:621:311:289:8529:9330:311,289 chr18 9117796 . G A 3158.01 . AB=0.476584;ABP=4.7391;AC=1;AF=0.5;AN=2;AO=173;CIGAR=1X;DP=363;DPB=363;DPRA=0;EPP=22.1017;EPPR=25.858;GTI=0;LEN=1;MEANALT=3;MQM=39.7225;MQMR=40.3533;NS=1;NUMALT=1;ODDS=727.16;PAIRED=0.988439;PAIREDR=0.98913;PAO=0;PQA=0;PQR=0;PRO=0;QA=5139;QR=5212;RO=184;RPL=87;RPP=3.02285;RPPR=27.9822;RPR=86;RUN=1;SAF=120;SAP=59.3556;SAR=53;SF=0;SRF=121;SRP=42.7105;SRR=63;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0725;dpsi_zscore=0.391;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-330.568,0,-347.241:363:184:173:5139:5212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 9117867 . T C 8206.71 . AB=0;ABP=0;AC=198;AF=1;AN=224;AO=523;CIGAR=1X;DP=45254;DPB=540;DPRA=0;EPP=34.4364;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=40.5277;MQMR=35.3333;NS=1;NUMALT=1;ODDS=708.424;PAIRED=0.988528;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14740;QR=64;RO=3;RPL=202;RPP=61.8061;RPPR=9.52472;RPR=321;RUN=1;SAF=216;SAP=37.3926;SAR=307;SF=0,1;SRF=0;SRP=9.52472;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon2:c.T86C:p.V29A;cytoBand=18p11.22;genomicSuperDups=.;esp6500siv2_all=0.7995;esp6500siv2_ea=0.8194;esp6500siv2_all=0.7995;esp6500siv2_ea=0.8194;1000g2015aug_all=0.778954;avsnp147=rs906807;Kaviar_AF=0.792913;Kaviar_AC=122586;Kaviar_AN=154602;ExAC_ALL=0.8001;ExAC_AFR=0.7593;ExAC_AMR=0.7611;ExAC_EAS=0.7098;ExAC_FIN=0.7420;ExAC_NFE=0.8157;ExAC_OTH=0.7963;ExAC_SAS=0.8606;CLNALLELEID=24093;CLNDN=Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified;CLNDISDB=MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.465;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;PROVEAN_score=1.38;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.840;CADD_phred=9.708;DANN_score=0.821;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.966;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.731;integrated_confidence_value=0;GERP++_RS=4.67;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.040;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.747;SiPhy_29way_logOdds=11.855;GDI_full_10282015=.;dpsi_max_tissue=1.5365;dpsi_zscore=1.795;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM983407#"Parkinson_disease_susceptibility_to_association";gnomAD_exome_ALL=0.7980;gnomAD_exome_AFR=0.7551;gnomAD_exome_AMR=0.7493;gnomAD_exome_ASJ=0.8953;gnomAD_exome_EAS=0.7120;gnomAD_exome_FIN=0.7492;gnomAD_exome_NFE=0.8155;gnomAD_exome_OTH=0.8101;gnomAD_exome_SAS=0.8591;gnomAD_genome_ALL=0.7844;gnomAD_genome_AFR=0.7579;gnomAD_genome_AMR=0.7709;gnomAD_genome_ASJ=0.8974;gnomAD_genome_EAS=0.7494;gnomAD_genome_FIN=0.7349;gnomAD_genome_NFE=0.8134;gnomAD_genome_OTH=0.7888;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1278.6,-152.695,0:540:3:523:14740:64 1/1:-1263.23,-152.568,0:527:1:510:14689:14 0/1:-448.789,0,-479.669:504:242:246:6932:7206 0/1:-287.866,0,-302.671:312:150:154:4350:4507 1/1:-1045.47,-130.291,0:454:1:436:12216:14 1/1:-1193.79,-139.626,0:483:2:468:13788:28 0/1:-434.835,0,-402.511:435:200:227:6457:6105 1/1:-882.209,-100.867,0:376:5:359:10324:105 1/1:-825.895,-93.6632,0:340:3:327:9562:64 0/1:-576.06,0,-452.857:524:224:289:8489:6952 0/1:-398.562,0,-417.925:445:212:219:6079:6385 1/1:-1054.47,-126.825,0:452:2:434:12220:50 1/1:-1017.53,-106.749,0:433:8:416:11952:236 1/1:-901.253,-110.068,0:389:2:372:10491:28 1/1:-894.579,-110.383,0:393:2:371:10240:28 1/1:-1386.18,-161.242,0:569:2:542:15962:28 1/1:-946.156,-117.985,0:406:1:395:11039:14 1/1:-1735.84,-201.315,0:724:5:696:20071:110 1/1:-1149.61,-138.822,0:495:3:476:13288:60 1/1:-906.52,-109.821,0:377:1:368:10405:14 1/1:-891.828,-106.406,0:387:2:369:10261:59 0/1:-483.392,0,-586.204:552:283:255:7409:8673 1/1:-845.291,-98.3644,0:372:4:348:9877:92 1/1:-1157.87,-139.623,0:477:1:467:13283:14 1/1:-1233.45,-140.735,0:503:4:484:14217:69 1/1:-962.773,-110.705,0:415:4:393:11206:100 0/1:-418.828,0,-380.356:425:193:215:6232:5778 1/1:-1241.72,-147.422,0:537:4:512:14352:96 0/1:-348.348,0,-439.218:420:218:189:5491:6538 1/1:-973.771,-117.402,0:402:0:390:11125:0 1/1:-1072.69,-122.832,0:449:2:426:12315:68 1/1:-1583.64,-189.342,0:667:4:647:18236:74 1/1:-1342.52,-150.067,0:565:4:533:15658:131 0/1:-555.575,0,-524.378:550:249:281:8189:7955 1/1:-1183.16,-136.5,0:491:3:472:13588:73 1/1:-1273.77,-153.224,0:531:0:509:14647:0 1/1:-1319.51,-155.895,0:537:1:519:15232:14 1/1:-1509.45,-179.781,0:638:3:610:17369:60 1/1:-1099.06,-121.343,0:483:9:464:13052:237 1/1:-721.348,-86.5172,0:303:1:297:8440:36 0/1:-506.076,0,-578.616:574:281:279:7857:8588 0/1:-358.558,0,-395.627:403:197:194:5552:5960 1/1:-891.646,-107.698,0:378:2:364:10314:28 1/1:-1274.03,-152.622,0:527:0:507:14558:0 0/1:-587.459,0,-608.625:626:299:314:8858:9116 1/1:-1129.12,-134.845,0:467:1:451:13022:14 0/1:-437.937,0,-414.761:446:205:229:6478:6240 1/1:-620.379,-72.0948,0:257:1:248:7212:32 1/1:-928.037,-116.141,0:411:3:392:10792:42 1/1:-1226.59,-146.445,0:514:2:495:14312:41 0/1:-540.594,0,-426.837:506:224:269:7922:6640 1/1:-1164.53,-133.731,0:478:3:464:13539:77 1/1:-1352.8,-159.523,0:554:2:536:15590:28 1/1:-1163.09,-134.062,0:478:2:457:13532:46 1/1:-903.952,-105.367,0:387:2:368:10425:68 1/1:-923.271,-107.694,0:384:4:367:10731:56 1/1:-1045.37,-124.166,0:445:2:428:12050:59 1/1:-706.166,-84.1733,0:301:1:289:8171:36 1/1:-887.211,-101.988,0:381:4:363:10373:96 1/1:-741.703,-88.9941,0:311:2:302:8474:28 1/1:-846.999,-102.632,0:356:1:344:9795:14 0/1:-459.097,0,-524.746:501:254:238:6984:7731 1/1:-899.588,-106.209,0:380:1:356:10436:14 0/1:-409.715,0,-349.623:413:183:219:6109:5434 1/1:-1380.54,-161.322,0:559:2:542:15822:28 1/1:-1173.75,-134.942,0:481:4:465:13639:78 0/1:-328.087,0,-366.283:365:184:173:4964:5577 1/1:-1618.66,-183.927,0:648:2:630:18641:72 1/1:-851.823,-101.29,0:359:1:346:9874:36 1/1:-1238.51,-150.362,0:534:2:511:14254:46 1/1:-1019.33,-120.643,0:424:2:407:11783:28 0/1:-469.85,0,-495.242:488:241:236:6989:7522 1/1:-1526.34,-178.547,0:639:4:615:17707:87 0/1:-274.874,0,-295.078:318:154:153:4235:4457 1/1:-1119.31,-132.246,0:469:2:452:12863:50 1/1:-1167.67,-140.225,0:489:1:469:13423:14 1/1:-1078.83,-126.434,0:463:4:437:12600:78 . 1/1:-842.441,-96.0022,0:369:4:348:9788:113 1/1:-783.417,-93.4188,0:356:4:340:9104:114 . 1/1:-1294.16,-148.609,0:531:3:509:14965:73 1/1:-1195.24,-140.14,0:496:4:478:13823:56 1/1:-1152.83,-129.96,0:485:6:461:13435:119 1/1:-1111.88,-130.428,0:469:3:449:12951:64 1/1:-943.289,-110.835,0:410:3:392:11049:104 . 1/1:-1213.48,-133.952,0:500:6:480:14127:153 1/1:-783.728,-94.4495,0:335:2:320:9016:28 1/1:-1345.04,-156.828,0:566:3:542:15466:82 1/1:-1409.36,-164.98,0:593:4:568:16298:92 0/1:-395.53,0,-357.979:397:175:211:5838:5474 0/1:-643.283,0,-607.131:650:300:332:9557:9187 1/1:-1010.61,-120.061,0:417:2:403:11715:28 1/1:-1247.57,-147.631,0:534:3:510:14539:77 . 1/1:-306.98,-34.3174,0:115:0:114:3528:0:0,114 1/1:-374.33,-38.9497,0:144:1:139:4350:36:1,139 0/1:-121.387,0,-142.268:134:69:60:1867:2069:69,60 1/1:-149.263,-16.2556,0:55:0:54:1754:0:0,54 0/1:-100.277,0,-140.412:125:70:50:1547:2036:70,50 1/1:-422.833,-46.9607,0:157:0:156:4877:0:0,156 1/1:-362.335,-40.6391,0:138:0:135:4173:0:0,135 1/1:-371.784,-35.8142,0:144:2:137:4342:68:2,137 1/1:-342.053,-38.5318,0:129:0:128:3953:0:0,128 1/1:-227.712,-23.6712,0:88:2:85:2681:28:2,85 1/1:-313.719,-33.4143,0:115:0:111:3616:0:0,111 1/1:-283.231,-30.7051,0:104:0:102:3255:0:0,102 0/1:-125.147,0,-110.681:116:56:59:1857:1698:56,59 1/1:-453.486,-51.4761,0:171:0:171:5190:0:0,171 1/1:-275.728,-30.7051,0:104:0:102:3135:0:0,102 0/1:-165.112,0,-167.043:162:80:78:2425:2519:80,78 1/1:-442.644,-46.4985,0:172:1:164:5137:36:1,164 0/1:-152.198,0,-126.237:143:63:76:2273:1946:63,76 1/1:-385.57,-38.9377,0:150:2:146:4502:63:2,146 1/1:-226.045,-24.6845,0:84:0:82:2573:0:0,82 chr18 9119489 . A T 11788.85 . AB=0.456917;ABP=23.405;AC=26;AF=0.5;AN=50;AO=578;CIGAR=1X;DP=27766;DPB=1265;DPRA=0;EPP=18.3985;EPPR=4.99737;GTI=0;LEN=1;MEANALT=3;MQM=39.8651;MQMR=38.6676;NS=1;NUMALT=1;ODDS=2517.89;PAIRED=0.99481;PAIREDR=0.979502;PAO=0;PQA=0;PQR=0;PRO=0;QA=17409;QR=20569;RO=683;RPL=297;RPP=3.97206;RPPR=14.0775;RPR=281;RUN=1;SAF=238;SAP=42.0968;SAR=340;SF=0,1;SRF=323;SRP=7.36278;SRR=360;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon4:c.A201T:p.V67V;cytoBand=18p11.22;genomicSuperDups=.;esp6500siv2_all=0.1298;esp6500siv2_ea=0.1129;esp6500siv2_all=0.1298;esp6500siv2_ea=0.1129;1000g2015aug_all=0.0750799;avsnp147=rs41274300;Kaviar_AF=0.0861632;Kaviar_AC=13321;Kaviar_AN=154602;ExAC_ALL=0.0850;ExAC_AFR=0.1575;ExAC_AMR=0.0449;ExAC_EAS=0.0001;ExAC_FIN=0.0363;ExAC_NFE=0.1029;ExAC_OTH=0.0878;ExAC_SAS=0.0605;CLNALLELEID=135149;CLNDN=Mitochondrial_complex_I_deficiency|not_specified;CLNDISDB=MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1755;dpsi_zscore=-0.637;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0828;gnomAD_exome_AFR=0.1562;gnomAD_exome_AMR=0.0501;gnomAD_exome_ASJ=0.1340;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0376;gnomAD_exome_NFE=0.1060;gnomAD_exome_OTH=0.0842;gnomAD_exome_SAS=0.0603;gnomAD_genome_ALL=0.1037;gnomAD_genome_AFR=0.1603;gnomAD_genome_AMR=0.0635;gnomAD_genome_ASJ=0.1689;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0424;gnomAD_genome_NFE=0.0999;gnomAD_genome_OTH=0.0602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-1109.05,0,-1314.87:1265:683:578:17409:20569 0/1:-1348.2,0,-1307.23:1371:700:666:20963:21200 . 0/1:-1057.5,0,-1202.34:1143:599:538:16803:18289 . 0/1:-1190.31,0,-1407.76:1330:711:611:19075:21676 . . . . 0/1:-953.569,0,-805.005:887:421:466:14407:13025 . . . . . . 0/1:-1281.49,0,-1454.54:1387:726:656:20304:22320 . 0/1:-1344.1,0,-1243:1316:647:666:20712:19825 . 0/1:-952.821,0,-987.991:1014:524:486:15051:15700 . . . 0/1:-759.922,0,-884.127:825:440:383:12013:13274 . . 0/1:-1160.45,0,-1153.27:1224:611:608:18625:18462 . . 0/1:-1262.86,0,-1201.24:1223:606:613:19381:18594 1/1:-3587.71,-381.917,0:1413:34:1368:42953:902 . 0/1:-1122.97,0,-1162.65:1193:620:564:17302:18333 . . . . . . . . . . . . . 0/1:-1437.85,0,-1273.3:1377:640:734:22501:19776 . . . . . . . . . . . 0/1:-1401.43,0,-1410.1:1439:729:706:22014:22029 . . . . . 0/1:-1199.66,0,-1070.13:1146:553:587:18289:17126 0/1:-1499.76,0,-1323.43:1431:700:725:22784:21325 . . 0/1:-1149.57,0,-1023.26:1110:539:568:17593:16499 . . . . 0/1:-850.125,0,-801.191:860:416:438:13577:13085 . . . . . . . . . . . . . . 0/1:-1260.24,0,-1512.29:1417:765:643:20205:23226 . . . . . . . 0/1:-760.586,0,-781.182:761:385:372:11999:12080:385,372 0/1:-751.841,0,-829.453:754:387:364:11658:12645:387,364 . . 0/1:-758.979,0,-690.805:694:332:358:11731:10814:332,358 0/1:-628.726,0,-650.52:611:304:301:9830:9917:304,301 . . . . . . . 0/1:-533.213,0,-671.825:575:308:267:8517:9903:308,267 chr18 19378178 . A G 9168.62 . AB=0.458216;ABP=19.1608;AC=1;AF=0.5;AN=2;AO=488;CIGAR=1X;DP=1065;DPB=1065;DPRA=0;EPP=19.0294;EPPR=19.9618;GTI=0;LEN=1;MEANALT=3;MQM=39.959;MQMR=39.8746;NS=1;NUMALT=1;ODDS=2111.15;PAIRED=0.973361;PAIREDR=0.96595;PAO=0;PQA=0;PQR=0;PRO=0;QA=14536;QR=17627;RO=558;RPL=234;RPP=4.7902;RPPR=19.9618;RPR=254;RUN=1;SAF=160;SAP=128.6;SAR=328;SF=0;SRF=210;SRP=77.1206;SRR=348;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MIB1:NM_020774:exon8:c.A1226G:p.N409S;cytoBand=18q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs138693285;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=9.91e-05;ExAC_AFR=9.619e-05;ExAC_AMR=8.735e-05;ExAC_EAS=0.0008;ExAC_FIN=0;ExAC_NFE=3.002e-05;ExAC_OTH=0;ExAC_SAS=6.067e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.095;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.58;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;PROVEAN_score=-1.87;PROVEAN_pred=N;VEST3_score=0.096;CADD_raw=2.579;CADD_phred=19.97;DANN_score=0.996;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.088;MetaSVM_pred=T;MetaLR_score=0.061;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.24;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.176;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.422;GDI_full_10282015=.;dpsi_max_tissue=-0.2889;dpsi_zscore=-0.837;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.543e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.759e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-940.387,0,-1188.4:1065:558:488:14536:17627 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 19383888 . C T 9205.42 . AB=0.442953;ABP=36.7046;AC=1;AF=0.5;AN=2;AO=528;CIGAR=1X;DP=1192;DPB=1192;DPRA=0;EPP=272.536;EPPR=242.332;GTI=0;LEN=1;MEANALT=3;MQM=40.2822;MQMR=40.7009;NS=1;NUMALT=1;ODDS=2119.63;PAIRED=0.965909;PAIREDR=0.96729;PAO=0;PQA=0;PQR=0;PRO=0;QA=15544;QR=19138;RO=642;RPL=371;RPP=191.353;RPPR=141.024;RPR=157;RUN=1;SAF=369;SAP=184.378;SAR=159;SF=0;SRF=414;SRP=120.026;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MIB1:NM_020774:exon10:c.C1392T:p.G464G;cytoBand=18q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201264511;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3718;dpsi_zscore=-0.950;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-996.99,0,-1309.96:1192:642:528:15544:19138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 19383966 . C T 6259.86 . AB=0.480183;ABP=5.24798;AC=1;AF=0.5;AN=2;AO=315;CIGAR=1X;DP=656;DPB=656;DPRA=0;EPP=13.4954;EPPR=43.0444;GTI=0;LEN=1;MEANALT=3;MQM=40.3302;MQMR=40.7879;NS=1;NUMALT=1;ODDS=1441.39;PAIRED=0.984127;PAIREDR=0.975758;PAO=0;PQA=0;PQR=0;PRO=0;QA=9577;QR=10481;RO=330;RPL=182;RPP=19.5617;RPPR=53.9675;RPR=133;RUN=1;SAF=139;SAP=12.4476;SAR=176;SF=0;SRF=175;SRP=5.64239;SRR=155;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MIB1:NM_020774:exon10:c.C1470T:p.V490V;cytoBand=18q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000798722;avsnp147=rs141701856;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0003;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=6.176e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=512872;CLNDN=Left_ventricular_noncompaction_7;CLNDISDB=MedGen:C3554496,OMIM:615092;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5824;dpsi_zscore=-1.170;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.361e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.811e-05;gnomAD_exome_FIN=4.487e-05;gnomAD_exome_NFE=4.493e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.689e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-637.255,0,-713.879:656:330:315:9577:10481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 19418308 . T C 4931.62 . AB=0.472318;ABP=6.85734;AC=2;AF=0.5;AN=4;AO=273;CIGAR=1X;DP=1044;DPB=578;DPRA=0;EPP=30.6986;EPPR=57.6369;GTI=0;LEN=1;MEANALT=3;MQM=40.3443;MQMR=40.2993;NS=1;NUMALT=1;ODDS=1147.73;PAIRED=0.967033;PAIREDR=0.986395;PAO=0;PQA=0;PQR=0;PRO=0;QA=7896;QR=9146;RO=294;RPL=82;RPP=97.5131;RPPR=109.368;RPR=191;RUN=1;SAF=105;SAP=34.5802;SAR=168;SF=0,1;SRF=105;SRP=55.1256;SRR=189;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q11.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs201761957;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=508898;CLNDN=Left_ventricular_noncompaction_7;CLNDISDB=MedGen:C3554496,OMIM:615092;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0623;dpsi_zscore=-0.318;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-521.682,0,-621.035:578:294:273:7896:9146 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-493.304,0,-464.949:466:224:234:7253:7009:224,234 . . . . . chr18 19418475 . A G 3191.78 . AB=0.471098;ABP=5.52067;AC=1;AF=0.5;AN=2;AO=163;CIGAR=1X;DP=346;DPB=346;DPRA=0;EPP=25.4044;EPPR=125.003;GTI=0;LEN=1;MEANALT=2;MQM=40.1902;MQMR=40.7865;NS=1;NUMALT=1;ODDS=734.934;PAIRED=0.92638;PAIREDR=0.949438;PAO=0;PQA=0;PQR=0;PRO=0;QA=5020;QR=5631;RO=178;RPL=101;RPP=23.2729;RPPR=26.6281;RPR=62;RUN=1;SAF=76;SAP=4.62225;SAR=87;SF=1;SRF=104;SRP=13.9897;SRR=74;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q11.2;genomicSuperDups=.;esp6500siv2_all=0.0088;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0088;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00878594;avsnp147=rs139079482;Kaviar_AF=0.0023027;Kaviar_AC=356;Kaviar_AN=154602;ExAC_ALL=0.0024;ExAC_AFR=0.0267;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.136e-05;ExAC_OTH=0;ExAC_SAS=6.298e-05;CLNALLELEID=378931;CLNDN=Left_ventricular_noncompaction_7|not_specified;CLNDISDB=MedGen:C3554496,OMIM:615092|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0621;dpsi_zscore=0.351;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0265;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.011e-05;gnomAD_exome_OTH=0.0010;gnomAD_exome_SAS=4.337e-05;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0266;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-330.743,0,-386.178:346:178:163:5020:5631:178,163 . . . . . . . . . . . . . . . . chr18 19427096 . A G 6190.30 . AB=0.520661;ABP=5.25356;AC=26;AF=0.5;AN=50;AO=315;CIGAR=1X;DP=15548;DPB=605;DPRA=0;EPP=5.00254;EPPR=15.7289;GTI=0;LEN=1;MEANALT=3;MQM=38.9492;MQMR=40.3554;NS=1;NUMALT=1;ODDS=1254.67;PAIRED=0.952381;PAIREDR=0.982578;PAO=0;PQA=0;PQR=0;PRO=0;QA=9400;QR=8556;RO=287;RPL=164;RPP=4.17531;RPPR=5.74166;RPR=151;RUN=1;SAF=143;SAP=8.80779;SAR=172;SF=0,1;SRF=140;SRP=3.38104;SRR=147;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q11.2;genomicSuperDups=.;esp6500siv2_all=0.1000;esp6500siv2_ea=0.0848;esp6500siv2_all=0.1000;esp6500siv2_ea=0.0848;1000g2015aug_all=0.0878594;avsnp147=rs11877131;Kaviar_AF=0.0780779;Kaviar_AC=12071;Kaviar_AN=154602;ExAC_ALL=0.0857;ExAC_AFR=0.1460;ExAC_AMR=0.0423;ExAC_EAS=0.0363;ExAC_FIN=0.0694;ExAC_NFE=0.0936;ExAC_OTH=0.0789;ExAC_SAS=0.0797;CLNALLELEID=376706;CLNDN=Left_ventricular_noncompaction_7|not_specified;CLNDISDB=MedGen:C3554496,OMIM:615092|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0306;dpsi_zscore=0.200;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0759;gnomAD_exome_AFR=0.1312;gnomAD_exome_AMR=0.0430;gnomAD_exome_ASJ=0.1099;gnomAD_exome_EAS=0.0329;gnomAD_exome_FIN=0.0657;gnomAD_exome_NFE=0.0838;gnomAD_exome_OTH=0.0841;gnomAD_exome_SAS=0.0754;gnomAD_genome_ALL=0.0858;gnomAD_genome_AFR=0.1270;gnomAD_genome_AMR=0.0668;gnomAD_genome_ASJ=0.0894;gnomAD_genome_EAS=0.0302;gnomAD_genome_FIN=0.0611;gnomAD_genome_NFE=0.0745;gnomAD_genome_OTH=0.0857;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-618.155,0,-553.531:605:287:315:9400:8556 . . 0/1:-373.389,0,-499.458:447:246:198:6049:7378 . . . . . . . . . . 0/1:-625.319,0,-704.136:646:336:304:9423:10447 . 0/1:-543.922,0,-596.324:562:287:268:8341:8904 . . 0/1:-443.496,0,-490.771:474:239:224:6831:7312 . . . . . . . . 0/1:-543.688,0,-548.836:569:280:279:8340:8456 . 0/1:-622.546,0,-517.524:589:269:309:9432:8111 . . . . . . 0/1:-810.64,0,-763.831:796:386:400:12123:11758 . 0/1:-438.042,0,-450.939:449:223:219:6699:6826 0/1:-813.754,0,-876.468:840:426:400:12350:13171 . . . . . 0/1:-479.531,0,-739.035:615:349:258:7815:10773 . . . . . . . . . 0/1:-644.492,0,-764.851:714:373:326:9914:11390 . 0/1:-447.556,0,-542.46:483:249:223:6794:7929 . . . . . . 0/1:-738.488,0,-715.574:716:350:357:11116:10795 . . 0/1:-516.069,0,-501.863:515:252:254:7770:7702 . . . . . . . 0/1:-658.551,0,-774.883:709:369:330:10166:11529 . . . 0/1:-746.402,0,-796.738:780:393:379:11371:12108 . . . . 0/1:-537.969,0,-590.528:564:289:271:8238:8859 1/1:-1077.02,-109.921,0:449:8:432:12813:267 . . 0/1:-655.23,0,-733.065:692:355:328:10165:10923 . . . . . . . . . 0/1:-434.941,0,-530.466:455:242:210:6656:7647:242,210 . . . 0/1:-897.163,0,-863.597:833:412:414:13223:12758:412,414 0/1:-692.857,0,-788.906:707:374:328:10531:11586:374,328 . . 0/1:-622.856,0,-657.321:603:309:288:9349:9674:309,288 . 0/1:-829.952,0,-738.55:736:355:377:12071:11193:355,377 . . . . . . chr18 19429174 . G A 4957.84 . AB=0.506718;ABP=3.21453;AC=1;AF=0.5;AN=2;AO=264;CIGAR=1X;DP=521;DPB=521;DPRA=0;EPP=18.9344;EPPR=11.3242;GTI=0;LEN=1;MEANALT=2;MQM=39.7803;MQMR=40.0677;NS=1;NUMALT=1;ODDS=1108.16;PAIRED=0.981061;PAIREDR=0.964143;PAO=0;PQA=0;PQR=0;PRO=0;QA=7750;QR=7615;RO=251;RPL=179;RPP=75.6888;RPPR=54.3038;RPR=85;RUN=1;SAF=101;SAP=34.6283;SAR=163;SF=0;SRF=87;SRP=54.3038;SRR=164;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MIB1:NM_020774:exon17:c.G2411A:p.R804Q;cytoBand=18q11.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000399361;avsnp147=rs200809199;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=6.319e-05;CLNALLELEID=426266;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.585;SIFT_pred=T;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.29;FATHMM_pred=T;PROVEAN_score=-0.14;PROVEAN_pred=N;VEST3_score=0.47;CADD_raw=3.448;CADD_phred=23.0;DANN_score=0.946;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.080;MetaSVM_pred=T;MetaLR_score=0.043;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.45;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=10.663;GDI_full_10282015=.;dpsi_max_tissue=-0.4884;dpsi_zscore=-1.080;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=7.428e-05;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=4.004e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-515.41,0,-499.901:521:251:264:7750:7615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 28647999 . TTCT TTCTCT 4446.92 . AB=0.45173;ABP=25.2313;AC=5;AF=0.5;AN=10;AO=496;CIGAR=1M2I3M;DP=3663;DPB=1401.75;DPRA=0;EPP=45.0563;EPPR=21.0786;GTI=0;LEN=2;MEANALT=41;MQM=37.8286;MQMR=39.6394;NS=1;NUMALT=1;ODDS=1590.16;PAIRED=0.957661;PAIREDR=0.947589;PAO=26;PQA=741;PQR=741;PRO=26;QA=12707;QR=14881;RO=477;RPL=54;RPP=662.087;RPPR=557.491;RPR=442;RUN=1;SAF=311;SAP=72.5149;SAR=185;SF=0,1;SRF=280;SRP=34.3715;SRR=197;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=DSC2:NM_024422:exon16:c.2684_2685insAG:p.A895fs;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-784.819,0,-947.886:1098:477:496:12707:14881 . . . 0/1:-686.04,0,-762.884:913:389:424:10932:12122 . . . . . . 0/1:-313.849,0,-439.997:482:219:205:5166:6791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-383.616,0,-669.654:675:330:270:6604:10255 . . . . . . . . . . . . . . . . . . . 0/1:-325.427,0,-562.712:495:258:207:5283:8075:258,207 . . . . . . . . chr18 28648975 . C T 7888.55 . AB=0.475956;ABP=7.08281;AC=10;AF=0.5;AN=20;AO=386;CIGAR=1X;DP=11886;DPB=811;DPRA=0;EPP=19.4145;EPPR=14.7318;GTI=0;LEN=1;MEANALT=3;MQM=34.0881;MQMR=33.9337;NS=1;NUMALT=1;ODDS=1332.19;PAIRED=0.945596;PAIREDR=0.92602;PAO=0;PQA=0;PQR=0;PRO=0;QA=10707;QR=12104;RO=392;RPL=134;RPP=81.3408;RPPR=35.0063;RPR=252;RUN=1;SAF=240;SAP=52.7179;SAR=146;SF=0,1;SRF=247;SRP=60.643;SRR=145;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon15:c.G2393A:p.R798Q,DSC2:NM_024422:exon15:c.G2393A:p.R798Q;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0342;esp6500siv2_ea=0.0452;esp6500siv2_all=0.0342;esp6500siv2_ea=0.0452;1000g2015aug_all=0.0275559;avsnp147=rs61731921;Kaviar_AF=0.0472762;Kaviar_AC=7309;Kaviar_AN=154602;ExAC_ALL=0.0495;ExAC_AFR=0.0074;ExAC_AMR=0.0156;ExAC_EAS=0.0010;ExAC_FIN=0.1191;ExAC_NFE=0.0540;ExAC_OTH=0.0716;ExAC_SAS=0.0781;CLNALLELEID=44670;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.159;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=0.32;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.324;CADD_phred=5.922;DANN_score=0.888;fathmm-MKL_coding_score=0.015;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.977;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-5.21;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-1.160;phastCons7way_vertebrate=0.041;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=15.866;GDI_full_10282015=.;dpsi_max_tissue=-0.1404;dpsi_zscore=-0.558;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0481;gnomAD_exome_AFR=0.0075;gnomAD_exome_AMR=0.0121;gnomAD_exome_ASJ=0.0279;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.1185;gnomAD_exome_NFE=0.0517;gnomAD_exome_OTH=0.0476;gnomAD_exome_SAS=0.0770;gnomAD_genome_ALL=0.0442;gnomAD_genome_AFR=0.0077;gnomAD_genome_AMR=0.0144;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1216;gnomAD_genome_NFE=0.0521;gnomAD_genome_OTH=0.0789;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-600.879,0,-692.407:811:392:386:10707:12104 . . . . . . . . . . . . . . . . . . . 0/1:-940.802,0,-1081.55:1267:615:621:16715:19127 . . . . . . . . . . . 0/1:-950.734,0,-1209.45:1408:694:660:18122:21574 . . . . . . 0/1:-559.449,0,-811.976:892:464:392:10419:14091 . . . . . . . . . . . . . 0/1:-835.612,0,-1110.54:1270:638:603:16342:19542 . . 0/1:-644.678,0,-826.41:973:484:455:12103:14839 . 0/1:-745.985,0,-1151.31:1207:618:539:14482:19236 . . . . . . . . 0/1:-1096.75,0,-1467.28:1444:779:639:19183:23859:779,639 . . . . . . . . 0/1:-1099.15,0,-1307.41:1306:664:626:18716:21169:664,626 . . 0/1:-1200.69,0,-1169.95:1308:602:672:19754:18969:602,672 . . . . . . . chr18 28649042 . T C 9340.93 . AB=0.524161;ABP=10.5653;AC=10;AF=0.5;AN=20;AO=781;CIGAR=1X;DP=12333;DPB=1490;DPRA=0;EPP=110.914;EPPR=145.728;GTI=0;LEN=1;MEANALT=3;MQM=33.6709;MQMR=35.89;NS=1;NUMALT=1;ODDS=2156.12;PAIRED=0.903969;PAIREDR=0.933014;PAO=0;PQA=0;PQR=0;PRO=0;QA=21051;QR=17341;RO=627;RPL=495;RPP=124.46;RPPR=62.4435;RPR=286;RUN=1;SAF=367;SAP=9.15215;SAR=414;SF=0,1;SRF=305;SRP=4.01119;SRR=322;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon15:c.A2326G:p.I776V,DSC2:NM_024422:exon15:c.A2326G:p.I776V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1912;esp6500siv2_ea=0.0837;esp6500siv2_all=0.1912;esp6500siv2_ea=0.0837;1000g2015aug_all=0.196486;avsnp147=rs1893963;Kaviar_AF=0.118148;Kaviar_AC=18266;Kaviar_AN=154602;ExAC_ALL=0.1190;ExAC_AFR=0.4196;ExAC_AMR=0.1784;ExAC_EAS=0.0968;ExAC_FIN=0.0593;ExAC_NFE=0.0842;ExAC_OTH=0.0993;ExAC_SAS=0.0654;CLNALLELEID=55343;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.155;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.54;MutationAssessor_pred=N;FATHMM_score=0.46;FATHMM_pred=T;PROVEAN_score=0.18;PROVEAN_pred=N;VEST3_score=0.01;CADD_raw=-1.683;CADD_phred=0.002;DANN_score=0.586;fathmm-MKL_coding_score=0.002;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.925;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.69;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.324;phastCons7way_vertebrate=0.571;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=10.511;GDI_full_10282015=.;dpsi_max_tissue=-0.0787;dpsi_zscore=-0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150230#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1148;gnomAD_exome_AFR=0.4181;gnomAD_exome_AMR=0.1760;gnomAD_exome_ASJ=0.1013;gnomAD_exome_EAS=0.1004;gnomAD_exome_FIN=0.0590;gnomAD_exome_NFE=0.0837;gnomAD_exome_OTH=0.0961;gnomAD_exome_SAS=0.0665;gnomAD_genome_ALL=0.1712;gnomAD_genome_AFR=0.3981;gnomAD_genome_AMR=0.1671;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.1047;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0794;gnomAD_genome_OTH=0.0996;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1219.63,0,-968.801:1490:627:781:21051:17341 . . . 0/1:-867.072,0,-1013.99:1309:633:592:15921:17055 . . 0/1:-913.52,0,-650.531:1049:432:547:14943:11760 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1042.46,0,-1091.52:1453:682:689:18391:18459 . . . . . . 0/1:-547.031,0,-470.235:669:283:346:9613:8020 . . . . . . . . . 0/1:-487.156,0,-382.834:670:292:323:8583:7324 . 0/1:-797.927,0,-783.061:1093:486:519:14286:13451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1017.78,0,-1228.88:1543:755:701:18864:20421 . . . . . 0/1:-1484.11,0,-1305.37:1444:667:742:22827:20688:667,742 . . . . . . . . . 0/1:-1418.61,0,-1692.7:1613:840:748:22945:25526:840,748 . . . . . . . . . chr18 28651588 . C T 6940.95 . AB=0.467909;ABP=11.6512;AC=1;AF=0.5;AN=2;AO=452;CIGAR=1X;DP=966;DPB=966;DPRA=0;EPP=76.8788;EPPR=54.0561;GTI=0;LEN=1;MEANALT=3;MQM=35.2699;MQMR=35.6588;NS=1;NUMALT=1;ODDS=1598.21;PAIRED=0.938053;PAIREDR=0.925373;PAO=0;PQA=0;PQR=0;PRO=0;QA=12364;QR=13047;RO=469;RPL=236;RPP=4.93196;RPPR=4.05205;RPR=216;RUN=1;SAF=284;SAP=67.6548;SAR=168;SF=0;SRF=267;SRP=22.5721;SRR=202;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon13:c.G2108A:p.G703D,DSC2:NM_024422:exon13:c.G2108A:p.G703D;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=2.74;MutationAssessor_pred=M;FATHMM_score=0.15;FATHMM_pred=T;PROVEAN_score=-5.08;PROVEAN_pred=D;VEST3_score=0.698;CADD_raw=6.930;CADD_phred=33;DANN_score=0.998;fathmm-MKL_coding_score=0.943;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.152;MetaSVM_pred=T;MetaLR_score=0.404;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.2;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.951;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.046;GDI_full_10282015=.;dpsi_max_tissue=0.3876;dpsi_zscore=1.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-716.201,0,-770.157:966:469:452:12364:13047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 28660232 . T C 3614.00 . AB=0.486747;ABP=3.64343;AC=1;AF=0.5;AN=2;AO=202;CIGAR=1X;DP=415;DPB=415;DPRA=0;EPP=3.3973;EPPR=3.02121;GTI=0;LEN=1;MEANALT=3;MQM=38.2277;MQMR=39.2764;NS=1;NUMALT=1;ODDS=832.155;PAIRED=0.955446;PAIREDR=0.959799;PAO=0;PQA=0;PQR=0;PRO=0;QA=5842;QR=5785;RO=199;RPL=103;RPP=3.1823;RPPR=25.1069;RPR=99;RUN=1;SAF=117;SAP=14.0182;SAR=85;SF=0;SRF=111;SRP=8.78271;SRR=88;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon10:c.A1350G:p.R450R,DSC2:NM_024422:exon10:c.A1350G:p.R450R;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0043;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0043;1000g2015aug_all=0.000199681;avsnp147=rs144242114;Kaviar_AF=0.0030983;Kaviar_AC=479;Kaviar_AN=154602;ExAC_ALL=0.0032;ExAC_AFR=0.0009;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0047;ExAC_OTH=0.0066;ExAC_SAS=0.0004;CLNALLELEID=44668;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1864850,OMIM:610476|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0281;dpsi_zscore=-1.486;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0031;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0030;gnomAD_exome_ASJ=0.0107;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0041;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR 0/1:-369.016,0,-373.406:415:199:202:5842:5785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 28666526 . TTG TTAATG 15975.66 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=802;CIGAR=1M3I1M;DP=109012;DPB=2154.5;DPRA=0;EPP=8.25216;EPPR=24.725;GTI=0;LEN=3;MEANALT=17;MQM=38.7955;MQMR=32.1;NS=1;NUMALT=1;ODDS=1049.16;PAIRED=0.968828;PAIREDR=0.9;PAO=1.5;PQA=0;PQR=0;PRO=1.5;QA=18167;QR=215;RO=10;RPL=236;RPP=297.865;RPPR=6.48466;RPR=566;RUN=1;SAF=493;SAP=94.6778;SAR=309;SF=0,1;SRF=3;SRP=6.48466;SRR=7;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.9965;esp6500siv2_ea=1;esp6500siv2_all=0.9965;esp6500siv2_ea=1;1000g2015aug_all=0.996006;avsnp147=rs35717505;Kaviar_AF=0.0292752;Kaviar_AC=4526;Kaviar_AN=154602;ExAC_ALL=0.9992;ExAC_AFR=0.9914;ExAC_AMR=0.9997;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=0.9999;CLNALLELEID=55368;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9994;gnomAD_exome_AFR=0.9909;gnomAD_exome_AMR=0.9998;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=0.9998;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9979;gnomAD_genome_AFR=0.9926;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=0.9990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:901:10:802:18167:215 1/1:.,.,0:1091:13:938:21557:282 1/1:.,.,0:936:13:820:18834:263 1/1:.,.,0:640:6:569:13169:102 1/1:.,.,0:1082:13:981:22211:301 1/1:.,.,0:1313:27:1154:26297:595 1/1:.,.,0:862:15:769:17140:329 1/1:.,.,0:1106:17:967:21877:357 1/1:.,.,0:876:10:791:17881:220 1/1:.,.,0:947:22:848:18501:495 1/1:.,.,0:856:19:748:17026:385 1/1:.,.,0:902:13:809:18654:288 1/1:.,.,0:929:9:852:19115:159 1/1:.,.,0:910:13:781:17549:271 1/1:.,.,0:781:16:688:15770:343 1/1:.,.,0:1350:21:1200:27390:440 1/1:.,.,0:763:6:685:15222:123 1/1:.,.,0:2021:38:1816:42095:809 1/1:.,.,0:981:14:874:20365:345 1/1:.,.,0:635:11:571:13118:249 1/1:.,.,0:752:13:662:15129:338 1/1:.,.,0:1059:11:924:21899:250 1/1:.,.,0:630:10:563:12556:205 1/1:.,.,0:1164:28:1017:23486:581 1/1:.,.,0:1160:19:1048:24133:437 1/1:.,.,0:737:24:645:14482:525 1/1:.,.,0:912:15:817:18764:344 1/1:.,.,0:1118:15:1001:23070:349 1/1:.,.,0:835:16:734:16078:347 1/1:.,.,0:669:11:624:14458:267 1/1:.,.,0:858:17:751:16958:368 1/1:.,.,0:1151:23:1031:23958:474 1/1:.,.,0:1031:17:908:21119:355 1/1:.,.,0:421:6:385:8868:111 1/1:.,.,0:901:15:805:18306:353 1/1:.,.,0:1127:21:1005:22702:417 1/1:.,.,0:487:15:437:9965:320 1/1:.,.,0:912:17:809:18693:366 1/1:.,.,0:1024:20:901:20308:456 1/1:.,.,0:550:6:505:11445:142 1/1:.,.,0:1057:10:946:21857:218 1/1:.,.,0:876:17:754:17531:391 1/1:.,.,0:890:15:805:18004:345 1/1:.,.,0:865:19:757:17029:400 1/1:.,.,0:1226:18:1089:25235:398 1/1:.,.,0:1024:10:905:20699:203 1/1:.,.,0:930:16:815:18175:361 1/1:.,.,0:518:3:475:11110:75 1/1:.,.,0:712:11:644:15156:254 1/1:.,.,0:1123:17:1004:23357:335 1/1:.,.,0:1098:23:974:21823:489 1/1:.,.,0:999:12:871:19986:254 1/1:.,.,0:1240:18:1108:25264:411 1/1:.,.,0:1220:20:1062:23825:426 1/1:.,.,0:793:13:686:15315:345 1/1:.,.,0:818:22:723:17184:461 1/1:.,.,0:981:18:868:19924:448 1/1:.,.,0:592:7:516:11755:133 1/1:.,.,0:711:11:640:14711:260 1/1:.,.,0:992:27:876:20138:570 1/1:.,.,0:659:17:576:12556:306 1/1:.,.,0:1218:22:1073:24800:485 1/1:.,.,0:950:9:860:19901:186 1/1:.,.,0:739:11:653:14452:253 1/1:.,.,0:1269:18:1154:26321:388 1/1:.,.,0:990:18:874:19892:398 1/1:.,.,0:562:8:497:10880:191 1/1:.,.,0:1010:15:887:20896:335 1/1:.,.,0:853:13:765:17340:278 1/1:.,.,0:1000:27:886:20002:588 1/1:.,.,0:985:13:881:19758:315 1/1:.,.,0:1258:10:1131:26031:233 1/1:.,.,0:1142:16:1038:23919:321 1/1:.,.,0:774:16:684:12984:331 1/1:.,.,0:769:8:700:15945:189 1/1:.,.,0:1254:20:1102:24867:452 1/1:.,.,0:1003:23:899:20785:515 1/1:.,.,0:1147:15:1033:24073:321 1/1:.,.,0:659:7:591:13532:170 1/1:.,.,0:726:13:640:14838:280 1/1:.,.,0:1125:16:991:22250:367 1/1:.,.,0:1147:15:1016:23592:318 1/1:.,.,0:1140:26:1002:22860:521 1/1:.,.,0:915:9:822:19131:210 1/1:.,.,0:782:13:674:15389:246 1/1:.,.,0:873:12:782:18067:263 1/1:.,.,0:665:12:598:13939:274 1/1:.,.,0:1019:22:922:21045:487 1/1:.,.,0:568:13:493:11206:285 1/1:.,.,0:894:16:784:17776:314 1/1:.,.,0:1307:21:1166:27066:447 1/1:.,.,0:896:17:794:18385:371 1/1:.,.,0:1129:28:986:22780:583 1/1:.,.,0:1051:17:934:21382:381 1/1:.,.,0:1114:25:994:22920:505 . 1/1:-2039.76,-297.105,0:1110:3:1003:23235:64:3,1003 1/1:-1842.78,-260.009,0:1039:10:913:21113:207:10,913 1/1:-2115.81,-300.313,0:1123:3:1014:24044:65:3,1014 1/1:-1240.9,-178.758,0:708:5:616:14193:118:5,616 1/1:-1698.63,-246.709,0:935:1:824:19262:25:1,824 1/1:-2040.17,-299.026,0:1111:2:996:23121:30:2,996 1/1:-1784.32,-259.653,0:982:3:877:20358:72:3,877 1/1:-1959.4,-285.899,0:1085:7:980:22372:171:7,980 1/1:-1666.9,-238.723,0:915:5:820:18978:108:5,820 1/1:-1782.3,-252.691,0:961:5:858:20319:113:5,858 1/1:-1833.25,-267.014,0:1005:4:907:20859:85:4,907 1/1:-1543.54,-214.6,0:794:3:723:17552:69:3,723 1/1:-1685.53,-237.649,0:909:7:818:19262:160:7,818 1/1:-1903,-267.712,0:997:4:909:21681:96:4,909 1/1:-1652.34,-245.339,0:898:0:813:18763:0:0,813 1/1:-1781.33,-254.405,0:973:5:874:20422:120:5,874 1/1:-1861.27,-265.446,0:1005:5:909:21198:121:5,909 1/1:-1693.78,-239.135,0:931:6:826:19330:128:6,826 1/1:-1736.38,-239.684,0:917:6:827:19829:139:6,827 1/1:-1820.22,-259.002,0:977:8:887:20846:176:8,887 chr18 28666574 . C T 12388.20 . AB=0.492785;ABP=3.63699;AC=1;AF=0.5;AN=2;AO=683;CIGAR=1X;DP=1386;DPB=1386;DPRA=0;EPP=95.9767;EPPR=24.4194;GTI=0;LEN=1;MEANALT=3;MQM=36.3353;MQMR=37.3607;NS=1;NUMALT=1;ODDS=2852.48;PAIRED=0.935578;PAIREDR=0.912023;PAO=0;PQA=0;PQR=0;PRO=0;QA=20578;QR=21257;RO=682;RPL=252;RPP=104.879;RPPR=44.3893;RPR=431;RUN=1;SAF=334;SAP=3.72565;SAR=349;SF=0;SRF=334;SRP=3.63436;SRR=348;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon7:c.G907A:p.V303M,DSC2:NM_024422:exon7:c.G907A:p.V303M;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00299521;avsnp147=rs145560678;Kaviar_AF=0.0010931;Kaviar_AC=169;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0;ExAC_AMR=8.64e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0073;CLNALLELEID=55367;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.024;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.796;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.861;MutationTaster_pred=N;MutationAssessor_score=2.145;MutationAssessor_pred=M;FATHMM_score=0.62;FATHMM_pred=T;PROVEAN_score=-2.53;PROVEAN_pred=D;VEST3_score=0.299;CADD_raw=5.929;CADD_phred=27.6;DANN_score=0.999;fathmm-MKL_coding_score=0.154;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.815;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.8;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.952;phastCons20way_mammalian=0.917;SiPhy_29way_logOdds=4.795;GDI_full_10282015=.;dpsi_max_tissue=-0.0383;dpsi_zscore=-0.210;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM117222#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0068;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-1266.78,0,-1336.47:1386:682:683:20578:21257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 28672067 . T C 8044.81 . AB=0.476676;ABP=6.25168;AC=2;AF=0.5;AN=4;AO=327;CIGAR=1X;DP=1734;DPB=686;DPRA=0;EPP=21.6637;EPPR=3.10957;GTI=0;LEN=1;MEANALT=3;MQM=40.4832;MQMR=40.3571;NS=1;NUMALT=1;ODDS=1402.99;PAIRED=0.975535;PAIREDR=0.968571;PAO=0;PQA=0;PQR=0;PRO=0;QA=9638;QR=11050;RO=350;RPL=117;RPP=60.4447;RPPR=72.7208;RPR=210;RUN=1;SAF=216;SAP=76.2228;SAR=111;SF=0;SRF=231;SRP=80.8359;SRR=119;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon3:c.A351G:p.T117T,DSC2:NM_024422:exon3:c.A351G:p.T117T;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0082;esp6500siv2_ea=0.0117;esp6500siv2_all=0.0082;esp6500siv2_ea=0.0117;1000g2015aug_all=0.00379393;avsnp147=rs117812913;Kaviar_AF=0.0087386;Kaviar_AC=1351;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0018;ExAC_AMR=0.0028;ExAC_EAS=0;ExAC_FIN=0.0187;ExAC_NFE=0.0127;ExAC_OTH=0.0066;ExAC_SAS=0.0025;CLNALLELEID=55353;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3412;dpsi_zscore=0.948;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0084;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0190;gnomAD_exome_NFE=0.0125;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0101;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0169;gnomAD_genome_NFE=0.0151;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-632.163,0,-744.836:686:350:327:9638:11050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1029.85,0,-1135.75:1048:534:501:15316:16621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 28673565 . T C 8008.27 . AB=0;ABP=0;AC=25;AF=1;AN=46;AO=599;CIGAR=1X;DP=17587;DPB=616;DPRA=0;EPP=485.973;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=40.6778;MQMR=32.5;NS=1;NUMALT=1;ODDS=818.365;PAIRED=0.973289;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=17196;QR=50;RO=2;RPL=312;RPP=5.27603;RPPR=3.0103;RPR=287;RUN=1;SAF=333;SAP=19.2837;SAR=266;SF=0,1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon2:c.A111G:p.L37L,DSC2:NM_024422:exon2:c.A111G:p.L37L;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1071;esp6500siv2_ea=0.1210;esp6500siv2_all=0.1071;esp6500siv2_ea=0.1210;1000g2015aug_all=0.123602;avsnp147=rs12954874;Kaviar_AF=0.113071;Kaviar_AC=17481;Kaviar_AN=154602;ExAC_ALL=0.1127;ExAC_AFR=0.0818;ExAC_AMR=0.1652;ExAC_EAS=0.1332;ExAC_FIN=0.0425;ExAC_NFE=0.1111;ExAC_OTH=0.0806;ExAC_SAS=0.1210;CLNALLELEID=55328;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1416;dpsi_zscore=-1.550;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1145;gnomAD_exome_AFR=0.0807;gnomAD_exome_AMR=0.1624;gnomAD_exome_ASJ=0.1418;gnomAD_exome_EAS=0.1304;gnomAD_exome_FIN=0.0385;gnomAD_exome_NFE=0.1129;gnomAD_exome_OTH=0.1188;gnomAD_exome_SAS=0.1219;gnomAD_genome_ALL=0.0998;gnomAD_genome_AFR=0.0819;gnomAD_genome_AMR=0.1541;gnomAD_genome_ASJ=0.1424;gnomAD_genome_EAS=0.1166;gnomAD_genome_FIN=0.0370;gnomAD_genome_NFE=0.1185;gnomAD_genome_OTH=0.1063;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-1497.54,-176.544,0:616:2:599:17196:50 . . . . . . . 0/1:-763.241,0,-827.74:798:402:387:11495:12218 . . . . . 0/1:-1035.13,0,-1547.58:1283:719:548:16190:21995 . . . . . 0/1:-781.305,0,-937.14:888:460:415:12125:13868 . . 0/1:-668.069,0,-637.121:645:306:326:9801:9463 . . . 0/1:-756.632,0,-732.511:767:365:386:11246:11035 0/1:-1067.82,0,-1009.9:1080:514:546:16016:15269 . . 0/1:-802.518,0,-937.416:913:464:431:12367:13969 . . 1/1:-2361.81,-262.959,0:992:13:956:27581:331 . . . . 0/1:-635.222,0,-640.21:643:308:319:9485:9424 . . . 0/1:-642.17,0,-714.698:707:351:342:9707:10641 . . . . . . . . . . . . . 0/1:-461.615,0,-622.834:568:303:249:7207:9210 . . . . . . . 0/1:-563.975,0,-438.499:517:228:275:8227:6869 . . . . . . . 0/1:-747.768,0,-643.354:717:326:380:10969:9830 . . . . . . 0/1:-744.276,0,-907.426:837:437:385:11352:13343 0/1:-843.622,0,-630.974:779:331:434:12390:9943 . . . . 0/1:-776.562,0,-950.151:919:470:424:12002:14059 . 0/1:-568.005,0,-894.572:747:431:306:9045:12915 . . . . . . . . . . . . . 0/1:-592.528,0,-657.551:578:288:281:8801:9517:288,281 . . 0/1:-573.44,0,-763.983:623:340:280:8668:10942:340,280 . 0/1:-572.128,0,-560.426:540:261:272:8379:8270:261,272 0/1:-754.343,0,-756.162:703:343:356:11083:11120:343,356 . 0/1:-624.064,0,-912.714:727:405:312:9715:13003:405,312 . . chr18 28681903 . T C,G 810.59 . AB=0.396761;ABP=25.8767;AC=1,0;AF=0.5;AN=10;AO=98;CIGAR=1X;DP=1121;DPB=247;DPRA=0;EPP=7.35324;EPPR=14.2373;GTI=0;LEN=1;MEANALT=3;MQM=37.4796;MQMR=37.844;NS=1;NUMALT=1;ODDS=373.289;PAIRED=0.806122;PAIREDR=0.794326;PAO=0;PQA=0;PQR=0;PRO=0;QA=2975;QR=3898;RO=141;RPL=39;RPP=11.8735;RPPR=3.1489;RPR=59;RUN=1;SAF=51;SAP=3.36483;SAR=47;SF=1;SRF=71;SRP=3.0257;SRR=70;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon1:c.A32G:p.N11S,DSC2:NM_024422:exon1:c.A32G:p.N11S;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0854633;avsnp147=rs868333;Kaviar_AF=0.0056015;Kaviar_AC=866;Kaviar_AN=154602;ExAC_ALL=0.0101;ExAC_AFR=0.2619;ExAC_AMR=0.0093;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0081;ExAC_OTH=0;ExAC_SAS=0.0012;CLNALLELEID=55356;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_pred=N;FATHMM_score=0.45;FATHMM_pred=T;PROVEAN_score=0.6;PROVEAN_pred=N;VEST3_score=0.008;CADD_raw=-0.961;CADD_phred=0.019;DANN_score=0.793;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.968;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=3.59;phyloP7way_vertebrate=-0.802;phyloP20way_mammalian=0.039;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=4.928;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0137;gnomAD_exome_AFR=0.2642;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0153;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0761;gnomAD_genome_AFR=0.2639;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon1:c.A32C:p.N11T,DSC2:NM_024422:exon1:c.A32C:p.N11T;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.53;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-0.03;PROVEAN_pred=N;VEST3_score=0.061;CADD_raw=0.576;CADD_phred=7.985;DANN_score=0.880;fathmm-MKL_coding_score=0.080;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.011;MetaSVM_pred=T;MetaLR_score=0.061;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=3.59;phyloP7way_vertebrate=-0.802;phyloP20way_mammalian=0.039;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=4.928;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-171.721,0,-248.593,.,.,.:247:141:98,.:2975,.:3898:141,98 0/0:0,.,.,-36.7231,.,-413.369:197:183:.,13:.,253:5143:183,13 . . . 0/0:0,.,.,-54.0628,.,-553.937:275:249:.,19:.,310:6937:249,19 . . . . 0/0:0,.,.,-43.2978,.,-438.1:198:186:.,10:.,178:5501:186,10 0/0:0,.,.,-38.0745,.,-396.998:204:183:.,12:.,234:4963:183,12 . . . . . . . . chr18 29078160 . G C 288.52 . AB=0.384615;ABP=9.02361;AC=1;AF=0.5;AN=2;AO=20;CIGAR=1X;DP=52;DPB=52;DPRA=0;EPP=3.0103;EPPR=11.486;GTI=0;LEN=1;MEANALT=2;MQM=39.95;MQMR=34.3226;NS=1;NUMALT=1;ODDS=66.4354;PAIRED=0.9;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=605;QR=979;RO=31;RPL=7;RPP=6.91895;RPPR=18.771;RPR=13;RUN=1;SAF=17;SAP=24.2907;SAR=3;SF=1;SRF=29;SRP=54.0749;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=DSG2;GeneDetail.refGene=NM_001943:c.-55G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs551539015;Kaviar_AF=0.0074535;Kaviar_AC=194;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=348180;CLNDN=Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0067;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-37.1644,0,-61.9915:52:31:20:605:979:31,20 . . . . . chr18 29078333 . C G,A 308.92 . AB=0.554054;ABP=4.88833;AC=5,0;AF=0.5;AN=12;AO=41;CIGAR=1X;DP=431;DPB=74;DPRA=0;EPP=7.30028;EPPR=26.4622;GTI=0;LEN=1;MEANALT=2;MQM=29.2927;MQMR=31.0333;NS=1;NUMALT=1;ODDS=53.5494;PAIRED=0.95122;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=987;QR=785;RO=30;RPL=32;RPP=31.0276;RPPR=21.5402;RPR=9;RUN=1;SAF=30;SAP=22.1298;SAR=11;SF=0,1;SRF=21;SRP=13.4334;SRR=9;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0189696;avsnp147=rs537762282;Kaviar_AF=0.003053;Kaviar_AC=472;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0218;gnomAD_genome_AFR=0.0350;gnomAD_genome_AMR=0.0192;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0186;gnomAD_genome_NFE=0.0168;gnomAD_genome_OTH=0.0297;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-53.1143,0,-34.5025,.,.,.:74:30:41,.:987,.:785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-43.5066,0,-77.6288,.,.,.:86:48:36,.:968,.:1400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-32.9552,0,-48.6427,.,.,.:57:32:22,.:609,.:861 . . . . . 0/1:-24.6112,0,-108.045,.,.,.:94:62:30,.:801,.:1652 . . . . . 0/1:-89.9381,0,-86.7315,.,.,.:85:42:42,.:1312,.:1288:42,42 0/0:0,.,.,-6.9738,.,-86.4463:35:33:.,2:.,41:1019:33,2 . . . . . . . . . . . . . . . . chr18 29101156 . T G 5152.55 . AB=0.486316;ABP=3.78289;AC=2;AF=0.5;AN=4;AO=231;CIGAR=1X;DP=1246;DPB=475;DPRA=0;EPP=145.228;EPPR=89.1872;GTI=0;LEN=1;MEANALT=2;MQM=35.1212;MQMR=35.8099;NS=1;NUMALT=1;ODDS=919.835;PAIRED=0.95671;PAIREDR=0.958678;PAO=0;PQA=0;PQR=0;PRO=0;QA=7238;QR=7642;RO=242;RPL=129;RPP=9.86313;RPPR=12.1987;RPR=102;RUN=1;SAF=110;SAP=4.14774;SAR=121;SF=0;SRF=125;SRP=3.58457;SRR=117;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon5:c.T473G:p.V158G;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0079;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0079;1000g2015aug_all=0.00139776;avsnp147=rs191143292;Kaviar_AF=0.0054592;Kaviar_AC=844;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0017;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0086;ExAC_NFE=0.0078;ExAC_OTH=0.0033;ExAC_SAS=0.0016;CLNALLELEID=53486;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Arrhythmogenic_right_ventricular_dysplasia,_familial_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:C1862511,OMIM:107970|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.32;MutationAssessor_pred=M;FATHMM_score=0.08;FATHMM_pred=T;PROVEAN_score=-6.55;PROVEAN_pred=D;VEST3_score=0.793;CADD_raw=4.014;CADD_phred=23.6;DANN_score=0.705;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.566;MetaSVM_pred=T;MetaLR_score=0.226;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=8.751;GDI_full_10282015=.;dpsi_max_tissue=-0.1450;dpsi_zscore=-0.570;hgmdCODING=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#17105751;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM070921#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0039;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0083;gnomAD_exome_NFE=0.0080;gnomAD_exome_OTH=0.0060;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0062;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0075;gnomAD_genome_NFE=0.0096;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-422.52,0,-466.503:475:242:231:7238:7642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-658.462,0,-730.702:771:381:388:11701:12116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29101213 . GTCTTTTTTTTTTTTTTTAATAAATAAATAC GTCTTTTTTTTTTTTTTAAATAAATAAATAC,GTCTTTTTTTTTTTTTTAATAAATAAATAC,TTTTTTTTTTTTTTTTTTAATAAATAAATAC,TTCTTTTTTTTTTTTTTTAATAAATAAATAC 91.06 . AB=0;ABP=0;AC=5,1,0,0;AF=1;AN=36;AO=53;CIGAR=17M1X13M;DP=9161;DPB=426.387;DPRA=0;EPP=7.96781;EPPR=4.56135;GTI=0;LEN=1;MEANALT=186;MQM=36.8491;MQMR=31.6857;NS=1;NUMALT=1;ODDS=51.5166;PAIRED=0.943396;PAIREDR=0.8;PAO=17.0833;PQA=488.75;PQR=595.75;PRO=21.0833;QA=1249;QR=1038;RO=35;RPL=27;RPP=3.05127;RPPR=6.05036;RPR=26;RUN=1;SAF=38;SAP=24.6841;SAR=15;SF=1;SRF=25;SRP=16.9698;SRR=10;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1045;esp6500siv2_ea=0.0699;esp6500siv2_all=0.1045;esp6500siv2_ea=0.0699;1000g2015aug_all=0.141374;avsnp147=rs55657337;Kaviar_AF=0.0143012;Kaviar_AC=2211;Kaviar_AN=154602;ExAC_ALL=0.1037;ExAC_AFR=0.2624;ExAC_AMR=0.0531;ExAC_EAS=0.0422;ExAC_FIN=0.0739;ExAC_NFE=0.1127;ExAC_OTH=0.0929;ExAC_SAS=0.0682;CLNALLELEID=186570;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0182;dpsi_zscore=-0.092;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0970;gnomAD_exome_AFR=0.2765;gnomAD_exome_AMR=0.0563;gnomAD_exome_ASJ=0.1249;gnomAD_exome_EAS=0.0355;gnomAD_exome_FIN=0.0707;gnomAD_exome_NFE=0.1085;gnomAD_exome_OTH=0.0992;gnomAD_exome_SAS=0.0633;gnomAD_genome_ALL=0.1473;gnomAD_genome_AFR=0.2745;gnomAD_genome_AMR=0.0748;gnomAD_genome_ASJ=0.1376;gnomAD_genome_EAS=0.0323;gnomAD_genome_FIN=0.0584;gnomAD_genome_NFE=0.1114;gnomAD_genome_OTH=0.1170;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770232324;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.3692;ExAC_AFR=0.3207;ExAC_AMR=0.4005;ExAC_EAS=0.3458;ExAC_FIN=0.3699;ExAC_NFE=0.3557;ExAC_OTH=0.3891;ExAC_SAS=0.4246;CLNALLELEID=186571;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3956;gnomAD_exome_AFR=0.3637;gnomAD_exome_AMR=0.4310;gnomAD_exome_ASJ=0.4303;gnomAD_exome_EAS=0.4118;gnomAD_exome_FIN=0.3573;gnomAD_exome_NFE=0.3808;gnomAD_exome_OTH=0.4093;gnomAD_exome_SAS=0.4327;gnomAD_genome_ALL=0.0184;gnomAD_genome_AFR=0.0109;gnomAD_genome_AMR=0.0635;gnomAD_genome_ASJ=0.0325;gnomAD_genome_EAS=0.0224;gnomAD_genome_FIN=0.1193;gnomAD_genome_NFE=0.0109;gnomAD_genome_OTH=0.0267;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_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GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-23.4833,-23.7145,0,.,.,.,.,.,.,.,.,.,.,.,.:419:35:53,.,.,.:1249,.,.,.:1038:35,53 . 0/0:0,.,.,-9.52608,.,-158.008,.,.,.,.,.,.,.,.,.:559:99:.,50,.,.:.,1089,.,.:2950:99,50 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-728.46:422:359:.,.,.,53:.,.,.,1027:10655:359,53 0/0:0,.,.,-24.9584,.,-138.07,-43.716,.,-168.542,-152.667,.,.,.,.,.:513:80:.,46,26,.:.,907,442,.:2405:80,26,46 0/0:0,.,.,-18.4511,.,-199.56,-45.1324,.,-224.526,-222.353,.,.,.,.,.:634:109:.,57,38,.:.,1134,661,.:3298:109,38,57 1/1:-22.369,-1.88223,0,.,.,.,.,.,.,.,.,.,.,.,.:585:52:75,.,.,.:1801,.,.,.:1524:52,75 0/1:-86.8456,0,-33.1317,.,.,.,.,.,.,.,.,.,.,.,.:622:43:85,.,.,.:2079,.,.,.:1266:43,85 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-985.083:596:504:.,.,.,84:.,.,.,1627:14888:504,84 0/0:0,.,.,-20.0951,.,-94.5627,-27.4211,.,-115.363,-100.748,.,.,.,.,.:377:53:.,35,20,.:.,566,341,.:1602:53,20,35 0/0:0,.,.,-12.2158,.,-127.636,-45.3463,.,-159.136,-155.463,.,.,.,.,.:527:82:.,45,37,.:.,1017,548,.:2457:82,37,45 0/0:0,.,.,-7.30047,.,-109.774,-16.8513,.,-113.984,-114.574,.,.,.,.,.:410:69:.,39,31,.:.,832,549,.:2014:69,31,39 0/0:0,.,.,-13.3191,.,-126.8,-37.17,.,-151.027,-142.609,.,.,.,.,.:440:69:.,39,24,.:.,869,411,.:2103:69,24,39 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1086.34:614:532:.,.,.,79:.,.,.,1410:15664:532,79 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-969.282:546:476:.,.,.,65:.,.,.,1269:14453:476,65 . 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1017.6:617:515:.,.,.,97:.,.,.,1833:15727:515,97 0/0:0,.,.,-1.95904,.,-124.643,-36.4389,.,-146.031,-155.634,.,.,.,.,.:485:85:.,40,26,.:.,911,429,.:2494:85,26,40 0/0:0,.,.,-7.39751,.,-137.465,-17.5,.,-140.518,-142.3,.,.,.,.,.:435:70:.,41,27,.:.,852,461,.:2084:70,27,41 0/2:-22.5034,.,.,0,.,-75.647,.,.,.,.,.,.,.,.,.:360:53:.,38,.,.:.,1035,.,.:1573:53,38 chr18 29101214 . TCTTTTTTTTTTTTTTTAATAAATAAATAC TCTTTTTTTTTTTTTTAAATAAATAAATAC,TCTTTTTTTTTTTTTTAATAAATAAATAC,TTTTTTTTTTTTTTTTTAATAAATAAATAC 301.42 . AB=0.0967742,0.0527859;ABP=484.587,595.389;AC=4,0,0;AF=0.5,0;AN=10;AO=33,18;CIGAR=16M1X13M,1M1X28M;DP=2322;DPB=354.367;DPRA=0,0;EPP=3.0761,26.6552;EPPR=4.33437;GTI=0;LEN=1,1;MEANALT=155,155;MQM=36.9394,27.2778;MQMR=34.0244;NS=1;NUMALT=2;ODDS=12.2158;PAIRED=1,0.888889;PAIREDR=0.902439;PAO=27,10;PQA=778.167,262.667;PQR=953.167;PRO=33;QA=780,295;QR=1210;RO=41;RPL=14,2;RPP=4.65535,26.6552;RPPR=4.33437;RPR=19,16;RUN=1,1;SAF=16,0;SAP=3.0761,42.0968;SAR=17,18;SF=1;SRF=22;SRP=3.48696;SRR=19;TYPE=snp,snp;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1045;esp6500siv2_ea=0.0699;esp6500siv2_all=0.1045;esp6500siv2_ea=0.0699;1000g2015aug_all=0.141374;avsnp147=rs55657337;Kaviar_AF=0.0143012;Kaviar_AC=2211;Kaviar_AN=154602;ExAC_ALL=0.1037;ExAC_AFR=0.2624;ExAC_AMR=0.0531;ExAC_EAS=0.0422;ExAC_FIN=0.0739;ExAC_NFE=0.1127;ExAC_OTH=0.0929;ExAC_SAS=0.0682;CLNALLELEID=186570;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0182;dpsi_zscore=-0.092;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0970;gnomAD_exome_AFR=0.2765;gnomAD_exome_AMR=0.0563;gnomAD_exome_ASJ=0.1249;gnomAD_exome_EAS=0.0355;gnomAD_exome_FIN=0.0707;gnomAD_exome_NFE=0.1085;gnomAD_exome_OTH=0.0992;gnomAD_exome_SAS=0.0633;gnomAD_genome_ALL=0.1473;gnomAD_genome_AFR=0.2745;gnomAD_genome_AMR=0.0748;gnomAD_genome_ASJ=0.1376;gnomAD_genome_EAS=0.0323;gnomAD_genome_FIN=0.0584;gnomAD_genome_NFE=0.1114;gnomAD_genome_OTH=0.1170;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770232324;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.3692;ExAC_AFR=0.3207;ExAC_AMR=0.4005;ExAC_EAS=0.3458;ExAC_FIN=0.3699;ExAC_NFE=0.3557;ExAC_OTH=0.3891;ExAC_SAS=0.4246;CLNALLELEID=186571;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3956;gnomAD_exome_AFR=0.3637;gnomAD_exome_AMR=0.4310;gnomAD_exome_ASJ=0.4303;gnomAD_exome_EAS=0.4118;gnomAD_exome_FIN=0.3573;gnomAD_exome_NFE=0.3808;gnomAD_exome_OTH=0.4093;gnomAD_exome_SAS=0.4327;gnomAD_genome_ALL=0.0184;gnomAD_genome_AFR=0.0109;gnomAD_genome_AMR=0.0635;gnomAD_genome_ASJ=0.0325;gnomAD_genome_EAS=0.0224;gnomAD_genome_FIN=0.1193;gnomAD_genome_NFE=0.0109;gnomAD_genome_OTH=0.0267;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs587780926;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=140865;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0150;dpsi_zscore=-0.072;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-0.669307,0,-42.4113,.,.,.,-32.9588,-70.4869,.,-76.3837:341:41:33,.,18:780,.,295:1210:41,33,18 . . . . 0/1:-51.8506,0,-55.0416,.,.,.,.,.,.,.:500:52:68,.,.:1722,.,.:1532:52,68 . . . . 0/1:-66.5528,0,-12.8865,.,.,.,.,.,.,.:516:48:87,.,.:2175,.,.:1386:48,87 0/1:-24.27,0,-45.2041,.,.,.,.,.,.,.:463:45:46,.,.:1188,.,.:1345:45,46 . 0/0:0,.,.,-11.013,.,-167.669,-35.9278,.,-184.935,-188.741:502:100:.,50,43:.,1113,656:2911:100,50,43 . . . chr18 29101215 . CTTTTTTTTTTTTTTTA CTTTTTTTTTTTTTA,CTTTTTTTTTTTTTTA 468.34 . AB=0.27027;ABP=172.62;AC=1,2;AF=0.5;AN=6;AO=100;CIGAR=1M2D14M;DP=1268;DPB=372.824;DPRA=0;EPP=20.0346;EPPR=5.79424;GTI=0;LEN=2;MEANALT=66;MQM=32.11;MQMR=32.0513;NS=1;NUMALT=1;ODDS=174.289;PAIRED=0.97;PAIREDR=0.935897;PAO=24.5;PQA=541.5;PQR=541.5;PRO=24.5;QA=2091;QR=2356;RO=78;RPL=40;RPP=11.6962;RPPR=5.79424;RPR=60;RUN=1;SAF=72;SAP=45.05;SAR=28;SF=0;SRF=62;SRP=61.9184;SRR=16;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs746122701;Kaviar_AF=0.0095212;Kaviar_AC=1472;Kaviar_AN=154602;ExAC_ALL=0.0151;ExAC_AFR=0.0076;ExAC_AMR=0.0166;ExAC_EAS=0.0120;ExAC_FIN=0.0156;ExAC_NFE=0.0182;ExAC_OTH=0.0051;ExAC_SAS=0.0083;CLNALLELEID=468882;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10;CLNDISDB=MedGen:C1857777,OMIM:610193;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0098;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0082;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0.0038;gnomAD_exome_FIN=0.0183;gnomAD_exome_NFE=0.0125;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0064;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0076;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0134;gnomAD_genome_NFE=0.0096;gnomAD_genome_OTH=0.0126;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770232324;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.3692;ExAC_AFR=0.3207;ExAC_AMR=0.4005;ExAC_EAS=0.3458;ExAC_FIN=0.3699;ExAC_NFE=0.3557;ExAC_OTH=0.3891;ExAC_SAS=0.4246;CLNALLELEID=186571;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3956;gnomAD_exome_AFR=0.3637;gnomAD_exome_AMR=0.4310;gnomAD_exome_ASJ=0.4303;gnomAD_exome_EAS=0.4118;gnomAD_exome_FIN=0.3573;gnomAD_exome_NFE=0.3808;gnomAD_exome_OTH=0.4093;gnomAD_exome_SAS=0.4327;gnomAD_genome_ALL=0.0184;gnomAD_genome_AFR=0.0109;gnomAD_genome_AMR=0.0635;gnomAD_genome_ASJ=0.0325;gnomAD_genome_EAS=0.0224;gnomAD_genome_FIN=0.1193;gnomAD_genome_NFE=0.0109;gnomAD_genome_OTH=0.0267;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-96.6306,0,-89.3921,.,.,.:370:78:100,.:2091,.:2356 . . . . . . . . . . . . . . . . . . . 0/2:-38.4736,.,.,0,.,-193.622:379:126:.,76:.,1397:3770 . . . . . 0/2:-52.8203,.,.,0,.,-322.422:519:201:.,104:.,2050:6120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29104564 . C A 7433.57 . AB=0.524752;ABP=7.31025;AC=48;AF=0.5;AN=88;AO=424;CIGAR=1X;DP=31287;DPB=808;DPRA=0;EPP=12.9253;EPPR=15.5345;GTI=0;LEN=1;MEANALT=2;MQM=39.934;MQMR=40.611;NS=1;NUMALT=1;ODDS=1726.68;PAIRED=1;PAIREDR=0.981723;PAO=0;PQA=0;PQR=0;PRO=0;QA=12225;QR=11624;RO=383;RPL=196;RPP=8.25461;RPPR=11.6338;RPR=228;RUN=1;SAF=258;SAP=46.3578;SAR=166;SF=0,1;SRF=225;SRP=28.4613;SRR=158;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.2182;esp6500siv2_ea=0.2609;esp6500siv2_all=0.2182;esp6500siv2_ea=0.2609;1000g2015aug_all=0.211462;avsnp147=rs3737378;Kaviar_AF=0.244977;Kaviar_AC=37874;Kaviar_AN=154602;ExAC_ALL=0.2513;ExAC_AFR=0.1151;ExAC_AMR=0.2919;ExAC_EAS=0.2973;ExAC_FIN=0.3388;ExAC_NFE=0.2552;ExAC_OTH=0.2585;ExAC_SAS=0.2270;CLNALLELEID=256649;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4106;dpsi_zscore=1.034;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2558;gnomAD_exome_AFR=0.1112;gnomAD_exome_AMR=0.2979;gnomAD_exome_ASJ=0.1725;gnomAD_exome_EAS=0.2919;gnomAD_exome_FIN=0.3371;gnomAD_exome_NFE=0.2574;gnomAD_exome_OTH=0.2443;gnomAD_exome_SAS=0.2256;gnomAD_genome_ALL=0.2343;gnomAD_genome_AFR=0.1201;gnomAD_genome_AMR=0.3389;gnomAD_genome_ASJ=0.1788;gnomAD_genome_EAS=0.2865;gnomAD_genome_FIN=0.3379;gnomAD_genome_NFE=0.2649;gnomAD_genome_OTH=0.2561;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-807.546,0,-762.727:808:383:424:12225:11624 . 0/1:-718.552,0,-775.455:766:381:381:10845:11677 0/1:-570.043,0,-767.038:664:366:297:8901:11161 . . 0/1:-779.171,0,-819.298:808:401:401:11745:12198 . . 0/1:-582.147,0,-683.812:671:342:327:9109:10212 1/1:-2213.09,-200.782,0:937:31:902:26324:914 . . . . 0/1:-556.721,0,-732.629:663:344:316:8818:10657 0/1:-824.045,0,-991.102:927:473:450:12849:14640 0/1:-423.321,0,-591.223:513:286:227:6835:8581 1/1:-1931.46,-207.057,0:810:14:791:22759:399 . 0/1:-526.701,0,-665.395:631:326:300:8509:9804 . . 0/1:-495.965,0,-609.211:579:300:274:7825:9085 0/1:-489.091,0,-550.3:542:276:265:7612:8326 . . 0/1:-807.336,0,-888.045:860:421:435:12418:13253 . 0/1:-703.8,0,-881.967:830:439:386:10989:13049 . 0/1:-832.613,0,-773.415:827:389:433:12582:11832 1/1:-2299.14,-261.038,0:936:9:924:27063:222 . 0/1:-492.239,0,-507.434:517:253:259:7540:7666 . 0/1:-552.133,0,-812.364:678:379:295:8775:11706 0/1:-756.678,0,-773.684:810:386:418:11601:11808 0/1:-805.501,0,-980.027:926:481:440:12598:14528 0/1:-983.316,0,-985.4:1007:497:505:14790:14898 . 0/1:-679.911,0,-732.885:741:362:376:10407:11028 . . . . . . . . . . 0/1:-421.849,0,-466.011:472:232:236:6502:7046 . . 0/1:-456.771,0,-671.143:590:327:259:7316:9822 0/1:-689.977,0,-961.728:870:466:396:11173:14070 . 0/1:-503.876,0,-750.674:631:351:277:8052:10914 . . 0/1:-474.343,0,-604.959:574:306:263:7553:9073 . . . . 1/1:-2042.59,-222.323,0:826:10:813:23929:299 . . . 0/1:-860.047,0,-932.717:927:460:463:13162:14023 . . . 0/1:-493.342,0,-494.168:508:252:253:7492:7487 . . 0/1:-712.732,0,-934.342:837:444:389:11201:13608 . . 0/1:-530.219,0,-714.637:653:348:302:8476:10571 0/1:-663.515,0,-768.421:730:376:350:10187:11423 0/1:-954.06,0,-813.971:904:421:477:14098:12588 . . . 0/1:-591.574,0,-655.687:631:314:314:9009:9816 0/1:-854.124,0,-1133.65:1008:543:462:13422:16666 . . . . . 0/1:-618.603,0,-767.586:651:341:308:9408:11104:341,308 0/1:-335.867,0,-335.345:326:156:169:5022:5013:156,169 0/1:-544.602,0,-681.388:583:306:274:8421:9921:306,274 . . 0/1:-541.044,0,-645.106:560:290:268:8160:9361:290,268 . . . . 0/1:-500.299,0,-665.433:554:296:255:7698:9544:296,255 . . 0/1:-582.664,0,-703.741:603:313:286:8875:10211:313,286 . . . 0/1:-375.485,0,-457.57:398:206:189:5681:6620:206,189 chr18 29104698 . C T 10406.99 . AB=0.531092;ABP=8.00651;AC=86;AF=0.5;AN=138;AO=316;CIGAR=1X;DP=53135;DPB=595;DPRA=0;EPP=6.96843;EPPR=19.9031;GTI=0;LEN=1;MEANALT=3;MQM=40.1487;MQMR=40.4779;NS=1;NUMALT=1;ODDS=1184.48;PAIRED=0.987342;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9564;QR=8077;RO=272;RPL=166;RPP=4.76947;RPPR=19.9031;RPR=150;RUN=1;SAF=170;SAP=6.96843;SAR=146;SF=0,1;SRF=160;SRP=21.4039;SRR=112;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.C861T:p.N287N;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.5059;esp6500siv2_ea=0.3787;esp6500siv2_all=0.5059;esp6500siv2_ea=0.3787;1000g2015aug_all=0.526558;avsnp147=rs2230233;Kaviar_AF=0.408766;Kaviar_AC=63196;Kaviar_AN=154602;ExAC_ALL=0.4116;ExAC_AFR=0.8002;ExAC_AMR=0.4009;ExAC_EAS=0.4927;ExAC_FIN=0.4107;ExAC_NFE=0.3687;ExAC_OTH=0.3789;ExAC_SAS=0.3219;CLNALLELEID=53496;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0300;dpsi_zscore=0.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4077;gnomAD_exome_AFR=0.8037;gnomAD_exome_AMR=0.4123;gnomAD_exome_ASJ=0.3189;gnomAD_exome_EAS=0.4905;gnomAD_exome_FIN=0.4102;gnomAD_exome_NFE=0.3718;gnomAD_exome_OTH=0.3754;gnomAD_exome_SAS=0.3217;gnomAD_genome_ALL=0.5053;gnomAD_genome_AFR=0.7865;gnomAD_genome_AMR=0.4665;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.4920;gnomAD_genome_FIN=0.4029;gnomAD_genome_NFE=0.3792;gnomAD_genome_OTH=0.4020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-644.74,0,-527.784:595:272:316:9564:8077 . 1/1:-2061.07,-230.002,0:793:2:783:24056:72 0/1:-833.271,0,-796.875:804:392:399:12429:11961 1/1:-1963.68,-183.167,0:817:24:787:23493:706 0/1:-645.5,0,-652.374:626:314:310:9653:9687 . 0/1:-830.918,0,-816.798:851:409:427:12558:12332 0/1:-763.193,0,-730.449:746:362:373:11467:10991 . . 1/1:-1808.09,-176.413,0:703:12:688:21337:387 1/1:-2519.42,-270.379,0:982:10:965:29379:262 . . 0/1:-757.346,0,-890.815:810:423:374:11525:13145 . 0/1:-537.828,0,-582.886:594:297:289:8348:8701 0/1:-1043.06,0,-1072.76:1063:530:519:15724:15948 0/1:-527.145,0,-569.824:565:283:272:8095:8554 1/1:-2216.61,-234.018,0:877:10:861:26342:335 0/1:-910.627,0,-900.832:910:449:451:13728:13553 0/1:-616.395,0,-657.508:654:329:314:9367:9948 . 0/1:-810.466,0,-957.012:894:457:417:12473:14118 0/1:-514.225,0,-609.555:581:305:264:8006:9150 1/1:-1338.54,-141.694,0:526:6:514:15645:179 . . 0/1:-862.321,0,-816.802:841:414:418:12884:12303 0/1:-775.087,0,-936.972:865:454:399:11929:13729 0/1:-860.056,0,-780.226:802:378:419:12821:11784 . 0/1:-902.37,0,-752.32:846:389:447:13451:11693 1/1:-2416.19,-258.52,0:957:10:932:28403:282 0/1:-767.957,0,-677.052:726:344:377:11472:10431 1/1:-1297.61,-148.791,0:516:2:507:15035:50 . 0/1:-710.434,0,-746.515:726:368:351:10794:11070 1/1:-1988.68,-219.052,0:759:3:750:23019:86 0/1:-779.192,0,-944.87:882:463:404:12108:13796 1/1:-2775.02,-295.056,0:1098:13:1071:32550:354 0/1:-777.293,0,-898.097:835:436:392:11933:13462 0/1:-709.427,0,-845.837:793:420:363:10906:12426 . 0/1:-658.726,0,-802.251:728:386:332:10167:11739 . 0/1:-786.885,0,-927.291:861:446:406:12214:13648 . . 0/1:-856.574,0,-866.004:847:414:431:12800:12829 0/1:-583.159,0,-726.635:664:352:298:9146:10730 0/1:-654.772,0,-609.284:631:306:316:9669:9318 . 1/1:-1171.35,-118.37,0:488:9:472:13802:311 0/1:-645.938,0,-538.261:615:280:326:9723:8367 0/1:-850.948,0,-769.458:801:381:410:12641:11630 0/1:-599.068,0,-569.823:595:291:295:9049:8694 0/1:-961.858,0,-1021.94:970:488:474:14513:15211 . 0/1:-539.314,0,-695.872:636:337:286:8553:10218 . . 0/1:-565.289,0,-587.589:613:305:294:8698:9007 . 0/1:-571.81,0,-479.157:528:250:274:8417:7378 . 0/1:-665.856,0,-701.227:701:346:342:10231:10585 1/1:-2274.76,-243.526,0:877:7:866:26570:218 . . . 0/1:-779.497,0,-996.014:903:481:404:12180:14572 . . . 0/1:-637.183,0,-549.414:611:282:319:9537:8501 . . 0/1:-878.091,0,-968.513:928:477:434:13426:14315 0/1:-837.918,0,-825.398:824:405:408:12521:12339 . 0/1:-607.117,0,-722.329:688:367:308:9394:10747 1/1:-1775.57,-175.554,0:707:12:686:20846:391 1/1:-2260.16,-247.802,0:892:7:878:26449:218 . . . 0/1:-584.861,0,-710.383:648:344:297:9063:10514 0/1:-995.33,0,-1132.81:1076:553:511:15401:16758 . 1/1:-1911.08,-187.911,0:786:16:763:22937:527 . 0/1:-603.012,0,-815.799:671:372:286:9188:11682:372,286 . 0/1:-1074.83,0,-1039.89:991:487:494:15733:15347:487,494 1/1:-1271.93,-111.993,0:489:12:472:15027:382:12,472 0/1:-802.919,0,-955.78:822:436:382:12218:13805:436,382 . 0/1:-899.231,0,-942.786:853:423:419:13418:13697:423,419 1/1:-2286.36,-191.668,0:899:26:864:27243:873:26,864 0/1:-820.457,0,-888.47:781:398:376:12082:12860:398,376 . . . 0/1:-830.626,0,-903.566:821:421:393:12439:13222:421,393 0/1:-858.555,0,-929.333:850:431:401:12776:13640:431,401 0/1:-911.116,0,-817.83:823:394:421:13356:12354:394,421 0/1:-891.8,0,-924.312:842:418:418:13227:13486:418,418 . . . 0/1:-775.145,0,-593.074:638:282:349:11122:8968:282,349 chr18 29104711 . C T 7156.19 . AB=0.538352;ABP=12.0046;AC=1;AF=0.5;AN=2;AO=379;CIGAR=1X;DP=704;DPB=704;DPRA=0;EPP=3.06187;EPPR=10.4223;GTI=0;LEN=1;MEANALT=3;MQM=39.8971;MQMR=40.7233;NS=1;NUMALT=1;ODDS=1286.69;PAIRED=0.970976;PAIREDR=0.976667;PAO=0;PQA=0;PQR=0;PRO=0;QA=10813;QR=8914;RO=300;RPL=134;RPP=73.6032;RPPR=18.3264;RPR=245;RUN=1;SAF=178;SAP=6.04119;SAR=201;SF=0;SRF=147;SRP=3.27088;SRR=153;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.C874T:p.R292C;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770921270;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.313e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=468905;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10;CLNDISDB=MedGen:C1857777,OMIM:610193;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.585;MutationAssessor_pred=M;FATHMM_score=0.54;FATHMM_pred=T;PROVEAN_score=-6.77;PROVEAN_pred=D;VEST3_score=0.901;CADD_raw=6.475;CADD_phred=30;DANN_score=0.999;fathmm-MKL_coding_score=0.900;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.370;MetaSVM_pred=T;MetaLR_score=0.329;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.35;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.864;phastCons20way_mammalian=0.938;SiPhy_29way_logOdds=8.554;GDI_full_10282015=.;dpsi_max_tissue=-0.1424;dpsi_zscore=-0.563;hgmdCODING=HGMD::Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy#21606396;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM114484#"Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy";gnomAD_exome_ALL=4.877e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.587e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-732.746,0,-570.624:704:300:379:10813:8914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29104714 . A G 8375.64 . AB=0.442827;ABP=30.323;AC=19;AF=0.5;AN=36;AO=426;CIGAR=1X;DP=16016;DPB=962;DPRA=0;EPP=27.9873;EPPR=5.83321;GTI=0;LEN=1;MEANALT=3;MQM=39.8122;MQMR=40.2308;NS=1;NUMALT=1;ODDS=1818.25;PAIRED=0.974178;PAIREDR=0.984615;PAO=0;PQA=0;PQR=0;PRO=0;QA=12857;QR=15910;RO=520;RPL=138;RPP=117.701;RPPR=123.694;RPR=288;RUN=1;SAF=184;SAP=20.1578;SAR=242;SF=0,1;SRF=246;SRP=6.28421;SRR=274;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.A877G:p.I293V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0636;esp6500siv2_ea=0.0859;esp6500siv2_all=0.0636;esp6500siv2_ea=0.0859;1000g2015aug_all=0.0323482;avsnp147=rs2230234;Kaviar_AF=0.0683626;Kaviar_AC=10569;Kaviar_AN=154602;ExAC_ALL=0.0687;ExAC_AFR=0.0150;ExAC_AMR=0.0408;ExAC_EAS=0.0002;ExAC_FIN=0.1450;ExAC_NFE=0.0887;ExAC_OTH=0.0889;ExAC_SAS=0.0433;CLNALLELEID=53498;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.871;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.073;MutationTaster_pred=P;MutationAssessor_score=1.075;MutationAssessor_pred=L;FATHMM_score=0.98;FATHMM_pred=T;PROVEAN_score=-0.87;PROVEAN_pred=N;VEST3_score=0.086;CADD_raw=3.997;CADD_phred=23.6;DANN_score=0.998;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.048;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.35;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.853;phastCons20way_mammalian=0.949;SiPhy_29way_logOdds=12.080;GDI_full_10282015=.;dpsi_max_tissue=0.2516;dpsi_zscore=0.816;hgmdCODING=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#24125834;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1312995#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=0.0692;gnomAD_exome_AFR=0.0129;gnomAD_exome_AMR=0.0390;gnomAD_exome_ASJ=0.0763;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1455;gnomAD_exome_NFE=0.0869;gnomAD_exome_OTH=0.0816;gnomAD_exome_SAS=0.0448;gnomAD_genome_ALL=0.0710;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1514;gnomAD_genome_NFE=0.0929;gnomAD_genome_OTH=0.0969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-814.719,0,-1088.45:962:520:426:12857:15910 0/1:-818.414,0,-1154.27:1010:545:448:12900:16784 . . . . . . . 0/1:-1004.61,0,-1073.52:1069:530:519:15353:16141 . . . . . . . . . . . . . . . . . . . . . 0/1:-967.34,0,-1162.69:1044:533:493:14668:16877 . . . . 0/1:-763.578,0,-985.786:898:471:413:11977:14647 . . . . . . . . . . 0/1:-366.14,0,-482.004:455:239:207:5831:7221 . . . 0/1:-745.16,0,-1043.47:956:516:429:12023:15484 0/1:-958.258,0,-970.275:979:474:495:14462:14501 . . . . . . . . . . . . . . 1/1:-2128.21,-211.449,0:913:22:871:25154:672 . 0/1:-727.191,0,-1080.26:936:518:399:11570:15691 . . . 0/1:-509.408,0,-544.343:584:290:283:7938:8425 . . 0/1:-644.46,0,-977.828:807:447:349:10239:14056 0/1:-979.036,0,-1040.3:1037:512:507:14890:15716 . . . . . . . . . . 0/1:-437.401,0,-501.807:489:248:232:6814:7586 . 0/1:-1173.68,0,-1366.37:1289:647:612:18011:20186 . . 0/1:-735.157,0,-1050.04:884:478:395:11600:15083 . . 0/1:-835.591,0,-849.383:787:385:395:12300:12472:385,395 . . . . . . . . . . . . . 0/1:-904.705,0,-985.766:917:458:437:13633:14556:458,437 . . . . . chr18 29118769 . G C 8478.99 . AB=0.492013;ABP=3.53062;AC=1;AF=0.5;AN=2;AO=462;CIGAR=1X;DP=939;DPB=939;DPRA=0;EPP=3.0855;EPPR=3.57293;GTI=0;LEN=1;MEANALT=3;MQM=38.7446;MQMR=39.6424;NS=1;NUMALT=1;ODDS=1952.36;PAIRED=0.952381;PAIREDR=0.961456;PAO=0;PQA=0;PQR=0;PRO=0;QA=13754;QR=14422;RO=467;RPL=121;RPP=230.498;RPPR=169.107;RPR=341;RUN=1;SAF=218;SAP=6.18761;SAR=244;SF=0;SRF=234;SRP=3.01495;SRR=233;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon12:c.G1707C:p.Q569H;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs370097438;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.314e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.997e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.155;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.546;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.15;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.079;CADD_raw=0.970;CADD_phred=10.49;DANN_score=0.940;fathmm-MKL_coding_score=0.030;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.977;MetaSVM_pred=T;MetaLR_score=0.110;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-4.3;phyloP7way_vertebrate=-0.726;phyloP20way_mammalian=0.079;phastCons7way_vertebrate=0.088;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=7.913;GDI_full_10282015=.;dpsi_max_tissue=0.0993;dpsi_zscore=0.481;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.254e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.184e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-879.745,0,-948.064:939:467:462:13754:14422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29122618 . G A 8501.33 . AB=0.494067;ABP=3.29374;AC=8;AF=0.5;AN=16;AO=458;CIGAR=1X;DP=8453;DPB=927;DPRA=0;EPP=9.1549;EPPR=26.6552;GTI=0;LEN=1;MEANALT=3;MQM=36.214;MQMR=37.7844;NS=1;NUMALT=1;ODDS=1784.25;PAIRED=0.917031;PAIREDR=0.917778;PAO=0;PQA=0;PQR=0;PRO=0;QA=13000;QR=13665;RO=450;RPL=295;RPP=85.6211;RPPR=9.26414;RPR=163;RUN=1;SAF=192;SAP=28.9731;SAR=266;SF=0;SRF=183;SRP=37.059;SRR=267;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.G2137A:p.E713K;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0584;esp6500siv2_ea=0.0777;esp6500siv2_all=0.0584;esp6500siv2_ea=0.0777;1000g2015aug_all=0.0259585;avsnp147=rs79241126;Kaviar_AF=0.0534728;Kaviar_AC=8267;Kaviar_AN=154602;ExAC_ALL=0.0519;ExAC_AFR=0.0125;ExAC_AMR=0.0264;ExAC_EAS=0.0001;ExAC_FIN=0.0953;ExAC_NFE=0.0739;ExAC_OTH=0.0556;ExAC_SAS=0.0135;CLNALLELEID=53462;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.109;SIFT_pred=T;Polyphen2_HDIV_score=0.913;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.129;Polyphen2_HVAR_pred=B;LRT_score=0.050;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.21;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_pred=N;VEST3_score=0.117;CADD_raw=1.194;CADD_phred=11.71;DANN_score=0.979;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.097;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=3.21;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.236;phastCons20way_mammalian=0.146;SiPhy_29way_logOdds=7.777;GDI_full_10282015=.;dpsi_max_tissue=-0.0909;dpsi_zscore=-0.421;hgmdCODING=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#16774985;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM068260#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=0.0531;gnomAD_exome_AFR=0.0116;gnomAD_exome_AMR=0.0312;gnomAD_exome_ASJ=0.0587;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0991;gnomAD_exome_NFE=0.0748;gnomAD_exome_OTH=0.0564;gnomAD_exome_SAS=0.0130;gnomAD_genome_ALL=0.0599;gnomAD_genome_AFR=0.0139;gnomAD_genome_AMR=0.0467;gnomAD_genome_ASJ=0.0567;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1013;gnomAD_genome_NFE=0.0842;gnomAD_genome_OTH=0.0603;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-794.346,0,-856.709:927:450:458:13000:13665 . . . . . . 0/1:-1193.92,0,-1503.89:1473:757:672:19492:23353 . . . . . . . . . . . . . . . . . . 0/1:-969.208,0,-1033.06:1102:540:530:15576:16359 . . . . . . . 0/1:-876.257,0,-1116.93:1115:573:506:14702:17137 . . . . . . . . . . . . . . 0/1:-425.419,0,-606.572:606:326:262:7527:9715 . . . 0/1:-1079.61,0,-1258.4:1312:661:613:17653:20138 . 0/1:-564.424,0,-661.166:716:359:339:9477:10722 . . . . . . . . . . . 0/1:-1045.26,0,-1103.01:1202:591:580:16925:17921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29122750 . A G 4653.21 . AB=0.490334;ABP=3.47207;AC=1;AF=0.5;AN=2;AO=279;CIGAR=1X;DP=569;DPB=569;DPRA=0;EPP=12.5445;EPPR=82.9785;GTI=0;LEN=1;MEANALT=3;MQM=32.9677;MQMR=34.3177;NS=1;NUMALT=1;ODDS=1071.44;PAIRED=0.820789;PAIREDR=0.815884;PAO=0;PQA=0;PQR=0;PRO=0;QA=8541;QR=8722;RO=277;RPL=155;RPP=10.4898;RPPR=26.724;RPR=124;RUN=1;SAF=118;SAP=17.4012;SAR=161;SF=0;SRF=121;SRP=12.6134;SRR=156;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.A2269G:p.M757V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.387;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.727;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.32;FATHMM_pred=T;PROVEAN_score=-0.82;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-1.248;CADD_phred=0.005;DANN_score=0.627;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.079;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-11.9;phyloP7way_vertebrate=0.073;phyloP20way_mammalian=-0.196;phastCons7way_vertebrate=0.034;phastCons20way_mammalian=0.632;SiPhy_29way_logOdds=6.373;GDI_full_10282015=.;dpsi_max_tissue=0.1212;dpsi_zscore=0.545;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-475.896,0,-500.121:569:277:279:8541:8722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29122799 . G A 3557.90 . AB=0.487179;ABP=3.73412;AC=44;AF=0.5;AN=82;AO=247;CIGAR=1X;DP=15804;DPB=507;DPRA=0;EPP=49.8596;EPPR=60.4945;GTI=0;LEN=1;MEANALT=3;MQM=33.587;MQMR=34.4291;NS=1;NUMALT=1;ODDS=897.244;PAIRED=0.740891;PAIREDR=0.728346;PAO=0;PQA=0;PQR=0;PRO=0;QA=7446;QR=8069;RO=254;RPL=174;RPP=92.6912;RPPR=175.394;RPR=73;RUN=1;SAF=150;SAP=27.7053;SAR=97;SF=0,1;SRF=138;SRP=7.14807;SRR=116;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.G2318A:p.R773K;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1973;esp6500siv2_ea=0.2540;esp6500siv2_all=0.1973;esp6500siv2_ea=0.2540;1000g2015aug_all=0.240016;avsnp147=rs2278792;Kaviar_AF=0.256601;Kaviar_AC=39671;Kaviar_AN=154602;ExAC_ALL=0.2676;ExAC_AFR=0.0742;ExAC_AMR=0.2923;ExAC_EAS=0.4748;ExAC_FIN=0.3425;ExAC_NFE=0.2565;ExAC_OTH=0.2674;ExAC_SAS=0.2706;CLNALLELEID=53467;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.383;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.270;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.35;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-0.35;PROVEAN_pred=N;VEST3_score=0.024;CADD_raw=2.152;CADD_phred=17.19;DANN_score=0.940;fathmm-MKL_coding_score=0.805;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.946;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.2;phyloP7way_vertebrate=-0.230;phyloP20way_mammalian=0.133;phastCons7way_vertebrate=0.757;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=10.588;GDI_full_10282015=.;dpsi_max_tissue=-0.0711;dpsi_zscore=-0.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2656;gnomAD_exome_AFR=0.0710;gnomAD_exome_AMR=0.2830;gnomAD_exome_ASJ=0.1685;gnomAD_exome_EAS=0.4665;gnomAD_exome_FIN=0.3377;gnomAD_exome_NFE=0.2551;gnomAD_exome_OTH=0.2517;gnomAD_exome_SAS=0.2464;gnomAD_genome_ALL=0.2286;gnomAD_genome_AFR=0.0777;gnomAD_genome_AMR=0.3280;gnomAD_genome_ASJ=0.1779;gnomAD_genome_EAS=0.4417;gnomAD_genome_FIN=0.3424;gnomAD_genome_NFE=0.2602;gnomAD_genome_OTH=0.2553;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-413.433,0,-469.59:507:254:247:7446:8069 . 0/1:-473.546,0,-353.223:457:197:250:7703:6340 0/1:-332.903,0,-351.248:379:187:187:5659:6178 . . 0/1:-343.251,0,-431.23:439:229:201:6228:7186 . . 0/1:-284.721,0,-316.73:331:171:159:4890:5489 1/1:-1353.45,-149.585,0:602:11:582:18061:361 . . . . 0/1:-214.132,0,-288.403:281:148:128:3842:4773 0/1:-369.053,0,-586.85:546:297:234:6960:9640 . 1/1:-1105.41,-137.386,0:501:5:476:14337:110 . 0/1:-231.728,0,-316.711:327:171:151:4294:5464 . . 0/1:-200.635,0,-261.555:249:128:119:3615:4252 0/1:-225.831,0,-285.825:290:156:132:4048:4876 . . . . 0/1:-383.838,0,-501.216:482:254:222:6952:8102 . 0/1:-356.268,0,-439.792:436:227:201:6131:7175 1/1:-1269.2,-150.33,0:537:3:527:16247:104 . 0/1:-241.531,0,-259.389:297:149:144:4306:4587 . 0/1:-343.289,0,-443.234:425:227:192:6029:7213 0/1:-408.575,0,-417.424:475:223:246:7305:7032 0/1:-354.603,0,-372.548:430:206:217:6588:6428 . . 0/1:-301.977,0,-449.961:427:230:186:5563:7587 . . 0/1:-508.964,0,-446.707:526:237:279:8636:7858 . . . . . . . 0/1:-164.233,0,-213.019:214:110:103:3051:3496 . . 0/1:-215.512,0,-216.469:238:115:118:3641:3759 0/1:-432.782,0,-558.729:572:303:262:7840:9422 . 0/1:-215.093,0,-287.207:284:155:126:3880:4893 . . 0/1:-154.842,0,-158.89:180:88:92:2744:2750 . . . . 0/1:-527.966,0,-594.164:604:304:292:8867:9578 . . . 0/1:-350.29,0,-390.377:446:223:218:6632:6853 . . . 0/1:-242.69,0,-304.954:299:154:141:4311:4914 . . 0/1:-389.275,0,-402.618:451:221:225:6811:7086 . . 0/1:-353.574,0,-421.063:463:232:220:6551:7237 0/1:-296.032,0,-399.36:377:195:176:5361:6434 0/1:-361.543,0,-504.472:478:252:217:6414:8151 . . . . 0/1:-506.82,0,-496.398:537:264:266:8371:8447 . . . . . 0/1:-285.981,0,-330.556:295:147:143:4472:4934:147,143 0/1:-96.2504,0,-149.176:119:67:52:1549:2208:67,52 0/1:-164.624,0,-301.824:217:128:89:2807:4326:128,89 . . 0/1:-293.79,0,-283.953:276:132:138:4488:4356:132,138 . . . . 0/1:-277.804,0,-256.824:261:128:130:4262:4161:128,130 . . 0/1:-271.515,0,-375.316:301:168:131:4253:5565:168,131 . . . 0/1:-199.075,0,-326.922:248:144:102:3274:4714:144,102 chr18 29125854 . A G 5315.61 . AB=0.465116;ABP=8.00974;AC=37;AF=0.5;AN=72;AO=220;CIGAR=1X;DP=23834;DPB=473;DPRA=0;EPP=126.824;EPPR=110.333;GTI=0;LEN=1;MEANALT=3;MQM=38.2091;MQMR=40.2076;NS=1;NUMALT=1;ODDS=739.971;PAIRED=0.986364;PAIREDR=0.987288;PAO=0;PQA=0;PQR=0;PRO=0;QA=5694;QR=7289;RO=236;RPL=65;RPP=82.96;RPPR=74.264;RPR=155;RUN=1;SAF=97;SAP=9.68264;SAR=123;SF=0,1;SRF=104;SRP=10.224;SRR=132;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.A2505G:p.T835T;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1076;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1076;1000g2015aug_all=0.197484;avsnp147=rs1042769;Kaviar_AF=0.12745;Kaviar_AC=19704;Kaviar_AN=154602;ExAC_ALL=0.1284;ExAC_AFR=0.3545;ExAC_AMR=0.1220;ExAC_EAS=0.1942;ExAC_FIN=0.0714;ExAC_NFE=0.1076;ExAC_OTH=0.0978;ExAC_SAS=0.0735;CLNALLELEID=53469;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1248;gnomAD_exome_AFR=0.3544;gnomAD_exome_AMR=0.1267;gnomAD_exome_ASJ=0.1347;gnomAD_exome_EAS=0.1961;gnomAD_exome_FIN=0.0724;gnomAD_exome_NFE=0.1063;gnomAD_exome_OTH=0.1108;gnomAD_exome_SAS=0.0727;gnomAD_genome_ALL=0.1768;gnomAD_genome_AFR=0.3479;gnomAD_genome_AMR=0.1199;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.2045;gnomAD_genome_FIN=0.0647;gnomAD_genome_NFE=0.1080;gnomAD_genome_OTH=0.1245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-350.5,0,-495.543:473:236:220:5694:7289 . 0/1:-622.919,0,-868.478:821:419:364:9952:12893 0/1:-542.434,0,-596.309:623:298:301:8426:8985 0/1:-436.796,0,-738.704:657:372:264:7223:10826 . . 0/1:-575.57,0,-701.169:721:354:346:9291:10691 . . . 0/1:-422.742,0,-674.3:614:333:264:6955:9949 . . . 0/1:-521.963,0,-798.722:729:394:313:8521:11748 . . . . . 0/1:-605.403,0,-884.668:824:437:364:9799:13250 . . 0/1:-599.17,0,-670.391:704:336:348:9436:10196 . 0/1:-472.81,0,-462.695:523:238:262:7197:7089 . . . 0/1:-503.957,0,-594.647:601:293:288:7844:8990 . . . . 0/1:-521.054,0,-680.8:697:349:318:8451:10352 0/1:-330.58,0,-354.367:375:174:186:5018:5395 . . 0/1:-519.094,0,-733.658:692:357:312:8330:10922 . 0/1:-805.178,0,-947.5:961:463:465:12511:14222 0/1:-580.519,0,-693.537:715:348:340:9174:10679 . . 0/1:-548.349,0,-698.956:663:343:305:8665:10407 . 0/1:-542.668,0,-684.572:676:330:322:8555:10259 . . 0/1:-521.846,0,-761.453:695:357:306:8402:11124 0/1:-430.36,0,-443.409:534:247:264:6836:7103 0/1:-438.481,0,-565.676:544:277:252:6992:8366 . 0/1:-319.938,0,-423.059:431:206:205:5325:6450 0/1:-355.372,0,-527.557:491:255:217:5846:7891 0/1:-531.119,0,-672.649:677:335:318:8455:10146 . . . . . . . . 0/1:-347.699,0,-603.866:531:291:216:5807:8959 . 0/1:-551.033,0,-544.732:625:287:310:8525:8446 . . . . . . . . . . . . 0/1:-519.168,0,-706.814:714:361:319:8395:10811 . . 0/1:-543.779,0,-641.629:681:330:318:8679:9862 0/1:-585.156,0,-887.489:850:446:372:9609:13160 . . . . . . 1/1:-1380.7,-136.584,0:657:20:605:16529:617 . 0/1:-624.138,0,-691.125:636:315:310:9312:10067:315,310 . . . . . 0/1:-812.255,0,-689.609:728:327:387:11752:10424:327,387 0/1:-701.923,0,-880.268:779:406:361:10742:12836:406,361 0/1:-679.437,0,-734.671:687:342:331:10216:10840:342,331 . . . . 0/1:-695.468,0,-861.566:761:398:349:10589:12477:398,349 0/1:-760.705,0,-778.283:744:364:371:11356:11423:364,371 . . . . . chr18 29126108 . T G 5322.76 . AB=0.513314;ABP=4.05106;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=676;DPB=676;DPRA=0;EPP=26.2957;EPPR=21.8297;GTI=0;LEN=1;MEANALT=3;MQM=36.0461;MQMR=36.2853;NS=1;NUMALT=1;ODDS=1167.04;PAIRED=0.925072;PAIREDR=0.971154;PAO=0;PQA=0;PQR=0;PRO=0;QA=9229;QR=8925;RO=312;RPL=105;RPP=120.464;RPPR=54.4853;RPR=242;RUN=1;SAF=170;SAP=3.31693;SAR=177;SF=0;SRF=151;SRP=3.70628;SRR=161;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T2759G:p.V920G;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0050;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0050;1000g2015aug_all=0.00319489;avsnp147=rs142841727;Kaviar_AF=0.0034023;Kaviar_AC=526;Kaviar_AN=154602;ExAC_ALL=0.0032;ExAC_AFR=0.0015;ExAC_AMR=0.0041;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0047;ExAC_OTH=0.0056;ExAC_SAS=0.0003;CLNALLELEID=53474;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_pred=D;Polyphen2_HDIV_score=0.666;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.154;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-1.13;FATHMM_pred=T;PROVEAN_score=-1.46;PROVEAN_pred=N;VEST3_score=0.819;CADD_raw=3.890;CADD_phred=23.5;DANN_score=0.896;fathmm-MKL_coding_score=0.166;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.901;MetaSVM_pred=T;MetaLR_score=0.178;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.5;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.084;phastCons7way_vertebrate=0.469;phastCons20way_mammalian=0.588;SiPhy_29way_logOdds=6.805;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#17105751;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM070920#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0130;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0047;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0033;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-554.691,0,-521.94:676:312:347:9229:8925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29126485 . G A 21949.90 . AB=0.44416;ABP=76.9763;AC=1;AF=0.5;AN=2;AO=1213;CIGAR=1X;DP=2731;DPB=2731;DPRA=0;EPP=75.3348;EPPR=100.511;GTI=0;LEN=1;MEANALT=3;MQM=38.1904;MQMR=39.1067;NS=1;NUMALT=1;ODDS=5054.15;PAIRED=0.963726;PAIREDR=0.946975;PAO=0;PQA=0;PQR=0;PRO=0;QA=37092;QR=46740;RO=1471;RPL=356;RPP=452.344;RPPR=628.62;RPR=857;RUN=1;SAF=771;SAP=196.78;SAR=442;SF=0;SRF=938;SRP=245.142;SRR=533;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.G3136A:p.V1046M;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs185473038;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.281e-06;ExAC_AFR=0;ExAC_AMR=8.64e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.051;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.975;MutationAssessor_pred=M;FATHMM_score=-1.5;FATHMM_pred=D;PROVEAN_score=-1.21;PROVEAN_pred=N;VEST3_score=0.6;CADD_raw=6.839;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=0.203;MetaSVM_pred=D;MetaLR_score=0.650;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.35;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.781;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.614;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-2282.25,0,-3134.6:2731:1471:1213:37092:46740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29126592 . C T 6908.20 . AB=0.447205;ABP=22.4996;AC=1;AF=0.5;AN=2;AO=360;CIGAR=1X;DP=805;DPB=805;DPRA=0;EPP=198.443;EPPR=213.763;GTI=0;LEN=1;MEANALT=3;MQM=40.0472;MQMR=40.1778;NS=1;NUMALT=1;ODDS=1590.67;PAIRED=0.969444;PAIREDR=0.965358;PAO=0;PQA=0;PQR=0;PRO=0;QA=11216;QR=13172;RO=433;RPL=141;RPP=39.7082;RPPR=20.4673;RPR=219;RUN=1;SAF=147;SAP=29.2851;SAR=213;SF=1;SRF=165;SRP=56.2139;SRR=268;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.C3243T:p.V1081V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0110;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0110;esp6500siv2_ea=0.0040;1000g2015aug_all=0.0103834;avsnp147=rs11542379;Kaviar_AF=0.0057826;Kaviar_AC=894;Kaviar_AN=154602;ExAC_ALL=0.0058;ExAC_AFR=0.0250;ExAC_AMR=0.0091;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0051;ExAC_OTH=0.0089;ExAC_SAS=0.0002;CLNALLELEID=53479;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0058;gnomAD_exome_AFR=0.0245;gnomAD_exome_AMR=0.0095;gnomAD_exome_ASJ=0.0103;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0092;gnomAD_genome_AFR=0.0228;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-726.671,0,-896.938:805:433:360:11216:13172:433,360 . . . . . . . . . . . . . . . . chr18 29126615 . G T 9470.21 . AB=0.469828;ABP=12.1829;AC=1;AF=0.5;AN=2;AO=545;CIGAR=1X;DP=1160;DPB=1160;DPRA=0;EPP=3.33303;EPPR=3.30007;GTI=0;LEN=1;MEANALT=3;MQM=36.9725;MQMR=38.2916;NS=1;NUMALT=1;ODDS=2180.6;PAIRED=0.963303;PAIREDR=0.965404;PAO=0;PQA=0;PQR=0;PRO=0;QA=16118;QR=18698;RO=607;RPL=274;RPP=3.04616;RPPR=3.30007;RPR=271;RUN=1;SAF=188;SAP=116.807;SAR=357;SF=0;SRF=206;SRP=139.04;SRR=401;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.G3266T:p.G1089V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200264407;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.487e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189993;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.063;SIFT_pred=T;Polyphen2_HDIV_score=0.875;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.307;Polyphen2_HVAR_pred=B;LRT_score=0.696;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=0.28;FATHMM_pred=T;PROVEAN_score=-0.58;PROVEAN_pred=N;VEST3_score=0.156;CADD_raw=2.927;CADD_phred=22.0;DANN_score=0.972;fathmm-MKL_coding_score=0.130;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.028;MetaSVM_pred=T;MetaLR_score=0.107;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=0.117;phyloP7way_vertebrate=-0.310;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.235;phastCons20way_mammalian=0.061;SiPhy_29way_logOdds=5.412;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.627e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.59e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-967.357,0,-1214.75:1160:607:545:16118:18698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29126670 . T C 13473.31 . AB=0.457103;ABP=14.3746;AC=87;AF=0.5;AN=140;AO=325;CIGAR=1X;DP=77600;DPB=711;DPRA=0;EPP=29.529;EPPR=41.2061;GTI=0;LEN=1;MEANALT=3;MQM=38.7446;MQMR=38.4665;NS=1;NUMALT=1;ODDS=1426.81;PAIRED=0.969231;PAIREDR=0.957105;PAO=0;PQA=0;PQR=0;PRO=0;QA=10348;QR=11974;RO=373;RPL=214;RPP=73.8938;RPPR=173.241;RPR=111;RUN=1;SAF=82;SAP=176.2;SAR=243;SF=0,1;SRF=101;SRP=173.241;SRR=272;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T3321C:p.V1107V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.4731;esp6500siv2_ea=0.3777;esp6500siv2_all=0.4731;esp6500siv2_ea=0.3777;1000g2015aug_all=0.542931;avsnp147=rs1791235;Kaviar_AF=0.419658;Kaviar_AC=64880;Kaviar_AN=154602;ExAC_ALL=0.4233;ExAC_AFR=0.6952;ExAC_AMR=0.4352;ExAC_EAS=0.7075;ExAC_FIN=0.4153;ExAC_NFE=0.3705;ExAC_OTH=0.3867;ExAC_SAS=0.3241;CLNALLELEID=53482;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4220;gnomAD_exome_AFR=0.6961;gnomAD_exome_AMR=0.4447;gnomAD_exome_ASJ=0.3193;gnomAD_exome_EAS=0.7052;gnomAD_exome_FIN=0.4139;gnomAD_exome_NFE=0.3733;gnomAD_exome_OTH=0.3827;gnomAD_exome_SAS=0.3246;gnomAD_genome_ALL=0.4896;gnomAD_genome_AFR=0.6868;gnomAD_genome_AMR=0.4928;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.6954;gnomAD_genome_FIN=0.4066;gnomAD_genome_NFE=0.3807;gnomAD_genome_OTH=0.4051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-655.852,0,-788.539:711:373:325:10348:11974 . 1/1:-3469.67,-376.484,0:1452:25:1390:42468:623 0/1:-987.08,0,-1164.19:1081:548:505:15582:17769 1/1:-3160.76,-310.607,0:1316:32:1249:38668:886 0/1:-975.863,0,-1058.47:1047:517:497:15468:16532 . 0/1:-892.654,0,-1145.97:1049:540:479:14567:17514 0/1:-1020.71,0,-1210.57:1118:572:525:16118:18452 . . 1/1:-1992.38,-210.557,0:822:14:784:24435:394 1/1:-3828.34,-376.676,0:1548:37:1481:46517:1018 . . 0/1:-1009.15,0,-1314.12:1163:612:526:16225:19840 . 0/1:-798.835,0,-946.33:876:446:414:12650:14512 0/1:-1316.74,0,-1499.42:1395:703:666:20665:22839 0/1:-505.383,0,-714.334:632:343:270:8478:10914 1/1:-3311.97,-366.449,0:1328:18:1283:39526:398 0/1:-1187.4,0,-1518.89:1379:722:621:19063:22920 0/1:-724.304,0,-1070.04:952:517:414:12434:16236 . 0/1:-1025.32,0,-1366.73:1197:640:530:16364:20651 0/1:-698.685,0,-1047.66:932:506:402:11892:16155 1/1:-1626.94,-179.418,0:664:8:640:19770:244 . . 0/1:-1164.48,0,-1551.54:1358:729:599:18605:23620 0/1:-977.985,0,-1036:1019:491:503:15480:15952 0/1:-993.429,0,-1407.09:1171:652:503:16017:20941 . 0/1:-1013.74,0,-1313.4:1173:612:539:16732:19522 1/1:-2548.22,-269.519,0:1024:15:984:30558:386 0/1:-917.083,0,-1286.16:1164:630:503:15322:20123 1/1:-1816.6,-194.626,0:766:15:729:22424:418 . 0/1:-1005.61,0,-1183.26:1081:542:516:16095:17897 1/1:-2917.55,-322.841,0:1176:11:1138:35366:295 0/1:-946.854,0,-1235.55:1117:600:497:15337:18869 1/1:-3275.11,-325.35,0:1356:32:1295:40298:927 0/1:-1112.47,0,-1232.32:1204:589:580:17569:19185 0/1:-1041.12,0,-1376.78:1232:648:545:16978:20887 . 0/1:-808.127,0,-1024.18:928:490:415:12878:15848 0/1:-1397.21,0,-1504.61:1448:715:705:21771:23093 0/1:-1206.23,0,-1341.68:1252:634:597:18858:20509 . . 0/1:-1284.89,0,-1505.99:1404:719:667:20235:23272 0/1:-675.39,0,-874.283:816:434:358:11139:13461 0/1:-878.438,0,-963.094:906:452:439:13660:14615 . 1/1:-1513.88,-157.177,0:640:13:610:19142:390 0/1:-714.379,0,-926.368:854:446:385:11951:14174 0/1:-1057.82,0,-1315.86:1195:621:555:17273:19987 0/1:-619.133,0,-825.843:784:411:344:10559:12921 0/1:-1354.09,0,-1609.36:1498:771:701:21587:24606 . 0/1:-638.326,0,-857.776:782:416:346:10621:13150 . . 0/1:-469.277,0,-677.625:605:335:259:8074:10667 . 0/1:-936.942,0,-1286.14:1126:601:501:15368:19309 . 0/1:-1176.83,0,-1348.66:1277:646:605:18571:20816 1/1:-3804.67,-411.873,0:1518:16:1468:45819:436 . . . 0/1:-1322.61,0,-1686.58:1518:784:695:21536:25387 . . . 0/1:-521.946,0,-907.344:710:412:276:8866:13454 . . 0/1:-1332.3,0,-1489.47:1430:725:672:21006:22667 0/1:-917.454,0,-1170.63:1088:561:495:14777:18027 . 0/1:-968.913,0,-1145.71:1056:538:491:15289:17267 1/1:-1870.26,-180.859,0:774:19:736:22854:575 1/1:-3008.02,-309.875,0:1259:23:1207:36963:750 . . . 0/1:-1061.52,0,-1106.43:1081:525:538:16763:17109 0/1:-1164.89,0,-1704.03:1405:781:603:18904:25760 . 1/1:-3147.35,-332.529,0:1308:23:1253:38630:632 . 0/1:-1297.61,0,-1657.93:1340:725:605:19566:23902:725,605 . 0/1:-1179.42,0,-1446.47:1211:648:551:17939:20931:648,551 1/1:-1999.94,-191.009,0:760:15:735:23638:411:15,735 0/1:-1079.9,0,-1392.16:1149:626:515:16553:20268:626,515 . 0/1:-1152.24,0,-1313.43:1133:589:538:17300:19117:589,538 1/1:-3009.01,-286.488,0:1131:18:1104:35583:595:18,1104 0/1:-1118.91,0,-1372.52:1145:606:532:16904:19821:606,532 . . . 0/1:-1107.3,0,-1225.42:1066:549:510:16522:18130:549,510 0/1:-1110.05,0,-1325.86:1107:587:510:16621:19226:587,510 0/1:-1097.4,0,-1438.59:1180:646:521:16703:20818:646,521 0/1:-1014.99,0,-1326.18:1076:581:487:15571:19055:581,487 . . . 0/1:-1102.35,0,-1340.04:1137:596:525:16861:19412:596,525 chr18 29172865 . G A 1992.26 . AB=0.438746;ABP=14.4492;AC=9;AF=0.5;AN=18;AO=154;CIGAR=1X;DP=2462;DPB=351;DPRA=0;EPP=25.5711;EPPR=15.7926;GTI=0;LEN=1;MEANALT=3;MQM=38.1299;MQMR=38.3459;NS=1;NUMALT=1;ODDS=557.809;PAIRED=0.987013;PAIREDR=0.989189;PAO=0;PQA=0;PQR=0;PRO=0;QA=4633;QR=5591;RO=185;RPL=30;RPP=127.602;RPPR=137.395;RPR=124;RUN=1;SAF=127;SAP=144.015;SAR=27;SF=0,1;SRF=148;SRP=147.63;SRR=37;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTR:NM_000371:exon2:c.G76A:p.G26S;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0574;esp6500siv2_ea=0.0780;esp6500siv2_all=0.0574;esp6500siv2_ea=0.0780;1000g2015aug_all=0.0233626;avsnp147=rs1800458;Kaviar_AF=0.0509825;Kaviar_AC=7882;Kaviar_AN=154602;ExAC_ALL=0.0495;ExAC_AFR=0.0139;ExAC_AMR=0.0225;ExAC_EAS=0.0002;ExAC_FIN=0.0939;ExAC_NFE=0.0709;ExAC_OTH=0.0396;ExAC_SAS=0.0130;CLNALLELEID=28491;CLNDN=TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype;CLNDISDB=.|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.475;MutationAssessor_pred=N;FATHMM_score=-3.64;FATHMM_pred=D;PROVEAN_score=0.11;PROVEAN_pred=N;VEST3_score=0.1;CADD_raw=-0.088;CADD_phred=1.822;DANN_score=0.328;fathmm-MKL_coding_score=0.253;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.841;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=3.5;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.096;phastCons7way_vertebrate=0.013;phastCons20way_mammalian=0.012;SiPhy_29way_logOdds=8.142;GDI_full_10282015=.;dpsi_max_tissue=-3.7815;dpsi_zscore=-2.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1611713#"Amyloidotic_polyneuropathy";gnomAD_exome_ALL=0.0507;gnomAD_exome_AFR=0.0127;gnomAD_exome_AMR=0.0239;gnomAD_exome_ASJ=0.0555;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0964;gnomAD_exome_NFE=0.0728;gnomAD_exome_OTH=0.0490;gnomAD_exome_SAS=0.0129;gnomAD_genome_ALL=0.0580;gnomAD_genome_AFR=0.0147;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0533;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1025;gnomAD_genome_NFE=0.0812;gnomAD_genome_OTH=0.0489;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-280.546,0,-362.266:351:185:154:4633:5591 0/1:-211.944,0,-302.134:279:145:125:3618:4568 . . . . . 0/1:-172.39,0,-252.591:222:122:94:2869:3726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-311.305,0,-276.241:315:141:170:4977:4540 0/1:-229.296,0,-297.793:271:144:122:3774:4499 0/1:-304.272,0,-392.191:377:199:171:5063:5973 . . . . . . . . . . . . 0/1:-156.979,0,-144.608:166:82:83:2502:2402 . . . . . 0/1:-171.227,0,-187.456:207:97:103:2890:2952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-212.769,0,-343.354:274:160:110:3420:4918:160,110 . . . . . . . . . . . chr18 29178513 . G C 6189.29 . AB=0.481818;ABP=4.9054;AC=9;AF=0.5;AN=18;AO=318;CIGAR=1X;DP=7018;DPB=660;DPRA=0;EPP=7.62639;EPPR=5.14229;GTI=0;LEN=1;MEANALT=3;MQM=34.239;MQMR=34.3485;NS=1;NUMALT=1;ODDS=1164.92;PAIRED=0.880503;PAIREDR=0.881818;PAO=0;PQA=0;PQR=0;PRO=0;QA=8939;QR=9854;RO=330;RPL=128;RPP=29.2592;RPPR=10.617;RPR=190;RUN=1;SAF=122;SAP=40.4033;SAR=196;SF=0,1;SRF=146;SRP=12.5121;SRR=184;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0571;esp6500siv2_ea=0.0383;esp6500siv2_all=0.0571;esp6500siv2_ea=0.0383;1000g2015aug_all=0.0660942;avsnp147=rs36204272;Kaviar_AF=0.0510472;Kaviar_AC=7892;Kaviar_AN=154602;ExAC_ALL=0.0528;ExAC_AFR=0.0968;ExAC_AMR=0.1643;ExAC_EAS=0.0720;ExAC_FIN=0.0206;ExAC_NFE=0.0353;ExAC_OTH=0.0382;ExAC_SAS=0.0216;CLNALLELEID=45553;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0566;gnomAD_exome_AFR=0.0980;gnomAD_exome_AMR=0.1553;gnomAD_exome_ASJ=0.0557;gnomAD_exome_EAS=0.0741;gnomAD_exome_FIN=0.0184;gnomAD_exome_NFE=0.0363;gnomAD_exome_OTH=0.05;gnomAD_exome_SAS=0.0211;gnomAD_genome_ALL=0.0590;gnomAD_genome_AFR=0.0958;gnomAD_genome_AMR=0.1122;gnomAD_genome_ASJ=0.02;gnomAD_genome_EAS=0.0736;gnomAD_genome_FIN=0.0200;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0407;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-519.898,0,-568.893:660:330:318:8939:9854 . . . . . . 0/1:-655.48,0,-753.173:805:397:381:10624:11912 . . . . . . . . . . . . . . . . . . . 0/1:-820.32,0,-980.429:992:503:469:13542:15475 . . . . . . . . . . . . . . . . 0/1:-534.837,0,-661.209:724:363:342:9199:10769 . . . . . . . . 0/1:-374.63,0,-575.936:532:289:230:6539:8724 . 0/1:-668.322,0,-762.558:824:416:396:11060:12484 . . . . . . . . . . . . . . . . . 0/1:-1051.74,0,-1189.93:1062:542:504:15980:17477:542,504 0/1:-523.235,0,-539.601:505:249:249:7761:7967:249,249 . . . 0/1:-842.198,0,-1022.17:914:469:437:13109:14943:469,437 . . . . . . . . . . . . chr18 29178564 . C T 6881.03 . AB=0.421348;ABP=60.3957;AC=1;AF=0.5;AN=2;AO=450;CIGAR=1X;DP=1068;DPB=1068;DPRA=0;EPP=126.543;EPPR=26.0191;GTI=0;LEN=1;MEANALT=3;MQM=35.04;MQMR=36.9966;NS=1;NUMALT=1;ODDS=1584.41;PAIRED=0.911111;PAIREDR=0.906621;PAO=0;PQA=0;PQR=0;PRO=0;QA=12909;QR=18056;RO=589;RPL=223;RPP=3.08751;RPPR=4.63614;RPR=227;RUN=1;SAF=200;SAP=15.074;SAR=250;SF=0;SRF=238;SRP=50.0859;SRR=351;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTR:NM_000371:exon4:c.C370T:p.R124C;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs745834030;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.121e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=4.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=402722;CLNDN=Amyloidogenic_transthyretin_amyloidosis|not_specified;CLNDISDB=MedGen:C2751492,OMIM:105210,SNOMED_CT:43532007,SNOMED_CT:442012008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.949;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.94;Polyphen2_HVAR_pred=D;LRT_score=0.021;LRT_pred=N;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=-3.89;FATHMM_pred=D;PROVEAN_score=-2.28;PROVEAN_pred=N;VEST3_score=0.638;CADD_raw=5.947;CADD_phred=27.6;DANN_score=0.999;fathmm-MKL_coding_score=0.871;fathmm-MKL_coding_pred=D;MetaSVM_score=0.459;MetaSVM_pred=D;MetaLR_score=0.865;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.18;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.946;phastCons20way_mammalian=0.085;SiPhy_29way_logOdds=11.051;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.281e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=4.49e-05;gnomAD_exome_NFE=3.583e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-713.842,0,-1167.61:1068:589:450:12909:18056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 29178610 . C T 4120.61 . AB=0.442857;ABP=18.8931;AC=1;AF=0.5;AN=2;AO=248;CIGAR=1X;DP=560;DPB=560;DPRA=0;EPP=4.27115;EPPR=8.00321;GTI=0;LEN=1;MEANALT=3;MQM=35.8911;MQMR=38.3367;NS=1;NUMALT=1;ODDS=948.806;PAIRED=0.971774;PAIREDR=0.965986;PAO=0;PQA=0;PQR=0;PRO=0;QA=7285;QR=8987;RO=294;RPL=85;RPP=56.2814;RPPR=37.163;RPR=163;RUN=1;SAF=121;SAP=3.32551;SAR=127;SF=0;SRF=149;SRP=3.12848;SRR=145;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTR:NM_000371:exon4:c.C416T:p.T139M;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0028;1000g2015aug_all=0.000998403;avsnp147=rs28933981;Kaviar_AF=0.00174;Kaviar_AC=269;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0.0004;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0025;ExAC_OTH=0;ExAC_SAS=6.057e-05;CLNALLELEID=28473;CLNDN=AMYLOIDOSIS,_HEREDITARY,_TRANSTHYRETIN-RELATED,_MODIFIER_OF|Amyloidogenic_transthyretin_amyloidosis|not_specified|Cardiovascular_phenotype;CLNDISDB=.|MedGen:C2751492,OMIM:105210,SNOMED_CT:43532007,SNOMED_CT:442012008|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign,_risk_factor;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=3.02;MutationAssessor_pred=M;FATHMM_score=-3.93;FATHMM_pred=D;PROVEAN_score=-2.0;PROVEAN_pred=N;VEST3_score=0.905;CADD_raw=6.978;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_pred=D;MetaSVM_score=0.895;MetaSVM_pred=D;MetaLR_score=0.918;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.08;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.725;phastCons20way_mammalian=0.713;SiPhy_29way_logOdds=20.267;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM910378#"Amyloidosis_modifier_of";gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-425.814,0,-592.263:560:294:248:7285:8987 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32335915 . A G 6690.11 . AB=0.468354;ABP=11.9436;AC=13;AF=0.5;AN=26;AO=481;CIGAR=1X;DP=10489;DPB=1027;DPRA=0;EPP=6.80699;EPPR=43.8598;GTI=0;LEN=1;MEANALT=3;MQM=40.0333;MQMR=39.9942;NS=1;NUMALT=1;ODDS=1961.28;PAIRED=0.975052;PAIREDR=0.965451;PAO=0;PQA=0;PQR=0;PRO=0;QA=14057;QR=16384;RO=521;RPL=90;RPP=412.028;RPPR=564.38;RPR=391;RUN=1;SAF=305;SAP=78.136;SAR=176;SF=0,1;SRF=349;SRP=133.586;SRR=172;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0853;esp6500siv2_ea=0.0780;esp6500siv2_all=0.0853;esp6500siv2_ea=0.0780;1000g2015aug_all=0.0479233;avsnp147=rs6650658;Kaviar_AF=0.0624701;Kaviar_AC=9658;Kaviar_AN=154602;ExAC_ALL=0.0644;ExAC_AFR=0.1057;ExAC_AMR=0.0348;ExAC_EAS=0.0005;ExAC_FIN=0.0719;ExAC_NFE=0.0835;ExAC_OTH=0.0674;ExAC_SAS=0.0121;CLNALLELEID=190152;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2985;dpsi_zscore=0.889;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0600;gnomAD_exome_AFR=0.1024;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0478;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0759;gnomAD_exome_NFE=0.0825;gnomAD_exome_OTH=0.0614;gnomAD_exome_SAS=0.0122;gnomAD_genome_ALL=0.0831;gnomAD_genome_AFR=0.1028;gnomAD_genome_AMR=0.0335;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0696;gnomAD_genome_NFE=0.0878;gnomAD_genome_OTH=0.0724;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-912.003,0,-1107.93:1027:521:481:14057:16384 . . 0/1:-776.768,0,-1097.09:937:501:414:12119:16012 . . . 0/1:-601.346,0,-889.76:745:414:325:9551:12829 . . . . . . . . . . . . . . . 0/1:-624.936,0,-887.393:752:400:334:9902:12813 . . . . . . . . . . . 0/1:-773.946,0,-938.534:868:445:402:11865:13963 . . . . . . . . . . . . . . . 0/1:-633.291,0,-775.454:704:366:321:9657:11457 . 0/1:-581.141,0,-828.362:733:393:324:9398:12186 . . 0/1:-635.47,0,-761.15:706:357:329:9780:11286 . . . . . . . . . . . . 0/1:-847.416,0,-979.495:932:473:433:13037:14696 . . . . 0/1:-891.329,0,-1165.67:1020:532:477:13880:17022 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-673.21,0,-669.103:636:307:318:9885:9890:307,318 . . . . . . 0/1:-788.036,0,-834.327:755:377:366:11576:12183:377,366 0/1:-560.226,0,-876.735:674:388:275:8777:12462:388,275 chr18 32391951 . T A 7187.88 . AB=0.484094;ABP=4.59911;AC=1;AF=0.5;AN=2;AO=350;CIGAR=1X;DP=723;DPB=723;DPRA=0;EPP=4.59858;EPPR=10.6577;GTI=0;LEN=1;MEANALT=3;MQM=41.16;MQMR=40.9755;NS=1;NUMALT=1;ODDS=1655.07;PAIRED=0.968571;PAIREDR=0.975543;PAO=0;PQA=0;PQR=0;PRO=0;QA=10929;QR=11339;RO=368;RPL=119;RPP=80.8359;RPPR=112.15;RPR=231;RUN=1;SAF=222;SAP=57.8307;SAR=128;SF=1;SRF=248;SRP=99.688;SRR=120;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001390:exon5:c.T477A:p.S159R,DTNA:NM_001391:exon5:c.T477A:p.S159R,DTNA:NM_001198941:exon6:c.T477A:p.S159R,DTNA:NM_032978:exon6:c.T477A:p.S159R,DTNA:NM_001128175:exon7:c.T477A:p.S159R,DTNA:NM_001198938:exon7:c.T477A:p.S159R,DTNA:NM_001198939:exon7:c.T477A:p.S159R,DTNA:NM_001198940:exon7:c.T477A:p.S159R,DTNA:NM_001198945:exon7:c.T477A:p.S159R,DTNA:NM_001392:exon7:c.T477A:p.S159R,DTNA:NM_032975:exon7:c.T477A:p.S159R,DTNA:NM_032979:exon7:c.T477A:p.S159R;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.071;SIFT_pred=T;Polyphen2_HDIV_score=0.404;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.302;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-0.64;FATHMM_pred=T;PROVEAN_score=-1.96;PROVEAN_pred=N;VEST3_score=0.81;CADD_raw=2.139;CADD_phred=17.11;DANN_score=0.993;fathmm-MKL_coding_score=0.730;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.827;MetaSVM_pred=T;MetaLR_score=0.225;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=1.36;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=0.141;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=6.462;GDI_full_10282015=.;dpsi_max_tissue=-0.1828;dpsi_zscore=-0.652;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-740.113,0,-770.469:723:368:350:10929:11339:368,350 . . chr18 32391984 . C G 5562.93 . AB=0.44883;ABP=18.5662;AC=1;AF=0.5;AN=2;AO=307;CIGAR=1X;DP=684;DPB=684;DPRA=0;EPP=27.6321;EPPR=7.98634;GTI=0;LEN=1;MEANALT=3;MQM=39.3779;MQMR=39.6839;NS=1;NUMALT=1;ODDS=1280.91;PAIRED=0.990228;PAIREDR=0.99455;PAO=0;PQA=0;PQR=0;PRO=0;QA=9042;QR=10897;RO=367;RPL=141;RPP=7.43105;RPPR=8.69636;RPR=166;RUN=1;SAF=189;SAP=38.6663;SAR=118;SF=0;SRF=210;SRP=19.6306;SRR=157;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001390:exon5:c.C510G:p.F170L,DTNA:NM_001391:exon5:c.C510G:p.F170L,DTNA:NM_001198941:exon6:c.C510G:p.F170L,DTNA:NM_032978:exon6:c.C510G:p.F170L,DTNA:NM_001128175:exon7:c.C510G:p.F170L,DTNA:NM_001198938:exon7:c.C510G:p.F170L,DTNA:NM_001198939:exon7:c.C510G:p.F170L,DTNA:NM_001198940:exon7:c.C510G:p.F170L,DTNA:NM_001198945:exon7:c.C510G:p.F170L,DTNA:NM_001392:exon7:c.C510G:p.F170L,DTNA:NM_032975:exon7:c.C510G:p.F170L,DTNA:NM_032979:exon7:c.C510G:p.F170L;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.48;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.825;MutationAssessor_pred=L;FATHMM_score=-0.31;FATHMM_pred=T;PROVEAN_score=-4.91;PROVEAN_pred=D;VEST3_score=0.865;CADD_raw=4.609;CADD_phred=24.4;DANN_score=0.998;fathmm-MKL_coding_score=0.911;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.544;MetaSVM_pred=T;MetaLR_score=0.304;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.93;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=9.616;GDI_full_10282015=.;dpsi_max_tissue=0.1661;dpsi_zscore=0.653;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-571.487,0,-726.802:684:367:307:9042:10897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32392092 . T C 8092.18 . AB=0.501276;ABP=3.02138;AC=1;AF=0.5;AN=2;AO=393;CIGAR=1X;DP=784;DPB=784;DPRA=0;EPP=3.14843;EPPR=3.69276;GTI=0;LEN=1;MEANALT=2;MQM=40.5496;MQMR=41.1455;NS=1;NUMALT=1;ODDS=1863.29;PAIRED=0.966921;PAIREDR=0.976623;PAO=0;PQA=0;PQR=0;PRO=0;QA=12198;QR=12489;RO=385;RPL=240;RPP=44.8319;RPPR=18.8536;RPR=153;RUN=1;SAF=178;SAP=10.5745;SAR=215;SF=1;SRF=168;SRP=16.5524;SRR=217;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs367772080;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=230910;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0672;dpsi_zscore=-0.337;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.932e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.457e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-821.941,0,-852.935:784:385:393:12198:12489:385,393 . . . . . chr18 32395859 . G T 2781.57 . AB=0.466472;ABP=6.35931;AC=1;AF=0.5;AN=2;AO=160;CIGAR=1X;DP=343;DPB=343;DPRA=0;EPP=5.67035;EPPR=11.8539;GTI=0;LEN=1;MEANALT=3;MQM=39.275;MQMR=39.9274;NS=1;NUMALT=1;ODDS=640.479;PAIRED=0.975;PAIREDR=0.994413;PAO=0;PQA=0;PQR=0;PRO=0;QA=4549;QR=5206;RO=179;RPL=78;RPP=3.22745;RPPR=25.4408;RPR=82;RUN=1;SAF=91;SAP=9.579;SAR=69;SF=0;SRF=102;SRP=10.5923;SRR=77;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00139776;avsnp147=rs397517447;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0009;ExAC_AMR=0.0033;ExAC_EAS=0.0002;ExAC_FIN=0.0011;ExAC_NFE=0.0013;ExAC_OTH=0.0044;ExAC_SAS=0.0001;CLNALLELEID=55592;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0463;dpsi_zscore=-0.248;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-286.294,0,-348.68:343:179:160:4549:5206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32400909 . ACA AA 8026.60 . AB=0.436782;ABP=45.2916;AC=20;AF=0.5;AN=40;AO=532;CIGAR=1M1D1M;DP=24457;DPB=1062.67;DPRA=0;EPP=9.54104;EPPR=3.54029;GTI=0;LEN=1;MEANALT=25;MQM=37.2256;MQMR=39.7322;NS=1;NUMALT=1;ODDS=1751.11;PAIRED=0.947368;PAIREDR=0.955932;PAO=25;PQA=483.5;PQR=645.5;PRO=30;QA=13527;QR=17629;RO=590;RPL=230;RPP=24.1699;RPPR=57.7903;RPR=302;RUN=1;SAF=304;SAP=26.5863;SAR=228;SF=0,1;SRF=351;SRP=49.178;SRR=239;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1147;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1147;1000g2015aug_all=0.114617;avsnp147=rs3216115;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;ExAC_ALL=0.1096;ExAC_AFR=0.2310;ExAC_AMR=0.0433;ExAC_EAS=0.0115;ExAC_FIN=0.1536;ExAC_NFE=0.1093;ExAC_OTH=0.1170;ExAC_SAS=0.1143;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1059;gnomAD_exome_AFR=0.2336;gnomAD_exome_AMR=0.0491;gnomAD_exome_ASJ=0.0732;gnomAD_exome_EAS=0.0136;gnomAD_exome_FIN=0.1520;gnomAD_exome_NFE=0.1120;gnomAD_exome_OTH=0.0928;gnomAD_exome_SAS=0.1132;gnomAD_genome_ALL=0.1527;gnomAD_genome_AFR=0.2355;gnomAD_genome_AMR=0.0644;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0093;gnomAD_genome_FIN=0.1505;gnomAD_genome_NFE=0.1290;gnomAD_genome_OTH=0.1199;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-774.288,0,-1163.92:1218:590:532:13527:17629 . . . . 0/1:-854.963,0,-960.265:1198:527:571:14627:15583 . . . . . 0/1:-527.304,0,-787.443:896:427:381:9601:12530 0/1:-591.637,0,-959.633:995:506:409:10803:15059 0/1:-1012.77,0,-1345.06:1461:686:657:17195:20681 . 0/1:-1524.72,0,-1996.75:2151:1028:958:25655:30969 . . . . . . . . 0/1:-718.121,0,-1098.48:1176:559:507:12794:16815 . . . . . . . . . . 0/1:-844.355,0,-1187.76:1255:615:535:14317:18246 . . 0/1:-787.871,0,-1289.66:1302:645:533:13930:19551 . 0/1:-844.828,0,-1068.28:1185:547:522:14062:16543 . . . 0/1:-833.412,0,-928.199:1128:503:525:14063:14953 . 0/1:-648.568,0,-801.24:937:429:427:11017:12942 . 0/1:-847.872,0,-1064.02:1213:555:571:14370:16510 . 0/1:-840.737,0,-1425.88:1390:691:577:15130:21132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-557.186,0,-891.401:938:456:389:10005:13433 0/1:-720.745,0,-1188.32:1253:619:521:13101:18533 . . . 0/1:-660.885,0,-809.325:976:438:459:11587:13066 0/1:-927.684,0,-1171.03:1318:609:601:15855:18323 . . . . . 0/1:-997.037,0,-1458.14:1370:690:605:16277:21491:690,605 . . . . . . . . . . . . . . . . 0/1:-763.337,0,-1175.9:1097:565:478:12770:17324:565,478 chr18 32407531 . T G 5682.86 . AB=0.426719;ABP=38.9734;AC=1;AF=0.5;AN=2;AO=329;CIGAR=1X;DP=771;DPB=771;DPRA=0;EPP=5.921;EPPR=35.7621;GTI=0;LEN=1;MEANALT=3;MQM=38.4559;MQMR=38.8161;NS=1;NUMALT=1;ODDS=1308.53;PAIRED=0.975684;PAIREDR=0.97931;PAO=0;PQA=0;PQR=0;PRO=0;QA=9617;QR=13437;RO=435;RPL=196;RPP=29.2066;RPPR=19.229;RPR=133;RUN=1;SAF=135;SAP=25.9857;SAR=194;SF=0;SRF=181;SRP=29.6121;SRR=254;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778080554;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.944e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.993e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7973;dpsi_zscore=1.385;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.687e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.373e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-584.317,0,-901.041:771:435:329:9617:13437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32408968 . C A 5654.95 . AB=0.467033;ABP=9.88265;AC=1;AF=0.5;AN=2;AO=340;CIGAR=1X;DP=728;DPB=728;DPRA=0;EPP=48.0747;EPPR=42.6901;GTI=0;LEN=1;MEANALT=3;MQM=38.9029;MQMR=39.3077;NS=1;NUMALT=1;ODDS=1302.1;PAIRED=0.970588;PAIREDR=0.973475;PAO=0;PQA=0;PQR=0;PRO=0;QA=9381;QR=11367;RO=377;RPL=143;RPP=21.6339;RPPR=57.205;RPR=197;RUN=1;SAF=199;SAP=24.4951;SAR=141;SF=0;SRF=233;SRP=48.6343;SRR=144;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;1000g2015aug_all=0.000599042;avsnp147=rs200190237;Kaviar_AF=0.0013389;Kaviar_AC=207;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0003;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0023;ExAC_NFE=0.0014;ExAC_OTH=0.0044;ExAC_SAS=0.0021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0018;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-582.085,0,-747.797:728:377:340:9381:11367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32418186 . T A 12063.24 . AB=0.51472;ABP=4.99205;AC=57;AF=0.5;AN=102;AO=542;CIGAR=1X;DP=57830;DPB=1053;DPRA=0;EPP=38.4109;EPPR=115.809;GTI=0;LEN=1;MEANALT=3;MQM=39.0018;MQMR=39.8477;NS=1;NUMALT=1;ODDS=2234.03;PAIRED=0.968635;PAIREDR=0.977956;PAO=0;PQA=0;PQR=0;PRO=0;QA=15896;QR=15226;RO=499;RPL=271;RPP=3.0103;RPPR=22.5448;RPR=271;RUN=1;SAF=271;SAP=3.0103;SAR=271;SF=0,1;SRF=247;SRP=3.11909;SRR=252;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.2633;esp6500siv2_ea=0.2615;esp6500siv2_all=0.2633;esp6500siv2_ea=0.2615;1000g2015aug_all=0.204073;avsnp147=rs17557695;Kaviar_AF=0.224053;Kaviar_AC=34639;Kaviar_AN=154602;ExAC_ALL=0.2325;ExAC_AFR=0.2730;ExAC_AMR=0.1081;ExAC_EAS=0.0436;ExAC_FIN=0.2624;ExAC_NFE=0.2563;ExAC_OTH=0.2560;ExAC_SAS=0.2786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4924;dpsi_zscore=1.125;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2255;gnomAD_exome_AFR=0.2736;gnomAD_exome_AMR=0.1190;gnomAD_exome_ASJ=0.2216;gnomAD_exome_EAS=0.0450;gnomAD_exome_FIN=0.2596;gnomAD_exome_NFE=0.2592;gnomAD_exome_OTH=0.2168;gnomAD_exome_SAS=0.2793;gnomAD_genome_ALL=0.2489;gnomAD_genome_AFR=0.2733;gnomAD_genome_AMR=0.1411;gnomAD_genome_ASJ=0.2483;gnomAD_genome_EAS=0.0414;gnomAD_genome_FIN=0.2471;gnomAD_genome_NFE=0.2637;gnomAD_genome_OTH=0.2469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1048.73,0,-991.288:1053:499:542:15896:15226 . 0/1:-1001.1,0,-952.977:1007:486:515:15225:14856 . 0/1:-877.532,0,-1321.46:1100:621:472:14221:19426 . . 0/1:-1125.01,0,-1336.88:1240:633:603:17573:19876 0/1:-834.4,0,-1042.1:955:506:443:12968:15696 . 0/1:-997.479,0,-989.052:1035:495:529:15406:15086 0/1:-923.631,0,-1297.95:1105:602:494:14638:18972 0/1:-997.535,0,-1041.09:1048:519:525:15533:15863 0/1:-969.106,0,-1077.46:1078:547:519:15127:16476 0/1:-802.956,0,-897.016:869:426:432:12586:13474 0/1:-1541.74,0,-1588.82:1570:770:792:23667:23972 . 0/1:-1934.55,0,-2398.32:2142:1138:996:30050:35463 0/1:-951.18,0,-1196.17:1071:575:496:14902:17759 . . 1/1:-3382.01,-364.691,0:1359:20:1328:39925:500 1/1:-1534.03,-158.058,0:666:22:640:18559:468 . 0/1:-1310.57,0,-1263.23:1290:619:666:20005:19321 0/1:-819.072,0,-936.533:916:464:442:12861:14203 1/1:-2637.69,-235.316,0:1126:44:1074:32130:1188 . . . . 0/1:-1298.39,0,-1584.53:1427:753:668:20072:23312 . . . 0/1:-910.072,0,-1422.93:1174:664:505:14902:20567 . 1/1:-2872.36,-273.716,0:1190:38:1143:34518:953 0/1:-870.89,0,-1175.79:1035:559:472:13739:17442 . 0/1:-1311.39,0,-1370.78:1379:678:691:20363:20907 . 0/1:-979.535,0,-1176.94:1081:568:507:15234:17616 0/1:-977.282,0,-1307.43:1129:612:511:15346:19202 0/1:-1378.41,0,-1400.85:1398:689:699:20983:21366 . 1/1:-2621.79,-298.804,0:1092:12:1069:31224:314 . 0/1:-795.412,0,-1162.89:990:551:428:12689:17097 . 0/1:-980.011,0,-1128.81:1049:536:508:15101:16631 . 0/1:-1184.92,0,-1427.85:1305:672:624:18413:21206 0/1:-1066.37,0,-1335.44:1196:637:552:16600:19719 . . . 0/1:-561.199,0,-846.659:725:402:316:9057:12409 . . . 0/1:-1272.91,0,-1295.05:1296:641:645:19251:19705 . . 0/1:-1361.15,0,-1470.46:1428:724:699:20876:22399 . . . . . 0/1:-1028.33,0,-1081.32:1071:529:530:15699:16280 . . . . . . . . . 1/1:-2645.72,-249.398,0:1113:41:1065:31921:1036 . . . . . 0/1:-663.811,0,-942.901:814:446:362:10582:13802 0/1:-1141.96,0,-1321.09:1271:649:616:17889:20022 . 0/1:-1102.01,0,-1289.85:1207:609:590:17131:19310 . 0/1:-901.4,0,-1165.6:1045:556:483:14219:17328 0/1:-1045.57,0,-1414.29:1226:668:553:16476:20677 . 0/1:-1089.72,0,-1384.25:1278:668:601:17398:20550 . . 0/1:-1059.11,0,-1323.04:1120:596:521:16096:19118:596,521 0/1:-1210.4,0,-1309.84:1220:617:596:18326:19370:617,596 0/1:-564.796,0,-642.365:581:297:278:8484:9424:297,278 . . 0/1:-904.141,0,-1268.38:1046:572:467:14069:18213:572,467 0/1:-958.543,0,-1323.63:1069:597:470:14784:19012:597,470 . . . . . . 0/1:-815.325,0,-1365.64:1046:612:431:13058:19449:612,431 . 0/1:-1082.85,0,-1397.75:1170:634:529:16503:20163:634,529 . 0/1:-1075.92,0,-1088.8:1028:513:510:15962:16232:513,510 0/1:-948.313,0,-1138.34:1001:527:468:14404:16695:527,468 chr18 32418752 . C T 6480.38 . AB=0.482024;ABP=5.11816;AC=1;AF=0.5;AN=2;AO=362;CIGAR=1X;DP=751;DPB=751;DPRA=0;EPP=9.15281;EPPR=10.4553;GTI=0;LEN=1;MEANALT=3;MQM=36.221;MQMR=38.9259;NS=1;NUMALT=1;ODDS=1492.16;PAIRED=0.892265;PAIREDR=0.92328;PAO=0;PQA=0;PQR=0;PRO=0;QA=11038;QR=11338;RO=378;RPL=116;RPP=104.386;RPPR=11.3056;RPR=246;RUN=1;SAF=187;SAP=3.87409;SAR=175;SF=0;SRF=201;SRP=6.31921;SRR=177;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198942:exon6:c.C343T:p.H115Y,DTNA:NM_001390:exon12:c.C1216T:p.H406Y,DTNA:NM_001391:exon12:c.C1216T:p.H406Y,DTNA:NM_032978:exon12:c.C1207T:p.H403Y;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0028;1000g2015aug_all=0.00119808;avsnp147=rs139872140;Kaviar_AF=0.0013971;Kaviar_AC=216;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0006;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0021;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=55596;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.979;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.135;MutationAssessor_pred=M;FATHMM_score=1.85;FATHMM_pred=T;PROVEAN_score=-2.05;PROVEAN_pred=N;VEST3_score=0.887;CADD_raw=2.625;CADD_phred=20.4;DANN_score=0.998;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.835;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.95;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.555;GDI_full_10282015=.;dpsi_max_tissue=-0.6846;dpsi_zscore=-1.257;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-666.817,0,-737.439:751:378:362:11038:11338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32418812 . G C 14936.60 . AB=0.512309;ABP=4.98817;AC=1;AF=0.5;AN=2;AO=770;CIGAR=1X;DP=1503;DPB=1503;DPRA=0;EPP=16.0504;EPPR=3.02243;GTI=0;LEN=1;MEANALT=3;MQM=39.2792;MQMR=39.5726;NS=1;NUMALT=1;ODDS=3303.52;PAIRED=0.919481;PAIREDR=0.944134;PAO=0;PQA=0;PQR=0;PRO=0;QA=23134;QR=22240;RO=716;RPL=519;RPP=205.561;RPPR=94.8308;RPR=251;RUN=1;SAF=348;SAP=18.4531;SAR=422;SF=0;SRF=344;SRP=5.388;SRR=372;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8947;dpsi_zscore=-1.407;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1525.9,0,-1452.89:1503:716:770:23134:22240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32428317 . G A 6881.60 . AB=0.491549;ABP=3.45071;AC=1;AF=0.5;AN=2;AO=349;CIGAR=1X;DP=710;DPB=710;DPRA=0;EPP=38.009;EPPR=40.7567;GTI=0;LEN=1;MEANALT=3;MQM=39.1433;MQMR=39.24;NS=1;NUMALT=1;ODDS=1576.78;PAIRED=0.95702;PAIREDR=0.948571;PAO=0;PQA=0;PQR=0;PRO=0;QA=10759;QR=10748;RO=350;RPL=172;RPP=3.16585;RPPR=3.0103;RPR=177;RUN=1;SAF=198;SAP=16.7547;SAR=151;SF=0;SRF=183;SRP=4.59858;SRR=167;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DTNA:NM_001198943:exon4:c.G393A:p.A131A,DTNA:NM_032981:exon4:c.G189A:p.A63A,DTNA:NM_001198944:exon5:c.G279A:p.A93A,DTNA:NM_032980:exon5:c.G267A:p.A89A,DTNA:NM_001198942:exon7:c.G450A:p.A150A,DTNA:NM_001198941:exon11:c.G1143A:p.A381A,DTNA:NM_001198938:exon12:c.G1143A:p.A381A,DTNA:NM_001198939:exon12:c.G1143A:p.A381A,DTNA:NM_001198940:exon12:c.G1143A:p.A381A,DTNA:NM_001390:exon13:c.G1323A:p.A441A,DTNA:NM_001391:exon13:c.G1323A:p.A441A,DTNA:NM_032975:exon13:c.G1152A:p.A384A,DTNA:NM_032978:exon13:c.G1314A:p.A438A,DTNA:NM_032979:exon13:c.G1152A:p.A384A;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs144776465;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=243060;CLNDN=Left_ventricular_noncompaction_1|not_specified;CLNDISDB=MedGen:C1858725,OMIM:604169|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.4431;dpsi_zscore=-2.027;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-700.697,0,-696.373:710:350:349:10759:10748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32444040 . G A 15492.99 . AB=0.508897;ABP=3.97626;AC=74;AF=0.5;AN=130;AO=715;CIGAR=1X;DP=91609;DPB=1405;DPRA=0;EPP=315.948;EPPR=74.2353;GTI=0;LEN=1;MEANALT=3;MQM=39.5469;MQMR=38.727;NS=1;NUMALT=1;ODDS=2646.33;PAIRED=0.900699;PAIREDR=0.870515;PAO=0;PQA=0;PQR=0;PRO=0;QA=19000;QR=19086;RO=641;RPL=252;RPP=138.222;RPPR=38.9497;RPR=463;RUN=1;SAF=363;SAP=3.37778;SAR=352;SF=0,1;SRF=443;SRP=206.353;SRR=198;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.3869;esp6500siv2_ea=0.3304;esp6500siv2_all=0.3869;esp6500siv2_ea=0.3304;1000g2015aug_all=0.29373;avsnp147=rs1617318;Kaviar_AF=0.28933;Kaviar_AC=44731;Kaviar_AN=154602;ExAC_ALL=0.3586;ExAC_AFR=0.5402;ExAC_AMR=0.2023;ExAC_EAS=0.0652;ExAC_FIN=0.4342;ExAC_NFE=0.3944;ExAC_OTH=0.3937;ExAC_SAS=0.3032;CLNALLELEID=55581;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1360;dpsi_zscore=0.583;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2931;gnomAD_exome_AFR=0.5146;gnomAD_exome_AMR=0.1664;gnomAD_exome_ASJ=0.3214;gnomAD_exome_EAS=0.0471;gnomAD_exome_FIN=0.3654;gnomAD_exome_NFE=0.3339;gnomAD_exome_OTH=0.3063;gnomAD_exome_SAS=0.2752;gnomAD_genome_ALL=0.3756;gnomAD_genome_AFR=0.5089;gnomAD_genome_AMR=0.1933;gnomAD_genome_ASJ=0.3344;gnomAD_genome_EAS=0.0427;gnomAD_genome_FIN=0.3459;gnomAD_genome_NFE=0.3532;gnomAD_genome_OTH=0.3605;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1225.29,0,-1189.24:1405:641:715:19000:19086 . 0/1:-1036.94,0,-1067.58:1195:556:601:16501:16776 . 0/1:-1461.71,0,-1087.39:1535:624:856:22623:18230 0/1:-1612.5,0,-1514.68:1815:815:942:25197:24138 . 0/1:-1196.68,0,-1321.17:1449:699:707:19072:20700 0/1:-1078.85,0,-1003.46:1243:557:632:16695:16281 0/1:-1506.97,0,-1436.73:1735:779:900:23818:23284 0/1:-1317.01,0,-959.113:1350:556:752:19971:16201 0/1:-1409.69,0,-1094.89:1428:603:790:21217:17947 0/1:-1255.9,0,-964.758:1277:524:711:19115:15805 0/1:-1123.69,0,-1018.26:1309:574:674:18010:16677 0/1:-920.393,0,-1027.3:1138:547:552:14719:16033 0/1:-1659.89,0,-1646.9:1901:868:975:26003:25767 . . 0/1:-1281.46,0,-1056.4:1381:586:752:19718:17460 0/1:-1011.82,0,-981.571:1190:543:607:16099:16003 0/1:-888.401,0,-1006.05:1113:543:535:14459:16050 1/1:-4247.87,-532.897,0:1951:15:1881:50018:435 1/1:-2418.49,-299.116,0:1137:16:1095:29167:399 . 0/1:-1586.78,0,-1213.25:1617:674:898:24169:20178 0/1:-1214,0,-957.446:1309:550:707:18688:16124 1/1:-3442.3,-379.697,0:1616:39:1540:41332:1172 . 0/1:-1019.31,0,-912.301:1189:521:623:16268:15345 . 0/1:-1139.4,0,-1051.21:1276:565:675:17813:16813 0/1:-1778.64,0,-1466.21:1893:814:1008:27054:24052 . 0/1:-710.091,0,-708.435:873:399:438:11759:11729 . 0/1:-1459.15,0,-1259.82:1580:672:853:22659:20244 . 1/1:-3820.94,-489.925,0:1723:7:1672:44887:213 0/1:-1280.19,0,-948.139:1344:553:747:19694:15990 . 1/1:-4263.6,-534.249,0:1956:17:1886:50624:460 . 0/1:-1302.5,0,-1150.94:1432:620:763:20263:18575 0/1:-1321.44,0,-1078.9:1421:605:764:20374:17860 0/1:-1559.74,0,-1576.15:1788:847:896:24395:24805 . 0/1:-1122.87,0,-1194.42:1373:648:687:17833:19178 . 0/1:-1146.24,0,-999.412:1219:540:643:17609:16267 . 0/1:-1244.73,0,-1385.12:1548:736:764:20291:21809 . 0/1:-1700.47,0,-1434.43:1819:792:967:26362:23289 0/1:-1544.36,0,-1154.84:1646:671:908:23937:19573 0/1:-853.96,0,-827.194:1047:461:541:13859:13430 . 0/1:-1422.41,0,-1202.13:1504:650:818:21905:19397 0/1:-806.842,0,-760.723:940:428:484:12659:12376 . . . 0/1:-1531.23,0,-1390.97:1763:770:935:23962:22682 . . 0/1:-1858.26,0,-1305.62:1829:742:1032:28085:21918 . . . . . 0/1:-1255.78,0,-1254.36:1479:666:755:19977:20113 . . 0/1:-937.225,0,-740.427:1172:483:634:15233:13219 . . . . 0/1:-804.789,0,-748.997:915:414:470:12669:12341 . 1/1:-3916.97,-464.705,0:1818:30:1737:46688:796 . . . . . 0/1:-999.104,0,-805.625:1051:450:574:15532:13237 0/1:-1537.15,0,-1206.05:1613:679:880:23810:19736 . 0/1:-1349.56,0,-1048.25:1377:579:762:20602:17321 . 0/1:-1136.48,0,-990.914:1252:543:664:17793:16433 0/1:-1539.97,0,-1226.96:1578:671:869:23588:19870 . 0/1:-1449.24,0,-1248.88:1590:682:865:22381:20503 . . 0/1:-1424.44,0,-1293.13:1324:615:689:21194:19817:615,689 0/1:-1670.08,0,-1211.47:1403:603:782:24277:19089:603,782 0/1:-818.364,0,-699.452:747:346:390:12148:11067:346,390 0/1:-1450.4,0,-957.876:1211:494:694:21162:15748:494,694 . 0/1:-1273.3,0,-1030.72:1130:506:611:18860:16361:506,611 1/1:-3525.28,-345.587,0:1385:25:1349:41990:782:25,1349 0/1:-1218.3,0,-1023.05:1106:500:595:18154:15978:500,595 . . . . 1/1:-3481.73,-376.088,0:1351:10:1330:41107:321:10,1330 0/1:-1983.68,0,-1358.71:1640:686:939:28725:21684:686,939 . 0/1:-1451.21,0,-1272.45:1330:620:698:21501:19715:620,698 0/1:-1395.78,0,-1031.76:1169:497:663:20524:16039:497,663 0/1:-1259.67,0,-1015.28:1135:504:614:18744:16006:504,614 1/1:-4050.71,-427.399,0:1576:15:1547:47716:514:15,1547 chr18 32455193 . G T 2814.61 . AB=0.462264;ABP=8.25461;AC=1;AF=0.5;AN=2;AO=196;CIGAR=1X;DP=424;DPB=424;DPRA=0;EPP=10.4997;EPPR=7.77458;GTI=0;LEN=1;MEANALT=3;MQM=35.0714;MQMR=36.4627;NS=1;NUMALT=1;ODDS=648.088;PAIRED=0.943878;PAIREDR=0.885572;PAO=0;PQA=0;PQR=0;PRO=0;QA=5216;QR=5656;RO=201;RPL=67;RPP=45.5977;RPPR=70.434;RPR=129;RUN=1;SAF=86;SAP=9.39177;SAR=110;SF=0;SRF=99;SRP=3.10753;SRR=102;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000798722;avsnp147=rs192561043;Kaviar_AF=0.0018952;Kaviar_AC=293;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0004;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0033;ExAC_NFE=0.0026;ExAC_OTH=0.0034;ExAC_SAS=6.105e-05;CLNALLELEID=55582;CLNDN=Left_ventricular_noncompaction_1|not_specified|not_provided;CLNDISDB=MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.0900;dpsi_zscore=2.734;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0057;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0039;gnomAD_exome_NFE=0.0023;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=3.251e-05;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0028;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-294.3,0,-344.209:424:201:196:5216:5656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32455379 . T C 4765.30 . AB=0.45935;ABP=10.072;AC=24;AF=0.5;AN=48;AO=226;CIGAR=1X;DP=13483;DPB=492;DPRA=0;EPP=4.89352;EPPR=5.43329;GTI=0;LEN=1;MEANALT=3;MQM=37.4823;MQMR=37.4131;NS=1;NUMALT=1;ODDS=940.003;PAIRED=0.911504;PAIREDR=0.880309;PAO=0;PQA=0;PQR=0;PRO=0;QA=6877;QR=7921;RO=259;RPL=138;RPP=27.031;RPPR=18.5124;RPR=88;RUN=1;SAF=90;SAP=23.3414;SAR=136;SF=0,1;SRF=110;SRP=15.7625;SRR=149;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1728;esp6500siv2_ea=0.1264;esp6500siv2_all=0.1728;esp6500siv2_ea=0.1264;1000g2015aug_all=0.128195;avsnp147=rs541157;Kaviar_AF=0.121732;Kaviar_AC=18820;Kaviar_AN=154602;ExAC_ALL=0.1237;ExAC_AFR=0.2697;ExAC_AMR=0.0544;ExAC_EAS=0.0118;ExAC_FIN=0.1633;ExAC_NFE=0.1218;ExAC_OTH=0.1331;ExAC_SAS=0.1311;CLNALLELEID=140881;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1607;dpsi_zscore=0.641;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1192;gnomAD_exome_AFR=0.2714;gnomAD_exome_AMR=0.0614;gnomAD_exome_ASJ=0.1208;gnomAD_exome_EAS=0.0138;gnomAD_exome_FIN=0.1594;gnomAD_exome_NFE=0.1216;gnomAD_exome_OTH=0.1056;gnomAD_exome_SAS=0.1307;gnomAD_genome_ALL=0.1694;gnomAD_genome_AFR=0.2656;gnomAD_genome_AMR=0.0764;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.0105;gnomAD_genome_FIN=0.1563;gnomAD_genome_NFE=0.1417;gnomAD_genome_OTH=0.1395;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-420.63,0,-506.012:492:259:226:6877:7921 . 0/1:-464.591,0,-469.135:504:237:254:7610:7394 0/1:-581.634,0,-781.99:735:389:330:9799:12167 . 0/1:-596.412,0,-643.966:645:316:319:9480:9932 . . . . . 0/1:-326.924,0,-516.922:460:249:199:5764:7867 0/1:-388.446,0,-433.443:434:214:208:6162:6822 0/1:-629.823,0,-940.983:825:452:356:10654:14291 . . . . . . . . . . 0/1:-555.535,0,-605.774:601:290:296:8814:9259 . . . . . . . . . . 0/1:-524.602,0,-532.144:545:259:276:8576:8261 . . 0/1:-628.608,0,-651.867:662:324:326:9911:10225 . 0/1:-403.259,0,-637.397:576:311:249:7067:9862 . . . . . 0/1:-422.447,0,-570.593:529:276:234:6895:8676 . 0/1:-578.965,0,-594.657:614:296:306:9127:9446 . 0/1:-557.63,0,-620.288:637:319:299:8948:9959 . 0/1:-307.201,0,-347.595:395:188:192:5244:5777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-297.592,0,-428.763:384:208:161:4818:6455 0/1:-576.498,0,-609.931:628:294:312:9183:9493 . . . 0/1:-518.417,0,-560.715:582:290:281:8285:8984 0/1:-489.986,0,-565.154:557:288:249:7715:8995 . . . . . 0/1:-562.219,0,-684.849:597:314:272:8577:10166:314,272 . . . . . 0/1:-521.672,0,-536.358:516:255:253:7857:8170:255,253 . . . . 0/1:-482.308,0,-566.384:510:263:243:7571:8417:263,243 . . . 0/1:-450.626,0,-517.692:482:246:224:6901:7803:246,224 . 0/1:-568.657,0,-613.631:573:289:275:8540:9115:289,275 chr18 32459615 . G A 5422.94 . AB=0.45283;ABP=15.3017;AC=1;AF=0.5;AN=2;AO=288;CIGAR=1X;DP=636;DPB=636;DPRA=0;EPP=4.48811;EPPR=7.43173;GTI=0;LEN=1;MEANALT=3;MQM=38.75;MQMR=39.3886;NS=1;NUMALT=1;ODDS=1248.68;PAIRED=0.965278;PAIREDR=0.96988;PAO=0;PQA=0;PQR=0;PRO=0;QA=8740;QR=10242;RO=332;RPL=166;RPP=17.6074;RPPR=7.43173;RPR=122;RUN=1;SAF=157;SAP=8.10723;SAR=131;SF=0;SRF=178;SRP=6.77767;SRR=154;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DTNA:NM_001198943:exon10:c.G1083A:p.A361A,DTNA:NM_001198944:exon11:c.G969A:p.A323A,DTNA:NM_032980:exon11:c.G957A:p.A319A,DTNA:NM_001198942:exon13:c.G1140A:p.A380A,DTNA:NM_001198938:exon18:c.G1833A:p.A611A,DTNA:NM_001198940:exon18:c.G1833A:p.A611A,DTNA:NM_001198939:exon19:c.G1854A:p.A618A,DTNA:NM_001390:exon19:c.G2013A:p.A671A,DTNA:NM_032975:exon19:c.G1842A:p.A614A;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs369914309;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.65e-05;ExAC_AFR=0;ExAC_AMR=8.694e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=507361;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0211;dpsi_zscore=-0.111;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.625e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.961e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.953e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-552.567,0,-690.688:636:332:288:8740:10242 . . . . . . . . . . . . . . . . . . . . . chr18 32459697 . G A 2943.07 . AB=0.522876;ABP=4.40118;AC=1;AF=0.5;AN=2;AO=160;CIGAR=1X;DP=306;DPB=306;DPRA=0;EPP=4.36747;EPPR=23.4033;GTI=0;LEN=1;MEANALT=3;MQM=39.0063;MQMR=39.1014;NS=1;NUMALT=1;ODDS=541.014;PAIRED=0.98125;PAIREDR=0.985507;PAO=0;PQA=0;PQR=0;PRO=0;QA=4583;QR=3930;RO=138;RPL=71;RPP=7.40753;RPPR=6.09442;RPR=89;RUN=1;SAF=72;SAP=6.48466;SAR=88;SF=0;SRF=65;SRP=4.01736;SRR=73;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0105;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0105;1000g2015aug_all=0.00559105;avsnp147=rs76713874;Kaviar_AF=0.0074255;Kaviar_AC=1148;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0012;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0166;ExAC_NFE=0.0102;ExAC_OTH=0.0078;ExAC_SAS=0.0017;CLNALLELEID=44692;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858725,OMIM:604169|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0076;dpsi_zscore=0.051;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0073;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0112;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0192;gnomAD_exome_NFE=0.0098;gnomAD_exome_OTH=0.0060;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0126;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0201;gnomAD_genome_NFE=0.0189;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-302.516,0,-244.608:306:138:160:4583:3930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32464661 . C G 3549.09 . AB=0.415673;ABP=39.2669;AC=1;AF=0.5;AN=2;AO=244;CIGAR=1X;DP=587;DPB=587;DPRA=0;EPP=81.6461;EPPR=104.805;GTI=0;LEN=1;MEANALT=3;MQM=37.9467;MQMR=38.7012;NS=1;NUMALT=1;ODDS=817.208;PAIRED=0.967213;PAIREDR=0.954268;PAO=0;PQA=0;PQR=0;PRO=0;QA=6562;QR=9671;RO=328;RPL=84;RPP=54.4137;RPPR=71.8883;RPR=160;RUN=1;SAF=159;SAP=51.7438;SAR=85;SF=0;SRF=215;SRP=71.8883;SRR=113;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs776768695;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.238e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8328;dpsi_zscore=-2.116;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.96e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-383.117,0,-646.285:587:328:244:6562:9671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 32470291 . G A 10371.49 . AB=0;ABP=0;AC=61;AF=1;AN=104;AO=948;CIGAR=1X;DP=50977;DPB=1001;DPRA=0;EPP=9.68964;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=37.1181;MQMR=34.15;NS=1;NUMALT=1;ODDS=1152.59;PAIRED=0.941983;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=26951;QR=575;RO=20;RPL=336;RPP=177.498;RPPR=6.91895;RPR=612;RUN=1;SAF=579;SAP=104.025;SAR=369;SF=0,1;SRF=11;SRP=3.44459;SRR=9;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198938:exon20:c.G2062A:p.E688K;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.266973;avsnp147=rs9944927;Kaviar_AF=0.0590484;Kaviar_AC=9129;Kaviar_AN=154602;ExAC_ALL=0.2406;ExAC_AFR=0.5520;ExAC_AMR=0.25;ExAC_EAS=0.0354;ExAC_FIN=0.5;ExAC_NFE=0.2485;ExAC_OTH=0.1818;ExAC_SAS=0.2201;CLNALLELEID=140884;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.2;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.054;CADD_raw=2.442;CADD_phred=19.09;DANN_score=0.926;fathmm-MKL_coding_score=0.198;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=4.71;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.244;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=6.417;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2017;gnomAD_exome_AFR=0.5731;gnomAD_exome_AMR=0.1306;gnomAD_exome_ASJ=0.2759;gnomAD_exome_EAS=0.0185;gnomAD_exome_FIN=0.1767;gnomAD_exome_NFE=0.2083;gnomAD_exome_OTH=0.2196;gnomAD_exome_SAS=0.2164;gnomAD_genome_ALL=0.2936;gnomAD_genome_AFR=0.5736;gnomAD_genome_AMR=0.1396;gnomAD_genome_ASJ=0.2867;gnomAD_genome_EAS=0.0092;gnomAD_genome_FIN=0.1879;gnomAD_genome_NFE=0.1994;gnomAD_genome_OTH=0.2249;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 1/1:-2177.09,-245.731,0:1001:20:948:26951:575 . 1/1:-2452.61,-245.346,0:1163:38:1070:31039:1071 . 1/1:-2004.21,-213.089,0:903:26:850:24598:672 0/1:-1176.43,0,-969.834:1186:523:632:18553:16132 . 0/1:-1044.07,0,-1040.15:1171:546:590:16952:16572 . 0/1:-872.022,0,-1035.55:1073:535:506:14368:16242 . . 0/1:-683.396,0,-779.852:790:393:372:10896:12101 0/1:-1246.29,0,-1400.01:1436:706:692:20141:21707 . . . . . . . 0/1:-1045.76,0,-1284.02:1283:652:596:17276:20109 0/1:-918.078,0,-947.242:1025:501:500:14593:15059 1/1:-1479.46,-170.686,0:726:16:681:19000:465 0/1:-946.634,0,-914.121:1038:482:519:15164:14708 . . 0/1:-717.552,0,-591.366:752:323:402:11367:9801 . . 0/1:-847.515,0,-1136.34:1096:578:483:13924:17820 0/1:-541.133,0,-632.234:643:327:302:8560:9792 . 0/1:-879.25,0,-1182.63:1120:585:503:14798:18041 0/1:-534.631,0,-687.682:678:350:301:8728:10678 0/1:-808.852,0,-1163.89:1083:590:456:13453:17972 . 0/1:-540.508,0,-548.278:602:285:303:8572:8686 . . . 1/1:-2249.92,-240.208,0:1008:21:956:27550:618 . 1/1:-2367.56,-277.494,0:1066:17:1015:28911:431 . 0/1:-472.488,0,-677.513:610:324:268:7759:10191 . . 0/1:-950.611,0,-1202.44:1198:611:557:15646:18883 . 1/1:-3129.84,-366.907,0:1407:17:1328:38276:465 . 0/1:-564.819,0,-641.837:692:338:326:9513:10437 . 0/1:-873.71,0,-1023.59:1067:530:498:14133:16080 . 0/1:-614.008,0,-687.095:743:370:351:9957:11047 . . . . . 0/1:-1157.92,0,-1395.78:1381:701:640:18741:21533 0/1:-740.077,0,-1222.96:1056:599:435:12572:18607 . . 1/1:-1693.23,-180.063,0:776:17:736:21057:528 0/1:-804.673,0,-924.595:952:477:449:13178:14529 0/1:-921.376,0,-905.388:1033:486:515:14424:14684 . . 0/1:-467.609,0,-517.981:640:309:309:8385:8946 . . . . 1/1:-1531.44,-154.011,0:713:23:663:19099:691 . 0/1:-952.015,0,-1061.02:1106:538:548:15732:16642 0/1:-845.473,0,-1143.62:1116:577:506:14431:17860 . 0/1:-568.152,0,-1034.05:891:511:357:10249:15680 0/1:-684.008,0,-726.44:789:374:392:11229:11372 0/1:-748.651,0,-944.676:954:483:442:12526:14660 . . . . . 0/1:-749.56,0,-862.235:891:448:420:12133:13784 0/1:-1114.95,0,-1095.03:1194:569:599:17501:17324 . 0/1:-735.515,0,-1217.61:1090:614:449:13132:18686 . . . 0/1:-1088.14,0,-1597.28:1307:726:558:17095:23049:726,558 0/1:-533.774,0,-579.236:546:267:262:8140:8611:267,262 0/1:-872.388,0,-910.952:901:450:440:13386:13731:450,440 . 0/1:-905.482,0,-1051.39:988:492:468:13987:15656:492,468 . 0/1:-789.458,0,-1204.37:996:544:432:12835:17379:544,432 . . . . 0/1:-902.712,0,-1002.27:944:480:445:13690:14974:480,445 . 0/1:-1020.61,0,-973.404:1004:476:507:15440:14762:476,507 0/1:-1194.84,0,-1166.54:1162:553:590:18081:17619:553,590 0/1:-886.186,0,-983.507:953:481:452:13580:14844:481,452 . 0/1:-937.234,0,-1159.08:1034:540:478:14498:17059:540,478 chr18 34081864 . A C 7948.29 . AB=0.481818;ABP=5.5371;AC=1;AF=0.5;AN=2;AO=424;CIGAR=1X;DP=880;DPB=880;DPRA=0;EPP=12.0444;EPPR=37.5191;GTI=0;LEN=1;MEANALT=3;MQM=39.0189;MQMR=39.0068;NS=1;NUMALT=1;ODDS=1830.16;PAIRED=0.985849;PAIREDR=0.975225;PAO=0;PQA=0;PQR=0;PRO=0;QA=12841;QR=12948;RO=444;RPL=180;RPP=23.9875;RPPR=8.66395;RPR=244;RUN=1;SAF=303;SAP=172.651;SAR=121;SF=0;SRF=319;SRP=187.077;SRR=125;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000998403;avsnp147=rs148948969;Kaviar_AF=0.0004916;Kaviar_AC=76;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0108;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0047;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0682;dpsi_zscore=-0.341;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0.0055;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0043;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-823.219,0,-830.007:880:444:424:12841:12948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34092370 . T A 12263.40 . AB=0.55401;ABP=33.9724;AC=1;AF=0.5;AN=2;AO=677;CIGAR=1X;DP=1222;DPB=1222;DPRA=0;EPP=135.188;EPPR=59.2018;GTI=0;LEN=1;MEANALT=3;MQM=39.164;MQMR=38.6957;NS=1;NUMALT=1;ODDS=2140.09;PAIRED=0.966027;PAIREDR=0.973535;PAO=0;PQA=0;PQR=0;PRO=0;QA=19102;QR=15801;RO=529;RPL=244;RPP=117.585;RPPR=96.6053;RPR=433;RUN=1;SAF=399;SAP=49.9712;SAR=278;SF=0;SRF=321;SRP=55.4253;SRR=208;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751313305;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.422e-05;ExAC_AFR=0;ExAC_AMR=9.367e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.418e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1965;dpsi_zscore=0.716;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.518e-05;gnomAD_exome_AFR=6.565e-05;gnomAD_exome_AMR=5.972e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.402e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1268.18,0,-961.797:1222:529:677:19102:15801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34205551 . C T 4257.31 . AB=0.40979;ABP=53.5494;AC=17;AF=0.5;AN=30;AO=293;CIGAR=1X;DP=9653;DPB=715;DPRA=0;EPP=4.26279;EPPR=5.60547;GTI=0;LEN=1;MEANALT=3;MQM=30.3379;MQMR=34.0407;NS=1;NUMALT=1;ODDS=739.812;PAIRED=0.890785;PAIREDR=0.924119;PAO=0;PQA=0;PQR=0;PRO=0;QA=7427;QR=10844;RO=369;RPL=124;RPP=18.0179;RPPR=9.41879;RPR=169;RUN=1;SAF=208;SAP=115.134;SAR=85;SF=0,1;SRF=260;SRP=137.188;SRR=109;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon10:c.C1035T:p.S345S,FHOD3:NM_001281740:exon10:c.C1035T:p.S345S,FHOD3:NM_025135:exon10:c.C1035T:p.S345S;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0656;esp6500siv2_ea=0.0604;esp6500siv2_all=0.0656;esp6500siv2_ea=0.0604;1000g2015aug_all=0.0872604;avsnp147=rs60414347;Kaviar_AF=0.0643135;Kaviar_AC=9943;Kaviar_AN=154602;ExAC_ALL=0.0669;ExAC_AFR=0.0823;ExAC_AMR=0.0233;ExAC_EAS=0.2172;ExAC_FIN=0.0204;ExAC_NFE=0.0594;ExAC_OTH=0.0554;ExAC_SAS=0.0567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=2.410;CADD_phred=18.89;DANN_score=0.862;fathmm-MKL_coding_score=0.312;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=0.938;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=-0.343;phastCons7way_vertebrate=0.982;phastCons20way_mammalian=0.962;SiPhy_29way_logOdds=9.548;GDI_full_10282015=.;dpsi_max_tissue=-0.0579;dpsi_zscore=-0.299;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0617;gnomAD_exome_AFR=0.0759;gnomAD_exome_AMR=0.0239;gnomAD_exome_ASJ=0.0814;gnomAD_exome_EAS=0.2221;gnomAD_exome_FIN=0.0206;gnomAD_exome_NFE=0.0583;gnomAD_exome_OTH=0.0552;gnomAD_exome_SAS=0.0486;gnomAD_genome_ALL=0.0677;gnomAD_genome_AFR=0.0815;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.08;gnomAD_genome_EAS=0.2454;gnomAD_genome_FIN=0.0192;gnomAD_genome_NFE=0.0555;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-343.848,0,-639.316:715:369:293:7427:10844 . . . . . 0/1:-183.027,0,-385.012:468:255:173:4056:7259 . . . . . . . . . . . . 0/1:-291.809,0,-616.279:673:361:263:6216:10701 . . . . . . . . . . . . 0/1:-189.485,0,-393.069:415:228:160:3968:6710 . . . . 0/1:-413.003,0,-617.376:741:355:320:7995:10729 0/1:-349.219,0,-435.834:586:272:268:6609:8066 . . . . . . . 0/1:-385.908,0,-615.8:725:374:301:7468:11011 . . . . 0/1:-234.769,0,-438.347:455:237:181:4512:6988 . . . . . . . . . . . . . 0/1:-296.087,0,-733.248:726:426:254:6379:12314 . . . . . . . . . 0/1:-397.574,0,-538.603:720:329:329:8055:9728 . . . 1/1:-569.587,-70.2736,0:377:16:318:7950:369 . . . . . . . . . . . 1/1:-1980.38,-212.965,0:816:10:781:23310:297:10,781 . . . . . 0/1:-680.39,0,-782.155:734:372:346:10469:11696:372,346 . . . . 0/1:-610.344,0,-862.734:726:387:324:9420:12440:387,324 . . 0/1:-713.603,0,-814.747:776:382:377:10895:12237:382,377 . . . chr18 34205572 . C T 3216.68 . AB=0.438111;ABP=23.4377;AC=1;AF=0.5;AN=2;AO=269;CIGAR=1X;DP=614;DPB=614;DPRA=0;EPP=10.7679;EPPR=12.2071;GTI=0;LEN=1;MEANALT=3;MQM=32.0706;MQMR=34.0065;NS=1;NUMALT=1;ODDS=740.668;PAIRED=0.869888;PAIREDR=0.866013;PAO=0;PQA=0;PQR=0;PRO=0;QA=6711;QR=9286;RO=306;RPL=132;RPP=3.21211;RPPR=7.09778;RPR=137;RUN=1;SAF=165;SAP=33.0477;SAR=104;SF=0;SRF=182;SRP=26.8823;SRR=124;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon10:c.C1056T:p.G352G,FHOD3:NM_001281740:exon10:c.C1056T:p.G352G,FHOD3:NM_025135:exon10:c.C1056T:p.G352G;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000399361;avsnp147=rs142186343;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=3.368e-05;ExAC_AFR=0;ExAC_AMR=8.679e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.531e-05;ExAC_OTH=0;ExAC_SAS=6.381e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.26;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=2.130;CADD_phred=17.05;DANN_score=0.697;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-3.94;phyloP7way_vertebrate=-0.301;phyloP20way_mammalian=-0.883;phastCons7way_vertebrate=0.861;phastCons20way_mammalian=0.019;SiPhy_29way_logOdds=5.444;GDI_full_10282015=.;dpsi_max_tissue=-0.0369;dpsi_zscore=-0.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.584e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.26e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.46e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.816e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.676e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-333.416,0,-540.215:614:306:269:6711:9286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34205604 . G A 9588.01 . AB=0.51357;ABP=4.54257;AC=1;AF=0.5;AN=2;AO=492;CIGAR=1X;DP=958;DPB=958;DPRA=0;EPP=5.99387;EPPR=17.5108;GTI=0;LEN=1;MEANALT=3;MQM=39.3862;MQMR=39.6954;NS=1;NUMALT=1;ODDS=2036.58;PAIRED=0.949187;PAIREDR=0.92936;PAO=0;PQA=0;PQR=0;PRO=0;QA=14743;QR=13902;RO=453;RPL=196;RPP=47.1459;RPPR=48.1127;RPR=296;RUN=1;SAF=239;SAP=3.87536;SAR=253;SF=1;SRF=245;SRP=9.57265;SRR=208;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon10:c.G1088A:p.R363H,FHOD3:NM_001281740:exon10:c.G1088A:p.R363H,FHOD3:NM_025135:exon10:c.G1088A:p.R363H;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs754354392;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=4.145e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.554e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.22;MutationAssessor_pred=M;FATHMM_score=1.71;FATHMM_pred=T;PROVEAN_score=-3.58;PROVEAN_pred=D;VEST3_score=0.746;CADD_raw=7.412;CADD_phred=34;DANN_score=1.000;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.870;MetaSVM_pred=T;MetaLR_score=0.164;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.28;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.663;GDI_full_10282015=.;dpsi_max_tissue=0.0170;dpsi_zscore=0.116;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.963e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.075e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.317e-05;gnomAD_genome_ALL=6.462e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.671e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-971.888,0,-899.33:958:453:492:14743:13902:453,492 . . . . . . . . . . . . chr18 34232543 . G A 3335.83 . AB=0.486453;ABP=4.30463;AC=11;AF=0.5;AN=22;AO=395;CIGAR=1X;DP=4722;DPB=812;DPRA=0;EPP=14.1425;EPPR=6.00954;GTI=0;LEN=1;MEANALT=3;MQM=34.0177;MQMR=36.9974;NS=1;NUMALT=1;ODDS=1372.18;PAIRED=0.898734;PAIREDR=0.939948;PAO=0;PQA=0;PQR=0;PRO=0;QA=10833;QR=11610;RO=383;RPL=256;RPP=78.2642;RPPR=103.301;RPR=139;RUN=1;SAF=224;SAP=18.4525;SAR=171;SF=0,1;SRF=205;SRP=7.14347;SRR=178;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.G1297A:p.A433T;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0165735;avsnp147=rs62083981;Kaviar_AF=0.0063971;Kaviar_AC=989;Kaviar_AN=154602;ExAC_ALL=0.0340;ExAC_AFR=0.0093;ExAC_AMR=0.0063;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0383;ExAC_OTH=0.0455;ExAC_SAS=0.0352;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.58;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=-0.091;CADD_phred=1.795;DANN_score=0.649;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=0.197;phyloP7way_vertebrate=-1.190;phyloP20way_mammalian=-1.170;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=3.929;GDI_full_10282015=.;dpsi_max_tissue=-0.7188;dpsi_zscore=-1.285;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0222;gnomAD_exome_AFR=0.0157;gnomAD_exome_AMR=0.0084;gnomAD_exome_ASJ=0.0307;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0371;gnomAD_exome_NFE=0.0274;gnomAD_exome_OTH=0.0162;gnomAD_exome_SAS=0.0317;gnomAD_genome_ALL=0.0237;gnomAD_genome_AFR=0.0202;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0398;gnomAD_genome_NFE=0.0249;gnomAD_genome_OTH=0.0276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-613.979,0,-714.444:812:383:395:10833:11610 . . . . . . . . . . . . . 0/1:-411.924,0,-439.874:506:234:251:6864:7274 . . . . . . . . . . . . . . 0/1:-291.873,0,-410.347:429:215:200:5235:6587 . . . . . . . . . . . . 0/1:-303.002,0,-423.387:434:226:190:5262:6897 . 0/1:-469.154,0,-421.558:537:236:279:7742:7219 . . . . . . . . . . . . . . 0/1:-342.131,0,-434.548:480:246:222:6016:7338 . . 0/1:-244.586,0,-262.599:294:142:143:3974:4389 . . . . 0/1:-333.568,0,-310.153:387:170:205:5745:5162 . . . . . . . 0/1:-424.342,0,-407.739:497:224:253:7025:6824 . . . . . . 0/1:-141.146,0,-170.289:159:82:75:2232:2573:82,75 . . . . . . . . . . . . . . 0/1:-221.188,0,-150.852:187:74:105:3192:2381:74,105 . chr18 34232610 . C T 3248.54 . AB=0.460765;ABP=9.65579;AC=59;AF=0.5;AN=98;AO=229;CIGAR=1X;DP=18251;DPB=497;DPRA=0;EPP=56.3489;EPPR=43.4978;GTI=0;LEN=1;MEANALT=3;MQM=31.1616;MQMR=32.6613;NS=1;NUMALT=1;ODDS=663.164;PAIRED=0.930131;PAIREDR=0.923387;PAO=0;PQA=0;PQR=0;PRO=0;QA=6255;QR=7599;RO=248;RPL=68;RPP=85.0237;RPPR=80.3778;RPR=161;RUN=1;SAF=160;SAP=81.5342;SAR=69;SF=0,1;SRF=171;SRP=80.3778;SRR=77;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.C1364T:p.S455L;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.319489;avsnp147=rs2848901;Kaviar_AF=0.0853482;Kaviar_AC=13195;Kaviar_AN=154602;ExAC_ALL=0.3820;ExAC_AFR=0.3155;ExAC_AMR=0.5;ExAC_EAS=0.1888;ExAC_FIN=0.25;ExAC_NFE=0.3083;ExAC_OTH=0.2846;ExAC_SAS=0.4253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.34;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=1.357;CADD_phred=12.57;DANN_score=0.804;fathmm-MKL_coding_score=0.403;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.37;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.826;phastCons7way_vertebrate=0.031;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=15.833;GDI_full_10282015=.;dpsi_max_tissue=-0.8262;dpsi_zscore=-1.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3350;gnomAD_exome_AFR=0.2950;gnomAD_exome_AMR=0.4875;gnomAD_exome_ASJ=0.2973;gnomAD_exome_EAS=0.1699;gnomAD_exome_FIN=0.1841;gnomAD_exome_NFE=0.2812;gnomAD_exome_OTH=0.3288;gnomAD_exome_SAS=0.4271;gnomAD_genome_ALL=0.2691;gnomAD_genome_AFR=0.2800;gnomAD_genome_AMR=0.4761;gnomAD_genome_ASJ=0.2616;gnomAD_genome_EAS=0.1691;gnomAD_genome_FIN=0.1806;gnomAD_genome_NFE=0.2817;gnomAD_genome_OTH=0.2848;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-317.295,0,-422.186:497:248:229:6255:7599 0/1:-274.494,0,-278.616:365:170:184:4963:5074 . 0/1:-235.005,0,-336.196:386:195:176:4915:5953 1/1:-969.627,-117.402,0:503:14:471:13303:348 0/1:-176.166,0,-266.175:299:155:129:3542:4653 0/1:-310.852,0,-402.089:457:228:212:5897:7093 . . . . 0/1:-293.557,0,-261.405:369:165:196:5509:4947 . . . 0/1:-172.828,0,-276.308:303:169:123:3398:5201 . 0/1:-287.042,0,-329.318:376:181:183:4916:5626 . 0/1:-170.948,0,-257.195:292:152:131:3410:4677 . 1/1:-419.414,-63.0909,0:232:2:214:5576:41 . 0/1:-313.805,0,-374.003:456:217:225:5956:6611 . 0/1:-312.939,0,-396.188:447:225:213:5955:7005 . 0/1:-181.286,0,-253.836:317:162:144:3722:4760 1/1:-612.595,-82.9616,0:309:2:292:7913:63 0/1:-212.374,0,-320.791:354:188:153:4257:5665 . 1/1:-825.628,-106.051,0:432:9:403:11115:230 . . 0/1:-289.177,0,-340.262:434:210:207:5601:6479 . . 0/1:-286.456,0,-332.725:427:202:208:5550:6293 . . . . 0/1:-351.121,0,-353.353:444:209:225:6298:6203 . . . 0/1:-191.283,0,-233.118:265:136:123:3384:4185 . . 0/1:-377.589,0,-449.621:482:238:229:6633:7328 . . 0/1:-340.26,0,-491.54:513:263:228:6283:8176 . 0/1:-277.245,0,-269.359:327:146:171:4925:4732 . . . . 0/1:-112.801,0,-240.351:243:142:93:2466:4323 . 0/1:-299.334,0,-337.545:412:200:192:5371:6121 . . 0/1:-306.383,0,-385.044:436:219:203:5585:6840 0/1:-113.685,0,-211.287:209:115:89:2345:3573 0/1:-327.425,0,-317.609:408:191:204:5802:5858 . 0/1:-273.52,0,-365.703:423:214:196:5257:6579 . 0/1:-357.684,0,-486.395:518:260:238:6542:8132 . . . 0/1:-378.746,0,-466.032:555:266:263:6995:8301 . . . . . 0/1:-234.585,0,-446.61:446:260:170:4716:8054 . . . 0/1:-321.573,0,-306.687:392:180:201:5664:5622 . . 0/1:-226.025,0,-194.035:269:118:146:3944:3584 0/1:-202.632,0,-313.44:369:190:167:4316:5818 0/1:-301.081,0,-459.099:494:261:218:5747:8070 1/1:-756.309,-102.499,0:399:5:382:10321:168 . . . . 1/1:-880.191,-83.5414,0:351:7:339:10525:239:7,339 0/1:-281.904,0,-343.035:320:166:147:4409:5227:166,147 . . . 1/1:-846.776,-98.1358,0:337:0:326:10001:0:0,326 1/1:-767.465,-70.0397,0:323:9:310:9344:294:9,310 . 0/1:-243.179,0,-295.207:267:137:125:3770:4346:137,125 1/1:-671.083,-73.2321,0:282:4:274:8095:118:4,274 0/1:-340.212,0,-398.067:378:193:177:5252:6124:193,177 0/1:-195.398,0,-281.504:237:128:103:3113:4110:128,103 . . . . 0/1:-263.502,0,-389.517:329:182:141:4225:5755:182,141 1/1:-617.176,-62.111,0:254:5:243:7577:141:5,243 . 0/1:-319.839,0,-314.135:314:152:159:4849:4946:152,159 chr18 34232657 . G A 3374.15 . AB=0.361364;ABP=76.4653;AC=41;AF=0.5;AN=78;AO=159;CIGAR=1X;DP=20606;DPB=440;DPRA=0;EPP=19.7402;EPPR=50.5377;GTI=0;LEN=1;MEANALT=3;MQM=31.7484;MQMR=32.1089;NS=1;NUMALT=1;ODDS=384.257;PAIRED=0.930818;PAIREDR=0.848249;PAO=0;PQA=0;PQR=0;PRO=0;QA=4013;QR=7541;RO=257;RPL=78;RPP=3.13321;RPPR=36.5456;RPR=81;RUN=1;SAF=74;SAP=4.6628;SAR=85;SF=0,1;SRF=137;SRP=5.45215;SRR=120;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.G1411A:p.G471R;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0702875;avsnp147=rs72895597;Kaviar_AF=0.0329427;Kaviar_AC=5093;Kaviar_AN=154602;ExAC_ALL=0.1013;ExAC_AFR=0.0309;ExAC_AMR=0.0851;ExAC_EAS=0;ExAC_FIN=0.3333;ExAC_NFE=0.1429;ExAC_OTH=0.1567;ExAC_SAS=0.0885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.55;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=-0.089;CADD_phred=1.816;DANN_score=0.424;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=-0.555;phyloP7way_vertebrate=-1.573;phyloP20way_mammalian=-3.821;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=0.637;GDI_full_10282015=.;dpsi_max_tissue=0.2012;dpsi_zscore=0.725;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1186;gnomAD_exome_AFR=0.0271;gnomAD_exome_AMR=0.0735;gnomAD_exome_ASJ=0.1186;gnomAD_exome_EAS=0.0034;gnomAD_exome_FIN=0.2220;gnomAD_exome_NFE=0.1779;gnomAD_exome_OTH=0.1275;gnomAD_exome_SAS=0.0849;gnomAD_genome_ALL=0.1284;gnomAD_genome_AFR=0.0388;gnomAD_genome_AMR=0.0789;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.2302;gnomAD_genome_NFE=0.1720;gnomAD_genome_OTH=0.1471;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-180.089,0,-443.677:440:257:159:4013:7541 . . . 0/1:-244.197,0,-395.355:511:268:209:5130:7731 . . . . . . . 0/1:-184.782,0,-426.885:463:267:165:4171:7636 . . 0/1:-384.278,0,-630.821:746:388:320:8041:11227 . 0/1:-783.483,0,-682.977:1040:438:541:13980:12930 . . . . . 0/1:-379.859,0,-464.915:624:299:296:7189:8420 . 0/1:-206.484,0,-319.237:415:213:184:4382:6084 . 1/1:-957.827,-123.077,0:570:19:495:12725:479 . . 0/1:-258.218,0,-386.676:503:249:217:5346:7060 0/1:-372.347,0,-495.258:641:313:290:7261:9109 . . . . . . . . . 0/1:-298.098,0,-404.602:534:254:238:5760:7326 . . . 0/1:-367.579,0,-572.761:637:334:267:6782:9824 0/1:-365.182,0,-371.973:565:247:282:6931:7011 0/1:-214.692,0,-290.89:361:173:165:4057:5110 0/1:-219.982,0,-374.884:432:231:178:4399:6649 0/1:-378.047,0,-588.262:700:364:295:7367:10269 . . . . . . 0/1:-318.651,0,-453.24:567:284:253:6068:8138 . . 1/1:-974.482,-119.241,0:628:28:548:13259:721 . 0/1:-384.341,0,-576.353:701:354:314:7847:10331 . 0/1:-177.243,0,-255.362:351:166:149:3542:4831 . . . 0/1:-293.511,0,-484.033:555:284:243:6058:8578 . 0/1:-269.037,0,-466.644:548:281:237:5553:8268 0/1:-304.709,0,-392.839:534:246:237:5701:7039 . . . . . 0/1:-392.455,0,-565.794:690:340:302:7584:9745 0/1:-329.246,0,-558.908:631:329:264:6523:9453 0/1:-215.868,0,-275.402:370:174:169:4083:5007 0/1:-156.272,0,-298.964:345:182:141:3354:5039 . . . . 0/1:-299.326,0,-314.772:474:204:245:6013:5860 . 0/1:-171.565,0,-303.009:361:182:147:3619:5322 . . . . . 0/1:-359.58,0,-459.258:620:279:288:7000:8147 0/1:-285.402,0,-462.898:541:279:224:5802:8138 . . . 0/1:-440.312,0,-460.505:490:234:241:6952:7160:234,241 . 0/1:-279.156,0,-299.602:313:154:151:4417:4654:154,151 0/1:-316.662,0,-465.039:413:222:178:5180:6842:222,178 . . 0/1:-438.892,0,-465.156:491:251:233:7007:7311:251,233 . . 0/1:-483.312,0,-538.69:558:282:263:7680:8285:282,263 . 0/1:-312.953,0,-455.167:414:226:182:5275:6912:226,182 . . 0/1:-409.915,0,-427.856:439:213:215:6444:6525:213,215 . . 0/1:-391.591,0,-355.533:390:183:199:5887:5513:183,199 . chr18 34238099 . C T 3939.88 . AB=0.542636;ABP=9.12072;AC=2;AF=0.5;AN=4;AO=210;CIGAR=1X;DP=1044;DPB=387;DPRA=0;EPP=5.03701;EPPR=45.0457;GTI=0;LEN=1;MEANALT=3;MQM=30.5857;MQMR=29.858;NS=1;NUMALT=1;ODDS=516.399;PAIRED=0.871429;PAIREDR=0.851852;PAO=0;PQA=0;PQR=0;PRO=0;QA=5699;QR=4940;RO=162;RPL=122;RPP=14.9637;RPPR=3.22477;RPR=88;RUN=1;SAF=108;SAP=3.38255;SAR=102;SF=0;SRF=60;SRP=26.6552;SRR=102;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon11:c.C1258T:p.P420S,FHOD3:NM_025135:exon11:c.C1258T:p.P420S,FHOD3:NM_001281740:exon14:c.C1783T:p.P595S;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000599042;avsnp147=rs140934653;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0016;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.981;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.235;MutationAssessor_pred=N;FATHMM_score=2.14;FATHMM_pred=T;PROVEAN_score=-1.65;PROVEAN_pred=N;VEST3_score=0.245;CADD_raw=1.651;CADD_phred=14.13;DANN_score=0.875;fathmm-MKL_coding_score=0.378;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.006;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=1.42;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.077;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=3.824;GDI_full_10282015=.;dpsi_max_tissue=1.0943;dpsi_zscore=1.576;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=6.461e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.665e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-300.157,0,-238.571:387:162:210:5699:4940 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-509.668,0,-397.703:657:270:354:9188:8126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34238130 . C G 3296.80 . AB=0.547253;ABP=11.8346;AC=1;AF=0.5;AN=2;AO=249;CIGAR=1X;DP=455;DPB=455;DPRA=0;EPP=11.391;EPPR=31.5823;GTI=0;LEN=1;MEANALT=3;MQM=31.988;MQMR=28.1263;NS=1;NUMALT=1;ODDS=503.46;PAIRED=0.88755;PAIREDR=0.773684;PAO=0;PQA=0;PQR=0;PRO=0;QA=6276;QR=5339;RO=190;RPL=140;RPP=11.391;RPPR=6.71323;RPR=109;RUN=1;SAF=140;SAP=11.391;SAR=109;SF=0;SRF=92;SRP=3.42174;SRR=98;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon11:c.C1289G:p.P430R,FHOD3:NM_025135:exon11:c.C1289G:p.P430R,FHOD3:NM_001281740:exon14:c.C1814G:p.P605R;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000599042;avsnp147=rs144334799;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=8.655e-05;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0006;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=0.294;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.17;Polyphen2_HVAR_pred=B;LRT_score=0.317;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.845;MutationAssessor_pred=L;FATHMM_score=2.19;FATHMM_pred=T;PROVEAN_score=-2.69;PROVEAN_pred=D;VEST3_score=0.398;CADD_raw=0.801;CADD_phred=9.468;DANN_score=0.988;fathmm-MKL_coding_score=0.156;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.062;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=1.02;phyloP7way_vertebrate=-0.444;phyloP20way_mammalian=0.036;phastCons7way_vertebrate=0.745;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=14.657;GDI_full_10282015=.;dpsi_max_tissue=4.9454;dpsi_zscore=2.580;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=3.663e-05;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-341.223,0,-230.792:455:190:249:6276:5339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34261511 . C T 6202.87 . AB=0.495212;ABP=3.15586;AC=1;AF=0.5;AN=2;AO=362;CIGAR=1X;DP=731;DPB=731;DPRA=0;EPP=53.782;EPPR=14.4105;GTI=0;LEN=1;MEANALT=3;MQM=37.7707;MQMR=37.7768;NS=1;NUMALT=1;ODDS=1378.53;PAIRED=0.958564;PAIREDR=0.964286;PAO=0;PQA=0;PQR=0;PRO=0;QA=10101;QR=9831;RO=336;RPL=146;RPP=32.4032;RPPR=15.5221;RPR=216;RUN=1;SAF=221;SAP=41.401;SAR=141;SF=0;SRF=195;SRP=21.8556;SRR=141;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon12:c.C1423T:p.R475W,FHOD3:NM_025135:exon12:c.C1423T:p.R475W,FHOD3:NM_001281740:exon15:c.C1948T:p.R650W;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0095;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0095;1000g2015aug_all=0.00678914;avsnp147=rs9964535;Kaviar_AF=0.0096506;Kaviar_AC=1492;Kaviar_AN=154602;ExAC_ALL=0.0102;ExAC_AFR=0.0119;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0.0434;ExAC_NFE=0.0113;ExAC_OTH=0.0111;ExAC_SAS=0.0010;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.135;MutationAssessor_pred=M;FATHMM_score=2.12;FATHMM_pred=T;PROVEAN_score=-4.86;PROVEAN_pred=D;VEST3_score=0.318;CADD_raw=7.580;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.869;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.751;MetaSVM_pred=T;MetaLR_score=0.133;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.3;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=11.706;GDI_full_10282015=.;dpsi_max_tissue=-1.8809;dpsi_zscore=-1.861;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0104;gnomAD_exome_AFR=0.0115;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0033;gnomAD_exome_EAS=5.81e-05;gnomAD_exome_FIN=0.0417;gnomAD_exome_NFE=0.0108;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0170;gnomAD_genome_AFR=0.0129;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0447;gnomAD_genome_NFE=0.0157;gnomAD_genome_OTH=0.0215;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-640.079,0,-610.78:731:336:362:10101:9831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34273279 . C G 10624.17 . AB=0.489498;ABP=4.05935;AC=46;AF=0.5;AN=88;AO=536;CIGAR=1X;DP=55337;DPB=1095;DPRA=0;EPP=3.26958;EPPR=5.30951;GTI=0;LEN=1;MEANALT=3;MQM=33.7407;MQMR=33.9798;NS=1;NUMALT=1;ODDS=1936.12;PAIRED=0.923507;PAIREDR=0.871324;PAO=0;PQA=0;PQR=0;PRO=0;QA=15160;QR=16732;RO=544;RPL=246;RPP=10.8535;RPPR=3.0103;RPR=290;RUN=1;SAF=208;SAP=61.3484;SAR=328;SF=0,1;SRF=176;SRP=150.159;SRR=368;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon13:c.C1553G:p.A518G,FHOD3:NM_025135:exon14:c.C1604G:p.A535G,FHOD3:NM_001281740:exon17:c.C2129G:p.A710G;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.1443;esp6500siv2_ea=0.1810;esp6500siv2_all=0.1443;esp6500siv2_ea=0.1810;1000g2015aug_all=0.0902556;avsnp147=rs61735993;Kaviar_AF=0.136745;Kaviar_AC=21141;Kaviar_AN=154602;ExAC_ALL=0.1358;ExAC_AFR=0.0675;ExAC_AMR=0.0729;ExAC_EAS=0;ExAC_FIN=0.2008;ExAC_NFE=0.1783;ExAC_OTH=0.1723;ExAC_SAS=0.0937;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.97;Polyphen2_HVAR_pred=D;LRT_score=0.006;LRT_pred=N;MutationTaster_score=0.834;MutationTaster_pred=P;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=2.15;FATHMM_pred=T;PROVEAN_score=-1.24;PROVEAN_pred=N;VEST3_score=0.047;CADD_raw=1.318;CADD_phred=12.36;DANN_score=0.995;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.69;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.883;phastCons7way_vertebrate=0.260;phastCons20way_mammalian=0.073;SiPhy_29way_logOdds=11.351;GDI_full_10282015=.;dpsi_max_tissue=-0.0543;dpsi_zscore=-0.284;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1340;gnomAD_exome_AFR=0.0661;gnomAD_exome_AMR=0.0773;gnomAD_exome_ASJ=0.1421;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1923;gnomAD_exome_NFE=0.1802;gnomAD_exome_OTH=0.1418;gnomAD_exome_SAS=0.0910;gnomAD_genome_ALL=0.1384;gnomAD_genome_AFR=0.0765;gnomAD_genome_AMR=0.0919;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1993;gnomAD_genome_NFE=0.1770;gnomAD_genome_OTH=0.15;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-854.848,0,-965.749:1095:544:536:15160:16732 . . . 0/1:-899.443,0,-1111.4:1226:613:592:16745:18813 . . . 0/1:-959.587,0,-977.446:1106:538:555:16373:16741 . . . 0/1:-683.312,0,-1146.95:1096:620:464:13063:19203 . . 0/1:-1347.61,0,-1643.36:1750:880:845:23738:27368 0/1:-580.514,0,-788.885:889:468:400:11566:14481 0/1:-2171.28,0,-2117.22:2514:1161:1305:38095:36411 . . 0/1:-731.379,0,-788.682:915:447:457:12974:13901 . . 0/1:-1182.8,0,-1299.7:1509:731:756:21431:22771 . 0/1:-648.589,0,-957.403:1014:551:451:12891:16988 . 1/1:-2648.76,-280.393,0:1250:42:1190:34956:1157 . 0/1:-651.883,0,-861.433:865:444:401:11341:14068 . 0/1:-1025.17,0,-1507.21:1466:787:661:18653:24991 . . 0/1:-1029.06,0,-1205.5:1302:646:636:18306:20209 . . 0/1:-1060.82,0,-1104.85:1249:599:635:18736:19180 0/1:-923.597,0,-1164.74:1270:652:596:16854:20123 . . 0/1:-807.773,0,-1086.67:1138:600:525:14806:18548 . . 0/1:-1093.95,0,-1206.17:1406:681:699:19951:20995 . 0/1:-991.806,0,-1182.27:1295:641:637:18054:20130 . 0/1:-778.329,0,-868.157:987:483:492:13978:14959 0/1:-1133.06,0,-1466.97:1581:825:734:21138:25542 . . . . . . 0/1:-1140.3,0,-1214.33:1409:667:723:20398:20926 . . 0/1:-1055.71,0,-1248.93:1376:705:647:18623:21492 . 0/1:-1192.35,0,-1596.48:1669:878:774:22097:27342 . 0/1:-527.373,0,-868.363:895:493:386:10805:15151 . . 0/1:-467.684,0,-581.237:679:346:319:8952:10453 0/1:-859.023,0,-1049.5:1133:581:534:15239:18131 . . 0/1:-1098.54,0,-1201.48:1366:668:679:19554:21102 . . . . . 0/1:-1012.02,0,-1313.06:1407:709:675:18835:21903 . . 0/1:-610.204,0,-721.199:779:387:382:11111:12169 1/1:-2808.39,-338.791,0:1391:39:1327:37714:877 . . . 0/1:-856.883,0,-970.558:1106:561:524:15144:17048 . 0/1:-707.208,0,-888.258:947:486:450:13025:15242 0/1:-914.279,0,-1118.78:1223:627:573:16691:19094 . . . . 0/1:-1124.77,0,-1325.02:1426:724:686:19941:22510 0/1:-927.35,0,-1400.96:1393:755:617:17563:23441 . . 0/1:-1432.6,0,-1534.84:1438:726:696:21965:22988:726,696 0/1:-1385.89,0,-1499.44:1342:669:659:20779:22055:669,659 . 0/1:-959.682,0,-798.213:856:379:465:14167:12297:379,465 0/1:-1211.14,0,-1247.36:1205:601:593:18621:19140:601,593 . . 0/1:-1306.74,0,-1528.69:1362:704:639:20079:22801:704,639 . . 0/1:-1357.33,0,-1631.37:1418:736:666:21008:23812:736,666 . 0/1:-1217.61,0,-1403.22:1245:646:579:18401:20817:646,579 . . 0/1:-1376.51,0,-1406.57:1349:677:660:20870:21597:677,660 . . . . chr18 34273372 . C T 7639.92 . AB=0.492701;ABP=3.3907;AC=1;AF=0.5;AN=2;AO=405;CIGAR=1X;DP=822;DPB=822;DPRA=0;EPP=10.3504;EPPR=24.503;GTI=0;LEN=1;MEANALT=3;MQM=39.4074;MQMR=39.783;NS=1;NUMALT=1;ODDS=1759.16;PAIRED=0.960494;PAIREDR=0.957606;PAO=0;PQA=0;PQR=0;PRO=0;QA=12214;QR=12672;RO=401;RPL=270;RPP=100.727;RPPR=208.921;RPR=135;RUN=1;SAF=115;SAP=167.211;SAR=290;SF=1;SRF=122;SRP=136.488;SRR=279;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon13:c.C1646T:p.P549L,FHOD3:NM_025135:exon14:c.C1697T:p.P566L,FHOD3:NM_001281740:exon17:c.C2222T:p.P741L;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs376385732;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.648e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.599e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.739;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.145;MutationAssessor_pred=N;FATHMM_score=2.19;FATHMM_pred=T;PROVEAN_score=-0.88;PROVEAN_pred=N;VEST3_score=0.058;CADD_raw=-0.648;CADD_phred=0.095;DANN_score=0.586;fathmm-MKL_coding_score=0.093;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.980;MetaSVM_pred=T;MetaLR_score=0.034;MetaLR_pred=T;integrated_fitCons_score=0.693;integrated_confidence_value=0;GERP++_RS=2.05;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=-0.961;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.027;SiPhy_29way_logOdds=7.979;GDI_full_10282015=.;dpsi_max_tissue=0.1847;dpsi_zscore=0.693;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.041e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.804e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-799.351,0,-848.473:822:401:405:12214:12672:401,405 . . chr18 34289098 . G A 5954.72 . AB=0.500664;ABP=3.01318;AC=1;AF=0.5;AN=2;AO=377;CIGAR=1X;DP=753;DPB=753;DPRA=0;EPP=3.98372;EPPR=3.03429;GTI=0;LEN=1;MEANALT=3;MQM=35.3714;MQMR=36.6354;NS=1;NUMALT=1;ODDS=1371.13;PAIRED=0.920424;PAIREDR=0.966851;PAO=0;PQA=0;PQR=0;PRO=0;QA=10184;QR=10567;RO=362;RPL=227;RPP=37.1606;RPPR=4.95383;RPR=150;RUN=1;SAF=203;SAP=7.85435;SAR=174;SF=0;SRF=198;SRP=9.94462;SRR=164;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.G1701A:p.P567P,FHOD3:NM_025135:exon15:c.G1752A:p.P584P,FHOD3:NM_001281740:exon18:c.G2277A:p.P759P;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs140175501;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.329e-05;ExAC_AFR=0.0001;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.516e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8745;dpsi_zscore=-1.394;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.442e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.797e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=9.686e-05;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-607.241,0,-639.357:753:362:377:10184:10567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34289142 . A G 5322.56 . AB=0.419476;ABP=48.1232;AC=4;AF=0.5;AN=8;AO=336;CIGAR=1X;DP=3111;DPB=801;DPRA=0;EPP=6.73282;EPPR=19.1547;GTI=0;LEN=1;MEANALT=3;MQM=34.6042;MQMR=34.4073;NS=1;NUMALT=1;ODDS=1190.63;PAIRED=0.943452;PAIREDR=0.867277;PAO=0;PQA=0;PQR=0;PRO=0;QA=9638;QR=13218;RO=437;RPL=184;RPP=9.62812;RPPR=4.80412;RPR=152;RUN=1;SAF=162;SAP=3.94093;SAR=174;SF=0;SRF=226;SRP=4.12833;SRR=211;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.A1745G:p.Q582R,FHOD3:NM_025135:exon15:c.A1796G:p.Q599R,FHOD3:NM_001281740:exon18:c.A2321G:p.Q774R;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0335;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0335;1000g2015aug_all=0.014976;avsnp147=rs61735994;Kaviar_AF=0.027891;Kaviar_AC=4312;Kaviar_AN=154602;ExAC_ALL=0.0287;ExAC_AFR=0.0056;ExAC_AMR=0.0172;ExAC_EAS=0.0003;ExAC_FIN=0.0256;ExAC_NFE=0.0385;ExAC_OTH=0.05;ExAC_SAS=0.0268;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.463;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.463;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.2;FATHMM_pred=T;PROVEAN_score=-1.18;PROVEAN_pred=N;VEST3_score=0.012;CADD_raw=-1.504;CADD_phred=0.003;DANN_score=0.379;fathmm-MKL_coding_score=0.196;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.034;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=-8.78;phyloP7way_vertebrate=-0.839;phyloP20way_mammalian=0.109;phastCons7way_vertebrate=0.013;phastCons20way_mammalian=0.180;SiPhy_29way_logOdds=8.720;GDI_full_10282015=.;dpsi_max_tissue=1.0492;dpsi_zscore=1.549;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0281;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0185;gnomAD_exome_ASJ=0.0612;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0250;gnomAD_exome_NFE=0.0360;gnomAD_exome_OTH=0.0368;gnomAD_exome_SAS=0.0275;gnomAD_genome_ALL=0.0221;gnomAD_genome_AFR=0.0070;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0240;gnomAD_genome_NFE=0.0318;gnomAD_genome_OTH=0.0296;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-528.707,0,-789.615:801:437:336:9638:13218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-339.29,0,-627.099:581:328:235:6589:10205 . . . . . . . . . 0/1:-576.211,0,-664.396:745:369:352:10056:11138 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-727.845,0,-878.727:984:496:456:13212:15163 . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34289285 . G T 4950.11 . AB=0.418428;ABP=71.3832;AC=5;AF=0.5;AN=10;AO=495;CIGAR=1X;DP=4257;DPB=1183;DPRA=0;EPP=34.705;EPPR=103.012;GTI=0;LEN=1;MEANALT=3;MQM=33.897;MQMR=35.0165;NS=1;NUMALT=1;ODDS=1361.17;PAIRED=0.957576;PAIREDR=0.942857;PAO=0;PQA=0;PQR=0;PRO=0;QA=12165;QR=18697;RO=665;RPL=344;RPP=166.415;RPPR=283.339;RPR=151;RUN=1;SAF=237;SAP=4.94488;SAR=258;SF=0,1;SRF=336;SRP=3.1703;SRR=329;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.G1888T:p.V630F,FHOD3:NM_025135:exon15:c.G1939T:p.V647F,FHOD3:NM_001281740:exon18:c.G2464T:p.V822F;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0166;esp6500siv2_ea=0.0236;esp6500siv2_all=0.0166;esp6500siv2_ea=0.0236;1000g2015aug_all=0.00579073;avsnp147=rs61735998;Kaviar_AF=0.0141137;Kaviar_AC=2182;Kaviar_AN=154602;ExAC_ALL=0.0135;ExAC_AFR=0.0037;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0.0244;ExAC_NFE=0.0200;ExAC_OTH=0.01;ExAC_SAS=0.0044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.773;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.18;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=2.17;FATHMM_pred=T;PROVEAN_score=-1.48;PROVEAN_pred=N;VEST3_score=0.104;CADD_raw=4.122;CADD_phred=23.8;DANN_score=0.992;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.016;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=1.65;phyloP7way_vertebrate=0.045;phyloP20way_mammalian=0.130;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=4.403;GDI_full_10282015=.;dpsi_max_tissue=-0.8196;dpsi_zscore=-1.358;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0140;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0260;gnomAD_exome_NFE=0.0220;gnomAD_exome_OTH=0.0133;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0156;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0252;gnomAD_genome_NFE=0.0223;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-624.66,0,-1145.96:1183:665:495:12165:18697 . . . . 0/1:-517.203,0,-783.144:874:464:380:9651:13325 . . . . . . . . . . . . . . . 0/1:-336.703,0,-440.476:580:297:264:6482:8119 . . . 0/1:-543.795,0,-915.609:974:534:412:10203:14886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-594.696,0,-663.095:646:319:320:9162:9942:319,320 . . . . . . . . chr18 34289364 . G A 2539.00 . AB=0.441417;ABP=13.9505;AC=42;AF=0.5;AN=80;AO=162;CIGAR=1X;DP=17277;DPB=367;DPRA=0;EPP=4.9405;EPPR=6.63779;GTI=0;LEN=1;MEANALT=3;MQM=34.642;MQMR=34.1676;NS=1;NUMALT=1;ODDS=443.111;PAIRED=0.95679;PAIREDR=0.901734;PAO=0;PQA=0;PQR=0;PRO=0;QA=4097;QR=5133;RO=173;RPL=121;RPP=88.7969;RPPR=85.3631;RPR=41;RUN=1;SAF=34;SAP=121.449;SAR=128;SF=0,1;SRF=32;SRP=152.139;SRR=141;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.1329;esp6500siv2_ea=0.1782;esp6500siv2_all=0.1329;esp6500siv2_ea=0.1782;1000g2015aug_all=0.0760783;avsnp147=rs11661275;Kaviar_AF=0.12721;Kaviar_AC=19667;Kaviar_AN=154602;ExAC_ALL=0.1364;ExAC_AFR=0.0362;ExAC_AMR=0.0711;ExAC_EAS=0;ExAC_FIN=0.2039;ExAC_NFE=0.1804;ExAC_OTH=0.1733;ExAC_SAS=0.1068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2843;dpsi_zscore=0.868;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1314;gnomAD_exome_AFR=0.0341;gnomAD_exome_AMR=0.0753;gnomAD_exome_ASJ=0.1421;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1936;gnomAD_exome_NFE=0.1801;gnomAD_exome_OTH=0.1395;gnomAD_exome_SAS=0.0921;gnomAD_genome_ALL=0.1298;gnomAD_genome_AFR=0.0462;gnomAD_genome_AMR=0.0883;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2010;gnomAD_genome_NFE=0.1765;gnomAD_genome_OTH=0.1538;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-220.419,0,-303.02:367:173:162:4097:5133 . . . 0/1:-259,0,-292.26:419:188:197:5075:5346 . . . 0/1:-182.809,0,-394.685:389:218:145:3678:6402 . . . 0/1:-226.401,0,-296.785:380:177:163:4113:5115 . . 0/1:-348.84,0,-502.399:566:291:238:6195:8442 0/1:-127.235,0,-221.926:279:141:109:2688:4042 0/1:-612.07,0,-707.98:896:404:428:10722:12026 . . . . . 0/1:-281.053,0,-498.057:520:278:204:5325:8098 . 0/1:-179.388,0,-194.794:298:134:138:3532:3736 . 1/1:-703.222,-91.5933,0:452:14:383:9307:341 . . . 0/1:-276.436,0,-442.008:497:239:218:5462:7245 . . 0/1:-306.029,0,-354.432:418:191:193:5211:5698 . . 0/1:-216.423,0,-298.958:382:189:165:4110:5352 . . . 0/1:-160.172,0,-370.262:377:199:140:3371:5807 . . 0/1:-270.384,0,-407.744:484:229:211:5330:6719 . 0/1:-250.199,0,-399.391:447:234:183:4741:6685 . 0/1:-282.311,0,-216.193:367:142:191:4764:4052 0/1:-318.486,0,-414.327:515:245:238:5872:7250 . . . . . . 0/1:-315.842,0,-391.303:485:228:225:5638:6598 . . 0/1:-317.521,0,-433.736:535:254:230:5769:7450 . 0/1:-291.46,0,-508.442:539:289:213:5619:8550 . 0/1:-127.287,0,-212.4:258:134:105:2738:3931 . . . 0/1:-235.817,0,-394.697:437:227:175:4352:6464 . . 0/1:-223.559,0,-342.727:411:195:173:4197:5744 . . . . . 0/1:-352.773,0,-411.867:516:238:236:6044:7055 . . 0/1:-103.561,0,-281.106:270:147:94:2184:4541 1/1:-736.267,-87.4456,0:465:19:382:9549:394 . . . 0/1:-248.184,0,-318.424:412:199:186:4537:5849 . 0/1:-171.4,0,-242.448:317:142:147:3479:4252 0/1:-279.604,0,-419.336:501:244:203:5113:6895 . . . . 0/1:-300.845,0,-423.04:514:249:223:5559:7421 0/1:-296.212,0,-408.848:516:252:226:5467:7089 . . 0/1:-360.458,0,-495.53:462:240:200:5731:7516:240,200 0/1:-316.173,0,-377.435:400:190:184:5041:5715:190,184 . 0/1:-225.547,0,-272.783:283:135:131:3635:4124:135,131 0/1:-233.795,0,-444.138:370:207:149:3930:6377:207,149 . . 0/1:-271.233,0,-372.523:381:189:170:4410:5570:189,170 . . 0/1:-306.519,0,-425.631:411:207:182:5060:6254:207,182 . 0/1:-327.05,0,-353.029:384:182:180:4984:5396:182,180 . . 0/1:-279.229,0,-357.894:357:181:162:4637:5415:181,162 . . . . chr18 34297806 . G A 7221.31 . AB=0.441546;ABP=33.7277;AC=1;AF=0.5;AN=2;AO=457;CIGAR=1X;DP=1035;DPB=1035;DPRA=0;EPP=3.58524;EPPR=11.0491;GTI=0;LEN=1;MEANALT=3;MQM=35.5514;MQMR=36.6581;NS=1;NUMALT=1;ODDS=1662.77;PAIRED=0.908096;PAIREDR=0.912249;PAO=0;PQA=0;PQR=0;PRO=0;QA=12959;QR=16582;RO=547;RPL=284;RPP=61.5545;RPPR=79.7105;RPR=173;RUN=1;SAF=246;SAP=8.83099;SAR=211;SF=0;SRF=272;SRP=3.04603;SRR=275;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon15:c.G1969A:p.A657T,FHOD3:NM_025135:exon16:c.G2020A:p.A674T,FHOD3:NM_001281740:exon19:c.G2545A:p.A849T;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs757717851;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.785e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.555e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.444;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_pred=T;PROVEAN_score=0.07;PROVEAN_pred=N;VEST3_score=0.033;CADD_raw=-0.286;CADD_phred=0.714;DANN_score=0.817;fathmm-MKL_coding_score=0.086;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.028;MetaSVM_pred=T;MetaLR_score=0.022;MetaLR_pred=T;integrated_fitCons_score=0.626;integrated_confidence_value=0;GERP++_RS=-4.55;phyloP7way_vertebrate=-0.716;phyloP20way_mammalian=-1.568;phastCons7way_vertebrate=0.022;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=1.825;GDI_full_10282015=.;dpsi_max_tissue=-0.3486;dpsi_zscore=-0.920;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.828e-05;gnomAD_exome_AFR=6.684e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.977e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-738.306,0,-1039.46:1035:547:457:12959:16582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34297819 . ATGCAGGT AT 3303.12 . AB=0.396378;ABP=95.7151;AC=1;AF=0.5;AN=2;AO=394;CIGAR=1M6D1M;DP=994;DPB=720;DPRA=0;EPP=15.7085;EPPR=90.0437;GTI=0;LEN=6;MEANALT=68;MQM=25.1523;MQMR=36.8951;NS=1;NUMALT=1;ODDS=760.571;PAIRED=0.954315;PAIREDR=0.90625;PAO=12;PQA=306;PQR=1343;PRO=53;QA=8930;QR=13989;RO=448;RPL=268;RPP=114.141;RPPR=167.112;RPR=126;RUN=1;SAF=185;SAP=6.18484;SAR=209;SF=0;SRF=209;SRP=7.37263;SRR=239;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=FHOD3:NM_001281739:exon15:c.1984_1989del:p.662_663del,FHOD3:NM_025135:exon16:c.2035_2040del:p.679_680del,FHOD3:NM_001281740:exon19:c.2560_2565del:p.854_855del;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-351.736,0,-954.502:994:448:394:8930:13989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34297907 . G A 4393.22 . AB=0.472656;ABP=6.33537;AC=1;AF=0.5;AN=2;AO=242;CIGAR=1X;DP=512;DPB=512;DPRA=0;EPP=3.04619;EPPR=11.1301;GTI=0;LEN=1;MEANALT=3;MQM=39.0868;MQMR=38.4708;NS=1;NUMALT=1;ODDS=1011.58;PAIRED=0.971074;PAIREDR=0.937743;PAO=0;PQA=0;PQR=0;PRO=0;QA=6992;QR=7738;RO=257;RPL=137;RPP=12.1987;RPPR=3.22153;RPR=105;RUN=1;SAF=127;SAP=4.30242;SAR=115;SF=1;SRF=132;SRP=3.42432;SRR=125;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon15:c.G2070A:p.P690P,FHOD3:NM_025135:exon16:c.G2121A:p.P707P,FHOD3:NM_001281740:exon19:c.G2646A:p.P882P;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762278662;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.269e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0681;dpsi_zscore=-0.340;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.959e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-447.788,0,-501.132:512:257:242:6992:7738:257,242 . . . . . . . . . . . . chr18 34298542 . G A 8342.80 . AB=0.447761;ABP=36.3602;AC=2;AF=0.5;AN=4;AO=630;CIGAR=1X;DP=2281;DPB=1407;DPRA=0;EPP=172.881;EPPR=256.638;GTI=0;LEN=1;MEANALT=3;MQM=36.8762;MQMR=38.8479;NS=1;NUMALT=1;ODDS=2292.97;PAIRED=0.92381;PAIREDR=0.953425;PAO=0;PQA=0;PQR=0;PRO=0;QA=17374;QR=21551;RO=730;RPL=358;RPP=28.5027;RPPR=11.6843;RPR=272;RUN=1;SAF=390;SAP=80.5629;SAR=240;SF=0;SRF=441;SRP=71.7359;SRR=289;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon15:c.G2705A:p.R902Q,FHOD3:NM_025135:exon16:c.G2756A:p.R919Q,FHOD3:NM_001281740:exon19:c.G3281A:p.R1094Q;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00379393;avsnp147=rs78740177;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;ExAC_ALL=0.0025;ExAC_AFR=0.0124;ExAC_AMR=0.0034;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0077;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.169;SIFT_pred=T;Polyphen2_HDIV_score=0.829;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.56;MutationAssessor_pred=N;FATHMM_score=2.28;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.356;CADD_raw=3.308;CADD_phred=22.9;DANN_score=1.000;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.026;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.46;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=15.686;GDI_full_10282015=.;dpsi_max_tissue=-0.0507;dpsi_zscore=-0.268;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0129;gnomAD_exome_AMR=0.0043;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0047;gnomAD_genome_AFR=0.0130;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1033.28,0,-1415.55:1407:730:630:17374:21551 . . . . . . . . . . . . . . . 0/1:-697.915,0,-768.248:874:426:425:11437:12453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34298574 . C T 5368.07 . AB=0.449718;ABP=22.4456;AC=1;AF=0.5;AN=2;AO=398;CIGAR=1X;DP=885;DPB=885;DPRA=0;EPP=208.351;EPPR=101.35;GTI=0;LEN=1;MEANALT=3;MQM=37.2864;MQMR=37.877;NS=1;NUMALT=1;ODDS=1236.04;PAIRED=0.922111;PAIREDR=0.927107;PAO=0;PQA=0;PQR=0;PRO=0;QA=9872;QR=12795;RO=439;RPL=278;RPP=139.213;RPPR=187.259;RPR=120;RUN=1;SAF=228;SAP=21.3642;SAR=170;SF=0;SRF=253;SRP=25.2147;SRR=186;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon15:c.C2737T:p.R913C,FHOD3:NM_025135:exon16:c.C2788T:p.R930C,FHOD3:NM_001281740:exon19:c.C3313T:p.R1105C;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;1000g2015aug_all=0.000599042;avsnp147=rs190397321;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=7.418e-05;ExAC_AFR=0.0005;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.16;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.894;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=1.42;FATHMM_pred=T;PROVEAN_score=-2.5;PROVEAN_pred=D;VEST3_score=0.457;CADD_raw=3.840;CADD_phred=23.4;DANN_score=0.999;fathmm-MKL_coding_score=0.739;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.874;MetaSVM_pred=T;MetaLR_score=0.151;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.46;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.686;GDI_full_10282015=.;dpsi_max_tissue=-0.0276;dpsi_zscore=-0.151;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.527e-05;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.79e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-582.177,0,-818.974:885:439:398:9872:12795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr18 34310668 . C T 10719.58 . AB=0.52894;ABP=11.1799;AC=66;AF=0.5;AN=110;AO=594;CIGAR=1X;DP=50274;DPB=1123;DPRA=0;EPP=74.6616;EPPR=43.7915;GTI=0;LEN=1;MEANALT=3;MQM=38.6027;MQMR=39.491;NS=1;NUMALT=1;ODDS=2212.93;PAIRED=0.96633;PAIREDR=0.982036;PAO=0;PQA=0;PQR=0;PRO=0;QA=16903;QR=15301;RO=501;RPL=310;RPP=5.48154;RPPR=3.22268;RPR=284;RUN=1;SAF=243;SAP=45.6501;SAR=351;SF=0,1;SRF=205;SRP=38.9024;SRR=296;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon16:c.C2901T:p.N967N,FHOD3:NM_025135:exon17:c.C2952T:p.N984N,FHOD3:NM_001281740:exon20:c.C3477T:p.N1159N;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.2905;esp6500siv2_ea=0.3427;esp6500siv2_all=0.2905;esp6500siv2_ea=0.3427;1000g2015aug_all=0.319489;avsnp147=rs3744903;Kaviar_AF=0.33768;Kaviar_AC=52206;Kaviar_AN=154602;ExAC_ALL=0.3420;ExAC_AFR=0.1838;ExAC_AMR=0.5016;ExAC_EAS=0.3005;ExAC_FIN=0.2770;ExAC_NFE=0.3239;ExAC_OTH=0.3756;ExAC_SAS=0.4489;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2136;dpsi_zscore=-0.713;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3510;gnomAD_exome_AFR=0.1815;gnomAD_exome_AMR=0.4927;gnomAD_exome_ASJ=0.3068;gnomAD_exome_EAS=0.2959;gnomAD_exome_FIN=0.2802;gnomAD_exome_NFE=0.3299;gnomAD_exome_OTH=0.3583;gnomAD_exome_SAS=0.4522;gnomAD_genome_ALL=0.2858;gnomAD_genome_AFR=0.1773;gnomAD_genome_AMR=0.4785;gnomAD_genome_ASJ=0.2781;gnomAD_genome_EAS=0.3035;gnomAD_genome_FIN=0.2723;gnomAD_genome_NFE=0.3368;gnomAD_genome_OTH=0.3289;Whole_Blood=Whole_Blood::0.33288::-0.170279;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1106.36,0,-978.46:1123:501:594:16903:15301 0/1:-692.136,0,-1045.18:920:506:387:11304:15456 . 0/1:-788.32,0,-845.774:909:451:425:12388:12994 1/1:-2639.24,-295.405,0:1146:16:1091:31301:427 0/1:-719.755,0,-813.327:853:422:412:11465:12610 0/1:-996.933,0,-873.442:1020:463:530:15268:13878 . . . . 0/1:-805.886,0,-817.412:882:416:439:12576:12594 . . . . . 0/1:-881.648,0,-812.534:930:423:479:13623:12712 . . . 1/1:-1291.23,-160.018,0:586:5:556:15378:132 . 0/1:-861.337,0,-941.288:969:474:468:13523:14438 . 0/1:-862.121,0,-804.346:920:431:455:13252:12600 . 0/1:-613.349,0,-612.176:694:325:350:9858:9573 0/1:-618.364,0,-606.217:685:333:334:9589:9721 1/1:-1756.74,-206.627,0:767:9:733:20959:195 . 1/1:-2581.8,-255.097,0:1115:30:1055:31104:844 . . 0/1:-833.444,0,-1045.8:1012:521:464:13202:15750 . . . . . . . . . 0/1:-814.118,0,-948.448:978:492:464:13157:14581 0/1:-839.984,0,-893.13:926:452:441:13070:13605 1/1:-1208.84,-137.849,0:514:5:492:14206:145 . . 0/1:-968.504,0,-955.161:1063:495:546:15360:14842 . 0/1:-983.206,0,-1132.42:1134:575:534:15609:17196 0/1:-978.071,0,-1039.33:1090:534:528:15209:15913 0/1:-511.089,0,-659.99:651:342:293:8446:10266 0/1:-642.245,0,-691.831:701:348:334:9950:10497 0/1:-958.764,0,-883.531:1021:475:523:14908:14085 . . 0/1:-742.028,0,-719.804:820:383:417:11632:11410 0/1:-461.708,0,-538.07:554:280:263:7511:8355 . 0/1:-697.482,0,-764.971:773:383:376:10869:11619 0/1:-557.473,0,-685.199:713:356:339:9180:10575 . 0/1:-821.18,0,-880.484:941:456:452:12992:13526 . 0/1:-795.089,0,-931.73:968:475:451:12694:14261 0/1:-714.77,0,-689.605:780:371:387:11096:10723 1/1:-2176.59,-236.436,0:962:19:920:26257:541 0/1:-844.759,0,-737.117:862:387:453:12959:11609 0/1:-1087.29,0,-1225.21:1192:606:565:16724:18565 . . . 0/1:-756.282,0,-979.788:976:507:435:12246:14878 . 0/1:-1110.55,0,-960.987:1145:522:596:17141:15305 0/1:-564.853,0,-519.022:596:270:305:8677:8141 . . 0/1:-987.001,0,-1001.26:1108:539:538:15332:15762 . . . 0/1:-761.973,0,-708.815:794:367:411:11653:11035 . . 0/1:-473.486,0,-463.692:505:236:254:7200:7158 0/1:-723.61,0,-873.665:868:448:401:11489:13371 0/1:-1189.32,0,-1283.86:1345:660:648:18579:19703 1/1:-1844.39,-219.204,0:790:8:762:21762:188 . . . . 0/1:-911.299,0,-999.552:927:473:445:13777:14656:473,445 0/1:-1080.67,0,-1292.95:1121:590:514:16383:18677:590,514 . . . 1/1:-3127.52,-327.947,0:1212:11:1179:36526:344:11,1179 1/1:-2649.63,-277.375,0:1026:12:1002:31072:322:12,1002 . 0/1:-1102.92,0,-1076.02:1045:501:522:16383:15881:501,522 1/1:-2108.2,-208.169,0:857:16:823:25147:503:16,823 . 0/1:-846.863,0,-840.333:798:386:399:12420:12381:386,399 . . . . 0/1:-1229.69,0,-1181.17:1180:568:585:18246:17715:568,585 1/1:-2718.6,-281.868,0:1046:11:1026:31907:344:11,1026 0/1:-1005.35,0,-1002.05:974:480:480:14910:14916:480,480 0/1:-761.497,0,-863.14:787:403:374:11552:12680:403,374 chr18 34324091 . G A 14080.67 . AB=0.506608;ABP=3.52686;AC=61;AF=0.5;AN=104;AO=690;CIGAR=1X;DP=64102;DPB=1362;DPRA=0;EPP=22.157;EPPR=8.37196;GTI=0;LEN=1;MEANALT=3;MQM=35.3493;MQMR=36.8997;NS=1;NUMALT=1;ODDS=2759.01;PAIRED=0.882609;PAIREDR=0.921296;PAO=0;PQA=0;PQR=0;PRO=0;QA=21255;QR=19870;RO=648;RPL=311;RPP=17.5623;RPPR=28.9607;RPR=379;RUN=1;SAF=335;SAP=4.26912;SAR=355;SF=0,1;SRF=300;SRP=10.7311;SRR=348;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon19:c.G3400A:p.V1134I,FHOD3:NM_025135:exon20:c.G3451A:p.V1151I,FHOD3:NM_001281740:exon23:c.G3976A:p.V1326I;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.3555;esp6500siv2_ea=0.3263;esp6500siv2_all=0.3555;esp6500siv2_ea=0.3263;1000g2015aug_all=0.376198;avsnp147=rs2303510;Kaviar_AF=0.336212;Kaviar_AC=51979;Kaviar_AN=154602;ExAC_ALL=0.3415;ExAC_AFR=0.4148;ExAC_AMR=0.4085;ExAC_EAS=0.3013;ExAC_FIN=0.2648;ExAC_NFE=0.3054;ExAC_OTH=0.3620;ExAC_SAS=0.4450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.147;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.622;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.73;MutationAssessor_pred=N;FATHMM_score=2.36;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_pred=N;VEST3_score=0.107;CADD_raw=3.145;CADD_phred=22.6;DANN_score=0.998;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.803;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=17.505;GDI_full_10282015=.;dpsi_max_tissue=1.7487;dpsi_zscore=1.882;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM131211#"Cardiomyopathy_hypertrophic_association_with";gnomAD_exome_ALL=0.3421;gnomAD_exome_AFR=0.4189;gnomAD_exome_AMR=0.4014;gnomAD_exome_ASJ=0.2872;gnomAD_exome_EAS=0.2966;gnomAD_exome_FIN=0.2708;gnomAD_exome_NFE=0.3112;gnomAD_exome_OTH=0.3386;gnomAD_exome_SAS=0.4468;gnomAD_genome_ALL=0.3346;gnomAD_genome_AFR=0.4000;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.3079;gnomAD_genome_FIN=0.2638;gnomAD_genome_NFE=0.3166;gnomAD_genome_OTH=0.3112;Whole_Blood=Whole_Blood::0.352304::-0.16943;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1277.07,0,-1210.59:1362:648:690:21255:19870 . . 0/1:-1158.67,0,-1306.52:1314:669:624:19021:20794 0/1:-1297.86,0,-1716.38:1575:843:706:21631:26381 0/1:-791.351,0,-1181.38:1029:563:450:13600:17745 0/1:-1476.86,0,-1261.88:1419:654:737:22916:20186 . . . . 0/1:-1066.12,0,-875.26:1026:463:543:16878:14516 . . . . . 0/1:-1125.27,0,-1231.91:1203:599:581:17988:19024 . . . 1/1:-1899.06,-217.321,0:789:7:771:23553:204 . 0/1:-1288.3,0,-1434.25:1414:714:676:21009:22698 . 0/1:-1125.91,0,-1349.08:1293:663:601:18637:20942 . 0/1:-847.448,0,-984.156:986:495:467:14474:15379 0/1:-794.577,0,-896.972:870:444:415:12744:13856 1/1:-2405.56,-269.819,0:988:12:962:29933:338 . 1/1:-3139.58,-335.056,0:1313:21:1265:39185:608 . . 0/1:-1233.47,0,-1471.07:1414:722:665:20338:22898 . . . . . . . . . 0/1:-1176.29,0,-1173.62:1235:593:616:18766:18608 0/1:-1108.47,0,-1454.08:1323:706:595:18455:22319 1/1:-1638.76,-182.93,0:689:8:661:20263:209 . . 0/1:-1274.45,0,-1449.52:1414:714:675:20801:22551 . 0/1:-1404.61,0,-1406.37:1434:697:723:22217:21896 0/1:-1476.95,0,-1320.15:1460:672:761:23523:21010 0/1:-768.77,0,-1038.42:977:520:435:13109:16259 0/1:-1004.21,0,-762.472:908:398:500:15633:12566 0/1:-1213.22,0,-1535.82:1436:761:649:19962:23736 . . 0/1:-1089.43,0,-1531.51:1404:757:612:18835:23609 0/1:-720.523,0,-770.408:823:416:395:12078:12778 . 0/1:-961.743,0,-1206.95:1129:585:523:16024:18490 . . 0/1:-1237.41,0,-1403.57:1374:692:659:20607:21786 . 0/1:-956.297,0,-1401.14:1213:679:513:15862:21185 0/1:-1015.59,0,-966.917:1066:496:552:16563:15709 1/1:-2897.11,-324.101,0:1229:15:1192:36528:504 0/1:-838.267,0,-1312.02:1132:636:473:14447:20026 0/1:-1445.2,0,-1772.9:1618:855:741:23161:27276 . . . 0/1:-1345.08,0,-1534.43:1505:759:724:22040:24150 . 0/1:-1206.28,0,-1481.89:1396:733:640:19778:22946 0/1:-687.696,0,-959.561:868:467:380:11800:14607 . . . . . . 0/1:-1055.86,0,-1102.13:1126:556:553:16877:17517 . . 0/1:-577.761,0,-839.545:753:411:333:9944:12749 0/1:-957.011,0,-1165.35:1101:566:516:15816:17928 0/1:-1713.53,0,-1646.11:1723:812:885:27126:25842 1/1:-2661.25,-312.749,0:1110:5:1079:32913:154 . . . . 0/1:-1554.75,0,-1526.55:1442:718:714:23327:22710:718,714 0/1:-1542.77,0,-1400.85:1367:650:702:22895:21078:650,702 . . . 0/1:-1687.61,0,-1700.11:1591:797:785:25252:25117:797,785 1/1:-3419.49,-337.068,0:1265:18:1238:40111:491:18,1238 . 0/1:-1405.77,0,-1460.62:1321:667:645:21012:21427:667,645 1/1:-3461.83,-351.975,0:1270:12:1248:40601:307:12,1248 . 0/1:-1252.24,0,-1169.16:1151:556:585:18673:17583:556,585 . . . . 0/1:-1481.78,0,-1632.01:1483:769:703:22455:24228:769,703 1/1:-3350.67,-344.934,0:1231:10:1212:39333:272:10,1212 0/1:-1229.46,0,-1464.13:1252:667:582:18737:21166:667,582 0/1:-1431.55,0,-1343.54:1288:634:651:21381:20089:634,651 chr19 16589950 . C T 11256.70 . AB=0.480966;ABP=7.30873;AC=1;AF=0.5;AN=2;AO=657;CIGAR=1X;DP=1366;DPB=1366;DPRA=0;EPP=82.4161;EPPR=94.8909;GTI=0;LEN=1;MEANALT=3;MQM=37.2314;MQMR=38.0341;NS=1;NUMALT=1;ODDS=2591.95;PAIRED=0.940639;PAIREDR=0.937778;PAO=0;PQA=0;PQR=0;PRO=0;QA=19086;QR=19737;RO=675;RPL=216;RPP=170.333;RPPR=151.716;RPR=441;RUN=1;SAF=385;SAP=45.2135;SAR=272;SF=0;SRF=385;SRP=32.0437;SRR=290;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon9:c.G1147A:p.E383K;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs368434498;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.096;SIFT_pred=T;Polyphen2_HDIV_score=0.734;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.257;Polyphen2_HVAR_pred=B;LRT_score=0.556;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.87;FATHMM_pred=T;PROVEAN_score=-1.93;PROVEAN_pred=N;VEST3_score=0.43;CADD_raw=3.769;CADD_phred=23.4;DANN_score=0.998;fathmm-MKL_coding_score=0.731;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.051;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.88;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.351;phastCons20way_mammalian=0.101;SiPhy_29way_logOdds=13.904;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.121e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.79e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-1163.19,0,-1252.68:1366:675:657:19086:19737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 16590094 . A G 5311.75 . AB=0.452471;ABP=18.4913;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X;DP=789;DPB=789;DPRA=0;EPP=10.4614;EPPR=3.05832;GTI=0;LEN=1;MEANALT=3;MQM=35.2241;MQMR=33.9582;NS=1;NUMALT=1;ODDS=1223.08;PAIRED=0.932773;PAIREDR=0.855037;PAO=0;PQA=0;PQR=0;PRO=0;QA=9756;QR=12279;RO=407;RPL=209;RPP=25.6435;RPPR=3.01564;RPR=148;RUN=1;SAF=133;SAP=53.3799;SAR=224;SF=0;SRF=154;SRP=55.3017;SRR=253;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0003;1000g2015aug_all=0.00299521;avsnp147=rs144370982;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0066;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=6.057e-05;CLNALLELEID=243312;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0069;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0065;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.373e-05;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0081;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.684e-05;gnomAD_genome_OTH=0.0021;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-547.64,0,-711.362:789:407:357:9756:12279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 16591462 . GCG GCA 20432.70 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=810;CIGAR=2M1X;DP=888;DPB=894.667;DPRA=0;EPP=15.4065;EPPR=3.0103;GTI=0;LEN=1;MEANALT=16;MQM=38.3049;MQMR=33;NS=1;NUMALT=1;ODDS=1071.52;PAIRED=0.934568;PAIREDR=0.875;PAO=12;PQA=313.5;PQR=113.5;PRO=5;QA=24515;QR=240;RO=8;RPL=388;RPP=6.10934;RPPR=4.09604;RPR=422;RUN=1;SAF=485;SAP=71.6396;SAR=325;SF=1;SRF=3;SRP=4.09604;SRR=5;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain\x3bstopgain;AAChange.refGene=CALR3:NM_145046:exon8:c.972delC:p.Y324X\x3bCALR3:NM_145046:exon8:c.972delC:p.Y324X;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2054.49,-233.91,0:888:8:810:24515:240:8,810 . . . . . . . . . . . . . . . . . chr19 16591463 . CG CA,AG 15489.42 . AB=0;ABP=0;AC=20,0;AF=0;AN=22;AO=48;CIGAR=1X;DP=8157;DPB=745;DPRA=0;EPP=75.3927;EPPR=5.47047;GTI=0;LEN=1;MEANALT=2;MQM=27.2292;MQMR=38.1012;NS=1;NUMALT=1;ODDS=759.12;PAIRED=0.979167;PAIREDR=0.945087;PAO=0;PQA=0;PQR=0;PRO=0;QA=914;QR=20767;RO=692;RPL=42;RPP=61.6401;RPPR=6.63779;RPR=6;RUN=1;SAF=46;SAP=90.593;SAR=2;SF=1;SRF=403;SRP=43.7913;SRR=289;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain\x3bstopgain;AAChange.refGene=CALR3:NM_145046:exon8:c.972delC:p.Y324X\x3bCALR3:NM_145046:exon8:c.972delC:p.Y324X;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon8:c.G973T:p.A325S;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.44;MutationAssessor_pred=M;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-2.74;PROVEAN_pred=D;VEST3_score=0.639;CADD_raw=4.167;CADD_phred=23.8;DANN_score=0.996;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.259;MetaSVM_pred=T;MetaLR_score=0.368;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.25;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.911;phastCons7way_vertebrate=0.946;phastCons20way_mammalian=0.946;SiPhy_29way_logOdds=17.808;GDI_full_10282015=.;dpsi_max_tissue=-2.9284;dpsi_zscore=-2.138;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-1676.76:745:692:.,48:.,914:20767:692,48 . 1/1:-1701.23,-181.832,0,.,.,.:754:12:698,.:20589,.:393:12,698 . 1/1:-1910.03,-210.259,0,.,.,.:829:11:767,.:23142,.:325:11,767 1/1:-1354.63,-151.606,0,.,.,.:597:7:550,.:16365,.:186:7,550 1/1:-2105.93,-247.157,0,.,.,.:896:2:838,.:25290,.:72:2,838 1/1:-1397.68,-165.654,0,.,.,.:601:3:562,.:16762,.:73:3,562 1/1:-1587.22,-186.082,0,.,.,.:700:5:640,.:19070,.:135:5,640 1/1:-1679.26,-172.284,0,.,.,.:723:13:672,.:20356,.:396:13,672 . 1/1:-1776.07,-210.58,0,.,.,.:770:2:716,.:21236,.:70:2,716 1/1:-2075.69,-237.24,0,.,.,.:870:4:819,.:24741,.:129:4,819 1/1:-1561.45,-183.859,0,.,.,.:672:2:627,.:18811,.:62:2,627 . . chr19 16591464 . G A 14405.40 . AB=0;ABP=0;AC=156;AF=1;AN=196;AO=1120;CIGAR=1X;DP=89342;DPB=1156;DPRA=0;EPP=3.13438;EPPR=6.91895;GTI=0;LEN=1;MEANALT=3;MQM=35.7232;MQMR=34;NS=1;NUMALT=1;ODDS=1518.09;PAIRED=0.921429;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=31409;QR=114;RO=5;RPL=571;RPP=3.94869;RPPR=6.91895;RPR=549;RUN=1;SAF=735;SAP=240.515;SAR=385;SF=0,1;SRF=5;SRP=13.8677;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon8:c.C972T:p.Y324Y;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.6539;esp6500siv2_ea=0.7043;esp6500siv2_all=0.6539;esp6500siv2_ea=0.7043;1000g2015aug_all=0.650559;avsnp147=rs9305079;Kaviar_AF=0.69243;Kaviar_AC=107051;Kaviar_AN=154602;ExAC_ALL=0.6984;ExAC_AFR=0.5479;ExAC_AMR=0.7731;ExAC_EAS=0.6365;ExAC_FIN=0.6176;ExAC_NFE=0.7109;ExAC_OTH=0.7148;ExAC_SAS=0.7541;CLNALLELEID=487993;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9434;dpsi_zscore=1.487;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7015;gnomAD_exome_AFR=0.5448;gnomAD_exome_AMR=0.7633;gnomAD_exome_ASJ=0.8167;gnomAD_exome_EAS=0.6337;gnomAD_exome_FIN=0.6147;gnomAD_exome_NFE=0.7065;gnomAD_exome_OTH=0.7240;gnomAD_exome_SAS=0.7535;gnomAD_genome_ALL=0.6492;gnomAD_genome_AFR=0.5520;gnomAD_genome_AMR=0.7315;gnomAD_genome_ASJ=0.8344;gnomAD_genome_EAS=0.6286;gnomAD_genome_FIN=0.6125;gnomAD_genome_NFE=0.7044;gnomAD_genome_OTH=0.7070;Whole_Blood=Whole_Blood::0.331978::-0.103932;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2532.86,-328.694,0:1156:5:1120:31409:114 1/1:-2147.53,-278.237,0:976:4:942:26784:74 . 1/1:-1958.21,-228.789,0:935:19:889:24887:562 1/1:-2292.33,-305.873,0:1054:3:1022:28800:42 0/1:-651.461,0,-651.78:809:381:402:11149:11010 0/1:-755.961,0,-857.609:957:472:458:12586:14009 1/1:-1732.64,-230.884,0:795:2:770:21383:28 0/1:-817.245,0,-784.813:944:441:483:13607:13198 1/1:-1890.14,-242.961,0:876:7:842:23371:173 1/1:-1921.98,-248.663,0:877:4:846:23933:100 0/1:-628.572,0,-623.559:743:340:372:10516:10337 1/1:-1672.5,-226.661,0:804:6:774:21299:102 1/1:-1785.22,-227.397,0:823:7:788:22443:142 1/1:-2710.73,-343.981,0:1223:7:1181:33704:155 0/1:-624.015,0,-682.47:800:388:384:10539:11364 0/1:-1451.4,0,-1280.68:1647:749:848:24175:21830 1/1:-1999.33,-259.328,0:904:2:873:24568:46 1/1:-1437.48,-186.26,0:672:7:650:18047:151 0/1:-631.111,0,-450.054:662:269:364:10295:7859 0/1:-826.26,0,-862.132:1028:481:505:14025:14260 1/1:-1202.36,-158.274,0:605:9:578:15640:222 1/1:-2257.25,-296.353,0:1017:2:994:27849:46 0/1:-810.539,0,-867.844:1020:490:485:13551:14225 1/1:-1625.38,-227.961,0:794:3:773:21180:64 0/1:-770.702,0,-622.417:828:355:433:12429:10602 1/1:-1892.8,-239.3,0:878:8:845:23466:205 0/1:-588.865,0,-501.877:701:308:365:9909:8916 1/1:-1612.56,-210.436,0:730:7:716:19579:123 0/1:-721.378,0,-694.178:878:399:442:12195:11539 1/1:-2626.51,-345.731,0:1205:7:1173:32772:120 1/1:-2277.34,-299.577,0:1037:2:1003:28297:35 0/1:-872.553,0,-782.866:1004:447:506:14230:13411 1/1:-2195.38,-281.268,0:1006:8:970:27108:185 0/1:-797.432,0,-713.958:954:422:487:13357:12317 0/1:-829.248,0,-841.794:1020:480:500:14186:14058 1/1:-2442.22,-319.94,0:1109:5:1083:30368:106 0/1:-868.248,0,-672.975:973:411:522:14275:12068 0/1:-496.33,0,-421.375:556:241:295:8147:7051 1/1:-2488.48,-319.212,0:1133:5:1095:30588:146 1/1:-1848.18,-235.432,0:834:4:804:22933:113 1/1:-2028.35,-245.961,0:929:10:895:25216:305 1/1:-2123.96,-271.622,0:961:7:927:25943:116 1/1:-2778.64,-347.585,0:1240:8:1201:33839:203 1/1:-2170.5,-268.345,0:1011:12:971:27401:340 0/1:-727.599,0,-816.23:901:437:429:12050:13090 1/1:-1331.34,-170.411,0:608:5:585:16335:88 0/1:-590.928,0,-746.934:836:437:364:10360:12328 1/1:-2496.74,-318.131,0:1117:7:1085:30899:120 1/1:-2372.91,-301.53,0:1043:4:1009:29225:56 1/1:-1923.51,-255.165,0:910:8:876:24410:152 0/1:-898.715,0,-1089.37:1156:560:552:15383:17054 1/1:-1913.08,-243.704,0:849:5:823:23348:70 0/1:-612.345,0,-559.774:730:325:379:10265:9645 1/1:-1581.83,-210.344,0:727:2:705:19572:28 1/1:-2348.14,-303.675,0:1064:6:1041:29121:150 1/1:-1347.02,-180.738,0:642:6:615:17035:84 1/1:-1647.64,-216.546,0:753:4:728:20482:56 1/1:-1768.34,-228.663,0:821:8:794:22044:178 . 1/1:-2595.87,-327.388,0:1153:7:1116:31640:152 . 0/1:-669.273,0,-556.032:780:341:401:11208:10001 1/1:-2701.45,-339.182,0:1202:6:1166:33106:159 0/1:-711.053,0,-780.922:891:427:422:11905:12589 1/1:-1624.94,-214.188,0:763:4:731:20478:81 1/1:-2159.59,-282.138,0:981:7:959:26712:98 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1/1:-2954.9,-376.587,0:1353:8:1306:36759:227 1/1:-1601.76,-212.906,0:760:4:730:20079:91 1/1:-3061.1,-401.755,0:1404:4:1366:38160:122 1/1:-1951.53,-233.555,0:931:17:882:24742:476 0/1:-821.176,0,-902.887:1056:505:506:14067:14883 . 1/1:-1563.16,-178.145,0:636:4:624:19040:125:4,624 0/1:-712.182,0,-699.419:749:362:376:11332:10910:362,376 . 0/1:-257.394,0,-438.799:393:224:161:4620:6625:224,161 1/1:-1810.6,-203.437,0:742:8:720:21735:178:8,720 1/1:-2134.49,-246.749,0:878:9:856:25746:164:9,856 . 0/1:-752.435,0,-738.968:805:379:399:11905:11558:379,399 . . . . . . 0/1:-599.883,0,-772.485:761:387:348:9849:11869:387,348 . . . . 0/1:-514.69,0,-599.736:584:297:278:8106:9185:297,278 chr19 16593359 . C T 13515.87 . AB=0.47851;ABP=10.01;AC=2;AF=0.5;AN=4;AO=835;CIGAR=1X;DP=2947;DPB=1745;DPRA=0;EPP=5.84232;EPPR=7.85358;GTI=0;LEN=1;MEANALT=3;MQM=35.0635;MQMR=35.8329;NS=1;NUMALT=1;ODDS=3260.89;PAIRED=0.930539;PAIREDR=0.922811;PAO=0;PQA=0;PQR=0;PRO=0;QA=24702;QR=26717;RO=868;RPL=327;RPP=88.2074;RPPR=166.961;RPR=508;RUN=1;SAF=294;SAP=161.668;SAR=541;SF=0,1;SRF=334;SRP=103.078;SRR=534;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon7:c.G820A:p.V274I;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.0208;esp6500siv2_ea=0.0059;esp6500siv2_all=0.0208;esp6500siv2_ea=0.0059;1000g2015aug_all=0.0421326;avsnp147=rs12459238;Kaviar_AF=0.027781;Kaviar_AC=4295;Kaviar_AN=154602;ExAC_ALL=0.0301;ExAC_AFR=0.0515;ExAC_AMR=0.2145;ExAC_EAS=0.0229;ExAC_FIN=0.0030;ExAC_NFE=0.0048;ExAC_OTH=0.0143;ExAC_SAS=0.0052;CLNALLELEID=190007;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.225;SIFT_pred=T;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.112;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.16;MutationAssessor_pred=N;FATHMM_score=0.77;FATHMM_pred=T;PROVEAN_score=-0.87;PROVEAN_pred=N;VEST3_score=0.019;CADD_raw=0.011;CADD_phred=2.695;DANN_score=0.753;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.092;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-2.96;phyloP7way_vertebrate=-0.771;phyloP20way_mammalian=-0.713;phastCons7way_vertebrate=0.632;phastCons20way_mammalian=0.018;SiPhy_29way_logOdds=11.743;GDI_full_10282015=.;dpsi_max_tissue=0.8928;dpsi_zscore=1.454;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0345;gnomAD_exome_AFR=0.0506;gnomAD_exome_AMR=0.1902;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0.0244;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0044;gnomAD_exome_OTH=0.0288;gnomAD_exome_SAS=0.0051;gnomAD_genome_ALL=0.0246;gnomAD_genome_AFR=0.0539;gnomAD_genome_AMR=0.1802;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0297;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0038;gnomAD_genome_OTH=0.0164;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1449.66,0,-1626.2:1745:868:835:24702:26717 . . . . . . . . . . . . . . . . . . . . 0/1:-1069.38,0,-1311.58:1202:639:549:16896:19945:639,549 . . . . chr19 16593415 . G A 20739.26 . AB=0;ABP=0;AC=178;AF=1;AN=218;AO=1502;CIGAR=1X;DP=136232;DPB=1538;DPRA=0;EPP=17.4675;EPPR=8.80089;GTI=0;LEN=1;MEANALT=3;MQM=34.259;MQMR=37.8333;NS=1;NUMALT=1;ODDS=2026.36;PAIRED=0.895473;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=43117;QR=191;RO=6;RPL=1103;RPP=719.533;RPPR=4.45795;RPR=399;RUN=1;SAF=540;SAP=260.47;SAR=962;SF=0,1;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.6683;esp6500siv2_ea=0.7048;esp6500siv2_all=0.6683;esp6500siv2_ea=0.7048;1000g2015aug_all=0.660144;avsnp147=rs8100755;Kaviar_AF=0.693367;Kaviar_AC=107196;Kaviar_AN=154602;ExAC_ALL=0.7023;ExAC_AFR=0.5908;ExAC_AMR=0.7739;ExAC_EAS=0.6365;ExAC_FIN=0.6175;ExAC_NFE=0.7113;ExAC_OTH=0.7159;ExAC_SAS=0.7535;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0459;dpsi_zscore=-1.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7045;gnomAD_exome_AFR=0.5861;gnomAD_exome_AMR=0.7645;gnomAD_exome_ASJ=0.8216;gnomAD_exome_EAS=0.6339;gnomAD_exome_FIN=0.6150;gnomAD_exome_NFE=0.7067;gnomAD_exome_OTH=0.7253;gnomAD_exome_SAS=0.7532;gnomAD_genome_ALL=0.6603;gnomAD_genome_AFR=0.5911;gnomAD_genome_AMR=0.7356;gnomAD_genome_ASJ=0.8377;gnomAD_genome_EAS=0.6281;gnomAD_genome_FIN=0.6131;gnomAD_genome_NFE=0.7043;gnomAD_genome_OTH=0.7041;Whole_Blood=Whole_Blood::0.322493::-0.104152;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-3377.84,-438.13,0:1538:6:1502:43117:191 1/1:-2556.18,-331.117,0:1171:6:1120:32469:102 . 1/1:-2979.41,-359.147,0:1365:18:1313:38647:507 1/1:-3744.9,-482.653,0:1702:7:1643:47826:177 0/1:-834.701,0,-1108.53:1157:599:516:14805:18064 0/1:-1078.72,0,-1142.32:1354:651:650:18565:19577 1/1:-2830.25,-364.302,0:1286:4:1239:35572:140 0/1:-1207.45,0,-1195.88:1447:682:726:20394:20248 1/1:-2541.13,-333.329,0:1213:8:1165:33197:254 1/1:-2826.34,-366.837,0:1277:3:1226:36108:42 0/1:-1040.38,0,-995.091:1224:574:610:17950:17246 1/1:-2080.88,-280.646,0:987:3:948:27202:64 1/1:-2390.96,-318.67,0:1120:5:1078:30822:136 1/1:-4076.44,-527.589,0:1815:1:1761:51033:32 0/1:-693.53,0,-693.471:890:418:424:12369:12472 0/1:-2124.1,0,-2389.8:2612:1284:1240:36033:38851 1/1:-2854.18,-383.501,0:1330:1:1277:36878:14 1/1:-1827.43,-240.082,0:836:1:806:23414:32 0/1:-684.809,0,-810.639:950:479:427:12235:14074 0/1:-1147.13,0,-1149.14:1412:653:707:20057:19676 1/1:-1616.95,-225.165,0:776:2:749:21229:41 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1/1:-3791.9,-473.802,0:1671:5:1613:47489:154 1/1:-3009.11,-381.632,0:1361:7:1315:38312:185 0/1:-1120.22,0,-1159.12:1339:638:660:19150:19379 1/1:-1521.73,-202.12,0:724:3:687:19470:64 0/1:-828.425,0,-884.637:1049:506:510:14651:14891 1/1:-3331.64,-428.641,0:1530:7:1463:41970:204 1/1:-3138.85,-411.398,0:1426:2:1383:39748:63 1/1:-2129.6,-300.005,0:1056:3:1006:28006:42 0/1:-1231.57,0,-1300.5:1490:719:726:20780:21469 1/1:-3249.07,-432.822,0:1516:5:1458:41494:105 0/1:-685.342,0,-662.921:850:386:431:12065:11236 1/1:-2148.76,-278.341,0:961:2:931:27019:28 1/1:-3279.6,-417.422,0:1470:3:1407:41345:104 1/1:-1379.97,-186.676,0:662:3:636:17840:64 1/1:-2257.09,-300.616,0:1042:2:1008:29036:57 1/1:-2810.44,-369.859,0:1301:3:1245:35599:82 . 1/1:-3424.51,-443.179,0:1594:11:1532:43902:286 . 0/1:-652.548,0,-666.605:833:390:416:11708:11622 1/1:-3319.08,-430.156,0:1514:4:1458:42113:113 0/1:-1029.5,0,-1154.16:1285:625:614:17786:18806 1/1:-1589.82,-217.217,0:794:7:759:20982:153 1/1:-3010.75,-395.954,0:1362:3:1329:37870:64 1/1:-2466.59,-319.864,0:1170:9:1109:31590:245 1/1:-3052.38,-405.541,0:1431:6:1377:39335:146 1/1:-2771.6,-371.804,0:1302:4:1254:34996:78 1/1:-3735.28,-470,0:1648:6:1591:46374:146 0/1:-1190.35,0,-1232.22:1442:684:707:20433:20208 0/1:-624.758,0,-585.996:840:376:428:11649:11035 . 0/1:-1182.23,0,-1291.71:1519:736:734:21028:22030 0/1:-1186.32,0,-1171.68:1413:660:699:20252:19896 0/1:-1226.89,0,-1212.71:1453:676:726:20902:20512 0/1:-632.411,0,-683.87:782:368:390:11263:11236 1/1:-1863.88,-237.266,0:870:7:828:23671:182 1/1:-2944.95,-384.973,0:1392:11:1333:38283:291 0/1:-1122.36,0,-1092.2:1393:644:695:19792:19012 1/1:-3025.61,-387.236,0:1428:13:1368:39161:350 1/1:-2524.5,-313.895,0:1180:13:1130:32247:364 1/1:-2605.87,-339.955,0:1229:7:1179:34114:230 0/1:-983.574,0,-957.921:1191:551:596:17090:16437 0/1:-752.973,0,-830.549:929:460:450:13001:13664 0/1:-1090.3,0,-1205.22:1421:707:665:19115:20790 0/1:-569.596,0,-647.084:731:349:355:9805:10503 1/1:-2508.15,-298.509,0:1164:16:1112:31863:503 1/1:-3651.22,-461.823,0:1646:12:1598:46347:306 1/1:-2441.81,-325.141,0:1143:4:1086:31436:56 1/1:-3778.43,-491.409,0:1724:5:1655:47434:110 1/1:-2991.7,-347.199,0:1416:27:1357:38702:854 0/1:-1120.53,0,-1155.78:1460:690:713:20069:20475 . 1/1:-2980.22,-333.902,0:1185:8:1162:35711:231:8,1162 0/1:-1048.96,0,-1129.93:1111:551:537:16464:17171:551,537 1/1:-3067.6,-352.111,0:1210:3:1187:36725:73:3,1187 0/1:-653.782,0,-721.688:700:357:331:10168:11008:357,331 1/1:-2529.15,-288.062,0:1023:5:997:30897:154:5,997 1/1:-3299.83,-372.324,0:1299:6:1274:39347:168:6,1274 1/1:-2835.27,-324.693,0:1142:7:1120:33879:222:7,1120 0/1:-1167.95,0,-1277.02:1240:620:599:18354:19309:620,599 1/1:-2988.58,-329.628,0:1180:7:1157:35684:237:7,1157 1/1:-2751.11,-322.525,0:1109:4:1091:33046:113:4,1091 1/1:-3035.87,-342.346,0:1199:5:1174:36289:154:5,1174 1/1:-1995.55,-228.411,0:804:4:787:23858:109:4,787 1/1:-2773.45,-316.073,0:1115:5:1089:33316:150:5,1089 1/1:-2602.11,-293.902,0:1038:5:1010:31067:132:5,1010 0/1:-1150.09,0,-1155.3:1198:582:584:18053:18058:582,584 1/1:-3110.9,-360.88,0:1223:1:1202:37143:14:1,1202 1/1:-3258.53,-381.509,0:1306:4:1281:39377:78:4,1281 1/1:-2542.89,-275.79,0:1042:10:1009:30973:352:10,1009 . 0/1:-1281.45,0,-1335.47:1331:658:649:20023:20428:658,649 chr19 16593573 . G A 6374.70 . AB=0.459564;ABP=14.0739;AC=31;AF=0.5;AN=62;AO=358;CIGAR=1X;DP=27956;DPB=779;DPRA=0;EPP=38.045;EPPR=30.5756;GTI=0;LEN=1;MEANALT=3;MQM=35.9078;MQMR=37.013;NS=1;NUMALT=1;ODDS=1155.92;PAIRED=0.980447;PAIREDR=0.917098;PAO=0;PQA=0;PQR=0;PRO=0;QA=8915;QR=11252;RO=386;RPL=141;RPP=38.045;RPPR=19.4145;RPR=217;RUN=1;SAF=196;SAP=10.0221;SAR=162;SF=0,1;SRF=256;SRP=92.3219;SRR=130;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon6:c.C702T:p.D234D;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.1698;esp6500siv2_ea=0.1692;esp6500siv2_all=0.1698;esp6500siv2_ea=0.1692;1000g2015aug_all=0.144569;avsnp147=rs10403020;Kaviar_AF=0.146156;Kaviar_AC=22596;Kaviar_AN=154602;ExAC_ALL=0.1491;ExAC_AFR=0.1862;ExAC_AMR=0.0880;ExAC_EAS=0.0914;ExAC_FIN=0.1797;ExAC_NFE=0.1648;ExAC_OTH=0.1230;ExAC_SAS=0.1248;CLNALLELEID=488044;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4608;dpsi_zscore=-1.052;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1407;gnomAD_exome_AFR=0.1797;gnomAD_exome_AMR=0.0947;gnomAD_exome_ASJ=0.0790;gnomAD_exome_EAS=0.0848;gnomAD_exome_FIN=0.1625;gnomAD_exome_NFE=0.1645;gnomAD_exome_OTH=0.1445;gnomAD_exome_SAS=0.1206;gnomAD_genome_ALL=0.1632;gnomAD_genome_AFR=0.1770;gnomAD_genome_AMR=0.1280;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0.0779;gnomAD_genome_FIN=0.1672;gnomAD_genome_NFE=0.1682;gnomAD_genome_OTH=0.1497;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-516.939,0,-699.98:779:386:358:8915:11252 . . 0/1:-413.069,0,-594.949:609:311:278:7221:9147 . . 0/1:-569.592,0,-777.505:853:426:393:9903:12464 0/1:-661.182,0,-931.792:1030:527:454:11492:15089 . 0/1:-724.111,0,-862.355:1005:487:481:12231:14032 . . 0/1:-574.786,0,-777.238:835:422:387:9883:12437 . . . 0/1:-471.715,0,-878.638:853:476:341:8721:13827 0/1:-1333.73,0,-1575.84:1810:874:866:22230:25236 . . 0/1:-459.279,0,-471.009:585:270:299:7726:7772 0/1:-683.119,0,-978.724:1014:524:447:11697:15482 . . . . 0/1:-544.525,0,-858.312:877:466:386:9807:13621 . . . 0/1:-523.994,0,-833.798:830:450:355:9259:13055 . . . . 0/1:-735.977,0,-873.746:1040:503:481:12390:14458 0/1:-772.001,0,-1081.02:1159:592:520:13459:17251 . . 0/1:-408.773,0,-516.215:600:295:285:7260:8536 . . . . . . 0/1:-648.58,0,-781.146:887:434:416:10977:12491 . 0/1:-499.59,0,-689.338:741:375:334:8677:10986 . . . 0/1:-927.4,0,-1080.43:1231:594:596:15405:17573 . . . . . . . 0/1:-467.682,0,-460.175:615:286:302:7795:7973 . 0/1:-536.325,0,-781.78:815:427:367:9369:12404 0/1:-416.402,0,-520.856:611:295:284:7213:8518 . . . . . . . . . 0/1:-407.028,0,-455.86:631:296:299:7533:8274 . 0/1:-712.249,0,-903.104:1045:512:484:12458:14695 0/1:-649.322,0,-861.371:960:484:433:11215:14130 . . . . 0/1:-778.408,0,-990.016:1102:539:516:13290:15766 . . . . . 0/1:-621.392,0,-912.334:971:500:429:10884:14584 . . . . . . 0/1:-631.235,0,-881.495:942:475:427:10973:14146 . . 0/1:-863.654,0,-1075.22:966:502:445:13354:15697:502,445 . 0/1:-569.515,0,-504.748:535:247:278:8468:7746:247,278 . . . . . . . . . . 0/1:-1104.11,0,-1240.37:1177:590:567:16930:18683:590,567 . . . 0/1:-781.303,0,-957.528:848:441:397:11957:13902:441,397 . chr19 16601168 . G A 8554.34 . AB=0.486842;ABP=4.26747;AC=24;AF=0.5;AN=48;AO=407;CIGAR=1X;DP=26029;DPB=836;DPRA=0;EPP=162.691;EPPR=62.2304;GTI=0;LEN=1;MEANALT=3;MQM=39.285;MQMR=39.6845;NS=1;NUMALT=1;ODDS=1724.71;PAIRED=0.980344;PAIREDR=0.958738;PAO=0;PQA=0;PQR=0;PRO=0;QA=12001;QR=12249;RO=412;RPL=159;RPP=45.2713;RPPR=103.383;RPR=248;RUN=1;SAF=250;SAP=49.1554;SAR=157;SF=0,1;SRF=272;SRP=94.8446;SRR=140;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.1296;esp6500siv2_ea=0.1415;esp6500siv2_all=0.1296;esp6500siv2_ea=0.1415;1000g2015aug_all=0.114018;avsnp147=rs3810197;Kaviar_AF=0.121493;Kaviar_AC=18783;Kaviar_AN=154602;ExAC_ALL=0.1221;ExAC_AFR=0.1079;ExAC_AMR=0.0688;ExAC_EAS=0.0947;ExAC_FIN=0.1574;ExAC_NFE=0.1362;ExAC_OTH=0.1068;ExAC_SAS=0.1122;CLNALLELEID=487994;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0711;dpsi_zscore=0.385;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1196;gnomAD_exome_AFR=0.1066;gnomAD_exome_AMR=0.0764;gnomAD_exome_ASJ=0.0670;gnomAD_exome_EAS=0.0909;gnomAD_exome_FIN=0.1540;gnomAD_exome_NFE=0.1389;gnomAD_exome_OTH=0.1188;gnomAD_exome_SAS=0.1117;gnomAD_genome_ALL=0.1325;gnomAD_genome_AFR=0.1094;gnomAD_genome_AMR=0.1146;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0.0872;gnomAD_genome_FIN=0.1583;gnomAD_genome_NFE=0.1474;gnomAD_genome_OTH=0.1319;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-781.44,0,-803.333:836:412:407:12001:12249 . . 0/1:-596.84,0,-517.501:605:280:316:9134:8058 . . 0/1:-736.879,0,-1035.04:950:532:400:11869:15693 0/1:-1149.99,0,-1227.69:1256:649:593:17670:19017 . 0/1:-901.545,0,-1111.55:1078:571:492:14226:16908 . . 0/1:-743.928,0,-1008.71:967:530:424:12138:15355 . . . 0/1:-593.222,0,-721.325:739:393:327:9500:11349 0/1:-1682.39,0,-2405.54:2183:1234:915:27220:36388 . . . 0/1:-899.01,0,-1346.78:1174:671:492:14673:20058 . . . . 0/1:-990.431,0,-1281.31:1185:649:527:15677:19412 . . . 0/1:-634.83,0,-1132.61:943:551:372:10810:16796 . . . . . 0/1:-1336.9,0,-1440.25:1506:755:718:20768:22225 . . 0/1:-676.511,0,-875.157:828:449:365:10866:13333 . . . . . . 0/1:-1153.89,0,-1188.21:1234:622:594:18003:18374 . 0/1:-633.045,0,-968.091:854:477:362:10506:14465 . . . 0/1:-1045.39,0,-1502.37:1334:738:570:16923:22404 . . . . . . . 0/1:-631.378,0,-560.427:668:312:343:9709:8990 . . 0/1:-622.005,0,-662.953:716:362:339:9821:10563 . . . . . . . . . 0/1:-583.902,0,-643.431:777:400:368:9677:10709 . . 0/1:-994.115,0,-1323.99:1246:682:546:16107:20014 . . . . 0/1:-1238.55,0,-1554.22:1475:786:663:19661:23650 . . . . . 0/1:-1012.49,0,-1189.06:1185:615:542:15965:18037 . . . . . . 0/1:-1102.61,0,-1275.48:1267:655:596:17356:19732 . . 0/1:-868.62,0,-1234.61:1023:574:436:13567:17841:574,436 . . . . . . . . . . . . . . . . . . chr19 16601194 . C T 27309.26 . AB=0;ABP=0;AC=178;AF=1;AN=218;AO=1473;CIGAR=1X;DP=149808;DPB=1497;DPRA=0;EPP=3.01177;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=38.5594;MQMR=42;NS=1;NUMALT=1;ODDS=1968.57;PAIRED=0.955193;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=45236;QR=230;RO=8;RPL=600;RPP=112.88;RPPR=7.35324;RPR=873;RUN=1;SAF=900;SAP=160.643;SAR=573;SF=0,1;SRF=4;SRP=3.0103;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon3:c.G381A:p.Q127Q;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.6680;esp6500siv2_ea=0.7038;esp6500siv2_all=0.6680;esp6500siv2_ea=0.7038;1000g2015aug_all=0.658946;avsnp147=rs3810198;Kaviar_AF=0.695373;Kaviar_AC=107506;Kaviar_AN=154602;ExAC_ALL=0.7014;ExAC_AFR=0.5905;ExAC_AMR=0.7727;ExAC_EAS=0.6366;ExAC_FIN=0.6179;ExAC_NFE=0.7102;ExAC_OTH=0.7137;ExAC_SAS=0.7530;CLNALLELEID=487995;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2004;dpsi_zscore=0.724;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7035;gnomAD_exome_AFR=0.5871;gnomAD_exome_AMR=0.7628;gnomAD_exome_ASJ=0.8214;gnomAD_exome_EAS=0.6336;gnomAD_exome_FIN=0.6149;gnomAD_exome_NFE=0.7052;gnomAD_exome_OTH=0.7236;gnomAD_exome_SAS=0.7527;gnomAD_genome_ALL=0.6600;gnomAD_genome_AFR=0.5927;gnomAD_genome_AMR=0.7315;gnomAD_genome_ASJ=0.8377;gnomAD_genome_EAS=0.6276;gnomAD_genome_FIN=0.6123;gnomAD_genome_NFE=0.7030;gnomAD_genome_OTH=0.7055;Whole_Blood=Whole_Blood::0.326558::-0.101898;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-3783.73,-425.38,0:1497:8:1473:45236:230 1/1:-3276.42,-378.751,0:1295:3:1272:38905:64 . 1/1:-3543.11,-369.035,0:1431:19:1394:42490:649 1/1:-5027,-577.29,0:1978:5:1946:59748:114 0/1:-1200.03,0,-974.531:1120:497:601:18323:15597 0/1:-1434.24,0,-1523.35:1489:733:727:22142:23068 1/1:-2911.46,-328.129,0:1156:7:1130:34619:160 0/1:-1371.45,0,-1158.72:1281:585:684:20777:18207 1/1:-3238.89,-367.773,0:1299:6:1274:38843:212 1/1:-3161.95,-362.558,0:1276:6:1246:37764:163 0/1:-1152.48,0,-1043.2:1125:527:577:17699:16187 1/1:-2739.38,-316.367,0:1111:5:1083:32889:125 1/1:-2530.1,-279.396,0:988:6:968:30117:155 1/1:-5267.63,-606.726,0:2049:1:2025:62381:36 0/1:-894.347,0,-847.057:917:430:473:13927:13262 0/1:-2928.37,0,-2315.78:2668:1184:1449:44605:36750 1/1:-3181.18,-359.667,0:1240:4:1219:37780:96 1/1:-2470.64,-291.626,0:1001:2:983:29763:68 0/1:-1094.87,0,-968.809:1032:483:534:16656:14904 0/1:-1527.2,0,-1284.05:1437:645:770:23092:20121 1/1:-1688.45,-178.901,0:700:9:671:20513:293 1/1:-4366.81,-488.637,0:1720:9:1691:51981:261 0/1:-1555.07,0,-1495.01:1523:731:765:23672:22778 1/1:-2649.02,-323.537,0:1111:2:1085:32357:41 0/1:-1530.43,0,-1305.21:1416:643:751:23178:20377 1/1:-3162.47,-355.944,0:1287:10:1255:38229:288 0/1:-1000.26,0,-941.92:1035:482:536:15933:14960 1/1:-2989.31,-337.292,0:1140:1:1130:35211:36 0/1:-1345.09,0,-926.657:1156:487:646:19943:15068 1/1:-3967.22,-445.453,0:1569:8:1546:47326:252 1/1:-4123.88,-468.102,0:1599:2:1574:48829:72 0/1:-1706.52,0,-1718.33:1736:841:863:26315:26298 1/1:-3420.19,-384.951,0:1354:8:1328:40626:194 0/1:-1571.47,0,-1305.56:1448:652:770:23837:20628 0/1:-1864.51,0,-1930.31:1915:949:933:28813:29581 1/1:-3115.24,-345.895,0:1230:7:1209:37240:227 0/1:-1330.67,0,-1321.04:1369:662:685:20737:20160 0/1:-1046.52,0,-855.848:958:430:512:15905:13447 1/1:-4233.88,-471.32,0:1640:5:1612:50153:176 1/1:-3467.48,-390.298,0:1372:6:1342:41204:176 1/1:-3894.34,-442.941,0:1548:7:1512:46292:189 1/1:-3386.89,-362.775,0:1349:13:1309:40525:399 1/1:-4096.34,-461.679,0:1619:7:1592:48952:231 1/1:-3492.69,-398.251,0:1381:4:1361:41438:144 0/1:-1357.01,0,-1440.92:1461:726:711:21141:22411 1/1:-1922.65,-219.366,0:767:3:752:22917:89 0/1:-1075.57,0,-924.282:1003:463:528:16351:14504 1/1:-4317.27,-491.336,0:1702:5:1671:51417:150 1/1:-4195.12,-476.534,0:1635:2:1602:49555:72 1/1:-3011.54,-365.433,0:1277:5:1253:37298:150 0/1:-1730.2,0,-1430.15:1578:709:841:26018:22310 1/1:-4320.09,-493.09,0:1687:2:1657:51051:72 0/1:-892.721,0,-1044.58:998:526:462:14072:16248 1/1:-2923.59,-335.577,0:1142:2:1125:34568:41 1/1:-3962.48,-448.215,0:1545:5:1519:46701:128 1/1:-2058.35,-240.925,0:847:4:830:24909:122 1/1:-2781.61,-319.221,0:1095:2:1077:32958:63 1/1:-3893.65,-448.742,0:1566:5:1537:46396:176 . 1/1:-4572.13,-523.594,0:1837:8:1792:54608:240 . 0/1:-830.808,0,-869.803:881:431:432:13163:13422 1/1:-4368.3,-507.261,0:1733:4:1708:52395:91 0/1:-1560.92,0,-1582.69:1582:773:789:24006:24067 1/1:-1856.32,-223.854,0:770:1:753:22913:36 1/1:-3613.43,-409.735,0:1405:2:1379:42871:68 1/1:-3367.03,-394.675,0:1372:5:1339:40719:145 1/1:-3571.57,-405.276,0:1445:8:1411:42901:249 1/1:-3372.85,-391.777,0:1337:2:1318:40188:63 1/1:-4932.49,-550.097,0:1905:7:1869:58537:169 0/1:-1461.51,0,-1434.02:1476:703:749:22688:21889 0/1:-898.299,0,-730.123:929:412:500:14425:12252 . 0/1:-1781.78,0,-1497.28:1697:755:907:27465:23538 0/1:-1474.99,0,-1499.85:1528:739:766:22886:23290 0/1:-1633,0,-1508.3:1595:748:821:24971:23236 0/1:-972.802,0,-872.898:910:426:475:14595:13499 1/1:-2121.09,-244.696,0:846:3:835:25532:86 1/1:-3694.46,-401.43,0:1485:17:1446:44335:471 0/1:-1860.18,0,-1704.26:1826:864:932:28557:26558 1/1:-4046.26,-453.222,0:1631:9:1584:48543:298 1/1:-3273.51,-340.014,0:1328:20:1287:39554:641 1/1:-3100.44,-350.053,0:1283:11:1246:37439:322 0/1:-1489.82,0,-1189.86:1337:583:733:22439:18579 0/1:-893.861,0,-1006.17:940:478:451:13825:14957 0/1:-1440.45,0,-1513.56:1475:737:721:22148:22978 0/1:-831.642,0,-883.379:855:438:408:12836:13719 1/1:-3092.22,-338.868,0:1244:12:1214:37041:341 1/1:-4230.09,-475.108,0:1665:9:1629:49566:202 1/1:-3187.09,-366.327,0:1272:4:1246:37596:113 1/1:-4519.25,-507.376,0:1755:6:1734:53482:186 1/1:-3914.28,-417.576,0:1588:19:1543:47238:641 0/1:-1475.1,0,-1460.58:1499:730:746:22846:22750 . 1/1:-4177.19,-444.335,0:1542:5:1518:48779:159:5,1518 0/1:-1655.65,0,-1307.77:1380:628:743:24068:19948:628,743 1/1:-4515.96,-484.555,0:1647:3:1631:52685:104:3,1631 0/1:-1073.92,0,-972.6:960:459:489:15866:14613:459,489 1/1:-3470.5,-364.496,0:1298:7:1274:40598:240:7,1274 1/1:-4096.96,-442.772,0:1516:3:1495:47695:93:3,1495 1/1:-3958.61,-418.74,0:1435:5:1422:45888:146:5,1422 0/1:-1698.01,0,-1500.51:1515:704:785:24840:22465:704,785 1/1:-3823.67,-399.328,0:1421:9:1396:44769:283:9,1396 1/1:-3803.06,-374.554,0:1441:22:1409:45295:663:22,1409 1/1:-4376.31,-459.087,0:1604:6:1580:51029:208:6,1580 1/1:-3038.78,-329.02,0:1123:2:1111:35423:68:2,1111 1/1:-3700.93,-392.587,0:1386:9:1370:43539:256:9,1370 1/1:-3402.07,-354.591,0:1261:7:1238:39996:230:7,1238 0/1:-1603.6,0,-1405.71:1433:672:741:23741:21221:672,741 1/1:-3674.26,-382.575,0:1378:10:1360:43241:339:10,1360 1/1:-4063.95,-428.148,0:1490:6:1473:47439:194:6,1473 1/1:-3357.88,-330.611,0:1252:16:1228:39459:532:16,1228 . 0/1:-1628.95,0,-1401.47:1427:662:749:23983:21066:662,749 chr19 16606821 . C T 6075.59 . AB=0.503322;ABP=3.06801;AC=1;AF=0.5;AN=2;AO=303;CIGAR=1X;DP=602;DPB=602;DPRA=0;EPP=5.59743;EPPR=3.13178;GTI=0;LEN=1;MEANALT=3;MQM=39.462;MQMR=38.9336;NS=1;NUMALT=1;ODDS=1270.97;PAIRED=0.933993;PAIREDR=0.944056;PAO=0;PQA=0;PQR=0;PRO=0;QA=9409;QR=8967;RO=286;RPL=98;RPP=85.0604;RPPR=135.303;RPR=205;RUN=1;SAF=128;SAP=18.8413;SAR=175;SF=1;SRF=118;SRP=21.9917;SRR=168;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0028;1000g2015aug_all=0.000798722;avsnp147=rs200779567;Kaviar_AF=0.0017335;Kaviar_AC=268;Kaviar_AN=154602;ExAC_ALL=0.0034;ExAC_AFR=0.0010;ExAC_AMR=0.0028;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0055;ExAC_OTH=0.0029;ExAC_SAS=0.0015;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6860;dpsi_zscore=1.301;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0024;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-625.365,0,-575.15:602:286:303:9409:8967:286,303 . . . . . . chr19 16606881 . G C 7083.55 . AB=0.515084;ABP=4.77902;AC=1;AF=0.5;AN=2;AO=461;CIGAR=1X;DP=895;DPB=895;DPRA=0;EPP=16.2417;EPPR=3.63145;GTI=0;LEN=1;MEANALT=3;MQM=33.0672;MQMR=36;NS=1;NUMALT=1;ODDS=1631.05;PAIRED=0.885033;PAIREDR=0.93617;PAO=0;PQA=0;PQR=0;PRO=0;QA=12903;QR=12402;RO=423;RPL=276;RPP=42.0167;RPPR=83.2213;RPR=185;RUN=1;SAF=183;SAP=45.5212;SAR=278;SF=0;SRF=177;SRP=27.4509;SRR=246;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon1:c.C60G:p.T20T;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs370721650;Kaviar_AF=0.0004463;Kaviar_AC=69;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0049;ExAC_SAS=9.117e-05;CLNALLELEID=403253;CLNDN=Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-726.084,0,-736.975:895:423:461:12903:12402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 35523454 . C T 6288.95 . AB=0.439883;ABP=35.1239;AC=1;AF=0.5;AN=2;AO=450;CIGAR=1X;DP=1023;DPB=1023;DPRA=0;EPP=65.7224;EPPR=8.58768;GTI=0;LEN=1;MEANALT=3;MQM=34.6133;MQMR=34.5478;NS=1;NUMALT=1;ODDS=1448.08;PAIRED=0.888889;PAIREDR=0.898687;PAO=0;PQA=0;PQR=0;PRO=0;QA=12712;QR=16015;RO=533;RPL=90;RPP=354.789;RPPR=194.854;RPR=360;RUN=1;SAF=312;SAP=149.107;SAR=138;SF=0;SRF=345;SRP=103.432;SRR=188;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon2:c.C63T:p.C21C,SCN1B:NM_199037:exon2:c.C63T:p.C21C;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200339565;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=9.066e-05;ExAC_AFR=9.619e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=377372;CLNDN=Brugada_syndrome_5|not_specified;CLNDISDB=MedGen:C2748541,OMIM:612838|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4556;dpsi_zscore=-1.046;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.293e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.883e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-697.146,0,-943.013:1023:533:450:12712:16015 . . . . . . . . . . . . . . . . . . . . . . . . chr19 35524824 . T C 15617.48 . AB=0.506014;ABP=3.37594;AC=105;AF=0.5;AN=166;AO=589;CIGAR=1X;DP=116635;DPB=1164;DPRA=0;EPP=3.63335;EPPR=12.7555;GTI=0;LEN=1;MEANALT=3;MQM=31.3582;MQMR=34.2243;NS=1;NUMALT=1;ODDS=1986.49;PAIRED=0.904924;PAIREDR=0.900935;PAO=0;PQA=0;PQR=0;PRO=0;QA=16410;QR=16105;RO=535;RPL=280;RPP=6.11082;RPPR=3.92354;RPR=309;RUN=1;SAF=285;SAP=4.3412;SAR=304;SF=0,1;SRF=251;SRP=7.43036;SRR=284;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.T629C:p.L210P;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.4214;esp6500siv2_ea=0.3721;esp6500siv2_all=0.4214;esp6500siv2_ea=0.3721;1000g2015aug_all=0.377596;avsnp147=rs55742440;Kaviar_AF=0.295397;Kaviar_AC=45669;Kaviar_AN=154602;ExAC_ALL=0.4262;ExAC_AFR=0.5748;ExAC_AMR=0.4259;ExAC_EAS=0.3529;ExAC_FIN=0.5115;ExAC_NFE=0.4522;ExAC_OTH=0.4477;ExAC_SAS=0.3121;CLNALLELEID=142701;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.75;FATHMM_pred=D;PROVEAN_score=1.83;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=-0.608;CADD_phred=0.120;DANN_score=0.596;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=-1.91;phyloP7way_vertebrate=-0.912;phyloP20way_mammalian=-0.503;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=8.821;GDI_full_10282015=.;dpsi_max_tissue=-0.0207;dpsi_zscore=-0.109;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3685;gnomAD_exome_AFR=0.5300;gnomAD_exome_AMR=0.3167;gnomAD_exome_ASJ=0.4939;gnomAD_exome_EAS=0.2681;gnomAD_exome_FIN=0.4047;gnomAD_exome_NFE=0.3838;gnomAD_exome_OTH=0.4066;gnomAD_exome_SAS=0.2891;gnomAD_genome_ALL=0.4246;gnomAD_genome_AFR=0.5236;gnomAD_genome_AMR=0.3612;gnomAD_genome_ASJ=0.4801;gnomAD_genome_EAS=0.2727;gnomAD_genome_FIN=0.4043;gnomAD_genome_NFE=0.3918;gnomAD_genome_OTH=0.4064;Whole_Blood=Whole_Blood::0.376359::-0.190429;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-871.164,0,-891.346:1164:535:589:16410:16105 0/1:-1102.15,0,-1343.32:1638:816:763:21182:24186 . 0/1:-514.366,0,-712.503:805:408:371:10146:12129 . 1/1:-3163.99,-446.233,0:1628:14:1568:44024:404 1/1:-2213.77,-311.109,0:1144:9:1089:30820:263 0/1:-1166.66,0,-1276.7:1600:755:793:21969:22929 1/1:-2620.34,-341.546,0:1238:12:1190:34629:301 0/1:-1153.19,0,-1048.84:1436:658:726:20691:19814 1/1:-2374.08,-337.111,0:1235:14:1194:32548:346 0/1:-894.902,0,-1007.81:1243:606:590:16592:17994 . 0/1:-820.37,0,-842.008:1149:527:569:15962:15786 1/1:-2289.1,-302.717,0:1118:14:1071:29888:360 0/1:-1426.08,0,-1611.04:1975:947:949:26600:28173 0/1:-600.341,0,-855.948:999:504:445:12325:14951 1/1:-5844.06,-783.277,0:2884:27:2777:77975:779 . . 0/1:-707.728,0,-828.55:1001:488:475:13093:14705 0/1:-1038.11,0,-1040.27:1392:631:709:19887:19050 0/1:-418.054,0,-722.044:777:429:317:8788:12585 0/1:-1255.21,0,-1470.46:1715:827:824:23185:25078 0/1:-1176.12,0,-1346.41:1670:813:800:22595:24135 . . 0/1:-1106.1,0,-994.348:1323:607:672:19457:17898 0/1:-692.809,0,-743.506:1003:478:494:13811:14019 . 0/1:-837.304,0,-954.085:1146:553:563:15976:16568 1/1:-2835.18,-387.1,0:1393:14:1353:38258:296 0/1:-1026.83,0,-1257.38:1505:758:689:19288:22639 0/1:-1156.26,0,-1526.19:1785:909:801:21897:26865 0/1:-845.587,0,-1112.77:1267:652:577:16313:19649 0/1:-1157.19,0,-1059.09:1474:661:764:21754:19723 . 0/1:-693.838,0,-815.02:984:488:465:13263:14342 1/1:-2426.53,-318.473,0:1176:13:1123:32464:358 . . . 1/1:-2700.03,-358.095,0:1307:11:1264:35432:340 1/1:-2396.99,-319.145,0:1187:15:1144:32031:413 . 0/1:-918.459,0,-1255.28:1471:757:664:18148:22533 . 0/1:-508.726,0,-658.164:773:386:368:10072:11555 . 0/1:-1094.86,0,-1422.96:1594:811:728:20724:24617 0/1:-1141.95,0,-1392.9:1666:840:765:21232:24810 . . . . 0/1:-783.626,0,-832.926:1041:497:512:13913:14799 1/1:-2784.59,-378.458,0:1426:18:1370:37934:552 . 0/1:-637.099,0,-861.881:997:507:450:12564:15213 . . . 0/1:-981.566,0,-1218.94:1382:681:654:18032:20548 1/1:-1840.86,-241.233,0:936:16:893:25197:428 0/1:-1189.18,0,-1407.44:1702:855:792:22331:25614 . 0/1:-604.223,0,-637.696:847:406:410:11382:11856 0/1:-839.566,0,-1173.03:1280:663:577:16358:19914 1/1:-2626.39,-353.88,0:1294:11:1247:35723:346 0/1:-885.977,0,-1195.42:1436:723:662:17936:21089 . . 1/1:-2921.58,-363.718,0:1438:23:1367:38933:712 0/1:-508.995,0,-542.787:801:370:391:10240:11176 0/1:-832.944,0,-982.825:1166:576:543:15237:17436 1/1:-3254.59,-451.933,0:1663:18:1585:44130:432 0/1:-1133.84,0,-1446.34:1655:846:742:21107:25354 1/1:-3245.47,-454.862,0:1604:11:1558:43338:311 . . 0/1:-957.014,0,-1147.86:1484:719:713:18563:21013 0/1:-1126.53,0,-1342.97:1591:784:752:21075:23488 0/1:-1221.69,0,-1344.91:1700:786:841:22822:23971 1/1:-2603.69,-351.895,0:1286:10:1224:34248:263 0/1:-954.304,0,-1022.27:1325:651:618:17269:19119 1/1:-2947.42,-413.102,0:1496:13:1442:39948:357 0/1:-624.924,0,-770.938:936:478:430:11928:14145 0/1:-989.517,0,-1159.73:1455:725:668:19018:21250 . 0/1:-834.709,0,-946.355:1187:576:566:15734:16916 0/1:-1248.48,0,-1354.8:1674:808:809:22677:24079 0/1:-928.795,0,-1169.88:1399:685:652:18149:20630 0/1:-1356.2,0,-1570.32:1871:913:901:25305:27757 0/1:-1126.13,0,-1300.41:1586:792:741:21038:23580 1/1:-3148.19,-422.758,0:1599:18:1524:42403:519 . 1/1:-4347.38,-459.519,0:1710:20:1663:51692:586:20,1663 0/1:-1440.29,0,-1888.26:1626:881:729:22517:28108:881,729 1/1:-4593.56,-498.101,0:1823:15:1763:54596:434:15,1763 0/1:-973.531,0,-1231:1108:585:507:15491:18493:585,507 0/1:-1259.69,0,-1609.52:1416:748:650:20013:23946:748,650 . 0/1:-1451.23,0,-1830.01:1616:842:748:22913:27095:842,748 0/1:-1891.72,0,-1919.09:1881:922:926:28782:29327:922,926 0/1:-1545.49,0,-1833.39:1634:848:764:23876:27159:848,764 . 0/1:-1520.29,0,-1984.89:1714:902:782:23781:29185:902,782 0/1:-1163.85,0,-1241.97:1203:597:580:18001:18850:597,580 0/1:-1497.78,0,-1551.42:1504:739:742:22848:23502:739,742 0/1:-1389.69,0,-1684.63:1509:785:704:21618:25001:785,704 1/1:-4305.91,-422.066,0:1732:34:1673:51608:1099:34,1673 . 0/1:-1476.4,0,-1840.33:1653:878:757:23582:27555:878,757 0/1:-1253.99,0,-1619.48:1426:765:642:20183:24324:765,642 0/1:-1357.14,0,-1163.15:1234:560:659:20389:17977:560,659 0/1:-1796,0,-1772.29:1724:838:857:27040:26847:838,857 chr19 35524939 . C A 12125.70 . AB=0;ABP=0;AC=38;AF=1;AN=70;AO=1804;CIGAR=1X;DP=51811;DPB=1978;DPRA=0;EPP=27.9702;EPPR=145.931;GTI=0;LEN=1;MEANALT=3;MQM=33.2772;MQMR=27.8348;NS=1;NUMALT=1;ODDS=1944.44;PAIRED=0.942905;PAIREDR=0.965217;PAO=0;PQA=0;PQR=0;PRO=0;QA=49570;QR=2195;RO=115;RPL=731;RPP=143.8;RPPR=48.3469;RPR=1073;RUN=1;SAF=999;SAP=48.3127;SAR=805;SF=0,1;SRF=92;SRP=92.9093;SRR=23;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.C744A:p.S248R;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.1248;esp6500siv2_ea=0.1455;esp6500siv2_all=0.1248;esp6500siv2_ea=0.1455;1000g2015aug_all=0.127396;avsnp147=rs67701503;Kaviar_AF=0.0493008;Kaviar_AC=7622;Kaviar_AN=154602;ExAC_ALL=0.1473;ExAC_AFR=0.1034;ExAC_AMR=0.1348;ExAC_EAS=0.2047;ExAC_FIN=0.15;ExAC_NFE=0.1818;ExAC_OTH=0.1771;ExAC_SAS=0.1150;CLNALLELEID=142702;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.54;FATHMM_pred=D;PROVEAN_score=-0.04;PROVEAN_pred=N;VEST3_score=0.031;CADD_raw=3.869;CADD_phred=23.5;DANN_score=0.991;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.994;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=1.88;phyloP7way_vertebrate=0.493;phyloP20way_mammalian=0.032;phastCons7way_vertebrate=0.352;phastCons20way_mammalian=0.698;SiPhy_29way_logOdds=7.859;GDI_full_10282015=.;dpsi_max_tissue=0.0199;dpsi_zscore=0.135;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1457;gnomAD_exome_AFR=0.0887;gnomAD_exome_AMR=0.0879;gnomAD_exome_ASJ=0.2564;gnomAD_exome_EAS=0.2125;gnomAD_exome_FIN=0.1833;gnomAD_exome_NFE=0.1515;gnomAD_exome_OTH=0.1589;gnomAD_exome_SAS=0.1141;gnomAD_genome_ALL=0.1505;gnomAD_genome_AFR=0.0912;gnomAD_genome_AMR=0.1053;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.2102;gnomAD_genome_FIN=0.1864;gnomAD_genome_NFE=0.1693;gnomAD_genome_OTH=0.1670;Whole_Blood=Whole_Blood::0.127371::-0.22583;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 1/1:-3673.79,-418.861,0:1978:115:1804:49570:2195 1/1:-2417.34,-272.403,0:1281:86:1168:32324:1513 0/1:-1142.36,0,-1435.77:1630:817:781:21152:23563 . . . . . 0/1:-787.33,0,-972.721:1158:589:543:15001:16945 . . 0/1:-635.841,0,-974.515:1104:587:494:12918:16644 0/1:-2353.9,0,-2703.59:3188:1554:1552:42194:45669 . . 0/1:-722.977,0,-978.222:1081:571:492:13027:16569 0/1:-1212.24,0,-1227.89:1558:734:778:21199:21040 0/1:-458.962,0,-696.213:765:401:348:9049:11716 0/1:-1375.17,0,-1687.33:1921:969:906:24821:27965 0/1:-1289.58,0,-1620.11:1790:906:846:23323:26577 . . . 0/1:-785.832,0,-997.173:1205:618:562:15002:17421 . . 0/1:-1244.21,0,-1588.96:1794:924:831:22810:26610 . . . 0/1:-1052.97,0,-1526.09:1647:866:748:19976:25344 . 0/1:-921.514,0,-1110.63:1248:617:603:16482:18382 0/1:-986.357,0,-1185.31:1375:689:667:17690:20162 . . . . 0/1:-938.385,0,-1143.82:1286:649:608:16732:18933 . . . 0/1:-564.579,0,-854.086:868:465:383:10526:13689 . . . . . . . . . . 0/1:-796.78,0,-927.946:1081:546:510:14081:15568 . . . . 0/1:-681.24,0,-898.813:1049:539:481:12799:15328 . . . 0/1:-1023,0,-1141.92:1380:668:674:18182:19602 1/1:-2508.93,-272.677,0:1426:94:1294:34194:1876 0/1:-1043.93,0,-1441.22:1570:803:725:19599:23578 . . . . . 0/1:-1039.77,0,-1694.27:1780:976:760:20098:28196 . . . . . . . . . 0/1:-919.368,0,-1185.3:1389:705:646:17308:20242 . 0/1:-1051.81,0,-1222.96:1459:718:712:19081:20896 . . . 0/1:-1022.09,0,-1242.71:1438:728:683:18530:20921 . 0/1:-1214.19,0,-1497.6:1747:891:823:22093:25436 0/1:-1145.01,0,-1403.04:1659:814:806:21395:23959 . 0/1:-1672.01,0,-1545.97:1692:806:874:25569:24154:806,874 . . . 0/1:-1159.05,0,-1339.88:1276:647:620:18307:19990:647,620 . 0/1:-1187.73,0,-1462.53:1366:718:629:18810:21887:718,629 . . . . . . . 0/1:-1494.02,0,-1854.79:1730:913:811:24082:27917:913,811 . 0/1:-1399.61,0,-1676.67:1590:830:752:22023:25198:830,752 0/1:-1007.18,0,-1550.01:1302:727:566:16635:22521:727,566 . . chr19 35524944 . G C 13323.87 . AB=0;ABP=0;AC=38;AF=1;AN=70;AO=1900;CIGAR=1X;DP=51965;DPB=1989;DPRA=0;EPP=39.2213;EPPR=57.1301;GTI=0;LEN=1;MEANALT=3;MQM=33.1626;MQMR=28.6154;NS=1;NUMALT=1;ODDS=2302.52;PAIRED=0.944737;PAIREDR=0.846154;PAO=0;PQA=0;PQR=0;PRO=0;QA=52775;QR=1111;RO=52;RPL=814;RPP=87.5651;RPPR=27.0635;RPR=1086;RUN=1;SAF=1065;SAP=63.4687;SAR=835;SF=0,1;SRF=20;SRP=9.02361;SRR=32;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G749C:p.R250T;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.1164;esp6500siv2_ea=0.1454;esp6500siv2_all=0.1164;esp6500siv2_ea=0.1454;1000g2015aug_all=0.119209;avsnp147=rs67486287;Kaviar_AF=0.0480912;Kaviar_AC=7435;Kaviar_AN=154602;ExAC_ALL=0.1427;ExAC_AFR=0.0759;ExAC_AMR=0.135;ExAC_EAS=0.2053;ExAC_FIN=0.15;ExAC_NFE=0.1828;ExAC_OTH=0.1789;ExAC_SAS=0.1095;CLNALLELEID=45417;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.218;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.6;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_pred=N;VEST3_score=0.044;CADD_raw=1.238;CADD_phred=11.94;DANN_score=0.931;fathmm-MKL_coding_score=0.096;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.015;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=1.84;phyloP7way_vertebrate=-0.155;phyloP20way_mammalian=0.147;phastCons7way_vertebrate=0.057;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=5.129;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Epilepsy,_idiopathic#21703448;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM115448#"Epilepsy_idiopathic";gnomAD_exome_ALL=0.1433;gnomAD_exome_AFR=0.0619;gnomAD_exome_AMR=0.0866;gnomAD_exome_ASJ=0.2561;gnomAD_exome_EAS=0.2125;gnomAD_exome_FIN=0.1833;gnomAD_exome_NFE=0.1515;gnomAD_exome_OTH=0.1590;gnomAD_exome_SAS=0.1091;gnomAD_genome_ALL=0.1431;gnomAD_genome_AFR=0.0662;gnomAD_genome_AMR=0.1038;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.2106;gnomAD_genome_FIN=0.1856;gnomAD_genome_NFE=0.1690;gnomAD_genome_OTH=0.1640;Whole_Blood=Whole_Blood::0.126016::-0.227413;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 1/1:-4012.57,-501.525,0:1989:52:1900:52775:1111 1/1:-2694.62,-328.788,0:1286:33:1234:35303:723 0/1:-1277.84,0,-1397.28:1639:779:825:22845:23212 . . . . . 0/1:-877.966,0,-965.402:1173:572:571:16103:16980 . . 0/1:-696.161,0,-995.078:1101:567:503:13692:16866 0/1:-2549.03,0,-2752.47:3190:1538:1600:44764:46255 . . 0/1:-800.041,0,-1021.67:1101:565:517:14033:16999 0/1:-1313.04,0,-1250.79:1582:728:828:22848:21558 0/1:-487.046,0,-726.227:764:399:358:9570:12097 0/1:-1497.02,0,-1722.4:1903:930:935:26289:28648 0/1:-1358.67,0,-1638.06:1787:901:859:24070:27027 . . . 0/1:-858.532,0,-999.711:1202:589:585:15765:17487 . . 0/1:-1430.01,0,-1622.82:1803:893:885:25139:27299 . . . 0/1:-1100.9,0,-1527.47:1645:849:762:20457:25095 . 0/1:-1018.59,0,-1125:1256:608:626:17602:18807 0/1:-1100.45,0,-1222.55:1398:689:679:19222:20803 . . . . 0/1:-1053.88,0,-1170.1:1287:639:630:18144:19335 . . . 0/1:-599.043,0,-830.531:861:450:399:10959:13434 . . . . . . . . . . 0/1:-887.043,0,-888.39:1065:502:540:15093:14982 . . . . 0/1:-790.03,0,-935.342:1080:528:539:14351:16142 . . . 0/1:-1108.79,0,-1158.18:1383:657:697:19449:19816 1/1:-2772.73,-344.854,0:1428:41:1359:36369:1022 0/1:-1189,0,-1425.21:1570:776:768:21408:23590 . . . . . 0/1:-1224.59,0,-1687.79:1795:959:809:22603:28510 . . . . . . . . . 0/1:-972.536,0,-1211.89:1374:691:659:17967:20379 . 0/1:-1177.41,0,-1253.76:1467:705:741:20688:21272 . . . 0/1:-1098.69,0,-1266.88:1424:704:701:19392:21300 . 0/1:-1342.27,0,-1558.19:1758:871:860:23819:26341 0/1:-1269.73,0,-1420.11:1677:794:844:22933:24012 . 0/1:-1781.26,0,-1555.7:1686:789:877:26773:24284:789,877 . . . 0/1:-1290.1,0,-1303.76:1288:624:637:19790:19423:624,637 . 0/1:-1301.98,0,-1468.81:1385:713:653:20189:21825:713,653 . . . . . . . 0/1:-1602.32,0,-1808.64:1720:883:812:25058:27177:883,812 . 0/1:-1495.37,0,-1689.81:1597:821:759:23241:25239:821,759 0/1:-1116.28,0,-1520.38:1301:700:583:17825:22186:700,583 . . chr19 35524964 . G A 10009.80 . AB=0.43661;ABP=52.0138;AC=1;AF=0.5;AN=2;AO=613;CIGAR=1X;DP=1404;DPB=1404;DPRA=0;EPP=5.98943;EPPR=4.53581;GTI=0;LEN=1;MEANALT=3;MQM=35.2936;MQMR=34.0053;NS=1;NUMALT=1;ODDS=2304.83;PAIRED=0.944535;PAIREDR=0.925631;PAO=0;PQA=0;PQR=0;PRO=0;QA=17837;QR=20817;RO=753;RPL=264;RPP=28.6039;RPPR=3.35924;RPR=349;RUN=1;SAF=329;SAP=10.1836;SAR=284;SF=0;SRF=403;SRP=11.1108;SRR=350;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G769A:p.G257R;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0032;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0032;1000g2015aug_all=0.000199681;avsnp147=rs72558028;Kaviar_AF=0.0005498;Kaviar_AC=85;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0005;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0312;ExAC_NFE=0.0035;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=188696;CLNDN=Brugada_syndrome_5|not_specified;CLNDISDB=MedGen:C2748541,OMIM:612838|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.82;FATHMM_pred=D;PROVEAN_score=0.04;PROVEAN_pred=N;VEST3_score=0.074;CADD_raw=-1.373;CADD_phred=0.004;DANN_score=0.220;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.672;MetaSVM_pred=T;MetaLR_score=0.458;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=-2.01;phyloP7way_vertebrate=-1.403;phyloP20way_mammalian=-1.895;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.291;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1111828#"Epilepsy_idiopathic";gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0033;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1015.81,0,-1223.19:1404:753:613:17837:20817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 35524989 . G A 7129.83 . AB=0.467347;ABP=12.0862;AC=1;AF=0.5;AN=2;AO=458;CIGAR=1X;DP=980;DPB=980;DPRA=0;EPP=14.8633;EPPR=3.46458;GTI=0;LEN=1;MEANALT=3;MQM=35.9083;MQMR=36.1653;NS=1;NUMALT=1;ODDS=1641.71;PAIRED=0.943231;PAIREDR=0.930962;PAO=0;PQA=0;PQR=0;PRO=0;QA=12217;QR=14307;RO=478;RPL=264;RPP=26.2422;RPPR=6.08125;RPR=194;RUN=1;SAF=232;SAP=3.18098;SAR=226;SF=0;SRF=250;SRP=5.20903;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G794A:p.R265Q;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.59;FATHMM_pred=D;PROVEAN_score=0.13;PROVEAN_pred=N;VEST3_score=0.045;CADD_raw=2.285;CADD_phred=18.07;DANN_score=0.989;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.772;MetaSVM_pred=T;MetaLR_score=0.391;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=-1.26;phyloP7way_vertebrate=0.150;phyloP20way_mammalian=-0.473;phastCons7way_vertebrate=0.034;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=2.942;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.743e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=4.386e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-724.475,0,-878.759:980:478:458:12217:14307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 35530073 . T C 14090.99 . AB=0.484263;ABP=6.01743;AC=9;AF=0.5;AN=18;AO=677;CIGAR=1X;DP=15727;DPB=1398;DPRA=0;EPP=171.214;EPPR=172.436;GTI=0;LEN=1;MEANALT=3;MQM=35.0074;MQMR=36.2434;NS=1;NUMALT=1;ODDS=2512.52;PAIRED=0.942393;PAIREDR=0.918879;PAO=0;PQA=0;PQR=0;PRO=0;QA=19041;QR=20624;RO=678;RPL=285;RPP=39.7329;RPPR=5.17537;RPR=392;RUN=1;SAF=361;SAP=9.50547;SAR=316;SF=0,1;SRF=366;SRP=12.3496;SRR=312;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon4:c.T501C:p.I167I;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.0237;esp6500siv2_ea=0.0321;esp6500siv2_all=0.0237;esp6500siv2_ea=0.0321;1000g2015aug_all=0.0155751;avsnp147=rs16969930;Kaviar_AF=0.0241459;Kaviar_AC=3733;Kaviar_AN=154602;ExAC_ALL=0.0240;ExAC_AFR=0.0070;ExAC_AMR=0.0093;ExAC_EAS=0;ExAC_FIN=0.0125;ExAC_NFE=0.0311;ExAC_OTH=0.0275;ExAC_SAS=0.0332;CLNALLELEID=135657;CLNDN=Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2737;dpsi_zscore=1.672;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0232;gnomAD_exome_AFR=0.0063;gnomAD_exome_AMR=0.0095;gnomAD_exome_ASJ=0.0323;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0131;gnomAD_exome_NFE=0.0315;gnomAD_exome_OTH=0.0191;gnomAD_exome_SAS=0.0342;gnomAD_genome_ALL=0.0191;gnomAD_genome_AFR=0.0073;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0155;gnomAD_genome_NFE=0.0290;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1120.84,0,-1247.3:1398:678:677:19041:20624 . . . . . . . . 0/1:-968.013,0,-1177.63:1218:615:564:16138:18909 0/1:-1633.35,0,-1797.9:1989:993:947:27214:29458 . . . . . . . . . 0/1:-1668.09,0,-1768.41:2003:955:996:27895:28975 0/1:-1058.43,0,-1563.38:1628:856:713:19425:25878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1593.83,0,-1688.01:1924:922:944:26497:27977 . . . . . . . 0/1:-842.335,0,-980.449:1020:514:488:14011:15793 . . . . . . . . . . . . . . . . . 0/1:-2258.89,0,-2450.79:2287:1141:1115:34226:36389:1141,1115 . . . . . . . . 0/1:-2254.05,0,-2356.04:2260:1115:1109:34112:35258:1115,1109 chr19 35530514 . T G 5668.92 . AB=0.42093;ABP=49.7121;AC=6;AF=0.5;AN=12;AO=362;CIGAR=1X;DP=5912;DPB=860;DPRA=0;EPP=3.87409;EPPR=80.8616;GTI=0;LEN=1;MEANALT=3;MQM=27.8674;MQMR=30.6152;NS=1;NUMALT=1;ODDS=905.497;PAIRED=0.892265;PAIREDR=0.841564;PAO=0;PQA=0;PQR=0;PRO=0;QA=9790;QR=14377;RO=486;RPL=110;RPP=123.965;RPPR=277.813;RPR=252;RUN=1;SAF=217;SAP=34.1067;SAR=145;SF=0,1;SRF=318;SRP=103.541;SRR=168;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.0110;esp6500siv2_ea=0.015;esp6500siv2_all=0.0110;esp6500siv2_ea=0.015;1000g2015aug_all=0.0081869;avsnp147=rs28365107;Kaviar_AF=0.0118692;Kaviar_AC=1835;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0042;ExAC_AMR=0.0055;ExAC_EAS=0;ExAC_FIN=0.0027;ExAC_NFE=0.0144;ExAC_OTH=0.0145;ExAC_SAS=0.0200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0244;dpsi_zscore=-0.132;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0112;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0.0189;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0144;gnomAD_exome_OTH=0.0091;gnomAD_exome_SAS=0.0200;gnomAD_genome_ALL=0.0093;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0155;gnomAD_genome_OTH=0.0062;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-420.493,0,-777.942:860:486:362:9790:14377 . . . . . . . . 0/1:-372.265,0,-616.564:673:369:294:8164:11016 0/1:-708.863,0,-983.583:1135:592:532:14415:17678 . . . . . . . . . 0/1:-726.693,0,-930.34:1112:577:520:14478:17012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-755.774,0,-1342.71:1050:619:428:12938:19446:619,428 . . . . . . . . 0/1:-850.489,0,-1244.63:1082:607:470:14106:18744:607,470 chr19 35530525 . C A 5186.00 . AB=0.39759;ABP=86.1803;AC=6;AF=0.5;AN=12;AO=363;CIGAR=1X;DP=6262;DPB=913;DPRA=0;EPP=4.35625;EPPR=30.1497;GTI=0;LEN=1;MEANALT=3;MQM=27.4573;MQMR=30.8401;NS=1;NUMALT=1;ODDS=827.918;PAIRED=0.881543;PAIREDR=0.83829;PAO=0;PQA=0;PQR=0;PRO=0;QA=9530;QR=16408;RO=538;RPL=126;RPP=76.7147;RPPR=251.252;RPR=237;RUN=1;SAF=215;SAP=29.8636;SAR=148;SF=0,1;SRF=345;SRP=96.2625;SRR=193;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0151;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0151;1000g2015aug_all=0.00798722;avsnp147=rs28365109;Kaviar_AF=0.0119145;Kaviar_AC=1842;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0041;ExAC_AMR=0.0055;ExAC_EAS=0;ExAC_FIN=0.0027;ExAC_NFE=0.0145;ExAC_OTH=0.0144;ExAC_SAS=0.0199;CLNALLELEID=256855;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0356;dpsi_zscore=0.228;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0112;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0.0189;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0145;gnomAD_exome_OTH=0.0093;gnomAD_exome_SAS=0.0200;gnomAD_genome_ALL=0.0093;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0156;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-384.987,0,-910.624:913:538:363:9530:16408 . . . . . . . . 0/1:-315.755,0,-693.477:694:405:281:7184:12350 0/1:-624.566,0,-1202.44:1193:677:508:13239:21116 . . . . . . . . . 0/1:-627.159,0,-1123.63:1173:653:499:13084:19895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-738.578,0,-1493.91:1121:675:445:13007:21675:675,445 . . . . . . . . 0/1:-903.267,0,-1368.65:1168:657:510:15077:20763:657,510 chr19 35530617 . C T 5109.93 . AB=0.473538;ABP=9.56101;AC=1;AF=0.5;AN=2;AO=510;CIGAR=1X;DP=1077;DPB=1077;DPRA=0;EPP=248.259;EPPR=254.359;GTI=0;LEN=1;MEANALT=3;MQM=29.7569;MQMR=30.3644;NS=1;NUMALT=1;ODDS=1176.61;PAIRED=0.9;PAIREDR=0.895879;PAO=0;PQA=0;PQR=0;PRO=0;QA=11728;QR=12746;RO=461;RPL=388;RPP=304.274;RPPR=193.313;RPR=122;RUN=1;SAF=257;SAP=3.07842;SAR=253;SF=0;SRF=218;SRP=5.95427;SRR=243;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000399361;avsnp147=rs28365106;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0003;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0009;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=256856;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4181;dpsi_zscore=1.043;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-576.55,0,-625.237:1077:461:510:11728:12746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 35530641 . G A 5641.65 . AB=0.436364;ABP=37.8328;AC=4;AF=0.5;AN=8;AO=432;CIGAR=1X;DP=3958;DPB=990;DPRA=0;EPP=104.366;EPPR=160.834;GTI=0;LEN=1;MEANALT=3;MQM=31.5301;MQMR=29.8971;NS=1;NUMALT=1;ODDS=1123.02;PAIRED=0.956019;PAIREDR=0.905462;PAO=0;PQA=0;PQR=0;PRO=0;QA=10625;QR=13105;RO=476;RPL=330;RPP=264.311;RPPR=288.13;RPR=102;RUN=1;SAF=189;SAP=17.6677;SAR=243;SF=0,1;SRF=220;SRP=8.92254;SRR=256;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0041;1000g2015aug_all=0.000399361;avsnp147=rs28365108;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;ExAC_ALL=0.0034;ExAC_AFR=9.841e-05;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0052;ExAC_OTH=0.0056;ExAC_SAS=0.0010;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1209;dpsi_zscore=-1.540;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0051;gnomAD_exome_ASJ=0.0387;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0079;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-535.211,0,-679.304:990:476:432:10625:13105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-623.198,0,-613.581:1037:463:494:12000:12963 . . . . 0/1:-647.371,0,-661.663:1101:496:513:12331:13997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-685.635,0,-925.943:830:437:368:11068:13759:437,368 . chr19 46273462 . CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 157.06 . AB=0;ABP=0;AC=10,4,4,14,2;AF=1;AN=36;AO=33;CIGAR=1M18D43M;DP=1972;DPB=63.5806;DPRA=0;EPP=4.65535;EPPR=0;GTI=0;LEN=18;MEANALT=26;MQM=11.3333;MQMR=0;NS=1;NUMALT=1;ODDS=28.2302;PAIRED=1;PAIREDR=0;PAO=28;PQA=827.5;PQR=891.5;PRO=30;QA=293;QR=0;RO=0;RPL=16;RPP=3.0761;RPPR=0;RPR=17;RUN=1;SAF=23;SAP=14.1309;SAR=10;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*239_*216delGCTGCTGCTGCTGCTGCTGCTGCT,NM_001081560:c.*246_*223delGCTGCTGCTGCTGCTGCTGCTGCT,NM_004409:c.*246_*223delGCTGCTGCTGCTGCTGCTGCTGCT,NM_001081563:c.*246_*223delGCTGCTGCTGCTGCTGCTGCTGCT,NM_001288766:c.*391_*368delGCTGCTGCTGCTGCTGCTGCTGCT,NM_001288765:c.*239_*216delGCTGCTGCTGCTGCTGCTGCTGCT,NM_001288764:c.*246_*223delGCTGCTGCTGCTGCTGCTGCTGCT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*242_*216delGCTGCTGCTGCTGCTGCTGCTGCTGCT,NM_001081560:c.*249_*223delGCTGCTGCTGCTGCTGCTGCTGCTGCT,NM_004409:c.*249_*223delGCTGCTGCTGCTGCTGCTGCTGCTGCT,NM_001081563:c.*249_*223delGCTGCTGCTGCTGCTGCTGCTGCTGCT,NM_001288766:c.*394_*368delGCTGCTGCTGCTGCTGCTGCTGCTGCT,NM_001288765:c.*242_*216delGCTGCTGCTGCTGCTGCTGCTGCTGCT,NM_001288764:c.*249_*223delGCTGCTGCTGCTGCTGCTGCTGCTGCT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*233_*216delGCTGCTGCTGCTGCTGCT,NM_001081560:c.*240_*223delGCTGCTGCTGCTGCTGCT,NM_004409:c.*240_*223delGCTGCTGCTGCTGCTGCT,NM_001081563:c.*240_*223delGCTGCTGCTGCTGCTGCT,NM_001288766:c.*385_*368delGCTGCTGCTGCTGCTGCT,NM_001288765:c.*233_*216delGCTGCTGCTGCTGCTGCT,NM_001288764:c.*240_*223delGCTGCTGCTGCTGCTGCT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*236_*216delGCTGCTGCTGCTGCTGCTGCT,NM_001081560:c.*243_*223delGCTGCTGCTGCTGCTGCTGCT,NM_004409:c.*243_*223delGCTGCTGCTGCTGCTGCTGCT,NM_001081563:c.*243_*223delGCTGCTGCTGCTGCTGCTGCT,NM_001288766:c.*388_*368delGCTGCTGCTGCTGCTGCTGCT,NM_001288765:c.*236_*216delGCTGCTGCTGCTGCTGCTGCT,NM_001288764:c.*243_*223delGCTGCTGCTGCTGCTGCTGCT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*215_*216insGCT,NM_001081560:c.*222_*223insGCT,NM_004409:c.*222_*223insGCT,NM_001081563:c.*222_*223insGCT,NM_001288766:c.*367_*368insGCT,NM_001288765:c.*215_*216insGCT,NM_001288764:c.*222_*223insGCT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3/3:-16.1156,.,.,.,.,.,-39.3021,.,.,0,.,.,.,.,.,.,.,.,.,.,.:63:0:.,.,33,.,.:.,.,293,.,.:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-41.1145,-161.94,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:151:0:63,.,.,.,.:758,.,.,.,.:0:0,63 4/4:-57.4111,.,.,.,.,.,.,.,.,.,-182.527,.,.,.,0,.,.,.,.,.,.:171:0:.,.,.,66,.:.,.,.,836,.:0:0,66 2/2:-11.0926,.,.,-85.9956,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:29:0:.,25,.,.,.:.,297,.,.,.:0:0,25 1/1:-16.4865,-71.7828,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:38:0:26,.,.,.,.:374,.,.,.,.:0:0,26 . 3/3:-75.2117,.,.,.,.,.,-202.526,.,.,0,.,.,.,.,.,.,.,.,.,.,.:142:0:.,.,72,.,.:.,.,970,.,.:0:0,72 0/0:0,-88.4838,-7.16268,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:151:10:45,.,.,.,.:498,.,.,.,.:331:10,45 1/1:-41.4792,-105.475,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:77:0:57,.,.,.,.:776,.,.,.,.:0:0,57 4/4:-42.0974,.,.,.,.,.,.,.,.,.,-150.655,.,.,.,0,.,.,.,.,.,.:140:0:.,.,.,48,.:.,.,.,635,.:0:0,48 . 4/4:-57.8632,.,.,.,.,.,.,.,.,.,-170.326,.,.,.,0,.,.,.,.,.,.:135:0:.,.,.,73,.:.,.,.,983,.:0:0,73 4/4:-50.433,.,.,.,.,.,.,.,.,.,-163.134,.,.,.,0,.,.,.,.,.,.:120:0:.,.,.,51,.:.,.,.,697,.:0:0,51 5/5:-25.9637,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-34.1615,.,.,.,.,0:180:22:.,.,.,.,42:.,.,.,.,953:702:22,42 4/4:-40.1668,.,.,.,.,.,.,.,.,.,-180.539,.,.,.,0,.,.,.,.,.,.:147:0:.,.,.,49,.:.,.,.,652,.:0:0,49 4/4:-62.0235,.,.,.,.,.,.,.,.,.,-286.788,.,.,.,0,.,.,.,.,.,.:142:0:.,.,.,67,.:.,.,.,944,.:0:0,67 1/1:-32.0805,-123.111,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:73:1:51,.,.,.,.:605,.,.,.,.:32:1,51 . 2/2:-9.03232,.,.,-68.561,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:33:0:.,27,.,.,.:.,285,.,.,.:0:0,27 4/4:-49.6643,.,.,.,.,.,.,.,.,.,-131.139,.,.,.,0,.,.,.,.,.,.:90:0:.,.,.,58,.:.,.,.,765,.:0:0,58 1/1:-44.8879,-121.386,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:90:0:56,.,.,.,.:721,.,.,.,.:0:0,56 chr19 46273480 . G T 89.31 . AB=0.560976;ABP=5.65844;AC=4;AF=0.5;AN=8;AO=46;CIGAR=1X;DP=374;DPB=82;DPRA=0;EPP=64.1892;EPPR=16.6021;GTI=0;LEN=1;MEANALT=3;MQM=19.6739;MQMR=16.3333;NS=1;NUMALT=1;ODDS=6.24684;PAIRED=0.76087;PAIREDR=0.777778;PAO=0;PQA=0;PQR=0;PRO=0;QA=801;QR=553;RO=27;RPL=46;RPP=102.898;RPPR=32.0437;RPR=0;RUN=1;SAF=41;SAP=64.1892;SAR=5;SF=0;SRF=16;SRP=5.02092;SRR=11;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*259C>A,NM_001081560:c.*266C>A,NM_004409:c.*266C>A,NM_001081563:c.*266C>A,NM_001288766:c.*411C>A,NM_001288765:c.*259C>A,NM_001288764:c.*266C>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs182516357;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-33.1418,0,-8.23611:82:27:46:801:553 0/1:-33.9532,0,-21.6993:101:35:49:979:916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-46.5366,0,-5.72631:106:31:67:1240:802 . . . . . . . . . . . . . . . . . . . . 0/1:-45.9874,0,-5.03952:85:26:51:954:665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273481 . C T 31.55 . AB=0.619048;ABP=13.3506;AC=2;AF=0.5;AN=4;AO=52;CIGAR=1X;DP=177;DPB=84;DPRA=0;EPP=83.8559;EPPR=24.391;GTI=0;LEN=1;MEANALT=3;MQM=18.9423;MQMR=14.0385;NS=1;NUMALT=1;ODDS=5.20376;PAIRED=0.711538;PAIREDR=0.769231;PAO=0;PQA=0;PQR=0;PRO=0;QA=885;QR=604;RO=26;RPL=52;RPP=115.927;RPPR=19.3799;RPR=0;RUN=1;SAF=48;SAP=83.8559;SAR=4;SF=0;SRF=15;SRP=4.34659;SRR=11;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*258G>A,NM_001081560:c.*265G>A,NM_004409:c.*265G>A,NM_001081563:c.*265G>A,NM_001288766:c.*410G>A,NM_001288765:c.*258G>A,NM_001288764:c.*265G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs186113085;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-36.2626,0,-4.31909:84:26:52:885:604 0/1:-41.4124,0,-12.2459:93:28:56:1085:740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273482 . A C 124.77 . AB=0.407609;ABP=16.6528;AC=23;AF=0.5;AN=28;AO=75;CIGAR=1X;DP=1768;DPB=184;DPRA=0;EPP=110.744;EPPR=35.6778;GTI=0;LEN=1;MEANALT=3;MQM=17.4533;MQMR=19.1429;NS=1;NUMALT=1;ODDS=14.1488;PAIRED=0.786667;PAIREDR=0.857143;PAO=0;PQA=0;PQR=0;PRO=0;QA=1298;QR=2255;RO=91;RPL=40;RPP=3.73412;RPPR=159.571;RPR=35;RUN=1;SAF=37;SAP=3.03925;SAR=38;SF=0;SRF=59;SRP=20.4059;SRR=32;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*257T>G,NM_001081560:c.*264T>G,NM_004409:c.*264T>G,NM_001081563:c.*264T>G,NM_001288766:c.*409T>G,NM_001288765:c.*257T>G,NM_001288764:c.*264T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR 0/1:-24.4159,0,-70.2723:184:91:75:1298:2255 . 0/1:-27.7616,0,-89.9863:178:88:69:1239:2342 . . . 0/1:-33.5188,0,-0.105746:97:20:61:1014:579 . . . . . . . . . . . . 1/1:-46.1219,-6.00766,0:85:12:58:979:281 1/1:-50.538,-0.0180206,0:100:22:67:1290:606 . . . . . . 1/1:-29.9198,-0.259605,0:86:23:54:956:536 . . . . . 1/1:-37.5822,-4.87631,0:85:15:59:1037:404 . . . 1/1:-49.0509,-5.44649,0:130:32:84:1422:848 . . . 1/1:-63.0867,-6.75654,0:136:25:94:1633:733 . . . . . . . . 1/1:-54.4384,-1.09018,0:117:23:75:1303:612 . . . . . . . . . . . . . . . . 0/1:-27.8839,0,-112.017:192:102:70:1225:2815 . . . . . . 1/1:-45.3438,-2.24364,0:95:19:63:1178:504 . . . . . . . . . . . 1/1:-31.7811,-1.33,0:75:19:47:772:498 . . . . . 0/1:-29.338,0,-130.211:208:109:84:1487:2923 . . . . . . . . . . . . . . . . . . . . . . . chr19 46273483 . G C 82.72 . AB=0.572917;ABP=7.44372;AC=9;AF=0.5;AN=14;AO=55;CIGAR=1X;DP=670;DPB=96;DPRA=0;EPP=63.0614;EPPR=4.16842;GTI=0;LEN=1;MEANALT=3;MQM=15.3455;MQMR=16.7;NS=1;NUMALT=1;ODDS=0.607546;PAIRED=0.854545;PAIREDR=0.9;PAO=0;PQA=0;PQR=0;PRO=0;QA=1003;QR=795;RO=30;RPL=49;RPP=76.0113;RPPR=44.7026;RPR=6;RUN=1;SAF=41;SAP=31.7922;SAR=14;SF=0;SRF=14;SRP=3.29983;SRR=16;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*256C>G,NM_001081560:c.*263C>G,NM_004409:c.*263C>G,NM_001081563:c.*263C>G,NM_001288766:c.*408C>G,NM_001288765:c.*256C>G,NM_001288764:c.*263C>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs191066362;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-27.7952,0,-12.1722:96:30:55:1003:795 . . . . . . . . . . . . 0/1:-33.0208,0,-1.22757:78:18:54:924:451 0/1:-33.9116,0,-9.53493:89:27:55:1032:696 . . . . . . . . . . . . . . . . 1/1:-46.8031,-4.66639,0:130:30:84:1487:881 . . . . . . . . . . . . 0/1:-37.4387,0,-15.5144:117:36:70:1206:1022 . . . . . . . . . . . . . . 0/1:-34.2174,0,-2.32409:90:22:65:1186:629 . . . . . . . . . . . . . . . . . . . . 1/1:-31.0623,-1.97807,0:70:15:47:784:445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273488 . AGCAGCAGCAG TACAAGGAGCAG,TACAAGGACCCTT 71.73 . AB=0;ABP=0;AC=2,2;AF=1;AN=4;AO=6;CIGAR=2X1M1I2M1X1M;DP=93;DPB=78.8571;DPRA=0;EPP=16.0391;EPPR=18.2106;GTI=0;LEN=8;MEANALT=34;MQM=18.3333;MQMR=36.7143;NS=1;NUMALT=1;ODDS=8.53261;PAIRED=0.833333;PAIREDR=1;PAO=4.5;PQA=110;PQR=64.7;PRO=2.9;QA=157;QR=196;RO=7;RPL=6;RPP=16.0391;RPPR=3.32051;RPR=0;RUN=1;SAF=6;SAP=16.0391;SAR=0;SF=1;SRF=4;SRP=3.32051;SRR=3;TYPE=complex;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*251_*246delinsCCTTGTA,NM_001081560:c.*258_*253delinsCCTTGTA,NM_004409:c.*258_*253delinsCCTTGTA,NM_001081563:c.*258_*253delinsCCTTGTA,NM_001288766:c.*403_*398delinsCCTTGTA,NM_001288765:c.*251_*246delinsCCTTGTA,NM_001288764:c.*258_*253delinsCCTTGTA;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*251_*241delinsAAGGGTCCTTGTA,NM_001081560:c.*258_*248delinsAAGGGTCCTTGTA,NM_004409:c.*258_*248delinsAAGGGTCCTTGTA,NM_001081563:c.*258_*248delinsAAGGGTCCTTGTA,NM_001288766:c.*403_*393delinsAAGGGTCCTTGTA,NM_001288765:c.*251_*241delinsAAGGGTCCTTGTA,NM_001288764:c.*258_*248delinsAAGGGTCCTTGTA;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:.,.,0,.,.,.:62:7:6,.:157,.:196:7,6 . . . . . . 2/2:-11.2425,.,.,-13.2217,.,0:31:2:.,2:.,49:61:2,2 . . . chr19 46273489 . G A,C 60.42 . AB=0;ABP=0;AC=18,1;AF=1;AN=20;AO=28;CIGAR=1X;DP=656;DPB=56;DPRA=0;EPP=63.8115;EPPR=18.2106;GTI=0;LEN=1;MEANALT=3;MQM=10.8214;MQMR=19.1429;NS=1;NUMALT=1;ODDS=11.4501;PAIRED=0.785714;PAIREDR=0.857143;PAO=0;PQA=0;PQR=0;PRO=0;QA=447;QR=105;RO=7;RPL=20;RPP=14.1779;RPPR=10.7656;RPR=8;RUN=1;SAF=20;SAP=14.1779;SAR=8;SF=0;SRF=6;SRP=10.7656;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*250C>T,NM_001081560:c.*257C>T,NM_004409:c.*257C>T,NM_001081563:c.*257C>T,NM_001288766:c.*402C>T,NM_001288765:c.*250C>T,NM_001288764:c.*257C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*250C>G,NM_001081560:c.*257C>G,NM_004409:c.*257C>G,NM_001081563:c.*257C>G,NM_001288766:c.*402C>G,NM_001288765:c.*250C>G,NM_001288764:c.*257C>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 1/1:-12.7651,-3.07433,0,.,.,.:56:7:28,.:447,.:105 0/2:-8.67428,.,.,0,.,-0.627419:53:9:.,19:.,322:204 . . . . . . . . . . . . 1/1:-11.8852,-1.49265,0,.,.,.:52:11:27,.:432,.:253 . . . 1/1:-16.7835,-3.97467,0,.,.,.:73:17:34,.:534,.:367 . . . 1/1:-16.044,-2.2905,0,.,.,.:75:16:35,.:542,.:348 . . . . . . . . 1/1:-18.2475,-0.283895,0,.,.,.:76:15:41,.:628,.:436 . . . . . . . . . . 1/1:-20.5039,-2.80299,0,.,.,.:73:15:37,.:576,.:355 . . . . . . . . . . . . 1/1:-19.3241,-7.2257,0,.,.,.:51:4:25,.:387,.:105 . . . . . . . . . . . 1/1:-14.0893,-1.94142,0,.,.,.:60:14:26,.:391,.:321 . . . 1/1:-20.4803,-2.91185,0,.,.,.:87:18:42,.:658,.:413 . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273492 . G A 25.96 . AB=0.242424;ABP=41.044;AC=1;AF=0.5;AN=2;AO=16;CIGAR=1X;DP=66;DPB=66;DPRA=0;EPP=37.7539;EPPR=44.6459;GTI=0;LEN=1;MEANALT=3;MQM=17.8125;MQMR=11;NS=1;NUMALT=1;ODDS=5.97411;PAIRED=0.8125;PAIREDR=0.826087;PAO=0;PQA=0;PQR=0;PRO=0;QA=247;QR=501;RO=23;RPL=8;RPP=3.0103;RPPR=18.9659;RPR=8;RUN=1;SAF=8;SAP=3.0103;SAR=8;SF=0;SRF=19;SRP=24.253;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*247C>T,NM_001081560:c.*254C>T,NM_004409:c.*254C>T,NM_001081563:c.*254C>T,NM_001288766:c.*399C>T,NM_001288765:c.*247C>T,NM_001288764:c.*254C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.55748,0,-7.66785:66:23:16:247:501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273493 . C G 26.84 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=34;CIGAR=1X;DP=56;DPB=56;DPRA=0;EPP=76.8404;EPPR=39.9253;GTI=0;LEN=1;MEANALT=3;MQM=11.5588;MQMR=11.2353;NS=1;NUMALT=1;ODDS=6.1791;PAIRED=0.794118;PAIREDR=0.882353;PAO=0;PQA=0;PQR=0;PRO=0;QA=516;QR=298;RO=17;RPL=28;RPP=33.9218;RPPR=6.20364;RPR=6;RUN=1;SAF=28;SAP=33.9218;SAR=6;SF=0;SRF=11;SRP=6.20364;SRR=6;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*246G>C,NM_001081560:c.*253G>C,NM_004409:c.*253G>C,NM_001081563:c.*253G>C,NM_001288766:c.*398G>C,NM_001288765:c.*246G>C,NM_001288764:c.*253G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-13.9639,-3.90001,0:56:17:34:516:298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273494 . A C,G 56.47 . AB=0.328125;ABP=19.4321;AC=1,5;AF=0.5;AN=10;AO=21;CIGAR=1X;DP=323;DPB=64;DPRA=0;EPP=15.5221;EPPR=36.0395;GTI=0;LEN=1;MEANALT=3;MQM=14.7143;MQMR=10.7895;NS=1;NUMALT=1;ODDS=17.179;PAIRED=0.952381;PAIREDR=0.842105;PAO=0;PQA=0;PQR=0;PRO=0;QA=391;QR=407;RO=19;RPL=10;RPP=3.1137;RPPR=16.8392;RPR=11;RUN=1;SAF=5;SAP=15.5221;SAR=16;SF=0;SRF=16;SRP=22.325;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*245T>G,NM_001081560:c.*252T>G,NM_004409:c.*252T>G,NM_001081563:c.*252T>G,NM_001288766:c.*397T>G,NM_001288765:c.*245T>G,NM_001288764:c.*252T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*245T>C,NM_001081560:c.*252T>C,NM_004409:c.*252T>C,NM_001081563:c.*252T>C,NM_001288766:c.*397T>C,NM_001288765:c.*245T>C,NM_001288764:c.*252T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=7.716e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=8.042e-05;gnomAD_genome_OTH=0.0012;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-7.78201,0,-4.76749,.,.,.:64:19:21,.:391,.:407 . . . . . . . . . . . . . . . . . . 0/2:-2.04329,.,.,0,.,-4.25895:68:25:.,19:.,296:472 . . . . . . . . . . . . 2/2:-16.8388,.,.,-0.454033,.,0:63:12:.,29:.,464:246 . . . . . . . . . . 0/2:-4.08353,.,.,0,.,-5.70923:68:25:.,17:.,276:434 . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-11.4775,.,.,0,.,-4.05631:60:19:.,23:.,362:347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273495 . G C 39.45 . AB=0;ABP=0;AC=5;AF=1;AN=6;AO=34;CIGAR=1X;DP=163;DPB=65;DPRA=0;EPP=76.8404;EPPR=48.9587;GTI=0;LEN=1;MEANALT=3;MQM=12.2941;MQMR=9.08;NS=1;NUMALT=1;ODDS=6.46256;PAIRED=0.852941;PAIREDR=0.88;PAO=0;PQA=0;PQR=0;PRO=0;QA=535;QR=547;RO=25;RPL=24;RPP=15.5282;RPPR=7.26639;RPR=10;RUN=1;SAF=24;SAP=15.5282;SAR=10;SF=0;SRF=10;SRP=5.18177;SRR=15;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*244C>G,NM_001081560:c.*251C>G,NM_004409:c.*251C>G,NM_001081563:c.*251C>G,NM_001288766:c.*396C>G,NM_001288765:c.*244C>G,NM_001288764:c.*251C>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-8.92166,-0.183185,0:65:25:34:535:547 . . . . . . . . 1/1:-13.9063,-1.63043,0:48:17:27:451:272 . . . . . . . . . . . 0/1:-3.81969,0,-1.89341:50:18:17:263:356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273497 . A C,T 59.14 . AB=0;ABP=0;AC=21,2;AF=1;AN=24;AO=18;CIGAR=1X;DP=652;DPB=57;DPRA=0;EPP=42.0968;EPPR=10.7656;GTI=0;LEN=1;MEANALT=3;MQM=14.5;MQMR=15.2857;NS=1;NUMALT=1;ODDS=3.32919;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=292;QR=111;RO=7;RPL=10;RPP=3.49285;RPPR=3.32051;RPR=8;RUN=1;SAF=10;SAP=3.49285;SAR=8;SF=0;SRF=5;SRP=5.80219;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*242T>G,NM_001081560:c.*249T>G,NM_004409:c.*249T>G,NM_001081563:c.*249T>G,NM_001288766:c.*394T>G,NM_001288765:c.*242T>G,NM_001288764:c.*249T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*242T>A,NM_001081560:c.*249T>A,NM_004409:c.*249T>A,NM_001081563:c.*249T>A,NM_001288766:c.*394T>A,NM_001288765:c.*242T>A,NM_001288764:c.*249T>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 1/1:-9.02135,-0.770862,0,.,.,.:57:7:18,.:292,.:111 1/1:-6.185,-2.41401,0,.,.,.:44:7:19,.:307,.:127 0/1:-7.1728,0,-0.00949793,.,.,.:45:9:21,.:357,.:164 . . . . . . . . . . . . 2/2:-11.7383,.,.,-3.15592,.,0:46:6:.,17:.,259:113 . . . 1/1:-20.1691,-5.4158,0,.,.,.:71:9:33,.:524,.:219 . . . 1/1:-12.1842,-3.21957,0,.,.,.:54:11:29,.:461,.:185 . . . . . . . . 1/1:-15.3683,-1.2717,0,.,.,.:66:11:30,.:484,.:189 . . . 1/1:-9.70564,-1.96034,0,.,.,.:40:4:17,.:260,.:113 . . . . . . 1/1:-9.02493,-1.3407,0,.,.,.:61:15:25,.:425,.:271 . . . 1/1:-5.72362,-0.584231,0,.,.,.:57:13:23,.:340,.:235 . . . . . . . . 1/1:-18.7829,-6.36481,0,.,.,.:44:4:25,.:407,.:56 . . . . . . . . . . . . . . . 1/1:-10.8002,-1.67544,0,.,.,.:67:19:28,.:450,.:333 . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273500 . A C,G 65.82 . AB=0.481481;ABP=3.332;AC=17,8;AF=0.5;AN=28;AO=52;CIGAR=1X;DP=982;DPB=108;DPRA=0;EPP=107.408;EPPR=29.2851;GTI=0;LEN=1;MEANALT=3;MQM=17.0577;MQMR=14.825;NS=1;NUMALT=1;ODDS=8.99852;PAIRED=0.769231;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=824;QR=1018;RO=40;RPL=30;RPP=5.68288;RPPR=34.2795;RPR=22;RUN=1;SAF=29;SAP=4.51363;SAR=23;SF=0;SRF=11;SRP=20.5992;SRR=29;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*239T>G,NM_001081560:c.*246T>G,NM_004409:c.*246T>G,NM_001081563:c.*246T>G,NM_001288766:c.*391T>G,NM_001288765:c.*239T>G,NM_001288764:c.*246T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*239T>C,NM_001081560:c.*246T>C,NM_004409:c.*246T>C,NM_001081563:c.*246T>C,NM_001288766:c.*391T>C,NM_001288765:c.*239T>C,NM_001288764:c.*246T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=4.555e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0014;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-21.8022,0,-9.94712,.,.,.:108:40:52,.:824,.:1018 . . . . . . . . . 1/1:-21.2939,-2.43544,0,.,.,.:63:11:31,.:544,.:230 2/2:-8.72003,.,.,-3.62106,.,0:38:5:.,17:.,285:132 1/1:-8.356,-2.72122,0,.,.,.:42:6:17,.:251,.:126 . . . . . . . . . . . . 2/2:-14.3692,.,.,-1.47319,.,0:49:9:.,20:.,323:197 0/1:-25.0695,0,-36.7269,.,.,.:154:66:67,.:1140,.:1526 . . . . 0/1:-27.8434,0,-14.5288,.,.,.:110:43:53,.:893,.:1009 1/1:-11.8664,-4.43658,0,.,.,.:57:10:21,.:333,.:219 1/1:-9.72954,-1.7289,0,.,.,.:53:6:21,.:336,.:102 . . . . . . . . . . . . . . . . . . . 2/2:-20.6145,.,.,-7.06502,.,0:61:7:.,30:.,480:163 1/1:-8.99874,-0.462037,0,.,.,.:71:7:25,.:381,.:147 . . 1/1:-8.98597,-3.50654,0,.,.,.:61:8:27,.:423,.:187 . . . . . . . . . . . . . . . . . . . . 2/2:-17.4299,.,.,-3.8289,.,0:47:8:.,23:.,365:170 . . . 1/1:-8.69392,-0.0526652,0,.,.,.:68:15:21,.:336,.:283 . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273501 . G C 35.56 . AB=0.4;ABP=13.4334;AC=4;AF=0.5;AN=8;AO=48;CIGAR=1X;DP=393;DPB=120;DPRA=0;EPP=82.8119;EPPR=36.7056;GTI=0;LEN=1;MEANALT=3;MQM=17.4167;MQMR=15.3621;NS=1;NUMALT=1;ODDS=6.61824;PAIRED=0.791667;PAIREDR=0.862069;PAO=0;PQA=0;PQR=0;PRO=0;QA=792;QR=1410;RO=58;RPL=31;RPP=11.8771;RPPR=8.40154;RPR=17;RUN=1;SAF=28;SAP=5.9056;SAR=20;SF=0;SRF=17;SRP=24.5753;SRR=41;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*238C>G,NM_001081560:c.*245C>G,NM_004409:c.*245C>G,NM_001081563:c.*245C>G,NM_001288766:c.*390C>G,NM_001288765:c.*238C>G,NM_001288764:c.*245C>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-19.4481,0,-28.5138:120:58:48:792:1410 . . . . . . . . . . . . . 0/1:-16.824,0,-0.580833:64:16:35:590:333 . . . . . . . . . . . . . . . 0/1:-23.0038,0,-42.7148:153:76:64:1137:1640 . . . . . 0/1:-2.84604,0,-1.36491:56:22:19:307:480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273505 . CAGCA CCCCA 194.06 . AB=0;ABP=0;AC=8;AF=1;AN=8;AO=20;CIGAR=1M2X;DP=239;DPB=34;DPRA=0;EPP=18.6449;EPPR=3.0103;GTI=0;LEN=2;MEANALT=8;MQM=9.15;MQMR=5.5;NS=1;NUMALT=1;ODDS=20.5019;PAIRED=0.8;PAIREDR=1;PAO=3;PQA=85;PQR=0;PRO=0;QA=357;QR=51;RO=2;RPL=0;RPP=46.4397;RPPR=3.0103;RPR=20;RUN=1;SAF=4;SAP=18.6449;SAR=16;SF=0,1;SRF=0;SRP=7.35324;SRR=2;TYPE=mnp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*233_*232delinsGG,NM_001081560:c.*240_*239delinsGG,NM_004409:c.*240_*239delinsGG,NM_001081563:c.*240_*239delinsGG,NM_001288766:c.*385_*384delinsGG,NM_001288765:c.*233_*232delinsGG,NM_001288764:c.*240_*239delinsGG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 1/1:.,.,0:31:2:20:357:51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:.,.,0:68:4:51:868:101 . . . . . . . . . 1/1:-49.0379,-6.78165,0:61:4:28:627:120:4,28 . . . . . . . . . . . 1/1:-48.6863,-5.64047,0:79:3:29:641:96:3,29 . . . chr19 46273506 . AG CC,CG 126.26 . AB=0;ABP=0;AC=14,3;AF=1;AN=18;AO=39;CIGAR=1X;DP=548;DPB=56;DPRA=0;EPP=79.2345;EPPR=3.44459;GTI=0;LEN=1;MEANALT=3;MQM=12.3846;MQMR=16;NS=1;NUMALT=1;ODDS=14.9076;PAIRED=0.948718;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=661;QR=132;RO=5;RPL=5;RPP=49.8362;RPPR=6.91895;RPR=34;RUN=1;SAF=6;SAP=43.6001;SAR=33;SF=0;SRF=2;SRP=3.44459;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3\x3bUTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*233_*232delinsGG,NM_001081560:c.*240_*239delinsGG,NM_004409:c.*240_*239delinsGG,NM_001081563:c.*240_*239delinsGG,NM_001288766:c.*385_*384delinsGG,NM_001288765:c.*233_*232delinsGG,NM_001288764:c.*240_*239delinsGG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*233T>G,NM_001081560:c.*240T>G,NM_004409:c.*240T>G,NM_001081563:c.*240T>G,NM_001288766:c.*385T>G,NM_001288765:c.*233T>G,NM_001288764:c.*240T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs866180213;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . 2/2:.,.,.,.,.,0:56:5:.,39:.,661:132 . . . . . . . . . . . . . 1/1:-22.5178,-6.9059,0,.,.,.:35:1:26,.:421,.:14 . . . . . 0/2:.,.,.,.,.,-30.2227:145:72:.,57:.,1017:1766 . . . . . . . . . . 1/1:-31.5359,-10.4175,0,.,.,.:62:2:41,.:672,.:59 . . 1/1:-41.6656,-10.4888,0,.,.,.:64:3:42,.:745,.:95 . . . . . . . . . . . . . . . . . . . . 1/1:-36.0529,-9.3472,0,.,.,.:46:2:34,.:657,.:42 . . . 1/1:-36.2123,-9.63215,0,.,.,.:63:3:39,.:714,.:70 . . . . . . . . 1/1:-19.2646,-6.32163,0,.,.,.:27:0:21,.:358,.:0 . . . . . 1/1:-22.209,-6.5498,0,.,.,.:50:7:32,.:579,.:187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273507 . G C 32.17 . AB=0.402778;ABP=14.8328;AC=1;AF=0.5;AN=2;AO=58;CIGAR=1X;DP=144;DPB=144;DPRA=0;EPP=69.053;EPPR=36.6819;GTI=0;LEN=1;MEANALT=3;MQM=16.5862;MQMR=15.6329;NS=1;NUMALT=1;ODDS=7.40725;PAIRED=0.913793;PAIREDR=0.974684;PAO=0;PQA=0;PQR=0;PRO=0;QA=1062;QR=2002;RO=79;RPL=24;RPP=6.75422;RPPR=7.6556;RPR=34;RUN=1;SAF=16;SAP=28.3192;SAR=42;SF=0;SRF=23;SRP=32.9436;SRR=56;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DMPK;GeneDetail.refGene=NM_001081562:c.*232C>G,NM_001081560:c.*239C>G,NM_004409:c.*239C>G,NM_001081563:c.*239C>G,NM_001288766:c.*384C>G,NM_001288765:c.*232C>G,NM_001288764:c.*239C>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-20.1662,0,-43.2017:144:79:58:1062:2002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46273824 . C T 4904.29 . AB=0.421053;ABP=55.4685;AC=1;AF=0.5;AN=2;AO=408;CIGAR=1X;DP=969;DPB=969;DPRA=0;EPP=4.7347;EPPR=8.59409;GTI=0;LEN=1;MEANALT=3;MQM=30.8309;MQMR=29.6766;NS=1;NUMALT=1;ODDS=1129.25;PAIRED=0.870098;PAIREDR=0.849206;PAO=0;PQA=0;PQR=0;PRO=0;QA=10580;QR=14394;RO=504;RPL=236;RPP=24.8102;RPPR=18.5208;RPR=172;RUN=1;SAF=193;SAP=5.58626;SAR=215;SF=0;SRF=252;SRP=3.0103;SRR=252;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=DMPK:NM_001288765:exon13:c.G1541A:p.W514X,DMPK:NM_001081562:exon15:c.G1793A:p.W598X;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=1.339;CADD_phred=12.47;DANN_score=0.988;fathmm-MKL_coding_score=0.798;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=4.22;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.760;SiPhy_29way_logOdds=11.974;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-503.027,0,-734.109:969:504:408:10580:14394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46274196 . A C 21.14 . AB=0.350877;ABP=14.02;AC=1;AF=0.5;AN=2;AO=20;CIGAR=1X;DP=57;DPB=57;DPRA=0;EPP=18.6449;EPPR=24.9965;GTI=0;LEN=1;MEANALT=3;MQM=26.85;MQMR=21.1562;NS=1;NUMALT=1;ODDS=4.8602;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=353;QR=889;RO=32;RPL=11;RPP=3.44459;RPPR=4.09604;RPR=9;RUN=1;SAF=15;SAP=13.8677;SAR=5;SF=0;SRF=15;SRP=3.28173;SRR=17;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2901;dpsi_zscore=0.877;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-10.6248,0,-32.486:57:32:20:353:889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46274220 . C T 453.30 . AB=0.419048;ABP=8.98702;AC=1;AF=0.5;AN=2;AO=44;CIGAR=1X;DP=105;DPB=105;DPRA=0;EPP=15.6443;EPPR=11.8771;GTI=0;LEN=1;MEANALT=2;MQM=26.25;MQMR=25.3333;NS=1;NUMALT=1;ODDS=104.377;PAIRED=1;PAIREDR=0.9375;PAO=0;PQA=0;PQR=0;PRO=0;QA=1254;QR=1397;RO=48;RPL=13;RPP=19.0002;RPPR=17.6677;RPR=31;RUN=1;SAF=27;SAP=7.94546;SAR=17;SF=0;SRF=28;SRP=5.9056;SRR=20;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3507;dpsi_zscore=0.960;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.684e-05;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-54.5723,0,-60.3716:105:48:44:1254:1397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46274357 . G A 1762.82 . AB=0.40257;ABP=41.5156;AC=2;AF=0.5;AN=4;AO=188;CIGAR=1X;DP=814;DPB=467;DPRA=0;EPP=4.67356;EPPR=15.0457;GTI=0;LEN=1;MEANALT=3;MQM=30.2447;MQMR=26.1498;NS=1;NUMALT=1;ODDS=395.666;PAIRED=0.829787;PAIREDR=0.842105;PAO=0;PQA=0;PQR=0;PRO=0;QA=4341;QR=7435;RO=247;RPL=112;RPP=17.9796;RPPR=27.7053;RPR=76;RUN=1;SAF=96;SAP=3.19511;SAR=92;SF=0,1;SRF=143;SRP=16.382;SRR=104;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0125;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0125;1000g2015aug_all=0.00299521;avsnp147=rs183029748;Kaviar_AF=0.0034411;Kaviar_AC=532;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0075;ExAC_AMR=0.0085;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0272;ExAC_OTH=0;ExAC_SAS=0.0066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4534;dpsi_zscore=1.083;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0078;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0030;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0112;gnomAD_exome_NFE=0.0143;gnomAD_exome_OTH=0.0070;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0091;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-182.381,0,-337.33:467:247:188:4341:7435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-208.981,0,-408.901:347:196:137:3836:5995:196,137 . . . . . . . chr19 46274357 . G A 1976.23 . AB=0.394813;ABP=36.3584;AC=1;AF=0.5;AN=2;AO=137;CIGAR=1X;DP=347;DPB=347;DPRA=0;EPP=3.02615;EPPR=14.3551;GTI=0;LEN=1;MEANALT=3;MQM=36.5839;MQMR=38.9949;NS=1;NUMALT=1;ODDS=455.044;PAIRED=0.861314;PAIREDR=0.897959;PAO=0;PQA=0;PQR=0;PRO=0;QA=3836;QR=5995;RO=196;RPL=87;RPP=24.7092;RPPR=42.8945;RPR=50;RUN=1;SAF=71;SAP=3.40655;SAR=66;SF=1;SRF=104;SRP=4.60567;SRR=92;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0125;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0125;1000g2015aug_all=0.00299521;avsnp147=rs183029748;Kaviar_AF=0.0034411;Kaviar_AC=532;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0075;ExAC_AMR=0.0085;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0272;ExAC_OTH=0;ExAC_SAS=0.0066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4534;dpsi_zscore=1.083;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0078;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0030;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0112;gnomAD_exome_NFE=0.0143;gnomAD_exome_OTH=0.0070;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0091;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-208.981,0,-408.901:347:196:137:3836:5995:196,137 . . . . . . . chr19 46274624 . G A 3720.20 . AB=0.41816;ABP=51.7037;AC=1;AF=0.5;AN=2;AO=350;CIGAR=1X;DP=837;DPB=837;DPRA=0;EPP=23.8813;EPPR=51.9653;GTI=0;LEN=1;MEANALT=3;MQM=30.1257;MQMR=29.0681;NS=1;NUMALT=1;ODDS=856.607;PAIRED=0.894286;PAIREDR=0.92723;PAO=0;PQA=0;PQR=0;PRO=0;QA=8480;QR=12260;RO=426;RPL=131;RPP=51.0557;RPPR=34.0226;RPR=219;RUN=1;SAF=219;SAP=51.0557;SAR=131;SF=0;SRF=246;SRP=25.2144;SRR=180;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon11:c.C1364T:p.T455M,DMPK:NM_001081563:exon12:c.C1661T:p.T554M,DMPK:NM_001081560:exon13:c.C1616T:p.T539M,DMPK:NM_001081562:exon13:c.C1616T:p.T539M,DMPK:NM_004409:exon13:c.C1631T:p.T544M,DMPK:NM_001288764:exon14:c.C1709T:p.T570M;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0149;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0149;1000g2015aug_all=0.00559105;avsnp147=rs146680240;Kaviar_AF=0.0115134;Kaviar_AC=1780;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0033;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0289;ExAC_NFE=0.0161;ExAC_OTH=0.0108;ExAC_SAS=0.0063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.909;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.249;Polyphen2_HVAR_pred=B;LRT_score=0.055;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.37;FATHMM_pred=T;PROVEAN_score=-0.93;PROVEAN_pred=N;VEST3_score=0.068;CADD_raw=3.047;CADD_phred=22.4;DANN_score=0.991;fathmm-MKL_coding_score=0.743;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.106;MetaLR_pred=T;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=3.2;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.066;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=8.057;GDI_full_10282015=.;dpsi_max_tissue=4.2945;dpsi_zscore=2.478;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0122;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0034;gnomAD_exome_ASJ=0.0027;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0295;gnomAD_exome_NFE=0.0168;gnomAD_exome_OTH=0.0096;gnomAD_exome_SAS=0.0059;gnomAD_genome_ALL=0.0130;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0289;gnomAD_genome_NFE=0.0170;gnomAD_genome_OTH=0.0184;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-393.066,0,-611.867:837:426:350:8480:12260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46275976 . G C 3709.26 . AB=0.494037;ABP=3.19156;AC=18;AF=0.5;AN=36;AO=290;CIGAR=1X;DP=9465;DPB=587;DPRA=0;EPP=9.74935;EPPR=14.3602;GTI=0;LEN=1;MEANALT=3;MQM=29.6759;MQMR=31.7045;NS=1;NUMALT=1;ODDS=897.037;PAIRED=0.827586;PAIREDR=0.869416;PAO=0;PQA=0;PQR=0;PRO=0;QA=8435;QR=8872;RO=291;RPL=206;RPP=114.459;RPPR=252.909;RPR=84;RUN=1;SAF=100;SAP=63.6618;SAR=190;SF=0,1;SRF=94;SRP=82.1758;SRR=197;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon8:c.C1000G:p.L334V,DMPK:NM_001081563:exon9:c.C1297G:p.L433V,DMPK:NM_001081560:exon10:c.C1252G:p.L418V,DMPK:NM_001081562:exon10:c.C1252G:p.L418V,DMPK:NM_001288766:exon10:c.C1252G:p.L418V,DMPK:NM_004409:exon10:c.C1267G:p.L423V,DMPK:NM_001288764:exon11:c.C1345G:p.L449V;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0974;esp6500siv2_ea=0.1129;esp6500siv2_all=0.0974;esp6500siv2_ea=0.1129;1000g2015aug_all=0.145168;avsnp147=rs527221;Kaviar_AF=0.137463;Kaviar_AC=21252;Kaviar_AN=154602;ExAC_ALL=0.1469;ExAC_AFR=0.0702;ExAC_AMR=0.2314;ExAC_EAS=0.1873;ExAC_FIN=0.1425;ExAC_NFE=0.1182;ExAC_OTH=0.1301;ExAC_SAS=0.2358;CLNALLELEID=134350;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.462;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.085;MutationTaster_pred=P;MutationAssessor_score=1.735;MutationAssessor_pred=L;FATHMM_score=-0.18;FATHMM_pred=T;PROVEAN_score=-0.24;PROVEAN_pred=N;VEST3_score=0.144;CADD_raw=2.333;CADD_phred=18.38;DANN_score=0.997;fathmm-MKL_coding_score=0.801;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=3.87;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=11.524;GDI_full_10282015=.;dpsi_max_tissue=-0.3702;dpsi_zscore=-0.948;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1383;gnomAD_exome_AFR=0.0650;gnomAD_exome_AMR=0.2223;gnomAD_exome_ASJ=0.1224;gnomAD_exome_EAS=0.1825;gnomAD_exome_FIN=0.1361;gnomAD_exome_NFE=0.1127;gnomAD_exome_OTH=0.1460;gnomAD_exome_SAS=0.2222;gnomAD_genome_ALL=0.1163;gnomAD_genome_AFR=0.0648;gnomAD_genome_AMR=0.1862;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.1716;gnomAD_genome_FIN=0.1385;gnomAD_genome_NFE=0.1273;gnomAD_genome_OTH=0.1715;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-415.322,0,-472.674:587:291:290:8435:8872 . . . 0/1:-311.046,0,-393.394:452:235:209:6143:7063 . . . . . . . 0/1:-192.082,0,-253.315:341:172:166:4508:5264 . . . . . . . . . . . . 0/1:-304.917,0,-361.541:428:218:203:5801:6698 . 0/1:-479.079,0,-553.624:627:319:301:8872:9963 . . 0/1:-319.369,0,-446.156:512:266:241:6381:8105 0/1:-451,0,-543.979:626:319:304:8809:9877 . . . 0/1:-294.281,0,-323.232:398:195:201:5720:6061 . . 0/1:-349.254,0,-472.725:536:283:246:7158:8760 . . . . . . 0/1:-527.877,0,-541.904:694:344:340:10079:10242 . . . . . . . 0/1:-166.513,0,-247.15:282:150:129:3635:4687 . . . . . . . . 0/1:-169.835,0,-232.137:302:163:136:3853:4741 . . . 0/1:-435.115,0,-343.774:518:225:289:8030:6633 . . . . 0/1:-490.51,0,-506.753:678:328:344:9834:10037 . . . . . . . . . . . 0/1:-441.237,0,-425.583:582:277:296:8353:8316 . . . . . . . . . . 0/1:-654.033,0,-714.142:680:345:325:10063:10815:345,325 . . . . . . . . 0/1:-631.675,0,-525.403:591:268:317:9785:8390:268,317 . . 0/1:-655.237,0,-574.9:631:296:332:10121:9136:296,332 . . . . . chr19 46278261 . G A 3344.80 . AB=0.456349;ABP=11.3515;AC=1;AF=0.5;AN=2;AO=230;CIGAR=1X;DP=504;DPB=504;DPRA=0;EPP=16.6434;EPPR=4.92631;GTI=0;LEN=1;MEANALT=3;MQM=32.8478;MQMR=34.4706;NS=1;NUMALT=1;ODDS=770.169;PAIRED=0.826087;PAIREDR=0.811765;PAO=0;PQA=0;PQR=0;PRO=0;QA=6382;QR=7654;RO=255;RPL=144;RPP=34.7704;RPPR=25.1593;RPR=86;RUN=1;SAF=98;SAP=13.9243;SAR=132;SF=0;SRF=118;SRP=6.08442;SRR=137;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon7:c.C911T:p.P304L,DMPK:NM_001081563:exon8:c.C1208T:p.P403L,DMPK:NM_001081560:exon9:c.C1163T:p.P388L,DMPK:NM_001081562:exon9:c.C1163T:p.P388L,DMPK:NM_001288766:exon9:c.C1163T:p.P388L,DMPK:NM_004409:exon9:c.C1178T:p.P393L,DMPK:NM_001288764:exon10:c.C1256T:p.P419L;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000599042;avsnp147=rs200491028;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0006;ExAC_AMR=8.814e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.108;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.833;Polyphen2_HVAR_pred=P;LRT_score=0.055;LRT_pred=N;MutationTaster_score=0.838;MutationTaster_pred=D;MutationAssessor_score=0.755;MutationAssessor_pred=N;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-0.32;PROVEAN_pred=N;VEST3_score=0.339;CADD_raw=2.314;CADD_phred=18.26;DANN_score=0.989;fathmm-MKL_coding_score=0.717;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.686;MetaSVM_pred=T;MetaLR_score=0.251;MetaLR_pred=T;integrated_fitCons_score=0.778;integrated_confidence_value=0;GERP++_RS=2.31;phyloP7way_vertebrate=0.866;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.155;phastCons20way_mammalian=0.128;SiPhy_29way_logOdds=8.176;GDI_full_10282015=.;dpsi_max_tissue=-1.5894;dpsi_zscore=-1.752;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-347.689,0,-442.972:504:255:230:6382:7654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46280656 . C T 2998.16 . AB=0.460674;ABP=10.1835;AC=1;AF=0.5;AN=2;AO=246;CIGAR=1X;DP=534;DPB=534;DPRA=0;EPP=4.28141;EPPR=11.4973;GTI=0;LEN=1;MEANALT=3;MQM=29.6667;MQMR=29.5534;NS=1;NUMALT=1;ODDS=690.352;PAIRED=0.914634;PAIREDR=0.870229;PAO=0;PQA=0;PQR=0;PRO=0;QA=6250;QR=7762;RO=262;RPL=106;RPP=13.2145;RPPR=34.8696;RPR=140;RUN=1;SAF=125;SAP=3.15153;SAR=121;SF=0;SRF=151;SRP=16.2712;SRR=111;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon6:c.G808A:p.E270K,DMPK:NM_001081563:exon7:c.G1105A:p.E369K,DMPK:NM_001081560:exon8:c.G1075A:p.E359K,DMPK:NM_001081562:exon8:c.G1075A:p.E359K,DMPK:NM_001288766:exon8:c.G1075A:p.E359K,DMPK:NM_004409:exon8:c.G1075A:p.E359K,DMPK:NM_001288764:exon9:c.G1153A:p.E385K;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs370041130;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.565e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.653e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.192;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.539;Polyphen2_HVAR_pred=P;LRT_score=0.301;LRT_pred=N;MutationTaster_score=0.653;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.09;FATHMM_pred=T;PROVEAN_score=-0.58;PROVEAN_pred=N;VEST3_score=0.245;CADD_raw=2.708;CADD_phred=20.9;DANN_score=0.997;fathmm-MKL_coding_score=0.252;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.087;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.29;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.038;phastCons7way_vertebrate=0.504;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=2.883;GDI_full_10282015=.;dpsi_max_tissue=-0.0239;dpsi_zscore=-0.128;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.227e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.811e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-308.418,0,-389.727:534:262:246:6250:7762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46280768 . C T 6346.77 . AB=0.463393;ABP=16.0469;AC=1;AF=0.5;AN=2;AO=519;CIGAR=1X;DP=1120;DPB=1120;DPRA=0;EPP=4.21946;EPPR=3.40655;GTI=0;LEN=1;MEANALT=3;MQM=28.896;MQMR=30.3923;NS=1;NUMALT=1;ODDS=1461.4;PAIRED=0.921002;PAIREDR=0.879562;PAO=0;PQA=0;PQR=0;PRO=0;QA=13536;QR=16168;RO=548;RPL=249;RPP=4.85542;RPPR=12.9167;RPR=270;RUN=1;SAF=243;SAP=7.56663;SAR=276;SF=0;SRF=268;SRP=3.58091;SRR=280;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon6:c.G696A:p.P232P,DMPK:NM_001081563:exon7:c.G993A:p.P331P,DMPK:NM_001081560:exon8:c.G963A:p.P321P,DMPK:NM_001081562:exon8:c.G963A:p.P321P,DMPK:NM_001288766:exon8:c.G963A:p.P321P,DMPK:NM_004409:exon8:c.G963A:p.P321P,DMPK:NM_001288764:exon9:c.G1041A:p.P347P;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs150617093;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.664e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0602;dpsi_zscore=-0.309;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.156e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.316e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-643.588,0,-829.654:1120:548:519:13536:16168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46280785 . G A 5063.08 . AB=0.408291;ABP=61.1599;AC=2;AF=0.5;AN=4;AO=325;CIGAR=1X;DP=2143;DPB=796;DPRA=0;EPP=3.07043;EPPR=4.66963;GTI=0;LEN=1;MEANALT=3;MQM=30.4492;MQMR=31.8208;NS=1;NUMALT=1;ODDS=866.761;PAIRED=0.907692;PAIREDR=0.917453;PAO=0;PQA=0;PQR=0;PRO=0;QA=8351;QR=12724;RO=424;RPL=139;RPP=17.7696;RPPR=7.61956;RPR=186;RUN=1;SAF=169;SAP=4.13947;SAR=156;SF=0,1;SRF=212;SRP=3.0103;SRR=212;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon6:c.C679T:p.R227W,DMPK:NM_001081563:exon7:c.C976T:p.R326W,DMPK:NM_001081560:exon8:c.C946T:p.R316W,DMPK:NM_001081562:exon8:c.C946T:p.R316W,DMPK:NM_001288766:exon8:c.C946T:p.R316W,DMPK:NM_004409:exon8:c.C946T:p.R316W,DMPK:NM_001288764:exon9:c.C1024T:p.R342W\x3bDMPK:NM_001288765:exon6:c.C679T:p.R227W,DMPK:NM_001081563:exon7:c.C976T:p.R326W,DMPK:NM_001081560:exon8:c.C946T:p.R316W,DMPK:NM_001081562:exon8:c.C946T:p.R316W,DMPK:NM_001288766:exon8:c.C946T:p.R316W,DMPK:NM_004409:exon8:c.C946T:p.R316W,DMPK:NM_001288764:exon9:c.C1024T:p.R342W;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs759774926;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.667e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.046e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.865;Polyphen2_HVAR_pred=P;LRT_score=0.498;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.915;MutationAssessor_pred=M;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-5.23;PROVEAN_pred=D;VEST3_score=0.419;CADD_raw=4.984;CADD_phred=25.1;DANN_score=0.999;fathmm-MKL_coding_score=0.144;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.670;MetaSVM_pred=T;MetaLR_score=0.333;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-1.89;phyloP7way_vertebrate=-0.030;phyloP20way_mammalian=-0.948;phastCons7way_vertebrate=0.084;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=7.859;GDI_full_10282015=.;dpsi_max_tissue=-0.0496;dpsi_zscore=-0.263;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.156e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.805e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-388.469,0,-716.376:796:424:325:8351:12724 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1140.32,0,-1486.6:1347:695:622:18103:21926:695,622 . . . chr19 46280785 . G A 11297.30 . AB=0.461767;ABP=20.1129;AC=1;AF=0.5;AN=2;AO=622;CIGAR=1X;DP=1347;DPB=1347;DPRA=0;EPP=3.13598;EPPR=3.01342;GTI=0;LEN=1;MEANALT=3;MQM=38.918;MQMR=39.7784;NS=1;NUMALT=1;ODDS=2601.3;PAIRED=0.945338;PAIREDR=0.948201;PAO=0;PQA=0;PQR=0;PRO=0;QA=18103;QR=21926;RO=695;RPL=278;RPP=18.2176;RPPR=6.41279;RPR=344;RUN=1;SAF=306;SAP=3.35941;SAR=316;SF=1;SRF=355;SRP=3.71329;SRR=340;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon6:c.C679T:p.R227W,DMPK:NM_001081563:exon7:c.C976T:p.R326W,DMPK:NM_001081560:exon8:c.C946T:p.R316W,DMPK:NM_001081562:exon8:c.C946T:p.R316W,DMPK:NM_001288766:exon8:c.C946T:p.R316W,DMPK:NM_004409:exon8:c.C946T:p.R316W,DMPK:NM_001288764:exon9:c.C1024T:p.R342W\x3bDMPK:NM_001288765:exon6:c.C679T:p.R227W,DMPK:NM_001081563:exon7:c.C976T:p.R326W,DMPK:NM_001081560:exon8:c.C946T:p.R316W,DMPK:NM_001081562:exon8:c.C946T:p.R316W,DMPK:NM_001288766:exon8:c.C946T:p.R316W,DMPK:NM_004409:exon8:c.C946T:p.R316W,DMPK:NM_001288764:exon9:c.C1024T:p.R342W;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs759774926;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.667e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.046e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.865;Polyphen2_HVAR_pred=P;LRT_score=0.498;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.915;MutationAssessor_pred=M;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-5.23;PROVEAN_pred=D;VEST3_score=0.419;CADD_raw=4.984;CADD_phred=25.1;DANN_score=0.999;fathmm-MKL_coding_score=0.144;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.670;MetaSVM_pred=T;MetaLR_score=0.333;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-1.89;phyloP7way_vertebrate=-0.030;phyloP20way_mammalian=-0.948;phastCons7way_vertebrate=0.084;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=7.859;GDI_full_10282015=.;dpsi_max_tissue=-0.0496;dpsi_zscore=-0.263;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.156e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.805e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1140.32,0,-1486.6:1347:695:622:18103:21926:695,622 . . . chr19 46280917 . G A 4587.71 . AB=0.443526;ABP=23.1218;AC=2;AF=0.5;AN=4;AO=322;CIGAR=1X;DP=1438;DPB=726;DPRA=0;EPP=27.2876;EPPR=16.8398;GTI=0;LEN=1;MEANALT=3;MQM=34.1894;MQMR=33.1194;NS=1;NUMALT=1;ODDS=1100.8;PAIRED=0.891304;PAIREDR=0.909814;PAO=0;PQA=0;PQR=0;PRO=0;QA=8872;QR=11736;RO=377;RPL=108;RPP=78.7825;RPPR=57.205;RPR=214;RUN=1;SAF=157;SAP=3.4419;SAR=165;SF=0;SRF=205;SRP=9.2828;SRR=172;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0044;1000g2015aug_all=0.00599042;avsnp147=rs141629958;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;ExAC_ALL=0.0059;ExAC_AFR=0.0018;ExAC_AMR=0.0083;ExAC_EAS=0;ExAC_FIN=0.0014;ExAC_NFE=0.0044;ExAC_OTH=0.0056;ExAC_SAS=0.0177;CLNALLELEID=438994;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0896;dpsi_zscore=0.451;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0057;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0062;gnomAD_exome_ASJ=0.0049;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0045;gnomAD_exome_OTH=0.0077;gnomAD_exome_SAS=0.0183;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0038;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-496.76,0,-675.441:726:377:322:8872:11736 . . . . . . . . . . . . . . . . . . 0/1:-455.301,0,-572.682:712:352:331:8821:10920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46281385 . C T 14936.60 . AB=0.480248;ABP=10.1304;AC=1;AF=0.5;AN=2;AO=1009;CIGAR=1X;DP=2101;DPB=2101;DPRA=0;EPP=30.4905;EPPR=24.5527;GTI=0;LEN=1;MEANALT=3;MQM=32.9207;MQMR=34.3472;NS=1;NUMALT=1;ODDS=3439.29;PAIRED=0.913776;PAIREDR=0.915675;PAO=0;PQA=0;PQR=0;PRO=0;QA=27947;QR=30347;RO=1008;RPL=345;RPP=222.011;RPPR=246.215;RPR=664;RUN=1;SAF=646;SAP=175.37;SAR=363;SF=0;SRF=656;SRP=202.096;SRR=352;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon4:c.G408A:p.T136T,DMPK:NM_001081563:exon5:c.G705A:p.T235T,DMPK:NM_001081560:exon6:c.G675A:p.T225T,DMPK:NM_001081562:exon6:c.G675A:p.T225T,DMPK:NM_001288766:exon6:c.G675A:p.T225T,DMPK:NM_004409:exon6:c.G675A:p.T225T,DMPK:NM_001288764:exon7:c.G753A:p.T251T;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000599042;avsnp147=rs143006643;Kaviar_AF=0.0003493;Kaviar_AC=54;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5770;dpsi_zscore=-1.165;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.026e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=6.462e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.669e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1544.68,0,-1730.83:2101:1008:1009:27947:30347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46281386 . G A 12001.90 . AB=0.490173;ABP=4.41872;AC=1;AF=0.5;AN=2;AO=823;CIGAR=1X;DP=1679;DPB=1679;DPRA=0;EPP=27.8358;EPPR=17.9487;GTI=0;LEN=1;MEANALT=3;MQM=33.8214;MQMR=34.1281;NS=1;NUMALT=1;ODDS=2763.54;PAIRED=0.890644;PAIREDR=0.832915;PAO=0;PQA=0;PQR=0;PRO=0;QA=22456;QR=24622;RO=796;RPL=237;RPP=324.38;RPPR=255.119;RPR=586;RUN=1;SAF=519;SAP=124.974;SAR=304;SF=0;SRF=493;SRP=101.49;SRR=303;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon4:c.C407T:p.T136M,DMPK:NM_001081563:exon5:c.C704T:p.T235M,DMPK:NM_001081560:exon6:c.C674T:p.T225M,DMPK:NM_001081562:exon6:c.C674T:p.T225M,DMPK:NM_001288766:exon6:c.C674T:p.T225M,DMPK:NM_004409:exon6:c.C674T:p.T225M,DMPK:NM_001288764:exon7:c.C752T:p.T251M;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000798722;avsnp147=rs61747614;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0004;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0029;ExAC_NFE=0.0004;ExAC_OTH=0.0034;ExAC_SAS=8.26e-05;CLNALLELEID=181472;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;SIFT_score=0.756;SIFT_pred=T;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.26;Polyphen2_HVAR_pred=B;LRT_score=0.017;LRT_pred=N;MutationTaster_score=0.994;MutationTaster_pred=D;MutationAssessor_score=1.345;MutationAssessor_pred=L;FATHMM_score=-0.19;FATHMM_pred=T;PROVEAN_score=-3.14;PROVEAN_pred=D;VEST3_score=0.185;CADD_raw=2.339;CADD_phred=18.42;DANN_score=0.899;fathmm-MKL_coding_score=0.854;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.980;MetaSVM_pred=T;MetaLR_score=0.139;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=3.05;phyloP7way_vertebrate=-0.029;phyloP20way_mammalian=0.091;phastCons7way_vertebrate=0.783;phastCons20way_mammalian=0.969;SiPhy_29way_logOdds=10.050;GDI_full_10282015=.;dpsi_max_tissue=0.0706;dpsi_zscore=0.384;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0015;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0019;gnomAD_exome_SAS=3.35e-05;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1256.6,0,-1398.64:1679:796:823:22456:24622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46281745 . A G,C 5253.67 . AB=0.486111;ABP=3.61349;AC=96,0;AF=0.5;AN=152;AO=175;CIGAR=1X;DP=35802;DPB=360;DPRA=0;EPP=23.8688;EPPR=15.074;GTI=0;LEN=1;MEANALT=3;MQM=32.8;MQMR=31.9074;NS=1;NUMALT=1;ODDS=489.304;PAIRED=0.948571;PAIREDR=0.91358;PAO=0;PQA=0;PQR=0;PRO=0;QA=5069;QR=4333;RO=162;RPL=80;RPP=5.80219;RPPR=9.49791;RPR=95;RUN=1;SAF=82;SAP=4.51172;SAR=93;SF=0,1;SRF=88;SRP=5.63751;SRR=74;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.5233;esp6500siv2_ea=0.4571;esp6500siv2_all=0.5233;esp6500siv2_ea=0.4571;1000g2015aug_all=.;avsnp147=rs1799894;Kaviar_AF=0.493493;Kaviar_AC=76295;Kaviar_AN=154602;ExAC_ALL=0.5351;ExAC_AFR=0.6564;ExAC_AMR=0.7046;ExAC_EAS=0.6529;ExAC_FIN=0.4714;ExAC_NFE=0.4625;ExAC_OTH=0.4922;ExAC_SAS=0.5975;CLNALLELEID=134349;CLNDN=Steinert_myotonic_dystrophy_syndrome|not_specified;CLNDISDB=MedGen:C0027126,OMIM:160900,Orphanet:ORPHA206647,SNOMED_CT:77956009|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4996;dpsi_zscore=1.132;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5344;gnomAD_exome_AFR=0.6531;gnomAD_exome_AMR=0.6973;gnomAD_exome_ASJ=0.3818;gnomAD_exome_EAS=0.6434;gnomAD_exome_FIN=0.4653;gnomAD_exome_NFE=0.4623;gnomAD_exome_OTH=0.5168;gnomAD_exome_SAS=0.5973;gnomAD_genome_ALL=0.5327;gnomAD_genome_AFR=0.6450;gnomAD_genome_AMR=0.6384;gnomAD_genome_ASJ=0.37;gnomAD_genome_EAS=0.6446;gnomAD_genome_FIN=0.4615;gnomAD_genome_NFE=0.4705;gnomAD_genome_OTH=0.5102;Whole_Blood=Whole_Blood::0.45664::0.191678;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7733;dpsi_zscore=1.368;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-285.755,0,-220.998,.,.,.:360:162:175,.:5069,.:4333 1/1:-1074.05,-143.805,0,.,.,.:527:9:502,.:14399,.:207 0/1:-292.986,0,-259.191,.,.,.:396:186:195,.:5620,.:4911 1/1:-521.636,-67.1737,0,.,.,.:267:9:250,.:7173,.:169 0/1:-311.776,0,-387.986,.,.,.:521:260:223,.:6236,.:6989 0/1:-477.982,0,-391.448,.,.,.:629:284:305,.:8705,.:7460 . 0/1:-396.083,0,-397.462,.,.,.:556:256:263,.:7286,.:7302 0/1:-280.334,0,-312.141,.,.,.:435:218:190,.:5596,.:5631 0/1:-281.736,0,-267.48,.,.,.:421:195:193,.:5447,.:5128 0/1:-276.635,0,-274.257,.,.,.:410:192:188,.:5441,.:5105 . 0/1:-300.569,0,-212.913,.,.,.:362:158:187,.:5518,.:4167 . . . 0/1:-194.933,0,-170.62,.,.,.:283:134:134,.:3679,.:3477 1/1:-2023.31,-246.183,0,.,.,.:967:21:927,.:27128,.:516 0/1:-321.272,0,-283.199,.,.,.:406:195:198,.:5688,.:5219 . . 1/1:-923.082,-121.706,0,.,.,.:451:8:430,.:12509,.:201 1/1:-519.544,-68.2995,0,.,.,.:261:5:251,.:7251,.:99 1/1:-1035.84,-128.39,0,.,.,.:508:10:481,.:14249,.:278 . . 0/1:-341.819,0,-404.764,.,.,.:540:275:232,.:6766,.:7399 . 0/1:-247.538,0,-192.108,.,.,.:360:157:175,.:4931,.:3963 0/1:-360.667,0,-226.815,.,.,.:405:159:220,.:6362,.:4389 0/1:-266.087,0,-283.847,.,.,.:373:190:165,.:4807,.:5124 1/1:-1045.48,-128.408,0,.,.,.:496:9:474,.:13949,.:218 . . 0/1:-305.59,0,-328.588,.,.,.:452:217:209,.:5723,.:5876 0/1:-376.739,0,-426.525,.,.,.:591:289:258,.:7231,.:7772 1/1:-1674.3,-231.135,0,.,.,.:821:5:794,.:22669,.:114 . . 0/1:-352.68,0,-281.947,.,.,.:443:198:221,.:6479,.:5362 . . 0/1:-341.619,0,-314.88,.,.,.:474:213:224,.:6319,.:5768 . 0/1:-423.131,0,-337.237,.,.,.:542:244:271,.:7659,.:6607 0/1:-379.687,0,-359.558,.,.,.:528:253:244,.:6974,.:6690 . 0/1:-221.734,0,-173.559,.,.,.:295:129:157,.:4123,.:3409 0/1:-192.744,0,-265.203,.,.,.:322:167:132,.:3782,.:4651 0/1:-421.188,0,-394.719,.,.,.:566:263:275,.:8032,.:7012 . 0/1:-225.661,0,-302.642,.,.,.:411:213:168,.:4843,.:5624 0/1:-407.015,0,-347.725,.,.,.:524:240:254,.:7382,.:6517 0/1:-463.2,0,-343.866,.,.,.:574:252:296,.:8548,.:6685 . 0/1:-243.677,0,-270.009,.,.,.:387:196:167,.:4750,.:5139 1/1:-1011.89,-129.8,0,.,.,.:496:6:470,.:13622,.:179 0/1:-186.213,0,-170.73,.,.,.:296:134:144,.:4034,.:3748 0/1:-221.419,0,-275.521,.,.,.:366:188:149,.:4400,.:4931 0/1:-430.881,0,-393.459,.,.,.:596:281:287,.:8218,.:7676 . . . 0/1:-161.17,0,-158.998,.,.,.:266:122:123,.:3486,.:3338 . . 1/1:-429.009,-62.2011,0,.,.,.:234:3:214,.:6103,.:42 0/1:-299.401,0,-262.892,.,.,.:422:189:201,.:5642,.:4975 . 0/1:-351.579,0,-348.189,.,.,.:534:255:243,.:6913,.:6709 0/1:-328.239,0,-313.449,.,.,.:462:218:212,.:6072,.:5914 0/1:-437.1,0,-411.246,.,.,.:572:273:269,.:7664,.:7312 0/1:-414.641,0,-369.03,.,.,.:562:261:273,.:7861,.:6996 0/1:-186.119,0,-191.275,.,.,.:306:142:136,.:3935,.:3801 . 1/1:-1249.49,-147.204,0,.,.,.:641:23:599,.:17360,.:562 0/1:-394.205,0,-390.172,.,.,.:568:265:262,.:7571,.:7232 0/1:-287.518,0,-376.192,.,.,.:486:249:209,.:5902,.:6752 . 0/1:-227.741,0,-158.097,.,.,.:286:121:148,.:4246,.:3065 . 1/1:-1101.94,-152.423,0,.,.,.:561:11:531,.:15193,.:285 . 0/1:-305.624,0,-317.784,.,.,.:449:229:201,.:5886,.:6034 . . . 0/1:-320.254,0,-384.016,.,.,.:541:266:239,.:6592,.:6992 1/1:-603.458,-83.0681,0,.,.,.:284:1:279,.:8087,.:14 . . 0/1:-338.97,0,-279.539,.,.,.:448:194:226,.:6407,.:5328 0/1:-485.077,0,-348.106,.,.,.:605:267:306,.:8886,.:7018 1/1:-1019.67,-130.217,0,.,.,.:504:11:477,.:13784,.:223 0/1:-409.138,0,-381.902,.,.,.:561:262:262,.:7605,.:7071 . 1/1:-1415.15,-147.698,0,.,.,.:575:9:556,.:16883,.:254:9,556 1/1:-1329.6,-130.893,0,.,.,.:506:9:494,.:15806,.:239:9,494 0/1:-511.961,0,-446.637,.,.,.:495:238:247,.:7727,.:6980:238,247 1/1:-984.071,-111.886,0,.,.,.:387:2:378,.:11717,.:28:2,378 . 0/0:0,.,.,-119.645,.,-1170.99:549:502:.,28:.,485:14218:502,28 0/1:-468.18,0,-535.955,.,.,.:539:278:239,.:7427,.:8174:278,239 0/1:-458.026,0,-488.486,.,.,.:517:265:234,.:7330,.:7609:265,234 1/1:-1221.78,-131.863,0,.,.,.:471:5:460,.:14388,.:128:5,460 0/0:0,.,.,-114.085,.,-1151.71:546:498:.,31:.,572:14022:498,31 1/1:-1363.56,-136.213,0,.,.,.:549:12:529,.:16287,.:322:12,529 1/1:-1154.65,-121.289,0,.,.,.:447:4:432,.:13522,.:114:4,432 . 1/1:-1102.37,-113.745,0,.,.,.:430:7:419,.:13159,.:164:7,419 1/1:-1239.04,-114.088,0,.,.,.:515:15:490,.:15133,.:439:15,490 0/1:-488.744,0,-441.768,.,.,.:496:240:239,.:7446,.:6894:240,239 . . 0/1:-366.514,0,-355.218,.,.,.:371:189:177,.:5679,.:5498:189,177 0/1:-523.432,0,-400.487,.,.,.:499:233:252,.:7959,.:6475:233,252 chr19 46281913 . C T 5828.27 . AB=0.479142;ABP=6.1808;AC=1;AF=0.5;AN=2;AO=402;CIGAR=1X;DP=839;DPB=839;DPRA=0;EPP=3.55047;EPPR=4.06903;GTI=0;LEN=1;MEANALT=3;MQM=33.5697;MQMR=31.5746;NS=1;NUMALT=1;ODDS=1342.01;PAIRED=0.895522;PAIREDR=0.890547;PAO=0;PQA=0;PQR=0;PRO=0;QA=10794;QR=12348;RO=402;RPL=227;RPP=17.6164;RPPR=12.5389;RPR=175;RUN=1;SAF=161;SAP=37.581;SAR=241;SF=0;SRF=148;SRP=63.7035;SRR=254;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs375445989;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=7.989e-05;ExAC_AFR=0;ExAC_AMR=9.252e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0681;dpsi_zscore=0.374;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.752e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.237e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.684e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-595.566,0,-652.842:839:402:402:10794:12348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46282503 . A C 2142.61 . AB=0.431858;ABP=25.7973;AC=18;AF=0.5;AN=68;AO=244;CIGAR=1X;DP=20479;DPB=565;DPRA=0;EPP=3.0459;EPPR=19.9931;GTI=0;LEN=1;MEANALT=3;MQM=24.4467;MQMR=30.1889;NS=1;NUMALT=1;ODDS=508.814;PAIRED=0.836066;PAIREDR=0.837134;PAO=0;PQA=0;PQR=0;PRO=0;QA=6230;QR=8162;RO=307;RPL=79;RPP=68.8308;RPPR=42.7971;RPR=165;RUN=1;SAF=146;SAP=23.5147;SAR=98;SF=0,1;SRF=178;SRP=19.9931;SRR=129;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0946;esp6500siv2_ea=0.1176;esp6500siv2_all=0.0946;esp6500siv2_ea=0.1176;1000g2015aug_all=0.122604;avsnp147=rs572634;Kaviar_AF=0.134539;Kaviar_AC=20800;Kaviar_AN=154602;ExAC_ALL=0.1409;ExAC_AFR=0.0489;ExAC_AMR=0.2292;ExAC_EAS=0.1015;ExAC_FIN=0.1527;ExAC_NFE=0.1229;ExAC_OTH=0.1228;ExAC_SAS=0.2262;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2016;dpsi_zscore=0.725;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1436;gnomAD_exome_AFR=0.0462;gnomAD_exome_AMR=0.2115;gnomAD_exome_ASJ=0.1212;gnomAD_exome_EAS=0.0940;gnomAD_exome_FIN=0.1555;gnomAD_exome_NFE=0.1199;gnomAD_exome_OTH=0.1499;gnomAD_exome_SAS=0.2295;gnomAD_genome_ALL=0.1136;gnomAD_genome_AFR=0.0488;gnomAD_genome_AMR=0.1838;gnomAD_genome_ASJ=0.1367;gnomAD_genome_EAS=0.0974;gnomAD_genome_FIN=0.1532;gnomAD_genome_NFE=0.1355;gnomAD_genome_OTH=0.1759;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-238.641,0,-420.083:565:307:244:6230:8162 . . . 0/1:-252.751,0,-347.035:472:237:220:5660:6251 . . . . . . . 0/1:-129.686,0,-226.797:322:175:136:3531:4405 . . . . . . . . . . . . 0/1:-263.508,0,-369.542:493:264:219:5926:6934 . 0/1:-404.22,0,-459.673:691:346:333:8828:8869 . . 0/1:-292.304,0,-462.039:630:337:272:6997:8608 0/1:-264.748,0,-338.543:527:258:251:6477:6650 . . . 0/1:-237.566,0,-299.053:406:212:185:4940:5596 . . 0/1:-281.19,0,-376.6:514:263:242:6138:7066 . . . . . . 0/1:-393.582,0,-519.582:723:367:344:8926:9607 . . . . . . . . . . . . . . . . 0/1:-94.462,0,-234.968:280:160:112:2937:4186 . . . 0/1:-252.974,0,-374.699:542:286:242:6256:7180 . . . . 0/1:-271.827,0,-434.889:600:324:263:6700:8334 . . . . . . . . . . . 0/1:-324.274,0,-429.394:646:331:300:7952:8571 0/1:-168.548,0,-225.02:324:172:144:3897:4366 . . . . . . . 0/0:0,-169.658,-1716.72:820:764:47:909:21393:764,47 . 0/1:-567.876,0,-724.309:767:400:355:10004:11452:400,355 0/0:0,-74.8389,-775.702:379:348:23:422:9848:348,23 0/0:0,-107.066,-1131.68:551:504:40:686:14074:504,40 0/0:0,-172.963,-1753.53:833:770:52:921:21774:770,52 0/0:0,-130.429,-1373.59:662:609:44:801:17080:609,44 0/0:0,-145.764,-1560.33:756:687:55:947:19459:687,55 0/0:0,-128.74,-1330.77:644:590:44:718:16638:590,44 0/0:0,-118.508,-1443.83:739:660:65:1174:18315:660,65 0/0:0,-146.264,-1674.54:811:739:58:1169:20907:739,58 0/1:-363.114,0,-520.145:500:279:216:6287:7918:279,216 0/0:0,-99.9962,-1157.05:560:508:47:808:14594:508,47 0/0:0,-127.629,-1267.99:626:579:41:732:15747:579,41 0/1:-507.472,0,-743.059:740:404:321:9224:11450:404,321 0/0:0,-117.182,-1271.31:632:578:46:840:16036:578,46 0/0:0,-149.15,-1584.3:760:703:51:906:19678:703,51 0/0:0,-106.69,-1111.74:542:500:35:636:13916:500,35 0/0:0,-135.154,-1403.09:646:602:36:642:17261:602,36 0/0:0,-155.821,-1657.22:776:712:48:903:20619:712,48 chr19 46282514 . G C 3800.92 . AB=0.442105;ABP=19.6049;AC=2;AF=0.5;AN=4;AO=252;CIGAR=1X;DP=1374;DPB=570;DPRA=0;EPP=5.80219;EPPR=3.4586;GTI=0;LEN=1;MEANALT=3;MQM=29.123;MQMR=31.9226;NS=1;NUMALT=1;ODDS=712.294;PAIRED=0.876984;PAIREDR=0.877419;PAO=0;PQA=0;PQR=0;PRO=0;QA=6883;QR=9343;RO=310;RPL=99;RPP=28.1373;RPPR=37.3336;RPR=153;RUN=1;SAF=152;SAP=26.3105;SAR=100;SF=0;SRF=197;SRP=52.4358;SRR=113;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs781734640;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.252e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5703;dpsi_zscore=1.202;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-323.154,0,-511.101:570:310:252:6883:9343 . . . . . . . . . . . . . 0/1:-463.99,0,-787.895:804:446:344:9517:13573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46282683 . G A 1329.72 . AB=0.422983;ABP=24.0826;AC=2;AF=0.5;AN=4;AO=173;CIGAR=1X;DP=646;DPB=409;DPRA=0;EPP=4.52908;EPPR=6.04197;GTI=0;LEN=1;MEANALT=3;MQM=27.948;MQMR=28.1836;NS=1;NUMALT=1;ODDS=394.321;PAIRED=0.930636;PAIREDR=0.898551;PAO=0;PQA=0;PQR=0;PRO=0;QA=4475;QR=5835;RO=207;RPL=86;RPP=3.02285;RPPR=9.56668;RPR=87;RUN=1;SAF=36;SAP=131.052;SAR=137;SF=0;SRF=65;SRP=65.2067;SRR=142;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0070;esp6500siv2_ea=0.0093;esp6500siv2_all=0.0070;esp6500siv2_ea=0.0093;1000g2015aug_all=0.0127796;avsnp147=rs145200358;Kaviar_AF=0.0102651;Kaviar_AC=1587;Kaviar_AN=154602;ExAC_ALL=0.0110;ExAC_AFR=0.0011;ExAC_AMR=0.0039;ExAC_EAS=0.0038;ExAC_FIN=0.0009;ExAC_NFE=0.0086;ExAC_OTH=0.0155;ExAC_SAS=0.0394;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6400;dpsi_zscore=1.262;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0.0066;gnomAD_exome_EAS=0.0030;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0092;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0398;gnomAD_genome_ALL=0.0051;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0067;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0086;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-192.669,0,-282.149:409:207:173:4475:5835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-114.333,0,-136.688:237:114:103:2737:3210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46283281 . C T 5952.74 . AB=0.4572;ABP=18.8098;AC=1;AF=0.5;AN=2;AO=454;CIGAR=1X;DP=993;DPB=993;DPRA=0;EPP=6.24359;EPPR=5.88857;GTI=0;LEN=1;MEANALT=3;MQM=30.7379;MQMR=32.2608;NS=1;NUMALT=1;ODDS=1370.67;PAIRED=0.854626;PAIREDR=0.760784;PAO=0;PQA=0;PQR=0;PRO=0;QA=12259;QR=15393;RO=510;RPL=194;RPP=23.845;RPPR=5.46279;RPR=260;RUN=1;SAF=186;SAP=35.171;SAR=268;SF=0;SRF=201;SRP=52.6732;SRR=309;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001081563:exon1:c.G37A:p.V13M;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs377760466;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-0.05;PROVEAN_pred=N;VEST3_score=0.113;CADD_raw=2.858;CADD_phred=21.7;DANN_score=0.986;fathmm-MKL_coding_score=0.105;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_pred=T;integrated_fitCons_score=0.767;integrated_confidence_value=0;GERP++_RS=2.96;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.011;phastCons20way_mammalian=0.146;SiPhy_29way_logOdds=7.073;GDI_full_10282015=.;dpsi_max_tissue=-0.5978;dpsi_zscore=-1.184;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0062;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.533e-05;gnomAD_exome_OTH=0.0003;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-609.486,0,-852.383:993:510:454:12259:15393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 46285532 . C T 5317.51 . AB=0.413882;ABP=78.1857;AC=1;AF=0.5;AN=2;AO=483;CIGAR=1X;DP=1167;DPB=1167;DPRA=0;EPP=15.639;EPPR=134.82;GTI=0;LEN=1;MEANALT=3;MQM=29.6791;MQMR=31.0033;NS=1;NUMALT=1;ODDS=1224.4;PAIRED=0.674948;PAIREDR=0.71381;PAO=0;PQA=0;PQR=0;PRO=0;QA=12085;QR=18403;RO=601;RPL=266;RPP=13.8047;RPPR=39.8675;RPR=217;RUN=1;SAF=265;SAP=12.9415;SAR=218;SF=0;SRF=297;SRP=3.18734;SRR=304;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001081560:exon1:c.G79A:p.D27N,DMPK:NM_001081562:exon1:c.G79A:p.D27N,DMPK:NM_001288764:exon1:c.G98A:p.R33Q,DMPK:NM_001288766:exon1:c.G79A:p.D27N,DMPK:NM_004409:exon1:c.G79A:p.D27N;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs761649903;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=4.491e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.332e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.42;MutationAssessor_pred=M;FATHMM_score=-0.42;FATHMM_pred=T;PROVEAN_score=-3.82;PROVEAN_pred=D;VEST3_score=0.101;CADD_raw=2.617;CADD_phred=20.3;DANN_score=0.998;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.574;MetaSVM_pred=T;MetaLR_score=0.393;MetaLR_pred=T;integrated_fitCons_score=0.742;integrated_confidence_value=0;GERP++_RS=4.14;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.700;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.797e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.066e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-545.814,0,-990.826:1167:601:483:12085:18403 . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47104678 . C A 1246.50 . AB=0.428822;ABP=28.049;AC=6;AF=0.5;AN=12;AO=244;CIGAR=1X;DP=2078;DPB=569;DPRA=0;EPP=39.4626;EPPR=103.831;GTI=0;LEN=1;MEANALT=3;MQM=30.5041;MQMR=29.5475;NS=1;NUMALT=1;ODDS=523.272;PAIRED=0.77459;PAIREDR=0.770492;PAO=0;PQA=0;PQR=0;PRO=0;QA=5478;QR=9111;RO=305;RPL=152;RPP=35.0484;RPPR=29.5023;RPR=92;RUN=1;SAF=146;SAP=23.5147;SAR=98;SF=0;SRF=168;SRP=9.85222;SRR=137;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=CALM3;GeneDetail.refGene=NM_005184:c.-14C>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0075;esp6500siv2_ea=0.0106;esp6500siv2_all=0.0075;esp6500siv2_ea=0.0106;1000g2015aug_all=0.00379393;avsnp147=rs201296349;Kaviar_AF=0.0047218;Kaviar_AC=730;Kaviar_AN=154602;ExAC_ALL=0.0136;ExAC_AFR=0.0045;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0292;ExAC_OTH=0.0093;ExAC_SAS=0.0077;CLNALLELEID=379605;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0121;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0080;gnomAD_exome_ASJ=0.0341;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0040;gnomAD_exome_NFE=0.0177;gnomAD_exome_OTH=0.0152;gnomAD_exome_SAS=0.0064;gnomAD_genome_ALL=0.0108;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0405;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0058;gnomAD_genome_NFE=0.0171;gnomAD_genome_OTH=0.0123;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-245.022,0,-468.51:569:305:244:5478:9111 . . . . . 0/1:-155.243,0,-325.844:401:214:180:3874:6114 . . 0/1:-94.9523,0,-259.562:269:150:115:2471:4424 . . . . . . . . . . . 0/1:-97.3012,0,-259.45:287:165:114:2596:4920 . . . . . . . . . . . . . . 0/1:-114.964,0,-294.437:296:174:118:2632:5401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-118.876,0,-209.298:256:132:117:2583:3991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47104779 . A C 237.91 . AB=0.354839;ABP=14.358;AC=10;AF=0.5;AN=18;AO=22;CIGAR=1X;DP=485;DPB=62;DPRA=0;EPP=6.56362;EPPR=16.2152;GTI=0;LEN=1;MEANALT=2;MQM=26.5;MQMR=31.3243;NS=1;NUMALT=1;ODDS=31.8455;PAIRED=0.954545;PAIREDR=0.945946;PAO=0;PQA=0;PQR=0;PRO=0;QA=635;QR=1096;RO=37;RPL=18;RPP=22.3561;RPPR=39.6906;RPR=4;RUN=1;SAF=4;SAP=22.3561;SAR=18;SF=0;SRF=5;SRP=45.7942;SRR=32;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0249601;avsnp147=rs184847124;Kaviar_AF=0.0226295;Kaviar_AC=589;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0150;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0241;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-24.2733,0,-60.746:62:37:22:635:1096 . . . . 0/1:-15.2385,0,-41.2111:37:22:12:384:733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-13.2663,0,-44.1005:37:23:14:361:721 . 0/1:-40.3134,0,-52.5084:77:41:34:906:1182 . . . . . . 1/1:-79.2136,-9.81428,0:47:2:41:1069:68 . . . 0/1:-11.9479,0,-33.4654:31:16:14:346:534 . . . . . . . . . . 0/1:-34.9593,0,-76.2601:81:48:30:774:1356 . . . . . . . . . . . . . 0/1:-31.1005,0,-44.5888:46:26:20:655:807 . . . . . . . . 0/1:-44.8628,0,-49.8474:67:32:30:863:907 . . . . . . . . . . . . . . . . . . . . . chr19 47109176 . A G 37184.00 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1690;CIGAR=1X;DP=1768;DPB=1768;DPRA=0;EPP=58.6;EPPR=3.07234;GTI=0;LEN=1;MEANALT=3;MQM=35.4781;MQMR=33.5429;NS=1;NUMALT=1;ODDS=2058.21;PAIRED=0.955621;PAIREDR=0.914286;PAO=0;PQA=0;PQR=0;PRO=0;QA=48567;QR=988;RO=35;RPL=1159;RPP=509.752;RPPR=13.4954;RPR=531;RUN=1;SAF=546;SAP=462.494;SAR=1144;SF=0;SRF=16;SRP=3.56868;SRR=19;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0016;1000g2015aug_all=.;avsnp147=rs371227609;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0971;dpsi_zscore=0.475;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3824.19,-441.991,0:1768:35:1690:48567:988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47111722 . CTT CT 7020.82 . AB=0.452895;ABP=25.3087;AC=3;AF=0.5;AN=6;AO=524;CIGAR=1M1D1M;DP=3962;DPB=976.667;DPRA=0;EPP=5.81167;EPPR=11.3374;GTI=0;LEN=1;MEANALT=28;MQM=29.5019;MQMR=33.2739;NS=1;NUMALT=1;ODDS=1470.43;PAIRED=0.950382;PAIREDR=0.941304;PAO=6.5;PQA=152;PQR=32;PRO=1.5;QA=12765;QR=13086;RO=460;RPL=163;RPP=165.473;RPPR=155.957;RPR=361;RUN=1;SAF=340;SAP=103.859;SAR=184;SF=0;SRF=271;SRP=34.7516;SRR=189;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-674.595,0,-726.566:1157:460:524:12765:13086 0/1:-765.668,0,-1078.83:1294:605:548:13502:17643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-774.011,0,-1134.16:1511:691:617:14740:19698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47112261 . C G 7976.81 . AB=0.516098;ABP=5.31736;AC=1;AF=0.5;AN=2;AO=529;CIGAR=1X;DP=1025;DPB=1025;DPRA=0;EPP=44.884;EPPR=31.2394;GTI=0;LEN=1;MEANALT=3;MQM=34.1021;MQMR=32.9786;NS=1;NUMALT=1;ODDS=1626.77;PAIRED=0.960302;PAIREDR=0.959402;PAO=0;PQA=0;PQR=0;PRO=0;QA=14012;QR=13242;RO=468;RPL=233;RPP=19.3025;RPPR=19.7139;RPR=296;RUN=1;SAF=279;SAP=6.46249;SAR=250;SF=0;SRF=243;SRP=4.51363;SRR=225;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs745378856;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2212;dpsi_zscore=-0.727;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.175e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.066e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-812.649,0,-719.856:1025:468:529:14012:13242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47112313 . T A 8214.85 . AB=0.468103;ABP=13.2611;AC=1;AF=0.5;AN=2;AO=543;CIGAR=1X;DP=1160;DPB=1160;DPRA=0;EPP=8.48497;EPPR=3.04526;GTI=0;LEN=1;MEANALT=3;MQM=34.3886;MQMR=34.8426;NS=1;NUMALT=1;ODDS=1891.54;PAIRED=0.963168;PAIREDR=0.951699;PAO=0;PQA=0;PQR=0;PRO=0;QA=14705;QR=15599;RO=559;RPL=326;RPP=50.5228;RPPR=10.8765;RPR=217;RUN=1;SAF=246;SAP=13.4118;SAR=297;SF=0;SRF=225;SRP=49.1628;SRR=334;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.9308;dpsi_zscore=-2.139;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-835.913,0,-907.972:1160:559:543:14705:15599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47112357 . CCTCTCTCTCTG CCTCTCTCTG 4221.31 . AB=0.370441;ABP=154.93;AC=1;AF=0.5;AN=2;AO=386;CIGAR=1M2D9M;DP=1042;DPB=1006.08;DPRA=0;EPP=4.45045;EPPR=29.0893;GTI=0;LEN=2;MEANALT=124;MQM=32.7332;MQMR=36.2255;NS=1;NUMALT=1;ODDS=971.993;PAIRED=0.948187;PAIREDR=0.965686;PAO=39.5;PQA=1123;PQR=1361;PRO=46.5;QA=8317;QR=12712;RO=408;RPL=176;RPP=9.51347;RPPR=3.03159;RPR=210;RUN=1;SAF=129;SAP=95.1797;SAR=257;SF=0;SRF=124;SRP=139.26;SRR=284;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0197;esp6500siv2_ea=0.0251;esp6500siv2_all=0.0197;esp6500siv2_ea=0.0251;1000g2015aug_all=0.00599042;avsnp147=rs200365925;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;ExAC_ALL=0.0123;ExAC_AFR=0.0034;ExAC_AMR=0.0065;ExAC_EAS=0.0001;ExAC_FIN=0.0148;ExAC_NFE=0.0179;ExAC_OTH=0.0045;ExAC_SAS=0.0051;CLNALLELEID=410636;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0127;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0.0180;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0164;gnomAD_exome_NFE=0.0189;gnomAD_exome_OTH=0.0117;gnomAD_exome_SAS=0.0049;gnomAD_genome_ALL=0.0143;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0160;gnomAD_genome_NFE=0.0224;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-440.148,0,-769.205:1042:408:386:8317:12712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47258842 . C T 6814.29 . AB=0.435544;ABP=31.8428;AC=37;AF=0.5;AN=62;AO=348;CIGAR=1X;DP=29418;DPB=799;DPRA=0;EPP=5.03202;EPPR=33.3824;GTI=0;LEN=1;MEANALT=3;MQM=27.0575;MQMR=28.3307;NS=1;NUMALT=1;ODDS=827.528;PAIRED=0.885057;PAIREDR=0.88189;PAO=0;PQA=0;PQR=0;PRO=0;QA=8589;QR=11120;RO=381;RPL=169;RPP=3.63429;RPPR=3.06159;RPR=179;RUN=1;SAF=160;SAP=7.90235;SAR=188;SF=0,1;SRF=180;SRP=5.52374;SRR=201;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C135T:p.A45A,FKRP:NM_024301:exon4:c.C135T:p.A45A;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.1419;esp6500siv2_ea=0.1418;esp6500siv2_all=0.1419;esp6500siv2_ea=0.1418;1000g2015aug_all=0.15016;avsnp147=rs2287717;Kaviar_AF=0.133756;Kaviar_AC=20679;Kaviar_AN=154602;ExAC_ALL=0.1701;ExAC_AFR=0.1775;ExAC_AMR=0.1714;ExAC_EAS=0.1575;ExAC_FIN=0.1612;ExAC_NFE=0.1651;ExAC_OTH=0.1650;ExAC_SAS=0.1909;CLNALLELEID=101999;CLNDN=Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|Congenital_muscular_dystrophy-dystroglycanopathy_(with_or_without_mental_retardation)_type_B5|Congenital_muscular_dystrophy-dystroglycanopathy_with_brain_and_eye_anomalies_type_A5|not_specified;CLNDISDB=MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1422;gnomAD_exome_AFR=0.1528;gnomAD_exome_AMR=0.1447;gnomAD_exome_ASJ=0.1274;gnomAD_exome_EAS=0.1299;gnomAD_exome_FIN=0.1160;gnomAD_exome_NFE=0.1404;gnomAD_exome_OTH=0.1327;gnomAD_exome_SAS=0.1712;gnomAD_genome_ALL=0.1381;gnomAD_genome_AFR=0.1495;gnomAD_genome_AMR=0.1340;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.1233;gnomAD_genome_FIN=0.1293;gnomAD_genome_NFE=0.1368;gnomAD_genome_OTH=0.1212;Whole_Blood=Whole_Blood::0.138211::0.201013;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-367.405,0,-531.494:799:381:348:8589:11120 . 0/1:-397.095,0,-680.903:825:425:344:8649:12679 . . . 0/1:-334.491,0,-666.839:796:427:311:7762:12322 . . 0/1:-349.088,0,-863.722:1000:556:370:9072:16366 . . . 1/1:-986.838,-140.646,0:721:28:604:14684:662 . . . 0/1:-943.23,0,-1382.63:1904:925:821:20386:27085 . 0/1:-302.511,0,-508.736:724:357:299:7401:10529 0/1:-263.102,0,-538.309:633:328:256:6533:9459 . . 0/1:-522.461,0,-868.284:1171:588:493:11768:17091 . 1/1:-884.711,-140.174,0:682:28:557:13511:604 0/1:-426.466,0,-774.569:1002:503:414:9754:14523 . . . 0/1:-389.964,0,-564.789:735:366:308:7802:10756 . . . . . . . . . . . 1/1:-1383.27,-215.297,0:916:23:785:19442:532 1/1:-1131.27,-145.771,0:819:39:677:16561:986 . . . . . . . . . . . . . . . 0/1:-495.613,0,-710.801:985:474:421:10532:13615 . 0/1:-536.585,0,-851.274:1136:562:460:11304:16677 0/1:-395.453,0,-587.641:787:381:340:8355:11118 . 0/1:-573.276,0,-798.866:1171:535:520:12718:15436 0/1:-360.431,0,-773.146:875:475:339:8440:14410 . . . 0/1:-406.908,0,-639.619:869:431:370:9142:12754 0/1:-402.766,0,-578.957:855:421:376:9157:12192 . . . . . . 0/1:-581.737,0,-788.145:1124:539:495:12569:15620 . . 0/1:-502.161,0,-750.88:1029:498:447:11048:14594 . . . 0/1:-414.647,0,-635.632:847:410:368:9069:12194 . . . . 0/1:-407.343,0,-654.178:870:438:369:9127:13000 . . . . . . . . . . . 0/1:-1025.15,0,-1079.06:1139:532:565:16069:16865:532,565 . . 0/1:-819.148,0,-1030.74:966:499:443:13084:15587:499,443 0/1:-1013.25,0,-1078.81:1123:540:543:15781:16605:540,543 1/1:-2473.63,-283.335,0:1102:15:1026:29344:373:15,1026 . . . . 1/1:-2252.46,-269.882,0:978:8:934:26803:200:8,934 . . 0/1:-675.156,0,-934.691:835:435:374:10785:13846:435,374 . chr19 47258899 . C T 2628.74 . AB=0.39823;ABP=64.0037;AC=1;AF=0.5;AN=2;AO=270;CIGAR=1X;DP=678;DPB=678;DPRA=0;EPP=20.0282;EPPR=3.22389;GTI=0;LEN=1;MEANALT=3;MQM=25.9259;MQMR=27.4016;NS=1;NUMALT=1;ODDS=605.29;PAIRED=0.87037;PAIREDR=0.857923;PAO=0;PQA=0;PQR=0;PRO=0;QA=6966;QR=10608;RO=366;RPL=160;RPP=23.1165;RPPR=3.6036;RPR=110;RUN=1;SAF=100;SAP=42.4185;SAR=170;SF=0;SRF=152;SRP=25.8167;SRR=214;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C192T:p.P64P,FKRP:NM_024301:exon4:c.C192T:p.P64P;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0001;1000g2015aug_all=0.0129792;avsnp147=rs111754012;Kaviar_AF=0.0040168;Kaviar_AC=621;Kaviar_AN=154602;ExAC_ALL=0.0055;ExAC_AFR=0.0597;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0073;ExAC_SAS=8.226e-05;CLNALLELEID=134502;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|Congenital_muscular_dystrophy-dystroglycanopathy_(with_or_without_mental_retardation)_type_B5|Congenital_muscular_dystrophy-dystroglycanopathy_with_brain_and_eye_anomalies_type_A5|not_specified;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0467;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0023;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0135;gnomAD_genome_AFR=0.0474;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-281.16,0,-523.986:678:366:270:6966:10608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47258956 . C T 2642.43 . AB=0.437008;ABP=20.5189;AC=4;AF=0.5;AN=8;AO=222;CIGAR=1X;DP=2588;DPB=508;DPRA=0;EPP=17.1347;EPPR=32.2296;GTI=0;LEN=1;MEANALT=3;MQM=24.8243;MQMR=24.864;NS=1;NUMALT=1;ODDS=497.376;PAIRED=0.756757;PAIREDR=0.808;PAO=0;PQA=0;PQR=0;PRO=0;QA=6016;QR=7751;RO=250;RPL=146;RPP=50.9392;RPPR=119.888;RPR=76;RUN=1;SAF=88;SAP=23.7078;SAR=134;SF=0;SRF=95;SRP=34.2795;SRR=155;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C249T:p.A83A,FKRP:NM_024301:exon4:c.C249T:p.A83A;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0134;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0134;1000g2015aug_all=0.0061901;avsnp147=rs149030303;Kaviar_AF=0.0091719;Kaviar_AC=1418;Kaviar_AN=154602;ExAC_ALL=0.0161;ExAC_AFR=0.0032;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0261;ExAC_NFE=0.0214;ExAC_OTH=0.0126;ExAC_SAS=0.0206;CLNALLELEID=102001;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0125;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0159;gnomAD_exome_NFE=0.0141;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0174;gnomAD_genome_ALL=0.0088;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0126;gnomAD_genome_NFE=0.0133;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-231.96,0,-324.069:508:250:222:6016:7751 . . . 0/1:-296.66,0,-435.598:709:357:314:7893:10882 . . . . . . . . . . . . 0/1:-449.032,0,-738.051:978:514:412:10450:16168 . . . . . . . . . . . . . . 0/1:-193.243,0,-278.888:393:195:179:4748:5990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47259048 . C G 3650.09 . AB=0.515244;ABP=4.33437;AC=4;AF=0.5;AN=8;AO=338;CIGAR=1X;DP=2167;DPB=656;DPRA=0;EPP=67.255;EPPR=40.7034;GTI=0;LEN=1;MEANALT=3;MQM=26.8402;MQMR=25.4007;NS=1;NUMALT=1;ODDS=884.767;PAIRED=0.893491;PAIREDR=0.889251;PAO=0;PQA=0;PQR=0;PRO=0;QA=9904;QR=9661;RO=307;RPL=128;RPP=46.2085;RPPR=17.3335;RPR=210;RUN=1;SAF=181;SAP=6.7108;SAR=157;SF=0;SRF=161;SRP=4.60177;SRR=146;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C341G:p.A114G,FKRP:NM_024301:exon4:c.C341G:p.A114G;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0106;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0106;1000g2015aug_all=0.0061901;avsnp147=rs143793528;Kaviar_AF=0.0057826;Kaviar_AC=894;Kaviar_AN=154602;ExAC_ALL=0.0224;ExAC_AFR=0.0052;ExAC_AMR=0.0215;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0384;ExAC_OTH=0;ExAC_SAS=0.0157;CLNALLELEID=102002;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.893;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-3.64;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_pred=N;VEST3_score=0.077;CADD_raw=0.398;CADD_phred=6.593;DANN_score=0.951;fathmm-MKL_coding_score=0.831;fathmm-MKL_coding_pred=D;MetaSVM_score=0.924;MetaSVM_pred=D;MetaLR_score=0.904;MetaLR_pred=D;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=4.79;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.870;phastCons7way_vertebrate=0.973;phastCons20way_mammalian=0.030;SiPhy_29way_logOdds=12.451;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Muscular_dystrophy,_congenital#11592034;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM013802#"Muscular_dystrophy_congenital";gnomAD_exome_ALL=0.0104;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0079;gnomAD_exome_ASJ=0.0177;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0063;gnomAD_exome_NFE=0.0148;gnomAD_exome_OTH=0.0154;gnomAD_exome_SAS=0.0092;gnomAD_genome_ALL=0.0087;gnomAD_genome_AFR=0.0035;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0100;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-463.662,0,-397.486:656:307:338:9904:9661 . . . . . . . . . . 0/1:-331.603,0,-241.682:432:178:245:7373:5629 . . . 0/1:-338.749,0,-296.579:504:237:265:7498:7336 . 0/1:-388.001,0,-400.036:575:266:305:8884:8583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 47259134 . C A 3431.40 . AB=0.470845;ABP=8.07496;AC=3;AF=0.5;AN=6;AO=323;CIGAR=1X;DP=1832;DPB=686;DPRA=0;EPP=20.4964;EPPR=58.5274;GTI=0;LEN=1;MEANALT=3;MQM=32.2291;MQMR=32.0312;NS=1;NUMALT=1;ODDS=827.12;PAIRED=0.894737;PAIREDR=0.807365;PAO=0;PQA=0;PQR=0;PRO=0;QA=7572;QR=9618;RO=353;RPL=135;RPP=21.8947;RPPR=39.4824;RPR=188;RUN=1;SAF=163;SAP=3.07081;SAR=160;SF=0;SRF=165;SRP=6.26443;SRR=188;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C427A:p.R143S,FKRP:NM_024301:exon4:c.C427A:p.R143S;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0036;esp6500siv2_ea=0.0049;esp6500siv2_all=0.0036;esp6500siv2_ea=0.0049;1000g2015aug_all=0.00259585;avsnp147=rs148206382;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;ExAC_ALL=0.0104;ExAC_AFR=0;ExAC_AMR=0.0395;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0173;ExAC_OTH=0.0588;ExAC_SAS=0.0077;CLNALLELEID=134503;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.576;SIFT_pred=T;Polyphen2_HDIV_score=0.18;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.977;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-4.04;FATHMM_pred=D;PROVEAN_score=-1.75;PROVEAN_pred=N;VEST3_score=0.769;CADD_raw=1.067;CADD_phred=11.04;DANN_score=0.967;fathmm-MKL_coding_score=0.674;fathmm-MKL_coding_pred=D;MetaSVM_score=0.868;MetaSVM_pred=D;MetaLR_score=0.899;MetaLR_pred=D;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=3.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.870;phastCons7way_vertebrate=0.940;phastCons20way_mammalian=0.395;SiPhy_29way_logOdds=9.116;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Muscular_dystrophy,_limb_girdle#11741828;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM013803#"Muscular_dystrophy_limb_girdle";gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0068;gnomAD_exome_OTH=0.0056;gnomAD_exome_SAS=0.0037;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-370.722,0,-526.921:686:353:323:7572:9618 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-352.165,0,-368.293:552:259:282:7148:7354 . . . . . . . . . . . . . . . . . . . . . 0/1:-347.352,0,-420.774:594:292:291:7165:8104 . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49661112 . G A 4126.82 . AB=0.455714;ABP=14.9348;AC=52;AF=0.5;AN=96;AO=319;CIGAR=1X;DP=37090;DPB=700;DPRA=0;EPP=7.97269;EPPR=12.1572;GTI=0;LEN=1;MEANALT=3;MQM=24.8025;MQMR=25.9477;NS=1;NUMALT=1;ODDS=622.404;PAIRED=0.780564;PAIREDR=0.796923;PAO=0;PQA=0;PQR=0;PRO=0;QA=7620;QR=9834;RO=325;RPL=112;RPP=64.4446;RPPR=13.1728;RPR=207;RUN=1;SAF=180;SAP=14.4531;SAR=139;SF=0,1;SRF=209;SRP=60.7982;SRR=116;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=TRPM4;GeneDetail.refGene=NM_017636:c.-12G>A,NM_001195227:c.-12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.150359;avsnp147=rs3760663;Kaviar_AF=0.0014877;Kaviar_AC=230;Kaviar_AN=154602;ExAC_ALL=0.2937;ExAC_AFR=0.0939;ExAC_AMR=0.2446;ExAC_EAS=0.0924;ExAC_FIN=0.3;ExAC_NFE=0.3171;ExAC_OTH=0.2202;ExAC_SAS=0.3207;CLNALLELEID=257190;CLNDN=not_specified|Progressive_familial_heart_block;CLNDISDB=MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2371;gnomAD_exome_AFR=0.0646;gnomAD_exome_AMR=0.1533;gnomAD_exome_ASJ=0.2879;gnomAD_exome_EAS=0.0573;gnomAD_exome_FIN=0.2691;gnomAD_exome_NFE=0.2925;gnomAD_exome_OTH=0.2539;gnomAD_exome_SAS=0.3068;gnomAD_genome_ALL=0.2071;gnomAD_genome_AFR=0.0695;gnomAD_genome_AMR=0.1651;gnomAD_genome_ASJ=0.2483;gnomAD_genome_EAS=0.0561;gnomAD_genome_FIN=0.2748;gnomAD_genome_NFE=0.2875;gnomAD_genome_OTH=0.2357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-285.729,0,-416.969:700:325:319:7620:9834 . 0/1:-288.958,0,-432.69:721:342:320:7811:10404 0/1:-448.02,0,-656.38:1038:487:463:11628:14554 . . 0/1:-339.17,0,-483.418:774:359:364:8825:10590 0/1:-434.911,0,-531.085:877:418:403:9828:12678 . 1/1:-1011.84,-168.194,0:795:38:657:16099:685 0/1:-257.534,0,-397.776:616:308:275:6717:9317 . 0/1:-237.084,0,-452.826:629:331:264:6633:9864 . . 0/1:-704.833,0,-1299.18:1795:913:751:18317:27075 0/1:-291.458,0,-571.732:720:389:289:7256:11722 . 0/1:-270.572,0,-438.851:583:294:257:6342:8990 . . . 0/1:-318.821,0,-533.912:784:380:348:8708:11338 . 0/1:-366.772,0,-589.786:880:440:379:9358:13382 1/1:-792.734,-115.159,0:627:42:516:12673:773 . . 0/1:-233.07,0,-557.726:636:355:257:6451:10934 . . . . 0/1:-361.327,0,-732.543:1006:532:412:9939:15846 0/1:-413.402,0,-618.264:904:431:411:10197:12891 0/1:-321.189,0,-500.472:720:362:309:7925:10930 . . 0/1:-332.467,0,-718.487:997:530:403:9698:15958 . 0/1:-302.598,0,-539.298:775:393:327:7728:11854 0/1:-305.926,0,-458.37:706:344:317:7715:10473 . 0/1:-249.21,0,-476.383:674:344:276:6973:10213 . . . . 0/1:-292.15,0,-619.51:876:469:348:8776:13983 . 1/1:-1305.89,-197.744,0:969:48:821:20478:817 . . 0/1:-253.931,0,-487.181:676:352:283:7029:10652 0/1:-287.48,0,-505.425:735:373:310:7474:11143 1/1:-517.1,-80.254,0:438:28:355:8374:450 . . . . . . . 0/1:-242.402,0,-602.068:757:419:282:7012:12248 0/1:-157.784,0,-261.077:386:194:172:4265:5902 . 0/1:-276.274,0,-405.109:587:285:267:6546:8745 . . . . . 0/1:-281.368,0,-379.177:566:253:265:6820:7806 0/1:-331.686,0,-495.792:803:385:358:8786:11362 . . . . 0/1:-332.835,0,-450.244:764:369:343:8370:11081 0/1:-302.344,0,-515.939:792:408:338:8262:12359 . 0/1:-328.991,0,-491.298:756:369:331:8061:10894 0/1:-230.49,0,-397.022:591:298:246:6182:9091 0/1:-286.566,0,-395.132:625:287:289:7166:8795 . 0/1:-245.213,0,-439.071:656:341:275:6873:10135 0/1:-148.391,0,-341.545:432:231:179:4159:6964 . . . 0/1:-393.457,0,-801.297:1026:550:414:10237:16858 . 0/1:-253.507,0,-632.009:833:452:322:7647:13405 . . 0/1:-699.188,0,-891.212:869:447:399:11745:13977:447,399 . 0/1:-432.906,0,-479.665:478:235:239:6979:7584:235,239 . . . . . . 0/1:-711.918,0,-878.899:891:444:419:12227:14283:444,419 0/1:-541.128,0,-681.152:668:339:310:9076:10654:339,310 . . 0/1:-1004.3,0,-1224.23:1166:581:551:16507:18907:581,551 0/1:-867.277,0,-717.047:867:377:465:13656:11940:377,465 0/1:-820.764,0,-859.814:926:433:470:13547:13810:433,470 . . . chr19 49661545 . AGA AGG,CGA 1612.27 . AB=0;ABP=0;AC=2,0;AF=1;AN=8;AO=207;CIGAR=2M1X;DP=1029;DPB=243.667;DPRA=0;EPP=15.8608;EPPR=7.35324;GTI=0;LEN=1;MEANALT=9;MQM=37.686;MQMR=32.5;NS=1;NUMALT=1;ODDS=185.771;PAIRED=0.961353;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6114;QR=67;RO=2;RPL=162;RPP=146.611;RPPR=7.35324;RPR=45;RUN=1;SAF=76;SAP=34.7432;SAR=131;SF=1;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0650;dpsi_zscore=-0.328;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-505.287,-57.9477,0,.,.,.:243:2:207,.:6114,.:67:2,207 . . 0/0:.,.,.,.,.,-527.879:243:225:.,15:.,314:6438:225,15 . . . . . . 0/0:.,.,.,.,.,-534.745:248:230:.,18:.,308:6710:230,18 . . . 0/0:.,.,.,.,.,-657.787:295:278:.,15:.,328:8199:278,15 chr19 49661547 . A G,C 1895.93 . AB=0.490566;ABP=3.21516;AC=37,0;AF=0.5;AN=72;AO=130;CIGAR=1X;DP=11291;DPB=265;DPRA=0;EPP=9.69175;EPPR=7.66346;GTI=0;LEN=1;MEANALT=3;MQM=24.5692;MQMR=27.9524;NS=1;NUMALT=1;ODDS=238.444;PAIRED=0.846154;PAIREDR=0.942857;PAO=0;PQA=0;PQR=0;PRO=0;QA=3204;QR=2713;RO=105;RPL=93;RPP=55.3929;RPPR=61.1024;RPR=37;RUN=1;SAF=38;SAP=51.7181;SAR=92;SF=0,1;SRF=34;SRP=31.3222;SRR=71;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.1931;esp6500siv2_ea=0.1345;esp6500siv2_all=0.1931;esp6500siv2_ea=0.1345;1000g2015aug_all=0.223642;avsnp147=rs11882563;Kaviar_AF=0.173814;Kaviar_AC=26872;Kaviar_AN=154602;ExAC_ALL=0.1807;ExAC_AFR=0.3083;ExAC_AMR=0.3488;ExAC_EAS=0.2348;ExAC_FIN=0.1455;ExAC_NFE=0.1388;ExAC_OTH=0.1478;ExAC_SAS=0.1398;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1029;dpsi_zscore=0.492;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1832;gnomAD_exome_AFR=0.3106;gnomAD_exome_AMR=0.3365;gnomAD_exome_ASJ=0.1371;gnomAD_exome_EAS=0.2296;gnomAD_exome_FIN=0.1471;gnomAD_exome_NFE=0.1361;gnomAD_exome_OTH=0.1780;gnomAD_exome_SAS=0.1396;gnomAD_genome_ALL=0.1929;gnomAD_genome_AFR=0.3070;gnomAD_genome_AMR=0.3050;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.2282;gnomAD_genome_FIN=0.1411;gnomAD_genome_NFE=0.1317;gnomAD_genome_OTH=0.1680;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0136;dpsi_zscore=-0.062;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-132.242,0,-120.093,.,.,.:265:105:130,.:3204,.:2713 . 0/1:-148.397,0,-189.941,.,.,.:334:159:131,.:3393,.:4027 . 0/1:-150.036,0,-105.498,.,.,.:235:93:118,.:3051,.:2293 0/1:-166.593,0,-215.451,.,.,.:384:172:160,.:3866,.:4148 . 0/1:-178.887,0,-211.625,.,.,.:374:167:157,.:4018,.:4350 . . . 0/1:-117.625,0,-96.9944,.,.,.:234:103:106,.:2575,.:2594 . . . . . 0/1:-113.371,0,-127.741,.,.,.:233:104:105,.:2589,.:2623 0/1:-107.944,0,-172.19,.,.,.:254:125:97,.:2420,.:3412 . . 0/1:-259.491,0,-223.964,.,.,.:436:192:205,.:5186,.:4972 . 1/1:-448.423,-81.5999,0,.,.,.:303:4:281,.:6882,.:91 . . 0/1:-90.4082,0,-101.346,.,.,.:209:93:92,.:2137,.:2310 0/1:-149.043,0,-116.428,.,.,.:254:105:129,.:3107,.:2702 . . 0/1:-189.628,0,-254.009,.,.,.:428:198:176,.:4187,.:5283 0/1:-142.74,0,-160.043,.,.,.:327:142:148,.:3419,.:3464 0/1:-177.093,0,-241.575,.,.,.:376:173:166,.:4037,.:4805 . . . . . . . . . . . 0/1:-226.894,0,-175.695,.,.,.:359:144:181,.:4608,.:3843 . . . . . . . . . . . . 0/1:-174.175,0,-197.377,.,.,.:374:154:170,.:4190,.:4211 . . . . 0/1:-236.672,0,-304.636,.,.,.:472:222:208,.:5175,.:5931 . . . 0/1:-179.738,0,-204.779,.,.,.:357:165:151,.:3782,.:4187 0/1:-176.343,0,-169.69,.,.,.:327:141:145,.:3494,.:3586 1/1:-466.697,-73.6616,0,.,.,.:311:11:280,.:6752,.:224 1/1:-654.259,-106.71,0,.,.,.:410:11:380,.:9108,.:267 0/1:-200.107,0,-202.634,.,.,.:388:165:175,.:4282,.:4193 . . . . . . . 0/1:-170.986,0,-185.486,.,.,.:326:153:140,.:3556,.:3934 . . 0/1:-173.351,0,-145.959,.,.,.:314:132:145,.:3545,.:3401 . . 0/1:-102.043,0,-153.651,.,.,.:232:110:98,.:2476,.:2880 . . 0/1:-116.516,0,-167.722,.,.,.:280:141:110,.:2715,.:3567 . 0/1:-152.333,0,-165.337,.,.,.:310:144:134,.:3266,.:3635 . . . . . . 0/1:-242.605,0,-242.721,.,.,.:264:127:129,.:3843,.:3762:127,129 . . . 1/1:-543.298,-57.961,0,.,.,.:234:6:224,.:6711,.:164:6,224 . 0/1:-230.788,0,-232.577,.,.,.:243:122:114,.:3457,.:3518:122,114 0/0:0,.,.,-60.4984,.,-672.38:321:294:.,22:.,402:8500:294,22 . . . . 0/0:0,.,.,-64.4302,.,-683.495:310:287:.,20:.,329:8477:287,20 0/0:0,.,.,-38.6323,.,-502.5:248:221:.,25:.,418:6515:221,25 0/1:-272.566,0,-204.458,.,.,.:270:119:140,.:4104,.:3377:119,140 . . 0/1:-247.315,0,-259.982,.,.,.:295:149:138,.:4128,.:4062:149,138 chr19 49661580 . GGT GGC 3678.99 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=136;CIGAR=2M1X;DP=323;DPB=142;DPRA=0;EPP=7.09778;EPPR=5.18177;GTI=0;LEN=1;MEANALT=4;MQM=37.1838;MQMR=42;NS=1;NUMALT=1;ODDS=190.453;PAIRED=0.963235;PAIREDR=1;PAO=1.5;PQA=39;PQR=39;PRO=1.5;QA=4142;QR=26;RO=1;RPL=100;RPP=68.4099;RPPR=5.18177;RPR=36;RUN=1;SAF=24;SAP=126.656;SAR=112;SF=1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-338.006,-40.7052,0:141:1:136:4142:26:1,136 . . 1/1:-445.129,-52.9813,0:182:0:176:5385:0:0,176 . . . . . . . . . . chr19 49661581 . GT GC 4142.12 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=171;CIGAR=1M1X;DP=179;DPB=179.5;DPRA=0;EPP=3.32777;EPPR=0;GTI=0;LEN=1;MEANALT=5;MQM=37.4678;MQMR=0;NS=1;NUMALT=1;ODDS=243.048;PAIRED=0.935673;PAIREDR=0;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=5334;QR=0;RO=0;RPL=121;RPP=67.0243;RPPR=0;RPR=50;RUN=1;SAF=33;SAP=143.013;SAR=138;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-439.394,-52.0782,0:179:0:171:5334:0:0,171 . . . . . . . . . . . . chr19 49661582 . TCA CCA,GCA 2587.97 . AB=0.490566;ABP=3.13321;AC=179,0;AF=0.5;AN=220;AO=78;CIGAR=1X;DP=22714;DPB=159;DPRA=0;EPP=4.79202;EPPR=3.14602;GTI=0;LEN=1;MEANALT=3;MQM=27.4615;MQMR=28.4375;NS=1;NUMALT=1;ODDS=91.6269;PAIRED=0.935897;PAIREDR=0.96875;PAO=0;PQA=0;PQR=0;PRO=0;QA=2124;QR=1402;RO=64;RPL=50;RPP=16.4846;RPPR=33.5466;RPR=28;RUN=1;SAF=15;SAP=67.1523;SAR=63;SF=0,1;SRF=14;SRP=46.9826;SRR=50;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.7795;esp6500siv2_ea=0.8564;esp6500siv2_all=0.7795;esp6500siv2_ea=0.8564;1000g2015aug_all=0.599441;avsnp147=rs3760664;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0155;dpsi_zscore=-0.075;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7542;gnomAD_genome_AFR=0.6027;gnomAD_genome_AMR=0.7343;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.3371;gnomAD_genome_FIN=0.8593;gnomAD_genome_NFE=0.8580;gnomAD_genome_OTH=0.8207;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1107;dpsi_zscore=0.515;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-53.2956,.,.,.:159:64:78,.:2124,.:1402 1/1:.,.,0,.,.,.:281:2:271,.:7373,.:28 1/1:.,.,0,.,.,.:166:0:162,.:4424,.:0 0/1:.,.,-72.5785,.,.,.:145:66:61,.:1724,.:1545 1/1:.,.,0,.,.,.:196:2:188,.:5358,.:50 1/1:.,.,0,.,.,.:259:3:250,.:7032,.:42 1/1:.,.,0,.,.,.:142:2:136,.:3827,.:28 1/1:.,.,0,.,.,.:263:4:254,.:7135,.:82 0/1:.,.,-66.4944,.,.,.:208:75:112,.:3137,.:1636 1/1:.,.,0,.,.,.:228:0:225,.:6238,.:0 1/1:.,.,0,.,.,.:205:1:198,.:5354,.:14 1/1:.,.,0,.,.,.:185:2:179,.:4994,.:57 0/1:.,.,-86.7685,.,.,.:187:75:101,.:2608,.:1966 1/1:.,.,0,.,.,.:153:1:142,.:3914,.:27 1/1:.,.,0,.,.,.:162:2:158,.:4189,.:41 0/1:.,.,-148.354,.,.,.:291:123:142,.:3915,.:3107 0/1:.,.,-62.2217,.,.,.:151:62:73,.:1995,.:1552 0/1:.,.,-218.867,.,.,.:452:203:203,.:5616,.:4781 1/1:.,.,0,.,.,.:174:3:167,.:4710,.:95 1/1:.,.,0,.,.,.:139:1:134,.:3718,.:14 1/1:.,.,0,.,.,.:163:0:155,.:4263,.:0 0/1:.,.,-81.4173,.,.,.:248:93:131,.:3770,.:2114 1/1:.,.,0,.,.,.:134:1:129,.:3722,.:14 0/1:.,.,-122.774,.,.,.:258:104:127,.:3478,.:2644 1/1:.,.,0,.,.,.:248:3:238,.:6813,.:99 1/1:.,.,0,.,.,.:192:0:187,.:4981,.:0 0/1:.,.,-111.806,.,.,.:268:110:139,.:3728,.:2654 1/1:.,.,0,.,.,.:204:3:195,.:5550,.:82 1/1:.,.,0,.,.,.:135:0:131,.:3475,.:0 1/1:.,.,0,.,.,.:158:1:153,.:4353,.:14 1/1:.,.,0,.,.,.:188:4:178,.:4929,.:96 1/1:.,.,0,.,.,.:225:1:216,.:6045,.:27 1/1:.,.,0,.,.,.:268:0:253,.:7314,.:0 1/1:.,.,0,.,.,.:241:1:232,.:6155,.:14 1/1:.,.,0,.,.,.:219:0:212,.:5950,.:0 1/1:.,.,0,.,.,.:245:0:238,.:6648,.:0 0/1:.,.,-150.851,.,.,.:321:146:148,.:4047,.:3445 1/1:.,.,0,.,.,.:171:0:164,.:4855,.:0 0/1:.,.,-116.791,.,.,.:252:108:113,.:3153,.:2608 1/1:.,.,0,.,.,.:180:0:172,.:4753,.:0 1/1:.,.,0,.,.,.:239:2:225,.:6593,.:35 0/1:.,.,-86.7262,.,.,.:257:95:141,.:3818,.:2172 1/1:.,.,0,.,.,.:264:0:253,.:6993,.:0 1/1:.,.,0,.,.,.:220:1:209,.:5660,.:14 0/1:.,.,-133.609,.,.,.:303:129:145,.:3944,.:2990 0/1:.,.,-98.5101,.,.,.:237:100:112,.:3025,.:2265 0/1:.,.,-70.9714,.,.,.:212:81:119,.:3270,.:1947 0/1:.,.,-27.1992,.,.,.:148:42:94,.:2545,.:1048 0/1:.,.,-95.876,.,.,.:165:77:70,.:1949,.:1939 0/1:.,.,-99.034,.,.,.:229:98:109,.:2968,.:2499 1/1:.,.,0,.,.,.:253:2:242,.:6919,.:28 1/1:.,.,0,.,.,.:165:0:159,.:4540,.:0 1/1:.,.,0,.,.,.:235:1:229,.:6520,.:14 1/1:.,.,0,.,.,.:272:6:256,.:7142,.:141 0/1:.,.,-63.4059,.,.,.:150:58:76,.:1938,.:1470 0/1:.,.,-56.8297,.,.,.:198:65:111,.:2872,.:1557 1/1:.,.,0,.,.,.:246:1:233,.:6557,.:14 1/1:.,.,0,.,.,.:109:0:102,.:2789,.:0 0/1:.,.,-48.7996,.,.,.:169:54:101,.:2653,.:1217 1/1:.,.,0,.,.,.:246:4:235,.:6596,.:69 1/1:.,.,0,.,.,.:131:0:128,.:3545,.:0 1/1:.,.,0,.,.,.:285:1:278,.:7218,.:14 1/1:.,.,0,.,.,.:230:0:221,.:5915,.:0 0/1:.,.,-44.5416,.,.,.:138:50:77,.:2035,.:1184 1/1:.,.,0,.,.,.:263:1:251,.:7136,.:36 1/1:.,.,0,.,.,.:256:3:245,.:6682,.:73 1/1:.,.,0,.,.,.:118:1:113,.:3173,.:14 1/1:.,.,0,.,.,.:208:1:200,.:5517,.:32 1/1:.,.,0,.,.,.:239:1:230,.:6375,.:14 0/1:.,.,-70.0872,.,.,.:212:83:112,.:3063,.:1862 1/1:.,.,0,.,.,.:194:0:187,.:5019,.:0 1/1:.,.,0,.,.,.:241:0:233,.:6757,.:0 1/1:.,.,0,.,.,.:257:4:242,.:6574,.:56 1/1:.,.,0,.,.,.:129:0:124,.:3262,.:0 0/1:.,.,-48.9326,.,.,.:172:54:106,.:2973,.:1336 1/1:.,.,0,.,.,.:282:0:277,.:7751,.:0 1/1:.,.,0,.,.,.:233:1:224,.:6364,.:14 1/1:.,.,0,.,.,.:262:2:253,.:7267,.:50 1/1:.,.,0,.,.,.:174:1:167,.:4657,.:27 1/1:.,.,0,.,.,.:127:1:121,.:3455,.:14 1/1:.,.,0,.,.,.:210:2:201,.:5616,.:28 0/1:.,.,-117.796,.,.,.:304:117:164,.:4676,.:2836 0/1:.,.,-87.9406,.,.,.:278:103:150,.:4084,.:2360 1/1:.,.,0,.,.,.:210:2:201,.:5596,.:28 0/1:.,.,-111.146,.,.,.:239:99:119,.:3092,.:2309 1/1:.,.,0,.,.,.:223:1:217,.:6178,.:14 1/1:.,.,0,.,.,.:139:1:130,.:3903,.:36 1/1:.,.,0,.,.,.:231:0:223,.:6394,.:0 1/1:.,.,0,.,.,.:141:0:136,.:3788,.:0 1/1:.,.,0,.,.,.:163:5:153,.:4309,.:117 0/1:.,.,-144.557,.,.,.:257:116:121,.:3553,.:2815 1/1:.,.,0,.,.,.:210:3:201,.:5537,.:60 1/1:.,.,0,.,.,.:304:1:291,.:8214,.:21 0/1:.,.,-115.265,.,.,.:283:117:137,.:3924,.:2730 1/1:.,.,0,.,.,.:257:0:250,.:6971,.:0 . 1/1:.,.,0,.,.,.:189:1:184,.:5715,.:36:1,184 0/0:.,.,.,.,.,-318.02:164:148:.,12:.,181:4068:148,12 1/1:.,.,0,.,.,.:161:0:157,.:4967,.:0:0,157 0/1:.,.,-68.183,.,.,.:111:43:63,.:1994,.:1193:43,63 0/0:.,.,.,.,.,-275.167:138:124:.,11:.,192:3530:124,11 1/1:-333.594,-41.2265,0,.,.,.:147:1:134,.:3893,.:14:1,134 . . 0/1:.,.,-145.317,.,.,.:147:78:64,.:2014,.:2226:78,64 . 0/1:.,.,-113.642,.,.,.:175:74:95,.:2948,.:2041:74,95 0/1:.,.,-104.392,.,.,.:143:62:76,.:2354,.:1738:62,76 1/1:.,.,0,.,.,.:142:0:140,.:4235,.:0:0,140 . 1/1:.,.,0,.,.,.:183:2:179,.:5710,.:46:2,179 0/1:.,.,-110.058,.,.,.:166:67:92,.:2925,.:1935:67,92 0/1:.,.,-94.1949,.,.,.:149:60:87,.:2737,.:1695:60,87 0/1:.,.,-150.992,.,.,.:154:82:67,.:2101,.:2281:82,67 . 1/1:.,.,0,.,.,.:164:2:161,.:5036,.:41:2,161 chr19 49669447 . CGGGGGC CGGGGGGC 2667.91 . AB=0.422487;ABP=33.644;AC=1;AF=0.5;AN=2;AO=248;CIGAR=1M1I6M;DP=587;DPB=639.571;DPRA=0;EPP=3.32551;EPPR=3.5662;GTI=0;LEN=1;MEANALT=51;MQM=27.4315;MQMR=30.9;NS=1;NUMALT=1;ODDS=614.309;PAIRED=0.862903;PAIREDR=0.792;PAO=13.5;PQA=282;PQR=282;PRO=13.5;QA=5268;QR=7586;RO=250;RPL=135;RPP=7.24817;RPPR=6.48466;RPR=113;RUN=1;SAF=138;SAP=9.87495;SAR=110;SF=0;SRF=122;SRP=3.32299;SRR=128;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=TRPM4:NM_001195227:exon3:c.243dupG:p.T81fs,TRPM4:NM_017636:exon3:c.243dupG:p.T81fs;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs754625848;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=9.35e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=510801;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.364e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=6.192e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.83e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.835e-05;gnomAD_genome_ALL=9.719e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-275.266,0,-390.39:587:250:248:5268:7586 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49669486 . C G 3537.86 . AB=0.471545;ABP=7.33559;AC=3;AF=0.5;AN=6;AO=290;CIGAR=1X;DP=1974;DPB=615;DPRA=0;EPP=17.5068;EPPR=22.1315;GTI=0;LEN=1;MEANALT=3;MQM=27.2793;MQMR=29.7304;NS=1;NUMALT=1;ODDS=689.671;PAIRED=0.844828;PAIREDR=0.871473;PAO=0;PQA=0;PQR=0;PRO=0;QA=7614;QR=9606;RO=319;RPL=219;RPP=167.024;RPPR=102.673;RPR=71;RUN=1;SAF=124;SAP=16.2188;SAR=166;SF=0,1;SRF=117;SRP=52.1918;SRR=202;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0211;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0211;esp6500siv2_ea=0.0026;1000g2015aug_all=0.0319489;avsnp147=rs113040724;Kaviar_AF=0.0104074;Kaviar_AC=1609;Kaviar_AN=154602;ExAC_ALL=0.0206;ExAC_AFR=0.0990;ExAC_AMR=0.0216;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=0.0036;ExAC_OTH=0.0063;ExAC_SAS=0.0458;CLNALLELEID=334051;CLNDN=not_specified|Progressive_familial_heart_block;CLNDISDB=MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7941;dpsi_zscore=-1.339;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0112;gnomAD_exome_AFR=0.0740;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0073;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=5.686e-05;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0324;gnomAD_genome_ALL=0.0197;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-327.205,0,-486.094:615:319:290:7614:9606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-468.937,0,-524.659:487:244:238:7275:7904:244,238 . . . . . . . . . . . . . . . 0/1:-823.157,0,-952.5:872:443:421:12899:14421:443,421 chr19 49671207 . G A 2105.34 . AB=0.344011;ABP=154.759;AC=3;AF=0.5;AN=6;AO=247;CIGAR=1X;DP=2335;DPB=718;DPRA=0;EPP=44.8661;EPPR=13.0198;GTI=0;LEN=1;MEANALT=3;MQM=20.1822;MQMR=25.1571;NS=1;NUMALT=1;ODDS=318.147;PAIRED=0.753036;PAIREDR=0.683333;PAO=0;PQA=0;PQR=0;PRO=0;QA=6799;QR=12672;RO=420;RPL=88;RPP=47.3277;RPPR=22.8844;RPR=159;RUN=1;SAF=162;SAP=55.1344;SAR=85;SF=0;SRF=229;SRP=10.476;SRR=191;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G301A:p.A101T,TRPM4:NM_017636:exon4:c.G301A:p.A101T;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0187;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0187;1000g2015aug_all=0.0159744;avsnp147=rs113984787;Kaviar_AF=0.0197151;Kaviar_AC=3048;Kaviar_AN=154602;ExAC_ALL=0.0211;ExAC_AFR=0.0145;ExAC_AMR=0.0076;ExAC_EAS=0.0002;ExAC_FIN=0.0358;ExAC_NFE=0.0222;ExAC_OTH=0.0253;ExAC_SAS=0.0352;CLNALLELEID=222811;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.358;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.99;MutationAssessor_pred=N;FATHMM_score=4.12;FATHMM_pred=T;PROVEAN_score=0.7;PROVEAN_pred=N;VEST3_score=0.026;CADD_raw=0.454;CADD_phred=7.068;DANN_score=0.954;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.895;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=2.27;phyloP7way_vertebrate=-0.804;phyloP20way_mammalian=-0.166;phastCons7way_vertebrate=0.357;phastCons20way_mammalian=0.892;SiPhy_29way_logOdds=7.937;GDI_full_10282015=.;dpsi_max_tissue=-0.1062;dpsi_zscore=-0.468;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.614e-05;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=2.801e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0094;gnomAD_genome_AFR=0.0062;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0137;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0114;gnomAD_genome_OTH=0.0118;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-169.384,0,-585.481:718:420:247:6799:12672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-329.751,0,-890.304:1085:606:401:11095:18382 . . . . . . . . . . . . . . . . 0/1:-218.267,0,-425.508:532:295:200:5845:9007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49671212 . T G 3433.27 . AB=0.430025;ABP=36.4388;AC=3;AF=0.5;AN=6;AO=338;CIGAR=1X;DP=2552;DPB=786;DPRA=0;EPP=21.7441;EPPR=14.7546;GTI=0;LEN=1;MEANALT=3;MQM=19.9852;MQMR=24.9836;NS=1;NUMALT=1;ODDS=563.289;PAIRED=0.763314;PAIREDR=0.676056;PAO=0;PQA=0;PQR=0;PRO=0;QA=9194;QR=11721;RO=426;RPL=116;RPP=75.1957;RPPR=17.8742;RPR=222;RUN=1;SAF=216;SAP=59.777;SAR=122;SF=0;SRF=235;SRP=12.8788;SRR=191;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.T306G:p.V102V,TRPM4:NM_017636:exon4:c.T306G:p.V102V;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0187;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0187;1000g2015aug_all=0.0159744;avsnp147=rs111783027;Kaviar_AF=0.0031242;Kaviar_AC=483;Kaviar_AN=154602;ExAC_ALL=0.0211;ExAC_AFR=0.0145;ExAC_AMR=0.0076;ExAC_EAS=0.0002;ExAC_FIN=0.0358;ExAC_NFE=0.0222;ExAC_OTH=0.0253;ExAC_SAS=0.0352;CLNALLELEID=222812;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.6782;dpsi_zscore=1.854;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.879e-05;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=1.867e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0094;gnomAD_genome_AFR=0.0062;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0137;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0113;gnomAD_genome_OTH=0.0118;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-269.394,0,-518.326:786:426:338:9194:11721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-540.748,0,-773.218:1193:603:560:15519:17062 . . . . . . . . . . . . . . . . 0/1:-289.513,0,-363.473:573:294:259:7218:8092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49671251 . G A 4500.63 . AB=0.445565;ABP=28.5426;AC=1;AF=0.5;AN=2;AO=442;CIGAR=1X;DP=992;DPB=992;DPRA=0;EPP=39.3456;EPPR=76.5106;GTI=0;LEN=1;MEANALT=3;MQM=25.5204;MQMR=25.0888;NS=1;NUMALT=1;ODDS=1036.31;PAIRED=0.726244;PAIREDR=0.717949;PAO=0;PQA=0;PQR=0;PRO=0;QA=11417;QR=14595;RO=507;RPL=277;RPP=64.6369;RPPR=46.701;RPR=165;RUN=1;SAF=231;SAP=4.97543;SAR=211;SF=0;SRF=260;SRP=3.73412;SRR=247;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G345A:p.P115P,TRPM4:NM_017636:exon4:c.G345A:p.P115P;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750991001;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.652e-05;ExAC_AFR=9.666e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.504e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6688;dpsi_zscore=-1.244;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.033e-05;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.794e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-468.94,0,-622.531:992:507:442:11417:14595 . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49671279 . TCG TCA,GCG 1389.63 . AB=0;ABP=0;AC=2,0;AF=0;AN=40;AO=137;CIGAR=1X;DP=15070;DPB=960;DPRA=0;EPP=41.0665;EPPR=97.7616;GTI=0;LEN=1;MEANALT=3;MQM=33.7883;MQMR=36.6111;NS=1;NUMALT=1;ODDS=565.381;PAIRED=0.832117;PAIREDR=0.838272;PAO=0;PQA=0;PQR=0;PRO=0;QA=2354;QR=21874;RO=810;RPL=50;RPP=24.7092;RPPR=294.953;RPR=87;RUN=1;SAF=10;SAP=219.983;SAR=127;SF=1;SRF=459;SRP=34.2795;SRR=351;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=TRPM4:NM_001195227:exon4:c.375delG:p.S125fs,TRPM4:NM_017636:exon4:c.375delG:p.S125fs\x3bTRPM4:NM_001195227:exon4:c.375delG:p.S125fs,TRPM4:NM_017636:exon4:c.375delG:p.S125fs;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.176e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.614e-05;gnomAD_exome_NFE=9.024e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.T373G:p.S125A,TRPM4:NM_017636:exon4:c.T373G:p.S125A;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.493;SIFT_pred=T;Polyphen2_HDIV_score=0.716;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.345;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.29;MutationAssessor_pred=N;FATHMM_score=5.2;FATHMM_pred=T;PROVEAN_score=-0.03;PROVEAN_pred=N;VEST3_score=0.144;CADD_raw=2.542;CADD_phred=19.74;DANN_score=0.754;fathmm-MKL_coding_score=0.431;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.370;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.33;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.672;phastCons20way_mammalian=0.712;SiPhy_29way_logOdds=8.817;GDI_full_10282015=.;dpsi_max_tissue=-0.6610;dpsi_zscore=-1.238;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-1596.93:960:810:.,137:.,2354:21874:810,137 0/0:.,.,.,.,.,-1389.96:766:668:.,83:.,1605:18398:668,83 0/0:.,.,.,.,.,-1572.33:853:756:.,82:.,1545:20626:756,82 0/0:.,.,.,.,.,-926.606:540:466:.,63:.,1086:12742:466,63 0/0:.,.,.,.,.,-1016.14:617:511:.,92:.,1543:13953:511,92 0/0:.,.,.,.,.,-1277.3:755:643:.,90:.,1457:17281:643,90 0/0:.,.,.,.,.,-1114:653:555:.,77:.,1276:14833:555,77 0/0:.,.,.,.,.,-1216.18:744:628:.,101:.,1657:16792:628,101 0/0:.,.,.,.,.,-1319.63:744:639:.,99:.,1669:17581:639,99 0/0:.,.,.,.,.,-1825.9:1035:902:.,93:.,1867:24116:902,93 0/0:.,.,.,.,.,-1393.82:804:708:.,85:.,1655:18827:708,85 0/0:.,.,.,.,.,-1004.56:602:516:.,79:.,1304:13487:516,79 0/0:.,.,.,.,.,-1176.92:719:608:.,94:.,1640:16046:608,94 0/0:.,.,.,.,.,-961.474:617:504:.,96:.,1622:13698:504,96 0/0:.,.,.,.,.,-1480.66:917:765:.,133:.,2217:20209:765,133 1/1:-1578.72,-202.894,0,.,.,.:772:0:652,.:19279,.:0:0,652 0/0:.,.,.,.,.,-1486.74:801:707:.,78:.,1512:19548:707,78 0/0:.,.,.,.,.,-984.593:578:494:.,70:.,1144:13106:494,70 0/0:.,.,.,.,.,-1117.08:661:563:.,86:.,1475:15033:563,86 0/0:.,.,.,.,.,-1577.24:932:801:.,118:.,1988:21684:801,118 chr19 49671280 . CG CA 7305.69 . AB=0.494751;ABP=3.19268;AC=5;AF=0.5;AN=10;AO=377;CIGAR=1M1X;DP=4214;DPB=764;DPRA=0;EPP=8.54554;EPPR=15.2311;GTI=0;LEN=1;MEANALT=7;MQM=36.5305;MQMR=36.9738;NS=1;NUMALT=1;ODDS=1408.37;PAIRED=0.867374;PAIREDR=0.834302;PAO=2;PQA=64;PQR=64;PRO=2;QA=11187;QR=10312;RO=344;RPL=283;RPP=208.759;RPPR=106.433;RPR=94;RUN=1;SAF=194;SAP=3.70724;SAR=183;SF=1;SRF=178;SRP=3.91929;SRR=166;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=TRPM4:NM_001195227:exon4:c.375delG:p.S125fs,TRPM4:NM_017636:exon4:c.375delG:p.S125fs\x3bTRPM4:NM_001195227:exon4:c.375delG:p.S125fs,TRPM4:NM_017636:exon4:c.375delG:p.S125fs;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.176e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.614e-05;gnomAD_exome_NFE=9.024e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-701.528,0,-631.478:762:344:377:11187:10312:344,377 0/1:-784.284,0,-652.166:847:363:425:12339:11055:363,425 . . . . . . 0/1:-871.874,0,-843.333:1017:455:504:14026:13917:455,504 0/1:-744.991,0,-593.352:793:335:408:11630:10177:335,408 . . . . . 0/1:-729.587,0,-634.676:795:344:399:11453:10487:344,399 . . . chr19 49671281 . G A 3469.24 . AB=0.418293;ABP=50.5602;AC=10;AF=0.5;AN=20;AO=343;CIGAR=1X;DP=8272;DPB=820;DPRA=0;EPP=6.35931;EPPR=24.3963;GTI=0;LEN=1;MEANALT=3;MQM=27.0758;MQMR=25.0248;NS=1;NUMALT=1;ODDS=730.302;PAIRED=0.793003;PAIREDR=0.766749;PAO=0;PQA=0;PQR=0;PRO=0;QA=8223;QR=11734;RO=403;RPL=270;RPP=248.703;RPPR=225.055;RPR=73;RUN=1;SAF=179;SAP=4.43474;SAR=164;SF=0;SRF=229;SRP=19.3098;SRR=174;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G375A:p.S125S,TRPM4:NM_017636:exon4:c.G375A:p.S125S;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0551;esp6500siv2_ea=0.0423;esp6500siv2_all=0.0551;esp6500siv2_ea=0.0423;1000g2015aug_all=0.0910543;avsnp147=rs34333830;Kaviar_AF=0.060355;Kaviar_AC=9331;Kaviar_AN=154602;ExAC_ALL=0.0630;ExAC_AFR=0.0825;ExAC_AMR=0.0406;ExAC_EAS=0.1578;ExAC_FIN=0.0309;ExAC_NFE=0.0500;ExAC_OTH=0.0665;ExAC_SAS=0.0817;CLNALLELEID=334052;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2111;dpsi_zscore=-1.584;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0606;gnomAD_exome_AFR=0.0786;gnomAD_exome_AMR=0.0380;gnomAD_exome_ASJ=0.1158;gnomAD_exome_EAS=0.1568;gnomAD_exome_FIN=0.0311;gnomAD_exome_NFE=0.0456;gnomAD_exome_OTH=0.0613;gnomAD_exome_SAS=0.0794;gnomAD_genome_ALL=0.0585;gnomAD_genome_AFR=0.0793;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.1623;gnomAD_genome_FIN=0.0341;gnomAD_genome_NFE=0.0403;gnomAD_genome_OTH=0.0410;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-352.374,0,-501.417:820:403:343:8223:11734 . . . . . . . . . . . . 0/1:-364.979,0,-522.354:834:402:363:8977:11736 . 0/1:-512.741,0,-608.912:1022:483:454:11088:14093 . . . . . . 0/1:-296.859,0,-331.602:587:283:259:6434:8183 . . . . . 0/1:-543.116,0,-699.568:1171:568:504:12450:16089 . . 0/1:-349.683,0,-425.701:703:339:307:7375:9837 . . . . . . . . . . . . . . . 0/1:-271.727,0,-367.563:610:292:259:6229:8554 . . . . . . . . . . . . . 0/1:-309.034,0,-520.551:843:419:360:7990:12128 . . . . . . . . . . . . 0/1:-475.481,0,-500.384:903:402:431:10304:11656 . 0/1:-307.019,0,-432.489:779:387:329:7708:10956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49671503 . C T 4593.20 . AB=0.439055;ABP=28.9491;AC=1;AF=0.5;AN=2;AO=353;CIGAR=1X;DP=804;DPB=804;DPRA=0;EPP=34.0199;EPPR=18.2315;GTI=0;LEN=1;MEANALT=3;MQM=29.2635;MQMR=30.9856;NS=1;NUMALT=1;ODDS=1057.62;PAIRED=0.912181;PAIREDR=0.90625;PAO=0;PQA=0;PQR=0;PRO=0;QA=10065;QR=12699;RO=416;RPL=94;RPP=170.484;RPPR=161.048;RPR=259;RUN=1;SAF=212;SAP=34.0199;SAR=141;SF=0;SRF=252;SRP=43.4331;SRR=164;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0005;1000g2015aug_all=0.00938498;avsnp147=rs112328642;Kaviar_AF=0.0050323;Kaviar_AC=778;Kaviar_AN=154602;ExAC_ALL=0.0057;ExAC_AFR=0.0124;ExAC_AMR=0.0013;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0022;ExAC_SAS=0.0320;CLNALLELEID=507485;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2711;dpsi_zscore=1.672;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0048;gnomAD_exome_AFR=0.0120;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.857e-05;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0310;gnomAD_genome_ALL=0.0033;gnomAD_genome_AFR=0.0106;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-491.689,0,-685.207:804:416:353:10065:12699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49671507 . G A 3080.65 . AB=0.464548;ABP=7.47536;AC=2;AF=0.5;AN=4;AO=190;CIGAR=1X;DP=1222;DPB=409;DPRA=0;EPP=17.822;EPPR=22.755;GTI=0;LEN=1;MEANALT=3;MQM=31.7368;MQMR=31.7629;NS=1;NUMALT=1;ODDS=580.461;PAIRED=0.905263;PAIREDR=0.912371;PAO=0;PQA=0;PQR=0;PRO=0;QA=5169;QR=5796;RO=194;RPL=47;RPP=108.338;RPPR=110.509;RPR=143;RUN=1;SAF=120;SAP=31.5823;SAR=70;SF=0,1;SRF=126;SRP=40.6641;SRR=68;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0185;esp6500siv2_ea=0.0257;esp6500siv2_all=0.0185;esp6500siv2_ea=0.0257;1000g2015aug_all=0.0119808;avsnp147=rs78444754;Kaviar_AF=0.0203814;Kaviar_AC=3151;Kaviar_AN=154602;ExAC_ALL=0.0204;ExAC_AFR=0.0040;ExAC_AMR=0.0087;ExAC_EAS=0.0002;ExAC_FIN=0.0283;ExAC_NFE=0.0233;ExAC_OTH=0.0143;ExAC_SAS=0.0349;CLNALLELEID=243373;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.9885;dpsi_zscore=-1.898;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0203;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0091;gnomAD_exome_ASJ=0.0133;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0288;gnomAD_exome_NFE=0.0244;gnomAD_exome_OTH=0.0177;gnomAD_exome_SAS=0.0338;gnomAD_genome_ALL=0.0202;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0272;gnomAD_genome_NFE=0.0296;gnomAD_genome_OTH=0.0327;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-274.533,0,-320.091:409:194:190:5169:5796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-612.183,0,-874.314:813:433:361:10503:13477:433,361 . . . . . . . . . . . . chr19 49671815 . G A 3460.48 . AB=0.416537;ABP=41.7953;AC=1;AF=0.5;AN=2;AO=267;CIGAR=1X;DP=641;DPB=641;DPRA=0;EPP=33.2727;EPPR=15.7559;GTI=0;LEN=1;MEANALT=3;MQM=31.4644;MQMR=31.171;NS=1;NUMALT=1;ODDS=796.805;PAIRED=0.970037;PAIREDR=0.927536;PAO=0;PQA=0;PQR=0;PRO=0;QA=7264;QR=10557;RO=345;RPL=142;RPP=5.3607;RPPR=11.627;RPR=125;RUN=1;SAF=110;SAP=20.9758;SAR=157;SF=0;SRF=142;SRP=26.4307;SRR=203;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon6:c.G618A:p.S206S,TRPM4:NM_017636:exon6:c.G618A:p.S206S;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0047;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0047;esp6500siv2_ea=0.0009;1000g2015aug_all=0.00958466;avsnp147=rs142788545;Kaviar_AF=0.0043919;Kaviar_AC=679;Kaviar_AN=154602;ExAC_ALL=0.0047;ExAC_AFR=0.0136;ExAC_AMR=0.0010;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0012;ExAC_OTH=0.0056;ExAC_SAS=0.0202;CLNALLELEID=259034;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0514;dpsi_zscore=-0.272;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0135;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0212;gnomAD_genome_ALL=0.0034;gnomAD_genome_AFR=0.0110;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-360.012,0,-580.842:641:345:267:7264:10557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49671952 . G A 3715.90 . AB=0.413793;ABP=49.8093;AC=2;AF=0.5;AN=4;AO=300;CIGAR=1X;DP=1467;DPB=725;DPRA=0;EPP=15.7786;EPPR=3.10221;GTI=0;LEN=1;MEANALT=3;MQM=32.6767;MQMR=32.828;NS=1;NUMALT=1;ODDS=878.832;PAIRED=0.953333;PAIREDR=0.915344;PAO=0;PQA=0;PQR=0;PRO=0;QA=8298;QR=11753;RO=378;RPL=229;RPP=183.706;RPPR=312.21;RPR=71;RUN=1;SAF=72;SAP=179.16;SAR=228;SF=0;SRF=128;SRP=88.5135;SRR=250;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon6:c.G755A:p.R252H,TRPM4:NM_017636:exon6:c.G755A:p.R252H;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0063;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0063;1000g2015aug_all=.;avsnp147=rs146564314;Kaviar_AF=0.0039068;Kaviar_AC=604;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0011;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0141;ExAC_NFE=0.0083;ExAC_OTH=0.0084;ExAC_SAS=0;CLNALLELEID=243375;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.674;Polyphen2_HVAR_pred=P;LRT_score=0.654;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.505;MutationAssessor_pred=M;FATHMM_score=1.22;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_pred=D;VEST3_score=0.241;CADD_raw=3.589;CADD_phred=23.2;DANN_score=0.999;fathmm-MKL_coding_score=0.125;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.815;MetaSVM_pred=T;MetaLR_score=0.120;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.38;phyloP7way_vertebrate=0.897;phyloP20way_mammalian=0.089;phastCons7way_vertebrate=0.258;phastCons20way_mammalian=0.121;SiPhy_29way_logOdds=10.284;GDI_full_10282015=.;dpsi_max_tissue=0.0438;dpsi_zscore=0.269;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0115;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0089;gnomAD_exome_NFE=0.0059;gnomAD_exome_OTH=0.0050;gnomAD_exome_SAS=3.377e-05;gnomAD_genome_ALL=0.0051;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0133;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0100;gnomAD_genome_NFE=0.0066;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-429.809,0,-672.451:725:378:300:8298:11753 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-410.824,0,-689.348:742:403:303:8383:12467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49671980 . G A 1631.31 . AB=0.447977;ABP=11.1439;AC=3;AF=0.5;AN=6;AO=155;CIGAR=1X;DP=1217;DPB=346;DPRA=0;EPP=24.3187;EPPR=6.24226;GTI=0;LEN=1;MEANALT=3;MQM=30.6839;MQMR=31.1919;NS=1;NUMALT=1;ODDS=380.93;PAIRED=0.974194;PAIREDR=0.918605;PAO=0;PQA=0;PQR=0;PRO=0;QA=4043;QR=4863;RO=172;RPL=122;RPP=113.98;RPPR=96.3836;RPR=33;RUN=1;SAF=29;SAP=134.826;SAR=126;SF=0;SRF=37;SRP=124.259;SRR=135;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon6:c.G783A:p.K261K,TRPM4:NM_017636:exon6:c.G783A:p.K261K;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0185;1000g2015aug_all=0.0157748;avsnp147=rs111930830;Kaviar_AF=0.0187643;Kaviar_AC=2901;Kaviar_AN=154602;ExAC_ALL=0.0400;ExAC_AFR=0.0266;ExAC_AMR=0.0190;ExAC_EAS=0.0003;ExAC_FIN=0.0961;ExAC_NFE=0.0435;ExAC_OTH=0.0531;ExAC_SAS=0.0485;CLNALLELEID=222814;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0639;dpsi_zscore=-0.324;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0220;gnomAD_exome_AFR=0.0171;gnomAD_exome_AMR=0.0067;gnomAD_exome_ASJ=0.0314;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0387;gnomAD_exome_NFE=0.0225;gnomAD_exome_OTH=0.0196;gnomAD_exome_SAS=0.0367;gnomAD_genome_ALL=0.0244;gnomAD_genome_AFR=0.0142;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0350;gnomAD_genome_NFE=0.0307;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-200.53,0,-255.613:346:172:155:4043:4863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-216.168,0,-565.217:554:332:194:5099:9546 . . . . . . . . . . . . . . . . 0/1:-192.657,0,-235.499:317:146:150:3770:4339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49674722 . G A 1611.02 . AB=0.501832;ABP=3.01825;AC=1;AF=0.5;AN=2;AO=137;CIGAR=1X;DP=273;DPB=273;DPRA=0;EPP=41.0665;EPPR=18.3566;GTI=0;LEN=1;MEANALT=3;MQM=28.2044;MQMR=25.9244;NS=1;NUMALT=1;ODDS=303.013;PAIRED=0.948905;PAIREDR=0.882353;PAO=0;PQA=0;PQR=0;PRO=0;QA=3788;QR=3480;RO=119;RPL=102;RPP=74.1617;RPPR=36.7502;RPR=35;RUN=1;SAF=49;SAP=27.1184;SAR=88;SF=0;SRF=63;SRP=3.90444;SRR=56;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0070;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0070;1000g2015aug_all=0.00359425;avsnp147=rs113664674;Kaviar_AF=0.0058343;Kaviar_AC=902;Kaviar_AN=154602;ExAC_ALL=0.0060;ExAC_AFR=0.0017;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0128;ExAC_NFE=0.0091;ExAC_OTH=0.0056;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8727;dpsi_zscore=-1.393;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0128;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=6.502e-05;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0114;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-181.141,0,-142.932:273:119:137:3788:3480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49674841 . G A 2989.08 . AB=0.435272;ABP=22.4069;AC=3;AF=0.5;AN=6;AO=232;CIGAR=1X;DP=1291;DPB=533;DPRA=0;EPP=8.40154;EPPR=7.21802;GTI=0;LEN=1;MEANALT=3;MQM=32.6466;MQMR=34.2125;NS=1;NUMALT=1;ODDS=759.185;PAIRED=0.905172;PAIREDR=0.948718;PAO=0;PQA=0;PQR=0;PRO=0;QA=6423;QR=8195;RO=273;RPL=99;RPP=13.8302;RPPR=16.3812;RPR=133;RUN=1;SAF=149;SAP=43.7816;SAR=83;SF=0,1;SRF=174;SRP=47.7522;SRR=99;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon8:c.G865A:p.E289K,TRPM4:NM_017636:exon8:c.G865A:p.E289K;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770369257;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.853e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.421;SIFT_pred=T;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.736;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_pred=T;PROVEAN_score=-1.18;PROVEAN_pred=N;VEST3_score=0.812;CADD_raw=2.465;CADD_phred=19.24;DANN_score=0.998;fathmm-MKL_coding_score=0.920;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.074;MetaSVM_pred=T;MetaLR_score=0.119;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.630;phyloP20way_mammalian=0.978;phastCons7way_vertebrate=0.549;phastCons20way_mammalian=0.866;SiPhy_29way_logOdds=11.751;GDI_full_10282015=.;dpsi_max_tissue=0.1548;dpsi_zscore=0.628;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.259e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.196e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-343.461,0,-484.527:533:273:232:6423:8195 . . . . . . . 0/1:-270.285,0,-326.628:411:212:185:5280:6270 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-336.817,0,-309.023:347:159:182:5480:4968:159,182 . . . . . chr19 49674931 . CTGGC CC 1949.03 . AB=0.493369;ABP=3.1543;AC=1;AF=0.5;AN=2;AO=186;CIGAR=1M3D1M;DP=377;DPB=268.8;DPRA=0;EPP=5.99899;EPPR=12.2676;GTI=0;LEN=3;MEANALT=17;MQM=27.4355;MQMR=30.462;NS=1;NUMALT=1;ODDS=448.781;PAIRED=0.946237;PAIREDR=0.888889;PAO=6;PQA=96;PQR=127;PRO=6;QA=4293;QR=5240;RO=171;RPL=75;RPP=18.1406;RPPR=33.4998;RPR=111;RUN=1;SAF=104;SAP=8.6608;SAR=82;SF=0;SRF=87;SRP=3.12459;SRR=84;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TRPM4:NM_001195227:exon8:c.956_958del:p.319_320del,TRPM4:NM_017636:exon8:c.956_958del:p.319_320del;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=8e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs764918057;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=8.666e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.157e-05;ExAC_OTH=0.0011;ExAC_SAS=0.0015;CLNALLELEID=343988;CLNDN=Progressive_familial_heart_block;CLNDISDB=MedGen:CN206278,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-203.791,0,-265.839:377:171:186:4293:5240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49675017 . G T 2931.85 . AB=0.512702;ABP=3.61711;AC=13;AF=0.5;AN=24;AO=222;CIGAR=1X;DP=5697;DPB=433;DPRA=0;EPP=5.51434;EPPR=8.16222;GTI=0;LEN=1;MEANALT=3;MQM=31.9099;MQMR=32.4902;NS=1;NUMALT=1;ODDS=657.084;PAIRED=0.900901;PAIREDR=0.887255;PAO=0;PQA=0;PQR=0;PRO=0;QA=5671;QR=6099;RO=204;RPL=159;RPP=93.1557;RPPR=105.24;RPR=63;RUN=1;SAF=86;SAP=27.4638;SAR=136;SF=0,1;SRF=68;SRP=52.2303;SRR=136;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon8:c.G1041T:p.L347L,TRPM4:NM_017636:exon8:c.G1041T:p.L347L;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0275;esp6500siv2_ea=0.0372;esp6500siv2_all=0.0275;esp6500siv2_ea=0.0372;1000g2015aug_all=0.0597045;avsnp147=rs61732831;Kaviar_AF=0.0467782;Kaviar_AC=7232;Kaviar_AN=154602;ExAC_ALL=0.0509;ExAC_AFR=0.0075;ExAC_AMR=0.0339;ExAC_EAS=0.1597;ExAC_FIN=0.0338;ExAC_NFE=0.0455;ExAC_OTH=0.0489;ExAC_SAS=0.0595;CLNALLELEID=334064;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0902;dpsi_zscore=-0.419;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0481;gnomAD_exome_AFR=0.0068;gnomAD_exome_AMR=0.0285;gnomAD_exome_ASJ=0.0747;gnomAD_exome_EAS=0.1534;gnomAD_exome_FIN=0.0314;gnomAD_exome_NFE=0.0418;gnomAD_exome_OTH=0.0438;gnomAD_exome_SAS=0.0564;gnomAD_genome_ALL=0.0355;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.1592;gnomAD_genome_FIN=0.0341;gnomAD_genome_NFE=0.0381;gnomAD_genome_OTH=0.0348;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-304.74,0,-332.509:433:204:222:5671:6099 . . . . . . . . . . . . 0/1:-285.1,0,-513.814:541:302:232:5950:9265 . 0/1:-321.177,0,-523.957:574:310:253:6619:9365 . . . . . . 0/1:-235.51,0,-375.408:425:230:188:4743:6758 . . . . . 0/1:-338.213,0,-556.228:636:361:261:6647:10307 . . . . . . . . . . . . . . . . . . 0/1:-208.735,0,-373.673:391:216:169:4230:6580 . . . . . . . . . . . . . 0/1:-263.952,0,-448.599:510:288:220:5560:8484 . . . . . . . . . . . . 0/1:-343.819,0,-486.601:555:284:262:6631:8544 . 0/1:-205.023,0,-335.521:382:210:168:4416:6166 . . . . . . . . . . . . . . . . . . . . . 0/1:-370.23,0,-481.238:439:230:206:5938:7315:230,206 . . . . 1/1:-804.705,-74.6544,0:383:26:357:10052:522:26,357 0/1:-397.851,0,-436.76:428:218:210:6247:6756:218,210 . . . chr19 49675038 . GGGGCCC GGGGCGGGCCC 652.08 . AB=0.343972;ABP=62.6411;AC=3;AF=0.5;AN=6;AO=97;CIGAR=1M4I5M;DP=751;DPB=382;DPRA=0;EPP=56.7598;EPPR=10.2485;GTI=0;LEN=4;MEANALT=47;MQM=24.1443;MQMR=30.3083;NS=1;NUMALT=1;ODDS=133.556;PAIRED=0.979381;PAIREDR=0.966667;PAO=15;PQA=422;PQR=422;PRO=15;QA=1937;QR=3630;RO=120;RPL=64;RPP=24.5235;RPPR=44.7026;RPR=33;RUN=1;SAF=33;SAP=24.5235;SAR=64;SF=0,1;SRF=42;SRP=26.4622;SRR=78;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0230;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0230;esp6500siv2_ea=0.0023;1000g2015aug_all=0.0279553;avsnp147=rs137898843;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;ExAC_ALL=0.0092;ExAC_AFR=0.0809;ExAC_AMR=0.0100;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0030;ExAC_OTH=0.0064;ExAC_SAS=0.0005;CLNALLELEID=334065;CLNDN=Progressive_familial_heart_block;CLNDISDB=MedGen:CN206278,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0078;gnomAD_exome_AFR=0.0761;gnomAD_exome_AMR=0.0095;gnomAD_exome_ASJ=0.0091;gnomAD_exome_EAS=5.944e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0098;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0220;gnomAD_genome_AFR=0.0733;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-180.743:282:120:97:1937:3630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-81.2887,0,-198.065:189:92:65:1454:2888:92,65 . . . . . . . . . . . . . . . 0/1:-146.254,0,-267.275:280:128:104:2435:4004:128,104 chr19 49675233 . C T 6872.20 . AB=0.471822;ABP=8.27249;AC=15;AF=0.5;AN=28;AO=360;CIGAR=1X;DP=12419;DPB=763;DPRA=0;EPP=24.725;EPPR=14.3113;GTI=0;LEN=1;MEANALT=3;MQM=34.5111;MQMR=35.8683;NS=1;NUMALT=1;ODDS=1259.7;PAIRED=0.875;PAIREDR=0.919355;PAO=0;PQA=0;PQR=0;PRO=0;QA=10002;QR=11222;RO=372;RPL=119;RPP=92.7886;RPPR=171.708;RPR=241;RUN=1;SAF=223;SAP=47.622;SAR=137;SF=0,1;SRF=233;SRP=54.5886;SRR=139;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0640;esp6500siv2_ea=0.0421;esp6500siv2_all=0.0640;esp6500siv2_ea=0.0421;1000g2015aug_all=0.0914537;avsnp147=rs2287923;Kaviar_AF=0.0578259;Kaviar_AC=8940;Kaviar_AN=154602;ExAC_ALL=0.0612;ExAC_AFR=0.1105;ExAC_AMR=0.0416;ExAC_EAS=0.1536;ExAC_FIN=0.0307;ExAC_NFE=0.0488;ExAC_OTH=0.0608;ExAC_SAS=0.0582;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0871;dpsi_zscore=1.573;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0597;gnomAD_exome_AFR=0.1114;gnomAD_exome_AMR=0.0397;gnomAD_exome_ASJ=0.1177;gnomAD_exome_EAS=0.1534;gnomAD_exome_FIN=0.0311;gnomAD_exome_NFE=0.0454;gnomAD_exome_OTH=0.0604;gnomAD_exome_SAS=0.0570;gnomAD_genome_ALL=0.0669;gnomAD_genome_AFR=0.1104;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.1580;gnomAD_genome_FIN=0.0341;gnomAD_genome_NFE=0.0403;gnomAD_genome_OTH=0.0410;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-570.583,0,-677.827:763:372:360:10002:11222 . . . . . . . . . . . . 0/1:-725.416,0,-804.691:934:451:436:12279:13494 . 0/1:-652.924,0,-884.246:907:473:393:11239:14281 . . . . . . 0/1:-439.957,0,-662.436:666:349:287:7783:10519 . . . . . 0/1:-800.85,0,-927.91:1073:526:510:14123:15602 . . . . . . . . . . . . . . . . . . 0/1:-489.797,0,-513.014:641:305:307:8528:9068 . . . . . . . . . . . . . 0/1:-584.49,0,-826.781:854:449:371:10423:13214 . . . . . . . . . . . . 0/1:-673.468,0,-869.733:940:476:421:11819:14240 . 0/1:-627.118,0,-622.439:786:352:409:11000:10672 . . . . . . . . . . . . . 0/1:-1090.57,0,-944.127:1034:468:535:16082:14593:468,535 . . . . . . 0/1:-998.75,0,-991.644:1020:483:518:15220:15188:483,518 0/1:-799.185,0,-959.168:894:448:422:12446:14245:448,422 . . . . 1/1:-2110.38,-220.233,0:889:15:848:25100:457:15,848 0/1:-1068.43,0,-980.22:1018:473:523:15825:14866:473,523 . . . chr19 49675285 . G A 9614.36 . AB=0.485025;ABP=5.35159;AC=1;AF=0.5;AN=2;AO=583;CIGAR=1X;DP=1202;DPB=1202;DPRA=0;EPP=38.0556;EPPR=37.161;GTI=0;LEN=1;MEANALT=3;MQM=35.2659;MQMR=36.0734;NS=1;NUMALT=1;ODDS=2213.79;PAIRED=0.929674;PAIREDR=0.94198;PAO=0;PQA=0;PQR=0;PRO=0;QA=16549;QR=17108;RO=586;RPL=267;RPP=11.9532;RPPR=8.36116;RPR=316;RUN=1;SAF=312;SAP=9.27144;SAR=271;SF=0;SRF=337;SRP=31.7063;SRR=249;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon9:c.G1070A:p.R357Q,TRPM4:NM_017636:exon9:c.G1070A:p.R357Q;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs144328631;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.647e-05;ExAC_AFR=9.614e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.155;SIFT_pred=T;Polyphen2_HDIV_score=0.924;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.16;Polyphen2_HVAR_pred=B;LRT_score=0.335;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.405;MutationAssessor_pred=L;FATHMM_score=1.29;FATHMM_pred=T;PROVEAN_score=-1.01;PROVEAN_pred=N;VEST3_score=0.242;CADD_raw=3.605;CADD_phred=23.2;DANN_score=0.999;fathmm-MKL_coding_score=0.720;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.098;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.73;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.095;phastCons7way_vertebrate=0.973;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=6.308;GDI_full_10282015=.;dpsi_max_tissue=-2.3589;dpsi_zscore=-2.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.436e-05;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-974.547,0,-1023.71:1202:586:583:16549:17108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49675297 . T G 9775.33 . AB=0.481315;ABP=7.06761;AC=1;AF=0.5;AN=2;AO=644;CIGAR=1X;DP=1338;DPB=1338;DPRA=0;EPP=58.2547;EPPR=59.4144;GTI=0;LEN=1;MEANALT=3;MQM=34.705;MQMR=36.0426;NS=1;NUMALT=1;ODDS=2250.85;PAIRED=0.903727;PAIREDR=0.908957;PAO=0;PQA=0;PQR=0;PRO=0;QA=17366;QR=20231;RO=681;RPL=375;RPP=40.8964;RPPR=3.39613;RPR=269;RUN=1;SAF=339;SAP=6.90816;SAR=305;SF=0;SRF=351;SRP=4.4165;SRR=330;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon9:c.T1082G:p.L361R,TRPM4:NM_017636:exon9:c.T1082G:p.L361R;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs148763371;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=178747;CLNDN=Progressive_familial_heart_block_type_1B|Long_QT_syndrome|not_specified;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.976;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.375;MutationAssessor_pred=M;FATHMM_score=-2.42;FATHMM_pred=D;PROVEAN_score=-4.95;PROVEAN_pred=D;VEST3_score=0.95;CADD_raw=6.428;CADD_phred=29.7;DANN_score=0.997;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=0.739;MetaSVM_pred=D;MetaLR_score=0.794;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.77;phyloP7way_vertebrate=0.673;phyloP20way_mammalian=0.992;phastCons7way_vertebrate=0.870;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=12.109;GDI_full_10282015=.;dpsi_max_tissue=2.8373;dpsi_zscore=2.198;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=6.687e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . 0/1:-995.667,0,-1218.46:1338:681:644:17366:20231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49684586 . T A 3586.16 . AB=0.379587;ABP=112.829;AC=8;AF=0.5;AN=16;AO=331;CIGAR=1X;DP=4784;DPB=872;DPRA=0;EPP=144.773;EPPR=122.69;GTI=0;LEN=1;MEANALT=3;MQM=33.003;MQMR=35.4713;NS=1;NUMALT=1;ODDS=809.444;PAIRED=0.851964;PAIREDR=0.870902;PAO=0;PQA=0;PQR=0;PRO=0;QA=7937;QR=13661;RO=488;RPL=179;RPP=7.79279;RPPR=34.4077;RPR=152;RUN=1;SAF=171;SAP=3.8041;SAR=160;SF=0,1;SRF=248;SRP=3.29508;SRR=240;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0421;esp6500siv2_ea=0.0581;esp6500siv2_all=0.0421;esp6500siv2_ea=0.0581;1000g2015aug_all=0.0145767;avsnp147=rs11668638;Kaviar_AF=0.0405752;Kaviar_AC=6273;Kaviar_AN=154602;ExAC_ALL=0.0389;ExAC_AFR=0.0093;ExAC_AMR=0.0179;ExAC_EAS=0;ExAC_FIN=0.0638;ExAC_NFE=0.0576;ExAC_OTH=0.0363;ExAC_SAS=0.0075;CLNALLELEID=376628;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1704;dpsi_zscore=-0.626;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0396;gnomAD_exome_AFR=0.0088;gnomAD_exome_AMR=0.0209;gnomAD_exome_ASJ=0.0352;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0616;gnomAD_exome_NFE=0.0601;gnomAD_exome_OTH=0.0392;gnomAD_exome_SAS=0.0084;gnomAD_genome_ALL=0.0434;gnomAD_genome_AFR=0.0092;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.04;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0607;gnomAD_genome_NFE=0.0640;gnomAD_genome_OTH=0.0656;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-380.927,0,-838.227:872:488:331:7937:13661 . . . . . . . . 0/1:-416.167,0,-504.056:640:304:285:7308:8728 . . . . . . . . . . . 0/1:-240.083,0,-294.959:384:188:177:4424:5155 . . . . . . . . . . . . . . 0/1:-455.278,0,-687.367:780:410:320:8296:11399 . . . . . . . . . . . . . . . . . . . . . . 0/1:-261.347,0,-384.264:486:245:209:5088:6630 . . . . . . . . . . . . 0/1:-204.385,0,-339.414:423:215:188:4589:6034 . . . . . 0/1:-240.025,0,-328.796:417:205:185:4776:5965 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-669.231,0,-760.641:782:387:369:10547:11907:387,369 . . . . . . . . . chr19 49686146 . G A 1732.07 . AB=0.431818;ABP=15.4469;AC=2;AF=0.5;AN=4;AO=133;CIGAR=1X;DP=664;DPB=308;DPRA=0;EPP=80.7425;EPPR=49.96;GTI=0;LEN=1;MEANALT=3;MQM=25.1504;MQMR=26.2857;NS=1;NUMALT=1;ODDS=326.257;PAIRED=0.992481;PAIREDR=0.993789;PAO=0;PQA=0;PQR=0;PRO=0;QA=3865;QR=4802;RO=161;RPL=64;RPP=3.41847;RPPR=7.87925;RPR=69;RUN=1;SAF=63;SAP=3.81032;SAR=70;SF=0;SRF=66;SRP=14.3532;SRR=95;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TRPM4:NM_001195227:exon11:c.G1575A:p.W525X,TRPM4:NM_017636:exon11:c.G1575A:p.W525X;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0011;1000g2015aug_all=0.000399361;avsnp147=rs71352737;Kaviar_AF=0.0013195;Kaviar_AC=204;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=0.0004;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0065;ExAC_NFE=0.0019;ExAC_OTH=0;ExAC_SAS=0.0008;CLNALLELEID=243380;CLNDN=Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=6.169;CADD_phred=28.5;DANN_score=0.975;fathmm-MKL_coding_score=0.072;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=-0.786;phyloP7way_vertebrate=0.032;phyloP20way_mammalian=0.143;phastCons7way_vertebrate=0.006;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=4.739;GDI_full_10282015=.;dpsi_max_tissue=-56.9243;dpsi_zscore=-3.584;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM166000#"Sudden_unexpected_death_in_infancy";gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0055;gnomAD_exome_NFE=0.0020;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-157.303,0,-221.132:308:161:133:3865:4802 . . . . . 0/1:-231.016,0,-277.041:356:179:158:4807:5520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49686189 . G T 2810.32 . AB=0.436869;ABP=16.7191;AC=1;AF=0.5;AN=2;AO=173;CIGAR=1X;DP=396;DPB=396;DPRA=0;EPP=102.434;EPPR=93.3215;GTI=0;LEN=1;MEANALT=3;MQM=38.2948;MQMR=37.2627;NS=1;NUMALT=1;ODDS=647.101;PAIRED=0.953757;PAIREDR=0.917051;PAO=0;PQA=0;PQR=0;PRO=0;QA=5026;QR=6507;RO=217;RPL=67;RPP=22.1017;RPPR=21.5128;RPR=106;RUN=1;SAF=114;SAP=40.9797;SAR=59;SF=1;SRF=143;SRP=50.6526;SRR=74;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2595;dpsi_zscore=-0.791;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-305.281,0,-420.723:396:217:173:5026:6507:217,173 . . . . . . . chr19 49692023 . C T 2669.71 . AB=0.372372;ABP=97.2379;AC=1;AF=0.5;AN=2;AO=248;CIGAR=1X;DP=666;DPB=666;DPRA=0;EPP=19.9618;EPPR=3.95214;GTI=0;LEN=1;MEANALT=3;MQM=30.8145;MQMR=29.2229;NS=1;NUMALT=1;ODDS=614.724;PAIRED=0.903226;PAIREDR=0.894578;PAO=0;PQA=0;PQR=0;PRO=0;QA=6212;QR=9425;RO=332;RPL=181;RPP=116.802;RPPR=46.9892;RPR=67;RUN=1;SAF=93;SAP=36.6681;SAR=155;SF=0;SRF=135;SRP=28.1523;SRR=197;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon13:c.C1869T:p.G623G,TRPM4:NM_017636:exon13:c.C1869T:p.G623G;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2383;dpsi_zscore=-0.756;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.957e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-293.837,0,-491.773:666:332:248:6212:9425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49693461 . A C 968.46 . AB=0.385475;ABP=23.4027;AC=1;AF=0.5;AN=2;AO=69;CIGAR=1X;DP=179;DPB=179;DPRA=0;EPP=5.55942;EPPR=23.5991;GTI=0;LEN=1;MEANALT=3;MQM=34.6667;MQMR=37.4444;NS=1;NUMALT=1;ODDS=222.995;PAIRED=0.898551;PAIREDR=0.925926;PAO=0;PQA=0;PQR=0;PRO=0;QA=2027;QR=2941;RO=108;RPL=17;RPP=41.5618;RPPR=53.2759;RPR=52;RUN=1;SAF=47;SAP=22.6794;SAR=22;SF=1;SRF=67;SRP=16.6021;SRR=41;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs369498574;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=9.625e-05;ExAC_AMR=0.0004;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.057e-05;CLNALLELEID=507503;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.5030;dpsi_zscore=-1.718;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=8.973e-05;gnomAD_exome_NFE=8.959e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-110.73,0,-192.32:179:108:69:2027:2941:108,69 . . . . . . . . . chr19 49694029 . G A 10494.00 . AB=0.457534;ABP=25.8792;AC=1;AF=0.5;AN=2;AO=668;CIGAR=1X;DP=1460;DPB=1460;DPRA=0;EPP=216.049;EPPR=237.028;GTI=0;LEN=1;MEANALT=3;MQM=34.982;MQMR=36.2619;NS=1;NUMALT=1;ODDS=2416.33;PAIRED=0.907186;PAIREDR=0.891613;PAO=0;PQA=0;PQR=0;PRO=0;QA=20242;QR=24906;RO=775;RPL=524;RPP=472.412;RPPR=717.565;RPR=144;RUN=1;SAF=190;SAP=272.637;SAR=478;SF=0;SRF=234;SRP=267.087;SRR=541;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon16:c.G2209A:p.G737R,TRPM4:NM_017636:exon16:c.G2209A:p.G737R;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0017;1000g2015aug_all=0.00339457;avsnp147=rs145847114;Kaviar_AF=0.0019663;Kaviar_AC=304;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0007;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0076;CLNALLELEID=471078;CLNDN=Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.351;SIFT_pred=T;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.713;Polyphen2_HVAR_pred=P;LRT_score=0.559;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=0.7;PROVEAN_pred=N;VEST3_score=0.058;CADD_raw=-1.018;CADD_phred=0.015;DANN_score=0.390;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.784;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=-7.16;phyloP7way_vertebrate=0.626;phyloP20way_mammalian=-1.500;phastCons7way_vertebrate=0.312;phastCons20way_mammalian=0.016;SiPhy_29way_logOdds=5.659;GDI_full_10282015=.;dpsi_max_tissue=-1.2037;dpsi_zscore=-1.581;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0023;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.486e-05;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0069;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1158.76,0,-1543.24:1460:775:668:20242:24906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49694101 . G A 12289.70 . AB=0.502172;ABP=3.05746;AC=1;AF=0.5;AN=2;AO=578;CIGAR=1X;DP=1151;DPB=1151;DPRA=0;EPP=9.63742;EPPR=19.7222;GTI=0;LEN=1;MEANALT=3;MQM=40.0415;MQMR=40.871;NS=1;NUMALT=1;ODDS=2783.98;PAIRED=0.958478;PAIREDR=0.959364;PAO=0;PQA=0;PQR=0;PRO=0;QA=18522;QR=18174;RO=566;RPL=219;RPP=76.645;RPPR=147.402;RPR=359;RUN=1;SAF=315;SAP=13.1689;SAR=263;SF=1;SRF=306;SRP=11.1284;SRR=260;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs112944944;Kaviar_AF=0.0005763;Kaviar_AC=15;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7470;dpsi_zscore=1.348;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1246.16,0,-1234.34:1151:566:578:18522:18174:566,578 chr19 49699866 . C T 5790.52 . AB=0.440898;ABP=28.6778;AC=18;AF=0.5;AN=34;AO=373;CIGAR=1X;DP=13921;DPB=846;DPRA=0;EPP=6.64883;EPPR=7.99069;GTI=0;LEN=1;MEANALT=3;MQM=32.3405;MQMR=32.2053;NS=1;NUMALT=1;ODDS=1185.05;PAIRED=0.868633;PAIREDR=0.859189;PAO=0;PQA=0;PQR=0;PRO=0;QA=10130;QR=12470;RO=419;RPL=123;RPP=96.9076;RPPR=78.8875;RPR=250;RUN=1;SAF=209;SAP=14.7991;SAR=164;SF=0,1;SRF=219;SRP=4.88119;SRR=200;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_017636:exon17:c.C2380T:p.L794L;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0411;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0411;1000g2015aug_all=0.11242;avsnp147=rs3745301;Kaviar_AF=0.0482982;Kaviar_AC=7467;Kaviar_AN=154602;ExAC_ALL=0.1001;ExAC_AFR=0.1405;ExAC_AMR=0.1383;ExAC_EAS=0.2843;ExAC_FIN=0.1358;ExAC_NFE=0.0910;ExAC_OTH=0.0960;ExAC_SAS=0.0641;CLNALLELEID=350218;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0294;dpsi_zscore=0.193;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0693;gnomAD_exome_AFR=0.1190;gnomAD_exome_AMR=0.0584;gnomAD_exome_ASJ=0.0959;gnomAD_exome_EAS=0.1880;gnomAD_exome_FIN=0.0303;gnomAD_exome_NFE=0.0515;gnomAD_exome_OTH=0.0742;gnomAD_exome_SAS=0.0621;gnomAD_genome_ALL=0.0744;gnomAD_genome_AFR=0.1202;gnomAD_genome_AMR=0.0728;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.1851;gnomAD_genome_FIN=0.0350;gnomAD_genome_NFE=0.0461;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-534.036,0,-687.109:846:419:373:10130:12470 . . . 0/1:-402.225,0,-629.756:701:374:297:7974:10823 . . . . . . . . . . . . 0/1:-610.179,0,-610.344:845:391:407:10864:11056 . . . . . . . . 0/1:-473.412,0,-542.275:641:309:296:8228:9015 . . . . . 0/1:-522.884,0,-689.669:781:392:348:9467:11538 . 0/1:-450.524,0,-615.23:739:384:316:8505:11099 . . . . . . . . . . . . . . . . 0/1:-412.62,0,-545.933:647:318:302:7926:9490 . . . . . . . . . . . . . 0/1:-532.356,0,-635.557:809:380:378:10099:10992 . . . . . . . . . . . . 0/1:-619.231,0,-681.106:873:422:411:11100:12172 . 0/1:-341.624,0,-431.449:565:274:255:6733:7671 . . . . . . . . . . . . . 0/1:-999.444,0,-1112.09:1048:528:501:15299:16601:528,501 0/1:-476.194,0,-530.553:490:251:233:7161:7854:251,233 0/1:-827.987,0,-946.26:865:444:407:12576:13886:444,407 . . . . 0/1:-982.49,0,-1197.83:1090:566:502:15148:17596:566,502 0/1:-1002.54,0,-948.556:956:460:484:14912:14234:460,484 . . . . 1/1:-2297.53,-240.405,0:898:9:869:27014:279:9,869 0/1:-1149.33,0,-1084.27:1127:535:566:17268:16557:535,566 . . . chr19 49700047 . A G 1243.15 . AB=0.513369;ABP=3.3006;AC=1;AF=0.5;AN=2;AO=96;CIGAR=1X;DP=187;DPB=187;DPRA=0;EPP=50.8732;EPPR=15.2311;GTI=0;LEN=1;MEANALT=3;MQM=30.5208;MQMR=32.186;NS=1;NUMALT=1;ODDS=253.383;PAIRED=0.927083;PAIREDR=0.953488;PAO=0;PQA=0;PQR=0;PRO=0;QA=2973;QR=2435;RO=86;RPL=65;RPP=29.1584;RPPR=9.47422;RPR=31;RUN=1;SAF=12;SAP=120.27;SAR=84;SF=0;SRF=15;SRP=82.1933;SRR=71;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_017636:exon17:c.A2561G:p.Q854R;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000399361;avsnp147=rs172155862;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0029;ExAC_OTH=0;ExAC_SAS=0.0007;CLNALLELEID=376642;CLNDN=Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.102;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=0.073;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.405;MutationAssessor_pred=N;FATHMM_score=-0.42;FATHMM_pred=T;PROVEAN_score=-0.45;PROVEAN_pred=N;VEST3_score=0.03;CADD_raw=0.237;CADD_phred=5.061;DANN_score=0.959;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.995;MetaSVM_pred=T;MetaLR_score=0.132;MetaLR_pred=T;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=0.147;phyloP7way_vertebrate=-0.462;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.050;SiPhy_29way_logOdds=7.140;GDI_full_10282015=.;dpsi_max_tissue=0.0090;dpsi_zscore=0.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM131520#"Brugada_syndrome";gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-151.522,0,-126.938:187:86:96:2973:2435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49703540 . A T 4227.96 . AB=0.465714;ABP=10.1575;AC=1;AF=0.5;AN=2;AO=326;CIGAR=1X;DP=700;DPB=700;DPRA=0;EPP=4.71551;EPPR=5.37858;GTI=0;LEN=1;MEANALT=3;MQM=33.3834;MQMR=35.3716;NS=1;NUMALT=1;ODDS=973.523;PAIRED=0.852761;PAIREDR=0.78852;PAO=0;PQA=0;PQR=0;PRO=0;QA=8346;QR=9855;RO=331;RPL=244;RPP=177.82;RPPR=137.163;RPR=82;RUN=1;SAF=157;SAP=3.96948;SAR=169;SF=0;SRF=140;SRP=20.0737;SRR=191;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=.;esp6500siv2_all=0.0032;esp6500siv2_ea=.;1000g2015aug_all=0.00279553;avsnp147=rs116370720;Kaviar_AF=0.0012096;Kaviar_AC=187;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0121;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.997e-05;ExAC_OTH=0.0011;ExAC_SAS=0.0001;CLNALLELEID=507096;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0469;dpsi_zscore=-0.251;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0107;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0033;gnomAD_genome_AFR=0.0109;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-448.863,0,-587.928:700:331:326:8346:9855 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49703651 . A T 2334.19 . AB=0.479087;ABP=4.00934;AC=2;AF=0.5;AN=4;AO=126;CIGAR=1X;DP=818;DPB=263;DPRA=0;EPP=22.9327;EPPR=22.3197;GTI=0;LEN=1;MEANALT=3;MQM=29.8889;MQMR=28.0154;NS=1;NUMALT=1;ODDS=378.116;PAIRED=0.603175;PAIREDR=0.515385;PAO=0;PQA=0;PQR=0;PRO=0;QA=3540;QR=3971;RO=130;RPL=87;RPP=42.7172;RPPR=4.07933;RPR=39;RUN=1;SAF=75;SAP=12.937;SAR=51;SF=0;SRF=81;SRP=20.1148;SRR=49;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TRPM4:NM_001195227:exon17:c.A2305T:p.K769X,TRPM4:NM_017636:exon18:c.A2740T:p.K914X;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.000399361;avsnp147=rs140799936;Kaviar_AF=0.0014165;Kaviar_AC=219;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0003;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0022;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=243381;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|TRPM4-Related_Disorders|not_provided;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN239424|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=16.146;CADD_phred=54;DANN_score=0.997;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.21;phyloP7way_vertebrate=0.722;phyloP20way_mammalian=1.028;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=12.582;GDI_full_10282015=.;dpsi_max_tissue=-6.8373;dpsi_zscore=-2.688;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM131518#"Brugada_syndrome";gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0019;gnomAD_exome_NFE=0.0020;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-178.008,0,-185.091:263:130:126:3540:3971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-323.728,0,-416.286:555:274:264:7161:8200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49703672 . G A 1506.00 . AB=0.438356;ABP=15.0575;AC=1;AF=0.5;AN=2;AO=160;CIGAR=1X;DP=365;DPB=365;DPRA=0;EPP=3.0103;EPPR=7.20229;GTI=0;LEN=1;MEANALT=3;MQM=28.7063;MQMR=30.3155;NS=1;NUMALT=1;ODDS=346.77;PAIRED=0.64375;PAIREDR=0.545455;PAO=0;PQA=0;PQR=0;PRO=0;QA=4304;QR=5304;RO=187;RPL=151;RPP=276.67;RPPR=334.665;RPR=9;RUN=1;SAF=89;SAP=7.40753;SAR=71;SF=0;SRF=112;SRP=18.9073;SRR=75;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon17:c.G2326A:p.V776I,TRPM4:NM_017636:exon18:c.G2761A:p.V921I;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs377359117;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=9.781e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.891;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.32;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=-0.115;MutationAssessor_pred=N;FATHMM_score=0.34;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_pred=N;VEST3_score=0.148;CADD_raw=2.229;CADD_phred=17.70;DANN_score=0.932;fathmm-MKL_coding_score=0.669;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.965;MetaSVM_pred=T;MetaLR_score=0.055;MetaLR_pred=T;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=4.21;phyloP7way_vertebrate=0.630;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=6.925;GDI_full_10282015=.;dpsi_max_tissue=-0.0963;dpsi_zscore=-0.437;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-191.251,0,-285.807:365:187:160:4304:5304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49703983 . G T 7800.45 . AB=0.427476;ABP=68.524;AC=1;AF=0.5;AN=2;AO=613;CIGAR=1X;DP=1434;DPB=1434;DPRA=0;EPP=7.8598;EPPR=3.0211;GTI=0;LEN=1;MEANALT=3;MQM=32.6085;MQMR=33.7948;NS=1;NUMALT=1;ODDS=1796.12;PAIRED=0.910277;PAIREDR=0.893035;PAO=0;PQA=0;PQR=0;PRO=0;QA=15839;QR=23608;RO=804;RPL=306;RPP=3.01384;RPPR=15.499;RPR=307;RUN=1;SAF=301;SAP=3.43893;SAR=312;SF=0;SRF=407;SRP=3.28038;SRR=397;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon18:c.G2459T:p.R820L,TRPM4:NM_017636:exon19:c.G2894T:p.R965L;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.194;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.979;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_pred=M;FATHMM_score=-0.79;FATHMM_pred=T;PROVEAN_score=-4.45;PROVEAN_pred=D;VEST3_score=0.779;CADD_raw=6.457;CADD_phred=29.9;DANN_score=0.998;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=0.279;MetaSVM_pred=D;MetaLR_score=0.588;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.57;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.361;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=16.500;GDI_full_10282015=.;dpsi_max_tissue=-0.4488;dpsi_zscore=-1.039;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.126e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.792e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-794.326,0,-1397.9:1434:804:613:15839:23608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49704023 . T C 11074.50 . AB=0.480803;ABP=6.67869;AC=1;AF=0.5;AN=2;AO=551;CIGAR=1X;DP=1146;DPB=1146;DPRA=0;EPP=24.0117;EPPR=6.6907;GTI=0;LEN=1;MEANALT=3;MQM=39.3866;MQMR=39.4974;NS=1;NUMALT=1;ODDS=2549.99;PAIRED=0.965517;PAIREDR=0.962963;PAO=0;PQA=0;PQR=0;PRO=0;QA=17177;QR=17916;RO=567;RPL=329;RPP=48.1304;RPPR=74.891;RPR=222;RUN=1;SAF=213;SAP=64.5879;SAR=338;SF=1;SRF=249;SRP=21.2438;SRR=318;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon18:c.T2499C:p.I833I,TRPM4:NM_017636:exon19:c.T2934C:p.I978I;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0258;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0258;esp6500siv2_ea=0.0009;1000g2015aug_all=0.0255591;avsnp147=rs35516880;Kaviar_AF=0.0072056;Kaviar_AC=1114;Kaviar_AN=154602;ExAC_ALL=0.0076;ExAC_AFR=0.0826;ExAC_AMR=0.0037;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=6.098e-05;CLNALLELEID=259037;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0393;dpsi_zscore=0.247;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0062;gnomAD_exome_AFR=0.0855;gnomAD_exome_AMR=0.0042;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0238;gnomAD_genome_AFR=0.0830;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1128.36,0,-1178.61:1146:567:551:17177:17916:567,551 chr19 49705249 . G A 6485.46 . AB=0.425873;ABP=53.5529;AC=1;AF=0.5;AN=2;AO=451;CIGAR=1X;DP=1059;DPB=1059;DPRA=0;EPP=60.2149;EPPR=37.6962;GTI=0;LEN=1;MEANALT=3;MQM=32.7849;MQMR=34.0301;NS=1;NUMALT=1;ODDS=1493.33;PAIRED=0.891353;PAIREDR=0.890265;PAO=0;PQA=0;PQR=0;PRO=0;QA=13167;QR=17356;RO=565;RPL=157;RPP=93.3792;RPPR=73.0547;RPR=294;RUN=1;SAF=297;SAP=101.468;SAR=154;SF=0;SRF=369;SRP=118.037;SRR=196;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon19:c.G2547A:p.S849S,TRPM4:NM_017636:exon20:c.G2982A:p.S994S;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0002;1000g2015aug_all=0.0233626;avsnp147=rs1175810;Kaviar_AF=0.0084992;Kaviar_AC=1314;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0954;ExAC_AMR=0.0050;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0022;ExAC_SAS=0.0010;CLNALLELEID=350222;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1912;dpsi_zscore=-0.670;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0073;gnomAD_exome_AFR=0.0959;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0284;gnomAD_genome_AFR=0.0988;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-684.124,0,-1032.9:1059:565:451:13167:17356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49705291 . G A 11975.40 . AB=0.463971;ABP=18.3447;AC=1;AF=0.5;AN=2;AO=631;CIGAR=1X;DP=1360;DPB=1360;DPRA=0;EPP=92.2127;EPPR=150.735;GTI=0;LEN=1;MEANALT=3;MQM=38.9572;MQMR=39.8993;NS=1;NUMALT=1;ODDS=2757.44;PAIRED=0.954041;PAIREDR=0.960284;PAO=0;PQA=0;PQR=0;PRO=0;QA=19308;QR=21151;RO=705;RPL=218;RPP=133.866;RPPR=117.741;RPR=413;RUN=1;SAF=343;SAP=13.4203;SAR=288;SF=1;SRF=379;SRP=11.6623;SRR=326;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon19:c.G2589A:p.A863A,TRPM4:NM_017636:exon20:c.G3024A:p.A1008A;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0010;1000g2015aug_all=0.023762;avsnp147=rs35145363;Kaviar_AF=0.007529;Kaviar_AC=1164;Kaviar_AN=154602;ExAC_ALL=0.0080;ExAC_AFR=0.0865;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=344000;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0554;dpsi_zscore=-1.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0065;gnomAD_exome_AFR=0.0897;gnomAD_exome_AMR=0.0043;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0042;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0244;gnomAD_genome_AFR=0.0857;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1229.91,0,-1418.87:1360:705:631:19308:21151:705,631 chr19 49714497 . C T 8231.26 . AB=0.448303;ABP=32.422;AC=2;AF=0.5;AN=4;AO=568;CIGAR=1X;DP=2238;DPB=1267;DPRA=0;EPP=12.5678;EPPR=69.5537;GTI=0;LEN=1;MEANALT=3;MQM=34.0018;MQMR=33.3632;NS=1;NUMALT=1;ODDS=2076.44;PAIRED=0.90493;PAIREDR=0.870821;PAO=0;PQA=0;PQR=0;PRO=0;QA=16675;QR=21010;RO=658;RPL=284;RPP=3.0103;RPPR=14.8907;RPR=284;RUN=1;SAF=287;SAP=3.14793;SAR=281;SF=0;SRF=319;SRP=4.33034;SRR=339;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon23:c.C3176T:p.P1059L,TRPM4:NM_017636:exon24:c.C3611T:p.P1204L;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0033;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0033;1000g2015aug_all=0.00159744;avsnp147=rs150391806;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;ExAC_ALL=0.0038;ExAC_AFR=0.0002;ExAC_AMR=0.0032;ExAC_EAS=0.0017;ExAC_FIN=0.0144;ExAC_NFE=0.0051;ExAC_OTH=0.0025;ExAC_SAS=0.0012;CLNALLELEID=377844;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.251;SIFT_pred=T;Polyphen2_HDIV_score=0.93;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.213;Polyphen2_HVAR_pred=B;LRT_score=1.000;LRT_pred=U;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-1.81;PROVEAN_pred=N;VEST3_score=0.269;CADD_raw=4.157;CADD_phred=23.8;DANN_score=0.985;fathmm-MKL_coding_score=0.459;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.033;MetaSVM_pred=T;MetaLR_score=0.052;MetaLR_pred=T;integrated_fitCons_score=0.733;integrated_confidence_value=0;GERP++_RS=2.49;phyloP7way_vertebrate=0.598;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.083;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=6.309;GDI_full_10282015=.;dpsi_max_tissue=-1.7296;dpsi_zscore=-1.808;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM131521#"Brugada_syndrome";gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0051;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0098;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0041;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0042;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-912.258,0,-1197.8:1267:658:568:16675:21010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-755.321,0,-745.982:971:453:486:14025:14277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49714732 . C G 10721.60 . AB=0.470253;ABP=15.1541;AC=1;AF=0.5;AN=2;AO=743;CIGAR=1X;DP=1580;DPB=1580;DPRA=0;EPP=184.213;EPPR=235.743;GTI=0;LEN=1;MEANALT=3;MQM=35.0485;MQMR=36.0999;NS=1;NUMALT=1;ODDS=2468.73;PAIRED=0.952894;PAIREDR=0.913858;PAO=0;PQA=0;PQR=0;PRO=0;QA=19552;QR=23137;RO=801;RPL=440;RPP=57.8641;RPPR=42.7013;RPR=303;RUN=1;SAF=303;SAP=57.8641;SAR=440;SF=0;SRF=337;SRP=46.7352;SRR=464;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0182;esp6500siv2_ea=0.0027;esp6500siv2_all=0.0182;esp6500siv2_ea=0.0027;1000g2015aug_all=0.0203674;avsnp147=rs7256050;Kaviar_AF=0.0081047;Kaviar_AC=1253;Kaviar_AN=154602;ExAC_ALL=0.0083;ExAC_AFR=0.0490;ExAC_AMR=0.0081;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0039;ExAC_OTH=0.0055;ExAC_SAS=0.0082;CLNALLELEID=377592;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8020;dpsi_zscore=-1.345;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0076;gnomAD_exome_AFR=0.0499;gnomAD_exome_AMR=0.0088;gnomAD_exome_ASJ=0.0079;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0086;gnomAD_genome_ALL=0.0165;gnomAD_genome_AFR=0.0516;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1110.39,0,-1399.75:1580:801:743:19552:23137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 49714836 . G T 7463.59 . AB=0.447412;ABP=31.7868;AC=1;AF=0.5;AN=2;AO=536;CIGAR=1X;DP=1198;DPB=1198;DPRA=0;EPP=16.6387;EPPR=38.7268;GTI=0;LEN=1;MEANALT=3;MQM=34.0653;MQMR=33.6078;NS=1;NUMALT=1;ODDS=1718.56;PAIRED=0.94403;PAIREDR=0.930233;PAO=0;PQA=0;PQR=0;PRO=0;QA=14763;QR=19487;RO=645;RPL=353;RPP=120.092;RPPR=288.099;RPR=183;RUN=1;SAF=128;SAP=320.629;SAR=408;SF=0;SRF=162;SRP=349.911;SRR=483;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TRPM4;GeneDetail.refGene=NM_017636:c.*81G>T,NM_001195227:c.*81G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=344007;CLNDN=Progressive_familial_heart_block;CLNDISDB=MedGen:CN206278,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-803.143,0,-1130.93:1198:645:536:14763:19487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 55665410 . C T 4805.19 . AB=0.433432;ABP=29.0294;AC=30;AF=0.5;AN=52;AO=293;CIGAR=1X;DP=15463;DPB=676;DPRA=0;EPP=3.077;EPPR=5.97921;GTI=0;LEN=1;MEANALT=3;MQM=33.1706;MQMR=33.7345;NS=1;NUMALT=1;ODDS=889.708;PAIRED=0.829352;PAIREDR=0.80791;PAO=0;PQA=0;PQR=0;PRO=0;QA=7748;QR=10834;RO=354;RPL=115;RPP=32.4252;RPPR=71.9331;RPR=178;RUN=1;SAF=150;SAP=3.37345;SAR=143;SF=0,1;SRF=192;SRP=8.53099;SRR=162;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0485;esp6500siv2_ea=0.0658;esp6500siv2_all=0.0485;esp6500siv2_ea=0.0658;1000g2015aug_all=0.0477236;avsnp147=rs3729841;Kaviar_AF=0.0637314;Kaviar_AC=9853;Kaviar_AN=154602;ExAC_ALL=0.0660;ExAC_AFR=0.0124;ExAC_AMR=0.0333;ExAC_EAS=0.0448;ExAC_FIN=0.0631;ExAC_NFE=0.0718;ExAC_OTH=0.0944;ExAC_SAS=0.1065;CLNALLELEID=52561;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2164;dpsi_zscore=0.754;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0653;gnomAD_exome_AFR=0.0113;gnomAD_exome_AMR=0.0359;gnomAD_exome_ASJ=0.0966;gnomAD_exome_EAS=0.0454;gnomAD_exome_FIN=0.0583;gnomAD_exome_NFE=0.0710;gnomAD_exome_OTH=0.0845;gnomAD_exome_SAS=0.1061;gnomAD_genome_ALL=0.0484;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0418;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0469;gnomAD_genome_FIN=0.0600;gnomAD_genome_NFE=0.0649;gnomAD_genome_OTH=0.0738;Whole_Blood=Whole_Blood::0.0501355::0.686074;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-398.141,0,-623.318:676:354:293:7748:10834 . 0/1:-241.288,0,-367.797:411:221:180:4772:6508 0/1:-298.723,0,-595.286:595:327:246:6331:9987 . . 0/1:-420.387,0,-643.421:728:378:325:8401:11115 . . . . . . . 1/1:-1765.26,-242.504,0:903:13:852:23447:298 . . . . . 0/1:-438.444,0,-603.471:715:373:311:8252:10833 . . . 0/1:-323.903,0,-452.541:553:280:248:6621:8163 . . . . . . . 0/1:-406.208,0,-605.742:685:358:301:8093:10440 0/1:-464.466,0,-656.359:711:367:321:8843:11028 . . . . 1/1:-859.316,-127.597,0:447:1:425:11175:14 . . 1/1:-1301.49,-187.007,0:669:5:632:17161:92 . . . 1/1:-1243.13,-171.603,0:656:7:605:16434:153 0/1:-233.261,0,-303.931:366:181:167:4501:5560 . . . . . . . . 0/1:-416.891,0,-664.238:693:362:303:8291:10937 . . . . . 0/1:-364.252,0,-548.369:624:328:271:7105:9679 0/1:-226.874,0,-447.401:425:247:166:4703:7482 0/1:-421.962,0,-766.721:805:446:330:8713:13220 . . . 0/1:-339.091,0,-500.693:605:314:264:6783:9004 . 0/1:-399.996,0,-536.753:653:327:298:7840:9542 . 0/1:-400.752,0,-606.135:675:352:293:7720:10379 . . . . . 0/1:-239.197,0,-325.086:400:205:180:4855:5899 . . . . . . 0/1:-367.426,0,-667.634:736:400:292:7625:11559 0/1:-439.899,0,-351.891:533:226:289:7713:6782 . . . . . . . . . . . . . . . . . 0/1:-429.09,0,-418.904:436:204:219:6645:6389:204,219 . . 0/1:-289.235,0,-387.63:349:189:154:4680:5729:189,154 . . . . . 0/1:-336.98,0,-465.342:414:222:178:5350:6861:222,178 . . chr19 55665580 . GGCAA GGCAC 1030.66 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=49;CIGAR=4M1X;DP=63;DPB=64.8;DPRA=0;EPP=19.0083;EPPR=0;GTI=0;LEN=1;MEANALT=10;MQM=35.0204;MQMR=0;NS=1;NUMALT=1;ODDS=48.2367;PAIRED=0.897959;PAIREDR=0;PAO=1.5;PQA=47;PQR=47;PRO=1.5;QA=1480;QR=0;RO=0;RPL=36;RPP=26.4533;RPPR=0;RPR=13;RUN=1;SAF=6;SAP=63.6786;SAR=43;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-116.555,-16.5566,0:63:0:49:1480:0:0,49 . . . . . . . . chr19 55665581 . GCAA GCAC 1149.65 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=56;CIGAR=3M1X;DP=136;DPB=72.5;DPRA=0;EPP=25.3454;EPPR=7.35324;GTI=0;LEN=1;MEANALT=6;MQM=38;MQMR=33;NS=1;NUMALT=1;ODDS=57.9898;PAIRED=1;PAIREDR=1;PAO=0.666667;PQA=21.3333;PQR=21.3333;PRO=0.666667;QA=1693;QR=41;RO=2;RPL=44;RPP=42.7172;RPPR=3.0103;RPR=12;RUN=1;SAF=4;SAP=92.3509;SAR=52;SF=1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-138.744,-15.7664,0:72:2:56:1693:41:2,56 . . . . . . . . 1/1:-132.21,-14.5497,0:64:1:57:1633:33:1,57 . . chr19 55665582 . CAA CAC,AAA 1618.55 . AB=0;ABP=0;AC=12,0;AF=1;AN=14;AO=70;CIGAR=2M1X;DP=590;DPB=80.3333;DPRA=0;EPP=15.4187;EPPR=0;GTI=0;LEN=1;MEANALT=6;MQM=39.0429;MQMR=0;NS=1;NUMALT=1;ODDS=104.418;PAIRED=1;PAIREDR=0;PAO=1;PQA=31.5;PQR=31.5;PRO=1;QA=2117;QR=0;RO=0;RPL=49;RPP=27.3308;RPPR=0;RPR=21;RUN=1;SAF=4;SAP=122.255;SAR=66;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5531;dpsi_zscore=1.185;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-180.885,-22.2762,0,.,.,.:79:0:70,.:2117,.:0:0,70 1/1:-229.233,-27.3676,0,.,.,.:108:2:94,.:2817,.:51:2,94 . . . 1/1:-143.333,-17.7389,0,.,.,.:61:1:56,.:1700,.:14:1,56 1/1:-197.98,-22.8783,0,.,.,.:85:0:76,.:2307,.:0:0,76 . . . . 0/0:.,.,.,.,.,-212.938:98:92:.,6:.,144:2824:92,6 1/1:-184.142,-19.8015,0,.,.,.:80:2:72,.:2231,.:47:2,72 . 1/1:-182.709,-21.0721,0,.,.,.:79:0:70,.:2169,.:0:0,70 . . . . chr19 55665583 . AA AC,CA 1936.32 . AB=0;ABP=0;AC=2,0;AF=0;AN=4;AO=7;CIGAR=1X;DP=208;DPB=110;DPRA=0;EPP=5.80219;EPPR=9.22372;GTI=0;LEN=1;MEANALT=3;MQM=35.8571;MQMR=35.7327;NS=1;NUMALT=1;ODDS=106.407;PAIRED=1;PAIREDR=0.980198;PAO=0;PQA=0;PQR=0;PRO=0;QA=150;QR=2898;RO=101;RPL=3;RPP=3.32051;RPPR=21.0916;RPR=4;RUN=1;SAF=1;SAP=10.7656;SAR=6;SF=1;SRF=6;SRP=173.31;SRR=95;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8734;dpsi_zscore=-1.393;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-217.878:110:101:.,7:.,150:2898:101,7 . . 1/1:-223.692,-27.0434,0,.,.,.:98:1:93,.:2801,.:14:1,93 . . . . . . . chr19 55665584 . AACGA CACGA 1976.48 . AB=0;ABP=0;AC=210;AF=1;AN=210;AO=104;CIGAR=1X;DP=12791;DPB=110;DPRA=0;EPP=11.3621;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=27.5288;MQMR=23;NS=1;NUMALT=1;ODDS=143.177;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2757;QR=14;RO=1;RPL=68;RPP=24.391;RPPR=5.18177;RPR=36;RUN=1;SAF=12;SAP=136.639;SAR=92;SF=0,1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs7252610;Kaviar_AF=0.938261;Kaviar_AC=145057;Kaviar_AN=154602;ExAC_ALL=1.0000;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9998;CLNALLELEID=45542;CLNDN=Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9137;dpsi_zscore=-1.420;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.0000;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:.,.,0:110:1:104:2757:14 1/1:.,.,0:138:3:132:3495:42 1/1:.,.,0:109:3:106:2776:42 1/1:.,.,0:74:2:70:1903:46 1/1:.,.,0:108:5:102:2623:70 1/1:.,.,0:165:2:160:4210:28 1/1:.,.,0:98:0:96:2611:0 1/1:.,.,0:132:3:126:3373:42 1/1:.,.,0:140:5:132:3556:77 1/1:.,.,0:138:1:133:3535:14 1/1:.,.,0:95:2:92:2645:46 1/1:.,.,0:116:2:113:3104:28 1/1:.,.,0:134:1:127:3468:14 1/1:.,.,0:86:2:79:2035:28 1/1:.,.,0:86:1:80:1996:14 1/1:.,.,0:170:1:167:4334:32 1/1:.,.,0:86:3:81:2177:42 1/1:.,.,0:278:7:267:7171:98 1/1:.,.,0:109:3:105:2826:42 1/1:.,.,0:68:0:66:1726:0 1/1:.,.,0:108:1:106:2851:14 1/1:.,.,0:148:2:144:4036:28 1/1:.,.,0:52:2:50:1344:41 1/1:.,.,0:155:1:153:3924:14 1/1:.,.,0:147:4:139:3747:69 1/1:.,.,0:84:1:82:2225:14 1/1:.,.,0:113:0:112:3085:0 1/1:.,.,0:119:5:111:2936:70 1/1:.,.,0:89:4:84:2186:69 1/1:.,.,0:103:4:97:2552:69 1/1:.,.,0:109:2:99:2605:28 1/1:.,.,0:136:3:131:3589:55 1/1:.,.,0:168:1:162:4597:14 1/1:.,.,0:163:4:156:4233:56 1/1:.,.,0:125:3:120:3169:42 1/1:.,.,0:148:4:141:3964:63 1/1:.,.,0:194:2:190:5195:28 1/1:.,.,0:85:1:84:2278:14 1/1:.,.,0:123:3:119:3128:55 1/1:.,.,0:99:0:99:2607:0 1/1:.,.,0:160:4:151:4001:69 1/1:.,.,0:166:2:160:4072:28 1/1:.,.,0:120:1:116:3042:14 1/1:.,.,0:102:0:100:2753:0 1/1:.,.,0:147:0:145:4103:0 1/1:.,.,0:130:1:127:3541:14 1/1:.,.,0:118:2:115:3136:28 1/1:.,.,0:89:0:85:2346:0 1/1:.,.,0:107:2:103:2905:41 1/1:.,.,0:144:4:140:3582:70 1/1:.,.,0:138:3:131:3482:42 1/1:.,.,0:107:2:102:2818:35 1/1:.,.,0:135:2:131:3605:28 1/1:.,.,0:188:2:181:4652:28 1/1:.,.,0:77:2:73:1982:35 1/1:.,.,0:88:2:85:2222:50 1/1:.,.,0:157:0:154:4012:0 1/1:.,.,0:56:1:54:1426:14 1/1:.,.,0:96:0:94:2405:0 1/1:.,.,0:186:3:179:4807:42 1/1:.,.,0:86:1:85:2156:14 1/1:.,.,0:174:3:166:4542:42 1/1:.,.,0:128:1:122:3347:14 1/1:.,.,0:72:2:68:1692:35 1/1:.,.,0:148:2:144:3746:28 1/1:.,.,0:146:3:142:3918:42 1/1:.,.,0:52:0:50:1285:0 1/1:.,.,0:130:2:126:3495:28 1/1:.,.,0:120:7:112:2685:105 1/1:.,.,0:142:4:135:3643:63 1/1:.,.,0:149:3:143:3718:42 1/1:.,.,0:168:1:162:4611:32 1/1:.,.,0:154:3:147:4082:42 1/1:.,.,0:70:3:63:1688:49 1/1:.,.,0:97:1:94:2531:14 1/1:.,.,0:171:3:164:4375:42 1/1:.,.,0:162:1:157:4229:14 1/1:.,.,0:132:3:125:3463:55 1/1:.,.,0:87:3:79:2047:42 1/1:.,.,0:66:2:62:1672:41 1/1:.,.,0:129:3:122:3366:55 1/1:.,.,0:185:3:179:4616:60 1/1:.,.,0:191:7:180:4798:98 1/1:.,.,0:118:1:116:3011:21 1/1:.,.,0:107:2:103:2655:28 1/1:.,.,0:118:1:113:3225:14 1/1:.,.,0:87:2:84:2384:28 1/1:.,.,0:138:3:133:3688:42 1/1:.,.,0:83:1:80:2351:14 1/1:.,.,0:101:0:99:2635:0 1/1:.,.,0:173:4:167:4590:76 1/1:.,.,0:139:4:131:3556:56 1/1:.,.,0:174:0:173:4647:0 1/1:.,.,0:163:3:158:4320:55 1/1:.,.,0:156:4:148:4015:78 . 1/1:.,.,0:104:2:101:3116:28:2,101 . . 1/1:-135.956,-19.868,0:69:0:60:1586:0:0,60 1/1:.,.,0:94:2:92:2606:28:2,92 1/1:.,.,0:95:0:95:2826:0:0,95 . . . 1/1:.,.,0:110:1:109:3175:36:1,109 1/1:.,.,0:81:1:77:2271:14:1,77 . . . 1/1:.,.,0:75:1:74:2217:14:1,74 . 1/1:.,.,0:92:0:92:2706:0:0,92 . 1/1:.,.,0:70:1:69:2032:14:1,69 1/1:-126.607,-15.2414,0:66:1:53:1478:18:1,53 chr19 55667647 . C A 6926.63 . AB=0.38111;ABP=151.198;AC=10;AF=0.5;AN=20;AO=460;CIGAR=1X;DP=14235;DPB=1207;DPRA=0;EPP=16.7755;EPPR=137.81;GTI=0;LEN=1;MEANALT=3;MQM=33.85;MQMR=34.4378;NS=1;NUMALT=1;ODDS=1075.98;PAIRED=0.921739;PAIREDR=0.892265;PAO=0;PQA=0;PQR=0;PRO=0;QA=10645;QR=20584;RO=724;RPL=292;RPP=75.5941;RPPR=89.6892;RPR=168;RUN=1;SAF=187;SAP=37.9238;SAR=273;SF=0,1;SRF=343;SRP=7.34125;SRR=381;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0368;esp6500siv2_ea=0.0505;esp6500siv2_all=0.0368;esp6500siv2_ea=0.0505;1000g2015aug_all=0.0227636;avsnp147=rs3729711;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=0.0461;ExAC_AFR=0.0086;ExAC_AMR=0.0151;ExAC_EAS=0;ExAC_FIN=0.0951;ExAC_NFE=0.0649;ExAC_OTH=0.0406;ExAC_SAS=0.0236;CLNALLELEID=52536;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=2.843;CADD_phred=21.6;DANN_score=0.934;fathmm-MKL_coding_score=0.656;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=2.15;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.024;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=3.418;GDI_full_10282015=.;dpsi_max_tissue=0.4293;dpsi_zscore=1.056;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0408;gnomAD_exome_AFR=0.0069;gnomAD_exome_AMR=0.0160;gnomAD_exome_ASJ=0.0440;gnomAD_exome_EAS=5.94e-05;gnomAD_exome_FIN=0.0803;gnomAD_exome_NFE=0.0567;gnomAD_exome_OTH=0.0438;gnomAD_exome_SAS=0.0214;gnomAD_genome_ALL=0.0416;gnomAD_genome_AFR=0.0098;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0877;gnomAD_genome_NFE=0.0546;gnomAD_genome_OTH=0.0439;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-500.307,0,-1248.31:1207:724:460:10645:20584 . . . . 0/1:-536.638,0,-1060.08:1127:632:476:10918:17845 0/1:-1029.72,0,-2830.49:2516:1540:944:22352:44792 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-460.621,0,-1153.29:1098:658:428:9957:18340 0/1:-789.101,0,-1468.68:1523:861:640:15307:24152 . . . . . . . . . 0/1:-398.228,0,-870.589:920:527:375:8384:14882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-779.96,0,-1596.16:1602:921:654:15730:26193 . . . . 0/1:-977.181,0,-1447.35:1248:684:555:15591:21219:684,555 . . . 0/1:-1254.2,0,-1682.96:1532:810:716:19856:24943:810,716 . . . . . . . . . . . . . 0/1:-1126.25,0,-1684.39:1462:808:650:18155:24571:808,650 chr19 55667958 . C T 3640.05 . AB=0.502683;ABP=3.04526;AC=2;AF=0.5;AN=4;AO=281;CIGAR=1X;DP=1138;DPB=559;DPRA=0;EPP=24.7173;EPPR=14.2282;GTI=0;LEN=1;MEANALT=3;MQM=28.6975;MQMR=31.8679;NS=1;NUMALT=1;ODDS=776.63;PAIRED=0.640569;PAIREDR=0.664151;PAO=0;PQA=0;PQR=0;PRO=0;QA=7809;QR=8025;RO=265;RPL=45;RPP=284.923;RPPR=283.458;RPR=236;RUN=1;SAF=142;SAP=3.07985;SAR=139;SF=0,1;SRF=129;SRP=3.41182;SRR=136;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0716;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0716;esp6500siv2_ea=0.0036;1000g2015aug_all=0.076877;avsnp147=rs73617692;Kaviar_AF=0.0168627;Kaviar_AC=2607;Kaviar_AN=154602;ExAC_ALL=0.0402;ExAC_AFR=0.2807;ExAC_AMR=0.0523;ExAC_EAS=0.0106;ExAC_FIN=0;ExAC_NFE=0.0049;ExAC_OTH=0.0310;ExAC_SAS=0.0047;CLNALLELEID=52532;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7819;dpsi_zscore=1.374;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0181;gnomAD_exome_AFR=0.2375;gnomAD_exome_AMR=0.0149;gnomAD_exome_ASJ=0.0064;gnomAD_exome_EAS=0.0032;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0162;gnomAD_exome_SAS=0.0048;gnomAD_genome_ALL=0.0673;gnomAD_genome_AFR=0.2314;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-377.776,0,-420.431:559:265:281:7809:8025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-534.692,0,-553.475:579:276:289:8589:8764:276,289 . chr19 55668007 . T A 8871.15 . AB=0.500394;ABP=3.01201;AC=1;AF=0.5;AN=2;AO=635;CIGAR=1X;DP=1269;DPB=1269;DPRA=0;EPP=11.9048;EPPR=3.46885;GTI=0;LEN=1;MEANALT=3;MQM=29.9685;MQMR=30.726;NS=1;NUMALT=1;ODDS=1851.42;PAIRED=0.651969;PAIREDR=0.645724;PAO=0;PQA=0;PQR=0;PRO=0;QA=17419;QR=16039;RO=573;RPL=345;RPP=13.3547;RPPR=4.37837;RPR=290;RUN=1;SAF=269;SAP=35.1857;SAR=366;SF=0;SRF=226;SRP=58.4946;SRR=347;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730881066;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=179862;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.06;MutationAssessor_pred=M;FATHMM_score=-4.69;FATHMM_pred=D;PROVEAN_score=-2.58;PROVEAN_pred=D;VEST3_score=0.254;CADD_raw=4.826;CADD_phred=24.8;DANN_score=0.995;fathmm-MKL_coding_score=0.772;fathmm-MKL_coding_pred=D;MetaSVM_score=1.009;MetaSVM_pred=D;MetaLR_score=0.937;MetaLR_pred=D;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=2.73;phyloP7way_vertebrate=-0.068;phyloP20way_mammalian=0.053;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=6.391;GDI_full_10282015=.;dpsi_max_tissue=-1.1548;dpsi_zscore=-1.557;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516433#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-901.092,0,-818.586:1269:573:635:17419:16039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr19 55668060 . A G 2826.91 . AB=0.532508;ABP=5.97507;AC=1;AF=0.5;AN=2;AO=172;CIGAR=1X;DP=323;DPB=323;DPRA=0;EPP=15.9381;EPPR=16.7732;GTI=0;LEN=1;MEANALT=3;MQM=35.1977;MQMR=37.3944;NS=1;NUMALT=1;ODDS=537.038;PAIRED=0.848837;PAIREDR=0.78169;PAO=0;PQA=0;PQR=0;PRO=0;QA=5033;QR=4174;RO=142;RPL=139;RPP=144.863;RPPR=69.6225;RPR=33;RUN=1;SAF=79;SAP=5.48477;SAR=93;SF=1;SRF=62;SRP=7.96493;SRR=80;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0011;1000g2015aug_all=0.000199681;avsnp147=rs3729996;Kaviar_AF=0.0005045;Kaviar_AC=78;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0004;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4565;dpsi_zscore=1.086;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=4.133e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0;gnomAD_exome_SAS=4.319e-05;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-307.001,0,-249.468:323:142:172:5033:4174:142,172 . . . . . . . . . . . . . . . chr19 55668397 . C T 6618.07 . AB=0.472505;ABP=9.45838;AC=30;AF=0.5;AN=52;AO=464;CIGAR=1X;DP=21782;DPB=982;DPRA=0;EPP=63.8302;EPPR=29.1656;GTI=0;LEN=1;MEANALT=3;MQM=27.847;MQMR=26.9615;NS=1;NUMALT=1;ODDS=1287.19;PAIRED=0.81681;PAIREDR=0.830835;PAO=0;PQA=0;PQR=0;PRO=0;QA=13013;QR=14254;RO=467;RPL=90;RPP=380.472;RPPR=446.981;RPR=374;RUN=1;SAF=257;SAP=14.71;SAR=207;SF=0,1;SRF=234;SRP=3.01495;SRR=233;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0465;esp6500siv2_ea=0.0622;esp6500siv2_all=0.0465;esp6500siv2_ea=0.0622;1000g2015aug_all=0.0477236;avsnp147=rs3729837;Kaviar_AF=0.0492814;Kaviar_AC=7619;Kaviar_AN=154602;ExAC_ALL=0.1044;ExAC_AFR=0.0164;ExAC_AMR=0.0977;ExAC_EAS=0.0541;ExAC_FIN=0.1704;ExAC_NFE=0.1201;ExAC_OTH=0.116;ExAC_SAS=0.1216;CLNALLELEID=257236;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.5891;dpsi_zscore=-2.063;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0663;gnomAD_exome_AFR=0.0112;gnomAD_exome_AMR=0.0381;gnomAD_exome_ASJ=0.0975;gnomAD_exome_EAS=0.0439;gnomAD_exome_FIN=0.0575;gnomAD_exome_NFE=0.0708;gnomAD_exome_OTH=0.0854;gnomAD_exome_SAS=0.1079;gnomAD_genome_ALL=0.0488;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0419;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0476;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0655;gnomAD_genome_OTH=0.0745;Whole_Blood=Whole_Blood::0.0501355::0.686074;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-614.649,0,-644.217:982:467:464:13013:14254 . 0/1:-340.311,0,-306.905:491:217:248:7053:6580 0/1:-477.175,0,-569.605:842:415:376:10779:12504 . . 0/1:-489.791,0,-601.563:896:439:399:11261:13544 . . . . . . . 1/1:-2445.88,-358.287,0:1421:27:1283:36085:597 . . . . . 0/1:-641.323,0,-623.069:981:425:495:13830:13225 . . . 0/1:-358.939,0,-375.776:634:296:292:8334:8909 . . . . . . . 0/1:-527.548,0,-564.812:847:403:403:11840:12240 0/1:-499.525,0,-625.499:850:418:391:11199:13014 . . . . 1/1:-1153.75,-169.796,0:677:14:609:17231:261 . . 1/1:-1746.18,-236.305,0:1033:31:917:26043:633 . . . 1/1:-1920.02,-284.029,0:1090:13:994:28595:222 0/1:-321.318,0,-308.32:486:231:238:6847:7068 . . . . . . . . 0/1:-627.192,0,-704.035:1002:485:461:13409:14783 . . . . . 0/1:-509.4,0,-508.53:809:369:392:11169:11005 0/1:-258.229,0,-350.277:530:253:249:6478:7881 0/1:-688.05,0,-666.243:1054:471:508:14206:14678 . . . 0/1:-554.473,0,-616.463:882:410:426:12014:12606 . 0/1:-509.82,0,-536.287:824:393:386:11007:11730 . 0/1:-572.538,0,-727.466:970:475:449:12861:14560 . . . . . 0/1:-332.397,0,-341.622:554:251:274:7568:7618 . . . . . . 0/1:-603.929,0,-528.711:866:398:433:12270:12096 0/1:-341.737,0,-511.453:646:325:279:7757:10084 . . . . . . . . . . . . . . . . . 0/1:-888.034,0,-777.318:882:394:452:13892:12597:394,452 . . 0/1:-639.954,0,-731.725:736:361:349:10263:11629:361,349 . . . . . 0/1:-703.165,0,-702.069:797:372:381:11596:11781:372,381 . . chr19 55668508 . TA TT 16211.15 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=698;CIGAR=1M1X;DP=1415;DPB=748.5;DPRA=0;EPP=26.0192;EPPR=3.44459;GTI=0;LEN=1;MEANALT=8;MQM=36.5845;MQMR=34.6;NS=1;NUMALT=1;ODDS=935.596;PAIRED=0.931232;PAIREDR=0.8;PAO=1.5;PQA=45.5;PQR=45.5;PRO=1.5;QA=21378;QR=148;RO=5;RPL=546;RPP=485.948;RPPR=13.8677;RPR=152;RUN=1;SAF=294;SAP=40.6533;SAR=404;SF=1;SRF=2;SRP=3.44459;SRR=3;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1728,-202.334,0:747:5:698:21378:148:5,698 1/1:-1626.51,-188.446,0:668:3:629:19853:73:3,629 . chr19 55668509 . A T 6309.29 . AB=0;ABP=0;AC=59;AF=1;AN=102;AO=991;CIGAR=1X;DP=47859;DPB=1118;DPRA=0;EPP=4.3798;EPPR=23.7032;GTI=0;LEN=1;MEANALT=3;MQM=27.0555;MQMR=22.5588;NS=1;NUMALT=1;ODDS=1179.61;PAIRED=0.853683;PAIREDR=0.852941;PAO=0;PQA=0;PQR=0;PRO=0;QA=23776;QR=772;RO=34;RPL=769;RPP=658.635;RPPR=4.03217;RPR=222;RUN=1;SAF=394;SAP=93.3072;SAR=597;SF=0,1;SRF=13;SRP=7.09778;SRR=21;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.3162;esp6500siv2_ea=0.1948;esp6500siv2_all=0.3162;esp6500siv2_ea=0.1948;1000g2015aug_all=0.458067;avsnp147=rs3729836;Kaviar_AF=0.283651;Kaviar_AC=43853;Kaviar_AN=154602;ExAC_ALL=0.3537;ExAC_AFR=0.6388;ExAC_AMR=0.5721;ExAC_EAS=0.4650;ExAC_FIN=0.3017;ExAC_NFE=0.2431;ExAC_OTH=0.3745;ExAC_SAS=0.4448;CLNALLELEID=52541;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8539;dpsi_zscore=-1.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3166;gnomAD_exome_AFR=0.6256;gnomAD_exome_AMR=0.4886;gnomAD_exome_ASJ=0.2118;gnomAD_exome_EAS=0.4244;gnomAD_exome_FIN=0.2264;gnomAD_exome_NFE=0.2053;gnomAD_exome_OTH=0.3140;gnomAD_exome_SAS=0.4220;gnomAD_genome_ALL=0.3397;gnomAD_genome_AFR=0.6132;gnomAD_genome_AMR=0.4294;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.4355;gnomAD_genome_FIN=0.2298;gnomAD_genome_NFE=0.1976;gnomAD_genome_OTH=0.2867;Whole_Blood=Whole_Blood::0.269648::0.387885;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1591.1,-260.186,0:1118:34:991:23776:772 . 0/1:-292.838,0,-345.106:577:264:279:6480:7099 0/1:-472.834,0,-493.914:948:422:449:10891:11664 . . 0/1:-471.908,0,-583.032:1017:462:475:10869:12884 . . . 0/1:-462.622,0,-431.099:875:366:423:10365:9998 . . . 1/1:-2322.85,-389.462,0:1539:32:1378:33866:603 . . . . . 0/1:-559.382,0,-521.18:1028:430:518:12272:11890 . . . 0/1:-319.759,0,-429.609:772:361:345:8222:9906 . . 0/1:-251.784,0,-362.194:657:316:286:6861:8124 . . 0/1:-541.029,0,-654.034:1150:518:540:12931:13925 0/1:-415.854,0,-647.272:1041:512:456:10691:14231 0/1:-594.412,0,-537.829:1079:440:541:12932:12445 0/1:-477.441,0,-565.348:938:434:442:10280:11978 . . . . 1/1:-985.491,-166.018,0:694:19:613:14838:358 0/1:-546.526,0,-713.078:1115:527:502:12437:14717 . 1/1:-1846.24,-308.095,0:1212:19:1085:26640:306 . . 0/1:-379.619,0,-620.246:932:459:403:9571:12796 1/1:-1666.88,-298.533,0:1193:22:1042:24800:348 1/1:-861.304,-147.607,0:595:10:529:12527:198 . 0/1:-491.039,0,-878.551:1153:591:488:11514:16793 . 0/1:-384.44,0,-358.94:793:346:386:9444:9093 . 0/1:-640.604,0,-606.135:1180:503:570:13662:13625 0/1:-257.085,0,-345.157:621:308:269:6449:8460 . 0/1:-581.78,0,-606.73:1120:512:532:12886:13767 . . 0/1:-532.904,0,-550.446:1033:443:499:11776:11819 . . 0/1:-452.793,0,-553.605:959:435:463:10737:12081 0/1:-205.513,0,-350.641:576:277:260:6180:7512 0/1:-634.893,0,-628.71:1158:509:573:13674:14001 0/1:-499.679,0,-598.834:1037:463:478:11214:13120 . 0/1:-528.134,0,-488.503:932:390:475:11304:10599 0/1:-521.101,0,-543.467:985:420:487:11621:11636 1/1:-1199,-190.535,0:941:44:796:18740:920 1/1:-1429.23,-247.747,0:1033:28:914:21798:573 . 0/1:-558.987,0,-581.354:1120:483:544:12635:13040 0/1:-183.777,0,-205.543:445:201:206:4879:5527 . . . 0/1:-433.444,0,-616.149:966:485:425:10220:13352 0/1:-287.572,0,-306.446:613:271:291:6906:7454 0/1:-262.557,0,-364.66:594:291:259:6316:8188 0/1:-435.143,0,-692.437:1068:512:449:10537:14334 . . 0/1:-429.672,0,-451.228:849:366:406:9689:10215 . 0/1:-584.53,0,-530.971:1033:436:525:12418:12373 0/1:-274.757,0,-431.441:654:326:279:6743:8924 0/1:-510.953,0,-606.247:1098:499:500:11779:13249 . . 0/1:-597.153,0,-663.339:1183:547:555:13423:15040 . . . . . 0/1:-1002.69,0,-955.507:1064:506:535:16116:15467:506,535 . 0/1:-958.41,0,-777.696:922:415:496:15040:12697:415,496 . 0/1:-718.768,0,-771.671:785:391:383:11473:12120:391,383 . . . 0/1:-902.492,0,-741.103:858:392:456:13964:12146:392,456 . . 0/1:-753.69,0,-638.477:744:342:392:11912:10329:342,392 . 0/1:-860.215,0,-664.528:819:353:460:13424:11082:353,460 0/1:-956.981,0,-1005.73:1043:513:514:15247:15870:513,514 . . . . . chr19 55668992 . G T 1946.46 . AB=0.386581;ABP=72.9553;AC=2;AF=0.5;AN=4;AO=242;CIGAR=1X;DP=859;DPB=626;DPRA=0;EPP=14.6393;EPPR=77.3468;GTI=0;LEN=1;MEANALT=3;MQM=30.4835;MQMR=31.4504;NS=1;NUMALT=1;ODDS=460.898;PAIRED=0.884298;PAIREDR=0.879357;PAO=0;PQA=0;PQR=0;PRO=0;QA=5622;QR=10798;RO=373;RPL=170;RPP=89.1872;RPPR=39.3432;RPR=72;RUN=1;SAF=85;SAP=49.5265;SAR=157;SF=0,1;SRF=126;SRP=88.245;SRR=247;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=TNNI3;GeneDetail.refGene=NM_000363:c.-35C>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0727;esp6500siv2_ea=0.0033;esp6500siv2_all=0.0727;esp6500siv2_ea=0.0033;1000g2015aug_all=0.076877;avsnp147=rs3729707;Kaviar_AF=0.0224318;Kaviar_AC=3468;Kaviar_AN=154602;ExAC_ALL=0.0234;ExAC_AFR=0.2367;ExAC_AMR=0.0157;ExAC_EAS=0.0036;ExAC_FIN=0.0003;ExAC_NFE=0.0029;ExAC_OTH=0.0145;ExAC_SAS=0.0052;CLNALLELEID=141390;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0196;gnomAD_exome_AFR=0.2392;gnomAD_exome_AMR=0.0148;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0.0032;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0143;gnomAD_exome_SAS=0.0051;gnomAD_genome_ALL=0.0671;gnomAD_genome_AFR=0.2306;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0164;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-228.322,0,-603.866:626:373:242:5622:10798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-175.474,0,-244.394:233:121:111:2906:3712:121,111 . chr19 55669004 . G A 2532.73 . AB=0.453686;ABP=12.8661;AC=3;AF=0.5;AN=6;AO=240;CIGAR=1X;DP=1811;DPB=529;DPRA=0;EPP=5.32654;EPPR=3.85196;GTI=0;LEN=1;MEANALT=3;MQM=29.9208;MQMR=30.7132;NS=1;NUMALT=1;ODDS=613.986;PAIRED=0.9125;PAIREDR=0.883721;PAO=0;PQA=0;PQR=0;PRO=0;QA=5954;QR=7607;RO=258;RPL=171;RPP=97.1436;RPPR=74.2481;RPR=69;RUN=1;SAF=81;SAP=58.0571;SAR=159;SF=0;SRF=81;SRP=80.5773;SRR=177;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=TNNI3;GeneDetail.refGene=NM_000363:c.-47C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0094;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0094;1000g2015aug_all=0.00259585;avsnp147=rs202159627;Kaviar_AF=0.0074579;Kaviar_AC=1153;Kaviar_AN=154602;ExAC_ALL=0.0074;ExAC_AFR=0.0016;ExAC_AMR=0.0049;ExAC_EAS=0;ExAC_FIN=0.0057;ExAC_NFE=0.0113;ExAC_OTH=0.0067;ExAC_SAS=0.0014;CLNALLELEID=186585;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0069;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0049;gnomAD_exome_ASJ=0.0147;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0046;gnomAD_exome_NFE=0.0105;gnomAD_exome_OTH=0.0082;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0057;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0086;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-289.594,0,-400.266:529:258:240:5954:7607 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-227.391,0,-502.729:593:326:221:5419:9438 . . . . . . . . . . . . . . . . . . . . 0/1:-318.387,0,-557.7:689:355:279:7013:10381 . . . . . . . . . . . . . . . . . . . . . . . . . chr2 39213258 . G T 3077.70 . AB=0.449772;ABP=12.6084;AC=1;AF=0.5;AN=2;AO=197;CIGAR=1X;DP=438;DPB=438;DPRA=0;EPP=3.1095;EPPR=3.16006;GTI=0;LEN=1;MEANALT=3;MQM=36.2183;MQMR=35.694;NS=1;NUMALT=1;ODDS=708.667;PAIRED=0.959391;PAIREDR=0.956897;PAO=0;PQA=0;PQR=0;PRO=0;QA=5467;QR=6850;RO=232;RPL=101;RPP=3.28587;RPPR=3.60933;RPR=96;RUN=1;SAF=80;SAP=18.1004;SAR=117;SF=0;SRF=98;SRP=15.1406;SRR=134;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon23:c.C3709A:p.P1237T;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs371408734;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=9.068e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0007;CLNALLELEID=54534;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.75;MutationAssessor_pred=L;FATHMM_score=-1.01;FATHMM_pred=T;PROVEAN_score=-2.76;PROVEAN_pred=D;VEST3_score=0.515;CADD_raw=3.587;CADD_phred=23.2;DANN_score=0.996;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_pred=D;MetaSVM_score=0.172;MetaSVM_pred=D;MetaLR_score=0.634;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.8;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=20.059;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.983e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-317.089,0,-423.696:438:232:197:5467:6850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 39241107 . G A 7694.61 . AB=0.418564;ABP=35.9018;AC=6;AF=0.5;AN=12;AO=239;CIGAR=1X;DP=4732;DPB=571;DPRA=0;EPP=8.68884;EPPR=59.0449;GTI=0;LEN=1;MEANALT=2;MQM=40.8787;MQMR=41.372;NS=1;NUMALT=1;ODDS=1103.22;PAIRED=0.970711;PAIREDR=0.996951;PAO=0;PQA=0;PQR=0;PRO=0;QA=7722;QR=10682;RO=328;RPL=101;RPP=15.4486;RPPR=41.2494;RPR=138;RUN=1;SAF=169;SAP=92.0588;SAR=70;SF=0,1;SRF=252;SRP=208.082;SRR=76;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon12:c.C1964T:p.P655L;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0098;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0098;1000g2015aug_all=0.00319489;avsnp147=rs56219475;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;ExAC_ALL=0.0079;ExAC_AFR=0.0020;ExAC_AMR=0.0026;ExAC_EAS=0;ExAC_FIN=0.0116;ExAC_NFE=0.0122;ExAC_OTH=0.0045;ExAC_SAS=0.0009;CLNALLELEID=49162;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.309;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.065;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.315;MutationAssessor_pred=N;FATHMM_score=0.84;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_pred=N;VEST3_score=0.352;CADD_raw=1.732;CADD_phred=14.59;DANN_score=0.790;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.067;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.82;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.088;GDI_full_10282015=.;dpsi_max_tissue=-0.2720;dpsi_zscore=-0.811;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM070277#"Reduced_activity";gnomAD_exome_ALL=0.0075;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0042;gnomAD_exome_ASJ=0.0049;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0122;gnomAD_exome_NFE=0.0116;gnomAD_exome_OTH=0.0053;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0042;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0166;gnomAD_genome_NFE=0.0103;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-500.449,0,-762.727:571:328:239:7722:10682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-893.823,0,-1165.84:938:512:419:13526:16633 . . 0/1:-1001.63,0,-1159.22:986:519:460:14873:16656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-873.062,0,-915.93:820:411:405:12848:13364 . . . 0/1:-829.472,0,-857.998:777:390:381:12172:12455 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-699.338,0,-750.229:640:328:310:10178:10859:328,310 . . . . . . . . . . . . . . chr2 39250386 . A G 3993.39 . AB=0.523614;ABP=5.36905;AC=4;AF=0.5;AN=8;AO=255;CIGAR=1X;DP=1930;DPB=487;DPRA=0;EPP=12.2838;EPPR=3.02022;GTI=0;LEN=1;MEANALT=3;MQM=39.1961;MQMR=40.137;NS=1;NUMALT=1;ODDS=953.124;PAIRED=0.972549;PAIREDR=0.977169;PAO=0;PQA=0;PQR=0;PRO=0;QA=7167;QR=6746;RO=219;RPL=192;RPP=144.718;RPPR=148.182;RPR=63;RUN=1;SAF=103;SAP=23.4562;SAR=152;SF=0,1;SRF=85;SRP=26.8172;SRR=134;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0077;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0077;1000g2015aug_all=0.00778754;avsnp147=rs112906251;Kaviar_AF=0.0091396;Kaviar_AC=1413;Kaviar_AN=154602;ExAC_ALL=0.0093;ExAC_AFR=0.0100;ExAC_AMR=0.0162;ExAC_EAS=0;ExAC_FIN=0.0179;ExAC_NFE=0.0100;ExAC_OTH=0.0293;ExAC_SAS=0.0020;CLNALLELEID=142938;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0854;dpsi_zscore=-0.403;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0093;gnomAD_exome_AFR=0.0094;gnomAD_exome_AMR=0.0137;gnomAD_exome_ASJ=0.0114;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0178;gnomAD_exome_NFE=0.0089;gnomAD_exome_OTH=0.0234;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0104;gnomAD_genome_AFR=0.0112;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0160;gnomAD_genome_NFE=0.0091;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-467.806,0,-439.448:487:219:255:7167:6746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-590.077,0,-807.96:725:381:326:9257:11971 . 0/1:-315.515,0,-503.653:447:239:196:5331:7343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-270.271,0,-302.806:271:138:129:3990:4509:138,129 chr2 39262348 . C G 4914.95 . AB=0.466772;ABP=9.07118;AC=1;AF=0.5;AN=2;AO=295;CIGAR=1X;DP=632;DPB=632;DPRA=0;EPP=4.66651;EPPR=3.12611;GTI=0;LEN=1;MEANALT=3;MQM=35.322;MQMR=36.72;NS=1;NUMALT=1;ODDS=1131.71;PAIRED=0.850847;PAIREDR=0.856667;PAO=0;PQA=0;PQR=0;PRO=0;QA=8946;QR=9207;RO=300;RPL=235;RPP=228.439;RPPR=161.557;RPR=60;RUN=1;SAF=161;SAP=8.37641;SAR=134;SF=0;SRF=174;SRP=19.6872;SRR=126;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0081;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0081;1000g2015aug_all=0.00279553;avsnp147=rs145155424;Kaviar_AF=0.0076519;Kaviar_AC=1183;Kaviar_AN=154602;ExAC_ALL=0.0098;ExAC_AFR=0.0017;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0075;ExAC_NFE=0.0164;ExAC_OTH=0.0092;ExAC_SAS=0.0002;CLNALLELEID=54510;CLNDN=Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-8.3430;dpsi_zscore=-2.811;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0067;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0071;gnomAD_exome_NFE=0.0117;gnomAD_exome_OTH=0.0068;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0096;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0087;gnomAD_genome_NFE=0.0155;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-523.693,0,-567.932:632:300:295:8946:9207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 39281832 . A G 2640.71 . AB=0.418803;ABP=16.4103;AC=2;AF=0.5;AN=4;AO=98;CIGAR=1X;DP=593;DPB=234;DPRA=0;EPP=72.4974;EPPR=178.866;GTI=0;LEN=1;MEANALT=3;MQM=41.1633;MQMR=41.7863;NS=1;NUMALT=1;ODDS=405.692;PAIRED=0.918367;PAIREDR=0.946565;PAO=0;PQA=0;PQR=0;PRO=0;QA=2986;QR=4183;RO=131;RPL=41;RPP=8.68272;RPPR=10.3204;RPR=57;RUN=1;SAF=52;SAP=3.80798;SAR=46;SF=1;SRF=67;SRP=3.15949;SRR=64;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon5:c.T643C:p.Y215H;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730881039;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.478e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=179038;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.486;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.614;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.195;MutationAssessor_pred=M;FATHMM_score=-1.76;FATHMM_pred=D;PROVEAN_score=-3.55;PROVEAN_pred=D;VEST3_score=0.857;CADD_raw=5.737;CADD_phred=26.9;DANN_score=0.998;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=0.319;MetaSVM_pred=D;MetaLR_score=0.648;MetaLR_pred=D;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.88;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.279;GDI_full_10282015=.;dpsi_max_tissue=0.4724;dpsi_zscore=1.104;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.876e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.479e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.499e-05;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-191.729,0,-299.553:234:131:98:2986:4183:131,98 0/1:-371.331,0,-374.09:359:180:176:5457:5513:180,176 . . . . . . . . . . . . . . . chr2 39281905 . G A 6094.90 . AB=0.461923;ABP=13.0978;AC=2;AF=0.5;AN=4;AO=370;CIGAR=1X;DP=1355;DPB=801;DPRA=0;EPP=145.834;EPPR=137.346;GTI=0;LEN=1;MEANALT=3;MQM=40.2838;MQMR=40.2983;NS=1;NUMALT=1;ODDS=1632.04;PAIRED=0.986486;PAIREDR=0.976134;PAO=0;PQA=0;PQR=0;PRO=0;QA=11767;QR=13232;RO=419;RPL=287;RPP=247.248;RPPR=294.107;RPR=83;RUN=1;SAF=96;SAP=188.959;SAR=274;SF=0;SRF=128;SRP=140.704;SRR=291;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon5:c.C570T:p.D190D;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=0.0035;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0035;esp6500siv2_ea=0.0045;1000g2015aug_all=0.000998403;avsnp147=rs55980502;Kaviar_AF=0.0022703;Kaviar_AC=351;Kaviar_AN=154602;ExAC_ALL=0.0025;ExAC_AFR=0.0004;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0073;ExAC_NFE=0.0035;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=49125;CLNDN=Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7276;dpsi_zscore=-1.292;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0063;gnomAD_exome_NFE=0.0036;gnomAD_exome_OTH=0.0036;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0083;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-776.934,0,-904.882:801:419:370:11767:13232 . . . . . . 0/1:-550.639,0,-599.723:554:285:261:8321:8813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 39281922 . T C 7950.59 . AB=0.493268;ABP=3.3319;AC=1;AF=0.5;AN=2;AO=403;CIGAR=1X;DP=817;DPB=817;DPRA=0;EPP=113.195;EPPR=119.445;GTI=0;LEN=1;MEANALT=3;MQM=40.0422;MQMR=40.2705;NS=1;NUMALT=1;ODDS=1737.46;PAIRED=0.950372;PAIREDR=0.970223;PAO=0;PQA=0;PQR=0;PRO=0;QA=12870;QR=12390;RO=403;RPL=308;RPP=247.471;RPPR=270.964;RPR=95;RUN=1;SAF=101;SAP=220.702;SAR=302;SF=0;SRF=106;SRP=199.58;SRR=297;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon5:c.A553G:p.I185V;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000599042;avsnp147=rs143962515;Kaviar_AF=0.0003493;Kaviar_AC=54;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0022;ExAC_SAS=6.058e-05;CLNALLELEID=54541;CLNDN=Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.384;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.096;LRT_pred=N;MutationTaster_score=0.976;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=-0.89;FATHMM_pred=T;PROVEAN_score=-0.26;PROVEAN_pred=N;VEST3_score=0.077;CADD_raw=-0.011;CADD_phred=2.483;DANN_score=0.778;fathmm-MKL_coding_score=0.124;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.430;MetaSVM_pred=T;MetaLR_score=0.469;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.46;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.153;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=8.457;GDI_full_10282015=.;dpsi_max_tissue=1.5425;dpsi_zscore=1.797;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0048;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.272e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-862.424,0,-822.906:817:403:403:12870:12390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 39347525 . T C 100.89 . AB=0.464286;ABP=3.32051;AC=1;AF=0.5;AN=2;AO=13;CIGAR=1X;DP=28;DPB=28;DPRA=0;EPP=7.18621;EPPR=3.17734;GTI=0;LEN=1;MEANALT=2;MQM=31.4615;MQMR=32.6154;NS=1;NUMALT=1;ODDS=21.4708;PAIRED=0.846154;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=354;QR=270;RO=13;RPL=12;RPP=23.2217;RPPR=7.18621;RPR=1;RUN=1;SAF=5;SAP=4.51363;SAR=8;SF=0;SRF=4;SRP=7.18621;SRR=9;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon1:c.A39G:p.E13E;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs763337946;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=9.991e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.825e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=266828;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.179e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.834e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.247e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.684e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-17.5616,0,-14.9314:28:13:13:354:270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 47387949 . AAAGAAGAAGT AAAGAAGT 468.17 . AB=0.238532;ABP=132.462;AC=1;AF=0.5;AN=2;AO=52;CIGAR=1M3D7M;DP=218;DPB=201.273;DPRA=0;EPP=3.17734;EPPR=17.0198;GTI=0;LEN=3;MEANALT=77;MQM=34.6346;MQMR=33.6452;NS=1;NUMALT=1;ODDS=107.799;PAIRED=0.865385;PAIREDR=0.935484;PAO=3.5;PQA=88.5;PQR=88.5;PRO=3.5;QA=1129;QR=1805;RO=62;RPL=44;RPP=57.1301;RPPR=30.4689;RPR=8;RUN=1;SAF=31;SAP=7.18621;SAR=21;SF=0;SRF=38;SRP=9.87495;SRR=24;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775247848;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=9.911e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=392694;CLNDN=Long_QT_syndrome_1|not_specified;CLNDISDB=MedGen:C0035828,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.568e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.062e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-59.2549,0,-99.2455:218:62:52:1129:1805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 47387986 . G T,A 33.30 . AB=0.265823;ABP=78.2697;AC=1,1;AF=0.5;AN=4;AO=42;CIGAR=1X;DP=312;DPB=158;DPRA=0;EPP=70.0157;EPPR=41.6397;GTI=1;LEN=1;MEANALT=3;MQM=23.7381;MQMR=25.1579;NS=1;NUMALT=1;ODDS=9.8338;PAIRED=0.833333;PAIREDR=0.894737;PAO=0;PQA=0;PQR=0;PRO=0;QA=624;QR=731;RO=38;RPL=13;RPP=16.2459;RPPR=25.8679;RPR=29;RUN=1;SAF=10;SAP=28.0339;SAR=32;SF=0;SRF=25;SRP=11.239;SRR=13;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756177494;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0037;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0032;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0105;gnomAD_exome_AMR=0.05;gnomAD_exome_ASJ=0.0189;gnomAD_exome_EAS=0.0088;gnomAD_exome_FIN=0.0055;gnomAD_exome_NFE=0.0110;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0082;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0050;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-21.1827,0,-26.3996,.,.,.:158:38:42,.:624,.:731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-29.6623,.,.,0,.,-36.0081:154:42:.,50:.,744:801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 47387988 . CCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC CCAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,AAAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CCAAAAAAAAAAAAAAAAAAAATCACATTTACTC 166.22 . AB=0;ABP=0;AC=6,2,2,0;AF=1;AN=10;AO=12;CIGAR=2M3D33M;DP=798;DPB=169.842;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=3;MEANALT=120;MQM=23.3333;MQMR=0;NS=1;NUMALT=1;ODDS=7.73503;PAIRED=0.666667;PAIREDR=0;PAO=9.66667;PQA=208;PQR=281;PRO=13.6667;QA=188;QR=0;RO=0;RPL=6;RPP=3.0103;RPPR=0;RPR=6;RUN=1;SAF=0;SAP=29.068;SAR=12;SF=1;SRF=0;SRP=0;SRR=0;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs55773607;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0830;ExAC_AFR=0.0697;ExAC_AMR=0.1364;ExAC_EAS=0.1610;ExAC_FIN=.;ExAC_NFE=0.0770;ExAC_OTH=0.1667;ExAC_SAS=0.0625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0038;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762347030;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;ExAC_ALL=0.1550;ExAC_AFR=0.1475;ExAC_AMR=0.1818;ExAC_EAS=0.1949;ExAC_FIN=.;ExAC_NFE=0.1532;ExAC_OTH=0.125;ExAC_SAS=0.1458;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-9.64955,-25.3766,0,.,.,.,.,.,.,.,.,.,.,.,.:170:0:12,.,.,.:188,.,.,.:0:0,12 . 2/2:-43.1215,.,.,-21.237,.,0,.,.,.,.,.,.,.,.,.:134:3:.,7,.,.:.,162,.,.:91:3,7 1/1:-1.85311,-18.319,0,.,.,.,.,.,.,.,-18.5346,-19.0901,.,.,-1.72075:136:1:12,.,.,7:124,.,.,95:26:1,12,7 3/3:-38.5797,.,.,.,.,.,-62.1085,.,.,0,.,.,.,.,.:197:0:.,.,11,.:.,.,184,.:0:0,11 . . . . . . . 1/1:-14.7574,-30.3913,0,.,.,.,.,.,.,.,.,.,.,.,.:161:0:16,.,.,.:245,.,.,.:0:0,16 . chr2 47387989 . C A 38.20 . AB=0.39548;ABP=19.8055;AC=2;AF=0.5;AN=4;AO=70;CIGAR=1X;DP=384;DPB=177;DPRA=0;EPP=155.013;EPPR=179.29;GTI=0;LEN=1;MEANALT=2;MQM=28.0429;MQMR=23.6292;NS=1;NUMALT=1;ODDS=9.04605;PAIRED=0.714286;PAIREDR=0.831461;PAO=0;PQA=0;PQR=0;PRO=0;QA=1064;QR=1626;RO=89;RPL=22;RPP=23.9805;RPPR=18.2594;RPR=48;RUN=1;SAF=22;SAP=23.9805;SAR=48;SF=0;SRF=57;SRP=18.2594;SRR=32;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-34.968,0,-55.853:177:89:70:1064:1626 . . . . . . . . . . . . . . . . . 0/1:-45.0122,0,-55.2992:207:98:90:1352:1687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 47388844 . T C 761.16 . AB=0.42623;ABP=8.77716;AC=1;AF=0.5;AN=2;AO=52;CIGAR=1X;DP=122;DPB=122;DPRA=0;EPP=7.18621;EPPR=15.0703;GTI=0;LEN=1;MEANALT=2;MQM=39.7115;MQMR=41.6308;NS=1;NUMALT=1;ODDS=175.264;PAIRED=0.942308;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1399;QR=1888;RO=65;RPL=13;RPP=31.2394;RPPR=20.6827;RPR=39;RUN=1;SAF=34;SAP=13.7006;SAR=18;SF=0;SRF=44;SRP=20.6827;SRR=21;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0067;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0067;1000g2015aug_all=0.0521166;avsnp147=rs2016682;Kaviar_AF=0.0399219;Kaviar_AC=6172;Kaviar_AN=154602;ExAC_ALL=0.0446;ExAC_AFR=0.0035;ExAC_AMR=0.2014;ExAC_EAS=0.0271;ExAC_FIN=0.0057;ExAC_NFE=0.0074;ExAC_OTH=0.0380;ExAC_SAS=0.1405;CLNALLELEID=366604;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5746;dpsi_zscore=1.205;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0466;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.1880;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0.0248;gnomAD_exome_FIN=0.0056;gnomAD_exome_NFE=0.0069;gnomAD_exome_OTH=0.0319;gnomAD_exome_SAS=0.1256;gnomAD_genome_ALL=0.0113;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.1587;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0173;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0071;gnomAD_genome_OTH=0.0266;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-86.8053,0,-131.368:122:65:52:1399:1888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 47403612 . G A 3388.25 . AB=0.458537;ABP=12.194;AC=1;AF=0.5;AN=2;AO=282;CIGAR=1X;DP=615;DPB=615;DPRA=0;EPP=3.1335;EPPR=3.88322;GTI=0;LEN=1;MEANALT=3;MQM=29.9965;MQMR=30.5615;NS=1;NUMALT=1;ODDS=780.172;PAIRED=0.939716;PAIREDR=0.847176;PAO=0;PQA=0;PQR=0;PRO=0;QA=7435;QR=9003;RO=301;RPL=215;RPP=171.677;RPPR=330.311;RPR=67;RUN=1;SAF=98;SAP=59.9614;SAR=184;SF=0;SRF=111;SRP=48.0341;SRR=190;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALM2:NM_001305624:exon1:c.C69T:p.V23V;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000199681;avsnp147=rs200169692;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0012;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.964e-05;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-369.86,0,-477.886:615:301:282:7435:9003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 47403626 . T G 2364.62 . AB=0.46729;ABP=6.98795;AC=4;AF=0.5;AN=8;AO=200;CIGAR=1X;DP=1758;DPB=428;DPRA=0;EPP=5.13834;EPPR=4.22112;GTI=0;LEN=1;MEANALT=3;MQM=28.285;MQMR=31.1521;NS=1;NUMALT=1;ODDS=516.737;PAIRED=0.93;PAIREDR=0.903226;PAO=0;PQA=0;PQR=0;PRO=0;QA=5154;QR=6153;RO=217;RPL=150;RPP=111.584;RPPR=117.578;RPR=50;RUN=1;SAF=71;SAP=39.5345;SAR=129;SF=0,1;SRF=70;SRP=62.3405;SRR=147;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALM2:NM_001305624:exon1:c.A55C:p.S19R;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.515;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.85;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_pred=N;VEST3_score=0.111;CADD_raw=2.126;CADD_phred=17.02;DANN_score=0.957;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.806;MetaSVM_pred=T;MetaLR_score=0.243;MetaLR_pred=T;integrated_fitCons_score=0.468;integrated_confidence_value=2;GERP++_RS=4.3;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.087;phastCons20way_mammalian=0.525;SiPhy_29way_logOdds=4.913;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.103e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.287e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-246.92,0,-329.873:428:217:200:5154:6153 . . . . . . . 0/1:-205.023,0,-263.035:370:182:174:4583:5135 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-361.825,0,-435.616:433:228:200:5918:6862:228,200 . . 0/1:-505.519,0,-460.484:527:249:274:7978:7424:249,274 . . . . . chr2 105977761 . G A 9515.33 . AB=0.444295;ABP=23.0899;AC=56;AF=0.5;AN=96;AO=331;CIGAR=1X;DP=38042;DPB=745;DPRA=0;EPP=10.1545;EPPR=3.14985;GTI=0;LEN=1;MEANALT=3;MQM=38;MQMR=38.617;NS=1;NUMALT=1;ODDS=1283.32;PAIRED=0.957704;PAIREDR=0.943445;PAO=0;PQA=0;PQR=0;PRO=0;QA=9402;QR=11724;RO=389;RPL=180;RPP=8.52755;RPPR=3.68575;RPR=151;RUN=1;SAF=132;SAP=32.4597;SAR=199;SF=0,1;SRF=164;SRP=23.7816;SRR=225;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001450:exon6:c.C819T:p.P273P,FHL2:NM_201557:exon6:c.C819T:p.P273P,FHL2:NM_001039492:exon7:c.C819T:p.P273P,FHL2:NM_201555:exon8:c.C819T:p.P273P;cytoBand=2q12.1;genomicSuperDups=.;esp6500siv2_all=0.1644;esp6500siv2_ea=0.1959;esp6500siv2_all=0.1644;esp6500siv2_ea=0.1959;1000g2015aug_all=0.111422;avsnp147=rs11124029;Kaviar_AF=0.157094;Kaviar_AC=24287;Kaviar_AN=154602;ExAC_ALL=0.1567;ExAC_AFR=0.0996;ExAC_AMR=0.0803;ExAC_EAS=0.0243;ExAC_FIN=0.2430;ExAC_NFE=0.1934;ExAC_OTH=0.1839;ExAC_SAS=0.1312;CLNALLELEID=57494;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1593;gnomAD_exome_AFR=0.0991;gnomAD_exome_AMR=0.0907;gnomAD_exome_ASJ=0.2142;gnomAD_exome_EAS=0.0255;gnomAD_exome_FIN=0.2473;gnomAD_exome_NFE=0.1935;gnomAD_exome_OTH=0.1756;gnomAD_exome_SAS=0.1307;gnomAD_genome_ALL=0.1609;gnomAD_genome_AFR=0.1045;gnomAD_genome_AMR=0.1014;gnomAD_genome_ASJ=0.2384;gnomAD_genome_EAS=0.0228;gnomAD_genome_FIN=0.2424;gnomAD_genome_NFE=0.1913;gnomAD_genome_OTH=0.1640;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-569.478,0,-768.51:745:389:331:9402:11724 0/1:-897.305,0,-895.577:982:468:489:14218:13994 0/1:-797.638,0,-799.698:864:402:434:12540:12393 0/1:-456.121,0,-483.159:492:238:235:7061:7415 0/1:-735.918,0,-804.116:824:395:401:11700:12245 1/1:-2422.06,-261.938,0:1010:15:969:28963:425 . . . . 0/1:-642.354,0,-803.38:793:407:357:10404:12219 . 0/1:-509.445,0,-730.168:697:368:305:8448:10976 0/1:-623.96,0,-604.582:677:325:331:9873:9601 0/1:-630.848,0,-613.466:660:308:332:9678:9626 . . . 0/1:-771.585,0,-807.116:828:402:398:11901:12282 . . . 0/1:-434.587,0,-409.065:476:227:227:6732:6767 0/1:-831.64,0,-1038.16:971:501:444:13063:15415 . . . 0/1:-676.687,0,-752.739:767:373:374:10729:11464 . 0/1:-657.927,0,-669.317:706:341:342:10151:10362 . . 1/1:-2057.16,-224.428,0:839:8:811:24349:257 0/1:-623.409,0,-786.92:771:392:355:10159:12061 . . . 1/1:-2296.08,-263.551,0:935:7:909:27176:158 . . 0/1:-895.801,0,-992.648:1000:496:483:14213:15183 . 0/1:-766.863,0,-786.97:830:394:413:11975:12017 . 0/1:-888.778,0,-1115.71:1051:546:477:14002:16822 1/1:-2145.4,-230.508,0:918:16:878:25678:449 0/1:-747.999,0,-752.482:792:377:387:11448:11651 1/1:-1038.32,-124.518,0:436:2:420:12286:28 . 0/1:-777.28,0,-1041.84:977:512:432:12351:15787 1/1:-1996.93,-230.855,0:834:6:807:23574:193 . 0/1:-1031.94,0,-858.794:1002:449:527:15535:13574 0/1:-808.588,0,-843.159:887:426:434:12659:13239 . 0/1:-608.378,0,-522.49:593:278:302:9183:8471 . . 0/1:-438.582,0,-523.571:539:271:250:7073:8146 . . 0/1:-921.06,0,-953.498:993:477:484:14305:14810 . 0/1:-465.148,0,-521.546:564:274:264:7544:8182 0/1:-939.642,0,-805.417:929:421:491:14223:12872 . . 0/1:-764.824,0,-836.463:861:430:400:12103:12878 . . 0/1:-819.83,0,-642.449:785:344:424:12404:10347 0/1:-973.882,0,-935.772:980:463:493:14858:14360 . 0/1:-370.492,0,-439.396:489:246:225:6364:7218 . 0/1:-867.834,0,-825.681:967:440:484:13684:13057 . . 0/1:-417.413,0,-590.413:531:286:233:6799:8806 . 0/1:-700.637,0,-846.59:861:429:403:11527:13111 0/1:-997.377,0,-783.347:949:415:510:15029:12561 . . . . 0/1:-660.793,0,-604.28:706:329:357:10223:9606 . . . . 0/1:-710.199,0,-616.732:701:312:368:10723:9618 . . . . . . . . 0/1:-572.011,0,-781.888:652:361:286:8923:11281:361,286 . 1/1:-1778.47,-161.313,0:712:19:685:21266:581:19,685 . . . . . . . . . 1/1:-2487.34,-238.164,0:969:20:934:29540:553:20,934 0/1:-854.803,0,-750.24:775:363:397:12497:11470:363,397 0/1:-797.591,0,-746.22:722:345:366:11624:11074:345,366 . chr2 105977776 . G A 7877.95 . AB=0.504868;ABP=3.15829;AC=18;AF=0.5;AN=34;AO=363;CIGAR=1X;DP=13161;DPB=719;DPRA=0;EPP=50.3939;EPPR=61.8904;GTI=0;LEN=1;MEANALT=3;MQM=37.8347;MQMR=39.3804;NS=1;NUMALT=1;ODDS=1565.98;PAIRED=0.955923;PAIREDR=0.951009;PAO=0;PQA=0;PQR=0;PRO=0;QA=10969;QR=11222;RO=347;RPL=154;RPP=21.1059;RPPR=13.5297;RPR=209;RUN=1;SAF=176;SAP=3.73412;SAR=187;SF=0,1;SRF=165;SRP=4.81882;SRR=182;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001450:exon6:c.C804T:p.D268D,FHL2:NM_201557:exon6:c.C804T:p.D268D,FHL2:NM_001039492:exon7:c.C804T:p.D268D,FHL2:NM_201555:exon8:c.C804T:p.D268D;cytoBand=2q12.1;genomicSuperDups=.;esp6500siv2_all=0.0929;esp6500siv2_ea=0.1270;esp6500siv2_all=0.0929;esp6500siv2_ea=0.1270;1000g2015aug_all=0.0517173;avsnp147=rs3087523;Kaviar_AF=0.0922368;Kaviar_AC=14260;Kaviar_AN=154602;ExAC_ALL=0.0913;ExAC_AFR=0.0222;ExAC_AMR=0.0970;ExAC_EAS=0.0274;ExAC_FIN=0.0915;ExAC_NFE=0.1184;ExAC_OTH=0.0958;ExAC_SAS=0.0542;CLNALLELEID=57493;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0938;gnomAD_exome_AFR=0.0222;gnomAD_exome_AMR=0.0989;gnomAD_exome_ASJ=0.0917;gnomAD_exome_EAS=0.0255;gnomAD_exome_FIN=0.0969;gnomAD_exome_NFE=0.1223;gnomAD_exome_OTH=0.1068;gnomAD_exome_SAS=0.0550;gnomAD_genome_ALL=0.0853;gnomAD_genome_AFR=0.0282;gnomAD_genome_AMR=0.1029;gnomAD_genome_ASJ=0.0894;gnomAD_genome_EAS=0.0247;gnomAD_genome_FIN=0.1110;gnomAD_genome_NFE=0.1172;gnomAD_genome_OTH=0.0961;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-694.49,0,-737.986:719:347:363:10969:11222 . . . 0/1:-756.853,0,-715.102:750:358:373:11499:11387 0/1:-617.427,0,-681.138:672:344:313:9658:10727 . . 0/1:-601.633,0,-637.532:632:311:314:9436:9824 . . . . . . . . . . . . . 0/1:-550.109,0,-783.666:670:368:293:8971:11706 . . . . . 0/1:-853.437,0,-786.691:837:383:439:13227:12301 . 0/1:-621.555,0,-859.723:770:415:343:10033:13009 . . 0/1:-696.356,0,-670.053:677:327:340:10648:10296 . 1/1:-1931.77,-196.027,0:819:18:793:23494:619 . . . . . . . . . . . . . . . . . . . . 0/1:-856.725,0,-1086.39:974:508:450:13617:16348 0/1:-875.32,0,-896.683:891:438:442:13464:14013 . . . . 0/1:-674.802,0,-943.328:812:441:358:10914:14107 . . . . . 0/1:-787.109,0,-1031.55:913:485:407:12487:15545 . . . . . . . 0/1:-648.588,0,-690.935:696:334:346:10154:10709 . 0/1:-605.796,0,-732.516:686:355:323:9670:11236 0/1:-780.444,0,-783.746:800:388:402:12183:12200 . . . . . . . . . . . . . . . . . . 0/1:-878.544,0,-901.749:843:425:410:13082:13455:425,410 . . . . . . . . . chr2 105977903 . G C 7450.53 . AB=0.451883;ABP=17.4292;AC=30;AF=0.5;AN=58;AO=324;CIGAR=1X;DP=23433;DPB=717;DPRA=0;EPP=138.151;EPPR=107.603;GTI=0;LEN=1;MEANALT=3;MQM=38.3241;MQMR=39.3047;NS=1;NUMALT=1;ODDS=1272.99;PAIRED=0.987654;PAIREDR=0.976562;PAO=0;PQA=0;PQR=0;PRO=0;QA=9328;QR=11518;RO=384;RPL=168;RPP=3.9754;RPPR=5.27225;RPR=156;RUN=1;SAF=183;SAP=14.8328;SAR=141;SF=0,1;SRF=222;SRP=23.3679;SRR=162;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q12.1;genomicSuperDups=.;esp6500siv2_all=0.2033;esp6500siv2_ea=0.1364;esp6500siv2_all=0.2033;esp6500siv2_ea=0.1364;1000g2015aug_all=0.305511;avsnp147=rs2244182;Kaviar_AF=0.200567;Kaviar_AC=31008;Kaviar_AN=154602;ExAC_ALL=0.2072;ExAC_AFR=0.3415;ExAC_AMR=0.3086;ExAC_EAS=0.5627;ExAC_FIN=0.1355;ExAC_NFE=0.1310;ExAC_OTH=0.2140;ExAC_SAS=0.2010;CLNALLELEID=57491;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2080;gnomAD_exome_AFR=0.3463;gnomAD_exome_AMR=0.2857;gnomAD_exome_ASJ=0.1334;gnomAD_exome_EAS=0.5633;gnomAD_exome_FIN=0.1359;gnomAD_exome_NFE=0.1332;gnomAD_exome_OTH=0.1928;gnomAD_exome_SAS=0.1991;gnomAD_genome_ALL=0.2200;gnomAD_genome_AFR=0.3271;gnomAD_genome_AMR=0.2572;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.5662;gnomAD_genome_FIN=0.1366;gnomAD_genome_NFE=0.1422;gnomAD_genome_OTH=0.1894;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-576.059,0,-769.673:717:384:324:9328:11518 0/1:-906.38,0,-880.804:948:457:474:13857:13633 . . . . 0/1:-628.975,0,-703.951:716:352:339:9777:10729 . . 0/1:-751.166,0,-888.501:878:445:420:11900:13362 . 0/1:-709.665,0,-742.902:777:381:384:11013:11297 . . . . . . . . . 1/1:-2230.52,-232.161,0:920:18:887:26348:468 . . . . . . . . . 0/1:-1086.97,0,-1072.36:1113:538:552:16418:16350 . . 0/1:-712.624,0,-803.797:818:404:389:11153:12143 0/1:-795.261,0,-964.383:947:491:438:12616:14432 0/1:-614.537,0,-758.954:727:380:330:9702:11385 . . 0/1:-431.705,0,-423.599:455:218:227:6615:6594 0/1:-921.99,0,-1038.8:1057:527:511:14384:15786 . . . 0/1:-924.294,0,-1052.16:1071:541:507:14561:15924 . 0/1:-703.042,0,-851.008:837:441:385:11226:12913 . . . . . . . 0/1:-524.224,0,-653.939:642:336:288:8360:9972 . 0/1:-749.425,0,-890.83:875:457:407:11754:13396 . . 0/1:-787.613,0,-896.801:894:449:420:12241:13577 . . . . . . . 0/1:-728.181,0,-837.743:845:430:394:11566:12758 0/1:-503.004,0,-548.374:576:288:270:7774:8374 . . . . . 0/1:-646.163,0,-880.432:797:436:351:10319:13040 . . 0/1:-781.229,0,-941.46:913:473:425:12260:14081 0/1:-481.472,0,-528.783:533:263:262:7481:8075 0/1:-597.055,0,-594.091:623:300:312:9186:9114 . . . . . . . . . 0/1:-730.631,0,-751.089:796:389:396:11334:11409 . . 0/1:-913.357,0,-1063.79:1059:532:497:14302:16032 0/1:-828.795,0,-749.121:830:382:432:12549:11602 . . . 0/1:-855.338,0,-877.307:819:406:402:12641:12883:406,402 . 0/1:-395.074,0,-455.91:408:213:190:6021:6650:213,190 . . . . . . . . . . 0/1:-825.143,0,-928.66:842:428:402:12490:13533:428,402 . . . . . chr2 105979730 . C A 10394.35 . AB=0.554945;ABP=22.1002;AC=84;AF=0.5;AN=132;AO=404;CIGAR=1X;DP=58146;DPB=728;DPRA=0;EPP=4.06379;EPPR=6.65699;GTI=0;LEN=1;MEANALT=3;MQM=35.1238;MQMR=36.5778;NS=1;NUMALT=1;ODDS=1190.44;PAIRED=0.957921;PAIREDR=0.936508;PAO=0;PQA=0;PQR=0;PRO=0;QA=10927;QR=9291;RO=315;RPL=122;RPP=140.609;RPPR=114.197;RPR=282;RUN=1;SAF=291;SAP=173.31;SAR=113;SF=0,1;SRF=210;SRP=79.0118;SRR=105;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q12.1;genomicSuperDups=.;esp6500siv2_all=0.3117;esp6500siv2_ea=0.3766;esp6500siv2_all=0.3117;esp6500siv2_ea=0.3766;1000g2015aug_all=0.277356;avsnp147=rs2278502;Kaviar_AF=0.333443;Kaviar_AC=51551;Kaviar_AN=154602;ExAC_ALL=0.3340;ExAC_AFR=0.1795;ExAC_AMR=0.2406;ExAC_EAS=0.1859;ExAC_FIN=0.3824;ExAC_NFE=0.3779;ExAC_OTH=0.3141;ExAC_SAS=0.3788;CLNALLELEID=57489;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0376;dpsi_zscore=-0.206;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3330;gnomAD_exome_AFR=0.1733;gnomAD_exome_AMR=0.2621;gnomAD_exome_ASJ=0.3230;gnomAD_exome_EAS=0.1868;gnomAD_exome_FIN=0.3780;gnomAD_exome_NFE=0.3798;gnomAD_exome_OTH=0.3333;gnomAD_exome_SAS=0.3734;gnomAD_genome_ALL=0.3124;gnomAD_genome_AFR=0.1903;gnomAD_genome_AMR=0.3007;gnomAD_genome_ASJ=0.3411;gnomAD_genome_EAS=0.1973;gnomAD_genome_FIN=0.3761;gnomAD_genome_NFE=0.3795;gnomAD_genome_OTH=0.3384;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-665,0,-545.754:728:315:404:10927:9291 0/1:-811.538,0,-947.263:1036:534:497:13601:15722 0/1:-785.305,0,-688.653:871:412:452:12745:11712 0/1:-495.187,0,-489.531:592:288:298:8183:8243 0/1:-742.147,0,-721.91:893:429:452:12377:12379 1/1:-2633.3,-309.508,0:1237:38:1183:32768:751 . . . . 0/1:-721.252,0,-681.511:848:404:434:11968:11805 . 0/1:-779.972,0,-694.022:861:401:452:12675:11832 0/1:-530.965,0,-577.339:685:341:340:9143:9706 1/1:-1534.92,-166.814,0:746:30:708:19495:637 . . . 0/1:-699.218,0,-795.06:858:443:411:11666:12751 . . . 0/1:-479.243,0,-309.977:495:208:281:7796:6016 0/1:-783.848,0,-1069.58:1069:569:491:13455:16772 . . 0/1:-709.444,0,-890.022:971:507:458:12273:14494 1/1:-2087.53,-229.421,0:994:36:953:26203:845 0/1:-459.285,0,-651.315:688:379:303:8284:10932 0/1:-551.674,0,-541.675:617:300:312:8782:9003 . . 1/1:-1868.19,-201.773,0:911:40:857:23446:861 0/1:-798.544,0,-791.68:938:454:478:13059:13178 . 0/1:-779.087,0,-782.68:955:459:488:12924:13271 . 1/1:-1815.32,-204.469,0:825:28:785:22097:481 . . 0/1:-1012.52,0,-874.55:1074:490:581:16162:14531 . 0/1:-640.45,0,-849.308:876:464:407:11113:13511 . 0/1:-1016.32,0,-1007.16:1162:567:592:16441:16601 1/1:-1875.18,-203.105,0:913:43:861:23463:897 0/1:-796.912,0,-663.911:843:389:448:12727:11373 1/1:-1180.81,-132.963,0:541:20:520:14707:383 . 0/1:-926.524,0,-949.383:1109:545:561:15458:15467 1/1:-2305.14,-266.744,0:1077:37:1027:28364:683 . 1/1:-2329.56,-243.565,0:1103:50:1035:29033:1039 0/1:-891.499,0,-1007.5:1112:557:551:14886:16291 . 1/1:-1745.57,-208.522,0:794:16:767:21560:368 . . 0/1:-529.89,0,-642.221:693:361:330:9001:10514 . 0/1:-389.069,0,-486.219:549:279:265:7060:8283 1/1:-2311.94,-268.942,0:1107:36:1061:28965:741 0/1:-664.841,0,-748.647:832:421:406:11119:12489 0/1:-403.489,0,-619.389:619:343:269:7317:9848 0/1:-891.434,0,-1017.74:1087:551:528:14785:16460 0/1:-874.805,0,-909.786:1006:485:514:14374:14513 . 0/1:-742.509,0,-720.623:858:408:446:12071:11864 0/1:-681.093,0,-722.774:807:388:414:11236:11605 . 0/1:-636.468,0,-841.331:871:445:417:11148:13331 1/1:-2701.72,-321.304,0:1200:26:1165:32750:491 0/1:-826.294,0,-901.817:1023:505:508:13857:14920 0/1:-348.668,0,-416.922:555:278:271:6731:7477 . 0/1:-852.14,0,-946.631:1084:537:537:14900:15832 . . 0/1:-536.029,0,-675.341:700:368:324:9076:10885 . 0/1:-838.332,0,-795.598:939:458:476:13546:13425 0/1:-866.87,0,-963.756:1073:533:538:14754:15733 . 0/1:-550.854,0,-704.579:754:393:358:9768:11510 . . 0/1:-511.129,0,-658.564:672:359:306:8630:10478 . 1/1:-1220.54,-144.701,0:568:19:541:15066:295 . . 1/1:-1797.58,-205.413,0:864:33:825:22617:627 . . 1/1:-2178.77,-256.979,0:1045:38:1002:26975:730 . . 0/1:-942.722,0,-1017.02:976:494:478:14368:15152:494,478 . . 1/1:-2251.43,-230.818,0:888:16:868:26294:420:16,868 . 1/1:-2312.31,-229.405,0:946:23:920:27292:613:23,920 0/1:-1032.94,0,-1063.86:1071:538:530:15677:16261:538,530 0/1:-877.093,0,-884.529:888:441:447:13367:13290:441,447 0/1:-964.737,0,-904.247:933:452:476:14354:13814:452,476 . 0/1:-723.109,0,-714.297:710:346:361:10814:10816:346,361 . 0/1:-764.619,0,-992.698:883:479:403:11967:14537:479,403 . 0/1:-813.177,0,-984.372:920:484:432:12744:14573:484,432 1/1:-2532.87,-258.401,0:1033:25:1001:30061:576:25,1001 0/1:-847.266,0,-820.438:857:419:436:12848:12573:419,436 0/1:-737.496,0,-671.675:713:336:374:11003:10229:336,374 . chr2 105979752 . G A 10522.73 . AB=0.450199;ABP=35.4526;AC=3;AF=0.5;AN=6;AO=678;CIGAR=1X;DP=4277;DPB=1506;DPRA=0;EPP=136.296;EPPR=238.854;GTI=0;LEN=1;MEANALT=3;MQM=35.9941;MQMR=36.8036;NS=1;NUMALT=1;ODDS=2483.87;PAIRED=0.963127;PAIREDR=0.958388;PAO=0;PQA=0;PQR=0;PRO=0;QA=18840;QR=22289;RO=769;RPL=313;RPP=11.6706;RPPR=16.4542;RPR=365;RUN=1;SAF=434;SAP=118.63;SAR=244;SF=0;SRF=480;SRP=106.024;SRR=289;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001450:exon5:c.C678T:p.N226N,FHL2:NM_201557:exon5:c.C678T:p.N226N,FHL2:NM_001039492:exon6:c.C678T:p.N226N,FHL2:NM_201555:exon7:c.C678T:p.N226N;cytoBand=2q12.1;genomicSuperDups=.;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0126;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0126;1000g2015aug_all=0.00459265;avsnp147=rs137869171;Kaviar_AF=0.0062289;Kaviar_AC=963;Kaviar_AN=154602;ExAC_ALL=0.0053;ExAC_AFR=0.0019;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0.0083;ExAC_NFE=0.0075;ExAC_OTH=0.0067;ExAC_SAS=6.109e-05;CLNALLELEID=57488;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0706;dpsi_zscore=0.384;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0091;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0093;gnomAD_exome_NFE=0.0098;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0103;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1114.28,0,-1400.1:1506:769:678:18840:22289 . . . . . . . . . . . . . 0/1:-1112.63,0,-1172.49:1402:658:683:18936:19474 . . . . . 0/1:-1035.61,0,-1228.3:1369:660:638:17550:19919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179392015 . T C 7340.23 . AB=0.459938;ABP=16.4074;AC=1;AF=0.5;AN=2;AO=442;CIGAR=1X;DP=961;DPB=961;DPRA=0;EPP=319.967;EPPR=278.435;GTI=0;LEN=1;MEANALT=3;MQM=39.0452;MQMR=38.6965;NS=1;NUMALT=1;ODDS=1690.15;PAIRED=0.993213;PAIREDR=0.983368;PAO=0;PQA=0;PQR=0;PRO=0;QA=12263;QR=14241;RO=481;RPL=222;RPP=3.02995;RPPR=14.7525;RPR=220;RUN=1;SAF=216;SAP=3.50158;SAR=226;SF=0;SRF=232;SRP=4.31499;SRR=249;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon191:c.A80505G:p.E26835E,TTN:NM_133432:exon192:c.A80880G:p.E26960E,TTN:NM_133437:exon192:c.A81081G:p.E27027E,TTN:NM_133378:exon312:c.A99996G:p.E33332E,TTN:NM_001256850:exon313:c.A102777G:p.E34259E,TTN:NM_001267550:exon363:c.A107700G:p.E35900E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0018;1000g2015aug_all=0.00599042;avsnp147=rs55832587;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0012;ExAC_SAS=0.0246;CLNALLELEID=56887;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.986e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0025;gnomAD_exome_SAS=0.0221;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-775.911,0,-925.193:961:481:442:12263:14241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179392260 . C T 12762.70 . AB=0.467464;ABP=15.3034;AC=1;AF=0.5;AN=2;AO=625;CIGAR=1X;DP=1337;DPB=1337;DPRA=0;EPP=129.758;EPPR=66.1019;GTI=0;LEN=1;MEANALT=3;MQM=40.4656;MQMR=40.6225;NS=1;NUMALT=1;ODDS=2938.71;PAIRED=0.9616;PAIREDR=0.971182;PAO=0;PQA=0;PQR=0;PRO=0;QA=19645;QR=22239;RO=694;RPL=302;RPP=4.54249;RPPR=9.06789;RPR=323;RUN=1;SAF=367;SAP=44.2891;SAR=258;SF=1;SRF=415;SRP=60.8829;SRR=279;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon190:c.G80398A:p.E26800K,TTN:NM_133432:exon191:c.G80773A:p.E26925K,TTN:NM_133437:exon191:c.G80974A:p.E26992K,TTN:NM_133378:exon311:c.G99889A:p.E33297K,TTN:NM_001256850:exon312:c.G102670A:p.E34224K,TTN:NM_001267550:exon362:c.G107593A:p.E35865K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs372841288;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.283e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=493663;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.155;SIFT_pred=T;Polyphen2_HDIV_score=0.335;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.920;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.26;FATHMM_pred=T;PROVEAN_score=-2.17;PROVEAN_pred=N;VEST3_score=0.435;CADD_raw=3.508;CADD_phred=23.1;DANN_score=0.895;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.736;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.87;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.616;GDI_full_10282015=.;dpsi_max_tissue=-0.3101;dpsi_zscore=-0.868;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.626e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.587e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.661e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1302.35,0,-1524.05:1337:694:625:19645:22239:694,625 . . . . . . . . . . . . . chr2 179392277 . A G 8172.66 . AB=0.528131;ABP=6.79757;AC=3;AF=0.5;AN=6;AO=291;CIGAR=1X;DP=2765;DPB=551;DPRA=0;EPP=5.16685;EPPR=3.43421;GTI=0;LEN=1;MEANALT=3;MQM=37.677;MQMR=38.9841;NS=1;NUMALT=1;ODDS=1081.34;PAIRED=0.962199;PAIREDR=0.992032;PAO=0;PQA=0;PQR=0;PRO=0;QA=8157;QR=7633;RO=251;RPL=134;RPP=6.95775;RPPR=4.47237;RPR=157;RUN=1;SAF=155;SAP=5.70412;SAR=136;SF=0;SRF=151;SRP=25.5123;SRR=100;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon190:c.T80381C:p.M26794T,TTN:NM_133432:exon191:c.T80756C:p.M26919T,TTN:NM_133437:exon191:c.T80957C:p.M26986T,TTN:NM_133378:exon311:c.T99872C:p.M33291T,TTN:NM_001256850:exon312:c.T102653C:p.M34218T,TTN:NM_001267550:exon362:c.T107576C:p.M35859T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;1000g2015aug_all=0.00219649;avsnp147=rs72629793;Kaviar_AF=0.0019987;Kaviar_AC=309;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0016;ExAC_OTH=0.0044;ExAC_SAS=0.0093;CLNALLELEID=56884;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.884;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.29;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_pred=D;VEST3_score=0.841;CADD_raw=1.541;CADD_phred=13.53;DANN_score=0.835;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.889;MetaSVM_pred=T;MetaLR_score=0.141;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.62;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.162;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.371;GDI_full_10282015=.;dpsi_max_tissue=0.5735;dpsi_zscore=1.205;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM116755#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=6.544e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0089;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-519.698,0,-479.365:551:251:291:8157:7633 . . . . . . . . . . . . . . . . . . . . 0/1:-770.67,0,-823.651:881:425:434:12097:12826 . . . . 0/1:-1191.64,0,-1334.44:1333:665:645:18470:20075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179392987 . G A 6352.57 . AB=0.444976;ABP=19.4989;AC=2;AF=0.5;AN=4;AO=279;CIGAR=1X;DP=1548;DPB=627;DPRA=0;EPP=13.6653;EPPR=3.11623;GTI=0;LEN=1;MEANALT=3;MQM=38.0645;MQMR=39.0366;NS=1;NUMALT=1;ODDS=1030.21;PAIRED=0.971326;PAIREDR=0.978659;PAO=0;PQA=0;PQR=0;PRO=0;QA=7670;QR=9784;RO=328;RPL=73;RPP=140.685;RPPR=108.115;RPR=206;RUN=1;SAF=130;SAP=5.81998;SAR=149;SF=0;SRF=153;SRP=6.21455;SRR=175;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs367908657;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=172942;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2292;dpsi_zscore=0.777;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR 0/1:-470.661,0,-646.95:627:328:279:7670:9784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-861.958,0,-859.51:921:442:459:13181:13187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179393111 . A G 8097.55 . AB=0.441035;ABP=34.5081;AC=4;AF=0.5;AN=8;AO=460;CIGAR=1X;DP=3846;DPB=1043;DPRA=0;EPP=7.84419;EPPR=31.3852;GTI=0;LEN=1;MEANALT=3;MQM=39.4326;MQMR=39.394;NS=1;NUMALT=1;ODDS=2012.54;PAIRED=0.969565;PAIREDR=0.982332;PAO=0;PQA=0;PQR=0;PRO=0;QA=14157;QR=18139;RO=566;RPL=240;RPP=4.89854;RPPR=32.7203;RPR=220;RUN=1;SAF=304;SAP=106.41;SAR=156;SF=0,1;SRF=337;SRP=47.7595;SRR=229;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon189:c.T80072C:p.V26691A,TTN:NM_133432:exon190:c.T80447C:p.V26816A,TTN:NM_133437:exon190:c.T80648C:p.V26883A,TTN:NM_133378:exon310:c.T99563C:p.V33188A,TTN:NM_001256850:exon311:c.T102344C:p.V34115A,TTN:NM_001267550:exon361:c.T107267C:p.V35756A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0513;esp6500siv2_ea=0.0207;esp6500siv2_all=0.0513;esp6500siv2_ea=0.0207;1000g2015aug_all=0.0920527;avsnp147=rs16866378;Kaviar_AF=0.0430007;Kaviar_AC=6648;Kaviar_AN=154602;ExAC_ALL=0.0447;ExAC_AFR=0.1266;ExAC_AMR=0.0313;ExAC_EAS=0.1664;ExAC_FIN=0.0027;ExAC_NFE=0.0216;ExAC_OTH=0.0471;ExAC_SAS=0.0517;CLNALLELEID=56882;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.127;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.44;MutationAssessor_pred=L;FATHMM_score=-0.19;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_pred=N;VEST3_score=0.047;CADD_raw=0.471;CADD_phred=7.207;DANN_score=0.642;fathmm-MKL_coding_score=0.459;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.053;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.24;phyloP7way_vertebrate=0.126;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.609;phastCons20way_mammalian=0.904;SiPhy_29way_logOdds=9.842;GDI_full_10282015=.;dpsi_max_tissue=-0.1213;dpsi_zscore=-0.510;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0432;gnomAD_exome_AFR=0.1268;gnomAD_exome_AMR=0.0338;gnomAD_exome_ASJ=0.0412;gnomAD_exome_EAS=0.1758;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0205;gnomAD_exome_OTH=0.0393;gnomAD_exome_SAS=0.0502;gnomAD_genome_ALL=0.0569;gnomAD_genome_AFR=0.1323;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1582;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0187;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-895.482,0,-1227.37:1043:566:460:14157:18139 . . . . . . . . . . . . 0/1:-500.529,0,-655.074:593:314:264:7944:9890 . . . . . . . . 0/1:-972.53,0,-1349.12:1152:622:510:15400:19951 . . . . . . . . . . . . . . . . . . . . . 0/1:-1002.31,0,-1251.31:1058:558:489:15170:18205:558,489 . . . . . . . . . . . . . . . . . . chr2 179393691 . G A 2607.48 . AB=0.438395;ABP=14.5147;AC=2;AF=0.5;AN=4;AO=153;CIGAR=1X;DP=640;DPB=349;DPRA=0;EPP=3.36512;EPPR=3.41745;GTI=0;LEN=1;MEANALT=3;MQM=39.366;MQMR=39.6562;NS=1;NUMALT=1;ODDS=611.577;PAIRED=0.980392;PAIREDR=0.989583;PAO=0;PQA=0;PQR=0;PRO=0;QA=4493;QR=5929;RO=192;RPL=58;RPP=22.44;RPPR=5.22701;RPR=95;RUN=1;SAF=111;SAP=70.5814;SAR=42;SF=0,1;SRF=132;SRP=61.6401;SRR=60;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.C79592T:p.T26531I,TTN:NM_133432:exon189:c.C79967T:p.T26656I,TTN:NM_133437:exon189:c.C80168T:p.T26723I,TTN:NM_133378:exon309:c.C99083T:p.T33028I,TTN:NM_001256850:exon310:c.C101864T:p.T33955I,TTN:NM_001267550:exon360:c.C106787T:p.T35596I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;1000g2015aug_all=0.00379393;avsnp147=rs55842557;Kaviar_AF=0.0086674;Kaviar_AC=1340;Kaviar_AN=154602;ExAC_ALL=0.0098;ExAC_AFR=0.0013;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0764;ExAC_NFE=0.0094;ExAC_OTH=0.0200;ExAC_SAS=0.0004;CLNALLELEID=56876;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.473;SIFT_pred=T;Polyphen2_HDIV_score=0.257;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=-3.01;PROVEAN_pred=D;VEST3_score=0.158;CADD_raw=3.210;CADD_phred=22.7;DANN_score=0.784;fathmm-MKL_coding_score=0.951;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.944;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_pred=T;integrated_fitCons_score=0.493;integrated_confidence_value=0;GERP++_RS=4.74;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.248;GDI_full_10282015=.;dpsi_max_tissue=-0.0031;dpsi_zscore=0.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0107;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0697;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0167;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0673;gnomAD_genome_NFE=0.0160;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-282.444,0,-403.622:349:192:153:4493:5929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-250.318,0,-348.944:291:160:126:3878:5065:160,126 . . . . . . . . . . . . . . chr2 179393803 . C G 3950.76 . AB=0.463265;ABP=8.75362;AC=1;AF=0.5;AN=2;AO=227;CIGAR=1X;DP=490;DPB=490;DPRA=0;EPP=34.0901;EPPR=89.1798;GTI=0;LEN=1;MEANALT=3;MQM=38.9515;MQMR=39.8175;NS=1;NUMALT=1;ODDS=909.696;PAIRED=0.991189;PAIREDR=0.988095;PAO=0;PQA=0;PQR=0;PRO=0;QA=6441;QR=7319;RO=252;RPL=116;RPP=3.24945;RPPR=8.83536;RPR=111;RUN=1;SAF=105;SAP=5.77486;SAR=122;SF=0;SRF=117;SRP=5.80219;SRR=135;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.G79480C:p.E26494Q,TTN:NM_133432:exon189:c.G79855C:p.E26619Q,TTN:NM_133437:exon189:c.G80056C:p.E26686Q,TTN:NM_133378:exon309:c.G98971C:p.E32991Q,TTN:NM_001256850:exon310:c.G101752C:p.E33918Q,TTN:NM_001267550:exon360:c.G106675C:p.E35559Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000399361;avsnp147=rs199632397;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0022;ExAC_SAS=0.0009;CLNALLELEID=189409;CLNDN=Hypertrophic_cardiomyopathy|Inborn_genetic_diseases|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.596;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.248;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.966;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.26;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_pred=N;VEST3_score=0.117;CADD_raw=3.311;CADD_phred=22.9;DANN_score=0.847;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.805;MetaSVM_pred=T;MetaLR_score=0.171;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.54;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.914;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=14.995;GDI_full_10282015=.;dpsi_max_tissue=-0.0046;dpsi_zscore=-0.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=6.549e-05;gnomAD_exome_AMR=2.985e-05;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-406.054,0,-487.475:490:252:227:6441:7319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179393840 . C T 4589.75 . AB=0.442177;ABP=20.0866;AC=1;AF=0.5;AN=2;AO=260;CIGAR=1X;DP=588;DPB=588;DPRA=0;EPP=41.6291;EPPR=12.8213;GTI=0;LEN=1;MEANALT=3;MQM=39.7462;MQMR=40.1947;NS=1;NUMALT=1;ODDS=1056.83;PAIRED=0.980769;PAIREDR=0.966997;PAO=0;PQA=0;PQR=0;PRO=0;QA=7449;QR=8895;RO=303;RPL=107;RPP=20.6827;RPPR=5.08144;RPR=153;RUN=1;SAF=105;SAP=23.8898;SAR=155;SF=0;SRF=118;SRP=35.1811;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.G79443A:p.R26481R,TTN:NM_133432:exon189:c.G79818A:p.R26606R,TTN:NM_133437:exon189:c.G80019A:p.R26673R,TTN:NM_133378:exon309:c.G98934A:p.R32978R,TTN:NM_001256850:exon310:c.G101715A:p.R33905R,TTN:NM_001267550:exon360:c.G106638A:p.R35546R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;1000g2015aug_all=0.00599042;avsnp147=rs56324602;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;ExAC_ALL=0.0045;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0012;ExAC_SAS=0.0252;CLNALLELEID=56875;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0194;dpsi_zscore=0.132;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0.0236;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-474.834,0,-600.516:588:303:260:7449:8895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179393859 . A G 3166.47 . AB=0.490798;ABP=3.25009;AC=3;AF=0.5;AN=6;AO=160;CIGAR=1X;DP=1085;DPB=326;DPRA=0;EPP=3.87889;EPPR=9.18849;GTI=0;LEN=1;MEANALT=3;MQM=39.2875;MQMR=39.5032;NS=1;NUMALT=1;ODDS=699.397;PAIRED=0.99375;PAIREDR=0.987097;PAO=0;PQA=0;PQR=0;PRO=0;QA=4884;QR=4820;RO=155;RPL=92;RPP=10.8276;RPPR=3.13639;RPR=68;RUN=1;SAF=56;SAP=34.2795;SAR=104;SF=0;SRF=43;SRP=69.7095;SRR=112;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.T79424C:p.I26475T,TTN:NM_133432:exon189:c.T79799C:p.I26600T,TTN:NM_133437:exon189:c.T80000C:p.I26667T,TTN:NM_133378:exon309:c.T98915C:p.I32972T,TTN:NM_001256850:exon310:c.T101696C:p.I33899T,TTN:NM_001267550:exon360:c.T106619C:p.I35540T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0136;esp6500siv2_ea=0.0178;esp6500siv2_all=0.0136;esp6500siv2_ea=0.0178;1000g2015aug_all=0.00459265;avsnp147=rs55880440;Kaviar_AF=0.0124449;Kaviar_AC=1924;Kaviar_AN=154602;ExAC_ALL=0.0142;ExAC_AFR=0.0037;ExAC_AMR=0.0050;ExAC_EAS=0;ExAC_FIN=0.0206;ExAC_NFE=0.0201;ExAC_OTH=0.0234;ExAC_SAS=0.0072;CLNALLELEID=56874;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.093;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.13;FATHMM_pred=T;PROVEAN_score=-2.58;PROVEAN_pred=D;VEST3_score=0.516;CADD_raw=2.010;CADD_phred=16.28;DANN_score=0.765;fathmm-MKL_coding_score=0.663;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.981;MetaSVM_pred=T;MetaLR_score=0.081;MetaLR_pred=T;integrated_fitCons_score=0.493;integrated_confidence_value=0;GERP++_RS=1.63;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.238;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=6.346;GDI_full_10282015=.;dpsi_max_tissue=0.0064;dpsi_zscore=0.044;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0123;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=6.32e-05;gnomAD_exome_FIN=0.0181;gnomAD_exome_NFE=0.0176;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0063;gnomAD_genome_ALL=0.0127;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0204;gnomAD_genome_NFE=0.0172;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-320.809,0,-318.181:326:155:160:4884:4820 . . . . . . . . . . . . . . . . . 0/1:-541.519,0,-643.128:605:312:281:8313:9551 . 0/1:-122.081,0,-190.416:154:85:67:1957:2745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179395067 . C G 3437.57 . AB=0.490566;ABP=3.25613;AC=19;AF=0.5;AN=38;AO=156;CIGAR=1X;DP=7628;DPB=318;DPRA=0;EPP=3.06598;EPPR=6.12228;GTI=0;LEN=1;MEANALT=3;MQM=38.6987;MQMR=38.7452;NS=1;NUMALT=1;ODDS=646.467;PAIRED=0.99359;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4507;QR=4641;RO=157;RPL=63;RPP=15.538;RPPR=3.35608;RPR=93;RUN=1;SAF=80;SAP=3.23302;SAR=76;SF=0,1;SRF=70;SRP=7.00747;SRR=87;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G79080C:p.G26360G,TTN:NM_133432:exon187:c.G79455C:p.G26485G,TTN:NM_133437:exon187:c.G79656C:p.G26552G,TTN:NM_133378:exon307:c.G98571C:p.G32857G,TTN:NM_001256850:exon308:c.G101352C:p.G33784G,TTN:NM_001267550:exon358:c.G106275C:p.G35425G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0840;esp6500siv2_ea=0.0874;esp6500siv2_all=0.0840;esp6500siv2_ea=0.0874;1000g2015aug_all=0.0509185;avsnp147=rs56207956;Kaviar_AF=0.0668685;Kaviar_AC=10338;Kaviar_AN=154602;ExAC_ALL=0.0665;ExAC_AFR=0.0707;ExAC_AMR=0.0441;ExAC_EAS=0.0001;ExAC_FIN=0.0750;ExAC_NFE=0.0878;ExAC_OTH=0.0667;ExAC_SAS=0.0253;CLNALLELEID=56868;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0006;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0646;gnomAD_exome_AFR=0.0730;gnomAD_exome_AMR=0.0461;gnomAD_exome_ASJ=0.0551;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0721;gnomAD_exome_NFE=0.0890;gnomAD_exome_OTH=0.0773;gnomAD_exome_SAS=0.0239;gnomAD_genome_ALL=0.0763;gnomAD_genome_AFR=0.0743;gnomAD_genome_AMR=0.0573;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0770;gnomAD_genome_NFE=0.0873;gnomAD_genome_OTH=0.0706;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-288.97,0,-296.092:318:157:156:4507:4641 . . 0/1:-277.224,0,-380.827:363:188:168:4448:5678 . . . 0/1:-365.758,0,-408.812:447:219:213:5934:6382 . . . . . . . . . . . . 0/1:-417.288,0,-426.771:455:216:230:6548:6561 . 0/1:-294.178,0,-288.793:328:154:174:4684:4746 . . . . . . 0/1:-365.362,0,-395.981:413:201:203:5787:6015 . 0/1:-404.915,0,-383.633:427:201:216:6300:5900 . . . . . . . . . 0/1:-524.728,0,-516.292:557:264:275:8061:7931 . . . . . . . 0/1:-413.184,0,-534.004:505:261:231:6505:7994 . . 0/1:-330.651,0,-405.796:388:192:187:5175:6060 . . . 0/1:-337.081,0,-471.809:442:233:199:5424:6976 . . . . 0/1:-384.878,0,-488.605:477:245:213:6137:7357 . . . 0/1:-220.063,0,-376.123:333:184:137:3796:5526 . . . . . . . . . . . . . . . . . . . . . 0/1:-522.308,0,-590.646:597:297:286:8163:8865 . 0/1:-402.722,0,-469.932:455:234:210:6206:7042 . . . . . . . 0/1:-291.932,0,-326.971:295:151:141:4456:4819:151,141 0/1:-280.674,0,-332.17:306:157:139:4327:4955:157,139 . . . . 0/1:-266.662,0,-319.151:288:153:133:4149:4775:153,133 . 0/1:-251.286,0,-246.198:234:114:115:3660:3619:114,115 . . . . . . . chr2 179395415 . G T 4858.39 . AB=0.446844;ABP=17.785;AC=1;AF=0.5;AN=2;AO=269;CIGAR=1X;DP=602;DPB=602;DPRA=0;EPP=3.40585;EPPR=3.25157;GTI=0;LEN=1;MEANALT=3;MQM=37.8996;MQMR=38.2099;NS=1;NUMALT=1;ODDS=1118.69;PAIRED=0.988848;PAIREDR=0.962963;PAO=0;PQA=0;PQR=0;PRO=0;QA=8034;QR=9985;RO=324;RPL=175;RPP=55.9732;RPPR=9.87323;RPR=94;RUN=1;SAF=136;SAP=3.08295;SAR=133;SF=0;SRF=175;SRP=7.5409;SRR=149;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78732A:p.S26244R,TTN:NM_133432:exon187:c.C79107A:p.S26369R,TTN:NM_133437:exon187:c.C79308A:p.S26436R,TTN:NM_133378:exon307:c.C98223A:p.S32741R,TTN:NM_001256850:exon308:c.C101004A:p.S33668R,TTN:NM_001267550:exon358:c.C105927A:p.S35309R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.807;MutationTaster_pred=D;MutationAssessor_score=1.485;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-2.81;PROVEAN_pred=D;VEST3_score=0.423;CADD_raw=1.480;CADD_phred=13.21;DANN_score=0.846;fathmm-MKL_coding_score=0.761;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.306;MetaSVM_pred=T;MetaLR_score=0.356;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-3.04;phyloP7way_vertebrate=-0.715;phyloP20way_mammalian=-0.097;phastCons7way_vertebrate=0.871;phastCons20way_mammalian=0.947;SiPhy_29way_logOdds=13.005;GDI_full_10282015=.;dpsi_max_tissue=-0.0546;dpsi_zscore=-0.285;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-499.777,0,-657.623:602:324:269:8034:9985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179395554 . GC AA 4254.26 . AB=0.425139;ABP=55.6795;AC=4;AF=0.5;AN=8;AO=460;CIGAR=2X;DP=2874;DPB=1091;DPRA=0;EPP=10.5632;EPPR=3.04616;GTI=0;LEN=2;MEANALT=13;MQM=36.3587;MQMR=38.4349;NS=1;NUMALT=1;ODDS=1532.42;PAIRED=0.978261;PAIREDR=0.974312;PAO=5;PQA=88;PQR=204;PRO=13;QA=11830;QR=16131;RO=545;RPL=228;RPP=3.08583;RPPR=14.2023;RPR=232;RUN=1;SAF=286;SAP=62.2254;SAR=174;SF=0;SRF=356;SRP=114.13;SRR=189;TYPE=mnp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=TTN:NM_003319:exon186:c.78592_78593TT,TTN:NM_133432:exon187:c.78967_78968TT,TTN:NM_133437:exon187:c.79168_79169TT,TTN:NM_133378:exon307:c.98083_98084TT,TTN:NM_001256850:exon308:c.100864_100865TT,TTN:NM_001267550:exon358:c.105787_105788TT;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs794729250;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=198701;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-681.702,0,-1077.32:1082:545:460:11830:16131 . 0/1:-271.016,0,-422.408:479:233:194:4980:6802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-419.644,0,-686.426:703:345:299:7523:10389 0/1:-387.581,0,-562.685:610:293:263:6769:8651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179395560 . G A 6361.49 . AB=0.490286;ABP=3.72751;AC=4;AF=0.5;AN=8;AO=429;CIGAR=1X;DP=3088;DPB=875;DPRA=0;EPP=5.68794;EPPR=9.42007;GTI=0;LEN=1;MEANALT=3;MQM=36.5851;MQMR=37.8289;NS=1;NUMALT=1;ODDS=1670.63;PAIRED=0.969697;PAIREDR=0.975904;PAO=0;PQA=0;PQR=0;PRO=0;QA=12257;QR=12158;RO=415;RPL=177;RPP=31.4824;RPPR=7.4108;RPR=252;RUN=1;SAF=273;SAP=72.3;SAR=156;SF=0,1;SRF=251;SRP=42.6148;SRR=164;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78587T:p.P26196L,TTN:NM_133432:exon187:c.C78962T:p.P26321L,TTN:NM_133437:exon187:c.C79163T:p.P26388L,TTN:NM_133378:exon307:c.C98078T:p.P32693L,TTN:NM_001256850:exon308:c.C100859T:p.P33620L,TTN:NM_001267550:exon358:c.C105782T:p.P35261L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0358;esp6500siv2_ea=0.0208;esp6500siv2_all=0.0358;esp6500siv2_ea=0.0208;1000g2015aug_all=0.0792732;avsnp147=rs16866380;Kaviar_AF=0.038376;Kaviar_AC=5933;Kaviar_AN=154602;ExAC_ALL=0.0401;ExAC_AFR=0.0747;ExAC_AMR=0.0299;ExAC_EAS=0.1659;ExAC_FIN=0.0027;ExAC_NFE=0.0215;ExAC_OTH=0.0433;ExAC_SAS=0.0515;CLNALLELEID=56864;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.382;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-0.12;FATHMM_pred=T;PROVEAN_score=-4.67;PROVEAN_pred=D;VEST3_score=0.286;CADD_raw=3.557;CADD_phred=23.1;DANN_score=0.900;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.036;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=18.287;GDI_full_10282015=.;dpsi_max_tissue=-0.0121;dpsi_zscore=-0.052;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0396;gnomAD_exome_AFR=0.0743;gnomAD_exome_AMR=0.0317;gnomAD_exome_ASJ=0.0413;gnomAD_exome_EAS=0.1754;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0205;gnomAD_exome_OTH=0.0371;gnomAD_exome_SAS=0.0501;gnomAD_genome_ALL=0.0410;gnomAD_genome_AFR=0.0767;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1588;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0186;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-743.523,0,-756.722:875:415:429:12257:12158 . . . . . . . . . . . . 0/1:-264.778,0,-367.7:400:215:172:4625:6081 . . . . . . . . 0/1:-740.389,0,-808.336:898:446:424:12076:13019 . . . . . . . . . . . . . . . . . . . . . 0/1:-976.486,0,-806.337:915:414:488:14570:12317:414,488 . . . . . . . . . . . . . . . . . . chr2 179395573 . C T 4886.40 . AB=0.481343;ABP=6.2513;AC=8;AF=0.5;AN=16;AO=516;CIGAR=1X;DP=5413;DPB=1072;DPRA=0;EPP=80.8466;EPPR=4.70016;GTI=0;LEN=1;MEANALT=3;MQM=37.3411;MQMR=37.5195;NS=1;NUMALT=1;ODDS=1997.63;PAIRED=0.976744;PAIREDR=0.961089;PAO=0;PQA=0;PQR=0;PRO=0;QA=14328;QR=15258;RO=514;RPL=285;RPP=15.2816;RPPR=15.3294;RPR=231;RUN=1;SAF=325;SAP=78.5742;SAR=191;SF=0,1;SRF=295;SRP=27.4119;SRR=219;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78574A:p.E26192K,TTN:NM_133432:exon187:c.G78949A:p.E26317K,TTN:NM_133437:exon187:c.G79150A:p.E26384K,TTN:NM_133378:exon307:c.G98065A:p.E32689K,TTN:NM_001256850:exon308:c.G100846A:p.E33616K,TTN:NM_001267550:exon358:c.G105769A:p.E35257K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0175;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0175;1000g2015aug_all=0.00658946;avsnp147=rs56324595;Kaviar_AF=0.0137062;Kaviar_AC=2119;Kaviar_AN=154602;ExAC_ALL=0.0139;ExAC_AFR=0.0029;ExAC_AMR=0.0056;ExAC_EAS=0.0001;ExAC_FIN=0.0271;ExAC_NFE=0.0201;ExAC_OTH=0.0122;ExAC_SAS=0.0033;CLNALLELEID=56863;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.046;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.18;FATHMM_pred=T;PROVEAN_score=-2.6;PROVEAN_pred=D;VEST3_score=0.282;CADD_raw=4.028;CADD_phred=23.6;DANN_score=0.932;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.534;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.963;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=18.287;GDI_full_10282015=.;dpsi_max_tissue=-0.0044;dpsi_zscore=-0.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0137;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0063;gnomAD_exome_ASJ=0.0123;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0250;gnomAD_exome_NFE=0.0203;gnomAD_exome_OTH=0.0123;gnomAD_exome_SAS=0.0034;gnomAD_genome_ALL=0.0139;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0267;gnomAD_genome_NFE=0.0186;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . 0/1:-892.244,0,-954.202:1072:514:516:14328:15258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-760.088,0,-1037.78:1007:522:448:12784:15826 . 0/1:-300.654,0,-425.897:464:245:201:5424:6988 . . . . . . . . . . . . . 0/1:-447.199,0,-471.437:517:250:255:7099:7599 . . . . . . . . . . . . . . . . 0/1:-491.658,0,-653.78:657:339:299:8542:10137 0/1:-369.435,0,-523.7:553:285:244:6657:8351 . . . . . . 0/1:-600.065,0,-780.849:774:407:344:9780:12092 . . . . . 0/1:-281.194,0,-483.228:369:217:146:4486:7030:217,146 . . . . . . . . . . . . . . . . chr2 179395760 . G A 6984.51 . AB=0.509072;ABP=3.68005;AC=4;AF=0.5;AN=8;AO=477;CIGAR=1X;DP=3002;DPB=937;DPRA=0;EPP=57.0968;EPPR=4.60929;GTI=0;LEN=1;MEANALT=3;MQM=36.4277;MQMR=37.7591;NS=1;NUMALT=1;ODDS=1891.54;PAIRED=0.960168;PAIREDR=0.959091;PAO=0;PQA=0;PQR=0;PRO=0;QA=14423;QR=13262;RO=440;RPL=265;RPP=15.7979;RPPR=3.03004;RPR=212;RUN=1;SAF=222;SAP=7.96781;SAR=255;SF=0,1;SRF=208;SRP=5.85295;SRR=232;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78387T:p.S26129S,TTN:NM_133432:exon187:c.C78762T:p.S26254S,TTN:NM_133437:exon187:c.C78963T:p.S26321S,TTN:NM_133378:exon307:c.C97878T:p.S32626S,TTN:NM_001256850:exon308:c.C100659T:p.S33553S,TTN:NM_001267550:exon358:c.C105582T:p.S35194S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0502;esp6500siv2_ea=0.0205;esp6500siv2_all=0.0502;esp6500siv2_ea=0.0205;1000g2015aug_all=0.091254;avsnp147=rs3829749;Kaviar_AF=0.0424445;Kaviar_AC=6562;Kaviar_AN=154602;ExAC_ALL=0.0443;ExAC_AFR=0.1238;ExAC_AMR=0.0311;ExAC_EAS=0.1658;ExAC_FIN=0.0027;ExAC_NFE=0.0215;ExAC_OTH=0.0467;ExAC_SAS=0.0515;CLNALLELEID=56858;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0129;dpsi_zscore=-0.057;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0430;gnomAD_exome_AFR=0.1238;gnomAD_exome_AMR=0.0337;gnomAD_exome_ASJ=0.0413;gnomAD_exome_EAS=0.1754;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0206;gnomAD_exome_OTH=0.0392;gnomAD_exome_SAS=0.0501;gnomAD_genome_ALL=0.0560;gnomAD_genome_AFR=0.1287;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1578;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0189;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-900.286,0,-830.094:937:440:477:14423:13262 . . . . . . . . . . . . 0/1:-289.731,0,-375.533:361:187:164:4860:5785 . . . . . . . . 0/1:-872.839,0,-761.845:884:416:451:13677:12663 . . . . . . . . . . . . . . . . . . . . . 0/1:-819.742,0,-831.694:820:397:403:12409:12455:397,403 . . . . . . . . . . . . . . . . . . chr2 179395874 . C T 8624.94 . AB=0.486789;ABP=4.50208;AC=1;AF=0.5;AN=2;AO=479;CIGAR=1X;DP=984;DPB=984;DPRA=0;EPP=126.431;EPPR=120.27;GTI=0;LEN=1;MEANALT=3;MQM=37.0104;MQMR=36.8621;NS=1;NUMALT=1;ODDS=1985.97;PAIRED=0.977035;PAIREDR=0.950617;PAO=0;PQA=0;PQR=0;PRO=0;QA=14399;QR=15286;RO=486;RPL=305;RPP=80.807;RPPR=17.0221;RPR=174;RUN=1;SAF=275;SAP=25.8629;SAR=204;SF=0;SRF=315;SRP=95.6598;SRR=171;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78273A:p.P26091P,TTN:NM_133432:exon187:c.G78648A:p.P26216P,TTN:NM_133437:exon187:c.G78849A:p.P26283P,TTN:NM_133378:exon307:c.G97764A:p.P32588P,TTN:NM_001256850:exon308:c.G100545A:p.P33515P,TTN:NM_001267550:exon358:c.G105468A:p.P35156P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0087;esp6500siv2_ea=0.0119;esp6500siv2_all=0.0087;esp6500siv2_ea=0.0119;1000g2015aug_all=0.00319489;avsnp147=rs55806007;Kaviar_AF=0.0084346;Kaviar_AC=1304;Kaviar_AN=154602;ExAC_ALL=0.0089;ExAC_AFR=0.0017;ExAC_AMR=0.0044;ExAC_EAS=0.0001;ExAC_FIN=0.0169;ExAC_NFE=0.0116;ExAC_OTH=0.0133;ExAC_SAS=0.0063;CLNALLELEID=56855;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0007;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0089;gnomAD_exome_AFR=0.0019;gnomAD_exome_AMR=0.0042;gnomAD_exome_ASJ=0.0161;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0157;gnomAD_exome_NFE=0.0113;gnomAD_exome_OTH=0.0128;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0084;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0195;gnomAD_genome_NFE=0.01;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-893.134,0,-943.735:984:486:479:14399:15286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179395958 . T C 8256.98 . AB=0.505226;ABP=3.28268;AC=50;AF=0.5;AN=88;AO=580;CIGAR=1X;DP=37725;DPB=1148;DPRA=0;EPP=8.41652;EPPR=4.32291;GTI=0;LEN=1;MEANALT=3;MQM=36.4741;MQMR=37.4049;NS=1;NUMALT=1;ODDS=2239.93;PAIRED=0.939655;PAIREDR=0.960821;PAO=0;PQA=0;PQR=0;PRO=0;QA=16708;QR=16370;RO=536;RPL=222;RPP=72.2578;RPPR=178.284;RPR=358;RUN=1;SAF=397;SAP=174.467;SAR=183;SF=0,1;SRF=375;SRP=188.542;SRR=161;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A78189G:p.A26063A,TTN:NM_133432:exon187:c.A78564G:p.A26188A,TTN:NM_133437:exon187:c.A78765G:p.A26255A,TTN:NM_133378:exon307:c.A97680G:p.A32560A,TTN:NM_001256850:exon308:c.A100461G:p.A33487A,TTN:NM_001267550:exon358:c.A105384G:p.A35128A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3194;esp6500siv2_ea=0.2231;esp6500siv2_all=0.3194;esp6500siv2_ea=0.2231;1000g2015aug_all=0.508187;avsnp147=rs3813250;Kaviar_AF=0.333728;Kaviar_AC=51595;Kaviar_AN=154602;ExAC_ALL=0.3518;ExAC_AFR=0.5440;ExAC_AMR=0.4305;ExAC_EAS=0.6951;ExAC_FIN=0.2768;ExAC_NFE=0.2314;ExAC_OTH=0.3322;ExAC_SAS=0.5213;CLNALLELEID=56853;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0235;dpsi_zscore=-0.126;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3519;gnomAD_exome_AFR=0.5450;gnomAD_exome_AMR=0.4287;gnomAD_exome_ASJ=0.2814;gnomAD_exome_EAS=0.7014;gnomAD_exome_FIN=0.2786;gnomAD_exome_NFE=0.2261;gnomAD_exome_OTH=0.3099;gnomAD_exome_SAS=0.5148;gnomAD_genome_ALL=0.3530;gnomAD_genome_AFR=0.5385;gnomAD_genome_AMR=0.4117;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.6928;gnomAD_genome_FIN=0.2688;gnomAD_genome_NFE=0.2310;gnomAD_genome_OTH=0.3037;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1034.43,0,-1018.31:1148:536:580:16708:16370 . . . . . . 0/1:-736.59,0,-747.386:813:384:400:11724:12053 . . 0/1:-745.81,0,-923.445:916:471:418:12130:14672 0/1:-681.67,0,-889.356:853:433:387:11306:13772 . . . 0/1:-624.65,0,-758.795:806:404:376:10530:12617 . . 1/1:-1668.62,-189.548,0:747:11:707:20816:321 0/1:-654.03,0,-584.944:695:306:366:10471:9633 0/1:-935.697,0,-1036.38:1069:528:512:14972:16293 . . . . . 0/1:-988.601,0,-1069.41:1089:531:533:15632:16829 0/1:-554.543,0,-648.826:668:330:314:9199:10456 . . 0/1:-1054.04,0,-1288.02:1265:635:589:17213:19832 0/1:-904.573,0,-1103.13:1094:555:512:14783:17225 . . . . 0/1:-800.701,0,-1113.87:1057:557:462:13334:17163 . 0/1:-302.451,0,-376.485:367:189:166:4825:5936 . 1/1:-1922.95,-211.481,0:882:18:831:23831:520 0/1:-802.471,0,-1030.34:985:508:456:12984:16044 . . . 0/1:-871.871,0,-972.181:1035:499:508:14384:15775 1/1:-1310.61,-136.404,0:585:15:543:16426:357 0/1:-772.445,0,-749.108:828:383:425:12442:12069 0/1:-991.843,0,-1241.77:1201:611:559:16383:19157 0/1:-858.481,0,-1108.8:1075:564:487:14169:17300 . . 0/1:-937.315,0,-1002.31:1058:504:521:14864:16139 0/1:-543.088,0,-674.22:736:363:344:9581:11234 . 0/1:-811.01,0,-1129.08:1074:559:485:13691:17451 . . . . 0/1:-1017.76,0,-1381.97:1314:694:578:16920:21733 . 0/1:-479.736,0,-719.905:677:362:287:8219:11329 . . 0/1:-425.875,0,-559.841:548:287:251:7159:8936 0/1:-897.666,0,-928.192:1019:478:521:14537:14998 . . . . . . . 0/1:-1016.08,0,-1115.35:1221:589:602:17017:17897 . 0/1:-960.61,0,-1070.02:1128:549:551:15729:17120 . . 0/1:-960.939,0,-969.503:1056:501:523:15359:15470 0/1:-939.523,0,-964.179:1059:496:534:15241:15517 . . . . . 0/1:-697.22,0,-1094.26:1009:534:438:12280:16861 . 1/1:-2167.89,-229.721,0:1007:25:941:26925:740 . 0/1:-660.156,0,-977.139:905:482:392:11129:15322 . . . . 0/1:-668.575,0,-520.689:589:265:308:9775:8148:265,308 1/1:-1295.79,-127.485,0:538:12:512:15544:362:12,512 0/1:-655.125,0,-628.817:635:293:327:9889:9444:293,327 . . . . 0/1:-593.278,0,-576.826:568:272:291:8883:8749:272,291 . 1/1:-1059.11,-98.066,0:448:14:421:12714:404:14,421 . 0/1:-397.275,0,-463.508:456:231:212:6248:7078:231,212 . 0/1:-446.794,0,-563.914:501:267:228:6920:8339:267,228 . . . 0/1:-403.708,0,-710.117:547:315:220:6592:10147:315,220 . 0/1:-432.748,0,-472.118:454:226:220:6683:7042:226,220 chr2 179396114 . C T 7355.43 . AB=0.479503;ABP=5.94786;AC=1;AF=0.5;AN=2;AO=386;CIGAR=1X;DP=805;DPB=805;DPRA=0;EPP=19.4145;EPPR=15.4558;GTI=0;LEN=1;MEANALT=3;MQM=38.2824;MQMR=38.7786;NS=1;NUMALT=1;ODDS=1693.65;PAIRED=0.953368;PAIREDR=0.985075;PAO=0;PQA=0;PQR=0;PRO=0;QA=11753;QR=12433;RO=402;RPL=151;RPP=42.7044;RPPR=57.027;RPR=235;RUN=1;SAF=167;SAP=18.2219;SAR=219;SF=0;SRF=172;SRP=21.1815;SRR=230;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78033A:p.S26011S,TTN:NM_133432:exon187:c.G78408A:p.S26136S,TTN:NM_133437:exon187:c.G78609A:p.S26203S,TTN:NM_133378:exon307:c.G97524A:p.S32508S,TTN:NM_001256850:exon308:c.G100305A:p.S33435S,TTN:NM_001267550:exon358:c.G105228A:p.S35076S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00139776;avsnp147=rs55938627;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0008;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0044;ExAC_SAS=0.0004;CLNALLELEID=56851;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0150;dpsi_zscore=-0.072;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0123;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-750.489,0,-811.995:805:402:386:11753:12433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179396162 . C G 11438.15 . AB=0.467672;ABP=15.646;AC=8;AF=0.5;AN=16;AO=651;CIGAR=1X;DP=10434;DPB=1392;DPRA=0;EPP=114.716;EPPR=33.0281;GTI=0;LEN=1;MEANALT=3;MQM=37.0015;MQMR=37.3921;NS=1;NUMALT=1;ODDS=2477.27;PAIRED=0.97235;PAIREDR=0.956276;PAO=0;PQA=0;PQR=0;PRO=0;QA=18158;QR=20676;RO=709;RPL=358;RPP=17.1032;RPPR=30.6514;RPR=293;RUN=1;SAF=240;SAP=100.546;SAR=411;SF=0,1;SRF=267;SRP=96.8063;SRR=442;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77985C:p.E25995D,TTN:NM_133432:exon187:c.G78360C:p.E26120D,TTN:NM_133437:exon187:c.G78561C:p.E26187D,TTN:NM_133378:exon307:c.G97476C:p.E32492D,TTN:NM_001256850:exon308:c.G100257C:p.E33419D,TTN:NM_001267550:exon358:c.G105180C:p.E35060D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0333;esp6500siv2_ea=0.0436;esp6500siv2_all=0.0333;esp6500siv2_ea=0.0436;1000g2015aug_all=0.0229633;avsnp147=rs56308529;Kaviar_AF=0.0384989;Kaviar_AC=5952;Kaviar_AN=154602;ExAC_ALL=0.0378;ExAC_AFR=0.0083;ExAC_AMR=0.0954;ExAC_EAS=0;ExAC_FIN=0.0240;ExAC_NFE=0.0418;ExAC_OTH=0.03;ExAC_SAS=0.0247;CLNALLELEID=56848;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.258;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.725;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.26;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_pred=N;VEST3_score=0.192;CADD_raw=2.686;CADD_phred=20.7;DANN_score=0.732;fathmm-MKL_coding_score=0.746;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.67;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.908;SiPhy_29way_logOdds=8.136;GDI_full_10282015=.;dpsi_max_tissue=0.0005;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0408;gnomAD_exome_AFR=0.0076;gnomAD_exome_AMR=0.0917;gnomAD_exome_ASJ=0.0397;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0.0248;gnomAD_exome_NFE=0.0438;gnomAD_exome_OTH=0.0404;gnomAD_exome_SAS=0.0253;gnomAD_genome_ALL=0.0328;gnomAD_genome_AFR=0.0096;gnomAD_genome_AMR=0.0873;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0235;gnomAD_genome_NFE=0.0486;gnomAD_genome_OTH=0.0407;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1107.15,0,-1297.9:1392:709:651:18158:20676 . . 0/1:-1500.09,0,-1578.78:1659:819:815:23594:24318 . . . . . . 0/1:-1126,0,-1575.09:1507:802:665:18840:23762 . . . . . . . . . . . . . . . . . . . . 0/1:-1329.71,0,-1661.45:1695:871:784:21951:25873 . . . . . . . . . 0/1:-1120.45,0,-1520.44:1501:801:671:18754:23724 . . . . . . . . . . . . . . . 0/1:-942.593,0,-1041.18:971:491:462:14207:15407:491,462 . 0/1:-842.894,0,-856.055:835:413:411:12524:12861:413,411 . . . . . . . . . 0/1:-776.668,0,-1014.58:874:471:393:12044:14674:471,393 chr2 179396354 . G A 12603.06 . AB=0.478532;ABP=8.13809;AC=34;AF=0.5;AN=62;AO=613;CIGAR=1X;DP=41392;DPB=1281;DPRA=0;EPP=60.1452;EPPR=24.3877;GTI=0;LEN=1;MEANALT=3;MQM=38.2496;MQMR=38.9628;NS=1;NUMALT=1;ODDS=2299.14;PAIRED=0.988581;PAIREDR=0.956311;PAO=0;PQA=0;PQR=0;PRO=0;QA=16567;QR=18524;RO=618;RPL=198;RPP=169.817;RPPR=169.996;RPR=415;RUN=1;SAF=311;SAP=3.29723;SAR=302;SF=0,1;SRF=302;SRP=3.69899;SRR=316;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C77793T:p.V25931V,TTN:NM_133432:exon187:c.C78168T:p.V26056V,TTN:NM_133437:exon187:c.C78369T:p.V26123V,TTN:NM_133378:exon307:c.C97284T:p.V32428V,TTN:NM_001256850:exon308:c.C100065T:p.V33355V,TTN:NM_001267550:exon358:c.C104988T:p.V34996V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1420;esp6500siv2_ea=0.1451;esp6500siv2_all=0.1420;esp6500siv2_ea=0.1451;1000g2015aug_all=0.231829;avsnp147=rs3829748;Kaviar_AF=0.177579;Kaviar_AC=27454;Kaviar_AN=154602;ExAC_ALL=0.1824;ExAC_AFR=0.1412;ExAC_AMR=0.1531;ExAC_EAS=0.4341;ExAC_FIN=0.1478;ExAC_NFE=0.1468;ExAC_OTH=0.1756;ExAC_SAS=0.2551;CLNALLELEID=56845;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0049;dpsi_zscore=-0.004;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1813;gnomAD_exome_AFR=0.1430;gnomAD_exome_AMR=0.1493;gnomAD_exome_ASJ=0.1872;gnomAD_exome_EAS=0.4299;gnomAD_exome_FIN=0.1517;gnomAD_exome_NFE=0.1444;gnomAD_exome_OTH=0.1644;gnomAD_exome_SAS=0.2523;gnomAD_genome_ALL=0.1661;gnomAD_genome_AFR=0.1427;gnomAD_genome_AMR=0.1671;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.4426;gnomAD_genome_FIN=0.1461;gnomAD_genome_NFE=0.1547;gnomAD_genome_OTH=0.1769;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-1029.42,0,-1203.15:1281:618:613:16567:18524 . . . 0/1:-1173.8,0,-1076.2:1295:589:652:18232:17220 . . . . . . 1/1:-2417,-302.891,0:1107:10:1049:28866:270 0/1:-853.404,0,-935.215:1024:502:488:13467:14618 . . . . . . 0/1:-1258.38,0,-1302.01:1431:694:690:19599:20636 0/1:-990.127,0,-1015.88:1161:541:573:15833:15899 . . 0/1:-1294.13,0,-1508.75:1563:779:740:20552:23106 . . . . . 0/1:-1019.54,0,-1272.19:1243:635:575:16336:19397 . . . . 0/1:-1326.73,0,-1383.51:1498:711:746:20664:21522 . . . 0/1:-1049.7,0,-1457.57:1430:741:640:17308:21859 0/1:-750.678,0,-830.693:861:422:406:11660:12633 . 0/1:-1316.9,0,-1552.88:1639:822:770:21010:24182 0/1:-1209.2,0,-1475.72:1533:773:715:19711:22745 . . . 0/1:-800.729,0,-1022.89:1068:542:483:13212:15941 . 0/1:-1097.67,0,-1472.43:1462:749:672:18159:22239 . . . . 0/1:-1389.57,0,-1746.73:1770:916:809:22572:26956 . 0/1:-788.596,0,-834.884:978:464:477:12674:13383 . . . 0/1:-1085.8,0,-1232.44:1304:643:627:17392:19112 . . . . . . . . . 0/1:-1370.99,0,-1563.51:1660:813:790:21604:24184 . . 0/1:-1201.12,0,-1473.05:1521:752:713:19506:22751 0/1:-1302.22,0,-1583.67:1627:824:766:20913:24593 . . . . . 0/1:-1406.37,0,-1371.39:1583:734:807:22145:21829 . 1/1:-2446.42,-242.901,0:1191:39:1085:30160:1143 . 0/1:-1091.18,0,-1270.18:1342:664:637:17440:19691 . . . . . . 0/1:-1178.87,0,-1505.77:1310:689:593:18122:21868:689,593 . . . . 0/1:-1331.58,0,-1405.16:1317:644:644:19797:20644:644,644 . 1/1:-3248.68,-307.867,0:1328:33:1268:38625:997:33,1268 . 0/1:-1147.32,0,-1169.75:1118:550:552:17105:17373:550,552 . 0/1:-1019.39,0,-1276.69:1123:584:515:15652:18543:584,515 . . . 0/1:-1265.26,0,-1161.81:1191:554:613:18740:17563:554,613 . 0/1:-1469.75,0,-1425.42:1433:687:712:21862:21354:687,712 chr2 179396573 . T G 5676.29 . AB=0.41225;ABP=59.7934;AC=2;AF=0.5;AN=4;AO=350;CIGAR=1X;DP=1764;DPB=849;DPRA=0;EPP=89.3977;EPPR=166.376;GTI=0;LEN=1;MEANALT=3;MQM=36.6829;MQMR=38.9163;NS=1;NUMALT=1;ODDS=1219.59;PAIRED=0.98;PAIREDR=0.989796;PAO=0;PQA=0;PQR=0;PRO=0;QA=9698;QR=14606;RO=490;RPL=161;RPP=7.8744;RPPR=43.8517;RPR=189;RUN=1;SAF=209;SAP=31.6986;SAR=141;SF=0,1;SRF=264;SRP=9.4095;SRR=226;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A77574C:p.T25858T,TTN:NM_133432:exon187:c.A77949C:p.T25983T,TTN:NM_133437:exon187:c.A78150C:p.T26050T,TTN:NM_133378:exon307:c.A97065C:p.T32355T,TTN:NM_001256850:exon308:c.A99846C:p.T33282T,TTN:NM_001267550:exon358:c.A104769C:p.T34923T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0068;1000g2015aug_all=0.00379393;avsnp147=rs56375087;Kaviar_AF=0.0086998;Kaviar_AC=1345;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.0013;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0.0776;ExAC_NFE=0.0095;ExAC_OTH=0.0205;ExAC_SAS=0.0004;CLNALLELEID=56841;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0019;dpsi_zscore=0.012;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0107;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0700;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0166;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0673;gnomAD_genome_NFE=0.0159;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-554.567,0,-976.912:849:490:350:9698:14606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-767.267,0,-1034.08:915:494:416:12072:15232:494,416 . . . . . . . . . . . . . . chr2 179396766 . C T 8503.95 . AB=0.482495;ABP=5.44311;AC=6;AF=0.5;AN=12;AO=441;CIGAR=1X;DP=5189;DPB=914;DPRA=0;EPP=59.3849;EPPR=48.3127;GTI=0;LEN=1;MEANALT=3;MQM=36.9637;MQMR=36.8736;NS=1;NUMALT=1;ODDS=1817.83;PAIRED=0.963719;PAIREDR=0.964523;PAO=0;PQA=0;PQR=0;PRO=0;QA=13028;QR=13851;RO=451;RPL=259;RPP=32.2045;RPPR=15.5336;RPR=182;RUN=1;SAF=201;SAP=10.4997;SAR=240;SF=0,1;SRF=211;SRP=7.05954;SRR=240;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77381A:p.R25794Q,TTN:NM_133432:exon187:c.G77756A:p.R25919Q,TTN:NM_133437:exon187:c.G77957A:p.R25986Q,TTN:NM_133378:exon307:c.G96872A:p.R32291Q,TTN:NM_001256850:exon308:c.G99653A:p.R33218Q,TTN:NM_001267550:exon358:c.G104576A:p.R34859Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0145;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0145;1000g2015aug_all=0.00359425;avsnp147=rs68080670;Kaviar_AF=0.012212;Kaviar_AC=1888;Kaviar_AN=154602;ExAC_ALL=0.0130;ExAC_AFR=0.0015;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0.0441;ExAC_NFE=0.0176;ExAC_OTH=0.0100;ExAC_SAS=0.0025;CLNALLELEID=56839;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.47;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.02;FATHMM_pred=T;PROVEAN_score=-2.28;PROVEAN_pred=N;VEST3_score=0.255;CADD_raw=3.918;CADD_phred=23.5;DANN_score=0.862;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.699;MetaSVM_pred=T;MetaLR_score=0.152;MetaLR_pred=T;integrated_fitCons_score=0.490;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.830;phastCons20way_mammalian=0.463;SiPhy_29way_logOdds=13.76;GDI_full_10282015=.;dpsi_max_tissue=0.0002;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0127;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0418;gnomAD_exome_NFE=0.0171;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0171;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0435;gnomAD_genome_NFE=0.0221;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-806.689,0,-858.209:914:451:441:13028:13851 . 0/1:-698.141,0,-840.425:852:425:403:11840:13065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1163.09,0,-1081.09:1215:569:613:18506:17511 . . . . . . . 0/1:-735.246,0,-587.27:673:290:369:11021:9220:290,369 . . . . . 0/1:-849.47,0,-822.056:819:397:411:12821:12338:397,411 . 0/1:-673.747,0,-740.633:716:360:345:10567:11106:360,345 . . . . . . . chr2 179397077 . G A 9083.09 . AB=0.488119;ABP=4.24868;AC=1;AF=0.5;AN=2;AO=493;CIGAR=1X;DP=1010;DPB=1010;DPRA=0;EPP=90.5783;EPPR=121.237;GTI=0;LEN=1;MEANALT=3;MQM=36.8864;MQMR=38.1478;NS=1;NUMALT=1;ODDS=2091.46;PAIRED=0.933063;PAIREDR=0.983806;PAO=0;PQA=0;PQR=0;PRO=0;QA=15037;QR=15403;RO=494;RPL=214;RPP=21.6198;RPPR=3.08063;RPR=279;RUN=1;SAF=231;SAP=7.24313;SAR=262;SF=0;SRF=210;SRP=27.0811;SRR=284;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C77070T:p.Y25690Y,TTN:NM_133432:exon187:c.C77445T:p.Y25815Y,TTN:NM_133437:exon187:c.C77646T:p.Y25882Y,TTN:NM_133378:exon307:c.C96561T:p.Y32187Y,TTN:NM_001256850:exon308:c.C99342T:p.Y33114Y,TTN:NM_001267550:exon358:c.C104265T:p.Y34755Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756003817;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.284e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0014;dpsi_zscore=0.013;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.065e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.966e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-927.385,0,-989.126:1010:494:493:15037:15403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179397150 . T C 11938.80 . AB=0.457103;ABP=25.739;AC=1;AF=0.5;AN=2;AO=650;CIGAR=1X;DP=1422;DPB=1422;DPRA=0;EPP=30.0702;EPPR=31.8095;GTI=0;LEN=1;MEANALT=3;MQM=38.0908;MQMR=38.1949;NS=1;NUMALT=1;ODDS=2749;PAIRED=0.947692;PAIREDR=0.964817;PAO=0;PQA=0;PQR=0;PRO=0;QA=19571;QR=23307;RO=739;RPL=304;RPP=8.90334;RPPR=10.6531;RPR=346;RUN=1;SAF=406;SAP=90.6843;SAR=244;SF=0;SRF=471;SRP=124.099;SRR=268;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A76997G:p.Y25666C,TTN:NM_133432:exon187:c.A77372G:p.Y25791C,TTN:NM_133437:exon187:c.A77573G:p.Y25858C,TTN:NM_133378:exon307:c.A96488G:p.Y32163C,TTN:NM_001256850:exon308:c.A99269G:p.Y33090C,TTN:NM_001267550:exon358:c.A104192G:p.Y34731C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517789;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.312e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=56830;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.03;FATHMM_pred=T;PROVEAN_score=-5.49;PROVEAN_pred=D;VEST3_score=0.732;CADD_raw=2.595;CADD_phred=20.2;DANN_score=0.969;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.309;MetaSVM_pred=T;MetaLR_score=0.320;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.924;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.049;GDI_full_10282015=.;dpsi_max_tissue=0.0003;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.468e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1215.44,0,-1520.8:1422:739:650:19571:23307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179397483 . C T 7107.82 . AB=0.513314;ABP=4.05106;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=676;DPB=676;DPRA=0;EPP=138.236;EPPR=167.583;GTI=0;LEN=1;MEANALT=3;MQM=39.0058;MQMR=38.183;NS=1;NUMALT=1;ODDS=1431.34;PAIRED=0.974063;PAIREDR=0.990536;PAO=0;PQA=0;PQR=0;PRO=0;QA=11058;QR=10255;RO=317;RPL=156;RPP=10.6762;RPPR=9.59322;RPR=191;RUN=1;SAF=165;SAP=4.81882;SAR=182;SF=0;SRF=124;SRP=35.6235;SRR=193;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G76664A:p.R25555H,TTN:NM_133432:exon187:c.G77039A:p.R25680H,TTN:NM_133437:exon187:c.G77240A:p.R25747H,TTN:NM_133378:exon307:c.G96155A:p.R32052H,TTN:NM_001256850:exon308:c.G98936A:p.R32979H,TTN:NM_001267550:exon358:c.G103859A:p.R34620H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs367927066;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=228557;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.042;SIFT_pred=D;Polyphen2_HDIV_score=0.453;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.05;FATHMM_pred=T;PROVEAN_score=-3.1;PROVEAN_pred=D;VEST3_score=0.393;CADD_raw=4.411;CADD_phred=24.1;DANN_score=0.949;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.841;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_pred=T;integrated_fitCons_score=0.498;integrated_confidence_value=0;GERP++_RS=5.95;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.868;phastCons20way_mammalian=0.666;SiPhy_29way_logOdds=19.974;GDI_full_10282015=.;dpsi_max_tissue=-0.0045;dpsi_zscore=-0.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.357e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=4.487e-05;gnomAD_exome_NFE=3.591e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-733.554,0,-650.533:676:317:347:11058:10255 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179397561 . C T 10481.83 . AB=0.508754;ABP=3.6566;AC=34;AF=0.5;AN=62;AO=494;CIGAR=1X;DP=32175;DPB=971;DPRA=0;EPP=3.29162;EPPR=3.59549;GTI=0;LEN=1;MEANALT=3;MQM=38.6032;MQMR=39.6347;NS=1;NUMALT=1;ODDS=1991.91;PAIRED=0.991903;PAIREDR=0.975501;PAO=0;PQA=0;PQR=0;PRO=0;QA=15000;QR=13588;RO=449;RPL=225;RPP=11.5204;RPPR=37.9521;RPR=269;RUN=1;SAF=290;SAP=35.5208;SAR=204;SF=0,1;SRF=258;SRP=24.7202;SRR=191;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G76586A:p.R25529H,TTN:NM_133432:exon187:c.G76961A:p.R25654H,TTN:NM_133437:exon187:c.G77162A:p.R25721H,TTN:NM_133378:exon307:c.G96077A:p.R32026H,TTN:NM_001256850:exon308:c.G98858A:p.R32953H,TTN:NM_001267550:exon358:c.G103781A:p.R34594H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1214;esp6500siv2_ea=0.1442;esp6500siv2_all=0.1214;esp6500siv2_ea=0.1442;1000g2015aug_all=0.208666;avsnp147=rs3829747;Kaviar_AF=0.170761;Kaviar_AC=26400;Kaviar_AN=154602;ExAC_ALL=0.1753;ExAC_AFR=0.0674;ExAC_AMR=0.1492;ExAC_EAS=0.4339;ExAC_FIN=0.1476;ExAC_NFE=0.1455;ExAC_OTH=0.17;ExAC_SAS=0.2551;CLNALLELEID=56827;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.02;FATHMM_pred=T;PROVEAN_score=-3.63;PROVEAN_pred=D;VEST3_score=0.297;CADD_raw=4.497;CADD_phred=24.3;DANN_score=0.949;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.963;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.421;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.674;GDI_full_10282015=.;dpsi_max_tissue=-0.0004;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1754;gnomAD_exome_AFR=0.0701;gnomAD_exome_AMR=0.1459;gnomAD_exome_ASJ=0.1690;gnomAD_exome_EAS=0.4298;gnomAD_exome_FIN=0.1523;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1591;gnomAD_exome_SAS=0.2526;gnomAD_genome_ALL=0.1458;gnomAD_genome_AFR=0.0740;gnomAD_genome_AMR=0.1623;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.4395;gnomAD_genome_FIN=0.1468;gnomAD_genome_NFE=0.1542;gnomAD_genome_OTH=0.1663;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-982.519,0,-879.141:971:449:494:15000:13588 . . . 0/1:-830.353,0,-922.297:919:468:429:13038:14136 . . . . . . 1/1:-1636.66,-203.293,0:738:6:710:19731:150 0/1:-754.315,0,-772.589:833:397:402:11707:11788 . . . . . . 0/1:-1083.08,0,-1174.33:1232:609:581:17022:18053 0/1:-630.375,0,-823.562:828:421:373:10507:12516 . . 0/1:-1135.85,0,-1150.16:1259:608:614:17853:18038 . . . . . 0/1:-862.525,0,-867.282:921:439:460:13250:13412 . . . . 0/1:-1032.4,0,-1055.13:1132:543:552:16088:16292 . . . 0/1:-978.844,0,-1280.18:1214:639:545:15943:19263 0/1:-599.146,0,-542.434:652:294:330:9502:8569 . 0/1:-1178.28,0,-1248.82:1280:624:615:18265:19027 0/1:-1110.7,0,-1115.57:1173:562:578:16992:17014 . . . 0/1:-585.113,0,-716.217:738:385:330:9455:11171 . 0/1:-886.391,0,-1236.29:1135:602:496:14362:18377 . . . . 0/1:-1266.26,0,-1272.86:1350:649:665:19417:19566 . 0/1:-608.424,0,-687.147:743:370:346:9909:10874 . . . 0/1:-1068.18,0,-886.507:1084:479:569:16372:14237 . . . . . . . . . 0/1:-1050.62,0,-1205.16:1222:611:577:16691:18737 . . 0/1:-1002.61,0,-1182.65:1204:612:550:15956:17937 0/1:-1388.55,0,-1290.21:1453:678:721:21289:20224 . . . . . 0/1:-1115.44,0,-1319:1329:669:611:17961:20261 . 1/1:-2276.34,-250.806,0:1000:15:952:27551:457 . 0/1:-903.017,0,-1020.25:1059:523:500:14449:15616 . . . . . . 0/1:-1069.87,0,-926.048:962:442:501:15584:13891:442,501 . . . . 0/1:-1043.35,0,-1198.83:1105:557:521:15928:17566:557,521 . 1/1:-2592.56,-260.425,0:1034:17:995:30658:500:17,995 . 0/1:-793.406,0,-840.31:778:387:376:11922:12324:387,376 . 0/1:-855.313,0,-969.518:906:460:423:13003:14228:460,423 . . . 0/1:-765.064,0,-972.811:852:453:386:11776:14192:453,386 . 0/1:-1130.42,0,-1054.27:1069:509:546:16735:15707:509,546 chr2 179398509 . C A 9835.69 . AB=0.487362;ABP=4.76669;AC=4;AF=0.5;AN=8;AO=617;CIGAR=1X;DP=4096;DPB=1266;DPRA=0;EPP=8.36331;EPPR=3.77015;GTI=0;LEN=1;MEANALT=3;MQM=38.8185;MQMR=39.2659;NS=1;NUMALT=1;ODDS=2605.23;PAIRED=0.982172;PAIREDR=0.975117;PAO=0;PQA=0;PQR=0;PRO=0;QA=17960;QR=19591;RO=643;RPL=227;RPP=96.5174;RPPR=126.21;RPR=390;RUN=1;SAF=324;SAP=6.39245;SAR=293;SF=0,1;SRF=364;SRP=27.4098;SRR=279;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G75638T:p.G25213V,TTN:NM_133432:exon187:c.G76013T:p.G25338V,TTN:NM_133437:exon187:c.G76214T:p.G25405V,TTN:NM_133378:exon307:c.G95129T:p.G31710V,TTN:NM_001256850:exon308:c.G97910T:p.G32637V,TTN:NM_001267550:exon358:c.G102833T:p.G34278V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0198;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0198;1000g2015aug_all=0.0780751;avsnp147=rs3731752;Kaviar_AF=0.0379491;Kaviar_AC=5867;Kaviar_AN=154602;ExAC_ALL=0.0392;ExAC_AFR=0.0706;ExAC_AMR=0.0292;ExAC_EAS=0.1651;ExAC_FIN=0.0027;ExAC_NFE=0.0212;ExAC_OTH=0.0422;ExAC_SAS=0.0489;CLNALLELEID=56819;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.075;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-5.45;PROVEAN_pred=D;VEST3_score=0.638;CADD_raw=3.098;CADD_phred=22.5;DANN_score=0.902;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.868;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.852;GDI_full_10282015=.;dpsi_max_tissue=-0.0012;dpsi_zscore=0.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0387;gnomAD_exome_AFR=0.0703;gnomAD_exome_AMR=0.0312;gnomAD_exome_ASJ=0.0412;gnomAD_exome_EAS=0.1750;gnomAD_exome_FIN=0.0033;gnomAD_exome_NFE=0.0202;gnomAD_exome_OTH=0.0360;gnomAD_exome_SAS=0.0478;gnomAD_genome_ALL=0.0397;gnomAD_genome_AFR=0.0727;gnomAD_genome_AMR=0.0371;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1583;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0185;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1150,0,-1286.13:1266:643:617:17960:19591 . . . . . . . . . . . . 0/1:-567.413,0,-537.333:590:282:298:8830:8481 . . . . . . . . 0/1:-1299.18,0,-1256.11:1309:629:672:20225:19390 . . . . . . . . . . . . . . . . . . . . . 0/1:-1009.43,0,-1027.26:931:464:463:14998:15080:464,463 . . . . . . . . . . . . . . . . . . chr2 179398747 . T C 12130.90 . AB=0.487654;ABP=4.72603;AC=1;AF=0.5;AN=2;AO=632;CIGAR=1X;DP=1296;DPB=1296;DPRA=0;EPP=13.7852;EPPR=17.7438;GTI=0;LEN=1;MEANALT=3;MQM=39.0285;MQMR=39.4533;NS=1;NUMALT=1;ODDS=2793.23;PAIRED=0.958861;PAIREDR=0.97352;PAO=0;PQA=0;PQR=0;PRO=0;QA=18925;QR=20823;RO=642;RPL=261;RPP=44.5844;RPPR=3.06442;RPR=371;RUN=1;SAF=343;SAP=13.0293;SAR=289;SF=0;SRF=327;SRP=3.49736;SRR=315;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A75400G:p.I25134V,TTN:NM_133432:exon187:c.A75775G:p.I25259V,TTN:NM_133437:exon187:c.A75976G:p.I25326V,TTN:NM_133378:exon307:c.A94891G:p.I31631V,TTN:NM_001256850:exon308:c.A97672G:p.I32558V,TTN:NM_001267550:exon358:c.A102595G:p.I34199V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs56347248;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0233;CLNALLELEID=56816;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.599;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.235;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.977;MutationTaster_pred=D;MutationAssessor_score=0.05;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-0.59;PROVEAN_pred=N;VEST3_score=0.301;CADD_raw=1.457;CADD_phred=13.09;DANN_score=0.859;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.792;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.59;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.011;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.421;GDI_full_10282015=.;dpsi_max_tissue=-0.0022;dpsi_zscore=0.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0220;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1227.5,0,-1373.03:1296:642:632:18925:20823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179398823 . GCC GC,ACC 9055.78 . AB=0.506418;ABP=3.31689;AC=1,34;AF=0.5;AN=64;AO=434;CIGAR=1X;DP=28451;DPB=857;DPRA=0;EPP=3.03031;EPPR=12.445;GTI=0;LEN=1;MEANALT=3;MQM=39.3134;MQMR=39.1823;NS=1;NUMALT=1;ODDS=1813.57;PAIRED=0.988479;PAIREDR=0.982759;PAO=0;PQA=0;PQR=0;PRO=0;QA=12697;QR=12372;RO=406;RPL=256;RPP=33.4509;RPPR=63.1055;RPR=178;RUN=1;SAF=228;SAP=5.43194;SAR=206;SF=0,1;SRF=220;SRP=9.19311;SRR=186;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TTN:NM_003319:exon186:c.75322delG:p.G25108fs,TTN:NM_133432:exon187:c.75697delG:p.G25233fs,TTN:NM_133437:exon187:c.75898delG:p.G25300fs,TTN:NM_133378:exon307:c.94813delG:p.G31605fs,TTN:NM_001256850:exon308:c.97594delG:p.G32532fs,TTN:NM_001267550:exon358:c.102517delG:p.G34173fs;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C75324T:p.G25108G,TTN:NM_133432:exon187:c.C75699T:p.G25233G,TTN:NM_133437:exon187:c.C75900T:p.G25300G,TTN:NM_133378:exon307:c.C94815T:p.G31605G,TTN:NM_001256850:exon308:c.C97596T:p.G32532G,TTN:NM_001267550:exon358:c.C102519T:p.G34173G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1449;esp6500siv2_ea=0.1465;esp6500siv2_all=0.1449;esp6500siv2_ea=0.1465;1000g2015aug_all=0.232029;avsnp147=rs2857265;Kaviar_AF=0.17743;Kaviar_AC=27431;Kaviar_AN=154602;ExAC_ALL=0.1823;ExAC_AFR=0.1409;ExAC_AMR=0.1525;ExAC_EAS=0.4329;ExAC_FIN=0.1477;ExAC_NFE=0.1468;ExAC_OTH=0.1767;ExAC_SAS=0.2548;CLNALLELEID=56814;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0044;dpsi_zscore=-0.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1815;gnomAD_exome_AFR=0.1427;gnomAD_exome_AMR=0.1492;gnomAD_exome_ASJ=0.1873;gnomAD_exome_EAS=0.4299;gnomAD_exome_FIN=0.1519;gnomAD_exome_NFE=0.1447;gnomAD_exome_OTH=0.1645;gnomAD_exome_SAS=0.2523;gnomAD_genome_ALL=0.1656;gnomAD_genome_AFR=0.1418;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.4395;gnomAD_genome_FIN=0.1467;gnomAD_genome_NFE=0.1549;gnomAD_genome_OTH=0.1755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/2:.,.,.,.,.,-803.218:857:406:.,434:.,12697:12372 . . . 0/2:.,.,.,.,.,-950.561:959:479:.,451:.,13121:14433 . . . . . . 2/2:.,.,.,.,.,0:809:11:.,764:.,21840:238 0/2:.,.,.,.,.,-725.201:762:384:.,354:.,10286:11066 . . . . . . 0/2:.,.,.,.,.,-990.095:1132:524:.,568:.,16433:15501 0/2:.,.,.,.,.,-812.878:846:429:.,383:.,10782:12478 . . 0/2:.,.,.,.,.,-1061.33:1276:583:.,656:.,18936:16883 . . . . . 0/2:.,.,.,.,.,-919.468:1003:495:.,472:.,13625:14400 . . . . 0/2:.,.,.,.,.,-1149.53:1105:561:.,508:.,14790:17197 . . . 0/2:.,.,.,.,.,-954.584:986:496:.,450:.,12848:14533 0/2:.,.,.,.,.,-609.116:597:300:.,275:.,7991:9100 . 0/2:.,.,.,.,.,-1250.87:1301:647:.,615:.,17442:19035 0/2:.,.,.,.,.,-986.522:1140:522:.,573:.,16753:15403 . . . 0/2:.,.,.,.,.,-676.045:819:363:.,419:.,11701:10670 0/1:-633.312,0,-764.718,.,.,.:837:383:363,.:10169,.:11511 0/2:.,.,.,.,.,-1043.88:1147:549:.,544:.,15504:16198 . . . . 0/2:.,.,.,.,.,-1116.17:1293:589:.,660:.,19277:17474 . 0/2:.,.,.,.,.,-687.06:749:369:.,350:.,9811:10675 . . . 0/2:.,.,.,.,.,-1014.53:1093:533:.,524:.,14793:15969 . . . . . . . . . 0/2:.,.,.,.,.,-1113.77:1196:573:.,579:.,16506:17237 . . 0/2:.,.,.,.,.,-1121.2:1167:584:.,536:.,15166:17245 0/2:.,.,.,.,.,-1076.48:1185:573:.,566:.,16218:16798 . . . . . 0/2:.,.,.,.,.,-949.672:1207:526:.,650:.,18529:15403 . 2/2:.,.,.,.,.,0:1115:29:.,1052:.,30192:762 . 0/2:.,.,.,.,.,-928.072:994:487:.,474:.,13347:14322 . . . . . . 0/2:.,.,.,.,.,-490.463:480:240:.,233:.,7048:7288:240,233 . . . . 0/2:.,.,.,.,.,-422.09:439:205:.,228:.,6888:6417:205,228 . 2/2:.,.,.,.,.,0:427:12:.,406:.,12161:345:12,406 . 0/2:.,.,.,.,.,-334.79:372:180:.,187:.,5656:5306:180,187 . 0/2:.,.,.,.,.,-411.249:398:194:.,190:.,5588:6208:194,190 . . . 0/2:.,.,.,.,.,-411.034:378:196:.,175:.,5268:6044:196,175 . 0/2:.,.,.,.,.,-376.09:382:185:.,187:.,5537:5676:185,187 chr2 179399264 . A G 12423.80 . AB=0.504658;ABP=3.25307;AC=1;AF=0.5;AN=2;AO=650;CIGAR=1X;DP=1288;DPB=1288;DPRA=0;EPP=46.4264;EPPR=52.4148;GTI=0;LEN=1;MEANALT=3;MQM=38.7985;MQMR=39.5261;NS=1;NUMALT=1;ODDS=2858.17;PAIRED=0.969231;PAIREDR=0.97549;PAO=0;PQA=0;PQR=0;PRO=0;QA=19630;QR=19606;RO=612;RPL=372;RPP=32.529;RPPR=82.8438;RPR=278;RUN=1;SAF=228;SAP=128.742;SAR=422;SF=0;SRF=184;SRP=214.253;SRR=428;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.T74883C:p.N24961N,TTN:NM_133432:exon187:c.T75258C:p.N25086N,TTN:NM_133437:exon187:c.T75459C:p.N25153N,TTN:NM_133378:exon307:c.T94374C:p.N31458N,TTN:NM_001256850:exon308:c.T97155C:p.N32385N,TTN:NM_001267550:exon358:c.T102078C:p.N34026N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774398198;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.284e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0007;dpsi_zscore=0.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.222e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.7e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-1270.85,0,-1284.36:1288:612:650:19630:19606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179399315 . CAA CA 10306.70 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=582;CIGAR=1M1D1M;DP=1164;DPB=983;DPRA=0;EPP=177.086;EPPR=288.183;GTI=0;LEN=1;MEANALT=10;MQM=38.555;MQMR=40.2595;NS=1;NUMALT=1;ODDS=2373.2;PAIRED=0.979381;PAIREDR=0.989111;PAO=19.5;PQA=523;PQR=479;PRO=17.5;QA=17107;QR=18195;RO=551;RPL=384;RPP=132.09;RPPR=110.303;RPR=198;RUN=1;SAF=185;SAP=170.699;SAR=397;SF=0;SRF=186;SRP=129.283;SRR=365;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon186:c.74830delT:p.L24944X,TTN:NM_133432:exon187:c.75205delT:p.L25069X,TTN:NM_133437:exon187:c.75406delT:p.L25136X,TTN:NM_133378:exon307:c.94321delT:p.L31441X,TTN:NM_001256850:exon308:c.97102delT:p.L32368X,TTN:NM_001267550:exon358:c.102025delT:p.L34009X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1086.96,0,-1203.53:1164:551:582:17107:18195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179399451 . C T 11972.90 . AB=0.483309;ABP=6.34472;AC=1;AF=0.5;AN=2;AO=666;CIGAR=1X;DP=1378;DPB=1378;DPRA=0;EPP=88.5781;EPPR=29.0294;GTI=0;LEN=1;MEANALT=3;MQM=39.2898;MQMR=39.4216;NS=1;NUMALT=1;ODDS=2756.86;PAIRED=0.951952;PAIREDR=0.963018;PAO=0;PQA=0;PQR=0;PRO=0;QA=19036;QR=20179;RO=676;RPL=253;RPP=86.4783;RPPR=161.322;RPR=413;RUN=1;SAF=407;SAP=74.4276;SAR=259;SF=0;SRF=410;SRP=69.6193;SRR=266;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74696A:p.R24899H,TTN:NM_133432:exon187:c.G75071A:p.R25024H,TTN:NM_133437:exon187:c.G75272A:p.R25091H,TTN:NM_133378:exon307:c.G94187A:p.R31396H,TTN:NM_001256850:exon308:c.G96968A:p.R32323H,TTN:NM_001267550:exon358:c.G101891A:p.R33964H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs55669553;Kaviar_AF=0.0037516;Kaviar_AC=580;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0022;ExAC_SAS=0.0238;CLNALLELEID=56807;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.105;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.815;MutationAssessor_pred=L;FATHMM_score=0.72;FATHMM_pred=T;PROVEAN_score=-3.49;PROVEAN_pred=D;VEST3_score=0.399;CADD_raw=4.009;CADD_phred=23.6;DANN_score=0.927;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.142;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.14;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.068;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.569;GDI_full_10282015=.;dpsi_max_tissue=-0.0155;dpsi_zscore=-0.075;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0224;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1229.74,0,-1322.15:1378:676:666:19036:20179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179399576 . C G 9321.83 . AB=0.506928;ABP=3.37138;AC=3;AF=0.5;AN=6;AO=439;CIGAR=1X;DP=2876;DPB=866;DPRA=0;EPP=107.008;EPPR=157.435;GTI=0;LEN=1;MEANALT=3;MQM=39.9339;MQMR=40.2933;NS=1;NUMALT=1;ODDS=1873.24;PAIRED=0.984055;PAIREDR=0.973558;PAO=0;PQA=0;PQR=0;PRO=0;QA=12675;QR=12842;RO=416;RPL=176;RPP=40.4496;RPPR=78.1767;RPR=263;RUN=1;SAF=198;SAP=12.1562;SAR=241;SF=0;SRF=208;SRP=3.0103;SRR=208;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74571C:p.Q24857H,TTN:NM_133432:exon187:c.G74946C:p.Q24982H,TTN:NM_133437:exon187:c.G75147C:p.Q25049H,TTN:NM_133378:exon307:c.G94062C:p.Q31354H,TTN:NM_001256850:exon308:c.G96843C:p.Q32281H,TTN:NM_001267550:exon358:c.G101766C:p.Q33922H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0104;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0104;1000g2015aug_all=0.00459265;avsnp147=rs55886356;Kaviar_AF=0.0070568;Kaviar_AC=1091;Kaviar_AN=154602;ExAC_ALL=0.0068;ExAC_AFR=0.0021;ExAC_AMR=0.0083;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0099;ExAC_OTH=0.0068;ExAC_SAS=0.0020;CLNALLELEID=56805;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.825;MutationAssessor_pred=M;FATHMM_score=0.51;FATHMM_pred=T;PROVEAN_score=-3.69;PROVEAN_pred=D;VEST3_score=0.427;CADD_raw=1.720;CADD_phred=14.52;DANN_score=0.865;fathmm-MKL_coding_score=0.918;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.481;MetaSVM_pred=T;MetaLR_score=0.265;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.99;phyloP7way_vertebrate=-0.048;phyloP20way_mammalian=0.077;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=8.901;GDI_full_10282015=.;dpsi_max_tissue=0.0015;dpsi_zscore=0.017;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516197#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.0101;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0110;gnomAD_exome_OTH=0.0107;gnomAD_exome_SAS=0.0018;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0099;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-836.742,0,-847.18:866:416:439:12675:12842 . . . . . . . 0/1:-976.842,0,-817.267:928:422:485:14464:12728 . . . . . . . 0/1:-1053.23,0,-1097.22:1082:535:527:15950:16502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179399936 . G C 10975.20 . AB=0.522287;ABP=7.46266;AC=1;AF=0.5;AN=2;AO=539;CIGAR=1X;DP=1032;DPB=1032;DPRA=0;EPP=50.8754;EPPR=39.6539;GTI=0;LEN=1;MEANALT=3;MQM=39.1818;MQMR=39.0646;NS=1;NUMALT=1;ODDS=2236.93;PAIRED=0.955473;PAIREDR=0.970833;PAO=0;PQA=0;PQR=0;PRO=0;QA=16882;QR=15460;RO=480;RPL=358;RPP=129.226;RPPR=53.8408;RPR=181;RUN=1;SAF=230;SAP=28.1535;SAR=309;SF=0;SRF=224;SRP=7.64277;SRR=256;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C74211G:p.V24737V,TTN:NM_133432:exon187:c.C74586G:p.V24862V,TTN:NM_133437:exon187:c.C74787G:p.V24929V,TTN:NM_133378:exon307:c.C93702G:p.V31234V,TTN:NM_001256850:exon308:c.C96483G:p.V32161V,TTN:NM_001267550:exon358:c.C101406G:p.V33802V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;1000g2015aug_all=0.00599042;avsnp147=rs55802460;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0233;CLNALLELEID=56802;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0012;dpsi_zscore=0.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0220;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1126.42,0,-989.402:1032:480:539:16882:15460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179399973 . A T 7453.54 . AB=0.481087;ABP=5.63865;AC=1;AF=0.5;AN=2;AO=407;CIGAR=1X;DP=846;DPB=846;DPRA=0;EPP=53.2103;EPPR=54.4052;GTI=0;LEN=1;MEANALT=3;MQM=38.9558;MQMR=39.1137;NS=1;NUMALT=1;ODDS=1716.24;PAIRED=0.985258;PAIREDR=0.962877;PAO=0;PQA=0;PQR=0;PRO=0;QA=11874;QR=13283;RO=431;RPL=213;RPP=4.93635;RPPR=13.2127;RPR=194;RUN=1;SAF=221;SAP=9.54606;SAR=186;SF=0;SRF=244;SRP=19.3795;SRR=187;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.T74174A:p.M24725K,TTN:NM_133432:exon187:c.T74549A:p.M24850K,TTN:NM_133437:exon187:c.T74750A:p.M24917K,TTN:NM_133378:exon307:c.T93665A:p.M31222K,TTN:NM_001256850:exon308:c.T96446A:p.M32149K,TTN:NM_001267550:exon358:c.T101369A:p.M33790K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=228565;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.911;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_pred=D;VEST3_score=0.507;CADD_raw=1.886;CADD_phred=15.50;DANN_score=0.874;fathmm-MKL_coding_score=0.912;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.879;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=4.64;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.158;GDI_full_10282015=.;dpsi_max_tissue=0.0001;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-759.173,0,-863.34:846:431:407:11874:13283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179400586 . A G 2030.26 . AB=0.359404;ABP=95.2109;AC=1;AF=0.5;AN=2;AO=193;CIGAR=1X;DP=537;DPB=537;DPRA=0;EPP=11.2124;EPPR=25.3344;GTI=0;LEN=1;MEANALT=3;MQM=29.2591;MQMR=24.0632;NS=1;NUMALT=1;ODDS=467.485;PAIRED=0.896373;PAIREDR=0.940711;PAO=0;PQA=0;PQR=0;PRO=0;QA=5063;QR=7541;RO=253;RPL=119;RPP=25.7939;RPPR=3.08755;RPR=74;RUN=1;SAF=131;SAP=56.577;SAR=62;SF=0;SRF=153;SRP=27.1197;SRR=100;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0050;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0050;1000g2015aug_all=0.0233626;avsnp147=rs202214630;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;ExAC_ALL=0.2569;ExAC_AFR=0.0395;ExAC_AMR=0.2781;ExAC_EAS=0.3487;ExAC_FIN=0.3905;ExAC_NFE=0.2483;ExAC_OTH=0.2931;ExAC_SAS=0.0941;CLNALLELEID=102218;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3003;dpsi_zscore=-0.854;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0743;gnomAD_exome_AFR=0.0124;gnomAD_exome_AMR=0.0759;gnomAD_exome_ASJ=0.0458;gnomAD_exome_EAS=0.1413;gnomAD_exome_FIN=0.1575;gnomAD_exome_NFE=0.0647;gnomAD_exome_OTH=0.0684;gnomAD_exome_SAS=0.0193;gnomAD_genome_ALL=0.0285;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0457;gnomAD_genome_ASJ=0.0369;gnomAD_genome_EAS=0.0638;gnomAD_genome_FIN=0.1318;gnomAD_genome_NFE=0.0254;gnomAD_genome_OTH=0.0398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-220.481,0,-308.937:537:253:193:5063:7541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179400895 . C T 6248.33 . AB=0.483909;ABP=4.89707;AC=3;AF=0.5;AN=6;AO=406;CIGAR=1X;DP=2131;DPB=839;DPRA=0;EPP=29.2177;EPPR=30.7604;GTI=0;LEN=1;MEANALT=3;MQM=38.7389;MQMR=38.6595;NS=1;NUMALT=1;ODDS=1870.29;PAIRED=0.982759;PAIREDR=0.956835;PAO=0;PQA=0;PQR=0;PRO=0;QA=12714;QR=13061;RO=417;RPL=223;RPP=11.5678;RPPR=3.05717;RPR=183;RUN=1;SAF=189;SAP=7.20349;SAR=217;SF=0;SRF=183;SRP=16.5547;SRR=234;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.G73384A:p.V24462I,TTN:NM_133432:exon186:c.G73759A:p.V24587I,TTN:NM_133437:exon186:c.G73960A:p.V24654I,TTN:NM_133378:exon306:c.G92875A:p.V30959I,TTN:NM_001256850:exon307:c.G95656A:p.V31886I,TTN:NM_001267550:exon357:c.G100579A:p.V33527I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0174;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0174;1000g2015aug_all=0.0654952;avsnp147=rs2278196;Kaviar_AF=0.0303554;Kaviar_AC=4693;Kaviar_AN=154602;ExAC_ALL=0.0312;ExAC_AFR=0.0714;ExAC_AMR=0.0280;ExAC_EAS=0.1467;ExAC_FIN=0.0021;ExAC_NFE=0.0182;ExAC_OTH=0.0337;ExAC_SAS=0.0138;CLNALLELEID=56793;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.306;SIFT_pred=T;Polyphen2_HDIV_score=0.774;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.079;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=0.175;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_pred=T;PROVEAN_score=-0.37;PROVEAN_pred=N;VEST3_score=0.194;CADD_raw=3.526;CADD_phred=23.1;DANN_score=0.868;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.982;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.730;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.959;GDI_full_10282015=.;dpsi_max_tissue=-0.0336;dpsi_zscore=-0.185;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0312;gnomAD_exome_AFR=0.0701;gnomAD_exome_AMR=0.0300;gnomAD_exome_ASJ=0.0254;gnomAD_exome_EAS=0.1551;gnomAD_exome_FIN=0.0032;gnomAD_exome_NFE=0.0179;gnomAD_exome_OTH=0.0313;gnomAD_exome_SAS=0.0140;gnomAD_genome_ALL=0.0377;gnomAD_genome_AFR=0.0721;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.1393;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0169;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-823.953,0,-843.408:839:417:406:12714:13061 . . . . . . . . . . . . 0/1:-398.324,0,-424.642:437:221:207:6399:6850 . . . . . . . . 0/1:-693.11,0,-1004.12:855:475:362:11505:14821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179401027 . C G 7069.29 . AB=0.486968;ABP=4.08561;AC=1;AF=0.5;AN=2;AO=355;CIGAR=1X;DP=729;DPB=729;DPRA=0;EPP=35.6069;EPPR=39.3049;GTI=0;LEN=1;MEANALT=3;MQM=39.8169;MQMR=40.5467;NS=1;NUMALT=1;ODDS=1627.76;PAIRED=0.96338;PAIREDR=0.945055;PAO=0;PQA=0;PQR=0;PRO=0;QA=10937;QR=11418;RO=364;RPL=227;RPP=62.9613;RPPR=37.4675;RPR=128;RUN=1;SAF=202;SAP=17.6968;SAR=153;SF=1;SRF=203;SRP=13.5336;SRR=161;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.G73252C:p.E24418Q,TTN:NM_133432:exon186:c.G73627C:p.E24543Q,TTN:NM_133437:exon186:c.G73828C:p.E24610Q,TTN:NM_133378:exon306:c.G92743C:p.E30915Q,TTN:NM_001256850:exon307:c.G95524C:p.E31842Q,TTN:NM_001267550:exon357:c.G100447C:p.E33483Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs368321767;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=6.118e-05;CLNALLELEID=198753;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.1;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.993;MutationTaster_pred=D;MutationAssessor_score=1.26;MutationAssessor_pred=L;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-1.71;PROVEAN_pred=N;VEST3_score=0.213;CADD_raw=2.555;CADD_phred=19.82;DANN_score=0.902;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.146;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.445;GDI_full_10282015=.;dpsi_max_tissue=-0.0090;dpsi_zscore=-0.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.971e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.493e-05;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.757e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-725.401,0,-770.328:729:364:355:10937:11418:364,355 . . . . . . . . . . . . . . . . . . chr2 179401042 . A C 7185.73 . AB=0.481081;ABP=5.31089;AC=1;AF=0.5;AN=2;AO=356;CIGAR=1X;DP=740;DPB=740;DPRA=0;EPP=18.2594;EPPR=22.3353;GTI=0;LEN=1;MEANALT=3;MQM=40.2556;MQMR=40.5265;NS=1;NUMALT=1;ODDS=1654.58;PAIRED=0.969101;PAIREDR=0.933862;PAO=0;PQA=0;PQR=0;PRO=0;QA=10968;QR=12176;RO=378;RPL=176;RPP=3.10789;RPPR=31.159;RPR=180;RUN=1;SAF=181;SAP=3.22989;SAR=175;SF=1;SRF=204;SRP=8.18047;SRR=174;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.T73237G:p.W24413G,TTN:NM_133432:exon186:c.T73612G:p.W24538G,TTN:NM_133437:exon186:c.T73813G:p.W24605G,TTN:NM_133378:exon306:c.T92728G:p.W30910G,TTN:NM_001256850:exon307:c.T95509G:p.W31837G,TTN:NM_001267550:exon357:c.T100432G:p.W33478G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs372304158;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=6.102e-05;CLNALLELEID=198754;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.958;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.405;MutationAssessor_pred=L;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-7.9;PROVEAN_pred=D;VEST3_score=0.646;CADD_raw=2.613;CADD_phred=20.3;DANN_score=0.908;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.543;MetaSVM_pred=T;MetaLR_score=0.270;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.068;GDI_full_10282015=.;dpsi_max_tissue=-0.1891;dpsi_zscore=-0.665;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.973e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.493e-05;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.754e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-727.927,0,-828.099:740:378:356:10968:12176:378,356 . . . . . . . . . . . . . . . . . . chr2 179401311 . CAAAAAAAAG CAAAAAAAAAG 2130.36 . AB=0.360849;ABP=74.3206;AC=4;AF=0.5;AN=8;AO=153;CIGAR=1M1I9M;DP=1746;DPB=447.6;DPRA=0;EPP=8.13384;EPPR=4.70971;GTI=0;LEN=1;MEANALT=50;MQM=39.1765;MQMR=40.788;NS=1;NUMALT=1;ODDS=522.759;PAIRED=0.96732;PAIREDR=0.98913;PAO=7;PQA=203.5;PQR=203.5;PRO=7;QA=3974;QR=5657;RO=184;RPL=101;RPP=37.0868;RPPR=45.4956;RPR=52;RUN=1;SAF=66;SAP=9.26925;SAR=87;SF=0;SRF=74;SRP=18.305;SRR=110;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0072;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0072;1000g2015aug_all=0.00359425;avsnp147=rs397517782;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;ExAC_ALL=0.0057;ExAC_AFR=0.0013;ExAC_AMR=0.0052;ExAC_EAS=0;ExAC_FIN=0.0032;ExAC_NFE=0.0066;ExAC_OTH=0.0027;ExAC_SAS=0.0118;CLNALLELEID=56790;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0046;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0063;gnomAD_exome_OTH=0.0056;gnomAD_exome_SAS=0.0107;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0019;gnomAD_genome_NFE=0.0094;gnomAD_genome_OTH=0.0107;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-239.164,0,-382.555:424:184:153:3974:5657 . . . . . . . . . . . . . . . 0/1:-209.993,0,-391.122:448:186:145:3577:5689 . . . . . . . . . . . . . . . . 0/1:-216.695,0,-346.612:395:174:147:3695:5188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-235.862,0,-444.415:479:213:168:4107:6496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179401740 . C T 10039.50 . AB=0.473639;ABP=10.1082;AC=1;AF=0.5;AN=2;AO=557;CIGAR=1X;DP=1176;DPB=1176;DPRA=0;EPP=114.356;EPPR=57.0574;GTI=0;LEN=1;MEANALT=3;MQM=37.5332;MQMR=39.0769;NS=1;NUMALT=1;ODDS=2311.68;PAIRED=0.965889;PAIREDR=0.968227;PAO=0;PQA=0;PQR=0;PRO=0;QA=17074;QR=18822;RO=598;RPL=120;RPP=394.768;RPPR=308.396;RPR=437;RUN=1;SAF=369;SAP=130.73;SAR=188;SF=0;SRF=390;SRP=123.291;SRR=208;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72901A:p.V24301I,TTN:NM_133432:exon185:c.G73276A:p.V24426I,TTN:NM_133437:exon185:c.G73477A:p.V24493I,TTN:NM_133378:exon305:c.G92392A:p.V30798I,TTN:NM_001256850:exon306:c.G95173A:p.V31725I,TTN:NM_001267550:exon356:c.G100096A:p.V33366I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0207;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0207;1000g2015aug_all=0.0231629;avsnp147=rs55675869;Kaviar_AF=0.0262739;Kaviar_AC=4062;Kaviar_AN=154602;ExAC_ALL=0.0288;ExAC_AFR=0.0039;ExAC_AMR=0.0375;ExAC_EAS=0.0714;ExAC_FIN=0.0684;ExAC_NFE=0.0266;ExAC_OTH=0.0284;ExAC_SAS=0.0077;CLNALLELEID=56789;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.29;MutationAssessor_pred=L;FATHMM_score=-0.51;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_pred=N;VEST3_score=0.222;CADD_raw=3.001;CADD_phred=22.2;DANN_score=0.889;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.587;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=19.497;GDI_full_10282015=.;dpsi_max_tissue=0.0778;dpsi_zscore=0.410;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0282;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0341;gnomAD_exome_ASJ=0.0149;gnomAD_exome_EAS=0.0667;gnomAD_exome_FIN=0.0648;gnomAD_exome_NFE=0.0235;gnomAD_exome_OTH=0.0278;gnomAD_exome_SAS=0.0066;gnomAD_genome_ALL=0.0259;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0624;gnomAD_genome_FIN=0.0670;gnomAD_genome_NFE=0.0243;gnomAD_genome_OTH=0.0336;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1078.12,0,-1242.19:1176:598:557:17074:18822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179401742 . C T 10718.90 . AB=0.529982;ABP=11.8647;AC=1;AF=0.5;AN=2;AO=601;CIGAR=1X;DP=1134;DPB=1134;DPRA=0;EPP=61.286;EPPR=100.283;GTI=0;LEN=1;MEANALT=3;MQM=37.3062;MQMR=39.2122;NS=1;NUMALT=1;ODDS=2151.25;PAIRED=0.945092;PAIREDR=0.958743;PAO=0;PQA=0;PQR=0;PRO=0;QA=17764;QR=15547;RO=509;RPL=154;RPP=313.191;RPPR=230.657;RPR=447;RUN=1;SAF=404;SAP=157.828;SAR=197;SF=0;SRF=343;SRP=136.665;SRR=166;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72899A:p.R24300Q,TTN:NM_133432:exon185:c.G73274A:p.R24425Q,TTN:NM_133437:exon185:c.G73475A:p.R24492Q,TTN:NM_133378:exon305:c.G92390A:p.R30797Q,TTN:NM_001256850:exon306:c.G95171A:p.R31724Q,TTN:NM_001267550:exon356:c.G100094A:p.R33365Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0160;esp6500siv2_ea=0.0210;esp6500siv2_all=0.0160;esp6500siv2_ea=0.0210;1000g2015aug_all=0.00479233;avsnp147=rs55742743;Kaviar_AF=0.0129235;Kaviar_AC=1998;Kaviar_AN=154602;ExAC_ALL=0.0128;ExAC_AFR=0.0039;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0.0022;ExAC_NFE=0.0193;ExAC_OTH=0.0118;ExAC_SAS=0.0070;CLNALLELEID=56788;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.935;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-3.07;PROVEAN_pred=D;VEST3_score=0.512;CADD_raw=4.269;CADD_phred=23.9;DANN_score=0.975;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.120;MetaSVM_pred=T;MetaLR_score=0.316;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.497;GDI_full_10282015=.;dpsi_max_tissue=-0.1572;dpsi_zscore=-0.597;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0124;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0.0222;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0025;gnomAD_exome_NFE=0.0201;gnomAD_exome_OTH=0.0124;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0121;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0199;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1135.59,0,-990.952:1134:509:601:17764:15547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179401777 . A T 10834.80 . AB=0.469108;ABP=13.8776;AC=1;AF=0.5;AN=2;AO=615;CIGAR=1X;DP=1311;DPB=1311;DPRA=0;EPP=191.42;EPPR=263.447;GTI=0;LEN=1;MEANALT=3;MQM=37.948;MQMR=38.2889;NS=1;NUMALT=1;ODDS=2494.8;PAIRED=0.962602;PAIREDR=0.963343;PAO=0;PQA=0;PQR=0;PRO=0;QA=17828;QR=20365;RO=682;RPL=341;RPP=18.8603;RPPR=3.8254;RPR=274;RUN=1;SAF=339;SAP=17.0242;SAR=276;SF=0;SRF=379;SRP=21.401;SRR=303;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.T72864A:p.I24288I,TTN:NM_133432:exon185:c.T73239A:p.I24413I,TTN:NM_133437:exon185:c.T73440A:p.I24480I,TTN:NM_133378:exon305:c.T92355A:p.I30785I,TTN:NM_001256850:exon306:c.T95136A:p.I31712I,TTN:NM_001267550:exon356:c.T100059A:p.I33353I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;1000g2015aug_all=0.00599042;avsnp147=rs56026369;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0012;ExAC_SAS=0.0243;CLNALLELEID=56787;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0823;dpsi_zscore=-0.392;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.853e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0219;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1114.63,0,-1315.27:1311:682:615:17828:20365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179401870 . C A 10442.60 . AB=0.468567;ABP=13.2488;AC=1;AF=0.5;AN=2;AO=559;CIGAR=1X;DP=1193;DPB=1193;DPRA=0;EPP=65.6645;EPPR=58.2576;GTI=0;LEN=1;MEANALT=3;MQM=37.8068;MQMR=38.8045;NS=1;NUMALT=1;ODDS=2404.5;PAIRED=0.964222;PAIREDR=0.961538;PAO=0;PQA=0;PQR=0;PRO=0;QA=17141;QR=19413;RO=624;RPL=327;RPP=38.0685;RPPR=61.821;RPR=232;RUN=1;SAF=214;SAP=69.6733;SAR=345;SF=0;SRF=240;SRP=75.17;SRR=384;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72771T:p.W24257C,TTN:NM_133432:exon185:c.G73146T:p.W24382C,TTN:NM_133437:exon185:c.G73347T:p.W24449C,TTN:NM_133378:exon305:c.G92262T:p.W30754C,TTN:NM_001256850:exon306:c.G95043T:p.W31681C,TTN:NM_001267550:exon356:c.G99966T:p.W33322C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775769503;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.23e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=283930;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.958;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.67;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-6.64;PROVEAN_pred=D;VEST3_score=0.563;CADD_raw=3.357;CADD_phred=22.9;DANN_score=0.956;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.839;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.65;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.943;GDI_full_10282015=.;dpsi_max_tissue=-0.0222;dpsi_zscore=-0.118;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.897e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.604e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1069.63,0,-1274.35:1193:624:559:17141:19413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179402072 . G A 8157.23 . AB=0.519231;ABP=5.84992;AC=1;AF=0.5;AN=2;AO=459;CIGAR=1X;DP=884;DPB=884;DPRA=0;EPP=197.965;EPPR=133.109;GTI=0;LEN=1;MEANALT=3;MQM=38.8453;MQMR=39.6958;NS=1;NUMALT=1;ODDS=1633.2;PAIRED=0.978214;PAIREDR=0.977556;PAO=0;PQA=0;PQR=0;PRO=0;QA=13102;QR=11639;RO=401;RPL=187;RPP=37.1909;RPPR=18.2214;RPR=272;RUN=1;SAF=147;SAP=131.808;SAR=312;SF=0;SRF=131;SRP=107.636;SRR=270;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon183:c.C72667T:p.Q24223X,TTN:NM_133432:exon184:c.C73042T:p.Q24348X,TTN:NM_133437:exon184:c.C73243T:p.Q24415X,TTN:NM_133378:exon304:c.C92158T:p.Q30720X,TTN:NM_001256850:exon305:c.C94939T:p.Q31647X,TTN:NM_001267550:exon355:c.C99862T:p.Q33288X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=32.086;CADD_phred=70;DANN_score=0.964;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.79;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.036;GDI_full_10282015=.;dpsi_max_tissue=-81.7074;dpsi_zscore=-4.238;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-861.137,0,-743.4:884:401:459:13102:11639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179403661 . T G 5353.92 . AB=0.435239;ABP=34.2293;AC=1;AF=0.5;AN=2;AO=373;CIGAR=1X;DP=857;DPB=857;DPRA=0;EPP=39.3432;EPPR=69.2586;GTI=0;LEN=1;MEANALT=3;MQM=38.5979;MQMR=38.7309;NS=1;NUMALT=1;ODDS=1232.79;PAIRED=0.978552;PAIREDR=0.993644;PAO=0;PQA=0;PQR=0;PRO=0;QA=9867;QR=13706;RO=472;RPL=113;RPP=128.81;RPPR=103.781;RPR=260;RUN=1;SAF=70;SAP=319.061;SAR=303;SF=0;SRF=92;SRP=384.601;SRR=380;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs72648275;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=8.716e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=283211;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0851;dpsi_zscore=-0.402;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.424e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.272e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-596.133,0,-904.953:857:472:373:9867:13706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179403750 . C T 10128.76 . AB=0.502846;ABP=3.08447;AC=9;AF=0.5;AN=16;AO=530;CIGAR=1X;DP=7145;DPB=1054;DPRA=0;EPP=121.417;EPPR=129.245;GTI=0;LEN=1;MEANALT=3;MQM=37.9302;MQMR=39.6402;NS=1;NUMALT=1;ODDS=2257.1;PAIRED=0.918868;PAIREDR=0.934394;PAO=0;PQA=0;PQR=0;PRO=0;QA=15995;QR=15662;RO=503;RPL=146;RPP=235.087;RPPR=126.309;RPR=384;RUN=1;SAF=276;SAP=4.9933;SAR=254;SF=0,1;SRF=232;SRP=9.57652;SRR=271;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon181:c.G71717A:p.R23906H,TTN:NM_133432:exon182:c.G72092A:p.R24031H,TTN:NM_133437:exon182:c.G72293A:p.R24098H,TTN:NM_133378:exon302:c.G91208A:p.R30403H,TTN:NM_001256850:exon303:c.G93989A:p.R31330H,TTN:NM_001267550:exon353:c.G98912A:p.R32971H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0244;esp6500siv2_ea=0.0287;esp6500siv2_all=0.0244;esp6500siv2_ea=0.0287;1000g2015aug_all=0.076877;avsnp147=rs4894028;Kaviar_AF=0.0646175;Kaviar_AC=9990;Kaviar_AN=154602;ExAC_ALL=0.0680;ExAC_AFR=0.0135;ExAC_AMR=0.1953;ExAC_EAS=0.0257;ExAC_FIN=0.0591;ExAC_NFE=0.0324;ExAC_OTH=0.0689;ExAC_SAS=0.1813;CLNALLELEID=56774;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.29;MutationAssessor_pred=H;FATHMM_score=0.15;FATHMM_pred=T;PROVEAN_score=-3.71;PROVEAN_pred=D;VEST3_score=0.399;CADD_raw=4.332;CADD_phred=24.0;DANN_score=0.966;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.475;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.621;GDI_full_10282015=.;dpsi_max_tissue=-0.0434;dpsi_zscore=-0.235;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0744;gnomAD_exome_AFR=0.0118;gnomAD_exome_AMR=0.1945;gnomAD_exome_ASJ=0.0305;gnomAD_exome_EAS=0.0275;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0323;gnomAD_exome_OTH=0.0626;gnomAD_exome_SAS=0.1808;gnomAD_genome_ALL=0.0316;gnomAD_genome_AFR=0.0133;gnomAD_genome_AMR=0.1663;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0281;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0284;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-1024.62,0,-1019.53:1054:503:530:15995:15662 . . . . 0/1:-666.571,0,-789.907:767:397:354:10716:12232 . . . . . . . . . . . . . . . . . . . . . . 0/1:-447.422,0,-353.681:407:183:218:6841:5649 . 1/1:-2501.44,-253.414,0:1035:21:988:30703:603 . . . . . 0/1:-630.372,0,-572.304:631:301:321:9772:9277 0/1:-804.893,0,-1050.7:942:502:417:12874:15777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1266.27,0,-1282.14:1214:604:587:18771:19101:604,587 0/1:-1151.03,0,-1143.82:1095:535:548:17228:16980:535,548 . . . . . . . . . . . . . . . . . . chr2 179403946 . C T 5832.23 . AB=0.446689;ABP=25.0053;AC=2;AF=0.5;AN=4;AO=398;CIGAR=1X;DP=1519;DPB=891;DPRA=0;EPP=20.1202;EPPR=59.336;GTI=0;LEN=1;MEANALT=3;MQM=37.3844;MQMR=38.4674;NS=1;NUMALT=1;ODDS=1616.07;PAIRED=0.98995;PAIREDR=0.96;PAO=0;PQA=0;PQR=0;PRO=0;QA=11789;QR=14912;RO=475;RPL=237;RPP=34.5239;RPPR=118.583;RPR=161;RUN=1;SAF=222;SAP=14.5551;SAR=176;SF=0;SRF=248;SRP=5.02634;SRR=227;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon181:c.G71521A:p.V23841I,TTN:NM_133432:exon182:c.G71896A:p.V23966I,TTN:NM_133437:exon182:c.G72097A:p.V24033I,TTN:NM_133378:exon302:c.G91012A:p.V30338I,TTN:NM_001256850:exon303:c.G93793A:p.V31265I,TTN:NM_001267550:exon353:c.G98716A:p.V32906I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs182683829;Kaviar_AF=0.0005821;Kaviar_AC=90;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0011;ExAC_SAS=0.0001;CLNALLELEID=193804;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.463;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.925;MutationTaster_pred=N;MutationAssessor_score=1.035;MutationAssessor_pred=L;FATHMM_score=0.26;FATHMM_pred=T;PROVEAN_score=-0.37;PROVEAN_pred=N;VEST3_score=0.047;CADD_raw=1.980;CADD_phred=16.09;DANN_score=0.818;fathmm-MKL_coding_score=0.673;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.931;MetaSVM_pred=T;MetaLR_score=0.133;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=2.45;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=8.881;GDI_full_10282015=.;dpsi_max_tissue=0.0108;dpsi_zscore=0.074;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.986e-05;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=9.75e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-717.117,0,-988.23:891:475:398:11789:14912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-480,0,-616.225:628:328:291:8372:10015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179404192 . T A 8508.05 . AB=0.481444;ABP=5.99199;AC=1;AF=0.5;AN=2;AO=480;CIGAR=1X;DP=997;DPB=997;DPRA=0;EPP=11.7686;EPPR=5.276;GTI=0;LEN=1;MEANALT=3;MQM=38.6063;MQMR=38.432;NS=1;NUMALT=1;ODDS=1959.05;PAIRED=0.960417;PAIREDR=0.968442;PAO=0;PQA=0;PQR=0;PRO=0;QA=13810;QR=15818;RO=507;RPL=298;RPP=63.8839;RPPR=44.9878;RPR=182;RUN=1;SAF=156;SAP=130.693;SAR=324;SF=0;SRF=152;SRP=179.508;SRR=355;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A71405T:p.H23802L,TTN:NM_133432:exon181:c.A71780T:p.H23927L,TTN:NM_133437:exon181:c.A71981T:p.H23994L,TTN:NM_133378:exon301:c.A90896T:p.H30299L,TTN:NM_001256850:exon302:c.A93677T:p.H31226L,TTN:NM_001267550:exon352:c.A98600T:p.H32867L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.644;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.415;MutationAssessor_pred=N;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-7.45;PROVEAN_pred=D;VEST3_score=0.755;CADD_raw=3.122;CADD_phred=22.6;DANN_score=0.910;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.607;MetaSVM_pred=T;MetaLR_score=0.216;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.904;GDI_full_10282015=.;dpsi_max_tissue=-0.0089;dpsi_zscore=-0.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR 0/1:-878.203,0,-1021.79:997:507:480:13810:15818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179404197 . T C 10631.50 . AB=0.460142;ABP=20.4935;AC=1;AF=0.5;AN=2;AO=583;CIGAR=1X;DP=1267;DPB=1267;DPRA=0;EPP=3.10342;EPPR=3.06326;GTI=0;LEN=1;MEANALT=3;MQM=38.4288;MQMR=38.2561;NS=1;NUMALT=1;ODDS=2447.98;PAIRED=0.965695;PAIREDR=0.980183;PAO=0;PQA=0;PQR=0;PRO=0;QA=17317;QR=19170;RO=656;RPL=325;RPP=19.7303;RPPR=73.5699;RPR=258;RUN=1;SAF=185;SAP=171.994;SAR=398;SF=0;SRF=195;SRP=237.225;SRR=461;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A71400G:p.E23800E,TTN:NM_133432:exon181:c.A71775G:p.E23925E,TTN:NM_133437:exon181:c.A71976G:p.E23992E,TTN:NM_133378:exon301:c.A90891G:p.E30297E,TTN:NM_001256850:exon302:c.A93672G:p.E31224E,TTN:NM_001267550:exon352:c.A98595G:p.E32865E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0166;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0166;1000g2015aug_all=0.00399361;avsnp147=rs55977045;Kaviar_AF=0.012102;Kaviar_AC=1871;Kaviar_AN=154602;ExAC_ALL=0.0116;ExAC_AFR=0.0031;ExAC_AMR=0.0066;ExAC_EAS=0.0001;ExAC_FIN=0.0113;ExAC_NFE=0.0177;ExAC_OTH=0.0067;ExAC_SAS=0.0021;CLNALLELEID=56768;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0085;dpsi_zscore=0.058;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0113;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0084;gnomAD_exome_ASJ=0.0124;gnomAD_exome_EAS=5.803e-05;gnomAD_exome_FIN=0.0103;gnomAD_exome_NFE=0.0175;gnomAD_exome_OTH=0.0132;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0109;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0097;gnomAD_genome_NFE=0.0163;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1091.11,0,-1227.01:1267:656:583:17317:19170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179404268 . C T 5656.19 . AB=0.453883;ABP=18.2317;AC=1;AF=0.5;AN=2;AO=374;CIGAR=1X;DP=824;DPB=824;DPRA=0;EPP=3.59091;EPPR=8.62724;GTI=0;LEN=1;MEANALT=3;MQM=36.5615;MQMR=36.696;NS=1;NUMALT=1;ODDS=1302.39;PAIRED=0.938503;PAIREDR=0.952494;PAO=0;PQA=0;PQR=0;PRO=0;QA=9983;QR=13008;RO=421;RPL=159;RPP=21.2182;RPPR=27.567;RPR=215;RUN=1;SAF=129;SAP=81.1369;SAR=245;SF=0;SRF=159;SRP=57.7304;SRR=262;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.G71329A:p.A23777T,TTN:NM_133432:exon181:c.G71704A:p.A23902T,TTN:NM_133437:exon181:c.G71905A:p.A23969T,TTN:NM_133378:exon301:c.G90820A:p.A30274T,TTN:NM_001256850:exon302:c.G93601A:p.A31201T,TTN:NM_001267550:exon352:c.G98524A:p.A32842T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199647622;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.313e-05;ExAC_AFR=0;ExAC_AMR=8.648e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=189447;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.132;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.405;MutationAssessor_pred=N;FATHMM_score=0.43;FATHMM_pred=T;PROVEAN_score=-2.63;PROVEAN_pred=D;VEST3_score=0.344;CADD_raw=4.138;CADD_phred=23.8;DANN_score=0.976;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.588;MetaSVM_pred=T;MetaLR_score=0.234;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.79;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.975;SiPhy_29way_logOdds=20.041;GDI_full_10282015=.;dpsi_max_tissue=-0.0087;dpsi_zscore=-0.028;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.51e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.696e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-583.727,0,-801.322:824:421:374:9983:13008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179404293 . G A 8932.69 . AB=0.432477;ABP=50.8097;AC=1;AF=0.5;AN=2;AO=522;CIGAR=1X;DP=1207;DPB=1207;DPRA=0;EPP=41.348;EPPR=100.938;GTI=0;LEN=1;MEANALT=3;MQM=37.5249;MQMR=37.9466;NS=1;NUMALT=1;ODDS=2056.83;PAIRED=0.961686;PAIREDR=0.92378;PAO=0;PQA=0;PQR=0;PRO=0;QA=15406;QR=20657;RO=656;RPL=267;RPP=3.60933;RPPR=13.391;RPR=255;RUN=1;SAF=194;SAP=77.7056;SAR=328;SF=0;SRF=236;SRP=115.079;SRR=420;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.C71304T:p.L23768L,TTN:NM_133432:exon181:c.C71679T:p.L23893L,TTN:NM_133437:exon181:c.C71880T:p.L23960L,TTN:NM_133378:exon301:c.C90795T:p.L30265L,TTN:NM_001256850:exon302:c.C93576T:p.L31192L,TTN:NM_001267550:exon352:c.C98499T:p.L32833L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;1000g2015aug_all=0.00599042;avsnp147=rs138968178;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0233;CLNALLELEID=56767;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0143;dpsi_zscore=-0.067;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0220;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-916.036,0,-1347.49:1207:656:522:15406:20657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179404402 . T C 6030.06 . AB=0.465171;ABP=11.9346;AC=2;AF=0.5;AN=4;AO=394;CIGAR=1X;DP=1562;DPB=847;DPRA=0;EPP=13.6803;EPPR=51.5409;GTI=0;LEN=1;MEANALT=3;MQM=35.8782;MQMR=36.9952;NS=1;NUMALT=1;ODDS=1530.42;PAIRED=0.918782;PAIREDR=0.952494;PAO=0;PQA=0;PQR=0;PRO=0;QA=11545;QR=12624;RO=421;RPL=121;RPP=130.345;RPPR=83.6024;RPR=273;RUN=1;SAF=216;SAP=10.9687;SAR=178;SF=0;SRF=243;SRP=24.8024;SRR=178;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A71195G:p.N23732S,TTN:NM_133432:exon181:c.A71570G:p.N23857S,TTN:NM_133437:exon181:c.A71771G:p.N23924S,TTN:NM_133378:exon301:c.A90686G:p.N30229S,TTN:NM_001256850:exon302:c.A93467G:p.N31156S,TTN:NM_001267550:exon352:c.A98390G:p.N32797S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0081;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0081;1000g2015aug_all=0.00399361;avsnp147=rs149001703;Kaviar_AF=0.0047412;Kaviar_AC=733;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0006;ExAC_AMR=0.0042;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0067;ExAC_OTH=0.0033;ExAC_SAS=0.0009;CLNALLELEID=56764;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.303;SIFT_pred=T;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.13;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.926;MutationTaster_pred=D;MutationAssessor_score=-1.98;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=-2.23;PROVEAN_pred=N;VEST3_score=0.1;CADD_raw=1.106;CADD_phred=11.25;DANN_score=0.944;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.883;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=-0.0013;dpsi_zscore=0.013;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0044;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=0.0071;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0108;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-687.487,0,-788.037:847:421:394:11545:12624 . . . . . . . . . . . . . . . . . . . . . 0/1:-554.854,0,-629.319:715:351:328:9442:10308 . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179404550 . G A 6081.05 . AB=0.497143;ABP=3.04753;AC=4;AF=0.5;AN=8;AO=261;CIGAR=1X;DP=2773;DPB=525;DPRA=0;EPP=24.6501;EPPR=13.2145;GTI=0;LEN=1;MEANALT=3;MQM=36.1954;MQMR=37.1585;NS=1;NUMALT=1;ODDS=963.897;PAIRED=0.965517;PAIREDR=0.95935;PAO=0;PQA=0;PQR=0;PRO=0;QA=7443;QR=7179;RO=246;RPL=165;RPP=42.621;RPPR=39.1662;RPR=96;RUN=1;SAF=119;SAP=7.41148;SAR=142;SF=0,1;SRF=111;SRP=8.09472;SRR=135;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.C71047T:p.R23683C,TTN:NM_133432:exon181:c.C71422T:p.R23808C,TTN:NM_133437:exon181:c.C71623T:p.R23875C,TTN:NM_133378:exon301:c.C90538T:p.R30180C,TTN:NM_001256850:exon302:c.C93319T:p.R31107C,TTN:NM_001267550:exon352:c.C98242T:p.R32748C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0041;1000g2015aug_all=0.00139776;avsnp147=rs72648272;Kaviar_AF=0.0038615;Kaviar_AC=597;Kaviar_AN=154602;ExAC_ALL=0.0040;ExAC_AFR=0.0003;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0115;ExAC_NFE=0.0052;ExAC_OTH=0.0067;ExAC_SAS=0.0028;CLNALLELEID=56760;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.805;MutationAssessor_pred=M;FATHMM_score=0.63;FATHMM_pred=T;PROVEAN_score=-5.83;PROVEAN_pred=D;VEST3_score=0.522;CADD_raw=3.839;CADD_phred=23.4;DANN_score=0.944;fathmm-MKL_coding_score=0.888;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.395;MetaSVM_pred=T;MetaLR_score=0.319;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.23;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=12.055;GDI_full_10282015=.;dpsi_max_tissue=-0.0100;dpsi_zscore=-0.037;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516721#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0097;gnomAD_exome_NFE=0.0053;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=0.0059;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0108;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:-444.884,0,-431.213:525:246:261:7443:7179 . . . . . . . 0/1:-767.112,0,-823.235:911:445:440:12369:13041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-738.39,0,-722.174:818:390:403:11803:11644 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-503.861,0,-542.635:519:260:248:7720:8174:260,248 . . chr2 179404628 . T A 6424.10 . AB=0.476868;ABP=6.92822;AC=3;AF=0.5;AN=6;AO=402;CIGAR=1X;DP=2246;DPB=843;DPRA=0;EPP=18.7616;EPPR=56.4608;GTI=0;LEN=1;MEANALT=3;MQM=38.9527;MQMR=38.6566;NS=1;NUMALT=1;ODDS=1689.11;PAIRED=0.997512;PAIREDR=0.993039;PAO=0;PQA=0;PQR=0;PRO=0;QA=11701;QR=13587;RO=431;RPL=196;RPP=3.55047;RPPR=41.1446;RPR=206;RUN=1;SAF=266;SAP=94.2986;SAR=136;SF=0;SRF=279;SRP=84.2717;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A70969T:p.I23657F,TTN:NM_133432:exon181:c.A71344T:p.I23782F,TTN:NM_133437:exon181:c.A71545T:p.I23849F,TTN:NM_133378:exon301:c.A90460T:p.I30154F,TTN:NM_001256850:exon302:c.A93241T:p.I31081F,TTN:NM_001267550:exon352:c.A98164T:p.I32722F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0170;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0170;1000g2015aug_all=0.0425319;avsnp147=rs72648270;Kaviar_AF=0.0247927;Kaviar_AC=3833;Kaviar_AN=154602;ExAC_ALL=0.0251;ExAC_AFR=0.0034;ExAC_AMR=0.0248;ExAC_EAS=0.1469;ExAC_FIN=0.0021;ExAC_NFE=0.0177;ExAC_OTH=0.03;ExAC_SAS=0.0134;CLNALLELEID=56759;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.204;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=0.93;FATHMM_pred=T;PROVEAN_score=-2.0;PROVEAN_pred=N;VEST3_score=0.535;CADD_raw=2.893;CADD_phred=21.8;DANN_score=0.833;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.191;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=-0.0022;dpsi_zscore=0.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0263;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0263;gnomAD_exome_ASJ=0.0221;gnomAD_exome_EAS=0.1561;gnomAD_exome_FIN=0.0032;gnomAD_exome_NFE=0.0177;gnomAD_exome_OTH=0.0282;gnomAD_exome_SAS=0.0136;gnomAD_genome_ALL=0.0181;gnomAD_genome_AFR=0.0042;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.1408;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0167;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-752.449,0,-885.365:843:431:402:11701:13587 . . . . . . . . . . . . 0/1:-427.1,0,-447.343:481:240:235:6999:7322 . . . . . . . . 0/1:-818.095,0,-958.926:922:472:444:13099:14947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179404786 . A T 6934.78 . AB=0.441467;ABP=24.1094;AC=34;AF=0.5;AN=62;AO=313;CIGAR=1X;DP=24331;DPB=709;DPRA=0;EPP=97.9793;EPPR=40.8008;GTI=0;LEN=1;MEANALT=3;MQM=37.9201;MQMR=38.382;NS=1;NUMALT=1;ODDS=1059.76;PAIRED=0.980831;PAIREDR=0.981432;PAO=0;PQA=0;PQR=0;PRO=0;QA=8262;QR=10564;RO=377;RPL=109;RPP=65.6222;RPPR=37.1606;RPR=204;RUN=1;SAF=111;SAP=60.4607;SAR=202;SF=0,1;SRF=128;SRP=87.3406;SRR=249;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1442;esp6500siv2_ea=0.1464;esp6500siv2_all=0.1442;esp6500siv2_ea=0.1464;1000g2015aug_all=0.232628;avsnp147=rs2288325;Kaviar_AF=0.176259;Kaviar_AC=27250;Kaviar_AN=154602;ExAC_ALL=0.1831;ExAC_AFR=0.1417;ExAC_AMR=0.1535;ExAC_EAS=0.4354;ExAC_FIN=0.1480;ExAC_NFE=0.1471;ExAC_OTH=0.1782;ExAC_SAS=0.2713;CLNALLELEID=56758;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5325;dpsi_zscore=-1.123;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1817;gnomAD_exome_AFR=0.1436;gnomAD_exome_AMR=0.1502;gnomAD_exome_ASJ=0.1884;gnomAD_exome_EAS=0.4307;gnomAD_exome_FIN=0.1517;gnomAD_exome_NFE=0.1443;gnomAD_exome_OTH=0.1669;gnomAD_exome_SAS=0.2540;gnomAD_genome_ALL=0.1662;gnomAD_genome_AFR=0.1429;gnomAD_genome_AMR=0.1675;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.4425;gnomAD_genome_FIN=0.1463;gnomAD_genome_NFE=0.1551;gnomAD_genome_OTH=0.1776;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-490.94,0,-676.807:709:377:313:8262:10564 . . . 0/1:-566.623,0,-740.337:765:414:335:9265:11616 . . . . . . 1/1:-1114.7,-125.176,0:535:23:504:13617:406 0/1:-455.394,0,-718.115:656:364:273:7846:10718 . . . . . . 0/1:-814.382,0,-942.52:1010:512:477:13098:14670 0/1:-474.907,0,-656.9:675:370:295:7982:10447 . . 0/1:-758.265,0,-1063.21:1058:580:450:12612:16556 . . . . . 0/1:-777.402,0,-817.843:941:462:455:12356:12940 . . . . 0/1:-707.837,0,-728.357:825:403:406:11219:11649 . . . 0/1:-738.781,0,-763.878:850:416:413:11652:12072 0/1:-442.116,0,-526.077:542:284:243:7047:8228 . 0/1:-938.565,0,-966.425:1085:540:527:14786:15420 0/1:-727.59,0,-908.458:938:475:444:11918:14070 . . . 0/1:-455.887,0,-505.534:579:285:282:7454:8096 . 0/1:-691.912,0,-966.399:951:511:420:11472:14821 . . . . 0/1:-939.134,0,-1007.38:1091:548:525:14837:15633 . 0/1:-397.776,0,-485.687:539:274:248:6633:7649 . . . 0/1:-639.286,0,-887.362:867:465:388:10631:13617 . . . . . . . . . 0/1:-757.023,0,-984.148:980:514:445:12334:14854 . . 0/1:-770.528,0,-873.475:964:474:467:12491:13683 0/1:-798.878,0,-976.546:1038:535:483:13039:15449 . . . . . 0/1:-785.435,0,-935.473:995:509:465:12809:14577 . 1/1:-1878.52,-203.533,0:920:33:871:23384:800 . 0/1:-576.974,0,-665.386:731:364:347:9355:10460 . . . . . . 0/1:-750.859,0,-907.745:784:412:369:11472:13143:412,369 . . . . 0/1:-585.523,0,-609.311:582:291:287:8864:9124:291,287 . 1/1:-1332.48,-103.445,0:537:22:514:16156:665:22,514 . 0/1:-433.725,0,-544.484:478:253:222:6770:8037:253,222 . 0/1:-561.382,0,-659.328:601:319:277:8601:9847:319,277 . . . 0/1:-537.638,0,-620.206:558:292:262:8102:9197:292,262 . 0/1:-504.589,0,-607.563:547:293:253:7791:8943:293,253 chr2 179406003 . C A 5623.95 . AB=0.477997;ABP=5.78148;AC=50;AF=0.5;AN=88;AO=315;CIGAR=1X;DP=24094;DPB=659;DPRA=0;EPP=186.165;EPPR=211.163;GTI=0;LEN=1;MEANALT=3;MQM=38.6349;MQMR=38.7899;NS=1;NUMALT=1;ODDS=1215.11;PAIRED=0.987302;PAIREDR=0.982249;PAO=0;PQA=0;PQR=0;PRO=0;QA=8934;QR=9965;RO=338;RPL=122;RPP=37.7608;RPPR=34.4902;RPR=193;RUN=1;SAF=198;SAP=48.239;SAR=117;SF=0,1;SRF=213;SRP=52.7614;SRR=125;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3012;esp6500siv2_ea=0.2102;esp6500siv2_all=0.3012;esp6500siv2_ea=0.2102;1000g2015aug_all=0.504593;avsnp147=rs3731750;Kaviar_AF=0.185942;Kaviar_AC=28747;Kaviar_AN=154602;ExAC_ALL=0.3830;ExAC_AFR=0.5559;ExAC_AMR=0.4481;ExAC_EAS=0.7165;ExAC_FIN=0.2867;ExAC_NFE=0.2610;ExAC_OTH=0.4085;ExAC_SAS=0.6016;CLNALLELEID=56754;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1938;dpsi_zscore=0.711;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3524;gnomAD_exome_AFR=0.5371;gnomAD_exome_AMR=0.4154;gnomAD_exome_ASJ=0.2600;gnomAD_exome_EAS=0.7011;gnomAD_exome_FIN=0.2753;gnomAD_exome_NFE=0.2152;gnomAD_exome_OTH=0.3022;gnomAD_exome_SAS=0.4955;gnomAD_genome_ALL=0.3499;gnomAD_genome_AFR=0.5304;gnomAD_genome_AMR=0.4127;gnomAD_genome_ASJ=0.2433;gnomAD_genome_EAS=0.6936;gnomAD_genome_FIN=0.2679;gnomAD_genome_NFE=0.2295;gnomAD_genome_OTH=0.3014;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-562.659,0,-647.275:659:338:315:8934:9965 . . . . . . 0/1:-423.501,0,-462.134:470:239:224:6557:7137 . . 0/1:-446.123,0,-500.589:513:253:258:7145:7660 0/1:-455.342,0,-457.101:509:247:258:7210:7241 . . . 0/1:-399.564,0,-425.178:464:230:229:6436:6719 . . 1/1:-892.574,-93.8239,0:404:14:386:10927:329 0/1:-262.257,0,-400.36:349:198:146:4278:5967 0/1:-584.602,0,-612.609:624:308:308:8938:9313 . . . . . 0/1:-474.743,0,-484.471:531:256:267:7425:7757 0/1:-365.002,0,-457.139:452:240:206:5935:6887 . . 0/1:-638.8,0,-669.945:703:344:350:9999:10181 0/1:-481.214,0,-513.808:547:270:270:7574:7984 . . . . 0/1:-443.861,0,-549.55:541:286:252:6982:8263 . 0/1:-140.393,0,-233.047:201:114:84:2338:3426 . 1/1:-1130.19,-115.541,0:475:12:456:13642:287 0/1:-533.206,0,-448.542:531:241:286:8235:7105 . . . 0/1:-522.541,0,-446.993:533:239:284:7904:7181 1/1:-610.269,-64.4281,0:270:9:254:7321:184 0/1:-432.216,0,-426.203:461:221:237:6737:6541 0/1:-613.886,0,-670.262:687:344:333:9535:10253 0/1:-655.26,0,-561.701:657:300:353:10005:9003 . . 0/1:-609.564,0,-558.572:622:295:319:9311:8790 0/1:-356.27,0,-389.883:412:210:197:5710:6046 . 0/1:-490.521,0,-639.968:633:331:293:8131:9804 . . . . 0/1:-624.894,0,-719.886:732:370:354:9972:11069 . 0/1:-394.269,0,-443.182:452:226:226:6395:6861 . . 0/1:-286.876,0,-339.251:361:183:173:4777:5343 0/1:-552.485,0,-593.504:625:312:305:8658:9260 . . . . . . . 0/1:-530.397,0,-700.009:662:348:305:8501:10469 . 0/1:-630.536,0,-649.648:687:340:340:9793:10074 . . 0/1:-552.03,0,-607.699:617:298:307:8645:9193 0/1:-592.979,0,-644.474:650:326:316:9238:9827 . . . . . 0/1:-674.726,0,-616.532:674:321:346:10327:9605 . 1/1:-1233.22,-133.707,0:561:22:534:14901:415 . 0/1:-420.452,0,-330.858:417:181:231:6493:5418 . . . . 0/1:-659.148,0,-598.702:607:291:314:9725:9087:291,314 1/1:-1742.36,-167.568,0:686:17:666:20951:460:17,666 0/1:-694.185,0,-719.107:670:333:331:10458:10614:333,331 . . . . 0/1:-756.52,0,-790.174:725:361:362:11313:11674:361,362 . 1/1:-1350.41,-131.339,0:533:13:519:16064:325:13,519 . 0/1:-513.183,0,-502.879:477:233:241:7673:7476:233,241 . 0/1:-625.202,0,-644.138:588:293:292:9308:9449:293,292 . . . 0/1:-577.936,0,-600.606:576:286:285:8877:8948:286,285 . 0/1:-596.654,0,-552.658:546:261:283:8786:8236:261,283 chr2 179406044 . C T 6778.02 . AB=0.484553;ABP=4.28494;AC=4;AF=0.5;AN=8;AO=298;CIGAR=1X;DP=3072;DPB=615;DPRA=0;EPP=72.9929;EPPR=77.0945;GTI=0;LEN=1;MEANALT=3;MQM=37.8154;MQMR=38.5217;NS=1;NUMALT=1;ODDS=1173.14;PAIRED=0.959732;PAIREDR=0.963211;PAO=0;PQA=0;PQR=0;PRO=0;QA=8433;QR=8929;RO=299;RPL=141;RPP=4.87573;RPPR=6.21304;RPR=157;RUN=1;SAF=169;SAP=14.6692;SAR=129;SF=0,1;SRF=152;SRP=3.19186;SRR=147;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon178:c.G70565A:p.R23522H,TTN:NM_133432:exon179:c.G70940A:p.R23647H,TTN:NM_133437:exon179:c.G71141A:p.R23714H,TTN:NM_133378:exon299:c.G90056A:p.R30019H,TTN:NM_001256850:exon300:c.G92837A:p.R30946H,TTN:NM_001267550:exon350:c.G97760A:p.R32587H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0038;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0038;1000g2015aug_all=0.00159744;avsnp147=rs55704830;Kaviar_AF=0.0017141;Kaviar_AC=265;Kaviar_AN=154602;ExAC_ALL=0.0037;ExAC_AFR=0.0054;ExAC_AMR=0.005;ExAC_EAS=0;ExAC_FIN=0.0016;ExAC_NFE=0.0056;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=56752;CLNDN=Hypertrophic_cardiomyopathy|Inborn_genetic_diseases|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.7;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.988;MutationTaster_pred=D;MutationAssessor_score=0.93;MutationAssessor_pred=L;FATHMM_score=0.61;FATHMM_pred=T;PROVEAN_score=-2.91;PROVEAN_pred=D;VEST3_score=0.303;CADD_raw=5.197;CADD_phred=25.5;DANN_score=0.972;fathmm-MKL_coding_score=0.901;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.787;MetaSVM_pred=T;MetaLR_score=0.169;MetaLR_pred=T;integrated_fitCons_score=0.490;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.848;GDI_full_10282015=.;dpsi_max_tissue=0.0415;dpsi_zscore=0.258;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0049;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-525.44,0,-572.259:615:299:298:8433:8929 . . . . . . . . . . . . . . . . . . 0/1:-774.894,0,-865.791:891:443:426:12270:13240 . . . . . . . . . . . . . . . . . . 0/1:-726.643,0,-671.214:784:363:396:11276:10674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-785.785,0,-809.858:782:381:383:11800:11953:381,383 . . . . . . chr2 179406191 . C T 10823.62 . AB=0.444688;ABP=27.2723;AC=34;AF=0.5;AN=62;AO=406;CIGAR=1X;DP=33626;DPB=913;DPRA=0;EPP=3.20284;EPPR=6.24753;GTI=0;LEN=1;MEANALT=3;MQM=38.436;MQMR=38.7198;NS=1;NUMALT=1;ODDS=1614.87;PAIRED=0.923645;PAIREDR=0.916155;PAO=0;PQA=0;PQR=0;PRO=0;QA=11606;QR=15058;RO=489;RPL=215;RPP=6.09101;RPPR=27.9889;RPR=191;RUN=1;SAF=199;SAP=3.3526;SAR=207;SF=0,1;SRF=228;SRP=7.84616;SRR=261;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon178:c.G70418A:p.R23473H,TTN:NM_133432:exon179:c.G70793A:p.R23598H,TTN:NM_133437:exon179:c.G70994A:p.R23665H,TTN:NM_133378:exon299:c.G89909A:p.R29970H,TTN:NM_001256850:exon300:c.G92690A:p.R30897H,TTN:NM_001267550:exon350:c.G97613A:p.R32538H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1221;esp6500siv2_ea=0.1453;esp6500siv2_all=0.1221;esp6500siv2_ea=0.1453;1000g2015aug_all=0.209265;avsnp147=rs3731749;Kaviar_AF=0.170593;Kaviar_AC=26374;Kaviar_AN=154602;ExAC_ALL=0.1778;ExAC_AFR=0.0696;ExAC_AMR=0.1523;ExAC_EAS=0.4340;ExAC_FIN=0.1482;ExAC_NFE=0.1472;ExAC_OTH=0.1735;ExAC_SAS=0.2623;CLNALLELEID=56750;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.165;MutationAssessor_pred=M;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-3.65;PROVEAN_pred=D;VEST3_score=0.427;CADD_raw=5.326;CADD_phred=25.8;DANN_score=0.986;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.960;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.871;GDI_full_10282015=.;dpsi_max_tissue=-0.0118;dpsi_zscore=-0.050;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1752;gnomAD_exome_AFR=0.0704;gnomAD_exome_AMR=0.1457;gnomAD_exome_ASJ=0.1692;gnomAD_exome_EAS=0.4293;gnomAD_exome_FIN=0.1514;gnomAD_exome_NFE=0.1439;gnomAD_exome_OTH=0.1600;gnomAD_exome_SAS=0.2528;gnomAD_genome_ALL=0.1455;gnomAD_genome_AFR=0.0741;gnomAD_genome_AMR=0.1623;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.4365;gnomAD_genome_FIN=0.1464;gnomAD_genome_NFE=0.1545;gnomAD_genome_OTH=0.1673;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-711.143,0,-994.043:913:489:406:11606:15058 . . . 0/1:-847.913,0,-869.237:932:448:466:13356:13599 . . . . . . 1/1:-1802.04,-221.359,0:772:3:753:21513:78 0/1:-717.701,0,-680.969:762:356:387:11076:10633 . . . . . . 0/1:-1117.36,0,-999.057:1117:513:576:17094:15788 0/1:-742.355,0,-734.644:853:393:427:12134:11678 . . 0/1:-1044.56,0,-1321.3:1243:646:569:16563:20119 . . . . . 0/1:-924.82,0,-1243.09:1137:595:520:14805:18542 . . . . 0/1:-868.798,0,-1030.24:985:505:458:13494:15468 . . . 0/1:-897.867,0,-1141.9:1078:560:491:14330:17367 0/1:-495.555,0,-518.035:540:259:269:7745:7921 . 0/1:-1107.23,0,-1273.41:1299:649:610:17857:19767 0/1:-989.879,0,-1180.74:1178:608:545:15807:17961 . . . 0/1:-611.227,0,-790.186:809:411:357:10278:12259 . 0/1:-1097.95,0,-1112.23:1189:571:583:17030:17521 . . . . 0/1:-1095.47,0,-1457.4:1376:717:630:17894:22035 . 0/1:-765.198,0,-733.295:830:396:410:12009:11708 . . . 0/1:-851.434,0,-1079.2:1038:549:466:13868:16472 . . . . . . . . . 0/1:-1165.57,0,-1366.55:1335:681:625:18453:20864 . . 0/1:-1013.63,0,-1100.73:1117:550:543:15918:16766 0/1:-1064.18,0,-1266.6:1242:635:578:16889:19247 . . . . . 0/1:-997.516,0,-1194.29:1190:605:552:15937:18631 . 1/1:-2201.42,-227.533,0:981:24:922:26851:668 . 0/1:-878.592,0,-918.446:997:475:496:14093:14542 . . . . . . 0/1:-1348.23,0,-1665.62:1444:752:672:20797:24065:752,672 . . . . 0/1:-1319.61,0,-1415.77:1300:656:628:20000:20785:656,628 . 1/1:-3276.32,-326.186,0:1277:20:1246:38666:622:20,1246 . 0/1:-1098.26,0,-1106.96:1069:531:532:16414:16541:531,532 . 0/1:-1252.08,0,-1408.76:1272:660:600:18936:20640:660,600 . . . 0/1:-1153.25,0,-1201.85:1139:568:558:17448:17874:568,558 . 0/1:-1377.87,0,-1142.79:1212:556:648:20261:17346:556,648 chr2 179407097 . G A 13082.80 . AB=0.507001;ABP=3.58797;AC=1;AF=0.5;AN=2;AO=688;CIGAR=1X;DP=1357;DPB=1357;DPRA=0;EPP=147.552;EPPR=85.1672;GTI=0;LEN=1;MEANALT=3;MQM=38.4026;MQMR=38.9748;NS=1;NUMALT=1;ODDS=2678.59;PAIRED=0.954942;PAIREDR=0.927559;PAO=0;PQA=0;PQR=0;PRO=0;QA=20611;QR=18595;RO=635;RPL=342;RPP=3.0608;RPPR=14.9141;RPR=346;RUN=1;SAF=417;SAP=70.2881;SAR=271;SF=0;SRF=360;SRP=27.7172;SRR=275;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon177:c.C70191T:p.T23397T,TTN:NM_133432:exon178:c.C70566T:p.T23522T,TTN:NM_133437:exon178:c.C70767T:p.T23589T,TTN:NM_133378:exon298:c.C89682T:p.T29894T,TTN:NM_001256850:exon299:c.C92463T:p.T30821T,TTN:NM_001267550:exon349:c.C97386T:p.T32462T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs376810671;Kaviar_AF=0.0004398;Kaviar_AC=68;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0001;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=102214;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1547;dpsi_zscore=-0.592;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1338.4,0,-1183.87:1357:635:688:20611:18595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179407482 . G A 5166.46 . AB=0.466055;ABP=8.46488;AC=1;AF=0.5;AN=2;AO=254;CIGAR=1X;DP=545;DPB=545;DPRA=0;EPP=3.31807;EPPR=4.48811;GTI=0;LEN=1;MEANALT=2;MQM=39.2402;MQMR=39.5486;NS=1;NUMALT=1;ODDS=1189.62;PAIRED=0.866142;PAIREDR=0.909722;PAO=0;PQA=0;PQR=0;PRO=0;QA=8213;QR=9045;RO=288;RPL=92;RPP=44.9009;RPPR=84.5612;RPR=162;RUN=1;SAF=152;SAP=24.3831;SAR=102;SF=1;SRF=161;SRP=11.7263;SRR=127;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon176:c.C69904T:p.R23302C,TTN:NM_133432:exon177:c.C70279T:p.R23427C,TTN:NM_133437:exon177:c.C70480T:p.R23494C,TTN:NM_133378:exon297:c.C89395T:p.R29799C,TTN:NM_001256850:exon298:c.C92176T:p.R30726C,TTN:NM_001267550:exon348:c.C97099T:p.R32367C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs202064385;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0.0006;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0014;CLNALLELEID=56743;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.67;MutationAssessor_pred=M;FATHMM_score=-0.33;FATHMM_pred=T;PROVEAN_score=-5.2;PROVEAN_pred=D;VEST3_score=0.546;CADD_raw=4.515;CADD_phred=24.3;DANN_score=0.957;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=0.139;MetaSVM_pred=D;MetaLR_score=0.543;MetaLR_pred=D;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.773;GDI_full_10282015=.;dpsi_max_tissue=-0.0558;dpsi_zscore=-0.291;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-530.031,0,-605.359:545:288:254:8213:9045:288,254 . chr2 179407561 . C G 10243.90 . AB=0.479879;ABP=7.64179;AC=1;AF=0.5;AN=2;AO=632;CIGAR=1X;DP=1317;DPB=1317;DPRA=0;EPP=3.35389;EPPR=29.2624;GTI=0;LEN=1;MEANALT=3;MQM=35.3054;MQMR=37.2493;NS=1;NUMALT=1;ODDS=2358.74;PAIRED=0.908228;PAIREDR=0.941791;PAO=0;PQA=0;PQR=0;PRO=0;QA=18016;QR=20868;RO=670;RPL=347;RPP=16.2178;RPPR=79.8739;RPR=285;RUN=1;SAF=332;SAP=6.52863;SAR=300;SF=0;SRF=286;SRP=34.1369;SRR=384;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon176:c.G69825C:p.W23275C,TTN:NM_133432:exon177:c.G70200C:p.W23400C,TTN:NM_133437:exon177:c.G70401C:p.W23467C,TTN:NM_133378:exon297:c.G89316C:p.W29772C,TTN:NM_001256850:exon298:c.G92097C:p.W30699C,TTN:NM_001267550:exon348:c.G97020C:p.W32340C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.63;MutationAssessor_pred=H;FATHMM_score=-3.97;FATHMM_pred=D;PROVEAN_score=-9.64;PROVEAN_pred=D;VEST3_score=0.698;CADD_raw=3.495;CADD_phred=23.1;DANN_score=0.959;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=1.092;MetaSVM_pred=D;MetaLR_score=0.960;MetaLR_pred=D;integrated_fitCons_score=0.730;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.773;GDI_full_10282015=.;dpsi_max_tissue=-0.0702;dpsi_zscore=-0.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1034.49,0,-1311.43:1317:670:632:18016:20868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179408713 . A G 5648.06 . AB=0.477477;ABP=5.94472;AC=9;AF=0.5;AN=16;AO=318;CIGAR=1X;DP=4307;DPB=666;DPRA=0;EPP=7.62639;EPPR=18.2998;GTI=0;LEN=1;MEANALT=3;MQM=37.6289;MQMR=37.6979;NS=1;NUMALT=1;ODDS=1346.65;PAIRED=0.937107;PAIREDR=0.909091;PAO=0;PQA=0;PQR=0;PRO=0;QA=9821;QR=10184;RO=341;RPL=87;RPP=144.607;RPPR=172.2;RPR=231;RUN=1;SAF=173;SAP=8.36387;SAR=145;SF=0,1;SRF=190;SRP=12.696;SRR=151;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon174:c.T68963C:p.I22988T,TTN:NM_133432:exon175:c.T69338C:p.I23113T,TTN:NM_133437:exon175:c.T69539C:p.I23180T,TTN:NM_133378:exon295:c.T88454C:p.I29485T,TTN:NM_001256850:exon296:c.T91235C:p.I30412T,TTN:NM_001267550:exon346:c.T96158C:p.I32053T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0714;esp6500siv2_ea=0.0322;esp6500siv2_all=0.0714;esp6500siv2_ea=0.0322;1000g2015aug_all=0.115815;avsnp147=rs62621236;Kaviar_AF=0.0767002;Kaviar_AC=11858;Kaviar_AN=154602;ExAC_ALL=0.0808;ExAC_AFR=0.1452;ExAC_AMR=0.2031;ExAC_EAS=0.0255;ExAC_FIN=0.0590;ExAC_NFE=0.0343;ExAC_OTH=0.0756;ExAC_SAS=0.1830;CLNALLELEID=56730;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.607;SIFT_pred=T;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.193;MutationTaster_pred=P;MutationAssessor_score=-0.315;MutationAssessor_pred=N;FATHMM_score=-0.18;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_pred=D;VEST3_score=0.337;CADD_raw=2.368;CADD_phred=18.61;DANN_score=0.886;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.074;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.996;GDI_full_10282015=.;dpsi_max_tissue=-0.0426;dpsi_zscore=-0.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0854;gnomAD_exome_AFR=0.1458;gnomAD_exome_AMR=0.2034;gnomAD_exome_ASJ=0.0306;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0347;gnomAD_exome_OTH=0.0700;gnomAD_exome_SAS=0.1827;gnomAD_genome_ALL=0.0692;gnomAD_genome_AFR=0.1423;gnomAD_genome_AMR=0.1766;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0287;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0300;gnomAD_genome_OTH=0.0652;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-608.208,0,-637.732:666:341:318:9821:10184 . . . . 0/1:-346.596,0,-473.96:487:267:207:6040:7641 . . . . . . . . . . . . . . . . . . . . . . 0/1:-211.174,0,-250.793:255:129:124:3566:3922 . 1/1:-1425.26,-164.949,0:601:5:588:17758:154 . . . . . 0/1:-372.689,0,-464.965:436:228:198:5967:7054 0/1:-475.541,0,-574.679:573:305:259:7951:9133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-706.95,0,-694.037:664:322:332:10562:10252:322,332 0/1:-575.678,0,-764.728:625:343:278:8818:10947:343,278 . . . . . . . . . . . . . . . . . . chr2 179408912 . C T 5392.03 . AB=0.434783;ABP=29.3512;AC=1;AF=0.5;AN=2;AO=310;CIGAR=1X;DP=713;DPB=713;DPRA=0;EPP=15.3667;EPPR=43.3318;GTI=0;LEN=1;MEANALT=3;MQM=39.4903;MQMR=39.9084;NS=1;NUMALT=1;ODDS=1241.56;PAIRED=0.993548;PAIREDR=0.991914;PAO=0;PQA=0;PQR=0;PRO=0;QA=8773;QR=10780;RO=371;RPL=184;RPP=26.5743;RPPR=26.241;RPR=126;RUN=1;SAF=152;SAP=3.26247;SAR=158;SF=0;SRF=201;SRP=8.63506;SRR=170;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756825006;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.373e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.508e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3277;dpsi_zscore=-0.893;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.23e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.723e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-551.56,0,-731.121:713:371:310:8773:10780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179410282 . A G 9007.99 . AB=0.425304;ABP=70.8102;AC=2;AF=0.5;AN=4;AO=595;CIGAR=1X;DP=2090;DPB=1399;DPRA=0;EPP=8.56124;EPPR=11.1701;GTI=0;LEN=1;MEANALT=3;MQM=37.0605;MQMR=38.9433;NS=1;NUMALT=1;ODDS=2195.48;PAIRED=0.954622;PAIREDR=0.935567;PAO=0;PQA=0;PQR=0;PRO=0;QA=16864;QR=23608;RO=776;RPL=214;RPP=104.792;RPPR=74.6465;RPR=381;RUN=1;SAF=352;SAP=46.3704;SAR=243;SF=0,1;SRF=439;SRP=32.1237;SRR=337;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon172:c.T68360C:p.L22787P,TTN:NM_133432:exon173:c.T68735C:p.L22912P,TTN:NM_133437:exon173:c.T68936C:p.L22979P,TTN:NM_133378:exon293:c.T87851C:p.L29284P,TTN:NM_001256850:exon294:c.T90632C:p.L30211P,TTN:NM_001267550:exon344:c.T95555C:p.L31852P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0118;esp6500siv2_ea=0.0159;esp6500siv2_all=0.0118;esp6500siv2_ea=0.0159;1000g2015aug_all=0.00559105;avsnp147=rs62621206;Kaviar_AF=0.0104979;Kaviar_AC=1623;Kaviar_AN=154602;ExAC_ALL=0.0103;ExAC_AFR=0.0029;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0074;ExAC_NFE=0.0158;ExAC_OTH=0.0156;ExAC_SAS=0.0028;CLNALLELEID=56723;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.166;SIFT_pred=T;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.522;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.345;MutationAssessor_pred=L;FATHMM_score=0.47;FATHMM_pred=T;PROVEAN_score=-4.12;PROVEAN_pred=D;VEST3_score=0.517;CADD_raw=2.442;CADD_phred=19.09;DANN_score=0.963;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.931;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_pred=T;integrated_fitCons_score=0.461;integrated_confidence_value=0;GERP++_RS=4.66;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=11.993;GDI_full_10282015=.;dpsi_max_tissue=-0.0280;dpsi_zscore=-0.153;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0109;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0.0088;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0125;gnomAD_exome_NFE=0.0174;gnomAD_exome_OTH=0.0148;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0104;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0097;gnomAD_genome_NFE=0.0150;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-982.012,0,-1574.25:1399:776:595:16864:23608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-667.078,0,-688.81:691:340:339:10195:10552:340,339 . . . . . . . . . . . . . . . . chr2 179410666 . G A 12026.30 . AB=0.457751;ABP=26.3128;AC=1;AF=0.5;AN=2;AO=688;CIGAR=1X;DP=1503;DPB=1503;DPRA=0;EPP=25.2805;EPPR=93.4418;GTI=0;LEN=1;MEANALT=3;MQM=36.8125;MQMR=38.527;NS=1;NUMALT=1;ODDS=2769.15;PAIRED=0.917151;PAIREDR=0.938303;PAO=0;PQA=0;PQR=0;PRO=0;QA=20247;QR=23911;RO=778;RPL=310;RPP=17.6046;RPPR=29.816;RPR=378;RUN=1;SAF=372;SAP=12.9082;SAR=316;SF=0;SRF=399;SRP=4.12674;SRR=379;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C68102T:p.S22701F,TTN:NM_133432:exon172:c.C68477T:p.S22826F,TTN:NM_133437:exon172:c.C68678T:p.S22893F,TTN:NM_133378:exon292:c.C87593T:p.S29198F,TTN:NM_001256850:exon293:c.C90374T:p.S30125F,TTN:NM_001267550:exon343:c.C95297T:p.S31766F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs191484894;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0233;CLNALLELEID=56719;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.49;MutationAssessor_pred=M;FATHMM_score=0.2;FATHMM_pred=T;PROVEAN_score=-4.0;PROVEAN_pred=D;VEST3_score=0.545;CADD_raw=2.870;CADD_phred=21.7;DANN_score=0.973;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.126;MetaSVM_pred=T;MetaLR_score=0.442;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=5.82;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.846;phastCons20way_mammalian=0.896;SiPhy_29way_logOdds=20.109;GDI_full_10282015=.;dpsi_max_tissue=-0.1520;dpsi_zscore=-0.586;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM160556#"Hereditary_myopathy_with_early_respiratory_failure";gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.807e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0219;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1216.74,0,-1560.33:1503:778:688:20247:23911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179410815 . G A 6580.94 . AB=0.447881;ABP=23.6082;AC=1;AF=0.5;AN=2;AO=391;CIGAR=1X;DP=873;DPB=873;DPRA=0;EPP=3.46014;EPPR=3.48442;GTI=0;LEN=1;MEANALT=3;MQM=37.1688;MQMR=39.2118;NS=1;NUMALT=1;ODDS=1515.32;PAIRED=0.982097;PAIREDR=0.973799;PAO=0;PQA=0;PQR=0;PRO=0;QA=11197;QR=13566;RO=458;RPL=253;RPP=76.4572;RPPR=60.3789;RPR=138;RUN=1;SAF=187;SAP=4.6153;SAR=204;SF=0;SRF=192;SRP=28.9731;SRR=266;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C67953T:p.T22651T,TTN:NM_133432:exon172:c.C68328T:p.T22776T,TTN:NM_133437:exon172:c.C68529T:p.T22843T,TTN:NM_133378:exon292:c.C87444T:p.T29148T,TTN:NM_001256850:exon293:c.C90225T:p.T30075T,TTN:NM_001267550:exon343:c.C95148T:p.T31716T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs140663434;Kaviar_AF=0.0035575;Kaviar_AC=550;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0244;CLNALLELEID=56714;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1049;dpsi_zscore=-0.464;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=5.817e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0213;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-674.628,0,-895.982:873:458:391:11197:13566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179411011 . T C 8569.89 . AB=0.446963;ABP=29.9598;AC=1;AF=0.5;AN=2;AO=493;CIGAR=1X;DP=1103;DPB=1103;DPRA=0;EPP=3.12042;EPPR=8.97998;GTI=0;LEN=1;MEANALT=3;MQM=38.7972;MQMR=38.7938;NS=1;NUMALT=1;ODDS=1973.29;PAIRED=0.973631;PAIREDR=0.962199;PAO=0;PQA=0;PQR=0;PRO=0;QA=14076;QR=18414;RO=582;RPL=234;RPP=5.76318;RPPR=13.89;RPR=259;RUN=1;SAF=253;SAP=3.75468;SAR=240;SF=0;SRF=299;SRP=3.96545;SRR=283;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.A67852G:p.S22618G,TTN:NM_133432:exon171:c.A68227G:p.S22743G,TTN:NM_133437:exon171:c.A68428G:p.S22810G,TTN:NM_133378:exon291:c.A87343G:p.S29115G,TTN:NM_001256850:exon292:c.A90124G:p.S30042G,TTN:NM_001267550:exon342:c.A95047G:p.S31683G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0156;esp6500siv2_ea=0.0205;esp6500siv2_all=0.0156;esp6500siv2_ea=0.0205;1000g2015aug_all=0.0223642;avsnp147=rs72648257;Kaviar_AF=0.0243658;Kaviar_AC=3767;Kaviar_AN=154602;ExAC_ALL=0.0262;ExAC_AFR=0.0037;ExAC_AMR=0.0359;ExAC_EAS=0.0646;ExAC_FIN=0.0525;ExAC_NFE=0.0251;ExAC_OTH=0.0233;ExAC_SAS=0.0068;CLNALLELEID=56711;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.245;SIFT_pred=T;Polyphen2_HDIV_score=0.98;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.63;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.507;MutationTaster_pred=D;MutationAssessor_score=1.75;MutationAssessor_pred=L;FATHMM_score=-0.38;FATHMM_pred=T;PROVEAN_score=-2.78;PROVEAN_pred=D;VEST3_score=0.145;CADD_raw=1.667;CADD_phred=14.22;DANN_score=0.918;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.637;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=9.834;GDI_full_10282015=.;dpsi_max_tissue=0.2502;dpsi_zscore=0.813;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0263;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0346;gnomAD_exome_ASJ=0.0144;gnomAD_exome_EAS=0.0619;gnomAD_exome_FIN=0.0486;gnomAD_exome_NFE=0.0233;gnomAD_exome_OTH=0.0256;gnomAD_exome_SAS=0.0062;gnomAD_genome_ALL=0.0238;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0567;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0236;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-866.897,0,-1217.54:1103:582:493:14076:18414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179411195 . G A 6103.47 . AB=0.459119;ABP=14.5505;AC=1;AF=0.5;AN=2;AO=365;CIGAR=1X;DP=795;DPB=795;DPRA=0;EPP=15.0575;EPPR=58.6556;GTI=0;LEN=1;MEANALT=3;MQM=36.0219;MQMR=37.9828;NS=1;NUMALT=1;ODDS=1405.37;PAIRED=0.978082;PAIREDR=0.985222;PAO=0;PQA=0;PQR=0;PRO=0;QA=10427;QR=12291;RO=406;RPL=212;RPP=23.7196;RPPR=3.20284;RPR=153;RUN=1;SAF=199;SAP=9.48902;SAR=166;SF=0;SRF=256;SRP=63.1055;SRR=150;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.C67668T:p.H22556H,TTN:NM_133432:exon171:c.C68043T:p.H22681H,TTN:NM_133437:exon171:c.C68244T:p.H22748H,TTN:NM_133378:exon291:c.C87159T:p.H29053H,TTN:NM_001256850:exon292:c.C89940T:p.H29980H,TTN:NM_001267550:exon342:c.C94863T:p.H31621H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs373871146;Kaviar_AF=0.0004916;Kaviar_AC=76;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0001;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0023;ExAC_SAS=0.0004;CLNALLELEID=172647;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0850;dpsi_zscore=-0.402;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.561e-05;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-622.426,0,-792.72:795:406:365:10427:12291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179411207 . A T 4786.02 . AB=0.467305;ABP=8.83206;AC=2;AF=0.5;AN=4;AO=293;CIGAR=1X;DP=1257;DPB=627;DPRA=0;EPP=32.4252;EPPR=20.8273;GTI=0;LEN=1;MEANALT=3;MQM=38.57;MQMR=38.5016;NS=1;NUMALT=1;ODDS=1190.49;PAIRED=0.959044;PAIREDR=0.996845;PAO=0;PQA=0;PQR=0;PRO=0;QA=8471;QR=9512;RO=317;RPL=140;RPP=4.26279;RPPR=16.8817;RPR=153;RUN=1;SAF=186;SAP=49.2634;SAR=107;SF=0;SRF=190;SRP=30.1982;SRR=127;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.T67656A:p.D22552E,TTN:NM_133432:exon171:c.T68031A:p.D22677E,TTN:NM_133437:exon171:c.T68232A:p.D22744E,TTN:NM_133378:exon291:c.T87147A:p.D29049E,TTN:NM_001256850:exon292:c.T89928A:p.D29976E,TTN:NM_001267550:exon342:c.T94851A:p.D31617E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0035;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0035;1000g2015aug_all=0.00179712;avsnp147=rs72648256;Kaviar_AF=0.0029236;Kaviar_AC=452;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0007;ExAC_AMR=0.0056;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0038;ExAC_OTH=0.0023;ExAC_SAS=0.0014;CLNALLELEID=56709;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.077;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.23;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-2.75;PROVEAN_pred=D;VEST3_score=0.248;CADD_raw=2.403;CADD_phred=18.84;DANN_score=0.935;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.082;MetaSVM_pred=T;MetaLR_score=0.475;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=4.88;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.145;GDI_full_10282015=.;dpsi_max_tissue=0.0631;dpsi_zscore=0.354;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0029;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0104;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0059;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0020;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-532.462,0,-613.09:627:317:293:8471:9512 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-454.82,0,-622.196:630:336:266:7516:9707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179411212 . G A 5040.60 . AB=0.461538;ABP=10.694;AC=1;AF=0.5;AN=2;AO=276;CIGAR=1X;DP=598;DPB=598;DPRA=0;EPP=22.6794;EPPR=57.2541;GTI=0;LEN=1;MEANALT=3;MQM=37.75;MQMR=38.1386;NS=1;NUMALT=1;ODDS=1160.64;PAIRED=0.971014;PAIREDR=0.983498;PAO=0;PQA=0;PQR=0;PRO=0;QA=8317;QR=9534;RO=303;RPL=123;RPP=10.0912;RPPR=16.2613;RPR=153;RUN=1;SAF=154;SAP=11.0668;SAR=122;SF=0;SRF=179;SRP=24.6892;SRR=124;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.C67651T:p.L22551L,TTN:NM_133432:exon171:c.C68026T:p.L22676L,TTN:NM_133437:exon171:c.C68227T:p.L22743L,TTN:NM_133378:exon291:c.C87142T:p.L29048L,TTN:NM_001256850:exon292:c.C89923T:p.L29975L,TTN:NM_001267550:exon342:c.C94846T:p.L31616L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000399361;avsnp147=rs72648255;Kaviar_AF=0.0011319;Kaviar_AC=175;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0005;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0015;ExAC_OTH=0.0011;ExAC_SAS=0.0009;CLNALLELEID=56708;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0355;dpsi_zscore=0.227;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-515.251,0,-621.746:598:303:276:8317:9534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179411526 . T C 13875.30 . AB=0.483541;ABP=6.227;AC=1;AF=0.5;AN=2;AO=661;CIGAR=1X;DP=1367;DPB=1367;DPRA=0;EPP=96.837;EPPR=80.0241;GTI=0;LEN=1;MEANALT=3;MQM=40.6006;MQMR=40.777;NS=1;NUMALT=1;ODDS=3194.91;PAIRED=0.953101;PAIREDR=0.956835;PAO=0;PQA=0;PQR=0;PRO=0;QA=21069;QR=22637;RO=695;RPL=404;RPP=73.9987;RPPR=56.6285;RPR=257;RUN=1;SAF=287;SAP=27.8755;SAR=374;SF=1;SRF=331;SRP=6.41279;SRR=364;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon169:c.A67434G:p.I22478M,TTN:NM_133432:exon170:c.A67809G:p.I22603M,TTN:NM_133437:exon170:c.A68010G:p.I22670M,TTN:NM_133378:exon290:c.A86925G:p.I28975M,TTN:NM_001256850:exon291:c.A89706G:p.I29902M,TTN:NM_001267550:exon341:c.A94629G:p.I31543M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517759;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=6.657e-05;ExAC_AFR=0;ExAC_AMR=8.693e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.504e-05;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=56706;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.627;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.603;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.991;MutationTaster_pred=D;MutationAssessor_score=2.62;MutationAssessor_pred=M;FATHMM_score=-0.08;FATHMM_pred=T;PROVEAN_score=-2.0;PROVEAN_pred=N;VEST3_score=0.431;CADD_raw=1.237;CADD_phred=11.94;DANN_score=0.898;fathmm-MKL_coding_score=0.768;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.471;MetaSVM_pred=T;MetaLR_score=0.319;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=2.06;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=6.505;GDI_full_10282015=.;dpsi_max_tissue=0.4016;dpsi_zscore=1.024;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.172e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.81e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1414.17,0,-1551.94:1367:695:661:21069:22637:695,661 . chr2 179412772 . T C 9228.87 . AB=0.469043;ABP=11.8836;AC=1;AF=0.5;AN=2;AO=500;CIGAR=1X;DP=1066;DPB=1066;DPRA=0;EPP=44.7199;EPPR=54.9411;GTI=0;LEN=1;MEANALT=3;MQM=37.47;MQMR=38.9837;NS=1;NUMALT=1;ODDS=2125.03;PAIRED=0.982;PAIREDR=0.969259;PAO=0;PQA=0;PQR=0;PRO=0;QA=15064;QR=17571;RO=553;RPL=256;RPP=3.63568;RPPR=6.31267;RPR=244;RUN=1;SAF=287;SAP=26.7923;SAR=213;SF=0;SRF=317;SRP=28.7735;SRR=236;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.A66386G:p.Y22129C,TTN:NM_133432:exon168:c.A66761G:p.Y22254C,TTN:NM_133437:exon168:c.A66962G:p.Y22321C,TTN:NM_133378:exon288:c.A85877G:p.Y28626C,TTN:NM_001256850:exon289:c.A88658G:p.Y29553C,TTN:NM_001267550:exon339:c.A93581G:p.Y31194C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs543223589;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.145e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=391563;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.112;SIFT_pred=T;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.989;MutationTaster_pred=D;MutationAssessor_score=0.78;MutationAssessor_pred=N;FATHMM_score=0.61;FATHMM_pred=T;PROVEAN_score=-5.67;PROVEAN_pred=D;VEST3_score=0.513;CADD_raw=1.276;CADD_phred=12.15;DANN_score=0.919;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.014;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=4.5;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.148;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.948;SiPhy_29way_logOdds=11.484;GDI_full_10282015=.;dpsi_max_tissue=-0.0013;dpsi_zscore=0.013;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.882e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.694e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-938.053,0,-1159.78:1066:553:500:15064:17571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179412966 . G A 8790.61 . AB=0.472155;ABP=8.57305;AC=8;AF=0.5;AN=16;AO=390;CIGAR=1X;DP=7388;DPB=826;DPRA=0;EPP=3.03257;EPPR=13.3567;GTI=0;LEN=1;MEANALT=3;MQM=37.7256;MQMR=36.9294;NS=1;NUMALT=1;ODDS=1623.41;PAIRED=0.971795;PAIREDR=0.967059;PAO=0;PQA=0;PQR=0;PRO=0;QA=11595;QR=13076;RO=425;RPL=201;RPP=3.81207;RPPR=5.26352;RPR=189;RUN=1;SAF=151;SAP=46.1279;SAR=239;SF=0,1;SRF=192;SRP=11.5991;SRR=233;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C66192T:p.S22064S,TTN:NM_133432:exon168:c.C66567T:p.S22189S,TTN:NM_133437:exon168:c.C66768T:p.S22256S,TTN:NM_133378:exon288:c.C85683T:p.S28561S,TTN:NM_001256850:exon289:c.C88464T:p.S29488S,TTN:NM_001267550:exon339:c.C93387T:p.S31129S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0204;esp6500siv2_ea=0.0284;esp6500siv2_all=0.0204;esp6500siv2_ea=0.0284;1000g2015aug_all=0.00898562;avsnp147=rs35445420;Kaviar_AF=0.0213839;Kaviar_AC=3306;Kaviar_AN=154602;ExAC_ALL=0.0213;ExAC_AFR=0.0034;ExAC_AMR=0.0132;ExAC_EAS=0.0002;ExAC_FIN=0.0278;ExAC_NFE=0.0316;ExAC_OTH=0.0256;ExAC_SAS=0.0043;CLNALLELEID=56696;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0004;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0200;gnomAD_exome_AFR=0.0036;gnomAD_exome_AMR=0.0122;gnomAD_exome_ASJ=0.0100;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0285;gnomAD_exome_NFE=0.0312;gnomAD_exome_OTH=0.0212;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0207;gnomAD_genome_AFR=0.0046;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0232;gnomAD_genome_NFE=0.0311;gnomAD_genome_OTH=0.0295;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-717.52,0,-823.474:826:425:390:11595:13076 . . . . . . . . . . . . . . . . . . 0/1:-1044.5,0,-1095.77:1122:543:540:16387:16788 . . . . . . . . . . . . . . . 0/1:-499.47,0,-584.077:570:294:268:8031:9004 . . 0/1:-1050.11,0,-783.199:986:434:530:16219:13013 . . . . . . . . . . 0/1:-1074.04,0,-1133.97:1189:582:582:17199:17837 . . . . . . . . . . . . . . . . . . . 0/1:-1012.95,0,-989.188:1076:513:535:16001:15613 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-751.939,0,-811.773:753:386:358:11382:12005:386,358 . 0/1:-936.064,0,-833.102:866:410:438:13885:12713:410,438 . . . . . . chr2 179413110 . G A 10655.01 . AB=0.472024;ABP=9.6926;AC=34;AF=0.5;AN=62;AO=464;CIGAR=1X;DP=33623;DPB=983;DPRA=0;EPP=55.5936;EPPR=4.29892;GTI=0;LEN=1;MEANALT=3;MQM=38.1078;MQMR=38.2875;NS=1;NUMALT=1;ODDS=1988.51;PAIRED=0.969828;PAIREDR=0.979466;PAO=0;PQA=0;PQR=0;PRO=0;QA=14106;QR=14345;RO=487;RPL=152;RPP=122.816;RPPR=104.677;RPR=312;RUN=1;SAF=283;SAP=51.7;SAR=181;SF=0,1;SRF=276;SRP=21.849;SRR=211;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C66048T:p.A22016A,TTN:NM_133432:exon168:c.C66423T:p.A22141A,TTN:NM_133437:exon168:c.C66624T:p.A22208A,TTN:NM_133378:exon288:c.C85539T:p.A28513A,TTN:NM_001256850:exon289:c.C88320T:p.A29440A,TTN:NM_001267550:exon339:c.C93243T:p.A31081A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1437;esp6500siv2_ea=0.1460;esp6500siv2_all=0.1437;esp6500siv2_ea=0.1460;1000g2015aug_all=0.234225;avsnp147=rs3731748;Kaviar_AF=0.174946;Kaviar_AC=27047;Kaviar_AN=154602;ExAC_ALL=0.1840;ExAC_AFR=0.1414;ExAC_AMR=0.1527;ExAC_EAS=0.4345;ExAC_FIN=0.1479;ExAC_NFE=0.1470;ExAC_OTH=0.1748;ExAC_SAS=0.2658;CLNALLELEID=56694;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0030;dpsi_zscore=0.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1829;gnomAD_exome_AFR=0.1429;gnomAD_exome_AMR=0.1494;gnomAD_exome_ASJ=0.1871;gnomAD_exome_EAS=0.4300;gnomAD_exome_FIN=0.1519;gnomAD_exome_NFE=0.1448;gnomAD_exome_OTH=0.1639;gnomAD_exome_SAS=0.2622;gnomAD_genome_ALL=0.1658;gnomAD_genome_AFR=0.1422;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.4423;gnomAD_genome_FIN=0.1465;gnomAD_genome_NFE=0.1548;gnomAD_genome_OTH=0.1762;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-893.997,0,-922.162:983:487:464:14106:14345 . . . 0/1:-930.233,0,-933.357:1017:492:488:14755:14733 . . . . . . 1/1:-1860.47,-225.47,0:802:5:779:22893:123 0/1:-726.78,0,-681.156:797:367:396:11701:11077 . . . . . . 0/1:-1068.58,0,-1302.61:1283:662:583:17094:19991 0/1:-661.269,0,-662.316:784:381:380:10829:11133 . . 0/1:-1122.3,0,-1348.59:1357:700:608:18107:20677 . . . . . 0/1:-886.388,0,-1013.1:1013:510:476:14158:15399 . . . . 0/1:-938.697,0,-1014.6:1066:540:495:14953:15989 . . . 0/1:-1076.75,0,-1226.6:1271:640:593:17665:19073 0/1:-635.296,0,-546.946:657:301:339:9869:9011 . 0/1:-1213.74,0,-1340.96:1428:695:677:19715:20900 0/1:-1161,0,-1086.18:1230:586:607:18090:17326 . . . 0/1:-649.915,0,-680.831:783:371:375:10843:10944 . 0/1:-1027.54,0,-1294.53:1272:663:566:16716:19809 . . . . 0/1:-1278.97,0,-1255.23:1391:664:678:20177:19822 . 0/1:-642.054,0,-664.511:738:358:350:10278:10538 . . . 0/1:-1036.82,0,-989.624:1098:523:534:16287:15574 . . . . . . . . . 0/1:-1083.62,0,-1179.02:1252:619:596:17532:18407 . . 0/1:-1068.73,0,-1182.86:1255:611:600:17329:18474 0/1:-1066.9,0,-1118.31:1215:592:587:17095:17752 . . . . . 0/1:-1005.67,0,-1023.76:1132:553:544:15966:16212 . 1/1:-2392.62,-263.518,0:1041:16:993:29233:466 . 0/1:-855.67,0,-897.773:965:467:457:13807:14051 . . . . . . 0/1:-1349.84,0,-1445.79:1331:678:637:20174:21385:678,637 . . . . 0/1:-1159.8,0,-1219.78:1153:578:560:17400:17966:578,560 . 1/1:-2777.38,-262.19,0:1110:24:1071:33324:776:24,1071 . 0/1:-930.623,0,-949.909:922:458:449:13925:14250:458,449 . 0/1:-1060.37,0,-1132.72:1066:537:509:15975:16760:537,509 . . . 0/1:-1009.88,0,-1052.16:1004:496:490:15110:15774:496,490 . 0/1:-1036.85,0,-1409.17:1207:656:529:16398:20582:656,529 chr2 179413452 . G A 9496.79 . AB=0.437068;ABP=77.6243;AC=7;AF=0.5;AN=14;AO=948;CIGAR=1X;DP=8264;DPB=2169;DPRA=0;EPP=6.3179;EPPR=6.81085;GTI=0;LEN=1;MEANALT=3;MQM=38.327;MQMR=39.0043;NS=1;NUMALT=1;ODDS=3898.95;PAIRED=0.973629;PAIREDR=0.974935;PAO=0;PQA=0;PQR=0;PRO=0;QA=28025;QR=35440;RO=1157;RPL=564;RPP=77.2252;RPPR=52.8753;RPR=384;RUN=1;SAF=407;SAP=44.14;SAR=541;SF=0,1;SRF=512;SRP=36.2092;SRR=645;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C65706T:p.S21902S,TTN:NM_133432:exon168:c.C66081T:p.S22027S,TTN:NM_133437:exon168:c.C66282T:p.S22094S,TTN:NM_133378:exon288:c.C85197T:p.S28399S,TTN:NM_001256850:exon289:c.C87978T:p.S29326S,TTN:NM_001267550:exon339:c.C92901T:p.S30967S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0233;esp6500siv2_ea=0.0315;esp6500siv2_all=0.0233;esp6500siv2_ea=0.0315;1000g2015aug_all=0.0121805;avsnp147=rs11694623;Kaviar_AF=0.0200321;Kaviar_AC=3097;Kaviar_AN=154602;ExAC_ALL=0.0195;ExAC_AFR=0.0053;ExAC_AMR=0.0251;ExAC_EAS=0;ExAC_FIN=0.0045;ExAC_NFE=0.0280;ExAC_OTH=0.0256;ExAC_SAS=0.0053;CLNALLELEID=56693;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0014;dpsi_zscore=0.013;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0194;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0221;gnomAD_exome_ASJ=0.0235;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0051;gnomAD_exome_NFE=0.0294;gnomAD_exome_OTH=0.0314;gnomAD_exome_SAS=0.0053;gnomAD_genome_ALL=0.0150;gnomAD_genome_AFR=0.0049;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0241;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-1718.23,0,-2357.56:2169:1157:948:28025:35440 . . . . . . . 0/1:-592.174,0,-642.28:729:345:348:9868:10561 . 0/1:-999.118,0,-1180.02:1186:598:548:15970:18187 . . . . . . . . . . . . . . . . . . . . . . 0/1:-930.363,0,-1314.15:1228:669:516:15231:19936 . . . . . . . . . . . . . . 0/1:-894.469,0,-1076.72:1069:540:497:14319:16668 . . . . . . . . . . . . . . . . . . . . . 0/1:-921.212,0,-1028.39:1069:527:505:14732:16028 . . . . . . . . . . . . 0/1:-755.059,0,-893.809:814:416:382:11619:13121:416,382 . . . . . . . . . . . . . . . chr2 179413588 . G A 6777.60 . AB=0.446945;ABP=25.8212;AC=1;AF=0.5;AN=2;AO=417;CIGAR=1X;DP=933;DPB=933;DPRA=0;EPP=38.8839;EPPR=33.2311;GTI=0;LEN=1;MEANALT=3;MQM=37.2998;MQMR=38.7556;NS=1;NUMALT=1;ODDS=1560.6;PAIRED=0.952038;PAIREDR=0.971717;PAO=0;PQA=0;PQR=0;PRO=0;QA=11629;QR=14973;RO=495;RPL=267;RPP=74.294;RPPR=29.0197;RPR=150;RUN=1;SAF=246;SAP=32.3017;SAR=171;SF=0;SRF=306;SRP=63.0614;SRR=189;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C65570T:p.A21857V,TTN:NM_133432:exon168:c.C65945T:p.A21982V,TTN:NM_133437:exon168:c.C66146T:p.A22049V,TTN:NM_133378:exon288:c.C85061T:p.A28354V,TTN:NM_001256850:exon289:c.C87842T:p.A29281V,TTN:NM_001267550:exon339:c.C92765T:p.A30922V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756786292;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.488e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=499215;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.091;SIFT_pred=T;Polyphen2_HDIV_score=0.181;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.1;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.685;MutationAssessor_pred=N;FATHMM_score=0.07;FATHMM_pred=T;PROVEAN_score=-2.34;PROVEAN_pred=N;VEST3_score=0.198;CADD_raw=3.064;CADD_phred=22.4;DANN_score=0.976;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.806;MetaSVM_pred=T;MetaLR_score=0.182;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.25;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.201;GDI_full_10282015=.;dpsi_max_tissue=-0.0007;dpsi_zscore=0.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.222e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.695e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-700.76,0,-987.604:933:495:417:11629:14973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179414318 . C T 7564.70 . AB=0.506173;ABP=3.27838;AC=9;AF=0.5;AN=16;AO=410;CIGAR=1X;DP=5100;DPB=810;DPRA=0;EPP=58.1127;EPPR=31.8926;GTI=0;LEN=1;MEANALT=3;MQM=38.7317;MQMR=39.8602;NS=1;NUMALT=1;ODDS=1758.61;PAIRED=0.987805;PAIREDR=0.978892;PAO=0;PQA=0;PQR=0;PRO=0;QA=12293;QR=11862;RO=379;RPL=147;RPP=74.277;RPPR=116.918;RPR=263;RUN=1;SAF=243;SAP=33.6016;SAR=167;SF=0,1;SRF=204;SRP=7.82879;SRR=175;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon166:c.G64936A:p.V21646M,TTN:NM_133432:exon167:c.G65311A:p.V21771M,TTN:NM_133437:exon167:c.G65512A:p.V21838M,TTN:NM_133378:exon287:c.G84427A:p.V28143M,TTN:NM_001256850:exon288:c.G87208A:p.V29070M,TTN:NM_001267550:exon338:c.G92131A:p.V30711M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1027;esp6500siv2_ea=0.0308;esp6500siv2_all=0.1027;esp6500siv2_ea=0.0308;1000g2015aug_all=0.15016;avsnp147=rs747122;Kaviar_AF=0.0856975;Kaviar_AC=13249;Kaviar_AN=154602;ExAC_ALL=0.0906;ExAC_AFR=0.2615;ExAC_AMR=0.2080;ExAC_EAS=0.0256;ExAC_FIN=0.0590;ExAC_NFE=0.0337;ExAC_OTH=0.0791;ExAC_SAS=0.1843;CLNALLELEID=56683;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.119;SIFT_pred=T;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.691;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.003;MutationTaster_pred=P;MutationAssessor_score=2.025;MutationAssessor_pred=M;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-2.08;PROVEAN_pred=N;VEST3_score=0.257;CADD_raw=2.929;CADD_phred=22.0;DANN_score=0.944;fathmm-MKL_coding_score=0.859;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.126;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.858;GDI_full_10282015=.;dpsi_max_tissue=0.1187;dpsi_zscore=0.538;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0930;gnomAD_exome_AFR=0.2594;gnomAD_exome_AMR=0.2071;gnomAD_exome_ASJ=0.0360;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0580;gnomAD_exome_NFE=0.0334;gnomAD_exome_OTH=0.0732;gnomAD_exome_SAS=0.1820;gnomAD_genome_ALL=0.0994;gnomAD_genome_AFR=0.2493;gnomAD_genome_AMR=0.1814;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0288;gnomAD_genome_FIN=0.0532;gnomAD_genome_NFE=0.0294;gnomAD_genome_OTH=0.0692;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-809.022,0,-786.744:810:379:410:12293:11862 . . . . 0/1:-614.517,0,-574.611:636:294:331:9594:9116 . . . . . . . . . . . . . . . . . . . . . . 0/1:-387.28,0,-223.634:322:129:185:5700:3918 . 1/1:-1717.25,-184.921,0:709:10:686:20363:279 . . . . . 0/1:-469.45,0,-527.601:511:260:243:7200:8081 0/1:-673.27,0,-601.909:679:299:355:10163:9312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-732.386,0,-742.997:693:342:344:10840:10941:342,344 0/1:-750.44,0,-811.879:740:367:364:11281:11877:367,364 . . . . . . . . . . . . . . . . . . chr2 179414705 . A T 4707.88 . AB=0.516556;ABP=4.44836;AC=1;AF=0.5;AN=2;AO=312;CIGAR=1X;DP=604;DPB=604;DPRA=0;EPP=49.8083;EPPR=101.697;GTI=0;LEN=1;MEANALT=2;MQM=38.625;MQMR=38.7285;NS=1;NUMALT=1;ODDS=1084.03;PAIRED=0.99359;PAIREDR=0.975945;PAO=0;PQA=0;PQR=0;PRO=0;QA=8112;QR=9062;RO=291;RPL=65;RPP=233.548;RPPR=298.517;RPR=247;RUN=1;SAF=122;SAP=35.1926;SAR=190;SF=0;SRF=100;SRP=64.804;SRR=191;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0196;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0196;1000g2015aug_all=0.0223642;avsnp147=rs56145100;Kaviar_AF=0.0248574;Kaviar_AC=3843;Kaviar_AN=154602;ExAC_ALL=0.0276;ExAC_AFR=0.0037;ExAC_AMR=0.0360;ExAC_EAS=0.0668;ExAC_FIN=0.0528;ExAC_NFE=0.0259;ExAC_OTH=0.0230;ExAC_SAS=0.0083;CLNALLELEID=56679;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5000;dpsi_zscore=-1.091;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0263;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0145;gnomAD_exome_EAS=0.0618;gnomAD_exome_FIN=0.0485;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0261;gnomAD_exome_SAS=0.0058;gnomAD_genome_ALL=0.0238;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0576;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0235;gnomAD_genome_OTH=0.0327;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-510.916,0,-575.231:604:291:312:8112:9062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179414800 . C T 13427.00 . AB=0.485636;ABP=5.63033;AC=1;AF=0.5;AN=2;AO=710;CIGAR=1X;DP=1462;DPB=1462;DPRA=0;EPP=115.756;EPPR=137.069;GTI=0;LEN=1;MEANALT=3;MQM=38.5225;MQMR=39.2912;NS=1;NUMALT=1;ODDS=3091.68;PAIRED=0.912676;PAIREDR=0.928571;PAO=0;PQA=0;PQR=0;PRO=0;QA=22499;QR=22876;RO=728;RPL=105;RPP=767.613;RPPR=778.834;RPR=605;RUN=1;SAF=434;SAP=79.3605;SAR=276;SF=0;SRF=457;SRP=106.203;SRR=271;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon165:c.G64570A:p.A21524T,TTN:NM_133432:exon166:c.G64945A:p.A21649T,TTN:NM_133437:exon166:c.G65146A:p.A21716T,TTN:NM_133378:exon286:c.G84061A:p.A28021T,TTN:NM_001256850:exon287:c.G86842A:p.A28948T,TTN:NM_001267550:exon337:c.G91765A:p.A30589T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs148617456;Kaviar_AF=0.0036675;Kaviar_AC=567;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0233;CLNALLELEID=56678;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.495;MutationAssessor_pred=L;FATHMM_score=-0.5;FATHMM_pred=T;PROVEAN_score=-2.78;PROVEAN_pred=D;VEST3_score=0.42;CADD_raw=3.867;CADD_phred=23.5;DANN_score=0.985;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.069;MetaSVM_pred=T;MetaLR_score=0.488;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=20.298;GDI_full_10282015=.;dpsi_max_tissue=0.0095;dpsi_zscore=0.065;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.803e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0219;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1454.46,0,-1497.05:1462:728:710:22499:22876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179414964 . T A 5013.46 . AB=0.445151;ABP=19.4465;AC=1;AF=0.5;AN=2;AO=280;CIGAR=1X;DP=629;DPB=629;DPRA=0;EPP=4.12706;EPPR=6.96706;GTI=0;LEN=1;MEANALT=3;MQM=39.3786;MQMR=39.8805;NS=1;NUMALT=1;ODDS=1154.39;PAIRED=0.985714;PAIREDR=0.96793;PAO=0;PQA=0;PQR=0;PRO=0;QA=8385;QR=10416;RO=343;RPL=162;RPP=18.0245;RPPR=98.7893;RPR=118;RUN=1;SAF=68;SAP=163.823;SAR=212;SF=0;SRF=71;SRP=258.782;SRR=272;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon165:c.A64406T:p.D21469V,TTN:NM_133432:exon166:c.A64781T:p.D21594V,TTN:NM_133437:exon166:c.A64982T:p.D21661V,TTN:NM_133378:exon286:c.A83897T:p.D27966V,TTN:NM_001256850:exon287:c.A86678T:p.D28893V,TTN:NM_001267550:exon337:c.A91601T:p.D30534V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;1000g2015aug_all=0.000399361;avsnp147=rs182549226;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0029;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=56676;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.033;SIFT_pred=D;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.864;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.765;MutationAssessor_pred=M;FATHMM_score=-0.15;FATHMM_pred=T;PROVEAN_score=-5.21;PROVEAN_pred=D;VEST3_score=0.614;CADD_raw=1.999;CADD_phred=16.21;DANN_score=0.640;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=0.199;MetaSVM_pred=D;MetaLR_score=0.537;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=16.343;GDI_full_10282015=.;dpsi_max_tissue=-0.0624;dpsi_zscore=-0.318;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-528.616,0,-705.72:629:343:280:8385:10416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179415013 . G A 5046.65 . AB=0.461538;ABP=10.694;AC=1;AF=0.5;AN=2;AO=276;CIGAR=1X;DP=598;DPB=598;DPRA=0;EPP=27.6833;EPPR=9.23427;GTI=0;LEN=1;MEANALT=3;MQM=39.7391;MQMR=38.9299;NS=1;NUMALT=1;ODDS=1162.03;PAIRED=0.971014;PAIREDR=0.961783;PAO=0;PQA=0;PQR=0;PRO=0;QA=8325;QR=9780;RO=314;RPL=172;RPP=39.3903;RPPR=116.314;RPR=104;RUN=1;SAF=62;SAP=184.785;SAR=214;SF=0;SRF=49;SRP=325.661;SRR=265;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0015;1000g2015aug_all=0.00599042;avsnp147=rs200847757;Kaviar_AF=0.0036351;Kaviar_AC=562;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0012;ExAC_SAS=0.0257;CLNALLELEID=56674;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1830;dpsi_zscore=-1.571;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=5.964e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0208;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-537.926,0,-646.897:598:314:276:8325:9780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179416556 . A C 8036.17 . AB=0.460449;ABP=14.5188;AC=9;AF=0.5;AN=16;AO=390;CIGAR=1X;DP=6027;DPB=847;DPRA=0;EPP=9.44677;EPPR=30.0935;GTI=0;LEN=1;MEANALT=3;MQM=39.2718;MQMR=39.7805;NS=1;NUMALT=1;ODDS=1576.6;PAIRED=0.966667;PAIREDR=0.968958;PAO=0;PQA=0;PQR=0;PRO=0;QA=11121;QR=14269;RO=451;RPL=230;RPP=30.2929;RPPR=31.5572;RPR=160;RUN=1;SAF=176;SAP=11.0503;SAR=214;SF=0,1;SRF=230;SRP=3.4003;SRR=221;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.T63876G:p.T21292T,TTN:NM_133432:exon164:c.T64251G:p.T21417T,TTN:NM_133437:exon164:c.T64452G:p.T21484T,TTN:NM_133378:exon284:c.T83367G:p.T27789T,TTN:NM_001256850:exon285:c.T86148G:p.T28716T,TTN:NM_001267550:exon335:c.T91071G:p.T30357T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1040;esp6500siv2_ea=0.0328;esp6500siv2_all=0.1040;esp6500siv2_ea=0.0328;1000g2015aug_all=0.152356;avsnp147=rs11897366;Kaviar_AF=0.0863702;Kaviar_AC=13353;Kaviar_AN=154602;ExAC_ALL=0.0915;ExAC_AFR=0.2633;ExAC_AMR=0.2091;ExAC_EAS=0.0257;ExAC_FIN=0.0590;ExAC_NFE=0.0352;ExAC_OTH=0.0811;ExAC_SAS=0.1829;CLNALLELEID=56668;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1594;dpsi_zscore=-0.602;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0941;gnomAD_exome_AFR=0.2615;gnomAD_exome_AMR=0.2090;gnomAD_exome_ASJ=0.0359;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0580;gnomAD_exome_NFE=0.0354;gnomAD_exome_OTH=0.0756;gnomAD_exome_SAS=0.1826;gnomAD_genome_ALL=0.1007;gnomAD_genome_AFR=0.2507;gnomAD_genome_AMR=0.1806;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0284;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0311;gnomAD_genome_OTH=0.0729;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-697.594,0,-967.617:847:451:390:11121:14269 . . . . 0/1:-648.715,0,-840.953:769:403:360:10182:12714 . . . . . . . . . . . . . . . . . . . . . . 0/1:-293.389,0,-346.52:324:164:158:4557:5267 . 1/1:-1745.09,-181.711,0:735:20:711:20713:439 . . . . . 0/1:-431.441,0,-552.865:499:261:237:6740:8202 0/1:-868.322,0,-836.692:872:413:454:13074:12803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-899.476,0,-1031.3:935:486:446:13702:15087:486,446 0/1:-1077.31,0,-1105.87:1046:512:532:16056:16390:512,532 . . . . . . . . . . . . . . . . . . chr2 179416801 . A C 8227.96 . AB=0.452042;ABP=24.0466;AC=1;AF=0.5;AN=2;AO=476;CIGAR=1X;DP=1053;DPB=1053;DPRA=0;EPP=18.3566;EPPR=17.706;GTI=0;LEN=1;MEANALT=3;MQM=39.5714;MQMR=39.0986;NS=1;NUMALT=1;ODDS=1894.56;PAIRED=0.983193;PAIREDR=0.985915;PAO=0;PQA=0;PQR=0;PRO=0;QA=13339;QR=17078;RO=568;RPL=190;RPP=45.0529;RPPR=61.793;RPR=286;RUN=1;SAF=255;SAP=8.28388;SAR=221;SF=0;SRF=283;SRP=3.02559;SRR=285;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.T63631G:p.C21211G,TTN:NM_133432:exon164:c.T64006G:p.C21336G,TTN:NM_133437:exon164:c.T64207G:p.C21403G,TTN:NM_133378:exon284:c.T83122G:p.C27708G,TTN:NM_001256850:exon285:c.T85903G:p.C28635G,TTN:NM_001267550:exon335:c.T90826G:p.C30276G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs150430592;Kaviar_AF=0.0035705;Kaviar_AC=552;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0226;CLNALLELEID=56665;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.028;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.86;MutationAssessor_pred=L;FATHMM_score=0.46;FATHMM_pred=T;PROVEAN_score=-7.16;PROVEAN_pred=D;VEST3_score=0.664;CADD_raw=1.496;CADD_phred=13.29;DANN_score=0.948;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.580;MetaSVM_pred=T;MetaLR_score=0.248;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.075;GDI_full_10282015=.;dpsi_max_tissue=-0.1742;dpsi_zscore=-0.634;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0211;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-838.762,0,-1132.77:1053:568:476:13339:17078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179416846 . TGT TT 4842.73 . AB=0.436906;ABP=28.4934;AC=1;AF=0.5;AN=2;AO=322;CIGAR=1M1D1M;DP=737;DPB=632.333;DPRA=0;EPP=3.25307;EPPR=11.9128;GTI=0;LEN=1;MEANALT=20;MQM=38.7764;MQMR=39.5822;NS=1;NUMALT=1;ODDS=1115.08;PAIRED=0.990683;PAIREDR=0.981132;PAO=1;PQA=27;PQR=54;PRO=2;QA=8137;QR=11342;RO=371;RPL=173;RPP=6.89467;RPPR=13.8325;RPR=149;RUN=1;SAF=147;SAP=8.29736;SAR=175;SF=0;SRF=150;SRP=32.5154;SRR=221;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon163:c.63585delC:p.Y21195X,TTN:NM_133432:exon164:c.63960delC:p.Y21320X,TTN:NM_133437:exon164:c.64161delC:p.Y21387X,TTN:NM_133378:exon284:c.83076delC:p.Y27692X,TTN:NM_001256850:exon285:c.85857delC:p.Y28619X,TTN:NM_001267550:exon335:c.90780delC:p.Y30260X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-493.54,0,-767.127:737:371:322:8137:11342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179417091 . C T 13383.40 . AB=0.49112;ABP=4.01297;AC=1;AF=0.5;AN=2;AO=719;CIGAR=1X;DP=1464;DPB=1464;DPRA=0;EPP=387.923;EPPR=309.274;GTI=0;LEN=1;MEANALT=3;MQM=39.7065;MQMR=40.0593;NS=1;NUMALT=1;ODDS=2907.39;PAIRED=0.994437;PAIREDR=0.984463;PAO=0;PQA=0;PQR=0;PRO=0;QA=21329;QR=20216;RO=708;RPL=428;RPP=59.6951;RPPR=27.8534;RPR=291;RUN=1;SAF=443;SAP=87.2387;SAR=276;SF=0;SRF=451;SRP=118.442;SRR=257;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.G63341A:p.R21114H,TTN:NM_133432:exon164:c.G63716A:p.R21239H,TTN:NM_133437:exon164:c.G63917A:p.R21306H,TTN:NM_133378:exon284:c.G82832A:p.R27611H,TTN:NM_001256850:exon285:c.G85613A:p.R28538H,TTN:NM_001267550:exon335:c.G90536A:p.R30179H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;1000g2015aug_all=0.0061901;avsnp147=rs149567378;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0012;ExAC_SAS=0.0265;CLNALLELEID=56661;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.014;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.38;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_pred=T;PROVEAN_score=-3.4;PROVEAN_pred=D;VEST3_score=0.366;CADD_raw=3.757;CADD_phred=23.3;DANN_score=0.928;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.204;MetaSVM_pred=T;MetaLR_score=0.431;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.906;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=20.324;GDI_full_10282015=.;dpsi_max_tissue=-0.1655;dpsi_zscore=-0.615;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=5.924e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0223;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1400.98,0,-1316.77:1464:708:719:21329:20216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179417633 . C T 8683.91 . AB=0.472441;ABP=9.7128;AC=1;AF=0.5;AN=2;AO=480;CIGAR=1X;DP=1016;DPB=1016;DPRA=0;EPP=25.1774;EPPR=3.2828;GTI=0;LEN=1;MEANALT=3;MQM=38.7854;MQMR=39.5118;NS=1;NUMALT=1;ODDS=1999.54;PAIRED=0.964583;PAIREDR=0.958824;PAO=0;PQA=0;PQR=0;PRO=0;QA=14041;QR=15049;RO=510;RPL=325;RPP=133.751;RPPR=183.694;RPR=155;RUN=1;SAF=240;SAP=3.0103;SAR=240;SF=0;SRF=241;SRP=6.34841;SRR=269;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.G62799A:p.S20933S,TTN:NM_133432:exon164:c.G63174A:p.S21058S,TTN:NM_133437:exon164:c.G63375A:p.S21125S,TTN:NM_133378:exon284:c.G82290A:p.S27430S,TTN:NM_001256850:exon285:c.G85071A:p.S28357S,TTN:NM_001267550:exon335:c.G89994A:p.S29998S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs142891278;Kaviar_AF=0.0037063;Kaviar_AC=573;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0233;CLNALLELEID=56658;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1628;dpsi_zscore=-0.609;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.823e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0219;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-892.054,0,-989.347:1016:510:480:14041:15049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179417756 . AGG AGGG 3145.62 . AB=0.40585;ABP=45.1257;AC=1;AF=0.5;AN=2;AO=222;CIGAR=1M1I2M;DP=547;DPB=633;DPRA=0;EPP=3.1668;EPPR=3.93222;GTI=0;LEN=1;MEANALT=21;MQM=38.6171;MQMR=37.9649;NS=1;NUMALT=1;ODDS=724.306;PAIRED=0.972973;PAIREDR=0.985965;PAO=7;PQA=42.5;PQR=42.5;PRO=7;QA=5534;QR=8627;RO=285;RPL=99;RPP=8.64439;RPPR=14.5991;RPR=123;RUN=1;SAF=100;SAP=7.7445;SAR=122;SF=0;SRF=118;SRP=21.304;SRR=167;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=TTN:NM_003319:exon163:c.62674dupC:p.P20892fs,TTN:NM_133432:exon164:c.63049dupC:p.P21017fs,TTN:NM_133437:exon164:c.63250dupC:p.P21084fs,TTN:NM_133378:exon284:c.82165dupC:p.P27389fs,TTN:NM_001256850:exon285:c.84946dupC:p.P28316fs,TTN:NM_001267550:exon335:c.89869dupC:p.P29957fs;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-324.579,0,-557.714:547:285:222:5534:8627 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179418418 . C T 13298.20 . AB=0.488529;ABP=4.70411;AC=1;AF=0.5;AN=2;AO=724;CIGAR=1X;DP=1482;DPB=1482;DPRA=0;EPP=70.4939;EPPR=40.5295;GTI=0;LEN=1;MEANALT=3;MQM=38.8812;MQMR=38.9931;NS=1;NUMALT=1;ODDS=3062.02;PAIRED=0.977901;PAIREDR=0.936639;PAO=0;PQA=0;PQR=0;PRO=0;QA=21407;QR=22201;RO=726;RPL=503;RPP=241.524;RPPR=230.853;RPR=221;RUN=1;SAF=338;SAP=9.92062;SAR=386;SF=0;SRF=342;SRP=8.28644;SRR=384;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon162:c.G62119A:p.E20707K,TTN:NM_133432:exon163:c.G62494A:p.E20832K,TTN:NM_133437:exon163:c.G62695A:p.E20899K,TTN:NM_133378:exon283:c.G81610A:p.E27204K,TTN:NM_001256850:exon284:c.G84391A:p.E28131K,TTN:NM_001267550:exon334:c.G89314A:p.E29772K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000199681;avsnp147=rs200503016;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0004;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=6.064e-05;CLNALLELEID=189478;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.271;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.126;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.71;MutationAssessor_pred=M;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-2.77;PROVEAN_pred=D;VEST3_score=0.229;CADD_raw=2.754;CADD_phred=21.1;DANN_score=0.907;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.588;MetaSVM_pred=T;MetaLR_score=0.230;MetaLR_pred=T;integrated_fitCons_score=0.372;integrated_confidence_value=0;GERP++_RS=4.71;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.960;phastCons20way_mammalian=0.881;SiPhy_29way_logOdds=16.400;GDI_full_10282015=.;dpsi_max_tissue=-0.1695;dpsi_zscore=-0.624;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1370.02,0,-1441.33:1482:726:724:21407:22201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179418820 . C T 15248.10 . AB=0.509681;ABP=4.31373;AC=1;AF=0.5;AN=2;AO=816;CIGAR=1X;DP=1601;DPB=1601;DPRA=0;EPP=29.6215;EPPR=11.0256;GTI=0;LEN=1;MEANALT=3;MQM=38.9485;MQMR=39.753;NS=1;NUMALT=1;ODDS=3286.47;PAIRED=0.977941;PAIREDR=0.965834;PAO=0;PQA=0;PQR=0;PRO=0;QA=24213;QR=22690;RO=761;RPL=595;RPP=375.237;RPPR=209.489;RPR=221;RUN=1;SAF=313;SAP=99.0767;SAR=503;SF=0;SRF=306;SRP=66.3597;SRR=455;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon161:c.G61823A:p.R20608Q,TTN:NM_133432:exon162:c.G62198A:p.R20733Q,TTN:NM_133437:exon162:c.G62399A:p.R20800Q,TTN:NM_133378:exon282:c.G81314A:p.R27105Q,TTN:NM_001256850:exon283:c.G84095A:p.R28032Q,TTN:NM_001267550:exon333:c.G89018A:p.R29673Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs200639218;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0022;ExAC_SAS=0.0004;CLNALLELEID=173088;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.47;MutationAssessor_pred=M;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-2.82;PROVEAN_pred=D;VEST3_score=0.368;CADD_raw=4.793;CADD_phred=24.7;DANN_score=0.991;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.232;MetaSVM_pred=T;MetaLR_score=0.394;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.61;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.002;GDI_full_10282015=.;dpsi_max_tissue=-0.1331;dpsi_zscore=-0.541;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=9.694e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.664e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-1584.53,0,-1464.27:1601:761:816:24213:22690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179419748 . CTT CT 9257.21 . AB=0.474561;ABP=9.41805;AC=1;AF=0.5;AN=2;AO=541;CIGAR=1M1D1M;DP=1140;DPB=958.333;DPRA=0;EPP=5.93637;EPPR=3.14841;GTI=0;LEN=1;MEANALT=13;MQM=38.8152;MQMR=39.7456;NS=1;NUMALT=1;ODDS=2131.55;PAIRED=0.944547;PAIREDR=0.95583;PAO=0;PQA=0;PQR=0;PRO=0;QA=15009;QR=17825;RO=566;RPL=282;RPP=5.13361;RPPR=15.0416;RPR=259;RUN=1;SAF=242;SAP=16.0512;SAR=299;SF=0;SRF=239;SRP=32.7203;SRR=327;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TTN:NM_003319:exon159:c.61241delA:p.K20414fs,TTN:NM_133432:exon160:c.61616delA:p.K20539fs,TTN:NM_133437:exon160:c.61817delA:p.K20606fs,TTN:NM_133378:exon280:c.80732delA:p.K26911fs,TTN:NM_001256850:exon281:c.83513delA:p.K27838fs,TTN:NM_001267550:exon331:c.88436delA:p.K29479fs;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-935.667,0,-1191.18:1140:566:541:15009:17825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179419792 . G A 8047.11 . AB=0.481675;ABP=4.68154;AC=2;AF=0.5;AN=4;AO=276;CIGAR=1X;DP=1609;DPB=573;DPRA=0;EPP=88.1068;EPPR=88.4439;GTI=0;LEN=1;MEANALT=3;MQM=39.8986;MQMR=39.756;NS=1;NUMALT=1;ODDS=1289.69;PAIRED=0.981884;PAIREDR=0.965636;PAO=0;PQA=0;PQR=0;PRO=0;QA=8718;QR=9453;RO=291;RPL=160;RPP=18.2421;RPPR=7.67412;RPR=116;RUN=1;SAF=156;SAP=13.2068;SAR=120;SF=0;SRF=175;SRP=28.9859;SRR=116;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon159:c.C61199T:p.S20400F,TTN:NM_133432:exon160:c.C61574T:p.S20525F,TTN:NM_133437:exon160:c.C61775T:p.S20592F,TTN:NM_133378:exon280:c.C80690T:p.S26897F,TTN:NM_001256850:exon281:c.C83471T:p.S27824F,TTN:NM_001267550:exon331:c.C88394T:p.S29465F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0045;1000g2015aug_all=0.00179712;avsnp147=rs146181116;Kaviar_AF=0.0028201;Kaviar_AC=436;Kaviar_AN=154602;ExAC_ALL=0.0027;ExAC_AFR=0.0004;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0064;ExAC_NFE=0.0039;ExAC_OTH=0.0022;ExAC_SAS=0.0002;CLNALLELEID=56641;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.69;SIFT_pred=T;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.739;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.77;MutationAssessor_pred=L;FATHMM_score=-0.37;FATHMM_pred=T;PROVEAN_score=-3.68;PROVEAN_pred=D;VEST3_score=0.401;CADD_raw=3.106;CADD_phred=22.5;DANN_score=0.984;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.359;MetaSVM_pred=T;MetaLR_score=0.304;MetaLR_pred=T;integrated_fitCons_score=0.523;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.104;GDI_full_10282015=.;dpsi_max_tissue=-0.0039;dpsi_zscore=0.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0030;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0064;gnomAD_exome_NFE=0.0044;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0049;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-578.854,0,-635.389:573:291:276:8718:9453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1072.8,0,-1111.19:1036:520:510:16345:16566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179421609 . C T 3875.77 . AB=0.418112;ABP=33.2394;AC=9;AF=0.5;AN=16;AO=217;CIGAR=1X;DP=2908;DPB=519;DPRA=0;EPP=75.3093;EPPR=20.6268;GTI=0;LEN=1;MEANALT=3;MQM=38.0876;MQMR=38.6655;NS=1;NUMALT=1;ODDS=778.838;PAIRED=0.990783;PAIREDR=0.964789;PAO=0;PQA=0;PQR=0;PRO=0;QA=5994;QR=8426;RO=284;RPL=97;RPP=8.30389;RPPR=38.3655;RPR=120;RUN=1;SAF=131;SAP=23.274;SAR=86;SF=0,1;SRF=190;SRP=73.4761;SRR=94;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon158:c.G61077A:p.E20359E,TTN:NM_133432:exon159:c.G61452A:p.E20484E,TTN:NM_133437:exon159:c.G61653A:p.E20551E,TTN:NM_133378:exon279:c.G80568A:p.E26856E,TTN:NM_001256850:exon280:c.G83349A:p.E27783E,TTN:NM_001267550:exon330:c.G88272A:p.E29424E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0291;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0291;1000g2015aug_all=0.0842652;avsnp147=rs9808036;Kaviar_AF=0.066364;Kaviar_AC=10260;Kaviar_AN=154602;ExAC_ALL=0.0701;ExAC_AFR=0.0347;ExAC_AMR=0.1963;ExAC_EAS=0.0259;ExAC_FIN=0.0591;ExAC_NFE=0.0325;ExAC_OTH=0.0674;ExAC_SAS=0.1815;CLNALLELEID=56640;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1094;dpsi_zscore=0.511;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0758;gnomAD_exome_AFR=0.0325;gnomAD_exome_AMR=0.1949;gnomAD_exome_ASJ=0.0305;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0577;gnomAD_exome_NFE=0.0324;gnomAD_exome_OTH=0.0624;gnomAD_exome_SAS=0.1810;gnomAD_genome_ALL=0.0373;gnomAD_genome_AFR=0.0331;gnomAD_genome_AMR=0.1683;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0282;gnomAD_genome_FIN=0.0529;gnomAD_genome_NFE=0.0284;gnomAD_genome_OTH=0.0602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-357.392,0,-558.773:519:284:217:5994:8426 . . . . 0/1:-375.946,0,-344.009:421:194:209:5905:5480 . . . . . . . . . . . . . . . . . . . . . . 0/1:-172.824,0,-145.597:177:78:91:2639:2318 . 1/1:-967.67,-108.633,0:418:6:405:11661:170 . . . . . 0/1:-286.728,0,-305.086:324:160:155:4436:4661 0/1:-442.466,0,-421.805:468:221:236:6840:6608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-262.758,0,-332.401:288:155:128:4022:4799:155,128 0/1:-255.033,0,-328.626:293:156:130:3958:4822:156,130 . . . . . . . . . . . . . . . . . . chr2 179421694 . A G 4668.23 . AB=0.455285;ABP=13.6911;AC=50;AF=0.5;AN=88;AO=280;CIGAR=1X;DP=20946;DPB=615;DPRA=0;EPP=7.47733;EPPR=7.5409;GTI=0;LEN=1;MEANALT=3;MQM=38.1286;MQMR=39.1543;NS=1;NUMALT=1;ODDS=1113.48;PAIRED=0.989286;PAIREDR=0.950617;PAO=0;PQA=0;PQR=0;PRO=0;QA=8085;QR=10329;RO=324;RPL=195;RPP=96.8489;RPPR=39.7109;RPR=85;RUN=1;SAF=117;SAP=19.4204;SAR=163;SF=0,1;SRF=142;SRP=13.7336;SRR=182;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon158:c.T60992C:p.I20331T,TTN:NM_133432:exon159:c.T61367C:p.I20456T,TTN:NM_133437:exon159:c.T61568C:p.I20523T,TTN:NM_133378:exon279:c.T80483C:p.I26828T,TTN:NM_001256850:exon280:c.T83264C:p.I27755T,TTN:NM_001267550:exon330:c.T88187C:p.I29396T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3183;esp6500siv2_ea=0.2206;esp6500siv2_all=0.3183;esp6500siv2_ea=0.2206;1000g2015aug_all=0.507188;avsnp147=rs9808377;Kaviar_AF=0.33788;Kaviar_AC=52237;Kaviar_AN=154602;ExAC_ALL=0.3506;ExAC_AFR=0.5427;ExAC_AMR=0.4290;ExAC_EAS=0.6988;ExAC_FIN=0.2765;ExAC_NFE=0.2298;ExAC_OTH=0.3307;ExAC_SAS=0.5209;CLNALLELEID=56639;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.455;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=3.16;PROVEAN_pred=N;VEST3_score=0.066;CADD_raw=-0.530;CADD_phred=0.186;DANN_score=0.536;fathmm-MKL_coding_score=0.062;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.881;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-2.9;phyloP7way_vertebrate=-0.666;phyloP20way_mammalian=-1.254;phastCons7way_vertebrate=0.976;phastCons20way_mammalian=0.062;SiPhy_29way_logOdds=12.559;GDI_full_10282015=.;dpsi_max_tissue=-0.0088;dpsi_zscore=-0.029;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3504;gnomAD_exome_AFR=0.5434;gnomAD_exome_AMR=0.4259;gnomAD_exome_ASJ=0.2802;gnomAD_exome_EAS=0.7028;gnomAD_exome_FIN=0.2783;gnomAD_exome_NFE=0.2240;gnomAD_exome_OTH=0.3075;gnomAD_exome_SAS=0.5145;gnomAD_genome_ALL=0.3521;gnomAD_genome_AFR=0.5392;gnomAD_genome_AMR=0.4103;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.6912;gnomAD_genome_FIN=0.2682;gnomAD_genome_NFE=0.2291;gnomAD_genome_OTH=0.3045;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-503.423,0,-689.34:615:324:280:8085:10329 . . . . . . 0/1:-359.785,0,-492.433:422:227:186:5652:7394 . . 0/1:-332.5,0,-656.365:521:310:197:5852:9713 0/1:-396.536,0,-540.118:498:254:233:6481:8062 . . . 0/1:-352.716,0,-446.318:439:229:201:5746:6873 . . 1/1:-885.986,-104.042,0:392:7:374:10697:120 0/1:-257.204,0,-364.434:328:173:145:4154:5535 0/1:-609.383,0,-539.5:624:280:331:9446:8593 . . . . . 0/1:-535.373,0,-554.548:591:280:297:8476:8600 0/1:-366.161,0,-412.452:426:212:205:5899:6482 . . 0/1:-655.579,0,-762.546:749:370:359:10349:11653 0/1:-556.955,0,-591.653:617:303:301:8708:9344 . . . . 0/1:-497.56,0,-705.709:643:341:289:8155:10667 . 0/1:-168.501,0,-189.873:196:97:92:2682:3076 . 1/1:-905.29,-96.2754,0:392:7:375:11010:212 0/1:-521.475,0,-590.94:579:285:277:8185:8845 . . . 0/1:-357.38,0,-600.204:496:287:199:5900:9138 1/1:-719.252,-79.1453,0:311:5:294:8602:131 0/1:-439.366,0,-487.018:489:236:237:6817:7452 0/1:-451.678,0,-720.328:619:346:260:7487:10747 0/1:-585.347,0,-625.57:625:307:306:9071:9651 . . 0/1:-451.629,0,-638.613:574:308:255:7240:9687 0/1:-294.884,0,-483.109:412:228:175:4954:7121 . 0/1:-530.48,0,-562.352:571:285:281:8268:8720 . . . . 0/1:-682.703,0,-650.469:701:318:366:10665:10054 . 0/1:-432.059,0,-347.675:423:186:226:6574:5698 . . 0/1:-300.706,0,-289.765:332:152:170:4774:4639 0/1:-482.722,0,-582.86:564:286:262:7728:8889 . . . . . . . 0/1:-512.894,0,-545.055:574:279:281:7997:8515 . 0/1:-433.345,0,-708.955:608:333:262:7270:10546 . . 0/1:-436.799,0,-586.658:572:299:256:7164:9037 0/1:-536.754,0,-747.579:679:360:305:8672:11304 . . . . . 0/1:-563.315,0,-662.219:656:330:313:8837:10182 . 1/1:-1073.55,-118.116,0:490:9:468:13201:290 . 0/1:-344.868,0,-507.113:441:239:195:5694:7635 . . . . 0/1:-250.99,0,-413.216:315:181:128:4037:5869:181,128 1/1:-759.068,-77.6857,0:306:7:295:8997:160:7,295 0/1:-337.164,0,-435.492:370:197:167:5133:6399:197,167 . . . . 0/1:-378.678,0,-363.114:353:171:177:5557:5419:171,177 . 1/1:-615.417,-59.9995,0:254:5:246:7496:176:5,246 . 0/1:-250.903,0,-316.81:270:143:124:3849:4638:143,124 . 0/1:-291.571,0,-317.072:289:144:141:4340:4663:144,141 . . . 0/1:-241.787,0,-446.694:321:190:125:3870:6297:190,125 . 0/1:-306.414,0,-298.275:299:139:153:4692:4501:139,153 chr2 179422181 . C T 10206.85 . AB=0.442879;ABP=39.2287;AC=2;AF=0.5;AN=4;AO=566;CIGAR=1X;DP=2429;DPB=1278;DPRA=0;EPP=31.3852;EPPR=94.3715;GTI=0;LEN=1;MEANALT=3;MQM=38.6961;MQMR=39.2878;NS=1;NUMALT=1;ODDS=2338.98;PAIRED=0.961131;PAIREDR=0.961151;PAO=0;PQA=0;PQR=0;PRO=0;QA=17394;QR=21528;RO=695;RPL=421;RPP=295.261;RPPR=193.628;RPR=145;RUN=1;SAF=151;SAP=270.401;SAR=415;SF=0;SRF=218;SRP=212.6;SRR=477;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon157:c.G60613A:p.V20205I,TTN:NM_133432:exon158:c.G60988A:p.V20330I,TTN:NM_133437:exon158:c.G61189A:p.V20397I,TTN:NM_133378:exon278:c.G80104A:p.V26702I,TTN:NM_001256850:exon279:c.G82885A:p.V27629I,TTN:NM_001267550:exon329:c.G87808A:p.V29270I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;1000g2015aug_all=0.00259585;avsnp147=rs141624266;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;ExAC_ALL=0.0035;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0256;ExAC_NFE=0.0022;ExAC_OTH=0.0111;ExAC_SAS=0.0053;CLNALLELEID=56633;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-1.22;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=0.16;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=2.139;CADD_phred=17.11;DANN_score=0.841;fathmm-MKL_coding_score=0.392;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.033;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.411;phyloP7way_vertebrate=0.057;phyloP20way_mammalian=0.149;phastCons7way_vertebrate=0.917;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=5.395;GDI_full_10282015=.;dpsi_max_tissue=-0.3830;dpsi_zscore=-0.963;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.813e-05;gnomAD_exome_FIN=0.0268;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0048;gnomAD_genome_ALL=0.0052;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0240;gnomAD_genome_NFE=0.0041;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1087.79,0,-1454.94:1278:695:566:17394:21528 . 0/1:-1078.29,0,-1184.67:1151:588:551:16800:18142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179423099 . A G 8765.27 . AB=0.512111;ABP=4.11482;AC=1;AF=0.5;AN=2;AO=444;CIGAR=1X;DP=867;DPB=867;DPRA=0;EPP=104.424;EPPR=74.9791;GTI=0;LEN=1;MEANALT=3;MQM=39.6869;MQMR=40.0788;NS=1;NUMALT=1;ODDS=1823.76;PAIRED=0.97973;PAIREDR=0.985222;PAO=0;PQA=0;PQR=0;PRO=0;QA=13532;QR=12421;RO=406;RPL=214;RPP=4.26232;RPPR=12.445;RPR=230;RUN=1;SAF=158;SAP=83.1396;SAR=286;SF=0;SRF=175;SRP=19.7831;SRR=231;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon155:c.T59892C:p.L19964L,TTN:NM_133432:exon156:c.T60267C:p.L20089L,TTN:NM_133437:exon156:c.T60468C:p.L20156L,TTN:NM_133378:exon276:c.T79383C:p.L26461L,TTN:NM_001256850:exon277:c.T82164C:p.L27388L,TTN:NM_001267550:exon327:c.T87087C:p.L29029L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0159;esp6500siv2_ea=0.0208;esp6500siv2_all=0.0159;esp6500siv2_ea=0.0208;1000g2015aug_all=0.0223642;avsnp147=rs12621078;Kaviar_AF=0.0252713;Kaviar_AC=3907;Kaviar_AN=154602;ExAC_ALL=0.0267;ExAC_AFR=0.0038;ExAC_AMR=0.0364;ExAC_EAS=0.0673;ExAC_FIN=0.0526;ExAC_NFE=0.0257;ExAC_OTH=0.0228;ExAC_SAS=0.0069;CLNALLELEID=56624;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0261;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0340;gnomAD_exome_ASJ=0.0145;gnomAD_exome_EAS=0.0617;gnomAD_exome_FIN=0.0485;gnomAD_exome_NFE=0.0233;gnomAD_exome_OTH=0.0256;gnomAD_exome_SAS=0.0062;gnomAD_genome_ALL=0.0238;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0570;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0236;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-903.262,0,-810.087:867:406:444:13532:12421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179423177 . G A 9408.98 . AB=0.455672;ABP=20.9141;AC=1;AF=0.5;AN=2;AO=478;CIGAR=1X;DP=1049;DPB=1049;DPRA=0;EPP=89.5239;EPPR=59.8634;GTI=0;LEN=1;MEANALT=3;MQM=40.613;MQMR=41.0327;NS=1;NUMALT=1;ODDS=2166.5;PAIRED=0.979079;PAIREDR=0.958182;PAO=0;PQA=0;PQR=0;PRO=0;QA=14654;QR=16590;RO=550;RPL=189;RPP=48.4386;RPPR=71.8025;RPR=289;RUN=1;SAF=185;SAP=55.9979;SAR=293;SF=1;SRF=234;SRP=29.5575;SRR=316;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon155:c.C59814T:p.S19938S,TTN:NM_133432:exon156:c.C60189T:p.S20063S,TTN:NM_133437:exon156:c.C60390T:p.S20130S,TTN:NM_133378:exon276:c.C79305T:p.S26435S,TTN:NM_001256850:exon277:c.C82086T:p.S27362S,TTN:NM_001267550:exon327:c.C87009T:p.S29003S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764451541;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.493e-05;ExAC_AFR=0;ExAC_AMR=8.682e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=6.066e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.223e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.829e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.013e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-968.569,0,-1141.62:1049:550:478:14654:16590:550,478 . . chr2 179424048 . T C 4310.15 . AB=0.478571;ABP=4.68544;AC=11;AF=0.5;AN=18;AO=201;CIGAR=1X;DP=3234;DPB=420;DPRA=0;EPP=35.6904;EPPR=26.1832;GTI=0;LEN=1;MEANALT=3;MQM=39.9204;MQMR=39.8599;NS=1;NUMALT=1;ODDS=789.84;PAIRED=0.99005;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5626;QR=5889;RO=207;RPL=73;RPP=35.6904;RPPR=28.1973;RPR=128;RUN=1;SAF=146;SAP=92.4728;SAR=55;SF=0,1;SRF=159;SRP=132.26;SRR=48;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A59616G:p.V19872V,TTN:NM_133432:exon155:c.A59991G:p.V19997V,TTN:NM_133437:exon155:c.A60192G:p.V20064V,TTN:NM_133378:exon275:c.A79107G:p.V26369V,TTN:NM_001256850:exon276:c.A81888G:p.V27296V,TTN:NM_001267550:exon326:c.A86811G:p.V28937V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0239;esp6500siv2_ea=0.0324;esp6500siv2_all=0.0239;esp6500siv2_ea=0.0324;1000g2015aug_all=0.0161741;avsnp147=rs55972010;Kaviar_AF=0.0231562;Kaviar_AC=3580;Kaviar_AN=154602;ExAC_ALL=0.0243;ExAC_AFR=0.0040;ExAC_AMR=0.0086;ExAC_EAS=0.0001;ExAC_FIN=0.0263;ExAC_NFE=0.0314;ExAC_OTH=0.0190;ExAC_SAS=0.0333;CLNALLELEID=56621;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0228;gnomAD_exome_AFR=0.0040;gnomAD_exome_AMR=0.0094;gnomAD_exome_ASJ=0.0249;gnomAD_exome_EAS=6.026e-05;gnomAD_exome_FIN=0.0266;gnomAD_exome_NFE=0.0312;gnomAD_exome_OTH=0.0255;gnomAD_exome_SAS=0.0254;gnomAD_genome_ALL=0.0221;gnomAD_genome_AFR=0.0039;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0266;gnomAD_genome_NFE=0.0344;gnomAD_genome_OTH=0.0306;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-366.014,0,-382.46:420:207:201:5626:5889 . . . . . . . . . . 0/1:-165.573,0,-285.176:254:146:101:2783:4175 . . . . . . . . . 0/1:-263.916,0,-282.305:302:146:146:4055:4314 . . . . . . . . . . . 0/1:-341.041,0,-338.599:399:190:198:5321:5375 0/1:-329.954,0,-395.978:416:207:197:5288:6126 . . . . . . . . . . . . . . . . 0/1:-197.992,0,-214.392:241:118:119:3159:3315 . . . . . . . . . . . . . . . 1/1:-960.399,-97.7739,0:439:11:413:11477:343 . . . . . . . . . . . . . . . . 0/1:-328.19,0,-373.561:406:203:193:5142:5717 . . . . . . . . . . . . . . . . . 1/1:-868.959,-76.3854,0:357:10:339:10426:325:10,339 . . . . chr2 179424558 . C T 5662.27 . AB=0.479941;ABP=5.36246;AC=1;AF=0.5;AN=2;AO=323;CIGAR=1X;DP=673;DPB=673;DPRA=0;EPP=7.21207;EPPR=13.4126;GTI=0;LEN=1;MEANALT=3;MQM=38.8452;MQMR=39.1647;NS=1;NUMALT=1;ODDS=1303.79;PAIRED=0.993808;PAIREDR=0.994012;PAO=0;PQA=0;PQR=0;PRO=0;QA=9418;QR=9839;RO=334;RPL=141;RPP=14.3114;RPPR=31.3305;RPR=182;RUN=1;SAF=245;SAP=190.503;SAR=78;SF=0;SRF=235;SRP=123.26;SRR=99;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G59106A:p.K19702K,TTN:NM_133432:exon155:c.G59481A:p.K19827K,TTN:NM_133437:exon155:c.G59682A:p.K19894K,TTN:NM_133378:exon275:c.G78597A:p.K26199K,TTN:NM_001256850:exon276:c.G81378A:p.K27126K,TTN:NM_001267550:exon326:c.G86301A:p.K28767K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0118;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0118;1000g2015aug_all=0.00279553;avsnp147=rs56310931;Kaviar_AF=0.0086351;Kaviar_AC=1335;Kaviar_AN=154602;ExAC_ALL=0.0089;ExAC_AFR=0.0014;ExAC_AMR=0.0044;ExAC_EAS=0.0001;ExAC_FIN=0.0169;ExAC_NFE=0.0117;ExAC_OTH=0.0135;ExAC_SAS=0.0065;CLNALLELEID=56616;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0088;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0.0161;gnomAD_exome_EAS=5.803e-05;gnomAD_exome_FIN=0.0153;gnomAD_exome_NFE=0.0113;gnomAD_exome_OTH=0.0129;gnomAD_exome_SAS=0.0060;gnomAD_genome_ALL=0.0084;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0195;gnomAD_genome_NFE=0.0102;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-595.004,0,-642.003:673:334:323:9418:9839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179424600 . T C 6545.94 . AB=0.489308;ABP=3.79968;AC=1;AF=0.5;AN=2;AO=389;CIGAR=1X;DP=795;DPB=795;DPRA=0;EPP=79.4249;EPPR=35.9378;GTI=0;LEN=1;MEANALT=3;MQM=37.5887;MQMR=38.8951;NS=1;NUMALT=1;ODDS=1507.26;PAIRED=0.96401;PAIREDR=0.994885;PAO=0;PQA=0;PQR=0;PRO=0;QA=10868;QR=11563;RO=391;RPL=170;RPP=16.4131;RPPR=21.0541;RPR=219;RUN=1;SAF=240;SAP=49.2364;SAR=149;SF=0;SRF=224;SRP=21.0541;SRR=167;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A59064G:p.L19688L,TTN:NM_133432:exon155:c.A59439G:p.L19813L,TTN:NM_133437:exon155:c.A59640G:p.L19880L,TTN:NM_133378:exon275:c.A78555G:p.L26185L,TTN:NM_001256850:exon276:c.A81336G:p.L27112L,TTN:NM_001267550:exon326:c.A86259G:p.L28753L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=285776;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-676.053,0,-742.546:795:391:389:10868:11563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179425397 . C T 13146.30 . AB=0.471533;ABP=12.6535;AC=1;AF=0.5;AN=2;AO=646;CIGAR=1X;DP=1370;DPB=1370;DPRA=0;EPP=67.025;EPPR=53.2609;GTI=0;LEN=1;MEANALT=3;MQM=39.5944;MQMR=39.7924;NS=1;NUMALT=1;ODDS=3027.06;PAIRED=0.970588;PAIREDR=0.957627;PAO=0;PQA=0;PQR=0;PRO=0;QA=20419;QR=21968;RO=708;RPL=320;RPP=3.13131;RPPR=4.77692;RPR=326;RUN=1;SAF=334;SAP=4.63722;SAR=312;SF=0;SRF=348;SRP=3.45196;SRR=360;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G58267A:p.V19423I,TTN:NM_133432:exon155:c.G58642A:p.V19548I,TTN:NM_133437:exon155:c.G58843A:p.V19615I,TTN:NM_133378:exon275:c.G77758A:p.V25920I,TTN:NM_001256850:exon276:c.G80539A:p.V26847I,TTN:NM_001267550:exon326:c.G85462A:p.V28488I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs377264123;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=7.503e-05;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=6.028e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=283233;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.019;SIFT_pred=D;Polyphen2_HDIV_score=0.428;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.112;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.91;MutationAssessor_pred=L;FATHMM_score=0.17;FATHMM_pred=T;PROVEAN_score=-0.55;PROVEAN_pred=N;VEST3_score=0.263;CADD_raw=3.216;CADD_phred=22.7;DANN_score=0.843;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.875;MetaSVM_pred=T;MetaLR_score=0.140;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.1;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.068;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.914;SiPhy_29way_logOdds=15.401;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.53e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=2.982e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.121e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.464e-05;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1330.04,0,-1464.74:1370:708:646:20419:21968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179426046 . A G 10670.90 . AB=0.497589;ABP=3.06265;AC=1;AF=0.5;AN=2;AO=516;CIGAR=1X;DP=1037;DPB=1037;DPRA=0;EPP=7.87507;EPPR=3.07842;GTI=0;LEN=1;MEANALT=3;MQM=40.2539;MQMR=40.7314;NS=1;NUMALT=1;ODDS=2452.94;PAIRED=0.963178;PAIREDR=0.966667;PAO=0;PQA=0;PQR=0;PRO=0;QA=16102;QR=16007;RO=510;RPL=191;RPP=78.5742;RPPR=93.7693;RPR=325;RUN=1;SAF=268;SAP=4.69361;SAR=248;SF=1;SRF=251;SRP=3.2828;SRR=259;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T57618C:p.L19206L,TTN:NM_133432:exon155:c.T57993C:p.L19331L,TTN:NM_133437:exon155:c.T58194C:p.L19398L,TTN:NM_133378:exon275:c.T77109C:p.L25703L,TTN:NM_001256850:exon276:c.T79890C:p.L26630L,TTN:NM_001267550:exon326:c.T84813C:p.L28271L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750161027;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.288e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.073e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.001e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1083.35,0,-1082.48:1037:510:516:16102:16007:510,516 . . . . . . . . . . . . . . . . . . . chr2 179427186 . A G 8359.20 . AB=0.445611;ABP=29.9382;AC=50;AF=0.5;AN=88;AO=467;CIGAR=1X;DP=35571;DPB=1048;DPRA=0;EPP=18.1176;EPPR=3.583;GTI=0;LEN=1;MEANALT=3;MQM=38.833;MQMR=39.3681;NS=1;NUMALT=1;ODDS=1880.04;PAIRED=0.987152;PAIREDR=0.983516;PAO=0;PQA=0;PQR=0;PRO=0;QA=13179;QR=15951;RO=546;RPL=280;RPP=43.2267;RPPR=60.2799;RPR=187;RUN=1;SAF=227;SAP=3.79612;SAR=240;SF=0,1;SRF=276;SRP=3.15347;SRR=270;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T56478C:p.G18826G,TTN:NM_133432:exon155:c.T56853C:p.G18951G,TTN:NM_133437:exon155:c.T57054C:p.G19018G,TTN:NM_133378:exon275:c.T75969C:p.G25323G,TTN:NM_001256850:exon276:c.T78750C:p.G26250G,TTN:NM_001267550:exon326:c.T83673C:p.G27891G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3180;esp6500siv2_ea=0.2228;esp6500siv2_all=0.3180;esp6500siv2_ea=0.2228;1000g2015aug_all=0.508786;avsnp147=rs2366751;Kaviar_AF=0.337078;Kaviar_AC=52113;Kaviar_AN=154602;ExAC_ALL=0.3513;ExAC_AFR=0.5427;ExAC_AMR=0.4301;ExAC_EAS=0.6962;ExAC_FIN=0.2763;ExAC_NFE=0.2312;ExAC_OTH=0.3315;ExAC_SAS=0.5212;CLNALLELEID=56593;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3508;gnomAD_exome_AFR=0.5439;gnomAD_exome_AMR=0.4270;gnomAD_exome_ASJ=0.2795;gnomAD_exome_EAS=0.7032;gnomAD_exome_FIN=0.2774;gnomAD_exome_NFE=0.2252;gnomAD_exome_OTH=0.3090;gnomAD_exome_SAS=0.5141;gnomAD_genome_ALL=0.3529;gnomAD_genome_AFR=0.5390;gnomAD_genome_AMR=0.4117;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.6928;gnomAD_genome_FIN=0.2683;gnomAD_genome_NFE=0.2311;gnomAD_genome_OTH=0.3016;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-831.357,0,-1049.18:1048:546:467:13179:15951 . . . . . . 0/1:-678.339,0,-700.487:753:368:369:10685:10901 . . 0/1:-721.293,0,-707.259:783:377:384:11230:11027 0/1:-610.552,0,-823.905:780:407:346:9729:12376 . . . 0/1:-617.718,0,-607.283:697:327:349:10038:9606 . . 1/1:-1392.58,-170.927,0:595:2:577:16654:50 0/1:-521.3,0,-579.356:618:302:290:8407:8954 0/1:-966.952,0,-1014.14:1100:521:533:15110:15588 . . . . . 0/1:-764.927,0,-868.627:904:451:429:12119:13253 0/1:-558.544,0,-549.482:638:306:313:8891:9052 . . 0/1:-941.413,0,-1163.75:1146:591:518:14965:17543 0/1:-834.369,0,-856.853:926:432:462:13025:13231 . . . . 0/1:-833.822,0,-1046.24:1004:516:469:13387:15665 . 0/1:-260.811,0,-366.818:344:182:151:4269:5502 . 1/1:-1596.6,-168.023,0:707:13:676:19286:447 0/1:-700.645,0,-887.87:879:460:394:11165:13593 . . . 0/1:-848.377,0,-770.472:899:414:449:13130:12306 1/1:-1181.12,-142.332,0:490:1:476:13813:14 0/1:-760.906,0,-644.141:769:340:403:11596:10073 0/1:-947.161,0,-993.045:1070:516:525:14677:15435 0/1:-766.173,0,-983.083:944:502:417:12092:14811 . . 0/1:-794.665,0,-795.698:904:428:445:12449:12511 0/1:-458.597,0,-508.693:552:267:262:7355:7999 . 0/1:-891.887,0,-935.736:969:475:472:13823:14338 . . . . 0/1:-1028.48,0,-1005.9:1127:530:555:16057:15680 . 0/1:-563.759,0,-546.274:614:291:303:8702:8456 . . 0/1:-361.525,0,-442.885:454:232:216:5955:6893 0/1:-769.251,0,-1059.99:983:531:428:12232:16000 . . . . . . . 0/1:-872.221,0,-917.133:1007:493:488:13705:14451 . 0/1:-920.835,0,-1106.33:1082:555:501:14452:16679 . . 0/1:-855.233,0,-851.818:950:449:464:13353:13509 0/1:-871.693,0,-928.56:998:488:481:13726:14521 . . . . . 0/1:-897.072,0,-888.658:981:462:496:14153:13872 . 1/1:-2088.9,-223.149,0:929:21:885:25329:576 . 0/1:-639.548,0,-734.64:778:388:367:10269:11378 . . . . 0/1:-621.396,0,-776.892:691:372:304:9509:11464:372,304 1/1:-1818.8,-174.614,0:727:15:701:21552:472:15,701 0/1:-787.265,0,-935.645:895:468:406:12139:13914:468,406 . . . . 0/1:-704.152,0,-728.368:741:371:350:10725:10930:371,350 . 1/1:-1583.72,-164.82,0:621:11:604:18674:256:11,604 . 0/1:-620.552,0,-569.691:615:302:301:9212:8873:302,301 . 0/1:-722.081,0,-588.009:653:301:336:10499:9047:301,336 . . . 0/1:-575.647,0,-634.425:608:305:285:8736:9442:305,285 . 0/1:-582.913,0,-593.184:598:297:288:8816:8841:297,288 chr2 179427536 . T C 8340.50 . AB=0.451646;ABP=22.7501;AC=50;AF=0.5;AN=88;AO=439;CIGAR=1X;DP=34690;DPB=972;DPRA=0;EPP=26.5601;EPPR=18.1601;GTI=0;LEN=1;MEANALT=3;MQM=38.9431;MQMR=38.781;NS=1;NUMALT=1;ODDS=1865.01;PAIRED=0.977221;PAIREDR=0.968992;PAO=0;PQA=0;PQR=0;PRO=0;QA=13148;QR=16640;RO=516;RPL=158;RPP=77.8445;RPPR=188.595;RPR=281;RUN=1;SAF=216;SAP=3.25267;SAR=223;SF=0,1;SRF=269;SRP=5.04711;SRR=247;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A56128G:p.I18710V,TTN:NM_133432:exon155:c.A56503G:p.I18835V,TTN:NM_133437:exon155:c.A56704G:p.I18902V,TTN:NM_133378:exon275:c.A75619G:p.I25207V,TTN:NM_001256850:exon276:c.A78400G:p.I26134V,TTN:NM_001267550:exon326:c.A83323G:p.I27775V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3200;esp6500siv2_ea=0.2229;esp6500siv2_all=0.3200;esp6500siv2_ea=0.2229;1000g2015aug_all=0.508387;avsnp147=rs3829746;Kaviar_AF=0.337777;Kaviar_AC=52221;Kaviar_AN=154602;ExAC_ALL=0.3536;ExAC_AFR=0.5465;ExAC_AMR=0.4329;ExAC_EAS=0.6995;ExAC_FIN=0.2760;ExAC_NFE=0.2335;ExAC_OTH=0.3372;ExAC_SAS=0.5218;CLNALLELEID=56589;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.971;MutationTaster_pred=P;MutationAssessor_score=-0.615;MutationAssessor_pred=N;FATHMM_score=0.62;FATHMM_pred=T;PROVEAN_score=0.53;PROVEAN_pred=N;VEST3_score=0.033;CADD_raw=0.936;CADD_phred=10.29;DANN_score=0.862;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.971;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.15;phyloP7way_vertebrate=-1.188;phyloP20way_mammalian=-0.302;phastCons7way_vertebrate=0.935;phastCons20way_mammalian=0.908;SiPhy_29way_logOdds=9.630;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3519;gnomAD_exome_AFR=0.5448;gnomAD_exome_AMR=0.4277;gnomAD_exome_ASJ=0.2814;gnomAD_exome_EAS=0.7027;gnomAD_exome_FIN=0.2782;gnomAD_exome_NFE=0.2261;gnomAD_exome_OTH=0.3101;gnomAD_exome_SAS=0.5153;gnomAD_genome_ALL=0.3527;gnomAD_genome_AFR=0.5386;gnomAD_genome_AMR=0.4117;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.6938;gnomAD_genome_FIN=0.2683;gnomAD_genome_NFE=0.2309;gnomAD_genome_OTH=0.3041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-829.108,0,-1106.81:972:516:439:13148:16640 . . . . . . 0/1:-470.081,0,-896.058:683:405:266:7932:13074 . . 0/1:-750.396,0,-711.71:742:351:382:11388:11192 0/1:-614.43,0,-863.842:763:413:336:10089:13069 . . . 0/1:-590.839,0,-579.863:620:292:320:9414:9219 . . 1/1:-1392.53,-159.112,0:604:5:575:16915:176 0/1:-538.617,0,-614.497:568:287:275:8324:9254 0/1:-963.532,0,-1001.68:1008:483:506:14890:15448 . . . . . 0/1:-833.908,0,-978.041:909:462:432:12940:14844 0/1:-496.619,0,-573.263:572:287:271:8058:8809 . . 0/1:-933.828,0,-1075.27:1010:514:481:14495:16401 0/1:-791.793,0,-925.008:860:439:408:12295:14036 . . . . 0/1:-792.44,0,-955.187:899:464:423:12524:14432 . 0/1:-230.232,0,-408.103:316:186:127:3898:5953 . 1/1:-1635.67,-183.915,0:659:5:639:19402:123 0/1:-688.439,0,-844.096:785:405:370:10949:12906 . . . 0/1:-733.72,0,-696.42:745:347:389:11410:11009 1/1:-1089.3,-111.307,0:460:10:439:13077:282 0/1:-668.33,0,-552.364:613:274:326:10056:8661 0/1:-912.11,0,-1037.26:969:491:463:13989:15756 0/1:-843.673,0,-882.648:856:420:426:13030:13631 . . 0/1:-961.211,0,-878.6:930:435:487:14560:13899 0/1:-506.948,0,-711.677:654:346:295:8574:11001 . 0/1:-836.245,0,-934.405:897:453:429:13114:14400 . . . . 0/1:-951.569,0,-1002.74:995:482:492:14697:15384 . 0/1:-588.014,0,-654.924:662:324:321:9246:10362 . . 0/1:-401.802,0,-551.025:516:269:238:6860:8455 0/1:-714.786,0,-949.734:846:443:386:11423:14323 . . . . . . . 0/1:-756.973,0,-1024.88:914:488:410:12343:15422 . 0/1:-910.089,0,-1046.58:996:505:477:14237:15823 . . 0/1:-840.038,0,-904.911:893:438:443:13143:13923 0/1:-892.753,0,-986.336:964:476:467:13893:15097 . . . . . 0/1:-842.855,0,-948.853:907:449:443:12996:14464 . 1/1:-1810.92,-182.642,0:799:21:760:22471:618 . 0/1:-689.117,0,-669.438:691:328:349:10348:10474 . . . . 0/1:-729.671,0,-991.345:804:433:359:11140:14166:433,359 1/1:-2180.77,-207.832,0:862:19:826:25626:536:19,826 0/1:-933.1,0,-1139.35:987:516:459:14311:16859:516,459 . . . . 0/1:-1090.11,0,-991.53:1017:475:524:16093:15004:475,524 . 1/1:-1593.49,-142.421,0:656:18:627:19216:596:18,627 . 0/1:-726.674,0,-786.838:714:357:347:10833:11592:357,347 . 0/1:-765.732,0,-881.706:797:408:381:11856:12994:408,381 . . . 0/1:-755.779,0,-996.34:832:457:370:11629:14426:457,370 . 0/1:-761.186,0,-764.663:744:355:375:11415:11458:355,375 chr2 179428119 . C T 8578.34 . AB=0.465095;ABP=14.6827;AC=2;AF=0.5;AN=4;AO=513;CIGAR=1X;DP=1983;DPB=1103;DPRA=0;EPP=19.8106;EPPR=16.2483;GTI=0;LEN=1;MEANALT=3;MQM=37.1131;MQMR=37.8844;NS=1;NUMALT=1;ODDS=2137.05;PAIRED=0.933723;PAIREDR=0.938704;PAO=0;PQA=0;PQR=0;PRO=0;QA=15434;QR=17240;RO=571;RPL=326;RPP=84.794;RPPR=49.8662;RPR=187;RUN=1;SAF=272;SAP=7.07811;SAR=241;SF=0;SRF=304;SRP=8.21651;SRR=267;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G55545A:p.T18515T,TTN:NM_133432:exon155:c.G55920A:p.T18640T,TTN:NM_133437:exon155:c.G56121A:p.T18707T,TTN:NM_133378:exon275:c.G75036A:p.T25012T,TTN:NM_001256850:exon276:c.G77817A:p.T25939T,TTN:NM_001267550:exon326:c.G82740A:p.T27580T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00778754;avsnp147=rs56345408;Kaviar_AF=0.0081629;Kaviar_AC=1262;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0011;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0171;ExAC_NFE=0.0079;ExAC_OTH=0.0067;ExAC_SAS=0.0229;CLNALLELEID=56582;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0024;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0145;gnomAD_exome_NFE=0.0077;gnomAD_exome_OTH=0.0071;gnomAD_exome_SAS=0.0216;gnomAD_genome_ALL=0.0070;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-947.112,0,-1098.89:1103:571:513:15434:17240 . . . . . . . . . . . . . . . . 0/1:-800.031,0,-787.414:880:419:440:12931:12789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179428299 . G T 9910.83 . AB=0.494845;ABP=3.27894;AC=1;AF=0.5;AN=2;AO=576;CIGAR=1X;DP=1164;DPB=1164;DPRA=0;EPP=109.412;EPPR=12.6016;GTI=0;LEN=1;MEANALT=3;MQM=37.8958;MQMR=38.424;NS=1;NUMALT=1;ODDS=2282.05;PAIRED=0.980903;PAIREDR=0.984099;PAO=0;PQA=0;PQR=0;PRO=0;QA=16010;QR=16932;RO=566;RPL=288;RPP=3.0103;RPPR=5.60379;RPR=288;RUN=1;SAF=302;SAP=5.96592;SAR=274;SF=0;SRF=318;SRP=21.8093;SRR=248;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C55365A:p.N18455K,TTN:NM_133432:exon155:c.C55740A:p.N18580K,TTN:NM_133437:exon155:c.C55941A:p.N18647K,TTN:NM_133378:exon275:c.C74856A:p.N24952K,TTN:NM_001256850:exon276:c.C77637A:p.N25879K,TTN:NM_001267550:exon326:c.C82560A:p.N27520K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;1000g2015aug_all=0.00579073;avsnp147=rs56264840;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;ExAC_ALL=0.0042;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0225;CLNALLELEID=56579;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.735;MutationAssessor_pred=M;FATHMM_score=0.35;FATHMM_pred=T;PROVEAN_score=-4.57;PROVEAN_pred=D;VEST3_score=0.194;CADD_raw=1.633;CADD_phred=14.03;DANN_score=0.923;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.467;MetaSVM_pred=T;MetaLR_score=0.323;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.79;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=0.135;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=7.167;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0212;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1010.24,0,-1084.44:1164:566:576:16010:16932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179429004 . G A 8750.94 . AB=0.491005;ABP=3.67438;AC=1;AF=0.5;AN=2;AO=464;CIGAR=1X;DP=945;DPB=945;DPRA=0;EPP=44.3619;EPPR=72.3669;GTI=0;LEN=1;MEANALT=3;MQM=38.8341;MQMR=40.2082;NS=1;NUMALT=1;ODDS=2014.98;PAIRED=0.978448;PAIREDR=0.967811;PAO=0;PQA=0;PQR=0;PRO=0;QA=14065;QR=14718;RO=466;RPL=146;RPP=141.46;RPPR=96.9707;RPR=318;RUN=1;SAF=193;SAP=31.4828;SAR=271;SF=0;SRF=210;SRP=12.8705;SRR=256;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C54660T:p.I18220I,TTN:NM_133432:exon155:c.C55035T:p.I18345I,TTN:NM_133437:exon155:c.C55236T:p.I18412I,TTN:NM_133378:exon275:c.C74151T:p.I24717I,TTN:NM_001256850:exon276:c.C76932T:p.I25644I,TTN:NM_001267550:exon326:c.C81855T:p.I27285I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0157;esp6500siv2_ea=0.0206;esp6500siv2_all=0.0157;esp6500siv2_ea=0.0206;1000g2015aug_all=0.0221645;avsnp147=rs56214710;Kaviar_AF=0.0243399;Kaviar_AC=3763;Kaviar_AN=154602;ExAC_ALL=0.0259;ExAC_AFR=0.0036;ExAC_AMR=0.0355;ExAC_EAS=0.0622;ExAC_FIN=0.0525;ExAC_NFE=0.0250;ExAC_OTH=0.0233;ExAC_SAS=0.0068;CLNALLELEID=56567;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0260;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0145;gnomAD_exome_EAS=0.0595;gnomAD_exome_FIN=0.0486;gnomAD_exome_NFE=0.0232;gnomAD_exome_OTH=0.0258;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0235;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0533;gnomAD_genome_FIN=0.0536;gnomAD_genome_NFE=0.0235;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-904.13,0,-989.389:945:466:464:14065:14718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179429301 . A G 6986.64 . AB=0.470738;ABP=8.85615;AC=2;AF=0.5;AN=4;AO=370;CIGAR=1X;DP=1557;DPB=786;DPRA=0;EPP=3.0103;EPPR=3.20476;GTI=0;LEN=1;MEANALT=3;MQM=39.2595;MQMR=39.8856;NS=1;NUMALT=1;ODDS=1661.98;PAIRED=0.986486;PAIREDR=0.987562;PAO=0;PQA=0;PQR=0;PRO=0;QA=11304;QR=12641;RO=402;RPL=196;RPP=5.85082;RPPR=6.12166;RPR=174;RUN=1;SAF=143;SAP=44.4209;SAR=227;SF=0;SRF=155;SRP=48.7301;SRR=247;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T54363C:p.N18121N,TTN:NM_133432:exon155:c.T54738C:p.N18246N,TTN:NM_133437:exon155:c.T54939C:p.N18313N,TTN:NM_133378:exon275:c.T73854C:p.N24618N,TTN:NM_001256850:exon276:c.T76635C:p.N25545N,TTN:NM_001267550:exon326:c.T81558C:p.N27186N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0065;1000g2015aug_all=0.00299521;avsnp147=rs56181243;Kaviar_AF=0.005194;Kaviar_AC=803;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0009;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0219;ExAC_NFE=0.0056;ExAC_OTH=0.0079;ExAC_SAS=0.0043;CLNALLELEID=56564;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0063;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0047;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0254;gnomAD_exome_NFE=0.0058;gnomAD_exome_OTH=0.0064;gnomAD_exome_SAS=0.0042;gnomAD_genome_ALL=0.0053;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0235;gnomAD_genome_NFE=0.0045;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-734.214,0,-849.688:786:402:370:11304:12641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-686.322,0,-799.947:771:392:361:10867:12235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179430060 . G T 2507.84 . AB=0.476667;ABP=4.429;AC=1;AF=0.5;AN=2;AO=143;CIGAR=1X;DP=300;DPB=300;DPRA=0;EPP=48.9453;EPPR=44.1273;GTI=0;LEN=1;MEANALT=2;MQM=35.7483;MQMR=37.487;NS=1;NUMALT=1;ODDS=577.451;PAIRED=0.979021;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4394;QR=4787;RO=154;RPL=60;RPP=11.0432;RPPR=5.77399;RPR=83;RUN=1;SAF=77;SAP=4.8477;SAR=66;SF=0;SRF=82;SRP=4.42035;SRR=72;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C53604A:p.T17868T,TTN:NM_133432:exon155:c.C53979A:p.T17993T,TTN:NM_133437:exon155:c.C54180A:p.T18060T,TTN:NM_133378:exon275:c.C73095A:p.T24365T,TTN:NM_001256850:exon276:c.C75876A:p.T25292T,TTN:NM_001267550:exon326:c.C80799A:p.T26933T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0159;esp6500siv2_ea=0.0206;esp6500siv2_all=0.0159;esp6500siv2_ea=0.0206;1000g2015aug_all=0.0221645;avsnp147=rs3813247;Kaviar_AF=0.0251484;Kaviar_AC=3888;Kaviar_AN=154602;ExAC_ALL=0.0260;ExAC_AFR=0.0036;ExAC_AMR=0.0354;ExAC_EAS=0.0635;ExAC_FIN=0.0525;ExAC_NFE=0.0250;ExAC_OTH=0.0233;ExAC_SAS=0.0068;CLNALLELEID=56557;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0261;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0341;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=0.0611;gnomAD_exome_FIN=0.0486;gnomAD_exome_NFE=0.0232;gnomAD_exome_OTH=0.0257;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0237;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0575;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0235;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-263.399,0,-308.089:300:154:143:4394:4787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179430460 . A G 9875.30 . AB=0.499511;ABP=3.01242;AC=1;AF=0.5;AN=2;AO=511;CIGAR=1X;DP=1023;DPB=1023;DPRA=0;EPP=229.766;EPPR=297.772;GTI=0;LEN=1;MEANALT=3;MQM=38.1566;MQMR=39.0301;NS=1;NUMALT=1;ODDS=2273.87;PAIRED=0.966732;PAIREDR=0.97992;PAO=0;PQA=0;PQR=0;PRO=0;QA=15896;QR=16480;RO=498;RPL=289;RPP=22.0861;RPPR=147.444;RPR=222;RUN=1;SAF=224;SAP=19.8764;SAR=287;SF=0;SRF=167;SRP=120.287;SRR=331;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T53204C:p.M17735T,TTN:NM_133432:exon155:c.T53579C:p.M17860T,TTN:NM_133437:exon155:c.T53780C:p.M17927T,TTN:NM_133378:exon275:c.T72695C:p.M24232T,TTN:NM_001256850:exon276:c.T75476C:p.M25159T,TTN:NM_001267550:exon326:c.T80399C:p.M26800T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs761384994;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.657e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=285825;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.831;MutationTaster_pred=N;MutationAssessor_score=-1.135;MutationAssessor_pred=N;FATHMM_score=0.59;FATHMM_pred=T;PROVEAN_score=-2.22;PROVEAN_pred=N;VEST3_score=0.466;CADD_raw=0.970;CADD_phred=10.49;DANN_score=0.795;fathmm-MKL_coding_score=0.768;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.067;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.57;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.080;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.632e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.709e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1022.59,0,-1076.87:1023:498:511:15896:16480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179430997 . G A 8785.55 . AB=0.47651;ABP=6.58084;AC=38;AF=0.5;AN=70;AO=355;CIGAR=1X;DP=31093;DPB=745;DPRA=0;EPP=15.3969;EPPR=34.9753;GTI=0;LEN=1;MEANALT=3;MQM=39.3183;MQMR=39.629;NS=1;NUMALT=1;ODDS=1501.59;PAIRED=0.983099;PAIREDR=0.994624;PAO=0;PQA=0;PQR=0;PRO=0;QA=10299;QR=10955;RO=372;RPL=154;RPP=16.5224;RPPR=7.58674;RPR=201;RUN=1;SAF=195;SAP=10.5034;SAR=160;SF=0,1;SRF=219;SRP=28.4375;SRR=153;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C52667T:p.T17556M,TTN:NM_133432:exon155:c.C53042T:p.T17681M,TTN:NM_133437:exon155:c.C53243T:p.T17748M,TTN:NM_133378:exon275:c.C72158T:p.T24053M,TTN:NM_001256850:exon276:c.C74939T:p.T24980M,TTN:NM_001267550:exon326:c.C79862T:p.T26621M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2176;esp6500siv2_ea=0.1669;esp6500siv2_all=0.2176;esp6500siv2_ea=0.1669;1000g2015aug_all=0.342252;avsnp147=rs3731746;Kaviar_AF=0.223128;Kaviar_AC=34496;Kaviar_AN=154602;ExAC_ALL=0.2343;ExAC_AFR=0.3331;ExAC_AMR=0.1867;ExAC_EAS=0.6061;ExAC_FIN=0.1652;ExAC_NFE=0.1691;ExAC_OTH=0.2278;ExAC_SAS=0.3074;CLNALLELEID=56547;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.107;SIFT_pred=T;Polyphen2_HDIV_score=0.914;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.636;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.017;MutationTaster_pred=P;MutationAssessor_score=2.485;MutationAssessor_pred=M;FATHMM_score=-0.34;FATHMM_pred=T;PROVEAN_score=-3.2;PROVEAN_pred=D;VEST3_score=0.286;CADD_raw=2.294;CADD_phred=18.13;DANN_score=0.867;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.884;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.03;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.940;SiPhy_29way_logOdds=11.788;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2315;gnomAD_exome_AFR=0.3361;gnomAD_exome_AMR=0.1861;gnomAD_exome_ASJ=0.2291;gnomAD_exome_EAS=0.6121;gnomAD_exome_FIN=0.1718;gnomAD_exome_NFE=0.1655;gnomAD_exome_OTH=0.2071;gnomAD_exome_SAS=0.3033;gnomAD_genome_ALL=0.2424;gnomAD_genome_AFR=0.3362;gnomAD_genome_AMR=0.2093;gnomAD_genome_ASJ=0.1788;gnomAD_genome_EAS=0.6087;gnomAD_genome_FIN=0.1607;gnomAD_genome_NFE=0.1745;gnomAD_genome_OTH=0.1990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-663.206,0,-716.234:745:372:355:10299:10955 . . . 0/1:-677.157,0,-902.36:856:458:381:11079:13529 . . . . . . 1/1:-1502.95,-178.289,0:687:8:656:18093:244 0/1:-664.576,0,-509.512:647:285:342:9993:8191 . . . . . . 0/1:-752.972,0,-993.629:949:506:422:12319:14990 0/1:-588.989,0,-640.097:699:344:342:9326:10118 . . 0/1:-1025.23,0,-1150.32:1192:599:565:16129:17489 . . . . . 0/1:-829.761,0,-1092.83:1044:547:468:13347:16389 . . . . 0/1:-889.597,0,-820.425:933:435:481:13801:12821 . . . 0/1:-697.66,0,-836.378:835:429:391:11101:12752 0/1:-471.83,0,-528.369:545:272:265:7559:8074 . 0/1:-1094.71,0,-1264.98:1250:627:583:17148:18976 0/1:-847.867,0,-914.313:964:478:468:13271:14161 . . 0/1:-1006.63,0,-962.164:1071:507:538:15395:15159 0/1:-607.01,0,-579.121:683:320:339:9607:9311 . 0/1:-966.34,0,-860.588:1012:465:516:14967:13661 . . . . 0/1:-991.101,0,-1152.98:1169:586:556:15684:17578 . 0/1:-515.837,0,-708.897:691:365:310:8587:10882 . . 0/1:-552.384,0,-448.76:579:251:311:8669:7156 0/1:-691.598,0,-1098.75:1000:574:412:11743:16505 . . . . . . . 0/1:-792.716,0,-973.823:967:502:445:12751:14946 . 0/1:-958.199,0,-1190.14:1146:589:528:15165:17866 . . 0/1:-887.287,0,-886.473:965:466:481:13680:13815 0/1:-988.723,0,-922.988:1044:481:534:15132:14526 . . . . . 0/1:-809.888,0,-802.622:922:436:463:12937:12848 . 1/1:-2324.69,-258.347,0:1028:18:986:28014:505 . 0/1:-762.039,0,-771.353:830:395:418:11948:11866 . . . . . 0/1:-988.521,0,-1009.48:954:474:472:14724:14965:474,472 0/1:-1057.92,0,-1044.71:1028:495:520:15868:15569:495,520 . . . . 0/1:-954.615,0,-942.004:913:437:463:14099:13966:437,463 . 1/1:-1877.81,-188.892,0:745:12:722:22024:372:12,722 . 0/1:-736.487,0,-641.152:654:306:334:10675:9627:306,334 . 0/1:-838.697,0,-758.313:767:361:394:12280:11322:361,394 . . . 0/1:-720.502,0,-920.747:804:433:355:11033:13444:433,355 . 0/1:-773.847,0,-803.131:775:390:371:11604:12039:390,371 chr2 179431076 . C G 7450.10 . AB=0.504988;ABP=3.18358;AC=7;AF=0.5;AN=14;AO=405;CIGAR=1X;DP=5556;DPB=802;DPRA=0;EPP=7.51946;EPPR=27.9022;GTI=0;LEN=1;MEANALT=3;MQM=38.163;MQMR=38.8211;NS=1;NUMALT=1;ODDS=1630.51;PAIRED=0.982716;PAIREDR=0.986842;PAO=0;PQA=0;PQR=0;PRO=0;QA=12083;QR=11462;RO=380;RPL=253;RPP=57.7046;RPPR=118.235;RPR=152;RUN=1;SAF=152;SAP=57.7046;SAR=253;SF=0,1;SRF=138;SRP=64.8173;SRR=242;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G52588C:p.D17530H,TTN:NM_133432:exon155:c.G52963C:p.D17655H,TTN:NM_133437:exon155:c.G53164C:p.D17722H,TTN:NM_133378:exon275:c.G72079C:p.D24027H,TTN:NM_001256850:exon276:c.G74860C:p.D24954H,TTN:NM_001267550:exon326:c.G79783C:p.D26595H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0150;esp6500siv2_ea=0.0200;esp6500siv2_all=0.0150;esp6500siv2_ea=0.0200;1000g2015aug_all=0.00738818;avsnp147=rs56307213;Kaviar_AF=0.0144112;Kaviar_AC=2228;Kaviar_AN=154602;ExAC_ALL=0.0148;ExAC_AFR=0.0037;ExAC_AMR=0.0102;ExAC_EAS=0.0001;ExAC_FIN=0.0252;ExAC_NFE=0.0190;ExAC_OTH=0.0189;ExAC_SAS=0.0105;CLNALLELEID=56545;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.59;MutationAssessor_pred=H;FATHMM_score=0.07;FATHMM_pred=T;PROVEAN_score=-5.13;PROVEAN_pred=D;VEST3_score=0.527;CADD_raw=2.573;CADD_phred=19.93;DANN_score=0.870;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=0.121;MetaSVM_pred=D;MetaLR_score=0.377;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.91;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.301;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0146;gnomAD_exome_AFR=0.0036;gnomAD_exome_AMR=0.0102;gnomAD_exome_ASJ=0.0086;gnomAD_exome_EAS=5.806e-05;gnomAD_exome_FIN=0.0220;gnomAD_exome_NFE=0.0198;gnomAD_exome_OTH=0.0165;gnomAD_exome_SAS=0.0107;gnomAD_genome_ALL=0.0158;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0192;gnomAD_genome_NFE=0.0245;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-782.765,0,-735.82:802:380:405:12083:11462 0/1:-779.052,0,-1104.95:958:524:421:12427:16401 . . . . . . . . . . . . 0/1:-623.837,0,-717.283:691:354:329:9836:10766 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-768.747,0,-722.269:814:372:417:12136:11433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-800.61,0,-647.54:783:334:430:12344:10326 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-745.295,0,-648.851:676:316:348:10951:9865:316,348 . 0/1:-913.29,0,-804.94:832:385:430:13557:12203:385,430 . . . . . chr2 179431594 . A G 6816.56 . AB=0.490884;ABP=3.525;AC=1;AF=0.5;AN=2;AO=350;CIGAR=1X;DP=713;DPB=713;DPRA=0;EPP=89.3977;EPPR=21.2057;GTI=0;LEN=1;MEANALT=3;MQM=38.9829;MQMR=38.4713;NS=1;NUMALT=1;ODDS=1564.87;PAIRED=0.977143;PAIREDR=0.988506;PAO=0;PQA=0;PQR=0;PRO=0;QA=10755;QR=10858;RO=348;RPL=130;RPP=53.2644;RPPR=42.9454;RPR=220;RUN=1;SAF=214;SAP=40.7567;SAR=136;SF=0;SRF=189;SRP=8.62618;SRR=159;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T52070C:p.I17357T,TTN:NM_133432:exon155:c.T52445C:p.I17482T,TTN:NM_133437:exon155:c.T52646C:p.I17549T,TTN:NM_133378:exon275:c.T71561C:p.I23854T,TTN:NM_001256850:exon276:c.T74342C:p.I24781T,TTN:NM_001267550:exon326:c.T79265C:p.I26422T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0160;esp6500siv2_ea=0.0207;esp6500siv2_all=0.0160;esp6500siv2_ea=0.0207;1000g2015aug_all=0.0223642;avsnp147=rs3731745;Kaviar_AF=0.0250967;Kaviar_AC=3880;Kaviar_AN=154602;ExAC_ALL=0.0263;ExAC_AFR=0.0037;ExAC_AMR=0.0356;ExAC_EAS=0.0652;ExAC_FIN=0.0525;ExAC_NFE=0.0252;ExAC_OTH=0.0233;ExAC_SAS=0.0068;CLNALLELEID=56538;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.74;MutationAssessor_pred=L;FATHMM_score=0.5;FATHMM_pred=T;PROVEAN_score=-3.58;PROVEAN_pred=D;VEST3_score=0.445;CADD_raw=1.803;CADD_phred=15.00;DANN_score=0.826;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.029;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.58;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=12.393;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0262;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0145;gnomAD_exome_EAS=0.0620;gnomAD_exome_FIN=0.0486;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0257;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0237;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0558;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0236;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-706.936,0,-693.644:713:348:350:10755:10858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179431797 . A T 7607.28 . AB=0.478846;ABP=7.05258;AC=4;AF=0.5;AN=8;AO=498;CIGAR=1X;DP=3226;DPB=1040;DPRA=0;EPP=4.12656;EPPR=13.1384;GTI=0;LEN=1;MEANALT=3;MQM=39.3454;MQMR=40.1045;NS=1;NUMALT=1;ODDS=2133.69;PAIRED=0.977912;PAIREDR=0.994403;PAO=0;PQA=0;PQR=0;PRO=0;QA=14581;QR=16314;RO=536;RPL=221;RPP=16.6845;RPPR=32.9734;RPR=277;RUN=1;SAF=246;SAP=3.16727;SAR=252;SF=0,1;SRF=288;SRP=9.49231;SRR=248;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51867A:p.G17289G,TTN:NM_133432:exon155:c.T52242A:p.G17414G,TTN:NM_133437:exon155:c.T52443A:p.G17481G,TTN:NM_133378:exon275:c.T71358A:p.G23786G,TTN:NM_001256850:exon276:c.T74139A:p.G24713G,TTN:NM_001267550:exon326:c.T79062A:p.G26354G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0505;esp6500siv2_ea=0.0208;esp6500siv2_all=0.0505;esp6500siv2_ea=0.0208;1000g2015aug_all=0.0926518;avsnp147=rs3731744;Kaviar_AF=0.0441391;Kaviar_AC=6824;Kaviar_AN=154602;ExAC_ALL=0.0460;ExAC_AFR=0.1239;ExAC_AMR=0.0312;ExAC_EAS=0.1713;ExAC_FIN=0.0172;ExAC_NFE=0.0222;ExAC_OTH=0.05;ExAC_SAS=0.0523;CLNALLELEID=56535;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0453;gnomAD_exome_AFR=0.1239;gnomAD_exome_AMR=0.0336;gnomAD_exome_ASJ=0.0418;gnomAD_exome_EAS=0.1814;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0209;gnomAD_exome_OTH=0.0414;gnomAD_exome_SAS=0.0508;gnomAD_genome_ALL=0.0583;gnomAD_genome_AFR=0.1291;gnomAD_genome_AMR=0.0383;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1662;gnomAD_genome_FIN=0.0143;gnomAD_genome_NFE=0.0197;gnomAD_genome_OTH=0.0234;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-936.395,0,-1095.37:1040:536:498:14581:16314 . . . . . . . . . . . . 0/1:-467.576,0,-560.959:545:284:252:7388:8556 . . . . . . . . 0/1:-954.622,0,-938.44:980:468:495:14546:14301 . . . . . . . . . . . . . . . . . . . . . 0/1:-708.5,0,-690.992:661:321:338:10528:10246:321,338 . . . . . . . . . . . . . . . . . . chr2 179432185 . A G 14084.65 . AB=0.520796;ABP=7.16476;AC=58;AF=0.5;AN=98;AO=576;CIGAR=1X;DP=53865;DPB=1106;DPRA=0;EPP=307.077;EPPR=158.035;GTI=0;LEN=1;MEANALT=3;MQM=38.8559;MQMR=38.9824;NS=1;NUMALT=1;ODDS=2275.01;PAIRED=0.96875;PAIREDR=0.964775;PAO=0;PQA=0;PQR=0;PRO=0;QA=17724;QR=15888;RO=511;RPL=311;RPP=10.9874;RPPR=5.66621;RPR=265;RUN=1;SAF=229;SAP=55.5026;SAR=347;SF=0,1;SRF=246;SRP=4.54435;SRR=265;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51479C:p.I17160T,TTN:NM_133432:exon155:c.T51854C:p.I17285T,TTN:NM_133437:exon155:c.T52055C:p.I17352T,TTN:NM_133378:exon275:c.T70970C:p.I23657T,TTN:NM_001256850:exon276:c.T73751C:p.I24584T,TTN:NM_001267550:exon326:c.T78674C:p.I26225T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2259;esp6500siv2_ea=0.3030;esp6500siv2_all=0.2259;esp6500siv2_ea=0.3030;1000g2015aug_all=0.129992;avsnp147=rs12463674;Kaviar_AF=0.23653;Kaviar_AC=36568;Kaviar_AN=154602;ExAC_ALL=0.2368;ExAC_AFR=0.0471;ExAC_AMR=0.0980;ExAC_EAS=0.0444;ExAC_FIN=0.3982;ExAC_NFE=0.3013;ExAC_OTH=0.2539;ExAC_SAS=0.2201;CLNALLELEID=56532;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.801;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.192;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.34;MutationAssessor_pred=M;FATHMM_score=-0.64;FATHMM_pred=T;PROVEAN_score=-2.95;PROVEAN_pred=D;VEST3_score=0.626;CADD_raw=3.368;CADD_phred=22.9;DANN_score=0.923;fathmm-MKL_coding_score=0.928;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=5.65;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.874;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2352;gnomAD_exome_AFR=0.0466;gnomAD_exome_AMR=0.1106;gnomAD_exome_ASJ=0.2114;gnomAD_exome_EAS=0.0450;gnomAD_exome_FIN=0.3816;gnomAD_exome_NFE=0.3052;gnomAD_exome_OTH=0.2328;gnomAD_exome_SAS=0.2201;gnomAD_genome_ALL=0.2338;gnomAD_genome_AFR=0.0524;gnomAD_genome_AMR=0.1319;gnomAD_genome_ASJ=0.2020;gnomAD_genome_EAS=0.0502;gnomAD_genome_FIN=0.3898;gnomAD_genome_NFE=0.3241;gnomAD_genome_OTH=0.3051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1171.73,0,-1012.41:1106:511:576:17724:15888 . 0/1:-1135.47,0,-1154.32:1140:556:561:17181:17404 . 0/1:-1170.42,0,-1107.82:1178:560:593:18017:17254 . . . . . . . 0/1:-1109.37,0,-988.009:1063:503:548:16655:15341 . . 1/1:-4222.67,-437.4,0:1676:22:1634:50314:693 . . 0/1:-1160.1,0,-935.445:1065:475:568:17405:14657 . . . 0/1:-754.451,0,-711.667:763:367:384:11576:11227 . 0/1:-1420.93,0,-1168.7:1286:581:682:21262:18191 . 1/1:-3022.09,-304.516,0:1194:18:1159:36144:563 . . . . . 0/1:-1556.31,0,-1127.69:1338:574:751:22976:17932 0/1:-359.521,0,-209.424:291:110:174:5266:3405 . 0/1:-1491.94,0,-1184.96:1320:593:708:22032:18422 . 0/1:-1245.58,0,-1161.63:1219:587:614:18930:17976 . 0/1:-442.335,0,-428.229:439:214:214:6715:6517 . . . . 0/1:-1524.25,0,-1529.93:1511:739:744:23168:23144 1/1:-3025.83,-301.288,0:1221:23:1179:36237:721 . . 0/1:-1154.91,0,-859.997:1001:434:553:16993:13693 0/1:-1574.93,0,-1209.18:1397:616:754:23402:19008 . 0/1:-1121.24,0,-1067.35:1117:525:565:17447:16581 0/1:-1578.05,0,-1499.24:1525:726:777:23897:22991 0/1:-1231.6,0,-1269.17:1254:614:619:18694:19117 0/1:-1020.47,0,-792.824:952:416:518:15451:12652 . . 1/1:-1711.26,-176.089,0:700:15:678:20808:388 1/1:-2264.6,-237.959,0:910:12:879:27264:343 . 0/1:-888.847,0,-633.24:801:336:443:13551:10361 0/1:-1520.58,0,-1251.92:1385:637:727:22448:19510 . 0/1:-815.409,0,-811.618:842:410:413:12642:12693 . 0/1:-1111.3,0,-1175.14:1148:564:557:17030:17777 . . 0/1:-1103.48,0,-953.762:1017:471:528:16655:14766 1/1:-3173.13,-328.76,0:1288:22:1247:38242:680 0/1:-1213.89,0,-1048.55:1118:527:579:18235:16184 0/1:-1496.45,0,-1453.95:1428:698:712:22539:21925 . . 0/1:-1251.48,0,-888.014:1057:457:583:18344:14111 . . 0/1:-1517.88,0,-1352.42:1428:683:722:22844:21191 . 0/1:-685.933,0,-743.493:750:371:357:10541:11387 . . . . 1/1:-2649.74,-254.494,0:1098:25:1055:32462:800 1/1:-2773.38,-293.649,0:1107:14:1080:33104:408 1/1:-2166.66,-206.353,0:879:21:850:26372:656 . 0/1:-802.217,0,-643.222:721:324:386:11814:10074 . . 0/1:-1052.57,0,-883.738:993:451:516:15931:13925 0/1:-1393.21,0,-1427.29:1416:701:691:21453:21747 0/1:-1361.74,0,-1120.57:1231:553:654:20280:17437 . . . . 0/1:-1365.68,0,-1313.26:1253:609:637:20068:19425:609,637 0/1:-658.554,0,-640.388:629:308:314:9742:9567:308,314 . 0/1:-1546.61,0,-1334.96:1404:648:731:22776:20212:648,731 0/1:-1036.04,0,-1028.66:993:484:495:15335:15242:484,495 0/1:-1250.02,0,-1200.21:1148:557:580:18362:17824:557,580 0/1:-1226.13,0,-992.638:1067:484:571:17911:15133:484,571 . . . . 0/1:-1034.54,0,-1069.38:998:497:487:15405:15795:497,487 . . . . . . chr2 179432627 . T C 5430.57 . AB=0.517179;ABP=4.42784;AC=1;AF=0.5;AN=2;AO=286;CIGAR=1X;DP=553;DPB=553;DPRA=0;EPP=44.5872;EPPR=57.5966;GTI=0;LEN=1;MEANALT=3;MQM=39.7238;MQMR=40.5441;NS=1;NUMALT=1;ODDS=1181.76;PAIRED=0.947552;PAIREDR=0.969349;PAO=0;PQA=0;PQR=0;PRO=0;QA=8641;QR=8297;RO=261;RPL=228;RPP=222.435;RPPR=240.633;RPR=58;RUN=1;SAF=146;SAP=3.28363;SAR=140;SF=1;SRF=133;SRP=3.2183;SRR=128;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A51037G:p.K17013E,TTN:NM_133432:exon155:c.A51412G:p.K17138E,TTN:NM_133437:exon155:c.A51613G:p.K17205E,TTN:NM_133378:exon275:c.A70528G:p.K23510E,TTN:NM_001256850:exon276:c.A73309G:p.K24437E,TTN:NM_001267550:exon326:c.A78232G:p.K26078E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.301;SIFT_pred=T;Polyphen2_HDIV_score=0.952;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.368;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.16;MutationAssessor_pred=L;FATHMM_score=0.79;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_pred=N;VEST3_score=0.504;CADD_raw=2.073;CADD_phred=16.68;DANN_score=0.935;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.917;MetaSVM_pred=T;MetaLR_score=0.118;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.967;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.74;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-578.337,0,-552.086:553:261:286:8641:8297:261,286 chr2 179433221 . T C 8548.41 . AB=0.475;ABP=8.87328;AC=1;AF=0.5;AN=2;AO=513;CIGAR=1X;DP=1080;DPB=1080;DPRA=0;EPP=228.882;EPPR=260.837;GTI=0;LEN=1;MEANALT=3;MQM=38.7836;MQMR=39.1795;NS=1;NUMALT=1;ODDS=1968.34;PAIRED=0.984405;PAIREDR=0.988417;PAO=0;PQA=0;PQR=0;PRO=0;QA=14064;QR=15124;RO=518;RPL=301;RPP=36.539;RPPR=15.2343;RPR=212;RUN=1;SAF=298;SAP=32.1707;SAR=215;SF=0;SRF=335;SRP=99.863;SRR=183;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A50443G:p.T16815A,TTN:NM_133432:exon155:c.A50818G:p.T16940A,TTN:NM_133437:exon155:c.A51019G:p.T17007A,TTN:NM_133378:exon275:c.A69934G:p.T23312A,TTN:NM_001256850:exon276:c.A72715G:p.T24239A,TTN:NM_001267550:exon326:c.A77638G:p.T25880A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0160;esp6500siv2_ea=0.0209;esp6500siv2_all=0.0160;esp6500siv2_ea=0.0209;1000g2015aug_all=0.0223642;avsnp147=rs56018860;Kaviar_AF=0.0250902;Kaviar_AC=3879;Kaviar_AN=154602;ExAC_ALL=0.0262;ExAC_AFR=0.0037;ExAC_AMR=0.0356;ExAC_EAS=0.0652;ExAC_FIN=0.0526;ExAC_NFE=0.0251;ExAC_OTH=0.0234;ExAC_SAS=0.0068;CLNALLELEID=56524;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.304;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_pred=N;MutationAssessor_score=1.895;MutationAssessor_pred=L;FATHMM_score=-0.4;FATHMM_pred=T;PROVEAN_score=-2.27;PROVEAN_pred=N;VEST3_score=0.18;CADD_raw=0.167;CADD_phred=4.328;DANN_score=0.790;fathmm-MKL_coding_score=0.642;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.950;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=-1.14;phyloP7way_vertebrate=0.015;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.111;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=4.672;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0262;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0145;gnomAD_exome_EAS=0.0620;gnomAD_exome_FIN=0.0486;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0257;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0238;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0578;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0236;gnomAD_genome_OTH=0.0327;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-892.469,0,-975.336:1080:518:513:14064:15124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179433580 . T C 8618.32 . AB=0.418644;ABP=70.8486;AC=1;AF=0.5;AN=2;AO=494;CIGAR=1X;DP=1180;DPB=1180;DPRA=0;EPP=13.9995;EPPR=15.775;GTI=0;LEN=1;MEANALT=3;MQM=38.6356;MQMR=38.9305;NS=1;NUMALT=1;ODDS=1984.44;PAIRED=0.981781;PAIREDR=0.982622;PAO=0;PQA=0;PQR=0;PRO=0;QA=14417;QR=17959;RO=633;RPL=281;RPP=23.336;RPPR=45.2768;RPR=213;RUN=1;SAF=175;SAP=94.1594;SAR=319;SF=0;SRF=221;SRP=128.156;SRR=412;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A50084G:p.N16695S,TTN:NM_133432:exon155:c.A50459G:p.N16820S,TTN:NM_133437:exon155:c.A50660G:p.N16887S,TTN:NM_133378:exon275:c.A69575G:p.N23192S,TTN:NM_001256850:exon276:c.A72356G:p.N24119S,TTN:NM_001267550:exon326:c.A77279G:p.N25760S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0206;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0206;1000g2015aug_all=0.0223642;avsnp147=rs3813246;Kaviar_AF=0.0253166;Kaviar_AC=3914;Kaviar_AN=154602;ExAC_ALL=0.0262;ExAC_AFR=0.0037;ExAC_AMR=0.0355;ExAC_EAS=0.0652;ExAC_FIN=0.0525;ExAC_NFE=0.0251;ExAC_OTH=0.0233;ExAC_SAS=0.0068;CLNALLELEID=56521;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.2;SIFT_pred=T;Polyphen2_HDIV_score=0.374;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.132;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.23;MutationAssessor_pred=L;FATHMM_score=0.32;FATHMM_pred=T;PROVEAN_score=-3.0;PROVEAN_pred=D;VEST3_score=0.082;CADD_raw=0.998;CADD_phred=10.65;DANN_score=0.864;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.041;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=5.83;phyloP7way_vertebrate=0.042;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.189;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0262;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0144;gnomAD_exome_EAS=0.0620;gnomAD_exome_FIN=0.0490;gnomAD_exome_NFE=0.0233;gnomAD_exome_OTH=0.0255;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0237;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0252;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0573;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0235;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-885.883,0,-1179.12:1180:633:494:14417:17959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179433643 . G C 6606.76 . AB=0.472222;ABP=8.31834;AC=1;AF=0.5;AN=2;AO=374;CIGAR=1X;DP=792;DPB=792;DPRA=0;EPP=120.084;EPPR=82.2265;GTI=0;LEN=1;MEANALT=3;MQM=37.139;MQMR=38.9436;NS=1;NUMALT=1;ODDS=1521.26;PAIRED=0.975936;PAIREDR=0.982843;PAO=0;PQA=0;PQR=0;PRO=0;QA=11186;QR=12604;RO=408;RPL=161;RPP=18.7099;RPPR=38.797;RPR=213;RUN=1;SAF=189;SAP=3.1032;SAR=185;SF=0;SRF=208;SRP=3.35092;SRR=200;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C50021G:p.A16674G,TTN:NM_133432:exon155:c.C50396G:p.A16799G,TTN:NM_133437:exon155:c.C50597G:p.A16866G,TTN:NM_133378:exon275:c.C69512G:p.A23171G,TTN:NM_001256850:exon276:c.C72293G:p.A24098G,TTN:NM_001267550:exon326:c.C77216G:p.A25739G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0017;1000g2015aug_all=0.000199681;avsnp147=rs56391938;Kaviar_AF=0.0005821;Kaviar_AC=90;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=8.652e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0011;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189522;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.171;SIFT_pred=T;Polyphen2_HDIV_score=0.946;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.671;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=-0.09;MutationAssessor_pred=N;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-2.72;PROVEAN_pred=D;VEST3_score=0.238;CADD_raw=2.178;CADD_phred=17.37;DANN_score=0.876;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.845;MetaSVM_pred=T;MetaLR_score=0.125;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.111;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.51e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-682.248,0,-832.015:792:408:374:11186:12604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179434137 . A G 7461.42 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=392;CIGAR=1X;DP=784;DPB=784;DPRA=0;EPP=4.80509;EPPR=19.1898;GTI=0;LEN=1;MEANALT=3;MQM=38.801;MQMR=39.8223;NS=1;NUMALT=1;ODDS=1718.05;PAIRED=0.971939;PAIREDR=0.984085;PAO=0;PQA=0;PQR=0;PRO=0;QA=11533;QR=11717;RO=377;RPL=194;RPP=3.09893;RPPR=5.08961;RPR=198;RUN=1;SAF=201;SAP=3.56425;SAR=191;SF=0;SRF=203;SRP=7.85435;SRR=174;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T49527C:p.Y16509Y,TTN:NM_133432:exon155:c.T49902C:p.Y16634Y,TTN:NM_133437:exon155:c.T50103C:p.Y16701Y,TTN:NM_133378:exon275:c.T69018C:p.Y23006Y,TTN:NM_001256850:exon276:c.T71799C:p.Y23933Y,TTN:NM_001267550:exon326:c.T76722C:p.Y25574Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0036;1000g2015aug_all=0.000399361;avsnp147=rs55696153;Kaviar_AF=0.0023544;Kaviar_AC=364;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0012;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0038;ExAC_OTH=0.0011;ExAC_SAS=0.0004;CLNALLELEID=56515;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-754.174,0,-769.088:784:377:392:11533:11717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179434139 . A G 8224.24 . AB=0.455882;ABP=19.1047;AC=1;AF=0.5;AN=2;AO=434;CIGAR=1X;DP=952;DPB=952;DPRA=0;EPP=17.6002;EPPR=11.0889;GTI=0;LEN=1;MEANALT=3;MQM=39.3226;MQMR=39.0181;NS=1;NUMALT=1;ODDS=1893.7;PAIRED=0.963134;PAIREDR=0.961771;PAO=0;PQA=0;PQR=0;PRO=0;QA=13004;QR=15402;RO=497;RPL=204;RPP=6.39259;RPPR=3.74869;RPR=230;RUN=1;SAF=210;SAP=3.99096;SAR=224;SF=0;SRF=268;SRP=9.65579;SRR=229;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T49525C:p.Y16509H,TTN:NM_133432:exon155:c.T49900C:p.Y16634H,TTN:NM_133437:exon155:c.T50101C:p.Y16701H,TTN:NM_133378:exon275:c.T69016C:p.Y23006H,TTN:NM_001256850:exon276:c.T71797C:p.Y23933H,TTN:NM_001267550:exon326:c.T76720C:p.Y25574H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0207;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0207;1000g2015aug_all=0.0223642;avsnp147=rs3813245;Kaviar_AF=0.0251355;Kaviar_AC=3886;Kaviar_AN=154602;ExAC_ALL=0.0262;ExAC_AFR=0.0037;ExAC_AMR=0.0357;ExAC_EAS=0.0654;ExAC_FIN=0.0525;ExAC_NFE=0.0251;ExAC_OTH=0.0224;ExAC_SAS=0.0068;CLNALLELEID=56514;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.461;SIFT_pred=T;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.787;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.783;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=1.04;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_pred=D;VEST3_score=0.275;CADD_raw=1.818;CADD_phred=15.09;DANN_score=0.841;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.962;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.54;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=12.334;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0263;gnomAD_exome_AFR=0.0048;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=0.0621;gnomAD_exome_FIN=0.0486;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0257;gnomAD_exome_SAS=0.0062;gnomAD_genome_ALL=0.0237;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0574;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0235;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-833.079,0,-1018.94:952:497:434:13004:15402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179434234 . ACT AT 5972.23 . AB=0.45023;ABP=17.06;AC=2;AF=0.5;AN=4;AO=294;CIGAR=1M1D1M;DP=1672;DPB=562;DPRA=0;EPP=27.8567;EPPR=5.0952;GTI=0;LEN=1;MEANALT=14;MQM=38.3163;MQMR=39.4784;NS=1;NUMALT=1;ODDS=1090.71;PAIRED=0.969388;PAIREDR=0.936877;PAO=7.5;PQA=121;PQR=201;PRO=10.5;QA=7765;QR=9090;RO=301;RPL=166;RPP=13.6756;RPPR=7.51917;RPR=128;RUN=1;SAF=142;SAP=3.7489;SAR=152;SF=0;SRF=143;SRP=4.63349;SRR=158;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TTN:NM_003319:exon154:c.49429delG:p.V16477fs,TTN:NM_133432:exon155:c.49804delG:p.V16602fs,TTN:NM_133437:exon155:c.50005delG:p.V16669fs,TTN:NM_133378:exon275:c.68920delG:p.V22974fs,TTN:NM_001256850:exon276:c.71701delG:p.V23901fs,TTN:NM_001267550:exon326:c.76624delG:p.V25542fs;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-484.82,0,-605.941:653:301:294:7765:9090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-733.72,0,-981.179:1019:484:451:11971:14741 . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179434516 . C T 7978.99 . AB=0.49456;ABP=3.27019;AC=4;AF=0.5;AN=8;AO=500;CIGAR=1X;DP=3510;DPB=1011;DPRA=0;EPP=9.28151;EPPR=5.12924;GTI=0;LEN=1;MEANALT=3;MQM=39.072;MQMR=38.9012;NS=1;NUMALT=1;ODDS=2192.18;PAIRED=0.986;PAIREDR=0.977823;PAO=0;PQA=0;PQR=0;PRO=0;QA=14846;QR=15590;RO=496;RPL=255;RPP=3.44459;RPPR=26.9841;RPR=245;RUN=1;SAF=202;SAP=43.0349;SAR=298;SF=0,1;SRF=206;SRP=33.9012;SRR=290;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G49148A:p.S16383N,TTN:NM_133432:exon155:c.G49523A:p.S16508N,TTN:NM_133437:exon155:c.G49724A:p.S16575N,TTN:NM_133378:exon275:c.G68639A:p.S22880N,TTN:NM_001256850:exon276:c.G71420A:p.S23807N,TTN:NM_001267550:exon326:c.G76343A:p.S25448N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0202;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0202;1000g2015aug_all=0.0792732;avsnp147=rs3813243;Kaviar_AF=0.0397602;Kaviar_AC=6147;Kaviar_AN=154602;ExAC_ALL=0.0413;ExAC_AFR=0.0706;ExAC_AMR=0.0299;ExAC_EAS=0.1699;ExAC_FIN=0.0173;ExAC_NFE=0.0222;ExAC_OTH=0.0459;ExAC_SAS=0.0518;CLNALLELEID=56512;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.265;SIFT_pred=T;Polyphen2_HDIV_score=0.801;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.265;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.081;MutationTaster_pred=P;MutationAssessor_score=0.525;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_pred=N;VEST3_score=0.089;CADD_raw=2.413;CADD_phred=18.91;DANN_score=0.815;fathmm-MKL_coding_score=0.883;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.107;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.92;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.308;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0413;gnomAD_exome_AFR=0.0700;gnomAD_exome_AMR=0.0314;gnomAD_exome_ASJ=0.0420;gnomAD_exome_EAS=0.1797;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0208;gnomAD_exome_OTH=0.0389;gnomAD_exome_SAS=0.0501;gnomAD_genome_ALL=0.0418;gnomAD_genome_AFR=0.0727;gnomAD_genome_AMR=0.0358;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1635;gnomAD_genome_FIN=0.0143;gnomAD_genome_NFE=0.0193;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-964.686,0,-1005.78:1011:496:500:14846:15590 . . . . . . . . . . . . 0/1:-484.203,0,-593.072:565:293:267:7854:9076 . . . . . . . . 0/1:-849.206,0,-942.331:953:475:455:13358:14623 . . . . . . . . . . . . . . . . . . . . . 0/1:-1017.9,0,-1015.08:981:471:496:15222:15251:471,496 . . . . . . . . . . . . . . . . . . chr2 179434571 . T C 7737.19 . AB=0.479953;ABP=5.97047;AC=1;AF=0.5;AN=2;AO=407;CIGAR=1X;DP=848;DPB=848;DPRA=0;EPP=170.16;EPPR=7.51335;GTI=0;LEN=1;MEANALT=2;MQM=38.1204;MQMR=39.2972;NS=1;NUMALT=1;ODDS=1781.55;PAIRED=0.977887;PAIREDR=0.963134;PAO=0;PQA=0;PQR=0;PRO=0;QA=12754;QR=13603;RO=434;RPL=265;RPP=83.7283;RPPR=68.0344;RPR=142;RUN=1;SAF=165;SAP=34.6434;SAR=242;SF=0;SRF=162;SRP=63.5514;SRR=272;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A49093G:p.I16365V,TTN:NM_133432:exon155:c.A49468G:p.I16490V,TTN:NM_133437:exon155:c.A49669G:p.I16557V,TTN:NM_133378:exon275:c.A68584G:p.I22862V,TTN:NM_001256850:exon276:c.A71365G:p.I23789V,TTN:NM_001267550:exon326:c.A76288G:p.I25430V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756888687;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.305e-06;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.284;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.993;MutationTaster_pred=D;MutationAssessor_score=0.91;MutationAssessor_pred=L;FATHMM_score=0.47;FATHMM_pred=T;PROVEAN_score=-0.56;PROVEAN_pred=N;VEST3_score=0.165;CADD_raw=0.853;CADD_phred=9.789;DANN_score=0.854;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.967;MetaSVM_pred=T;MetaLR_score=0.114;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.963;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.373;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.149e-06;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=2.983e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.235e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-810.271,0,-900.438:848:434:407:12754:13603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179435332 . C T 6181.41 . AB=0.506024;ABP=3.2196;AC=1;AF=0.5;AN=2;AO=336;CIGAR=1X;DP=664;DPB=664;DPRA=0;EPP=14.4105;EPPR=11.9728;GTI=0;LEN=1;MEANALT=3;MQM=38.2708;MQMR=38.793;NS=1;NUMALT=1;ODDS=1390.75;PAIRED=0.970238;PAIREDR=0.968153;PAO=0;PQA=0;PQR=0;PRO=0;QA=9868;QR=9647;RO=314;RPL=228;RPP=96.0734;RPPR=72.1655;RPR=108;RUN=1;SAF=167;SAP=3.03615;SAR=169;SF=0;SRF=136;SRP=15.2093;SRR=178;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G48332A:p.R16111H,TTN:NM_133432:exon155:c.G48707A:p.R16236H,TTN:NM_133437:exon155:c.G48908A:p.R16303H,TTN:NM_133378:exon275:c.G67823A:p.R22608H,TTN:NM_001256850:exon276:c.G70604A:p.R23535H,TTN:NM_001267550:exon326:c.G75527A:p.R25176H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs375693396;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=8.316e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=268703;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.205;MutationAssessor_pred=M;FATHMM_score=0.9;FATHMM_pred=T;PROVEAN_score=-3.41;PROVEAN_pred=D;VEST3_score=0.37;CADD_raw=3.593;CADD_phred=23.2;DANN_score=0.885;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.183;MetaSVM_pred=T;MetaLR_score=0.364;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.57;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.971;phastCons20way_mammalian=0.743;SiPhy_29way_logOdds=19.928;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.544e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.47e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-636.519,0,-620.829:664:314:336:9868:9647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179435337 . T G 9116.34 . AB=0.483568;ABP=5.508;AC=9;AF=0.5;AN=16;AO=515;CIGAR=1X;DP=7154;DPB=1065;DPRA=0;EPP=26.7278;EPPR=79.992;GTI=0;LEN=1;MEANALT=3;MQM=38.3087;MQMR=38.9413;NS=1;NUMALT=1;ODDS=2121.91;PAIRED=0.980583;PAIREDR=0.977982;PAO=0;PQA=0;PQR=0;PRO=0;QA=14789;QR=16667;RO=545;RPL=283;RPP=13.9773;RPPR=25.4223;RPR=232;RUN=1;SAF=261;SAP=3.21691;SAR=254;SF=0,1;SRF=267;SRP=3.49241;SRR=278;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A48327C:p.A16109A,TTN:NM_133432:exon155:c.A48702C:p.A16234A,TTN:NM_133437:exon155:c.A48903C:p.A16301A,TTN:NM_133378:exon275:c.A67818C:p.A22606A,TTN:NM_001256850:exon276:c.A70599C:p.A23533A,TTN:NM_001267550:exon326:c.A75522C:p.A25174A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0904;esp6500siv2_ea=0.0327;esp6500siv2_all=0.0904;esp6500siv2_ea=0.0327;1000g2015aug_all=0.143171;avsnp147=rs6732060;Kaviar_AF=0.0841645;Kaviar_AC=13012;Kaviar_AN=154602;ExAC_ALL=0.0884;ExAC_AFR=0.2244;ExAC_AMR=0.2086;ExAC_EAS=0.0258;ExAC_FIN=0.0592;ExAC_NFE=0.0351;ExAC_OTH=0.0813;ExAC_SAS=0.1830;CLNALLELEID=56504;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0916;gnomAD_exome_AFR=0.2213;gnomAD_exome_AMR=0.2093;gnomAD_exome_ASJ=0.0360;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0581;gnomAD_exome_NFE=0.0353;gnomAD_exome_OTH=0.0749;gnomAD_exome_SAS=0.1829;gnomAD_genome_ALL=0.0896;gnomAD_genome_AFR=0.2119;gnomAD_genome_AMR=0.1826;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0281;gnomAD_genome_FIN=0.0532;gnomAD_genome_NFE=0.0307;gnomAD_genome_OTH=0.0704;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-933.182,0,-1095.16:1065:545:515:14789:16667 . . . . 0/1:-799.793,0,-888.543:929:463:458:12838:13927 . . . . . . . . . . . . . . . . . . . . . . 0/1:-249.079,0,-353.195:332:178:151:4123:5272 . 1/1:-1979.39,-195.945,0:883:41:838:24075:838 . . . . . 0/1:-426.505,0,-628.394:570:316:251:7089:9613 0/1:-926.96,0,-867.395:967:457:503:14196:13758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1191.97,0,-1338.28:1254:646:600:18119:20023:646,600 0/1:-1042.66,0,-1325.8:1154:623:525:16063:19331:623,525 . . . . . . . . . . . . . . . . . . chr2 179435418 . T C 10912.45 . AB=0.460156;ABP=20.6603;AC=3;AF=0.5;AN=6;AO=589;CIGAR=1X;DP=3289;DPB=1280;DPRA=0;EPP=22.6568;EPPR=5.9272;GTI=0;LEN=1;MEANALT=3;MQM=39.1426;MQMR=40.009;NS=1;NUMALT=1;ODDS=2601.62;PAIRED=0.981324;PAIREDR=0.970149;PAO=0;PQA=0;PQR=0;PRO=0;QA=17854;QR=21323;RO=670;RPL=301;RPP=3.63335;RPPR=4.57895;RPR=288;RUN=1;SAF=290;SAP=3.30892;SAR=299;SF=0,1;SRF=290;SRP=29.2624;SRR=380;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A48246G:p.K16082K,TTN:NM_133432:exon155:c.A48621G:p.K16207K,TTN:NM_133437:exon155:c.A48822G:p.K16274K,TTN:NM_133378:exon275:c.A67737G:p.K22579K,TTN:NM_001256850:exon276:c.A70518G:p.K23506K,TTN:NM_001267550:exon326:c.A75441G:p.K25147K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0059;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0059;1000g2015aug_all=0.00599042;avsnp147=rs56151652;Kaviar_AF=0.0060737;Kaviar_AC=939;Kaviar_AN=154602;ExAC_ALL=0.0064;ExAC_AFR=0.0014;ExAC_AMR=0.0013;ExAC_EAS=0.0001;ExAC_FIN=0.0011;ExAC_NFE=0.0054;ExAC_OTH=0.0056;ExAC_SAS=0.0223;CLNALLELEID=56503;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0060;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0057;gnomAD_exome_OTH=0.0059;gnomAD_exome_SAS=0.0227;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0059;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1141.16,0,-1444.88:1280:670:589:17854:21323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1124.34,0,-990.381:1091:500:570:17054:15590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-963.506,0,-944.724:918:438:457:14392:14080:438,457 . . . . . chr2 179436020 . G A 9762.58 . AB=0.452632;ABP=21.525;AC=34;AF=0.5;AN=62;AO=430;CIGAR=1X;DP=28000;DPB=950;DPRA=0;EPP=14.6454;EPPR=22.5448;GTI=0;LEN=1;MEANALT=3;MQM=39.0791;MQMR=38.9719;NS=1;NUMALT=1;ODDS=1833.06;PAIRED=0.981395;PAIREDR=0.961924;PAO=0;PQA=0;PQR=0;PRO=0;QA=12821;QR=15028;RO=499;RPL=249;RPP=26.3612;RPPR=34.451;RPR=181;RUN=1;SAF=176;SAP=33.7341;SAR=254;SF=0,1;SRF=222;SRP=16.174;SRR=277;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C47644T:p.R15882C,TTN:NM_133432:exon155:c.C48019T:p.R16007C,TTN:NM_133437:exon155:c.C48220T:p.R16074C,TTN:NM_133378:exon275:c.C67135T:p.R22379C,TTN:NM_001256850:exon276:c.C69916T:p.R23306C,TTN:NM_001267550:exon326:c.C74839T:p.R24947C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1221;esp6500siv2_ea=0.1442;esp6500siv2_all=0.1221;esp6500siv2_ea=0.1442;1000g2015aug_all=0.208067;avsnp147=rs744426;Kaviar_AF=0.169823;Kaviar_AC=26255;Kaviar_AN=154602;ExAC_ALL=0.1746;ExAC_AFR=0.0675;ExAC_AMR=0.1489;ExAC_EAS=0.4325;ExAC_FIN=0.1477;ExAC_NFE=0.1448;ExAC_OTH=0.17;ExAC_SAS=0.2541;CLNALLELEID=56494;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.877;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_pred=T;PROVEAN_score=-5.2;PROVEAN_pred=D;VEST3_score=0.449;CADD_raw=3.394;CADD_phred=23.0;DANN_score=0.854;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.982;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=4.5;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.659;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1748;gnomAD_exome_AFR=0.0703;gnomAD_exome_AMR=0.1457;gnomAD_exome_ASJ=0.1673;gnomAD_exome_EAS=0.4282;gnomAD_exome_FIN=0.1519;gnomAD_exome_NFE=0.1436;gnomAD_exome_OTH=0.1581;gnomAD_exome_SAS=0.2517;gnomAD_genome_ALL=0.1444;gnomAD_genome_AFR=0.0745;gnomAD_genome_AMR=0.1627;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.4355;gnomAD_genome_FIN=0.1465;gnomAD_genome_NFE=0.1528;gnomAD_genome_OTH=0.1684;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-811.612,0,-997.72:950:499:430:12821:15028 . . . 0/1:-1065.19,0,-1023.32:1063:516:530:16261:15612 . . . . . . 1/1:-1920.21,-218.379,0:785:6:762:22746:174 0/1:-758.266,0,-801.212:829:405:409:12148:12210 . . . . . . 0/1:-1050.24,0,-1101.79:1158:568:566:16337:16976 0/1:-666.577,0,-829.323:801:424:359:10609:12647 . . 0/1:-1336.61,0,-1277.07:1382:665:688:20435:19701 . . . . . 0/1:-1078.62,0,-1082.53:1108:539:549:16639:16424 . . . . 0/1:-863.215,0,-1020.9:983:512:451:13515:15345 . . . 0/1:-1036.6,0,-1217.46:1193:626:548:16375:18530 0/1:-556.471,0,-501.007:555:263:281:8374:7914 . 0/1:-1119.36,0,-1256.68:1233:622:583:17364:18953 0/1:-1095.38,0,-1068.9:1101:530:548:16571:16377 . . . 0/1:-640.619,0,-784.996:776:404:355:10462:11969 . 0/1:-1015.58,0,-1079.91:1086:537:529:15528:16213 . . . . 0/1:-1399.38,0,-1124.24:1394:630:723:21182:18191 . 0/1:-769.211,0,-629.394:730:329:383:11646:9870 . . . 0/1:-1051.18,0,-882.071:1011:451:539:15930:13754 . . . . . . . . . 0/1:-1223,0,-1018.25:1150:514:611:18447:15763 . . 0/1:-1004.35,0,-1250.47:1182:607:545:15984:18564 0/1:-1081.22,0,-1105.58:1144:561:550:16703:16846 . . . . . 0/1:-1166.38,0,-1055.49:1142:540:586:17637:16283 . 1/1:-2536.42,-265.134,0:1072:20:1031:30816:614 . 0/1:-890.438,0,-901.93:946:453:470:14001:13809 . . . . . . 0/1:-470.443,0,-603.461:536:286:243:7335:8920:286,243 . . . . 0/1:-518.228,0,-641.66:542:287:247:7940:9298:287,247 . 1/1:-1085.54,-89.4778,0:445:16:424:13081:487:16,424 . 0/1:-447.49,0,-391.808:409:190:216:6565:5932:190,216 . 0/1:-398.02,0,-528.537:448:242:204:6262:7700:242,204 . . . 0/1:-377.575,0,-512.008:431:234:192:5947:7373:234,192 . 0/1:-382.211,0,-474.106:415:220:191:5851:6935:220,191 chr2 179436323 . C T 10002.30 . AB=0.447257;ABP=31.6426;AC=1;AF=0.5;AN=2;AO=530;CIGAR=1X;DP=1185;DPB=1185;DPRA=0;EPP=14.9575;EPPR=31.1511;GTI=0;LEN=1;MEANALT=3;MQM=40.0566;MQMR=40.41;NS=1;NUMALT=1;ODDS=2303.12;PAIRED=0.966038;PAIREDR=0.974961;PAO=0;PQA=0;PQR=0;PRO=0;QA=15894;QR=20132;RO=639;RPL=298;RPP=20.8573;RPPR=32.4016;RPR=232;RUN=1;SAF=206;SAP=60.0586;SAR=324;SF=1;SRF=269;SRP=37.6757;SRR=370;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G47341A:p.V15781I,TTN:NM_133432:exon155:c.G47716A:p.V15906I,TTN:NM_133437:exon155:c.G47917A:p.V15973I,TTN:NM_133378:exon275:c.G66832A:p.V22278I,TTN:NM_001256850:exon276:c.G69613A:p.V23205I,TTN:NM_001267550:exon326:c.G74536A:p.V24846I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770230639;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.372e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.084e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.35;MutationAssessor_pred=L;FATHMM_score=0.17;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_pred=N;VEST3_score=0.156;CADD_raw=2.702;CADD_phred=20.8;DANN_score=0.872;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.428;MetaSVM_pred=T;MetaLR_score=0.341;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.331;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.195e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.986e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.253e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1019.18,0,-1381.14:1185:639:530:15894:20132:639,530 . . . . . . . . . . . . . . chr2 179436343 . C T 7242.50 . AB=0.431614;ABP=39.2437;AC=1;AF=0.5;AN=2;AO=385;CIGAR=1X;DP=892;DPB=892;DPRA=0;EPP=20.0719;EPPR=24.0661;GTI=0;LEN=1;MEANALT=3;MQM=38.5688;MQMR=39.2485;NS=1;NUMALT=1;ODDS=1667.65;PAIRED=0.963636;PAIREDR=0.971487;PAO=0;PQA=0;PQR=0;PRO=0;QA=11881;QR=15674;RO=491;RPL=228;RPP=31.4425;RPPR=26.5781;RPR=157;RUN=1;SAF=158;SAP=29.8632;SAR=227;SF=0;SRF=216;SRP=18.4052;SRR=275;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G47321A:p.S15774N,TTN:NM_133432:exon155:c.G47696A:p.S15899N,TTN:NM_133437:exon155:c.G47897A:p.S15966N,TTN:NM_133378:exon275:c.G66812A:p.S22271N,TTN:NM_001256850:exon276:c.G69593A:p.S23198N,TTN:NM_001267550:exon326:c.G74516A:p.S24839N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs763157776;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.365e-06;ExAC_AFR=0;ExAC_AMR=8.747e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.078;SIFT_pred=T;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.753;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.38;MutationAssessor_pred=M;FATHMM_score=0.3;FATHMM_pred=T;PROVEAN_score=-2.04;PROVEAN_pred=N;VEST3_score=0.108;CADD_raw=2.617;CADD_phred=20.3;DANN_score=0.854;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.309;MetaSVM_pred=T;MetaLR_score=0.362;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.331;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.229e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.961e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-742.034,0,-1070.96:892:491:385:11881:15674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179436554 . T C 8620.81 . AB=0.491767;ABP=3.54661;AC=1;AF=0.5;AN=2;AO=448;CIGAR=1X;DP=911;DPB=911;DPRA=0;EPP=21.6423;EPPR=27.0832;GTI=0;LEN=1;MEANALT=3;MQM=38.683;MQMR=39.0339;NS=1;NUMALT=1;ODDS=1985.02;PAIRED=0.962054;PAIREDR=0.975113;PAO=0;PQA=0;PQR=0;PRO=0;QA=13526;QR=13895;RO=442;RPL=262;RPP=31.0068;RPPR=29.913;RPR=186;RUN=1;SAF=195;SAP=19.3157;SAR=253;SF=0;SRF=198;SRP=13.4059;SRR=244;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A47110G:p.N15704D,TTN:NM_133432:exon155:c.A47485G:p.N15829D,TTN:NM_133437:exon155:c.A47686G:p.N15896D,TTN:NM_133378:exon275:c.A66601G:p.N22201D,TTN:NM_001256850:exon276:c.A69382G:p.N23128D,TTN:NM_001267550:exon326:c.A74305G:p.N24769D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs372787601;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.657e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=199027;CLNDN=Dilated_cardiomyopathy_1S|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1834481,OMIM:613426|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.042;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.835;MutationTaster_pred=N;MutationAssessor_score=-0.025;MutationAssessor_pred=N;FATHMM_score=-0.22;FATHMM_pred=T;PROVEAN_score=-3.02;PROVEAN_pred=D;VEST3_score=0.146;CADD_raw=2.959;CADD_phred=22.1;DANN_score=0.880;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.837;MetaSVM_pred=T;MetaLR_score=0.162;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=4.89;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.459;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.34e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . 0/1:-876.238,0,-905.347:911:442:448:13526:13895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179437491 . A G 7232.88 . AB=0.502003;ABP=3.03639;AC=2;AF=0.5;AN=4;AO=376;CIGAR=1X;DP=1407;DPB=749;DPRA=0;EPP=8.9241;EPPR=21.9262;GTI=0;LEN=1;MEANALT=3;MQM=40.2899;MQMR=40.7306;NS=1;NUMALT=1;ODDS=1700.06;PAIRED=0.973404;PAIREDR=0.958333;PAO=0;PQA=0;PQR=0;PRO=0;QA=11546;QR=11201;RO=360;RPL=188;RPP=3.0103;RPPR=3.61349;RPR=188;RUN=1;SAF=212;SAP=16.3163;SAR=164;SF=1;SRF=201;SRP=13.6505;SRR=159;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T46173C:p.P15391P,TTN:NM_133432:exon155:c.T46548C:p.P15516P,TTN:NM_133437:exon155:c.T46749C:p.P15583P,TTN:NM_133378:exon275:c.T65664C:p.P21888P,TTN:NM_001256850:exon276:c.T68445C:p.P22815P,TTN:NM_001267550:exon326:c.T73368C:p.P24456P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs373361363;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.659e-05;ExAC_AFR=0;ExAC_AMR=8.657e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=258056;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.631e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.962e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.804e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-777.097,0,-749.083:749:360:376:11546:11201:360,376 . . . . 0/1:-690.891,0,-612.078:658:305:337:10220:9443:305,337 . . . . . . chr2 179437523 . G A 5430.35 . AB=0.459499;ABP=12.6844;AC=2;AF=0.5;AN=4;AO=312;CIGAR=1X;DP=1417;DPB=679;DPRA=0;EPP=8.46682;EPPR=21.4173;GTI=0;LEN=1;MEANALT=3;MQM=36.1795;MQMR=37.4186;NS=1;NUMALT=1;ODDS=1161.47;PAIRED=0.942308;PAIREDR=0.953488;PAO=0;PQA=0;PQR=0;PRO=0;QA=8640;QR=10465;RO=344;RPL=165;RPP=5.26529;RPPR=22.806;RPR=147;RUN=1;SAF=149;SAP=4.37443;SAR=163;SF=0;SRF=147;SRP=18.7913;SRR=197;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C46141T:p.L15381L,TTN:NM_133432:exon155:c.C46516T:p.L15506L,TTN:NM_133437:exon155:c.C46717T:p.L15573L,TTN:NM_133378:exon275:c.C65632T:p.L21878L,TTN:NM_001256850:exon276:c.C68413T:p.L22805L,TTN:NM_001267550:exon326:c.C73336T:p.L24446L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0007;1000g2015aug_all=0.00119808;avsnp147=rs189768015;Kaviar_AF=0.000815;Kaviar_AC=126;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0001;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0011;ExAC_SAS=0.0005;CLNALLELEID=56486;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=6.546e-05;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-513.207,0,-663.424:679:344:312:8640:10465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-591.303,0,-772.669:738:383:345:10042:11838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179438093 . T C 6075.74 . AB=0.452675;ABP=21.9191;AC=2;AF=0.5;AN=4;AO=440;CIGAR=1X;DP=1620;DPB=972;DPRA=0;EPP=3.97759;EPPR=5.8999;GTI=0;LEN=1;MEANALT=3;MQM=37.6068;MQMR=38.2165;NS=1;NUMALT=1;ODDS=1775.85;PAIRED=0.959091;PAIREDR=0.96063;PAO=0;PQA=0;PQR=0;PRO=0;QA=12866;QR=15696;RO=508;RPL=212;RPP=4.2737;RPPR=20.5189;RPR=228;RUN=1;SAF=199;SAP=11.7159;SAR=241;SF=0;SRF=219;SRP=23.9556;SRR=289;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A45571G:p.N15191D,TTN:NM_133432:exon155:c.A45946G:p.N15316D,TTN:NM_133437:exon155:c.A46147G:p.N15383D,TTN:NM_133378:exon275:c.A65062G:p.N21688D,TTN:NM_001256850:exon276:c.A67843G:p.N22615D,TTN:NM_001267550:exon326:c.A72766G:p.N24256D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs187868672;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0013;ExAC_SAS=0;CLNALLELEID=193226;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.343;SIFT_pred=T;Polyphen2_HDIV_score=0.891;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.412;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.995;MutationTaster_pred=D;MutationAssessor_score=1.875;MutationAssessor_pred=L;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_pred=D;VEST3_score=0.284;CADD_raw=1.427;CADD_phred=12.93;DANN_score=0.813;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.819;MetaSVM_pred=T;MetaLR_score=0.166;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.89;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.040;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=4.603e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.465e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0014;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-781.239,0,-1019.01:972:508:440:12866:15696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-453.42,0,-621.761:648:341:285:7905:9824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179438235 . T C 9259.79 . AB=0.504902;ABP=3.22319;AC=1;AF=0.5;AN=2;AO=515;CIGAR=1X;DP=1020;DPB=1020;DPRA=0;EPP=11.5486;EPPR=8.99802;GTI=0;LEN=1;MEANALT=3;MQM=38.4291;MQMR=39.3085;NS=1;NUMALT=1;ODDS=2058.21;PAIRED=0.972816;PAIREDR=0.978723;PAO=0;PQA=0;PQR=0;PRO=0;QA=14648;QR=14140;RO=470;RPL=188;RPP=84.4764;RPPR=20.7702;RPR=327;RUN=1;SAF=248;SAP=4.53244;SAR=267;SF=0;SRF=221;SRP=6.6325;SRR=249;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A45429G:p.P15143P,TTN:NM_133432:exon155:c.A45804G:p.P15268P,TTN:NM_133437:exon155:c.A46005G:p.P15335P,TTN:NM_133378:exon275:c.A64920G:p.P21640P,TTN:NM_001256850:exon276:c.A67701G:p.P22567P,TTN:NM_001267550:exon326:c.A72624G:p.P24208P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs56293906;Kaviar_AF=0.0027943;Kaviar_AC=432;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0001;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0013;ExAC_SAS=0.0241;CLNALLELEID=56481;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0028;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0223;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-943.62,0,-904.951:1020:470:515:14648:14140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179438866 . C T 6909.01 . AB=0.43194;ABP=40.5491;AC=9;AF=0.5;AN=16;AO=403;CIGAR=1X;DP=5144;DPB=933;DPRA=0;EPP=4.56751;EPPR=22.3128;GTI=0;LEN=1;MEANALT=3;MQM=37.6799;MQMR=38.8277;NS=1;NUMALT=1;ODDS=1560.49;PAIRED=0.965261;PAIREDR=0.960396;PAO=0;PQA=0;PQR=0;PRO=0;QA=11408;QR=14509;RO=505;RPL=193;RPP=4.56751;RPPR=4.25298;RPR=210;RUN=1;SAF=218;SAP=8.87812;SAR=185;SF=0,1;SRF=253;SRP=3.0146;SRR=252;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G44798A:p.R14933H,TTN:NM_133432:exon155:c.G45173A:p.R15058H,TTN:NM_133437:exon155:c.G45374A:p.R15125H,TTN:NM_133378:exon275:c.G64289A:p.R21430H,TTN:NM_001256850:exon276:c.G67070A:p.R22357H,TTN:NM_001267550:exon326:c.G71993A:p.R23998H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0478;esp6500siv2_ea=0.0292;esp6500siv2_all=0.0478;esp6500siv2_ea=0.0292;1000g2015aug_all=0.0978435;avsnp147=rs10164753;Kaviar_AF=0.0704842;Kaviar_AC=10897;Kaviar_AN=154602;ExAC_ALL=0.0744;ExAC_AFR=0.0803;ExAC_AMR=0.2019;ExAC_EAS=0.0259;ExAC_FIN=0.0590;ExAC_NFE=0.0326;ExAC_OTH=0.0713;ExAC_SAS=0.1820;CLNALLELEID=56470;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.995;MutationAssessor_pred=H;FATHMM_score=0.67;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_pred=D;VEST3_score=0.648;CADD_raw=4.024;CADD_phred=23.6;DANN_score=0.919;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.659;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.546;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0798;gnomAD_exome_AFR=0.0787;gnomAD_exome_AMR=0.2006;gnomAD_exome_ASJ=0.0306;gnomAD_exome_EAS=0.0275;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0326;gnomAD_exome_OTH=0.0663;gnomAD_exome_SAS=0.1815;gnomAD_genome_ALL=0.0510;gnomAD_genome_AFR=0.0808;gnomAD_genome_AMR=0.1719;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0288;gnomAD_genome_FIN=0.0529;gnomAD_genome_NFE=0.0286;gnomAD_genome_OTH=0.0611;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-688.88,0,-956.633:933:505:403:11408:14509 . . . . 0/1:-525.745,0,-649.37:668:348:298:8538:10263 . . . . . . . . . . . . . . . . . . . . . . 0/1:-276.685,0,-258.817:303:141:155:4340:4116 . 1/1:-1574.08,-183.704,0:683:7:658:19121:186 . . . . . 0/1:-381.986,0,-508.387:490:261:215:6226:7769 0/1:-644.096,0,-498.756:612:263:338:9811:8074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-792.517,0,-701.457:733:339:375:11686:10639:339,375 0/1:-791.167,0,-711.21:722:344:373:11616:10774:344,373 . . . . . . . . . . . . . . . . . . chr2 179439877 . G A 10726.10 . AB=0.466989;ABP=14.7663;AC=1;AF=0.5;AN=2;AO=580;CIGAR=1X;DP=1242;DPB=1242;DPRA=0;EPP=5.54119;EPPR=3.17946;GTI=0;LEN=1;MEANALT=3;MQM=38.8931;MQMR=38.6216;NS=1;NUMALT=1;ODDS=2469.77;PAIRED=0.984483;PAIREDR=0.957075;PAO=0;PQA=0;PQR=0;PRO=0;QA=17108;QR=18645;RO=629;RPL=376;RPP=113.77;RPPR=56.9519;RPR=204;RUN=1;SAF=313;SAP=10.9324;SAR=267;SF=0;SRF=322;SRP=3.78706;SRR=307;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C43787T:p.P14596L,TTN:NM_133432:exon155:c.C44162T:p.P14721L,TTN:NM_133437:exon155:c.C44363T:p.P14788L,TTN:NM_133378:exon275:c.C63278T:p.P21093L,TTN:NM_001256850:exon276:c.C66059T:p.P22020L,TTN:NM_001267550:exon326:c.C70982T:p.P23661L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=391768;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.655;MutationAssessor_pred=H;FATHMM_score=-0.85;FATHMM_pred=T;PROVEAN_score=-7.32;PROVEAN_pred=D;VEST3_score=0.493;CADD_raw=2.456;CADD_phred=19.18;DANN_score=0.754;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=0.654;MetaSVM_pred=D;MetaLR_score=0.715;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.900;SiPhy_29way_logOdds=19.603;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.109e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.09e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1093.39,0,-1202.27:1242:629:580:17108:18645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179440029 . G A 15785.98 . AB=0.468388;ABP=12.7578;AC=53;AF=0.5;AN=88;AO=526;CIGAR=1X;DP=53490;DPB=1123;DPRA=0;EPP=195.619;EPPR=152.562;GTI=0;LEN=1;MEANALT=3;MQM=37.5475;MQMR=38.6678;NS=1;NUMALT=1;ODDS=2260.49;PAIRED=0.95057;PAIREDR=0.944348;PAO=0;PQA=0;PQR=0;PRO=0;QA=16216;QR=18365;RO=575;RPL=211;RPP=47.6617;RPPR=47.8786;RPR=315;RUN=1;SAF=238;SAP=13.331;SAR=288;SF=0,1;SRF=250;SRP=24.253;SRR=325;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C43635T:p.S14545S,TTN:NM_133432:exon155:c.C44010T:p.S14670S,TTN:NM_133437:exon155:c.C44211T:p.S14737S,TTN:NM_133378:exon275:c.C63126T:p.S21042S,TTN:NM_001256850:exon276:c.C65907T:p.S21969S,TTN:NM_001267550:exon326:c.C70830T:p.S23610S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2386;esp6500siv2_ea=0.2975;esp6500siv2_all=0.2386;esp6500siv2_ea=0.2975;1000g2015aug_all=0.146565;avsnp147=rs12464787;Kaviar_AF=0.237216;Kaviar_AC=36674;Kaviar_AN=154602;ExAC_ALL=0.2400;ExAC_AFR=0.1184;ExAC_AMR=0.0989;ExAC_EAS=0.0445;ExAC_FIN=0.3985;ExAC_NFE=0.2979;ExAC_OTH=0.2550;ExAC_SAS=0.2117;CLNALLELEID=56458;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2372;gnomAD_exome_AFR=0.1194;gnomAD_exome_AMR=0.1117;gnomAD_exome_ASJ=0.1998;gnomAD_exome_EAS=0.0448;gnomAD_exome_FIN=0.3818;gnomAD_exome_NFE=0.3020;gnomAD_exome_OTH=0.2326;gnomAD_exome_SAS=0.2141;gnomAD_genome_ALL=0.2523;gnomAD_genome_AFR=0.1225;gnomAD_genome_AMR=0.1348;gnomAD_genome_ASJ=0.1921;gnomAD_genome_EAS=0.0497;gnomAD_genome_FIN=0.3892;gnomAD_genome_NFE=0.3216;gnomAD_genome_OTH=0.3020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1014.81,0,-1205.42:1123:575:526:16216:18365 . 0/1:-1112.61,0,-1187.64:1142:568:560:17552:18498 . 0/1:-1324.69,0,-1198.18:1307:606:671:20747:19288 . . . . . . . 0/1:-1201.86,0,-1073.77:1161:541:602:18655:17286 . . 1/1:-5010.5,-518.471,0:2007:31:1945:60714:964 . . 0/1:-1299.43,0,-1188.24:1242:593:636:19684:18718 . . . 0/1:-669.488,0,-638.21:703:330:362:10935:10302 . 0/1:-1560.64,0,-1334.11:1466:682:769:23907:21409 . 1/1:-3624.45,-362.094,0:1474:29:1425:44384:894 . . . . . . 0/1:-381.627,0,-300.391:358:157:195:5944:4941 . 0/1:-1419.77,0,-1154.82:1333:603:704:21964:18874 . 0/1:-1259.94,0,-1353.34:1278:641:622:19505:20597 . . . . . . 0/1:-1591.41,0,-1424.95:1525:715:784:24470:22676 1/1:-3484.71,-385.74,0:1389:11:1351:41871:274 . . 0/1:-1114.85,0,-933.63:1020:465:537:16911:14590 0/1:-1703.18,0,-1346.27:1521:683:812:25609:21636 . 0/1:-1103.51,0,-973.382:1119:505:592:17888:16004 0/1:-1401.2,0,-1580.7:1476:752:706:22142:24204 0/1:-1756.68,0,-1397.41:1600:709:868:26808:22615 0/1:-943.834,0,-744.98:908:398:494:15051:12440 . . 1/1:-1883.06,-202.036,0:789:11:761:23294:344 1/1:-2595.37,-260.232,0:1055:22:1024:31936:672 . . 0/1:-1557.13,0,-1635.62:1650:825:794:24526:25912 . 0/1:-775.486,0,-734.698:793:373:401:12345:11788 . . . . 0/1:-1254.18,0,-1090.72:1195:549:625:19439:17411 1/1:-3365.33,-321.187,0:1403:36:1346:42126:1086 0/1:-1339.58,0,-1264.54:1332:637:670:20844:20282 0/1:-1724.91,0,-1610.61:1659:788:842:26554:24980 . . 0/1:-1048.84,0,-1032.72:1064:509:545:16874:16249 . . . . 0/1:-762.851,0,-794.11:781:387:384:11980:12301 . . . . 1/1:-3180.56,-317.707,0:1391:38:1311:40647:1102 1/1:-3280.49,-356.957,0:1323:15:1291:40477:423 1/1:-2120.03,-221.541,0:877:14:845:26039:462 . 0/1:-858.003,0,-657.856:772:337:425:13146:10641 . . 0/1:-1249.66,0,-1259.1:1267:618:628:19675:19481 0/1:-1566.8,0,-1642.25:1587:800:771:24050:25676 0/1:-1537.76,0,-1221.5:1420:623:768:23537:19721 . . . . 0/1:-1608.66,0,-1267.68:1372:609:744:23455:19548:609,744 0/1:-731.366,0,-723.25:723:347:362:11013:10940:347,362 . 0/1:-1434.77,0,-1450.23:1389:679:687:21340:21583:679,687 0/1:-1195.35,0,-1177.46:1136:555:570:17828:17733:555,570 0/1:-1380.19,0,-1109.99:1197:538:643:20243:17053:538,643 0/1:-1275.66,0,-972.258:1075:481:585:18685:15102:481,585 . . . . 0/1:-1204.3,0,-1083.68:1088:514:562:17857:16425:514,562 . . . . . . chr2 179440163 . C G 11044.80 . AB=0.464556;ABP=18.8652;AC=2;AF=0.5;AN=4;AO=675;CIGAR=1X;DP=2868;DPB=1453;DPRA=0;EPP=66.9674;EPPR=17.7884;GTI=0;LEN=1;MEANALT=3;MQM=37.3926;MQMR=38.4361;NS=1;NUMALT=1;ODDS=2522.77;PAIRED=0.968889;PAIREDR=0.952778;PAO=0;PQA=0;PQR=0;PRO=0;QA=18266;QR=20655;RO=720;RPL=396;RPP=47.0478;RPPR=26.3657;RPR=279;RUN=1;SAF=373;SAP=19.2272;SAR=302;SF=0;SRF=385;SRP=10.5501;SRR=335;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G43501C:p.G14501R,TTN:NM_133432:exon155:c.G43876C:p.G14626R,TTN:NM_133437:exon155:c.G44077C:p.G14693R,TTN:NM_133378:exon275:c.G62992C:p.G20998R,TTN:NM_001256850:exon276:c.G65773C:p.G21925R,TTN:NM_001267550:exon326:c.G70696C:p.G23566R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0161;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0161;1000g2015aug_all=0.00439297;avsnp147=rs55801134;Kaviar_AF=0.0103039;Kaviar_AC=1593;Kaviar_AN=154602;ExAC_ALL=0.0106;ExAC_AFR=0.0014;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0533;ExAC_NFE=0.0126;ExAC_OTH=0.0111;ExAC_SAS=0.0021;CLNALLELEID=56455;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.58;MutationAssessor_pred=M;FATHMM_score=0.19;FATHMM_pred=T;PROVEAN_score=-5.52;PROVEAN_pred=D;VEST3_score=0.613;CADD_raw=2.942;CADD_phred=22.0;DANN_score=0.950;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.238;MetaSVM_pred=T;MetaLR_score=0.290;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.612;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516173#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0126;gnomAD_exome_EAS=5.824e-05;gnomAD_exome_FIN=0.0516;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0149;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0492;gnomAD_genome_NFE=0.0160;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-1116.63,0,-1312.2:1453:720:675:18266:20655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1135.85,0,-1259.99:1415:698:683:18585:20131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179440182 . A G 9197.94 . AB=0.494624;ABP=3.24379;AC=1;AF=0.5;AN=2;AO=460;CIGAR=1X;DP=930;DPB=930;DPRA=0;EPP=5.29507;EPPR=13.6462;GTI=0;LEN=1;MEANALT=3;MQM=39.05;MQMR=40.2062;NS=1;NUMALT=1;ODDS=2117.9;PAIRED=0.954348;PAIREDR=0.97561;PAO=0;PQA=0;PQR=0;PRO=0;QA=14199;QR=14173;RO=451;RPL=264;RPP=24.8383;RPPR=60.2149;RPR=196;RUN=1;SAF=239;SAP=4.53977;SAR=221;SF=1;SRF=195;SRP=20.9262;SRR=256;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T43482C:p.D14494D,TTN:NM_133432:exon155:c.T43857C:p.D14619D,TTN:NM_133437:exon155:c.T44058C:p.D14686D,TTN:NM_133378:exon275:c.T62973C:p.D20991D,TTN:NM_001256850:exon276:c.T65754C:p.D21918D,TTN:NM_001267550:exon326:c.T70677C:p.D23559D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0051;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0051;1000g2015aug_all=0.000599042;avsnp147=rs72646890;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0004;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0044;ExAC_OTH=0.0011;ExAC_SAS=0.0016;CLNALLELEID=56454;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0043;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0038;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0070;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-929.402,0,-942.605:930:451:460:14199:14173:451,460 . chr2 179440208 . G A 11588.20 . AB=0.50085;ABP=3.01769;AC=1;AF=0.5;AN=2;AO=589;CIGAR=1X;DP=1176;DPB=1176;DPRA=0;EPP=53.4777;EPPR=60.9507;GTI=0;LEN=1;MEANALT=3;MQM=38.292;MQMR=38.5626;NS=1;NUMALT=1;ODDS=2635.74;PAIRED=0.955857;PAIREDR=0.962963;PAO=0;PQA=0;PQR=0;PRO=0;QA=18144;QR=17949;RO=567;RPL=288;RPP=3.63335;RPPR=5.80219;RPR=301;RUN=1;SAF=311;SAP=7.02513;SAR=278;SF=0;SRF=305;SRP=10.0915;SRR=262;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C43456T:p.L14486L,TTN:NM_133432:exon155:c.C43831T:p.L14611L,TTN:NM_133437:exon155:c.C44032T:p.L14678L,TTN:NM_133378:exon275:c.C62947T:p.L20983L,TTN:NM_001256850:exon276:c.C65728T:p.L21910L,TTN:NM_001267550:exon326:c.C70651T:p.L23551L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs72646889;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=102194;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.543e-05;gnomAD_exome_AMR=8.94e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=6.469e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-1172.52,0,-1159.65:1176:567:589:18144:17949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179440629 . G T 8029.54 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=462;CIGAR=1X;DP=924;DPB=924;DPRA=0;EPP=117.393;EPPR=130.53;GTI=0;LEN=1;MEANALT=3;MQM=38.7338;MQMR=38.7751;NS=1;NUMALT=1;ODDS=1721.23;PAIRED=0.971861;PAIREDR=0.973799;PAO=0;PQA=0;PQR=0;PRO=0;QA=12839;QR=12450;RO=458;RPL=270;RPP=31.6061;RPPR=24.9336;RPR=192;RUN=1;SAF=237;SAP=3.68712;SAR=225;SF=0;SRF=256;SRP=16.8357;SRR=202;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C43035A:p.T14345T,TTN:NM_133432:exon155:c.C43410A:p.T14470T,TTN:NM_133437:exon155:c.C43611A:p.T14537T,TTN:NM_133378:exon275:c.C62526A:p.T20842T,TTN:NM_001256850:exon276:c.C65307A:p.T21769T,TTN:NM_001267550:exon326:c.C70230A:p.T23410T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-825.404,0,-771.979:924:458:462:12839:12450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179440876 . G A 6228.07 . AB=0.428571;ABP=42.7172;AC=1;AF=0.5;AN=2;AO=384;CIGAR=1X;DP=896;DPB=896;DPRA=0;EPP=162.614;EPPR=89.5155;GTI=0;LEN=1;MEANALT=3;MQM=38.3776;MQMR=38.0206;NS=1;NUMALT=1;ODDS=1434.07;PAIRED=0.973958;PAIREDR=0.973196;PAO=0;PQA=0;PQR=0;PRO=0;QA=10766;QR=14095;RO=485;RPL=207;RPP=8.09969;RPPR=4.98477;RPR=177;RUN=1;SAF=205;SAP=6.833;SAR=179;SF=0;SRF=256;SRP=6.27422;SRR=229;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C42788T:p.A14263V,TTN:NM_133432:exon155:c.C43163T:p.A14388V,TTN:NM_133437:exon155:c.C43364T:p.A14455V,TTN:NM_133378:exon275:c.C62279T:p.A20760V,TTN:NM_001256850:exon276:c.C65060T:p.A21687V,TTN:NM_001267550:exon326:c.C69983T:p.A23328V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.046;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.495;MutationAssessor_pred=L;FATHMM_score=0.03;FATHMM_pred=T;PROVEAN_score=-2.7;PROVEAN_pred=D;VEST3_score=0.391;CADD_raw=4.578;CADD_phred=24.4;DANN_score=0.976;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.341;MetaSVM_pred=T;MetaLR_score=0.372;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.924;SiPhy_29way_logOdds=20.218;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.041e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.984e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.606e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-650.455,0,-916.729:896:485:384:10766:14095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179441038 . C T 6059.92 . AB=0.471386;ABP=7.7326;AC=2;AF=0.5;AN=4;AO=313;CIGAR=1X;DP=1527;DPB=664;DPRA=0;EPP=4.57126;EPPR=7.51311;GTI=0;LEN=1;MEANALT=3;MQM=38.115;MQMR=38.6012;NS=1;NUMALT=1;ODDS=1295.12;PAIRED=0.961661;PAIREDR=0.984663;PAO=0;PQA=0;PQR=0;PRO=0;QA=9231;QR=10155;RO=326;RPL=127;RPP=27.1601;RPPR=45.6404;RPR=186;RUN=1;SAF=156;SAP=3.01724;SAR=157;SF=0,1;SRF=157;SRP=3.96948;SRR=169;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G42626A:p.G14209D,TTN:NM_133432:exon155:c.G43001A:p.G14334D,TTN:NM_133437:exon155:c.G43202A:p.G14401D,TTN:NM_133378:exon275:c.G62117A:p.G20706D,TTN:NM_001256850:exon276:c.G64898A:p.G21633D,TTN:NM_001267550:exon326:c.G69821A:p.G23274D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;1000g2015aug_all=0.000199681;avsnp147=rs201043950;Kaviar_AF=0.001009;Kaviar_AC=156;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0017;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56442;CLNDN=Inborn_genetic_diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D030342,MedGen:C0950123|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.895;MutationAssessor_pred=M;FATHMM_score=0.14;FATHMM_pred=T;PROVEAN_score=-5.15;PROVEAN_pred=D;VEST3_score=0.746;CADD_raw=1.904;CADD_phred=15.61;DANN_score=0.724;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.013;MetaSVM_pred=T;MetaLR_score=0.474;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.421;SiPhy_29way_logOdds=20.218;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=4.511e-05;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-572.637,0,-656.323:664:326:313:9231:10155 . . . . . . 0/1:-824.398,0,-943.339:863:437:405:12621:13770:437,405 . . . . . . . . . . . . . . . . . chr2 179441148 . G C 6167.53 . AB=0.484576;ABP=4.61797;AC=2;AF=0.5;AN=4;AO=377;CIGAR=1X;DP=1208;DPB=778;DPRA=0;EPP=98.8604;EPPR=31.2956;GTI=0;LEN=1;MEANALT=3;MQM=38.2228;MQMR=38.7752;NS=1;NUMALT=1;ODDS=1519.44;PAIRED=0.976127;PAIREDR=0.981912;PAO=0;PQA=0;PQR=0;PRO=0;QA=10759;QR=12019;RO=387;RPL=189;RPP=3.01606;RPPR=3.15058;RPR=188;RUN=1;SAF=229;SAP=40.8008;SAR=148;SF=0,1;SRF=234;SRP=39.8243;SRR=153;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0031;1000g2015aug_all=0.00179712;avsnp147=rs72646886;Kaviar_AF=0.0027619;Kaviar_AC=427;Kaviar_AN=154602;ExAC_ALL=0.0027;ExAC_AFR=0.0002;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0.0015;ExAC_NFE=0.0041;ExAC_OTH=0.0048;ExAC_SAS=0.0007;CLNALLELEID=141509;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0027;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0077;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0045;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0032;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-681.166,0,-781.154:778:387:377:10759:12019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-423.422,0,-470.808:430:216:206:6466:6939:216,206 . . . . . . . . . . . . . . . . chr2 179441295 . T C 4600.51 . AB=0.473786;ABP=6.08409;AC=4;AF=0.5;AN=8;AO=244;CIGAR=1X;DP=2278;DPB=515;DPRA=0;EPP=23.5147;EPPR=34.8696;GTI=0;LEN=1;MEANALT=3;MQM=38.0656;MQMR=39.0191;NS=1;NUMALT=1;ODDS=982.739;PAIRED=0.97541;PAIREDR=0.992366;PAO=0;PQA=0;PQR=0;PRO=0;QA=7026;QR=8349;RO=262;RPL=106;RPP=12.1234;RPPR=67.1931;RPR=138;RUN=1;SAF=120;SAP=3.15269;SAR=124;SF=0;SRF=147;SRP=11.4973;SRR=115;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon153:c.A42481G:p.S14161G,TTN:NM_133432:exon154:c.A42856G:p.S14286G,TTN:NM_133437:exon154:c.A43057G:p.S14353G,TTN:NM_133378:exon274:c.A61972G:p.S20658G,TTN:NM_001256850:exon275:c.A64753G:p.S21585G,TTN:NM_001267550:exon325:c.A69676G:p.S23226G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0092;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0092;1000g2015aug_all=0.00299521;avsnp147=rs72646885;Kaviar_AF=0.0073091;Kaviar_AC=1130;Kaviar_AN=154602;ExAC_ALL=0.0075;ExAC_AFR=0.0014;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0.0018;ExAC_NFE=0.0095;ExAC_OTH=0.0111;ExAC_SAS=0.0110;CLNALLELEID=56440;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.955;MutationAssessor_pred=M;FATHMM_score=-0.51;FATHMM_pred=T;PROVEAN_score=-2.99;PROVEAN_pred=D;VEST3_score=0.312;CADD_raw=1.439;CADD_phred=12.99;DANN_score=0.838;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_pred=D;MetaSVM_score=0.109;MetaSVM_pred=D;MetaLR_score=0.478;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.57;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.959;phastCons20way_mammalian=0.933;SiPhy_29way_logOdds=11.877;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0076;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0291;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0024;gnomAD_exome_NFE=0.0085;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0116;gnomAD_genome_ALL=0.0048;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0074;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-437.244,0,-553.525:515:262:244:7026:8349 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-440.873,0,-525.787:506:254:244:7066:7993 . . . . . . . . . . . . . . . . . 0/1:-304.254,0,-447.782:435:235:190:5141:7132 . . . . . . . . 0/1:-714.599,0,-825.899:822:411:396:11330:12767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179441386 . G A 9828.07 . AB=0.490385;ABP=3.76196;AC=5;AF=0.5;AN=10;AO=459;CIGAR=1X;DP=5168;DPB=936;DPRA=0;EPP=17.3212;EPPR=28.0257;GTI=0;LEN=1;MEANALT=3;MQM=38.5163;MQMR=38.8356;NS=1;NUMALT=1;ODDS=1926.94;PAIRED=0.962963;PAIREDR=0.986667;PAO=0;PQA=0;PQR=0;PRO=0;QA=13426;QR=13217;RO=450;RPL=246;RPP=8.16222;RPPR=4.9405;RPR=213;RUN=1;SAF=244;SAP=6.98897;SAR=215;SF=0,1;SRF=258;SRP=24.0302;SRR=192;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon153:c.C42390T:p.S14130S,TTN:NM_133432:exon154:c.C42765T:p.S14255S,TTN:NM_133437:exon154:c.C42966T:p.S14322S,TTN:NM_133378:exon274:c.C61881T:p.S20627S,TTN:NM_001256850:exon275:c.C64662T:p.S21554S,TTN:NM_001267550:exon325:c.C69585T:p.S23195S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00299521;avsnp147=rs67041405;Kaviar_AF=0.0110865;Kaviar_AC=1714;Kaviar_AN=154602;ExAC_ALL=0.0121;ExAC_AFR=0.0015;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0.0440;ExAC_NFE=0.0162;ExAC_OTH=0.01;ExAC_SAS=0.0026;CLNALLELEID=56439;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0119;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0418;gnomAD_exome_NFE=0.0157;gnomAD_exome_OTH=0.0099;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0166;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0435;gnomAD_genome_NFE=0.0214;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-856.112,0,-849.534:936:450:459:13426:13217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1132.86,0,-1068.57:1211:579:602:17566:16818 . . . . . . . 0/1:-994.394,0,-989.247:988:484:485:14887:14900:484,485 . . . . . 0/1:-1138.07,0,-1158.87:1126:564:549:17041:17380:564,549 . 0/1:-877.47,0,-1004.69:907:470:419:13262:14850:470,419 . . . . . . . chr2 179441932 . G A 11079.10 . AB=0.487705;ABP=4.61221;AC=1;AF=0.5;AN=2;AO=595;CIGAR=1X;DP=1220;DPB=1220;DPRA=0;EPP=7.48098;EPPR=14.3599;GTI=0;LEN=1;MEANALT=3;MQM=38.1731;MQMR=39.21;NS=1;NUMALT=1;ODDS=2551.06;PAIRED=0.946218;PAIREDR=0.978333;PAO=0;PQA=0;PQR=0;PRO=0;QA=17631;QR=18275;RO=600;RPL=253;RPP=31.9183;RPPR=15.185;RPR=342;RUN=1;SAF=271;SAP=13.2618;SAR=324;SF=0;SRF=289;SRP=4.76195;SRR=311;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon152:c.C41935T:p.P13979S,TTN:NM_133432:exon153:c.C42310T:p.P14104S,TTN:NM_133437:exon153:c.C42511T:p.P14171S,TTN:NM_133378:exon273:c.C61426T:p.P20476S,TTN:NM_001256850:exon274:c.C64207T:p.P21403S,TTN:NM_001267550:exon324:c.C69130T:p.P23044S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0052;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0052;1000g2015aug_all=0.000998403;avsnp147=rs55980498;Kaviar_AF=0.0034023;Kaviar_AC=526;Kaviar_AN=154602;ExAC_ALL=0.0034;ExAC_AFR=0.0015;ExAC_AMR=0.0019;ExAC_EAS=0;ExAC_FIN=0.0047;ExAC_NFE=0.0048;ExAC_OTH=0.0056;ExAC_SAS=0.0011;CLNALLELEID=56430;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.034;SIFT_pred=D;Polyphen2_HDIV_score=0.957;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.642;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.845;MutationAssessor_pred=M;FATHMM_score=-0.67;FATHMM_pred=T;PROVEAN_score=-5.65;PROVEAN_pred=D;VEST3_score=0.284;CADD_raw=2.114;CADD_phred=16.94;DANN_score=0.918;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=0.021;MetaSVM_pred=D;MetaLR_score=0.417;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.62;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=20.028;GDI_full_10282015=.;dpsi_max_tissue=-0.0060;dpsi_zscore=-0.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0060;gnomAD_exome_NFE=0.0055;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-1120.38,0,-1183.6:1220:600:595:17631:18275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179441947 . C T 7007.15 . AB=0.500678;ABP=3.01325;AC=1;AF=0.5;AN=2;AO=369;CIGAR=1X;DP=737;DPB=737;DPRA=0;EPP=9.41879;EPPR=3.0347;GTI=0;LEN=1;MEANALT=3;MQM=38.4878;MQMR=39.4775;NS=1;NUMALT=1;ODDS=1602.73;PAIRED=0.99187;PAIREDR=0.969101;PAO=0;PQA=0;PQR=0;PRO=0;QA=11090;QR=10798;RO=356;RPL=199;RPP=7.95937;RPPR=10.9154;RPR=170;RUN=1;SAF=159;SAP=18.3165;SAR=210;SF=0;SRF=157;SRP=13.7701;SRR=199;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon152:c.G41920A:p.D13974N,TTN:NM_133432:exon153:c.G42295A:p.D14099N,TTN:NM_133437:exon153:c.G42496A:p.D14166N,TTN:NM_133378:exon273:c.G61411A:p.D20471N,TTN:NM_001256850:exon274:c.G64192A:p.D21398N,TTN:NM_001267550:exon324:c.G69115A:p.D23039N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.405;MutationAssessor_pred=M;FATHMM_score=0.86;FATHMM_pred=T;PROVEAN_score=-3.64;PROVEAN_pred=D;VEST3_score=0.076;CADD_raw=3.130;CADD_phred=22.6;DANN_score=0.940;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=0.004;MetaSVM_pred=D;MetaLR_score=0.430;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.62;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.028;GDI_full_10282015=.;dpsi_max_tissue=-0.0636;dpsi_zscore=-0.323;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-711.105,0,-705.627:737:356:369:11090:10798 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179442784 . C G 7327.42 . AB=0.506793;ABP=3.30534;AC=1;AF=0.5;AN=2;AO=373;CIGAR=1X;DP=736;DPB=736;DPRA=0;EPP=24.6726;EPPR=16.5245;GTI=0;LEN=1;MEANALT=3;MQM=39.7775;MQMR=40.2471;NS=1;NUMALT=1;ODDS=1531.58;PAIRED=0.965147;PAIREDR=0.973529;PAO=0;PQA=0;PQR=0;PRO=0;QA=11181;QR=10385;RO=340;RPL=137;RPP=60.0682;RPPR=74.7711;RPR=236;RUN=1;SAF=190;SAP=3.29556;SAR=183;SF=0;SRF=176;SRP=3.92998;SRR=164;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon150:c.G41263C:p.A13755P,TTN:NM_133432:exon151:c.G41638C:p.A13880P,TTN:NM_133437:exon151:c.G41839C:p.A13947P,TTN:NM_133378:exon271:c.G60754C:p.A20252P,TTN:NM_001256850:exon272:c.G63535C:p.A21179P,TTN:NM_001267550:exon322:c.G68458C:p.A22820P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0031;1000g2015aug_all=0.000798722;avsnp147=rs72646880;Kaviar_AF=0.0019211;Kaviar_AC=297;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0002;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0027;ExAC_OTH=0.0044;ExAC_SAS=0.0027;CLNALLELEID=56433;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.795;MutationAssessor_pred=H;FATHMM_score=-1.04;FATHMM_pred=T;PROVEAN_score=-3.67;PROVEAN_pred=D;VEST3_score=0.676;CADD_raw=2.997;CADD_phred=22.2;DANN_score=0.916;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=0.738;MetaSVM_pred=D;MetaLR_score=0.763;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.83;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.120;GDI_full_10282015=.;dpsi_max_tissue=-0.0395;dpsi_zscore=-0.216;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1413461#"Sudden_cardiac_death";gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0026;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0028;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.002;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-748.231,0,-681.345:736:340:373:11181:10385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179443540 . A G 8116.43 . AB=0.469246;ABP=11.2912;AC=9;AF=0.5;AN=16;AO=473;CIGAR=1X;DP=6385;DPB=1008;DPRA=0;EPP=24.8673;EPPR=54.7324;GTI=0;LEN=1;MEANALT=3;MQM=39.2262;MQMR=39.7008;NS=1;NUMALT=1;ODDS=1980.36;PAIRED=0.978858;PAIREDR=0.984252;PAO=0;PQA=0;PQR=0;PRO=0;QA=13634;QR=14949;RO=508;RPL=244;RPP=4.04324;RPPR=36.1124;RPR=229;RUN=1;SAF=182;SAP=57.5542;SAR=291;SF=0,1;SRF=193;SRP=66.6327;SRR=315;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon148:c.T41022C:p.H13674H,TTN:NM_133432:exon149:c.T41397C:p.H13799H,TTN:NM_133437:exon149:c.T41598C:p.H13866H,TTN:NM_133378:exon269:c.T60513C:p.H20171H,TTN:NM_001256850:exon270:c.T63294C:p.H21098H,TTN:NM_001267550:exon320:c.T68217C:p.H22739H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0838;esp6500siv2_ea=0.0327;esp6500siv2_all=0.0838;esp6500siv2_ea=0.0327;1000g2015aug_all=0.135982;avsnp147=rs10497517;Kaviar_AF=0.0825474;Kaviar_AC=12762;Kaviar_AN=154602;ExAC_ALL=0.0868;ExAC_AFR=0.2021;ExAC_AMR=0.2105;ExAC_EAS=0.0259;ExAC_FIN=0.0591;ExAC_NFE=0.0351;ExAC_OTH=0.08;ExAC_SAS=0.1832;CLNALLELEID=56428;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0447;dpsi_zscore=-0.241;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0900;gnomAD_exome_AFR=0.1987;gnomAD_exome_AMR=0.2097;gnomAD_exome_ASJ=0.0361;gnomAD_exome_EAS=0.0275;gnomAD_exome_FIN=0.0581;gnomAD_exome_NFE=0.0353;gnomAD_exome_OTH=0.0742;gnomAD_exome_SAS=0.1833;gnomAD_genome_ALL=0.0843;gnomAD_genome_AFR=0.1930;gnomAD_genome_AMR=0.1814;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0281;gnomAD_genome_FIN=0.0529;gnomAD_genome_NFE=0.0309;gnomAD_genome_OTH=0.0695;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-876.013,0,-990.714:1008:508:473:13634:14949 . . . . 0/1:-686.334,0,-703.442:797:377:394:10990:11284 . . . . . . . . . . . . . . . . . . . . . . 0/1:-246.195,0,-330.776:339:172:155:4122:5121 . 1/1:-1813.98,-209.893,0:852:18:809:21737:476 . . . . . 0/1:-498.977,0,-526.494:556:263:274:7691:8131 0/1:-703.124,0,-787.402:825:403:394:11065:12397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-979.392,0,-1272.98:1064:570:479:14856:18433:570,479 0/1:-899.396,0,-1074.29:944:486:439:13660:15589:486,439 . . . . . . . . . . . . . . . . . . chr2 179443834 . A G 6475.72 . AB=0.462983;ABP=13.7813;AC=1;AF=0.5;AN=2;AO=419;CIGAR=1X;DP=905;DPB=905;DPRA=0;EPP=55.8771;EPPR=39.2514;GTI=0;LEN=1;MEANALT=3;MQM=38.5656;MQMR=39.3879;NS=1;NUMALT=1;ODDS=1491.09;PAIRED=0.959427;PAIREDR=0.959052;PAO=0;PQA=0;PQR=0;PRO=0;QA=10978;QR=13863;RO=464;RPL=187;RPP=13.5049;RPPR=31.4828;RPR=232;RUN=1;SAF=196;SAP=6.78835;SAR=223;SF=0;SRF=223;SRP=4.52659;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon148:c.T40728C:p.V13576V,TTN:NM_133432:exon149:c.T41103C:p.V13701V,TTN:NM_133437:exon149:c.T41304C:p.V13768V,TTN:NM_133378:exon269:c.T60219C:p.V20073V,TTN:NM_001256850:exon270:c.T63000C:p.V21000V,TTN:NM_001267550:exon320:c.T67923C:p.V22641V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs759628511;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.492e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.502e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0145;dpsi_zscore=0.099;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.039e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.606e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-662.621,0,-920.61:905:464:419:10978:13863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179443948 . C T 10432.80 . AB=0.456485;ABP=22.2867;AC=1;AF=0.5;AN=2;AO=535;CIGAR=1X;DP=1172;DPB=1172;DPRA=0;EPP=160.529;EPPR=234.032;GTI=0;LEN=1;MEANALT=3;MQM=39.1215;MQMR=38.9545;NS=1;NUMALT=1;ODDS=2402.24;PAIRED=0.97757;PAIREDR=0.974026;PAO=0;PQA=0;PQR=0;PRO=0;QA=16964;QR=19367;RO=616;RPL=185;RPP=113.512;RPPR=84.4546;RPR=350;RUN=1;SAF=347;SAP=105.622;SAR=188;SF=0;SRF=408;SRP=144.015;SRR=208;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon148:c.G40614A:p.A13538A,TTN:NM_133432:exon149:c.G40989A:p.A13663A,TTN:NM_133437:exon149:c.G41190A:p.A13730A,TTN:NM_133378:exon269:c.G60105A:p.A20035A,TTN:NM_001256850:exon270:c.G62886A:p.A20962A,TTN:NM_001267550:exon320:c.G67809A:p.A22603A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00159744;avsnp147=rs548223512;Kaviar_AF=0.0005821;Kaviar_AC=90;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0040;CLNALLELEID=238441;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0447;dpsi_zscore=-0.241;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.958e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=9.707e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1090.24,0,-1288.45:1172:616:535:16964:19367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179444137 . A G 7097.73 . AB=0.485994;ABP=4.22681;AC=43;AF=0.5;AN=80;AO=347;CIGAR=1X;DP=30739;DPB=714;DPRA=0;EPP=85.7703;EPPR=98.7722;GTI=0;LEN=1;MEANALT=3;MQM=39;MQMR=39.9333;NS=1;NUMALT=1;ODDS=1352.96;PAIRED=0.994236;PAIREDR=0.991667;PAO=0;PQA=0;PQR=0;PRO=0;QA=9886;QR=11165;RO=360;RPL=111;RPP=100.789;RPPR=78.674;RPR=236;RUN=1;SAF=93;SAP=165.22;SAR=254;SF=0,1;SRF=107;SRP=131.586;SRR=253;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2206;esp6500siv2_ea=0.1688;esp6500siv2_all=0.2206;esp6500siv2_ea=0.1688;1000g2015aug_all=0.347444;avsnp147=rs2288571;Kaviar_AF=0.226271;Kaviar_AC=34982;Kaviar_AN=154602;ExAC_ALL=0.2388;ExAC_AFR=0.3441;ExAC_AMR=0.1902;ExAC_EAS=0.6122;ExAC_FIN=0.1660;ExAC_NFE=0.1730;ExAC_OTH=0.2265;ExAC_SAS=0.3326;CLNALLELEID=141507;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2773;dpsi_zscore=-0.819;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2375;gnomAD_exome_AFR=0.3445;gnomAD_exome_AMR=0.1913;gnomAD_exome_ASJ=0.2425;gnomAD_exome_EAS=0.6162;gnomAD_exome_FIN=0.1721;gnomAD_exome_NFE=0.1675;gnomAD_exome_OTH=0.2250;gnomAD_exome_SAS=0.3168;gnomAD_genome_ALL=0.2459;gnomAD_genome_AFR=0.3454;gnomAD_genome_AMR=0.2088;gnomAD_genome_ASJ=0.1854;gnomAD_genome_EAS=0.6117;gnomAD_genome_FIN=0.1611;gnomAD_genome_NFE=0.1758;gnomAD_genome_OTH=0.2037;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-630.452,0,-739.951:714:360:347:9886:11165 . . . 0/1:-645.726,0,-709.654:722:351:355:10055:10879 . . . . . . 1/1:-1151.1,-135.533,0:536:9:509:13926:254 0/1:-522.639,0,-624.634:609:306:289:8208:9420 . . . . . . 0/1:-836.146,0,-895.572:895:439:435:12759:13569 0/1:-526.258,0,-589.245:622:301:309:8516:9173 . . 0/1:-919.206,0,-1142.47:1086:561:500:14498:17282 0/1:-696.152,0,-922.8:871:456:396:11099:14065 . . . . 0/1:-650.231,0,-1156.77:950:547:381:11124:16915 . 0/1:-136.132,0,-238.481:207:112:88:2417:3487 . . 0/1:-654.222,0,-987.449:870:473:381:10730:14703 . . . 0/1:-695.811,0,-806.617:799:402:381:10965:12290 0/1:-427.609,0,-491.612:501:247:243:6708:7451 . 0/1:-903.718,0,-938.808:983:466:495:13962:14489 0/1:-791.904,0,-879.224:876:438:425:12220:13394 . . 0/1:-789.335,0,-978.6:949:492:434:12581:14865 0/1:-371.364,0,-570.622:526:287:224:6264:8691 . 0/1:-862.256,0,-898.616:925:450:457:13114:13772 . . . 0/1:-495.87,0,-467.269:533:246:273:7750:7411 0/1:-947.527,0,-982.204:1040:491:515:14723:15144 . 0/1:-451.201,0,-464.985:514:246:257:7085:7485 . 0/1:-782.281,0,-884.827:862:421:424:12081:13386 0/1:-336.58,0,-457.905:447:237:202:5486:7027 0/1:-808.006,0,-803.701:878:406:454:12615:12578 . . . . . . . 0/1:-730.422,0,-889.883:841:430:389:11417:13287 . 0/1:-879.189,0,-907.274:944:451:466:13541:13857 . . 0/1:-707.516,0,-885.984:854:444:397:11203:13460 0/1:-847.368,0,-737.757:857:382:452:12959:11719 . . . . . 0/1:-780.668,0,-802.337:860:412:423:12248:12409 . 1/1:-2012.16,-218.933,0:876:15:837:23973:455 . 0/1:-688.329,0,-632.728:722:324:378:10605:9827 . . . . . 0/1:-782.262,0,-975.303:836:433:389:11837:14073:433,389 0/1:-911.649,0,-927.708:895:425:451:13583:13696:425,451 . . . . 0/1:-878.305,0,-856.023:844:403:425:12965:12763:403,425 . 1/1:-1515.29,-147.501,0:610:12:576:17899:371:12,576 . 0/1:-596.614,0,-665.365:616:309:297:8995:9948:309,297 . 0/1:-799.839,0,-878.271:813:412:391:12035:13067:412,391 . . 0/1:-730.679,0,-879.878:780:396:368:11116:12921:396,368 0/1:-697.401,0,-884.223:758:404:343:10606:12868:404,343 . 0/1:-712.544,0,-747.075:718:353:354:10746:11105:353,354 chr2 179444289 . A G 7582.75 . AB=0.440501;ABP=32.468;AC=2;AF=0.5;AN=4;AO=422;CIGAR=1X;DP=1863;DPB=958;DPRA=0;EPP=34.3166;EPPR=65.4045;GTI=0;LEN=1;MEANALT=3;MQM=38.0379;MQMR=38.832;NS=1;NUMALT=1;ODDS=1641.68;PAIRED=0.976303;PAIREDR=0.984556;PAO=0;PQA=0;PQR=0;PRO=0;QA=12294;QR=15861;RO=518;RPL=97;RPP=270.503;RPPR=209.61;RPR=325;RUN=1;SAF=249;SAP=32.7317;SAR=173;SF=0;SRF=282;SRP=11.8806;SRR=236;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon147:c.T40440C:p.V13480V,TTN:NM_133432:exon148:c.T40815C:p.V13605V,TTN:NM_133437:exon148:c.T41016C:p.V13672V,TTN:NM_133378:exon268:c.T59931C:p.V19977V,TTN:NM_001256850:exon269:c.T62712C:p.V20904V,TTN:NM_001267550:exon319:c.T67635C:p.V22545V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0225;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0225;1000g2015aug_all=0.0283546;avsnp147=rs2288570;Kaviar_AF=0.0290553;Kaviar_AC=4492;Kaviar_AN=154602;ExAC_ALL=0.0305;ExAC_AFR=0.0039;ExAC_AMR=0.0366;ExAC_EAS=0.0654;ExAC_FIN=0.0532;ExAC_NFE=0.0269;ExAC_OTH=0.0244;ExAC_SAS=0.0300;CLNALLELEID=56420;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0299;dpsi_zscore=-0.164;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0301;gnomAD_exome_AFR=0.0049;gnomAD_exome_AMR=0.0351;gnomAD_exome_ASJ=0.0156;gnomAD_exome_EAS=0.0620;gnomAD_exome_FIN=0.0493;gnomAD_exome_NFE=0.0251;gnomAD_exome_OTH=0.0284;gnomAD_exome_SAS=0.0282;gnomAD_genome_ALL=0.0250;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0591;gnomAD_genome_FIN=0.0544;gnomAD_genome_NFE=0.0254;gnomAD_genome_OTH=0.0346;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-757.2,0,-1053.15:958:518:422:12294:15861 . . . . . . . . . . . . . . . . . . . 0/1:-846.159,0,-884.811:905:442:448:13351:13720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179444437 . T C 6941.22 . AB=0.457143;ABP=16.4114;AC=1;AF=0.5;AN=2;AO=384;CIGAR=1X;DP=840;DPB=840;DPRA=0;EPP=10.339;EPPR=36.0661;GTI=0;LEN=1;MEANALT=3;MQM=39.3333;MQMR=39.6265;NS=1;NUMALT=1;ODDS=1598.27;PAIRED=0.973958;PAIREDR=0.972158;PAO=0;PQA=0;PQR=0;PRO=0;QA=11222;QR=13508;RO=431;RPL=127;RPP=98.5777;RPPR=89.4712;RPR=257;RUN=1;SAF=193;SAP=3.03292;SAR=191;SF=0;SRF=223;SRP=4.1439;SRR=208;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon147:c.A40292G:p.K13431R,TTN:NM_133432:exon148:c.A40667G:p.K13556R,TTN:NM_133437:exon148:c.A40868G:p.K13623R,TTN:NM_133378:exon268:c.A59783G:p.K19928R,TTN:NM_001256850:exon269:c.A62564G:p.K20855R,TTN:NM_001267550:exon319:c.A67487G:p.K22496R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517669;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.301e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56416;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.126;SIFT_pred=T;Polyphen2_HDIV_score=0.955;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.698;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.9;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.189;CADD_raw=1.218;CADD_phred=11.84;DANN_score=0.726;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.747;MetaSVM_pred=T;MetaLR_score=0.185;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.51;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.907;GDI_full_10282015=.;dpsi_max_tissue=-0.1248;dpsi_zscore=-0.519;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.633e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.612e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-712.891,0,-903.507:840:431:384:11222:13508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179444768 . C G 22476.77 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=899;CIGAR=1X;DP=110032;DPB=929;DPRA=0;EPP=47.0315;EPPR=3.44459;GTI=0;LEN=1;MEANALT=3;MQM=38.3493;MQMR=30.6;NS=1;NUMALT=1;ODDS=1215.84;PAIRED=0.978865;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=25615;QR=77;RO=5;RPL=415;RPP=14.5102;RPPR=3.44459;RPR=484;RUN=1;SAF=331;SAP=138.683;SAR=568;SF=0,1;SRF=4;SRP=6.91895;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon146:c.G40051C:p.A13351P,TTN:NM_133432:exon147:c.G40426C:p.A13476P,TTN:NM_133437:exon147:c.G40627C:p.A13543P,TTN:NM_133378:exon267:c.G59542C:p.A19848P,TTN:NM_001256850:exon268:c.G62323C:p.A20775P,TTN:NM_001267550:exon318:c.G67246C:p.A22416P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9956;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9956;esp6500siv2_ea=0.9999;1000g2015aug_all=0.994609;avsnp147=rs4145333;Kaviar_AF=0.947562;Kaviar_AC=146495;Kaviar_AN=154602;ExAC_ALL=0.9986;ExAC_AFR=0.9862;ExAC_AMR=0.9988;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=56415;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.371;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.71;MutationAssessor_pred=N;FATHMM_score=0.46;FATHMM_pred=T;PROVEAN_score=0.24;PROVEAN_pred=N;VEST3_score=0.076;CADD_raw=-0.011;CADD_phred=2.486;DANN_score=0.804;fathmm-MKL_coding_score=0.111;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.003;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.82;phyloP7way_vertebrate=-0.367;phyloP20way_mammalian=-0.642;phastCons7way_vertebrate=0.965;phastCons20way_mammalian=0.829;SiPhy_29way_logOdds=0.542;GDI_full_10282015=.;dpsi_max_tissue=0.3043;dpsi_zscore=0.898;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9987;gnomAD_exome_AFR=0.9849;gnomAD_exome_AMR=0.9988;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9993;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9969;gnomAD_genome_AFR=0.9895;gnomAD_genome_AMR=0.9988;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2155.01,-265.48,0:929:5:899:25615:77 1/1:-2986.09,-363.835,0:1295:13:1255:35411:208 1/1:-2152.44,-261.77,0:930:10:899:25514:147 1/1:-1613.72,-192.764,0:679:5:660:19193:83 1/1:-2421.07,-292.523,0:1048:13:1011:28851:215 1/1:-2872.86,-355.179,0:1244:7:1200:34037:98 1/1:-1984.82,-239.695,0:844:7:813:23593:98 1/1:-2381.94,-281.176,0:1033:16:991:28275:279 1/1:-2066.77,-248.087,0:872:6:843:24421:84 1/1:-2616.71,-318.592,0:1141:12:1099:31156:182 1/1:-2435.07,-295.834,0:1045:11:1011:28941:154 1/1:-2266.1,-272.434,0:952:8:921:26691:130 1/1:-2073.28,-248.768,0:926:17:880:24738:238 1/1:-1751.83,-220.889,0:788:8:759:21326:125 1/1:-1940.37,-232.985,0:825:9:802:22873:126 1/1:-3430.7,-406.384,0:1424:10:1378:40316:140 1/1:-1826.8,-233.29,0:836:9:801:21943:126 1/1:-4413.41,-522.343,0:1870:18:1795:52368:301 1/1:-2269.94,-273.117,0:948:4:920:26786:56 1/1:-1705.06,-210.537,0:736:6:713:20442:91 1/1:-1845.82,-221.262,0:806:11:773:21988:172 1/1:-2802.03,-333.26,0:1174:12:1143:33148:168 1/1:-1495.78,-189.505,0:703:12:664:18205:168 1/1:-2697.07,-318.336,0:1133:12:1091:31838:168 1/1:-2427.35,-294.314,0:1048:11:1012:28606:154 1/1:-1799.11,-227.134,0:834:12:789:21961:168 1/1:-2379.21,-285.638,0:1001:8:970:28157:112 1/1:-2643.14,-314.43,0:1129:11:1082:31236:174 1/1:-1770.51,-216.551,0:775:9:746:21176:146 1/1:-1762.43,-212.585,0:764:7:728:21055:98 1/1:-2231.21,-268.313,0:950:9:916:26434:126 1/1:-3187.95,-395.935,0:1384:11:1343:37918:167 1/1:-2660.65,-320.657,0:1120:9:1090:31480:126 1/1:-541.434,-70.0548,0:247:2:239:6491:28 1/1:-2508.7,-300.643,0:1051:7:1021:29713:98 1/1:-2408.55,-295.272,0:1019:4:990:28396:63 1/1:-841.548,-105.039,0:364:1:352:9900:14 1/1:-2853.19,-344.157,0:1200:5:1161:33550:83 1/1:-2263.42,-275.105,0:1008:18:965:27238:265 1/1:-598.589,-69.6073,0:257:5:247:7024:70 1/1:-3013.9,-364.006,0:1258:5:1225:35522:70 1/1:-2068.38,-247.079,0:846:2:827:24322:28 1/1:-2315.55,-280.119,0:972:7:946:27286:98 1/1:-2411.81,-286.325,0:1018:9:973:28546:133 1/1:-3123.68,-356.009,0:1304:21:1248:36897:330 1/1:-2518.6,-306.05,0:1075:9:1043:29745:126 1/1:-2327.62,-278.984,0:980:7:947:27637:98 1/1:-1437.48,-172.788,0:628:10:600:17014:140 1/1:-2075.02,-252.675,0:889:7:858:24796:120 1/1:-2771.82,-330.346,0:1175:12:1132:32884:168 1/1:-2620.05,-306.633,0:1082:11:1050:30924:154 1/1:-2156.52,-262.101,0:982:22:929:25899:328 1/1:-3143.48,-366.572,0:1320:15:1263:37163:228 1/1:-2564.26,-306.406,0:1076:8:1045:30360:125 1/1:-1787.67,-222.248,0:800:11:771:21423:154 1/1:-2013.74,-239.892,0:850:7:817:23731:98 1/1:-2587.69,-310.796,0:1112:10:1062:30402:140 1/1:-1205.31,-151.203,0:563:10:532:14582:147 1/1:-1720.92,-206.867,0:755:11:718:20463:154 1/1:-2171.92,-260.935,0:924:8:890:25712:119 1/1:-1417.09,-182.185,0:651:7:625:16945:98 1/1:-2889.73,-349.573,0:1256:12:1200:34306:188 1/1:-1894.09,-220.067,0:799:12:765:22231:168 1/1:-1806.49,-218.967,0:769:5:741:21453:70 1/1:-2917.04,-345.363,0:1240:15:1192:34604:232 1/1:-2546.72,-303.107,0:1064:6:1026:30008:84 1/1:-1395.22,-178.402,0:622:4:605:16789:69 1/1:-2659.52,-311.618,0:1120:12:1071:31330:175 1/1:-1816.79,-219.483,0:778:6:744:21415:84 1/1:-2241.69,-273.707,0:962:7:926:26779:98 1/1:-2174.49,-256.756,0:924:11:890:25829:185 1/1:-3457.8,-403.922,0:1434:16:1383:40474:224 1/1:-3110.28,-373.161,0:1325:12:1270:36506:168 1/1:-1549.77,-200.993,0:717:9:694:18910:126 1/1:-2149.09,-250.18,0:889:10:862:25418:158 1/1:-2608.85,-313.511,0:1112:9:1068:31003:133 1/1:-2759.32,-339.791,0:1199:7:1149:32578:98 1/1:-2880.02,-347.215,0:1246:16:1201:34139:250 1/1:-1649.82,-199.567,0:716:8:688:19617:112 1/1:-1386.88,-166.837,0:593:7:571:16392:98 1/1:-2707.96,-325.692,0:1173:12:1130:32298:233 1/1:-2663.04,-311.059,0:1138:16:1087:31735:255 1/1:-2580.2,-312.297,0:1127:15:1081:30630:217 1/1:-2304.62,-280.104,0:974:6:946:27193:84 1/1:-2085.31,-253.938,0:896:7:857:24776:98 1/1:-2032.61,-244.33,0:874:9:838:23933:126 1/1:-1917.91,-231.171,0:828:9:796:22923:126 1/1:-2463.31,-292.471,0:1065:14:1025:29343:242 1/1:-1439.64,-170.004,0:595:6:571:16940:84 1/1:-2391.87,-287.881,0:1035:13:990:28350:182 1/1:-3403.99,-411.172,0:1452:14:1408:40154:240 1/1:-2132.99,-252.827,0:926:15:888:25298:228 1/1:-3172.41,-375.117,0:1330:15:1288:37172:210 1/1:-2642.46,-317.45,0:1129:12:1087:31206:193 1/1:-2632.6,-322.696,0:1138:10:1095:31059:147 . 1/1:-2474.67,-276.156,0:949:3:929:28715:49:3,929 1/1:-2582.47,-284.555,0:973:4:958:29827:56:4,958 1/1:-2626.91,-290.733,0:1021:9:994:30471:126:9,994 1/1:-1293.49,-149.803,0:515:2:504:15151:28:2,504 1/1:-1846.44,-205.505,0:715:4:695:21344:56:4,695 1/1:-2584.48,-290.472,0:1017:8:990:30189:112:8,990 1/1:-2161.81,-246.713,0:845:3:829:25038:42:3,829 1/1:-2385.18,-274.13,0:936:2:917:27683:28:2,917 1/1:-2106.11,-241.727,0:820:0:803:24444:0:0,803 1/1:-1895.26,-216.015,0:743:4:728:22069:56:4,728 1/1:-2322.09,-262.688,0:898:2:879:27073:28:2,879 1/1:-1642.05,-185.927,0:644:2:624:19067:28:2,624 1/1:-2042.84,-227.905,0:802:5:773:23631:70:5,773 1/1:-2100.93,-235.009,0:813:4:793:24488:56:4,793 1/1:-2351.87,-261.079,0:900:4:880:27123:56:4,880 1/1:-2260.41,-259.396,0:893:5:874:26258:70:5,874 1/1:-2593.21,-291.922,0:1020:5:980:30152:70:5,980 1/1:-2111.26,-237.55,0:824:5:808:24591:92:5,808 1/1:-2010.23,-220.048,0:772:8:754:23475:112:8,754 1/1:-2338.67,-261.619,0:895:4:880:27121:78:4,880 chr2 179444939 . C T 6751.04 . AB=0.484848;ABP=4.06314;AC=44;AF=0.5;AN=78;AO=256;CIGAR=1X;DP=24454;DPB=528;DPRA=0;EPP=3.04423;EPPR=5.67529;GTI=0;LEN=1;MEANALT=3;MQM=38.7383;MQMR=39.4583;NS=1;NUMALT=1;ODDS=1086.24;PAIRED=1;PAIREDR=0.988636;PAO=0;PQA=0;PQR=0;PRO=0;QA=7610;QR=8136;RO=264;RPL=171;RPP=65.7455;RPPR=63.8444;RPR=85;RUN=1;SAF=126;SAP=3.14602;SAR=130;SF=0,1;SRF=146;SRP=9.45891;SRR=118;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon146:c.G39880A:p.V13294I,TTN:NM_133432:exon147:c.G40255A:p.V13419I,TTN:NM_133437:exon147:c.G40456A:p.V13486I,TTN:NM_133378:exon267:c.G59371A:p.V19791I,TTN:NM_001256850:exon268:c.G62152A:p.V20718I,TTN:NM_001267550:exon318:c.G67075A:p.V22359I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2239;esp6500siv2_ea=0.1769;esp6500siv2_all=0.2239;esp6500siv2_ea=0.1769;1000g2015aug_all=0.351238;avsnp147=rs2303838;Kaviar_AF=0.233192;Kaviar_AC=36052;Kaviar_AN=154602;ExAC_ALL=0.2420;ExAC_AFR=0.3316;ExAC_AMR=0.1927;ExAC_EAS=0.6017;ExAC_FIN=0.1655;ExAC_NFE=0.1776;ExAC_OTH=0.2327;ExAC_SAS=0.3312;CLNALLELEID=56412;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.145;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.048;MutationTaster_pred=P;MutationAssessor_score=1.715;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=1.514;CADD_phred=13.39;DANN_score=0.894;fathmm-MKL_coding_score=0.304;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.962;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.61;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.022;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=6.761;GDI_full_10282015=.;dpsi_max_tissue=0.5289;dpsi_zscore=1.161;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2391;gnomAD_exome_AFR=0.3339;gnomAD_exome_AMR=0.1928;gnomAD_exome_ASJ=0.2367;gnomAD_exome_EAS=0.6092;gnomAD_exome_FIN=0.1720;gnomAD_exome_NFE=0.1739;gnomAD_exome_OTH=0.2147;gnomAD_exome_SAS=0.3263;gnomAD_genome_ALL=0.2442;gnomAD_genome_AFR=0.3324;gnomAD_genome_AMR=0.2160;gnomAD_genome_ASJ=0.1867;gnomAD_genome_EAS=0.6045;gnomAD_genome_FIN=0.1603;gnomAD_genome_NFE=0.1805;gnomAD_genome_OTH=0.2041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-485.529,0,-537.117:528:264:256:7610:8136 . . 0/1:-501.102,0,-752.394:643:361:272:8215:10955 0/1:-473.808,0,-652.421:591:315:259:7697:9728 . . . . . . 1/1:-1245.83,-142.437,0:512:4:500:14978:104 0/1:-486.901,0,-535.484:541:270:258:7655:8155 . . . . . . 0/1:-744.396,0,-799.23:817:401:389:11685:12188 0/1:-522.333,0,-513.292:565:263:290:8524:8057 . . 0/1:-939.811,0,-909.612:973:472:486:14630:14272 . . . . . 0/1:-586.037,0,-904.449:751:425:316:9714:13344 . 1/1:-557.973,-60.7388,0:233:3:227:6674:108 . . 0/1:-702.581,0,-544.932:654:286:350:10486:8565 . . . 0/1:-684.254,0,-677.266:700:339:347:10491:10335 1/1:-1027.11,-114.841,0:421:4:408:12274:103 . 0/1:-782.907,0,-784.79:809:389:397:12010:11978 0/1:-657.396,0,-653.252:661:318:329:9963:9929 . . 0/1:-659.508,0,-749.981:742:374:351:10691:11518 0/1:-463.354,0,-462.908:521:250:255:7391:7328 . 0/1:-720.677,0,-661.107:699:321:366:10958:10024 . . . 0/1:-415.189,0,-458.356:470:234:226:6758:7116 0/1:-819.689,0,-856.767:881:421:437:12897:13074 . 0/1:-461.254,0,-508.084:505:248:245:7358:7581 . 0/1:-650.052,0,-637.568:691:330:343:10047:9830 0/1:-338.772,0,-512.451:470:256:195:5752:7659 0/1:-744.399,0,-744.601:772:369:385:11378:11367 . . . . . . . 0/1:-690.182,0,-725.24:751:363:375:11099:11195 . 0/1:-769.214,0,-825.602:826:409:409:12211:12774 . . 0/1:-649.553,0,-749.297:731:362:348:10466:11345 0/1:-702.128,0,-746.485:751:379:360:10837:11568 . . . . . 0/1:-743.592,0,-700.099:772:365:395:11749:10852 . 1/1:-1829.03,-188.307,0:767:14:742:22043:458 . 0/1:-718.56,0,-550.358:664:296:356:10777:8822 . . . . . 0/1:-519.564,0,-446.721:460:214:235:7554:6786:214,235 0/1:-642.262,0,-598.847:591:280:301:9500:8990:280,301 . . . . 0/1:-634.095,0,-562.494:580:272:297:9394:8499:272,297 . 1/1:-1273.68,-134.97,0:484:3:476:14874:104:3,476 . 0/1:-584.432,0,-441.671:478:219:256:8372:6793:219,256 . 0/1:-520.104,0,-536.33:501:248:248:7861:7907:248,248 . . . 0/1:-492.49,0,-608.907:533:288:240:7681:8949:288,240 . 0/1:-444.484,0,-402.604:415:197:210:6621:6078:197,210 chr2 179446381 . C T 3533.51 . AB=0.442765;ABP=16.1845;AC=1;AF=0.5;AN=2;AO=205;CIGAR=1X;DP=463;DPB=463;DPRA=0;EPP=30.5615;EPPR=50.6308;GTI=0;LEN=1;MEANALT=3;MQM=38.2049;MQMR=38.7901;NS=1;NUMALT=1;ODDS=813.621;PAIRED=0.995122;PAIREDR=0.983539;PAO=0;PQA=0;PQR=0;PRO=0;QA=5877;QR=7185;RO=243;RPL=130;RPP=35.0528;RPPR=5.59283;RPR=75;RUN=1;SAF=95;SAP=5.39362;SAR=110;SF=0;SRF=111;SRP=6.95112;SRR=132;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon144:c.G39419A:p.R13140K,TTN:NM_133432:exon145:c.G39794A:p.R13265K,TTN:NM_133437:exon145:c.G39995A:p.R13332K,TTN:NM_133378:exon265:c.G58910A:p.R19637K,TTN:NM_001256850:exon266:c.G61691A:p.R20564K,TTN:NM_001267550:exon316:c.G66614A:p.R22205K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0219;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0219;1000g2015aug_all=0.00579073;avsnp147=rs72646869;Kaviar_AF=0.015168;Kaviar_AC=2345;Kaviar_AN=154602;ExAC_ALL=0.0149;ExAC_AFR=0.0039;ExAC_AMR=0.0084;ExAC_EAS=0.0001;ExAC_FIN=0.0174;ExAC_NFE=0.0225;ExAC_OTH=0.0147;ExAC_SAS=0.0021;CLNALLELEID=56401;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.717;SIFT_pred=T;Polyphen2_HDIV_score=0.122;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=-0.21;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-1.57;PROVEAN_pred=N;VEST3_score=0.294;CADD_raw=3.234;CADD_phred=22.8;DANN_score=0.920;fathmm-MKL_coding_score=0.887;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.41;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=19.389;GDI_full_10282015=.;dpsi_max_tissue=0.1475;dpsi_zscore=0.610;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0085;gnomAD_exome_ASJ=0.0039;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0184;gnomAD_exome_NFE=0.0223;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0129;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0198;gnomAD_genome_NFE=0.0175;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-367.473,0,-467.993:463:243:205:5877:7185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179447110 . CAT CAAT 3603.63 . AB=0.381538;ABP=82.239;AC=1;AF=0.5;AN=2;AO=248;CIGAR=1M1I2M;DP=650;DPB=746.333;DPRA=0;EPP=179.565;EPPR=166.773;GTI=0;LEN=1;MEANALT=13;MQM=37.746;MQMR=37.8809;NS=1;NUMALT=1;ODDS=829.766;PAIRED=0.987903;PAIREDR=0.972299;PAO=11;PQA=298;PQR=298;PRO=11;QA=6746;QR=11427;RO=361;RPL=118;RPP=4.27115;RPPR=4.36371;RPR=130;RUN=1;SAF=121;SAP=3.32551;SAR=127;SF=0;SRF=188;SRP=4.36371;SRR=173;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon142:c.38877dupT:p.E12960_Y12961delinsX,TTN:NM_133432:exon143:c.39252dupT:p.E13085_Y13086delinsX,TTN:NM_133437:exon143:c.39453dupT:p.E13152_Y13153delinsX,TTN:NM_133378:exon263:c.58368dupT:p.E19457_Y19458delinsX,TTN:NM_001256850:exon264:c.61149dupT:p.E20384_Y20385delinsX,TTN:NM_001267550:exon314:c.66072dupT:p.E22025_Y22026delinsX;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-391.158,0,-755.448:650:361:248:6746:11427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179447132 . C T 7365.58 . AB=0.46875;ABP=9.52472;AC=1;AF=0.5;AN=2;AO=360;CIGAR=1X;DP=768;DPB=768;DPRA=0;EPP=11.7203;EPPR=15.0323;GTI=0;LEN=1;MEANALT=2;MQM=39.6556;MQMR=39.9825;NS=1;NUMALT=1;ODDS=1695.99;PAIRED=0.952778;PAIREDR=0.944862;PAO=0;PQA=0;PQR=0;PRO=0;QA=11363;QR=12764;RO=399;RPL=150;RPP=24.725;RPPR=48.0779;RPR=210;RUN=1;SAF=199;SAP=11.7203;SAR=161;SF=1;SRF=219;SRP=11.288;SRR=180;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon142:c.G38856A:p.V12952V,TTN:NM_133432:exon143:c.G39231A:p.V13077V,TTN:NM_133437:exon143:c.G39432A:p.V13144V,TTN:NM_133378:exon263:c.G58347A:p.V19449V,TTN:NM_001256850:exon264:c.G61128A:p.V20376V,TTN:NM_001267550:exon314:c.G66051A:p.V22017V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs587780981;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=141504;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2349;dpsi_zscore=-0.750;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-748.576,0,-866.829:768:399:360:11363:12764:399,360 . . . . . . . . . . . . chr2 179447755 . G A 6364.03 . AB=0.489316;ABP=3.93828;AC=4;AF=0.5;AN=8;AO=458;CIGAR=1X;DP=2800;DPB=936;DPRA=0;EPP=64.627;EPPR=72.3669;GTI=0;LEN=1;MEANALT=3;MQM=38.6397;MQMR=39.8884;NS=1;NUMALT=1;ODDS=2053.32;PAIRED=0.973799;PAIREDR=0.969957;PAO=0;PQA=0;PQR=0;PRO=0;QA=14027;QR=14795;RO=466;RPL=229;RPP=3.0103;RPPR=8.39704;RPR=229;RUN=1;SAF=275;SAP=43.1399;SAR=183;SF=0;SRF=286;SRP=55.3679;SRR=180;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon141:c.C38580T:p.S12860S,TTN:NM_133432:exon142:c.C38955T:p.S12985S,TTN:NM_133437:exon142:c.C39156T:p.S13052S,TTN:NM_133378:exon262:c.C58071T:p.S19357S,TTN:NM_001256850:exon263:c.C60852T:p.S20284S,TTN:NM_001267550:exon313:c.C65775T:p.S21925S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;1000g2015aug_all=0.00159744;avsnp147=rs72646867;Kaviar_AF=0.0023738;Kaviar_AC=367;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0001;ExAC_AMR=0.0025;ExAC_EAS=0.0006;ExAC_FIN=0.0003;ExAC_NFE=0.0020;ExAC_OTH=0.0069;ExAC_SAS=0.0104;CLNALLELEID=56395;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1335;dpsi_zscore=-0.542;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0029;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0106;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-909.873,0,-987.748:936:466:458:14027:14795 . . . . . . . . . . . . . . . . . . . . 0/1:-221.317,0,-366.557:282:163:118:3625:5182 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-717.962,0,-816.738:782:394:369:11013:12236 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-771.24,0,-815.586:800:400:383:11792:12380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179447848 . T C 13247.65 . AB=0.482781;ABP=7.04857;AC=55;AF=0.5;AN=96;AO=757;CIGAR=1X;DP=64269;DPB=1568;DPRA=0;EPP=201.423;EPPR=254.803;GTI=0;LEN=1;MEANALT=3;MQM=38.9128;MQMR=39.8392;NS=1;NUMALT=1;ODDS=3080.54;PAIRED=0.963012;PAIREDR=0.949416;PAO=0;PQA=0;PQR=0;PRO=0;QA=21225;QR=24188;RO=771;RPL=356;RPP=8.81906;RPPR=18.0191;RPR=401;RUN=1;SAF=393;SAP=5.42273;SAR=364;SF=0,1;SRF=385;SRP=3.01312;SRR=386;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon141:c.A38487G:p.T12829T,TTN:NM_133432:exon142:c.A38862G:p.T12954T,TTN:NM_133437:exon142:c.A39063G:p.T13021T,TTN:NM_133378:exon262:c.A57978G:p.T19326T,TTN:NM_001256850:exon263:c.A60759G:p.T20253T,TTN:NM_001267550:exon313:c.A65682G:p.T21894T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3218;esp6500siv2_ea=0.2244;esp6500siv2_all=0.3218;esp6500siv2_ea=0.2244;1000g2015aug_all=0.513778;avsnp147=rs4894029;Kaviar_AF=0.339782;Kaviar_AC=52531;Kaviar_AN=154602;ExAC_ALL=0.3588;ExAC_AFR=0.5509;ExAC_AMR=0.4422;ExAC_EAS=0.7006;ExAC_FIN=0.2785;ExAC_NFE=0.2377;ExAC_OTH=0.3356;ExAC_SAS=0.5310;CLNALLELEID=56392;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1429;dpsi_zscore=0.599;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3546;gnomAD_exome_AFR=0.5487;gnomAD_exome_AMR=0.4339;gnomAD_exome_ASJ=0.2889;gnomAD_exome_EAS=0.7034;gnomAD_exome_FIN=0.2785;gnomAD_exome_NFE=0.2271;gnomAD_exome_OTH=0.3130;gnomAD_exome_SAS=0.5209;gnomAD_genome_ALL=0.3546;gnomAD_genome_AFR=0.5440;gnomAD_genome_AMR=0.4149;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.6943;gnomAD_genome_FIN=0.2685;gnomAD_genome_NFE=0.2316;gnomAD_genome_OTH=0.3057;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1367.25,0,-1613.77:1568:771:757:21225:24188 . . . . . . 0/1:-1003.44,0,-1267.96:1205:609:566:15533:18967 . . 0/1:-1116.59,0,-1328.45:1323:650:628:17529:20035 0/1:-1051.21,0,-1225.27:1225:609:587:16221:18828 . . . 0/1:-981.065,0,-1072.65:1164:546:584:15593:16566 . . 1/1:-2161.37,-261.622,0:973:10:930:25341:250 0/1:-865.99,0,-1001.65:1023:499:499:13409:15328 0/1:-1481.13,0,-1586.1:1639:777:821:23093:24124 . . . . . 0/1:-1207.94,0,-1671.84:1535:794:707:19368:24757 0/1:-915.12,0,-974.218:1069:495:538:14270:15177 . . 0/1:-1447.52,0,-1855.85:1754:904:809:22924:28084 0/1:-1222.17,0,-1505.57:1475:748:694:19478:22824 . . . . 0/1:-1066.92,0,-1454.31:1326:693:599:16995:21700 . 1/1:-889.237,-100.114,0:406:7:381:10459:200 . 1/1:-2570.88,-299.191,0:1159:15:1100:30404:413 0/1:-1059.15,0,-1305.39:1246:623:594:16628:19511 . . . 0/1:-1173.31,0,-1333.69:1371:663:667:18564:20420 1/1:-1588.01,-182.64,0:706:10:678:18733:277 0/1:-1071.78,0,-1111.52:1180:547:590:16402:16897 0/1:-1280.97,0,-1673.15:1597:809:742:20411:25076 0/1:-1393,0,-1328.84:1503:686:767:21287:21182 . . 0/1:-1312.97,0,-1657.92:1591:802:751:20760:24894 0/1:-746.411,0,-1104.47:1041:552:458:12412:16646 . 0/1:-1241.14,0,-1485.49:1469:714:721:19591:22294 . . 0/1:-1059.23,0,-1277.28:1255:627:606:16585:19331 0/1:-709.776,0,-754.746:832:397:411:11061:11991 0/1:-1377.46,0,-1786.27:1733:883:789:21988:26858 . 0/1:-639.253,0,-1187.87:1030:569:424:11149:17630 . 0/1:-1237.58,0,-1401.56:1411:692:691:19239:21281 0/1:-708.233,0,-971.078:954:488:439:11676:14784 0/1:-888.309,0,-1548.32:1309:733:551:15090:22699 . . . . . . . 0/1:-1295.61,0,-1526.48:1528:761:724:20369:23104 . 0/1:-1363.44,0,-1484.14:1578:740:791:21343:22691 . . 0/1:-1240.48,0,-1442.15:1464:714:709:19378:21812 0/1:-1336.64,0,-1555.86:1607:781:776:21060:24045 . . . . . 0/1:-1288.85,0,-1565.43:1531:760:726:20239:23613 . 1/1:-2940.08,-307.83,0:1399:37:1300:35586:1099 . 0/1:-1019.14,0,-1296.31:1237:634:558:15810:19550 . . . . 0/1:-1284.98,0,-1709.07:1427:774:635:19485:24463:774,635 1/1:-4056.56,-412.663,0:1609:23:1559:47414:720:23,1559 0/1:-1668.86,0,-1644.36:1594:774:804:24595:24524:774,804 . . . . 0/1:-1628.02,0,-1801.45:1653:836:794:24542:26670:836,794 . 1/1:-3434.65,-359.516,0:1372:16:1326:40158:505:16,1326 . 0/1:-1260.49,0,-1284.48:1222:598:613:18705:18881:598,613 . 0/1:-1302.8,0,-1659.09:1443:754:662:19918:24008:754,662 . . 0/1:-1739.03,0,-1587.17:1612:745:841:25517:23904:745,841 0/1:-1302.52,0,-1518.41:1356:695:638:19602:22132:695,638 . 0/1:-1465.33,0,-1739.14:1565:799:733:22214:25358:799,733 chr2 179448315 . A C 4469.93 . AB=0.479769;ABP=4.85542;AC=2;AF=0.5;AN=4;AO=249;CIGAR=1X;DP=1069;DPB=519;DPRA=0;EPP=3.71668;EPPR=3.1419;GTI=0;LEN=1;MEANALT=3;MQM=39.4217;MQMR=39.0076;NS=1;NUMALT=1;ODDS=992.534;PAIRED=0.975904;PAIREDR=0.984848;PAO=0;PQA=0;PQR=0;PRO=0;QA=7257;QR=8017;RO=264;RPL=57;RPP=161.946;RPPR=168.865;RPR=192;RUN=1;SAF=167;SAP=66.0179;SAR=82;SF=0;SRF=187;SRP=102.536;SRR=77;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0279;esp6500siv2_ea=0.0227;esp6500siv2_all=0.0279;esp6500siv2_ea=0.0227;1000g2015aug_all=0.0391374;avsnp147=rs72646865;Kaviar_AF=0.0308664;Kaviar_AC=4772;Kaviar_AN=154602;ExAC_ALL=0.0473;ExAC_AFR=0.0491;ExAC_AMR=0.0584;ExAC_EAS=0.0846;ExAC_FIN=0.0649;ExAC_NFE=0.0375;ExAC_OTH=0.0302;ExAC_SAS=0.0544;CLNALLELEID=141503;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0805;dpsi_zscore=-0.386;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0324;gnomAD_exome_AFR=0.0397;gnomAD_exome_AMR=0.0368;gnomAD_exome_ASJ=0.0159;gnomAD_exome_EAS=0.0604;gnomAD_exome_FIN=0.0486;gnomAD_exome_NFE=0.0248;gnomAD_exome_OTH=0.0294;gnomAD_exome_SAS=0.0271;gnomAD_genome_ALL=0.0343;gnomAD_genome_AFR=0.0375;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0593;gnomAD_genome_FIN=0.0544;gnomAD_genome_NFE=0.0255;gnomAD_genome_OTH=0.0377;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-461.669,0,-522.066:519:264:249:7257:8017 . . . . . . . . . . . . . . . . . . . 0/1:-495.167,0,-538.032:550:275:269:7873:8174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179448395 . G A 8118.97 . AB=0.47593;ABP=7.60983;AC=1;AF=0.5;AN=2;AO=435;CIGAR=1X;DP=914;DPB=914;DPRA=0;EPP=5.21172;EPPR=8.05238;GTI=0;LEN=1;MEANALT=3;MQM=38.3034;MQMR=38.5714;NS=1;NUMALT=1;ODDS=1869.46;PAIRED=0.926437;PAIREDR=0.923241;PAO=0;PQA=0;PQR=0;PRO=0;QA=13082;QR=14181;RO=469;RPL=173;RPP=42.5511;RPPR=34.9064;RPR=262;RUN=1;SAF=246;SAP=19.229;SAR=189;SF=0;SRF=251;SRP=8.05238;SRR=218;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon140:c.C38319T:p.T12773T,TTN:NM_133432:exon141:c.C38694T:p.T12898T,TTN:NM_133437:exon141:c.C38895T:p.T12965T,TTN:NM_133378:exon261:c.C57810T:p.T19270T,TTN:NM_001256850:exon262:c.C60591T:p.T20197T,TTN:NM_001267550:exon312:c.C65514T:p.T21838T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs372543748;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.383e-05;ExAC_AFR=0;ExAC_AMR=9.526e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.602e-05;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=449668;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0163;dpsi_zscore=-0.080;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.326e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.908e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.711e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-825.819,0,-922.647:914:469:435:13082:14181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179449186 . G A 11250.20 . AB=0.514368;ABP=4.88226;AC=1;AF=0.5;AN=2;AO=537;CIGAR=1X;DP=1044;DPB=1044;DPRA=0;EPP=10.4871;EPPR=16.8512;GTI=0;LEN=1;MEANALT=3;MQM=39.7244;MQMR=39.937;NS=1;NUMALT=1;ODDS=2332.14;PAIRED=0.959032;PAIREDR=0.941057;PAO=0;PQA=0;PQR=0;PRO=0;QA=16939;QR=15596;RO=492;RPL=319;RPP=44.2602;RPPR=50.7474;RPR=218;RUN=1;SAF=241;SAP=15.2425;SAR=296;SF=1;SRF=222;SRP=13.1791;SRR=270;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon139:c.C37897T:p.R12633C,TTN:NM_133432:exon140:c.C38272T:p.R12758C,TTN:NM_133437:exon140:c.C38473T:p.R12825C,TTN:NM_133378:exon260:c.C57388T:p.R19130C,TTN:NM_001256850:exon261:c.C60169T:p.R20057C,TTN:NM_001267550:exon311:c.C65092T:p.R21698C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0028;1000g2015aug_all=0.0129792;avsnp147=rs72646861;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0002;ExAC_AMR=0.0022;ExAC_EAS=0.0192;ExAC_FIN=0.0006;ExAC_NFE=0.0036;ExAC_OTH=0.0089;ExAC_SAS=0.0377;CLNALLELEID=56381;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.984;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.405;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_pred=T;PROVEAN_score=-6.03;PROVEAN_pred=D;VEST3_score=0.508;CADD_raw=4.103;CADD_phred=23.7;DANN_score=0.896;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.451;MetaSVM_pred=T;MetaLR_score=0.239;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.08;phyloP7way_vertebrate=0.866;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.665;GDI_full_10282015=.;dpsi_max_tissue=-0.0027;dpsi_zscore=0.009;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1510296#"Neuromuscular_disorder";gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0192;gnomAD_exome_EAS=0.0199;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0026;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0360;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0192;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1139.55,0,-1028.4:1044:492:537:16939:15596:492,537 . . . . . . . . . . . . . . . . . . chr2 179449579 . C T 11461.20 . AB=0.462908;ABP=19.1191;AC=1;AF=0.5;AN=2;AO=624;CIGAR=1X;DP=1348;DPB=1348;DPRA=0;EPP=51.4648;EPPR=116.291;GTI=0;LEN=1;MEANALT=3;MQM=37.4439;MQMR=37.4523;NS=1;NUMALT=1;ODDS=2639.03;PAIRED=0.940705;PAIREDR=0.933526;PAO=0;PQA=0;PQR=0;PRO=0;QA=18906;QR=21859;RO=692;RPL=393;RPP=94.3374;RPPR=118.688;RPR=231;RUN=1;SAF=286;SAP=12.42;SAR=338;SF=0;SRF=335;SRP=4.52908;SRR=357;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon138:c.G37594A:p.V12532M,TTN:NM_133432:exon139:c.G37969A:p.V12657M,TTN:NM_133437:exon139:c.G38170A:p.V12724M,TTN:NM_133378:exon259:c.G57085A:p.V19029M,TTN:NM_001256850:exon260:c.G59866A:p.V19956M,TTN:NM_001267550:exon310:c.G64789A:p.V21597M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs150661999;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0232;CLNALLELEID=56378;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.61;MutationAssessor_pred=H;FATHMM_score=-0.35;FATHMM_pred=T;PROVEAN_score=-2.23;PROVEAN_pred=N;VEST3_score=0.344;CADD_raw=2.898;CADD_phred=21.8;DANN_score=0.976;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_pred=D;MetaSVM_score=0.409;MetaSVM_pred=D;MetaLR_score=0.629;MetaLR_pred=D;integrated_fitCons_score=0.526;integrated_confidence_value=0;GERP++_RS=6.03;phyloP7way_vertebrate=-0.041;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.309;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=20.557;GDI_full_10282015=.;dpsi_max_tissue=0.1673;dpsi_zscore=0.656;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.819e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0219;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1170.05,0,-1393.24:1348:692:624:18906:21859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179451420 . G A 8593.80 . AB=0.483249;ABP=5.41104;AC=52;AF=0.5;AN=90;AO=476;CIGAR=1X;DP=34046;DPB=985;DPRA=0;EPP=89.8874;EPPR=165.757;GTI=0;LEN=1;MEANALT=3;MQM=38.1408;MQMR=39.1147;NS=1;NUMALT=1;ODDS=2095.28;PAIRED=0.936975;PAIREDR=0.94165;PAO=0;PQA=0;PQR=0;PRO=0;QA=14631;QR=15728;RO=497;RPL=258;RPP=10.3094;RPPR=33.1094;RPR=218;RUN=1;SAF=233;SAP=3.46649;SAR=243;SF=0,1;SRF=223;SRP=14.3745;SRR=274;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon136:c.C37013T:p.T12338I,TTN:NM_133432:exon137:c.C37388T:p.T12463I,TTN:NM_133437:exon137:c.C37589T:p.T12530I,TTN:NM_133378:exon257:c.C56504T:p.T18835I,TTN:NM_001256850:exon258:c.C59285T:p.T19762I,TTN:NM_001267550:exon308:c.C64208T:p.T21403I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3123;esp6500siv2_ea=0.2197;esp6500siv2_all=0.3123;esp6500siv2_ea=0.2197;1000g2015aug_all=0.507588;avsnp147=rs2042996;Kaviar_AF=0.336522;Kaviar_AC=52027;Kaviar_AN=154602;ExAC_ALL=0.3509;ExAC_AFR=0.5301;ExAC_AMR=0.4320;ExAC_EAS=0.7027;ExAC_FIN=0.2768;ExAC_NFE=0.2301;ExAC_OTH=0.3311;ExAC_SAS=0.5251;CLNALLELEID=56374;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-3.385;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_pred=T;PROVEAN_score=2.99;PROVEAN_pred=N;VEST3_score=0.128;CADD_raw=3.015;CADD_phred=22.3;DANN_score=0.769;fathmm-MKL_coding_score=0.200;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.907;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.244;phastCons7way_vertebrate=0.977;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=12.366;GDI_full_10282015=.;dpsi_max_tissue=-0.0156;dpsi_zscore=-0.076;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3508;gnomAD_exome_AFR=0.5294;gnomAD_exome_AMR=0.4281;gnomAD_exome_ASJ=0.2848;gnomAD_exome_EAS=0.7073;gnomAD_exome_FIN=0.2782;gnomAD_exome_NFE=0.2241;gnomAD_exome_OTH=0.3079;gnomAD_exome_SAS=0.5185;gnomAD_genome_ALL=0.3473;gnomAD_genome_AFR=0.5238;gnomAD_genome_AMR=0.4151;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.7001;gnomAD_genome_FIN=0.2675;gnomAD_genome_NFE=0.2281;gnomAD_genome_OTH=0.3006;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-927.54,0,-1041.71:985:497:476:14631:15728 . . . . . . 0/1:-765.748,0,-818.78:757:372:375:11857:12158 . . 0/1:-716.657,0,-804.696:734:373:350:10868:12009 0/1:-707.671,0,-858.1:765:395:353:11199:12806 . . . 0/1:-587.576,0,-726.916:657:346:301:9509:11076 . . 1/1:-1437.83,-158.314,0:561:3:551:17268:95 0/1:-602.036,0,-597.86:581:274:303:9353:9000 0/1:-976.334,0,-956.585:962:464:486:15253:14822 . . . . . 0/1:-768.029,0,-979.382:859:461:387:11986:14616 0/1:-650.467,0,-639.548:670:316:342:10517:10176 . . 0/1:-1010.63,0,-1132.27:1079:552:501:15841:17343 . . . . . 0/1:-770.226,0,-952.272:830:437:382:12215:14246 . 1/1:-614.202,-61.7557,0:247:4:238:7366:125 . 1/1:-1592.12,-173.345,0:628:5:613:19084:149 0/1:-803.094,0,-879.917:822:414:397:12574:13358 . . . 0/1:-879.605,0,-763.81:812:380:422:13456:11919 1/1:-1271.49,-142.296,0:483:1:474:15059:21 0/1:-623.084,0,-773.094:675:367:298:9730:11870 0/1:-971.958,0,-1028.9:974:490:472:14952:15720 0/1:-827.042,0,-796.662:789:377:398:12437:12181 . . 0/1:-830.11,0,-879.237:828:414:400:12732:13382 0/1:-592.239,0,-700.127:666:354:301:9457:10868 . 0/1:-770.097,0,-899.163:816:421:384:12036:13547 . . . 0/1:-581.461,0,-574.947:584:286:289:8975:9055 0/1:-982.044,0,-1116.2:1026:526:488:15432:16866 . 0/1:-571.449,0,-753.917:675:363:302:9368:11546 . 0/1:-780.688,0,-967.96:824:434:384:12086:14157 0/1:-390.326,0,-455.798:457:229:219:6687:7206 0/1:-929.626,0,-911.066:901:443:444:14143:14265 . . . . . . . 0/1:-873.95,0,-974.555:937:468:448:13816:14926 . 0/1:-940.752,0,-1114.43:1010:524:474:14889:16674 . . 0/1:-851.907,0,-810.402:793:382:398:12770:12279 0/1:-924.643,0,-1014.28:968:484:471:14361:15353 . . . . . 0/1:-887.587,0,-1033.78:916:469:441:13962:15386 . 1/1:-2047.29,-204.875,0:818:13:791:24746:438 . 0/1:-674.354,0,-866.566:751:406:338:10639:12852 . . . . 0/1:-668.474,0,-851.943:714:379:319:10187:12367:379,319 1/1:-2191.21,-215.635,0:827:11:808:25710:349:11,808 0/1:-829.753,0,-970.08:838:434:392:12412:14081:434,392 . . . . 0/1:-806.532,0,-706.543:723:336:377:11895:10633:336,377 . 1/1:-1642.66,-166.243,0:620:6:603:19352:194:6,603 . 0/1:-560.073,0,-557.812:524:260:255:8244:8211:260,255 . 0/1:-617.992,0,-723.796:630:329:294:9281:10526:329,294 . . . 0/1:-676.305,0,-852.926:693:373:313:10210:12121:373,313 . 0/1:-722.54,0,-654.631:637:301:328:10551:9745:301,328 chr2 179451906 . G A 6938.10 . AB=0.508301;ABP=3.47898;AC=4;AF=0.5;AN=8;AO=398;CIGAR=1X;DP=3044;DPB=783;DPRA=0;EPP=5.19268;EPPR=3.01622;GTI=0;LEN=1;MEANALT=3;MQM=36.3593;MQMR=40.0872;NS=1;NUMALT=1;ODDS=1641.18;PAIRED=0.944724;PAIREDR=0.953678;PAO=0;PQA=0;PQR=0;PRO=0;QA=11816;QR=11354;RO=367;RPL=156;RPP=43.3626;RPPR=20.9087;RPR=242;RUN=1;SAF=249;SAP=57.5699;SAR=149;SF=0;SRF=208;SRP=17.2166;SRR=159;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon135:c.C36837T:p.N12279N,TTN:NM_133432:exon136:c.C37212T:p.N12404N,TTN:NM_133437:exon136:c.C37413T:p.N12471N,TTN:NM_133378:exon256:c.C56328T:p.N18776N,TTN:NM_001256850:exon257:c.C59109T:p.N19703N,TTN:NM_001267550:exon307:c.C64032T:p.N21344N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0053;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0053;1000g2015aug_all=0.0131789;avsnp147=rs72646857;Kaviar_AF=0.0091525;Kaviar_AC=1415;Kaviar_AN=154602;ExAC_ALL=0.0102;ExAC_AFR=0.0010;ExAC_AMR=0.0017;ExAC_EAS=0.0353;ExAC_FIN=0.0094;ExAC_NFE=0.0060;ExAC_OTH=0.0089;ExAC_SAS=0.0258;CLNALLELEID=56370;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0259;dpsi_zscore=-0.141;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0096;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0.0354;gnomAD_exome_FIN=0.0105;gnomAD_exome_NFE=0.0058;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0246;gnomAD_genome_ALL=0.0065;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0407;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0059;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-730.538,0,-748.506:783:367:398:11816:11354 . . . . . . . . . . . . . . 0/1:-919.833,0,-1009.78:1013:507:486:14682:15535 . . . . . . . . . . . . . . . . . 0/1:-337.278,0,-207.902:286:113:164:4920:3468 . . . 0/1:-868.962,0,-956.123:962:484:459:13644:14742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179453429 . G A 6013.33 . AB=0.497674;ABP=3.0406;AC=1;AF=0.5;AN=2;AO=321;CIGAR=1X;DP=645;DPB=645;DPRA=0;EPP=49.6124;EPPR=59.026;GTI=0;LEN=1;MEANALT=3;MQM=37.0498;MQMR=38.4777;NS=1;NUMALT=1;ODDS=1384.62;PAIRED=0.971963;PAIREDR=0.984076;PAO=0;PQA=0;PQR=0;PRO=0;QA=10052;QR=9777;RO=314;RPL=93;RPP=126.297;RPPR=61.5432;RPR=228;RUN=1;SAF=191;SAP=28.1818;SAR=130;SF=0;SRF=177;SRP=14.0751;SRR=137;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C35828T:p.T11943I,TTN:NM_133432:exon133:c.C36203T:p.T12068I,TTN:NM_133437:exon133:c.C36404T:p.T12135I,TTN:NM_133378:exon253:c.C55319T:p.T18440I,TTN:NM_001256850:exon254:c.C58100T:p.T19367I,TTN:NM_001267550:exon304:c.C63023T:p.T21008I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0163;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0163;1000g2015aug_all=0.00579073;avsnp147=rs72646850;Kaviar_AF=0.0097153;Kaviar_AC=1502;Kaviar_AN=154602;ExAC_ALL=0.0094;ExAC_AFR=0.0023;ExAC_AMR=0.0099;ExAC_EAS=0;ExAC_FIN=0.0030;ExAC_NFE=0.0143;ExAC_OTH=0.0122;ExAC_SAS=0.0006;CLNALLELEID=56353;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.486;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.06;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=0.5;PROVEAN_pred=N;VEST3_score=0.122;CADD_raw=-0.383;CADD_phred=0.424;DANN_score=0.714;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.048;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-6.48;phyloP7way_vertebrate=-0.310;phyloP20way_mammalian=-0.648;phastCons7way_vertebrate=0.843;phastCons20way_mammalian=0.079;SiPhy_29way_logOdds=19.640;GDI_full_10282015=.;dpsi_max_tissue=0.0768;dpsi_zscore=0.406;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0090;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0105;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0024;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0141;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0127;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-628.806,0,-628.661:645:314:321:10052:9777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179453458 . G A 8614.36 . AB=0.455394;ABP=19.6703;AC=1;AF=0.5;AN=2;AO=439;CIGAR=1X;DP=964;DPB=964;DPRA=0;EPP=3.60882;EPPR=84.4149;GTI=0;LEN=1;MEANALT=3;MQM=38.7517;MQMR=38.9193;NS=1;NUMALT=1;ODDS=1983.53;PAIRED=0.977221;PAIREDR=0.964567;PAO=0;PQA=0;PQR=0;PRO=0;QA=13736;QR=16337;RO=508;RPL=231;RPP=5.62695;RPPR=3.0274;RPR=208;RUN=1;SAF=230;SAP=5.19167;SAR=209;SF=0;SRF=276;SRP=11.2858;SRR=232;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C35799T:p.Y11933Y,TTN:NM_133432:exon133:c.C36174T:p.Y12058Y,TTN:NM_133437:exon133:c.C36375T:p.Y12125Y,TTN:NM_133378:exon253:c.C55290T:p.Y18430Y,TTN:NM_001256850:exon254:c.C58071T:p.Y19357Y,TTN:NM_001267550:exon304:c.C62994T:p.Y20998Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs375006117;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56352;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0370;dpsi_zscore=-0.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.967e-05;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.977e-05;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-870.911,0,-1089.49:964:508:439:13736:16337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179453636 . C T 5562.88 . AB=0.505728;ABP=3.18444;AC=1;AF=0.5;AN=2;AO=309;CIGAR=1X;DP=611;DPB=611;DPRA=0;EPP=16.004;EPPR=10.231;GTI=0;LEN=1;MEANALT=3;MQM=36.6278;MQMR=37.9931;NS=1;NUMALT=1;ODDS=1207.49;PAIRED=0.964401;PAIREDR=0.958478;PAO=0;PQA=0;PQR=0;PRO=0;QA=9194;QR=8601;RO=289;RPL=203;RPP=69.1313;RPPR=47.5593;RPR=106;RUN=1;SAF=151;SAP=3.35464;SAR=158;SF=0;SRF=123;SRP=16.9032;SRR=166;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.G35621A:p.R11874H,TTN:NM_133432:exon133:c.G35996A:p.R11999H,TTN:NM_133437:exon133:c.G36197A:p.R12066H,TTN:NM_133378:exon253:c.G55112A:p.R18371H,TTN:NM_001256850:exon254:c.G57893A:p.R19298H,TTN:NM_001267550:exon304:c.G62816A:p.R20939H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777095470;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.384e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.587e-05;ExAC_OTH=0;ExAC_SAS=6.084e-05;CLNALLELEID=517006;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.755;MutationAssessor_pred=M;FATHMM_score=0.34;FATHMM_pred=T;PROVEAN_score=-3.7;PROVEAN_pred=D;VEST3_score=0.534;CADD_raw=4.103;CADD_phred=23.7;DANN_score=0.931;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.190;MetaSVM_pred=T;MetaLR_score=0.423;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=20.860;GDI_full_10282015=.;dpsi_max_tissue=-0.0831;dpsi_zscore=-0.395;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.043e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.991e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.707e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.251e-05;gnomAD_genome_ALL=6.474e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-571.986,0,-538.63:611:289:309:9194:8601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179453929 . T C 4637.89 . AB=0.464856;ABP=9.72591;AC=1;AF=0.5;AN=2;AO=291;CIGAR=1X;DP=626;DPB=626;DPRA=0;EPP=27.2547;EPPR=53.7834;GTI=0;LEN=1;MEANALT=3;MQM=36.8866;MQMR=37.0971;NS=1;NUMALT=1;ODDS=1067.91;PAIRED=0.907216;PAIREDR=0.967638;PAO=0;PQA=0;PQR=0;PRO=0;QA=7924;QR=9113;RO=309;RPL=163;RPP=12.1514;RPPR=11.6189;RPR=128;RUN=1;SAF=150;SAP=3.61473;SAR=141;SF=0;SRF=152;SRP=3.18599;SRR=157;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.A35328G:p.K11776K,TTN:NM_133432:exon133:c.A35703G:p.K11901K,TTN:NM_133437:exon133:c.A35904G:p.K11968K,TTN:NM_133378:exon253:c.A54819G:p.K18273K,TTN:NM_001256850:exon254:c.A57600G:p.K19200K,TTN:NM_001267550:exon304:c.A62523G:p.K20841K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1619;dpsi_zscore=-0.607;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-474.789,0,-556.79:626:309:291:7924:9113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179454342 . G C 9740.27 . AB=0.524798;ABP=7.64127;AC=1;AF=0.5;AN=2;AO=455;CIGAR=1X;DP=867;DPB=867;DPRA=0;EPP=16.4162;EPPR=22.1467;GTI=0;LEN=1;MEANALT=3;MQM=39.967;MQMR=40.6;NS=1;NUMALT=1;ODDS=1836.02;PAIRED=0.962637;PAIREDR=0.977215;PAO=0;PQA=0;PQR=0;PRO=0;QA=14439;QR=12309;RO=395;RPL=206;RPP=11.8346;RPPR=10.5362;RPR=249;RUN=1;SAF=242;SAP=7.02394;SAR=213;SF=1;SRF=200;SRP=3.14773;SRR=195;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C34915G:p.H11639D,TTN:NM_133432:exon133:c.C35290G:p.H11764D,TTN:NM_133437:exon133:c.C35491G:p.H11831D,TTN:NM_133378:exon253:c.C54406G:p.H18136D,TTN:NM_001256850:exon254:c.C57187G:p.H19063D,TTN:NM_001267550:exon304:c.C62110G:p.H20704D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=491957;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.202;SIFT_pred=T;Polyphen2_HDIV_score=0.852;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.388;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.18;MutationAssessor_pred=L;FATHMM_score=0.49;FATHMM_pred=T;PROVEAN_score=-5.64;PROVEAN_pred=D;VEST3_score=0.688;CADD_raw=1.810;CADD_phred=15.05;DANN_score=0.800;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.839;MetaSVM_pred=T;MetaLR_score=0.167;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=20.860;GDI_full_10282015=.;dpsi_max_tissue=0.1019;dpsi_zscore=0.489;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-985.414,0,-808.726:867:395:455:14439:12309:395,455 . . . . . . . . . . . . . . chr2 179454394 . A G 10081.74 . AB=0.453642;ABP=25.5591;AC=54;AF=0.5;AN=94;AO=548;CIGAR=1X;DP=44186;DPB=1208;DPRA=0;EPP=54.5075;EPPR=22.5468;GTI=0;LEN=1;MEANALT=3;MQM=38.4416;MQMR=38.5405;NS=1;NUMALT=1;ODDS=2341.58;PAIRED=0.967153;PAIREDR=0.970405;PAO=0;PQA=0;PQR=0;PRO=0;QA=16702;QR=19818;RO=642;RPL=208;RPP=72.0536;RPPR=26.8762;RPR=340;RUN=1;SAF=329;SAP=50.957;SAR=219;SF=0,1;SRF=368;SRP=32.8968;SRR=274;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.T34863C:p.Y11621Y,TTN:NM_133432:exon133:c.T35238C:p.Y11746Y,TTN:NM_133437:exon133:c.T35439C:p.Y11813Y,TTN:NM_133378:exon253:c.T54354C:p.Y18118Y,TTN:NM_001256850:exon254:c.T57135C:p.Y19045Y,TTN:NM_001267550:exon304:c.T62058C:p.Y20686Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3207;esp6500siv2_ea=0.2249;esp6500siv2_all=0.3207;esp6500siv2_ea=0.2249;1000g2015aug_all=0.51238;avsnp147=rs1560221;Kaviar_AF=0.335668;Kaviar_AC=51895;Kaviar_AN=154602;ExAC_ALL=0.3540;ExAC_AFR=0.5417;ExAC_AMR=0.4333;ExAC_EAS=0.7048;ExAC_FIN=0.2774;ExAC_NFE=0.2326;ExAC_OTH=0.3333;ExAC_SAS=0.5265;CLNALLELEID=56344;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0300;dpsi_zscore=0.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3546;gnomAD_exome_AFR=0.5427;gnomAD_exome_AMR=0.4319;gnomAD_exome_ASJ=0.2875;gnomAD_exome_EAS=0.7097;gnomAD_exome_FIN=0.2791;gnomAD_exome_NFE=0.2270;gnomAD_exome_OTH=0.3128;gnomAD_exome_SAS=0.5201;gnomAD_genome_ALL=0.3525;gnomAD_genome_AFR=0.5361;gnomAD_genome_AMR=0.4125;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.7026;gnomAD_genome_FIN=0.2682;gnomAD_genome_NFE=0.2314;gnomAD_genome_OTH=0.3051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1043.54,0,-1296.1:1208:642:548:16702:19818 . . . . . . 0/1:-773.827,0,-983.929:901:486:404:12291:14839 . . 0/1:-827.457,0,-942.246:917:462:445:12976:14552 0/1:-779.951,0,-917.531:879:456:407:12540:14189 . . . 0/1:-687.94,0,-682.382:726:345:367:10806:10674 . . 1/1:-1557.75,-183.252,0:666:6:641:18807:146 0/1:-630.143,0,-602.117:674:316:343:9917:9682 0/1:-1071.51,0,-1187.6:1153:583:556:16857:18161 . . . . . 0/1:-929.531,0,-1027.12:1037:525:492:14740:16107 0/1:-654.131,0,-680.21:717:356:351:10503:10961 . . 0/1:-1118.33,0,-1358.36:1289:658:607:18086:20690 0/1:-1007.11,0,-1154.03:1103:561:521:15821:17667 . . . . 0/1:-947.526,0,-988.275:999:494:491:14943:15334 . 1/1:-612.15,-61.8088,0:276:7:262:7576:217 . 1/1:-1969.73,-204.888,0:823:15:792:23896:440 0/1:-878.151,0,-1013.08:974:499:462:13926:15482 . . . 0/1:-862.799,0,-1003.85:978:505:455:13649:15748 1/1:-1464.63,-157.937,0:620:10:596:17897:290 0/1:-741.453,0,-971.627:863:468:381:11732:14553 0/1:-1059.81,0,-1283.93:1219:627:573:16933:19788 0/1:-1063.21,0,-1041.96:1065:519:532:16337:16132 . . 0/1:-1183.94,0,-1107.87:1168:550:602:18263:17351 0/1:-612.957,0,-664.202:687:337:338:9808:10413 . 0/1:-1035.76,0,-1096.45:1122:549:550:16295:17195 . . . 0/1:-498.301,0,-558.31:584:292:277:8151:9018 0/1:-985.278,0,-1419.23:1241:676:543:16231:21307 . 0/1:-640.846,0,-682.149:704:351:342:10227:10856 . 0/1:-890.544,0,-1129.48:1022:534:472:14139:16866 0/1:-535.192,0,-595.604:611:309:296:8549:9587 0/1:-957.714,0,-973.015:986:487:488:14958:15211 . . . . . . . 0/1:-903.055,0,-1019.19:1032:505:497:14453:15906 . 0/1:-1037.03,0,-1196.61:1170:588:559:16570:18334 . . 0/1:-913.7,0,-1094.88:1037:523:495:14913:16589 0/1:-914.26,0,-1302.77:1165:624:520:15204:19543 . . . . . 0/1:-1012.83,0,-1006.81:1067:512:535:15929:15865 . 1/1:-2374.87,-265.596,0:1002:14:967:28738:355 . 0/1:-863.247,0,-817.035:870:413:442:13371:12823 . . . . 0/1:-1088.54,0,-1036:1019:486:509:16069:15672:486,509 1/1:-2679.72,-260.255,0:1036:17:1000:31918:520:17,1000 0/1:-1098.75,0,-1282.71:1128:585:525:16774:18956:585,525 . . . . 0/1:-1038.46,0,-1117.28:1042:524:506:15833:16838:524,506 . 1/1:-2051.01,-186.931,0:809:18:780:24637:605:18,780 . 0/1:-856.958,0,-875.973:803:396:399:12768:12880:396,399 . 0/1:-1058.14,0,-1016.67:972:474:485:15612:15243:474,485 . . 0/1:-1123.81,0,-1047.78:1037:485:536:16761:15681:485,536 0/1:-912.302,0,-1097.21:944:490:440:14192:16028:490,440 . 0/1:-818.718,0,-976.17:841:440:395:12554:14387:440,395 chr2 179454770 . G C 3801.99 . AB=0.490654;ABP=3.33501;AC=1;AF=0.5;AN=2;AO=210;CIGAR=1X;DP=428;DPB=428;DPRA=0;EPP=183.18;EPPR=127.451;GTI=0;LEN=1;MEANALT=3;MQM=37.0667;MQMR=36.6279;NS=1;NUMALT=1;ODDS=875.44;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6648;QR=6917;RO=215;RPL=136;RPP=42.7586;RPPR=11.5043;RPR=74;RUN=1;SAF=77;SAP=35.4376;SAR=133;SF=0;SRF=83;SRP=27.2601;SRR=132;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon132:c.C34487G:p.S11496X,TTN:NM_133432:exon133:c.C34862G:p.S11621X,TTN:NM_133437:exon133:c.C35063G:p.S11688X,TTN:NM_133378:exon253:c.C53978G:p.S17993X,TTN:NM_001256850:exon254:c.C56759G:p.S18920X,TTN:NM_001267550:exon304:c.C61682G:p.S20561X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=260518;CLNDN=Dilated_cardiomyopathy_1S;CLNDISDB=MedGen:C1834481,OMIM:613426;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=22.101;CADD_phred=62;DANN_score=0.977;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.21;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.135;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.984;SiPhy_29way_logOdds=8.896;GDI_full_10282015=.;dpsi_max_tissue=-58.3246;dpsi_zscore=-3.602;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-414.02,0,-426.121:428:215:210:6648:6917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179455207 . T C 9361.09 . AB=0.445127;ABP=32.7989;AC=54;AF=0.5;AN=94;AO=507;CIGAR=1X;DP=44403;DPB=1139;DPRA=0;EPP=11.6833;EPPR=22.1372;GTI=0;LEN=1;MEANALT=3;MQM=37.7594;MQMR=38.3752;NS=1;NUMALT=1;ODDS=2012.79;PAIRED=0.95069;PAIREDR=0.950413;PAO=0;PQA=0;PQR=0;PRO=0;QA=14796;QR=18752;RO=605;RPL=322;RPP=83.3976;RPPR=55.5599;RPR=185;RUN=1;SAF=228;SAP=14.1503;SAR=279;SF=0,1;SRF=290;SRP=5.25356;SRR=315;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.A34050G:p.T11350T,TTN:NM_133432:exon133:c.A34425G:p.T11475T,TTN:NM_133437:exon133:c.A34626G:p.T11542T,TTN:NM_133378:exon253:c.A53541G:p.T17847T,TTN:NM_001256850:exon254:c.A56322G:p.T18774T,TTN:NM_001267550:exon304:c.A61245G:p.T20415T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3194;esp6500siv2_ea=0.2242;esp6500siv2_all=0.3194;esp6500siv2_ea=0.2242;1000g2015aug_all=0.51238;avsnp147=rs2163009;Kaviar_AF=0.339491;Kaviar_AC=52486;Kaviar_AN=154602;ExAC_ALL=0.3544;ExAC_AFR=0.5435;ExAC_AMR=0.4338;ExAC_EAS=0.7050;ExAC_FIN=0.2776;ExAC_NFE=0.2330;ExAC_OTH=0.3341;ExAC_SAS=0.5271;CLNALLELEID=56335;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0664;dpsi_zscore=0.367;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3543;gnomAD_exome_AFR=0.5432;gnomAD_exome_AMR=0.4320;gnomAD_exome_ASJ=0.2872;gnomAD_exome_EAS=0.7097;gnomAD_exome_FIN=0.2788;gnomAD_exome_NFE=0.2269;gnomAD_exome_OTH=0.3130;gnomAD_exome_SAS=0.5202;gnomAD_genome_ALL=0.3526;gnomAD_genome_AFR=0.5360;gnomAD_genome_AMR=0.4127;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.7025;gnomAD_genome_FIN=0.2680;gnomAD_genome_NFE=0.2315;gnomAD_genome_OTH=0.3018;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-894.098,0,-1220.83:1139:605:507:14796:18752 . . . . . . 0/1:-738.378,0,-898.158:854:430:411:11691:13627 . . 0/1:-837.224,0,-907.126:949:470:457:13284:14274 0/1:-762.548,0,-939.844:908:471:423:12230:14732 . . . 0/1:-531.033,0,-815.824:751:406:329:9093:12483 . . 1/1:-1539.14,-186.989,0:704:8:670:18825:214 0/1:-536.287,0,-789.385:716:387:312:8902:11828 0/1:-959.089,0,-1106.5:1131:551:537:15465:17191 . . . . . 0/1:-890.726,0,-1085.48:1029:521:489:14243:16525 0/1:-570.297,0,-611.877:645:309:321:9189:9549 . . 0/1:-935.303,0,-1387.16:1223:672:526:15380:20794 0/1:-841.136,0,-932.473:967:473:479:13648:14754 . . . . 0/1:-895.915,0,-936.18:984:475:485:14254:14690 . 1/1:-692.253,-81.4906,0:303:3:293:8403:86 . 1/1:-1892.65,-199.453,0:845:17:801:23052:538 0/1:-855.773,0,-1048.96:1022:512:483:13790:16213 . . . 0/1:-843.504,0,-1059.56:1025:528:472:13711:16398 1/1:-1218.54,-141.489,0:529:4:507:14965:140 0/1:-581.159,0,-942.758:777:436:332:9671:14027 0/1:-951.218,0,-1228.06:1144:591:530:15319:18587 0/1:-865.554,0,-1151.52:1061:554:479:13928:17326 . . 0/1:-932.959,0,-1247.58:1173:612:535:15301:19090 0/1:-457.392,0,-741.5:688:379:284:8122:11461 . 0/1:-895.612,0,-1057.21:1039:530:488:14292:16533 . . . 0/1:-435.658,0,-656.512:654:347:288:7802:10507 0/1:-965.656,0,-1502.17:1308:713:560:16091:22509 . 0/1:-530.016,0,-609.275:643:320:298:8518:9633 . 0/1:-916.248,0,-1093.94:1054:539:492:14607:16625 0/1:-439.838,0,-552.781:571:291:261:7252:8789 0/1:-858.627,0,-1087.6:1052:534:489:14003:16705 . . . . . . . 0/1:-863.301,0,-1122.06:1099:569:501:14448:17701 . 0/1:-951.134,0,-1189.1:1128:575:528:15346:18029 . . 0/1:-1073.97,0,-1101.94:1186:568:596:17106:17607 0/1:-1026.67,0,-1190.23:1210:598:578:16490:18801 . . . . . 0/1:-794.966,0,-1051.81:1021:524:459:13204:16347 . 1/1:-2198.52,-221.197,0:992:32:930:27182:882 . 0/1:-707.146,0,-903.822:858:441:400:11423:13777 . . . . 0/1:-1078.87,0,-1281.18:1135:585:532:16371:18740:585,532 1/1:-2723.96,-300.127,0:1062:7:1035:31585:177:7,1035 0/1:-1062.52,0,-1328.64:1153:607:523:16202:19319:607,523 . . . . 0/1:-1084.88,0,-1182.86:1097:552:526:16338:17583:552,526 . 1/1:-2250.68,-234.696,0:898:13:872:26788:384:13,872 . 0/1:-888.939,0,-915.819:870:432:423:13345:13714:432,423 . 0/1:-766.347,0,-1145.92:939:523:395:12107:16574:523,395 . . 0/1:-944.354,0,-1077.86:984:496:470:14305:16031:496,470 0/1:-823.838,0,-1079.89:941:502:418:12821:15788:502,418 . 0/1:-948.552,0,-1028.15:942:480:450:14290:15117:480,450 chr2 179455631 . G A 12112.00 . AB=0.481603;ABP=6.60575;AC=1;AF=0.5;AN=2;AO=589;CIGAR=1X;DP=1223;DPB=1223;DPRA=0;EPP=76.3058;EPPR=99.2114;GTI=0;LEN=1;MEANALT=3;MQM=40.5569;MQMR=40.3006;NS=1;NUMALT=1;ODDS=2788.9;PAIRED=0.976231;PAIREDR=0.96463;PAO=0;PQA=0;PQR=0;PRO=0;QA=18354;QR=19873;RO=622;RPL=329;RPP=20.5627;RPPR=56.6897;RPR=260;RUN=1;SAF=274;SAP=9.20766;SAR=315;SF=1;SRF=285;SRP=12.4503;SRR=337;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C33626T:p.P11209L,TTN:NM_133432:exon133:c.C34001T:p.P11334L,TTN:NM_133437:exon133:c.C34202T:p.P11401L,TTN:NM_133378:exon253:c.C53117T:p.P17706L,TTN:NM_001256850:exon254:c.C55898T:p.P18633L,TTN:NM_001267550:exon304:c.C60821T:p.P20274L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.00299521;avsnp147=rs72646845;Kaviar_AF=0.0033376;Kaviar_AC=516;Kaviar_AN=154602;ExAC_ALL=0.0038;ExAC_AFR=0.0001;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0022;ExAC_OTH=0.0067;ExAC_SAS=0.0174;CLNALLELEID=56330;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.063;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.918;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.495;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-6.76;PROVEAN_pred=D;VEST3_score=0.42;CADD_raw=2.221;CADD_phred=17.65;DANN_score=0.924;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_pred=D;MetaSVM_score=0.134;MetaSVM_pred=D;MetaLR_score=0.506;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.11;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.734;GDI_full_10282015=.;dpsi_max_tissue=0.0248;dpsi_zscore=0.166;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0164;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.006e-05;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0175;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1229.25,0,-1347.5:1223:622:589:18354:19873:622,589 . . . . . . . . . . . . . . . . . . chr2 179456603 . G T 4599.17 . AB=0.437186;ABP=23.4702;AC=1;AF=0.5;AN=2;AO=261;CIGAR=1X;DP=597;DPB=597;DPRA=0;EPP=65.983;EPPR=78.1196;GTI=0;LEN=1;MEANALT=3;MQM=37.3487;MQMR=38.713;NS=1;NUMALT=1;ODDS=1059;PAIRED=0.996169;PAIREDR=0.966767;PAO=0;PQA=0;PQR=0;PRO=0;QA=7934;QR=10355;RO=331;RPL=115;RPP=11.0056;RPPR=4.48638;RPR=146;RUN=1;SAF=159;SAP=30.0414;SAR=102;SF=0;SRF=217;SRP=72.6089;SRR=114;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon131:c.C32748A:p.P10916P,TTN:NM_133432:exon132:c.C33123A:p.P11041P,TTN:NM_133437:exon132:c.C33324A:p.P11108P,TTN:NM_133378:exon252:c.C52239A:p.P17413P,TTN:NM_001256850:exon253:c.C55020A:p.P18340P,TTN:NM_001267550:exon303:c.C59943A:p.P19981P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.00219649;avsnp147=rs202017608;Kaviar_AF=0.0021539;Kaviar_AC=333;Kaviar_AN=154602;ExAC_ALL=0.0026;ExAC_AFR=0.0001;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0011;ExAC_OTH=0.0022;ExAC_SAS=0.0134;CLNALLELEID=56321;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1256;dpsi_zscore=0.556;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0111;gnomAD_exome_EAS=5.896e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0130;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-479.027,0,-693.484:597:331:261:7934:10355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179457147 . G A 6034.74 . AB=0.46627;ABP=7.9909;AC=37;AF=0.5;AN=68;AO=235;CIGAR=1X;DP=18833;DPB=504;DPRA=0;EPP=30.9622;EPPR=15.9625;GTI=0;LEN=1;MEANALT=3;MQM=38.8638;MQMR=40.1647;NS=1;NUMALT=1;ODDS=997.253;PAIRED=0.995745;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7099;QR=7631;RO=255;RPL=79;RPP=57.7961;RPPR=8.33254;RPR=156;RUN=1;SAF=148;SAP=37.3935;SAR=87;SF=0,1;SRF=144;SRP=12.2838;SRR=111;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon129:c.C32390T:p.P10797L,TTN:NM_133432:exon130:c.C32765T:p.P10922L,TTN:NM_133437:exon130:c.C32966T:p.P10989L,TTN:NM_133378:exon250:c.C51881T:p.P17294L,TTN:NM_001256850:exon251:c.C54662T:p.P18221L,TTN:NM_001267550:exon301:c.C59585T:p.P19862L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1253;esp6500siv2_ea=0.1473;esp6500siv2_all=0.1253;esp6500siv2_ea=0.1473;1000g2015aug_all=0.213059;avsnp147=rs16866406;Kaviar_AF=0.168329;Kaviar_AC=26024;Kaviar_AN=154602;ExAC_ALL=0.1768;ExAC_AFR=0.0678;ExAC_AMR=0.1526;ExAC_EAS=0.4354;ExAC_FIN=0.1479;ExAC_NFE=0.1461;ExAC_OTH=0.1715;ExAC_SAS=0.2599;CLNALLELEID=56317;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=1.73;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-6.45;PROVEAN_pred=D;VEST3_score=0.376;CADD_raw=2.159;CADD_phred=17.24;DANN_score=0.920;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.003;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.16;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.532;GDI_full_10282015=.;dpsi_max_tissue=-0.2115;dpsi_zscore=-0.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1769;gnomAD_exome_AFR=0.0705;gnomAD_exome_AMR=0.1486;gnomAD_exome_ASJ=0.1737;gnomAD_exome_EAS=0.4319;gnomAD_exome_FIN=0.1518;gnomAD_exome_NFE=0.1444;gnomAD_exome_OTH=0.1607;gnomAD_exome_SAS=0.2575;gnomAD_genome_ALL=0.1455;gnomAD_genome_AFR=0.0745;gnomAD_genome_AMR=0.1639;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.4439;gnomAD_genome_FIN=0.1461;gnomAD_genome_NFE=0.1539;gnomAD_genome_OTH=0.1660;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-452.402,0,-512.955:504:255:235:7099:7631 . . . 0/1:-528.774,0,-558.081:550:274:266:8141:8338 . . . . . . 1/1:-1085.57,-121.282,0:438:3:428:12715:95 0/1:-461.113,0,-430.14:487:221:252:7123:6623 . . . . . . 0/1:-703.753,0,-798.986:743:383:353:10914:11819 0/1:-545.154,0,-336.968:457:179:268:8069:5520 . . 0/1:-883.85,0,-706.338:817:366:434:13067:11010 . . . . . 0/1:-723.163,0,-660.723:695:330:355:10743:10148 . 0/1:-152.163,0,-210.235:197:99:92:2526:3062 . . 0/1:-513.044,0,-522.377:514:252:258:7807:7779 . . . 0/1:-607.025,0,-554.902:590:280:300:9077:8443 0/1:-371.551,0,-247.055:315:127:179:5461:3920 . 0/1:-802.961,0,-773.001:797:382:400:12006:11745 0/1:-611.977,0,-642.498:645:313:317:9367:9651 . . . 0/1:-392.928,0,-506.204:463:241:214:6258:7493 . 0/1:-653.242,0,-645.174:645:315:323:9766:9704 . . . 0/1:-427.533,0,-374.371:427:193:216:6457:5749 0/1:-822.138,0,-749.988:795:376:409:12366:11593 . 0/1:-449.21,0,-452.392:491:233:243:7016:6964 . 0/1:-678.657,0,-551.783:616:277:328:10023:8513 . 0/1:-622.565,0,-751.324:686:362:316:9630:11094 . . . . . . . . . 0/1:-718.86,0,-768.092:735:370:358:10958:11458 . . 0/1:-661.471,0,-651.137:670:333:328:10115:9973 0/1:-645.82,0,-607.655:662:313:334:9889:9455 . . . . . 0/1:-668.874,0,-713.385:728:350:365:10660:10767 . 1/1:-1552.27,-141.424,0:650:21:623:18776:624 . 0/1:-450.506,0,-565.378:520:272:237:7152:8414 . . . . . . 0/1:-643.244,0,-542.808:580:270:302:9441:8287:270,302 . . . . 0/1:-553.416,0,-560.365:527:262:260:8225:8334:262,260 . 1/1:-917.532,-74.1792,0:370:13:352:10901:432:13,352 . 0/1:-389.549,0,-338.374:356:163:183:5683:5052:163,183 . 0/1:-423.14,0,-419.779:409:197:207:6276:6250:197,207 . . . 0/1:-437.571,0,-400.705:408:194:211:6469:6066:194,211 . 0/1:-398.977,0,-330.759:346:159:183:5789:5005:159,183 chr2 179458591 . C T 2168.22 . AB=0.445283;ABP=9.90165;AC=38;AF=0.5;AN=70;AO=118;CIGAR=1X;DP=9071;DPB=265;DPRA=0;EPP=7.72129;EPPR=105.197;GTI=0;LEN=1;MEANALT=3;MQM=36.6271;MQMR=37.1765;NS=1;NUMALT=1;ODDS=452.744;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3479;QR=4432;RO=136;RPL=44;RPP=19.5724;RPPR=72.5613;RPR=74;RUN=1;SAF=73;SAP=17.4377;SAR=45;SF=0,1;SRF=99;SRP=64.3863;SRR=37;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon126:c.G31241A:p.R10414H,TTN:NM_133432:exon127:c.G31616A:p.R10539H,TTN:NM_133437:exon127:c.G31817A:p.R10606H,TTN:NM_133378:exon247:c.G50732A:p.R16911H,TTN:NM_001256850:exon248:c.G53513A:p.R17838H,TTN:NM_001267550:exon298:c.G58436A:p.R19479H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1252;esp6500siv2_ea=0.1473;esp6500siv2_all=0.1252;esp6500siv2_ea=0.1473;1000g2015aug_all=0.21246;avsnp147=rs2288569;Kaviar_AF=0.17005;Kaviar_AC=26290;Kaviar_AN=154602;ExAC_ALL=0.1761;ExAC_AFR=0.0680;ExAC_AMR=0.1530;ExAC_EAS=0.4317;ExAC_FIN=0.1475;ExAC_NFE=0.1465;ExAC_OTH=0.1700;ExAC_SAS=0.2603;CLNALLELEID=56301;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.032;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.78;MutationAssessor_pred=M;FATHMM_score=0.93;FATHMM_pred=T;PROVEAN_score=-3.67;PROVEAN_pred=D;VEST3_score=0.263;CADD_raw=4.706;CADD_phred=24.6;DANN_score=0.949;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=20.860;GDI_full_10282015=.;dpsi_max_tissue=-1.5140;dpsi_zscore=-1.722;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1779;gnomAD_exome_AFR=0.0706;gnomAD_exome_AMR=0.1504;gnomAD_exome_ASJ=0.1736;gnomAD_exome_EAS=0.4305;gnomAD_exome_FIN=0.1517;gnomAD_exome_NFE=0.1453;gnomAD_exome_OTH=0.1625;gnomAD_exome_SAS=0.2654;gnomAD_genome_ALL=0.1454;gnomAD_genome_AFR=0.0751;gnomAD_genome_AMR=0.1619;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.4370;gnomAD_genome_FIN=0.1476;gnomAD_genome_NFE=0.1540;gnomAD_genome_OTH=0.1656;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-207.179,0,-281.961:265:136:118:3479:4432 . . . 0/1:-211.113,0,-310.748:288:151:130:3821:4722 . . . . . . 1/1:-390.413,-48.5903,0:180:2:176:4853:64 0/1:-229.346,0,-219.454:262:124:130:3788:3646 . . . . . . 0/1:-284.165,0,-352.789:352:182:159:4591:5448 0/1:-122.537,0,-211.341:195:111:80:2249:3507 . . 0/1:-264.062,0,-440.164:397:221:164:4698:6795 0/1:-224.456,0,-338.709:326:172:136:3822:5206 . . . . 0/1:-242.038,0,-295.61:300:145:146:3979:4576 . 0/1:-87.1665,0,-103.631:103:52:48:1460:1549 . . 0/1:-266.63,0,-297.914:319:150:159:4502:4681 . . . 0/1:-224.384,0,-355.834:336:175:142:3862:5503 0/1:-167.125,0,-183.27:189:90:93:2729:2798 . 0/1:-234.961,0,-384.583:336:187:141:4177:5860 0/1:-273.667,0,-280.635:318:144:164:4447:4503 . . . 0/1:-138.782,0,-194.46:194:103:86:2458:3150 . 0/1:-279.028,0,-362.243:347:180:159:4711:5684 . . . 0/1:-164.596,0,-134.754:178:74:93:2649:2245 0/1:-313.607,0,-366.359:386:192:178:5099:5803 . 0/1:-139.745,0,-222.925:215:120:90:2499:3571 . 0/1:-249.456,0,-313.106:310:157:144:4114:4966 . 0/1:-213.414,0,-358.747:320:174:129:3694:5368 . . . . . . . . . 0/1:-269.079,0,-300.532:321:158:155:4413:4697 . . 0/1:-222.332,0,-297.223:292:154:129:3704:4685 0/1:-252.105,0,-287.949:314:155:154:4202:4686 . . . . . 0/1:-258.095,0,-307.584:330:163:156:4312:4997 . 1/1:-603.522,-60.7413,0:273:8:260:7524:224 . 0/1:-223.18,0,-252.611:261:128:122:3592:3992 . . . . . . 0/1:-184.212,0,-220.463:191:98:88:2802:3258:98,88 . . . . 0/1:-167.403,0,-176.898:169:86:82:2613:2781:86,82 . 1/1:-400.663,-28.9706,0:161:7:154:5034:236:7,154 . 0/1:-153.3,0,-207.596:181:101:79:2501:3164:101,79 . 0/1:-183.097,0,-175.032:181:84:91:2750:2734:84,91 . . . 0/1:-118.255,0,-171.708:136:77:58:1892:2534:77,58 . 0/1:-134.333,0,-150.344:145:72:70:2179:2341:72,70 chr2 179458921 . A C 909.37 . AB=0.379518;ABP=23.9402;AC=1;AF=0.5;AN=2;AO=63;CIGAR=1X;DP=166;DPB=166;DPRA=0;EPP=3.04477;EPPR=7.84774;GTI=0;LEN=1;MEANALT=3;MQM=38.4762;MQMR=38.8515;NS=1;NUMALT=1;ODDS=209.391;PAIRED=0.968254;PAIREDR=0.940594;PAO=0;PQA=0;PQR=0;PRO=0;QA=1763;QR=2921;RO=101;RPL=35;RPP=4.69922;RPPR=54.6311;RPR=28;RUN=1;SAF=41;SAP=15.4532;SAR=22;SF=0;SRF=52;SRP=3.2038;SRR=49;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon125:c.T31004G:p.V10335G,TTN:NM_133432:exon126:c.T31379G:p.V10460G,TTN:NM_133437:exon126:c.T31580G:p.V10527G,TTN:NM_133378:exon246:c.T50495G:p.V16832G,TTN:NM_001256850:exon247:c.T53276G:p.V17759G,TTN:NM_001267550:exon297:c.T58199G:p.V19400G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774737543;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.317e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.029;SIFT_pred=D;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.936;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.2;MutationAssessor_pred=M;FATHMM_score=0.86;FATHMM_pred=T;PROVEAN_score=-5.13;PROVEAN_pred=D;VEST3_score=0.617;CADD_raw=2.717;CADD_phred=20.9;DANN_score=0.927;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.115;MetaSVM_pred=T;MetaLR_score=0.378;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.979;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=-0.2698;dpsi_zscore=-0.807;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.082e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.022e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-100.473,0,-195.475:166:101:63:1763:2921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179459335 . C G 4736.66 . AB=0.476868;ABP=5.62225;AC=1;AF=0.5;AN=2;AO=268;CIGAR=1X;DP=562;DPB=562;DPRA=0;EPP=3.30199;EPPR=3.04088;GTI=0;LEN=1;MEANALT=3;MQM=39.556;MQMR=38.7711;NS=1;NUMALT=1;ODDS=1090.66;PAIRED=0.962687;PAIREDR=0.957746;PAO=0;PQA=0;PQR=0;PRO=0;QA=7884;QR=8489;RO=284;RPL=197;RPP=131.646;RPPR=144.431;RPR=71;RUN=1;SAF=68;SAP=144.188;SAR=200;SF=0;SRF=71;SRP=157.185;SRR=213;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon124:c.G30691C:p.V10231L,TTN:NM_133432:exon125:c.G31066C:p.V10356L,TTN:NM_133437:exon125:c.G31267C:p.V10423L,TTN:NM_133378:exon245:c.G50182C:p.V16728L,TTN:NM_001256850:exon246:c.G52963C:p.V17655L,TTN:NM_001267550:exon296:c.G57886C:p.V19296L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=0.247;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.273;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.185;MutationAssessor_pred=M;FATHMM_score=0.3;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.311;CADD_raw=2.363;CADD_phred=18.58;DANN_score=0.907;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.652;MetaSVM_pred=T;MetaLR_score=0.241;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=4.26;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=12.691;GDI_full_10282015=.;dpsi_max_tissue=-0.3107;dpsi_zscore=-0.869;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-509.226,0,-545.275:562:284:268:7884:8489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179460214 . ATTTTTTTTTTTTTA ATTTTTTTTTTTTTTA,ATTTTTTTTTTTTA 894.40 . AB=0.234667;ABP=232.324;AC=1,1;AF=0.5;AN=4;AO=88;CIGAR=1M1I14M;DP=748;DPB=403.533;DPRA=0;EPP=3.109;EPPR=4.767;GTI=0;LEN=1;MEANALT=36;MQM=31.6023;MQMR=36.1067;NS=1;NUMALT=1;ODDS=19.6643;PAIRED=0.988636;PAIREDR=0.949438;PAO=42.5;PQA=371;PQR=371;PRO=42.5;QA=1924;QR=5284;RO=178;RPL=28;RPP=28.2783;RPPR=77.2307;RPR=60;RUN=1;SAF=71;SAP=74.965;SAR=17;SF=0;SRF=133;SRP=97.4815;SRR=45;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0345;esp6500siv2_ea=0.0312;esp6500siv2_all=0.0345;esp6500siv2_ea=0.0312;1000g2015aug_all=.;avsnp147=rs111496283;Kaviar_AF=0.000511;Kaviar_AC=79;Kaviar_AN=154602;ExAC_ALL=0.0192;ExAC_AFR=0.0681;ExAC_AMR=0.0325;ExAC_EAS=0.0087;ExAC_FIN=0.0010;ExAC_NFE=0.0164;ExAC_OTH=0.0051;ExAC_SAS=0.0160;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0304;gnomAD_exome_AFR=0.0658;gnomAD_exome_AMR=0.0243;gnomAD_exome_ASJ=0.0241;gnomAD_exome_EAS=0.0270;gnomAD_exome_FIN=0.0201;gnomAD_exome_NFE=0.0359;gnomAD_exome_OTH=0.0365;gnomAD_exome_SAS=0.0226;gnomAD_genome_ALL=0.0141;gnomAD_genome_AFR=0.0286;gnomAD_genome_AMR=0.0217;gnomAD_genome_ASJ=0.0083;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0122;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0013;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1518;esp6500siv2_ea=0.1521;esp6500siv2_all=0.1518;esp6500siv2_ea=0.1521;1000g2015aug_all=.;avsnp147=rs376680679;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;ExAC_ALL=0.3806;ExAC_AFR=0.2183;ExAC_AMR=0.3698;ExAC_EAS=0.3013;ExAC_FIN=0.1124;ExAC_NFE=0.3517;ExAC_OTH=0.3838;ExAC_SAS=0.4746;CLNALLELEID=405472;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4093;gnomAD_exome_AFR=0.3246;gnomAD_exome_AMR=0.4561;gnomAD_exome_ASJ=0.4434;gnomAD_exome_EAS=0.4199;gnomAD_exome_FIN=0.3796;gnomAD_exome_NFE=0.3846;gnomAD_exome_OTH=0.4075;gnomAD_exome_SAS=0.4467;gnomAD_genome_ALL=0.0198;gnomAD_genome_AFR=0.0080;gnomAD_genome_AMR=0.225;gnomAD_genome_ASJ=0.0125;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0866;gnomAD_genome_NFE=0.0112;gnomAD_genome_OTH=0.0282;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-31.9804,0,-296.805,.,.,.:375:178:88,.:1924,.:5284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-195.708,.,.,0,.,-194.363:373:127:.,137:.,3508:3775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179460400 . GTCAGATTCACGCTTTT GT 204.81 . AB=0.363636;ABP=82.96;AC=1;AF=0.5;AN=2;AO=180;CIGAR=1M15D1M;DP=495;DPB=349.176;DPRA=0;EPP=3.78238;EPPR=25.9782;GTI=0;LEN=15;MEANALT=63;MQM=14.4167;MQMR=38.9075;NS=1;NUMALT=1;ODDS=47.16;PAIRED=0.944444;PAIREDR=0.872247;PAO=6;PQA=189;PQR=845;PRO=28;QA=3359;QR=7302;RO=227;RPL=61;RPP=43.5927;RPPR=59.7269;RPR=119;RUN=1;SAF=69;SAP=24.2907;SAR=111;SF=0;SRF=127;SRP=9.98388;SRR=100;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TTN:NM_003319:exon123:c.30470_30484del:p.10157_10162del,TTN:NM_133432:exon124:c.30845_30859del:p.10282_10287del,TTN:NM_133437:exon124:c.31046_31060del:p.10349_10354del,TTN:NM_133378:exon244:c.49961_49975del:p.16654_16659del,TTN:NM_001256850:exon245:c.52742_52756del:p.17581_17586del,TTN:NM_001267550:exon295:c.57665_57679del:p.19222_19227del;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-35.062,0,-537.967:495:227:180:3359:7302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179460433 . G A 7204.41 . AB=0.479115;ABP=6.09411;AC=1;AF=0.5;AN=2;AO=390;CIGAR=1X;DP=814;DPB=814;DPRA=0;EPP=15.8387;EPPR=58.9309;GTI=0;LEN=1;MEANALT=2;MQM=36.6769;MQMR=38.1071;NS=1;NUMALT=1;ODDS=1658.88;PAIRED=0.866667;PAIREDR=0.869048;PAO=0;PQA=0;PQR=0;PRO=0;QA=12084;QR=13616;RO=420;RPL=143;RPP=63.2325;RPPR=4.68544;RPR=247;RUN=1;SAF=198;SAP=3.21074;SAR=192;SF=0;SRF=213;SRP=3.19643;SRR=207;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon123:c.C30453T:p.I10151I,TTN:NM_133432:exon124:c.C30828T:p.I10276I,TTN:NM_133437:exon124:c.C31029T:p.I10343I,TTN:NM_133378:exon244:c.C49944T:p.I16648I,TTN:NM_001256850:exon245:c.C52725T:p.I17575I,TTN:NM_001267550:exon295:c.C57648T:p.I19216I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;1000g2015aug_all=0.00599042;avsnp147=rs55956577;Kaviar_AF=0.0035963;Kaviar_AC=556;Kaviar_AN=154602;ExAC_ALL=0.0057;ExAC_AFR=0.0003;ExAC_AMR=0.0018;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=0.0023;ExAC_OTH=0.0015;ExAC_SAS=0.0291;CLNALLELEID=56292;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0045;dpsi_zscore=-0.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=6.068e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0217;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-735.799,0,-878.611:814:420:390:12084:13616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179462494 . A G 9701.23 . AB=0.507335;ABP=3.39256;AC=56;AF=0.5;AN=94;AO=415;CIGAR=1X;DP=40952;DPB=818;DPRA=0;EPP=9.42007;EPPR=3.03292;GTI=0;LEN=1;MEANALT=3;MQM=37.7542;MQMR=38.5677;NS=1;NUMALT=1;ODDS=1639.32;PAIRED=0.951807;PAIREDR=0.973958;PAO=0;PQA=0;PQR=0;PRO=0;QA=12038;QR=11553;RO=384;RPL=235;RPP=18.8385;RPPR=3.21388;RPR=180;RUN=1;SAF=232;SAP=15.5734;SAR=183;SF=0,1;SRF=232;SRP=39.2015;SRR=152;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon122:c.T30120C:p.H10040H,TTN:NM_133432:exon123:c.T30495C:p.H10165H,TTN:NM_133437:exon123:c.T30696C:p.H10232H,TTN:NM_133378:exon243:c.T49611C:p.H16537H,TTN:NM_001256850:exon244:c.T52392C:p.H17464H,TTN:NM_001267550:exon294:c.T57315C:p.H19105H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2200;esp6500siv2_ea=0.3001;esp6500siv2_all=0.2200;esp6500siv2_ea=0.3001;1000g2015aug_all=0.126997;avsnp147=rs35833641;Kaviar_AF=0.234699;Kaviar_AC=36285;Kaviar_AN=154602;ExAC_ALL=0.2349;ExAC_AFR=0.0467;ExAC_AMR=0.0967;ExAC_EAS=0.0374;ExAC_FIN=0.3973;ExAC_NFE=0.3002;ExAC_OTH=0.2517;ExAC_SAS=0.2132;CLNALLELEID=56285;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2510;dpsi_zscore=0.815;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2340;gnomAD_exome_AFR=0.0463;gnomAD_exome_AMR=0.1099;gnomAD_exome_ASJ=0.2084;gnomAD_exome_EAS=0.0383;gnomAD_exome_FIN=0.3816;gnomAD_exome_NFE=0.3054;gnomAD_exome_OTH=0.2318;gnomAD_exome_SAS=0.2154;gnomAD_genome_ALL=0.2329;gnomAD_genome_AFR=0.0521;gnomAD_genome_AMR=0.1277;gnomAD_genome_ASJ=0.1954;gnomAD_genome_EAS=0.0432;gnomAD_genome_FIN=0.3889;gnomAD_genome_NFE=0.3235;gnomAD_genome_OTH=0.3035;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-770.023,0,-722.889:818:384:415:12038:11553 . 0/1:-682.867,0,-966.11:888:469:394:11041:14359 . 0/1:-843.913,0,-794.183:881:413:446:13114:12486 . . . . . . . 0/1:-561.683,0,-860.493:757:414:322:9329:12644 . . 1/1:-2890,-306.994,0:1268:29:1208:34717:799 . . 0/1:-847.866,0,-823.469:899:423:458:13064:12912 . . . 0/1:-426.222,0,-648.11:618:326:273:7324:10016 . 0/1:-885.969,0,-951.738:978:471:484:13853:14606 . 1/1:-1797.54,-187.401,0:824:26:773:21743:691 . . . . . 0/1:-876.467,0,-885.041:938:455:469:13419:13711 0/1:-239.41,0,-210.294:233:103:126:3659:3265 . 0/1:-847.363,0,-1195.35:1090:583:480:13690:18010 . 0/1:-907.536,0,-960.81:1009:482:507:14178:14818 . . . . . . 0/1:-1074.13,0,-1266.69:1242:631:593:17030:19242 1/1:-2137.56,-254.277,0:923:8:886:25515:183 . . 0/1:-733.477,0,-762.05:779:373:388:11327:11491 0/1:-1014.05,0,-1140.59:1134:557:554:15952:17425 . 0/1:-665.283,0,-822.929:832:425:393:10875:12780 0/1:-1180.34,0,-1074.46:1203:554:621:17973:17036 0/1:-844.891,0,-1061.09:1013:518:467:13431:15971 0/1:-509.474,0,-543.896:605:290:298:8131:8577 . . 1/1:-1150.56,-138.258,0:536:9:510:14119:215 1/1:-1634.28,-184.01,0:721:15:690:19670:356 . . 0/1:-961.772,0,-1058.34:1114:540:539:15136:16467 . 0/1:-652.735,0,-519.704:644:283:348:9930:8501 0/1:-1024.38,0,-1175.77:1198:593:585:16117:18004 . . . 0/1:-694.617,0,-638.679:736:335:381:10851:10109 1/1:-2007.91,-198.257,0:930:33:874:24759:915 0/1:-626.596,0,-828.945:805:416:368:10361:12612 0/1:-998.947,0,-1121.29:1153:566:561:15808:17357 . . 0/1:-709.154,0,-778.313:830:408:402:11359:12066 . . 0/1:-870.758,0,-1051.68:1058:528:502:14125:15977 . 0/1:-430.128,0,-591.53:592:304:267:7129:9015 . . . . 1/1:-1516.79,-167.345,0:693:15:653:18338:404 1/1:-1768.24,-193.515,0:761:13:728:21106:363 1/1:-1661.63,-171.681,0:749:22:703:20149:559 . 0/1:-505.119,0,-508.672:536:259:263:7737:7726 . . 0/1:-680.822,0,-767.739:785:383:380:10666:11864 0/1:-906.232,0,-1024.06:1030:508:502:14219:15626 0/1:-777.265,0,-855.138:906:441:443:12344:13201 . . . . 0/1:-930.282,0,-1231.05:1040:557:472:14402:17887:557,472 0/1:-460.646,0,-567.161:503:266:233:7036:8275:266,233 . 0/1:-1031.22,0,-1134.18:1054:544:497:15467:16817:544,497 0/1:-844.223,0,-970.859:876:447:419:12898:14199:447,419 0/1:-907.312,0,-1053.92:930:482:441:13672:15422:482,441 0/1:-832.069,0,-990.137:895:458:425:12778:14395:458,425 . . . . 0/1:-962.076,0,-954.111:945:458:470:14397:14313:458,470 . . . . . . chr2 179464373 . G A 13308.90 . AB=0.465744;ABP=17.7387;AC=1;AF=0.5;AN=2;AO=673;CIGAR=1X;DP=1445;DPB=1445;DPRA=0;EPP=30.9168;EPPR=22.9294;GTI=0;LEN=1;MEANALT=3;MQM=39.5572;MQMR=39.8748;NS=1;NUMALT=1;ODDS=3064.48;PAIRED=0.953938;PAIREDR=0.956059;PAO=0;PQA=0;PQR=0;PRO=0;QA=21049;QR=22650;RO=751;RPL=220;RPP=178.177;RPPR=251.238;RPR=453;RUN=1;SAF=401;SAP=56.7034;SAR=272;SF=0;SRF=444;SRP=57.2798;SRR=307;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon117:c.C29060T:p.P9687L,TTN:NM_133432:exon118:c.C29435T:p.P9812L,TTN:NM_133437:exon118:c.C29636T:p.P9879L,TTN:NM_133378:exon238:c.C48551T:p.P16184L,TTN:NM_001256850:exon239:c.C51332T:p.P17111L,TTN:NM_001267550:exon289:c.C56255T:p.P18752L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs200132226;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=8.679e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189586;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.09;SIFT_pred=T;Polyphen2_HDIV_score=0.676;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.143;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.995;MutationTaster_pred=D;MutationAssessor_score=0.325;MutationAssessor_pred=N;FATHMM_score=-0.2;FATHMM_pred=T;PROVEAN_score=-5.56;PROVEAN_pred=D;VEST3_score=0.376;CADD_raw=3.044;CADD_phred=22.4;DANN_score=0.936;fathmm-MKL_coding_score=0.901;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.832;MetaSVM_pred=T;MetaLR_score=0.125;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=14.261;GDI_full_10282015=.;dpsi_max_tissue=-0.8528;dpsi_zscore=-1.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=5.975e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.825e-05;gnomAD_exome_FIN=4.501e-05;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.472e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1366.07,0,-1510.52:1445:751:673:21049:22650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179464527 . T C 5592.12 . AB=0.501319;ABP=3.02176;AC=54;AF=0.5;AN=94;AO=380;CIGAR=1X;DP=26241;DPB=758;DPRA=0;EPP=3.58174;EPPR=3.73813;GTI=0;LEN=1;MEANALT=3;MQM=39.0447;MQMR=39.3657;NS=1;NUMALT=1;ODDS=1549.78;PAIRED=0.963158;PAIREDR=0.98338;PAO=0;PQA=0;PQR=0;PRO=0;QA=10554;QR=10969;RO=361;RPL=214;RPP=16.1763;RPPR=33.3327;RPR=166;RUN=1;SAF=161;SAP=22.2335;SAR=219;SF=0,1;SRF=150;SRP=25.3927;SRR=211;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon117:c.A28906G:p.N9636D,TTN:NM_133432:exon118:c.A29281G:p.N9761D,TTN:NM_133437:exon118:c.A29482G:p.N9828D,TTN:NM_133378:exon238:c.A48397G:p.N16133D,TTN:NM_001256850:exon239:c.A51178G:p.N17060D,TTN:NM_001267550:exon289:c.A56101G:p.N18701D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3221;esp6500siv2_ea=0.2261;esp6500siv2_all=0.3221;esp6500siv2_ea=0.2261;1000g2015aug_all=0.51278;avsnp147=rs1001238;Kaviar_AF=0.340966;Kaviar_AC=52714;Kaviar_AN=154602;ExAC_ALL=0.3554;ExAC_AFR=0.5425;ExAC_AMR=0.4347;ExAC_EAS=0.7062;ExAC_FIN=0.2783;ExAC_NFE=0.2340;ExAC_OTH=0.3348;ExAC_SAS=0.5330;CLNALLELEID=56275;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.966;MutationTaster_pred=P;MutationAssessor_score=-0.505;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_pred=T;PROVEAN_score=2.87;PROVEAN_pred=N;VEST3_score=0.016;CADD_raw=2.157;CADD_phred=17.23;DANN_score=0.932;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.985;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=14.793;GDI_full_10282015=.;dpsi_max_tissue=1.2196;dpsi_zscore=1.645;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3549;gnomAD_exome_AFR=0.5436;gnomAD_exome_AMR=0.4338;gnomAD_exome_ASJ=0.2897;gnomAD_exome_EAS=0.7114;gnomAD_exome_FIN=0.2797;gnomAD_exome_NFE=0.2276;gnomAD_exome_OTH=0.3142;gnomAD_exome_SAS=0.5230;gnomAD_genome_ALL=0.3528;gnomAD_genome_AFR=0.5360;gnomAD_genome_AMR=0.4139;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.7006;gnomAD_genome_FIN=0.2691;gnomAD_genome_NFE=0.2319;gnomAD_genome_OTH=0.3041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-684.165,0,-706.329:758:361:380:10554:10969 . . . . . . 0/1:-396.671,0,-611.283:529:289:228:6474:9055 . . 0/1:-469.121,0,-585.494:565:290:262:7406:8769 0/1:-555.099,0,-572.908:592:279:297:8473:8739 . . . 0/1:-388.273,0,-437.281:447:225:209:6106:6758 . . 1/1:-935.459,-115.63,0:438:6:408:11195:168 0/1:-327.245,0,-393.088:384:194:181:5047:6018 0/1:-708.524,0,-637.256:739:332:389:10859:9948 . . . . . 0/1:-708.497,0,-736.704:770:374:380:10859:11312 0/1:-363.224,0,-442.387:462:225:216:5937:6885 . . 0/1:-683.248,0,-868.478:844:430:388:10898:13206 0/1:-578.263,0,-713.978:696:348:327:9061:10784 . . . . 0/1:-553.037,0,-656.294:657:316:315:8699:9846 . 1/1:-376.743,-43.147,0:167:2:159:4378:72 . 1/1:-1226.52,-133.439,0:538:9:511:14727:267 0/1:-518.979,0,-522.968:588:276:292:8063:8280 . . . 0/1:-519.997,0,-587.254:607:295:289:8227:9023 1/1:-709.087,-82.4607,0:316:4:302:8468:122 0/1:-446.978,0,-516.408:529:259:256:7121:7822 0/1:-548.948,0,-881.284:756:422:317:8915:12891 0/1:-532.386,0,-607.212:592:294:290:8206:9063 . . 0/1:-659.956,0,-742.578:742:367:353:10122:11213 0/1:-346.71,0,-413.026:434:218:207:5772:6577 . 0/1:-608.305,0,-606.779:654:302:333:9287:9357 . . . 0/1:-287.148,0,-378.967:377:199:167:4591:5935 0/1:-629.457,0,-823.157:802:413:375:10014:12559 . 0/1:-418.491,0,-421.804:462:212:233:6598:6535 . 0/1:-528.922,0,-667.356:629:323:299:8274:9930 0/1:-196.657,0,-324.8:309:168:130:3463:5003 0/1:-538.82,0,-660.423:631:323:294:8453:9991 . . . . . . . 0/1:-547.625,0,-706.327:703:362:318:8915:10811 . 0/1:-584.263,0,-732.292:741:377:344:9343:11309 . . 0/1:-508.193,0,-655.217:636:323:296:8026:10099 0/1:-450.219,0,-653.65:599:312:274:7373:9741 . . . . . 0/1:-500.353,0,-591.955:605:303:284:7912:9091 . 1/1:-1439.39,-159.199,0:629:11:598:16992:274 . 0/1:-421.431,0,-525.688:506:259:234:6614:7915 . . . . 0/1:-454.592,0,-601.024:505:271:227:6930:8630:271,227 1/1:-1311.56,-133.465,0:514:7:497:15337:213:7,497 0/1:-515.268,0,-582.819:534:278:251:7779:8582:278,251 . . . . 0/1:-505.015,0,-590.34:530:266:255:7648:8669:266,255 . 1/1:-1128.24,-113.866,0:459:8:443:13266:248:8,443 . 0/1:-438.394,0,-457.175:444:219:217:6573:6869:219,217 . 0/1:-334.377,0,-561.427:433:251:174:5317:7935:251,174 . . 0/1:-466.247,0,-561.046:506:265:234:7077:8268:265,234 0/1:-413.087,0,-466.509:438:216:210:6306:6882:216,210 . 0/1:-471.127,0,-428.601:445:209:230:6913:6524:209,230 chr2 179466017 . C T 7225.93 . AB=0.452514;ABP=20.5398;AC=1;AF=0.5;AN=2;AO=405;CIGAR=1X;DP=895;DPB=895;DPRA=0;EPP=167.211;EPPR=126.552;GTI=0;LEN=1;MEANALT=3;MQM=38.0148;MQMR=39.3704;NS=1;NUMALT=1;ODDS=1663.83;PAIRED=0.997531;PAIREDR=0.972163;PAO=0;PQA=0;PQR=0;PRO=0;QA=12062;QR=14190;RO=467;RPL=185;RPP=9.57833;RPPR=75.664;RPR=220;RUN=1;SAF=224;SAP=12.924;SAR=181;SF=0;SRF=243;SRP=4.68889;SRR=224;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon115:c.G28512A:p.Q9504Q,TTN:NM_133432:exon116:c.G28887A:p.Q9629Q,TTN:NM_133437:exon116:c.G29088A:p.Q9696Q,TTN:NM_133378:exon236:c.G48003A:p.Q16001Q,TTN:NM_001256850:exon237:c.G50784A:p.Q16928Q,TTN:NM_001267550:exon287:c.G55707A:p.Q18569Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770298531;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.974e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.555e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1323;dpsi_zscore=0.573;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.526e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.731e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-749.9,0,-950.611:895:467:405:12062:14190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179466171 . T C 11536.50 . AB=0.461412;ABP=18.7633;AC=1;AF=0.5;AN=2;AO=562;CIGAR=1X;DP=1218;DPB=1218;DPRA=0;EPP=16.9201;EPPR=3.6774;GTI=0;LEN=1;MEANALT=3;MQM=40.6014;MQMR=40.7445;NS=1;NUMALT=1;ODDS=2656.37;PAIRED=0.982206;PAIREDR=0.967085;PAO=0;PQA=0;PQR=0;PRO=0;QA=17539;QR=20129;RO=638;RPL=289;RPP=3.99944;RPPR=3.50041;RPR=273;RUN=1;SAF=274;SAP=3.76761;SAR=288;SF=1;SRF=293;SRP=12.2135;SRR=345;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon115:c.A28358G:p.K9453R,TTN:NM_133432:exon116:c.A28733G:p.K9578R,TTN:NM_133437:exon116:c.A28934G:p.K9645R,TTN:NM_133378:exon236:c.A47849G:p.K15950R,TTN:NM_001256850:exon237:c.A50630G:p.K16877R,TTN:NM_001267550:exon287:c.A55553G:p.K18518R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0013;1000g2015aug_all=0.00259585;avsnp147=rs72646823;Kaviar_AF=0.0012742;Kaviar_AC=197;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0060;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0011;ExAC_SAS=0.0003;CLNALLELEID=56271;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.173;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.95;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-2.21;PROVEAN_pred=N;VEST3_score=0.285;CADD_raw=1.823;CADD_phred=15.12;DANN_score=0.918;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.636;MetaSVM_pred=T;MetaLR_score=0.190;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.85;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.970;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.229;GDI_full_10282015=.;dpsi_max_tissue=-0.1521;dpsi_zscore=-0.586;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0179;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0060;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1164.32,0,-1379.13:1218:638:562:17539:20129:638,562 . . . chr2 179466679 . C T 10674.39 . AB=0.430746;ABP=57.7499;AC=2;AF=0.5;AN=4;AO=566;CIGAR=1X;DP=2438;DPB=1314;DPRA=0;EPP=22.8988;EPPR=162.275;GTI=0;LEN=1;MEANALT=3;MQM=39.417;MQMR=39.8224;NS=1;NUMALT=1;ODDS=2441.72;PAIRED=0.991166;PAIREDR=0.973427;PAO=0;PQA=0;PQR=0;PRO=0;QA=17118;QR=22413;RO=715;RPL=242;RPP=28.8071;RPPR=14.3111;RPR=324;RUN=1;SAF=339;SAP=51.1357;SAR=227;SF=0,1;SRF=393;SRP=18.3199;SRR=322;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0038;esp6500siv2_ea=0.0051;esp6500siv2_all=0.0038;esp6500siv2_ea=0.0051;1000g2015aug_all=0.00239617;avsnp147=rs201531806;Kaviar_AF=0.0039844;Kaviar_AC=616;Kaviar_AN=154602;ExAC_ALL=0.0042;ExAC_AFR=0.0009;ExAC_AMR=0.0008;ExAC_EAS=0.0002;ExAC_FIN=0.0011;ExAC_NFE=0.0042;ExAC_OTH=0.0033;ExAC_SAS=0.0116;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6632;dpsi_zscore=-1.239;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0046;gnomAD_exome_OTH=0.0041;gnomAD_exome_SAS=0.0117;gnomAD_genome_ALL=0.0031;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1081.68,0,-1527.1:1314:715:566:17118:22413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1128.06,0,-1269.44:1124:573:535:16990:18498:573,535 . . . . . chr2 179468674 . A G 7237.72 . AB=0.476728;ABP=6.34561;AC=1;AF=0.5;AN=2;AO=338;CIGAR=1X;DP=709;DPB=709;DPRA=0;EPP=3.93542;EPPR=3.03416;GTI=0;LEN=1;MEANALT=3;MQM=40.855;MQMR=40.978;NS=1;NUMALT=1;ODDS=1666.55;PAIRED=0.973373;PAIREDR=0.972527;PAO=0;PQA=0;PQR=0;PRO=0;QA=10821;QR=11876;RO=364;RPL=167;RPP=3.11309;RPPR=8.37933;RPR=171;RUN=1;SAF=170;SAP=3.036;SAR=168;SF=1;SRF=168;SRP=7.68732;SRR=196;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon110:c.T27545C:p.M9182T,TTN:NM_133432:exon111:c.T27920C:p.M9307T,TTN:NM_133437:exon111:c.T28121C:p.M9374T,TTN:NM_133378:exon231:c.T47036C:p.M15679T,TTN:NM_001256850:exon232:c.T49817C:p.M16606T,TTN:NM_001267550:exon282:c.T54740C:p.M18247T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200585270;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=189590;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.46;SIFT_pred=T;Polyphen2_HDIV_score=0.042;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=-0.54;MutationAssessor_pred=N;FATHMM_score=0.54;FATHMM_pred=T;PROVEAN_score=-3.6;PROVEAN_pred=D;VEST3_score=0.547;CADD_raw=1.807;CADD_phred=15.03;DANN_score=0.828;fathmm-MKL_coding_score=0.934;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.985;MetaSVM_pred=T;MetaLR_score=0.089;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.625;GDI_full_10282015=.;dpsi_max_tissue=0.0099;dpsi_zscore=0.068;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.477e-05;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-731.696,0,-820.334:709:364:338:10821:11876:364,338 . . . . . . . . . . . . chr2 179468762 . G A 3713.41 . AB=0.4625;ABP=7.89611;AC=1;AF=0.5;AN=2;AO=185;CIGAR=1X;DP=400;DPB=400;DPRA=0;EPP=15.7926;EPPR=3.86001;GTI=0;LEN=1;MEANALT=3;MQM=40.1838;MQMR=39.9952;NS=1;NUMALT=1;ODDS=855.045;PAIRED=0.962162;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=5796;QR=6508;RO=207;RPL=83;RPP=7.24761;RPPR=7.63648;RPR=102;RUN=1;SAF=79;SAP=11.5671;SAR=106;SF=1;SRF=86;SRP=15.8608;SRR=121;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon110:c.C27457T:p.R9153X,TTN:NM_133432:exon111:c.C27832T:p.R9278X,TTN:NM_133437:exon111:c.C28033T:p.R9345X,TTN:NM_133378:exon231:c.C46948T:p.R15650X,TTN:NM_001256850:exon232:c.C49729T:p.R16577X,TTN:NM_001267550:exon282:c.C54652T:p.R18218X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775367836;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.657e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=20.022;CADD_phred=61;DANN_score=0.981;fathmm-MKL_coding_score=0.850;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.77;phyloP7way_vertebrate=-0.809;phyloP20way_mammalian=-0.349;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=16.938;GDI_full_10282015=.;dpsi_max_tissue=-9.8441;dpsi_zscore=-2.899;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.147e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.003e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-381.255,0,-436.457:400:207:185:5796:6508:207,185 . . . . . . . . . . . . . . . . chr2 179471759 . A G 4342.23 . AB=0.484848;ABP=4.06314;AC=1;AF=0.5;AN=2;AO=256;CIGAR=1X;DP=528;DPB=528;DPRA=0;EPP=16.582;EPPR=14.2672;GTI=0;LEN=1;MEANALT=3;MQM=39.2305;MQMR=40.512;NS=1;NUMALT=1;ODDS=999.835;PAIRED=0.976562;PAIREDR=0.996;PAO=0;PQA=0;PQR=0;PRO=0;QA=7308;QR=7608;RO=250;RPL=41;RPP=259.821;RPPR=198.443;RPR=215;RUN=1;SAF=147;SAP=15.2588;SAR=109;SF=0;SRF=141;SRP=11.9047;SRR=109;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon106:c.T26375C:p.V8792A,TTN:NM_133432:exon107:c.T26750C:p.V8917A,TTN:NM_133437:exon107:c.T26951C:p.V8984A,TTN:NM_133378:exon227:c.T45866C:p.V15289A,TTN:NM_001256850:exon228:c.T48647C:p.V16216A,TTN:NM_001267550:exon278:c.T53570C:p.V17857A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.388;SIFT_pred=T;Polyphen2_HDIV_score=0.236;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.54;MutationAssessor_pred=N;FATHMM_score=0.61;FATHMM_pred=T;PROVEAN_score=-2.45;PROVEAN_pred=N;VEST3_score=0.376;CADD_raw=1.729;CADD_phred=14.57;DANN_score=0.891;fathmm-MKL_coding_score=0.930;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.011;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.35;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.343;GDI_full_10282015=.;dpsi_max_tissue=0.1591;dpsi_zscore=0.637;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.239e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-472.197,0,-506.04:528:250:256:7308:7608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179472223 . A G 6128.86 . AB=0.481529;ABP=5.33668;AC=3;AF=0.5;AN=6;AO=378;CIGAR=1X;DP=2009;DPB=785;DPRA=0;EPP=22.3353;EPPR=5.20371;GTI=0;LEN=1;MEANALT=3;MQM=39.5026;MQMR=38.6591;NS=1;NUMALT=1;ODDS=1721.9;PAIRED=0.97619;PAIREDR=0.977273;PAO=0;PQA=0;PQR=0;PRO=0;QA=11586;QR=12293;RO=396;RPL=168;RPP=13.1438;RPPR=3.03223;RPR=210;RUN=1;SAF=196;SAP=4.13625;SAR=182;SF=0;SRF=189;SRP=4.78696;SRR=207;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon105:c.T25997C:p.I8666T,TTN:NM_133432:exon106:c.T26372C:p.I8791T,TTN:NM_133437:exon106:c.T26573C:p.I8858T,TTN:NM_133378:exon226:c.T45488C:p.I15163T,TTN:NM_001256850:exon227:c.T48269C:p.I16090T,TTN:NM_001267550:exon277:c.T53192C:p.I17731T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0143;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0143;1000g2015aug_all=0.00459265;avsnp147=rs72646809;Kaviar_AF=0.0122832;Kaviar_AC=1899;Kaviar_AN=154602;ExAC_ALL=0.0137;ExAC_AFR=0.0023;ExAC_AMR=0.0072;ExAC_EAS=0.0001;ExAC_FIN=0.0390;ExAC_NFE=0.0166;ExAC_OTH=0.0156;ExAC_SAS=0.0099;CLNALLELEID=56239;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.048;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.63;MutationAssessor_pred=H;FATHMM_score=-1.28;FATHMM_pred=T;PROVEAN_score=-3.74;PROVEAN_pred=D;VEST3_score=0.654;CADD_raw=2.046;CADD_phred=16.50;DANN_score=0.902;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=0.530;MetaSVM_pred=D;MetaLR_score=0.634;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.99;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.494;GDI_full_10282015=.;dpsi_max_tissue=-0.0311;dpsi_zscore=-0.171;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0066;gnomAD_exome_ASJ=0.0300;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0.0415;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0159;gnomAD_exome_SAS=0.0093;gnomAD_genome_ALL=0.0138;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0412;gnomAD_genome_NFE=0.0149;gnomAD_genome_OTH=0.0275;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-758.669,0,-797.739:785:396:378:11586:12293 . . . . . . . . . . . 0/1:-495.581,0,-601.067:567:293:266:7964:9226 . . . . . . . 0/1:-616.727,0,-637.721:657:318:323:9765:10024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179472292 . T A 9260.31 . AB=0.477908;ABP=7.71157;AC=1;AF=0.5;AN=2;AO=530;CIGAR=1X;DP=1109;DPB=1109;DPRA=0;EPP=8.92654;EPPR=8.62967;GTI=0;LEN=1;MEANALT=3;MQM=36.8887;MQMR=38.3961;NS=1;NUMALT=1;ODDS=2132.26;PAIRED=0.935849;PAIREDR=0.958781;PAO=0;PQA=0;PQR=0;PRO=0;QA=15455;QR=16705;RO=558;RPL=241;RPP=12.4501;RPPR=7.50891;RPR=289;RUN=1;SAF=275;SAP=4.64915;SAR=255;SF=0;SRF=272;SRP=3.77304;SRR=286;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon105:c.A25928T:p.K8643I,TTN:NM_133432:exon106:c.A26303T:p.K8768I,TTN:NM_133437:exon106:c.A26504T:p.K8835I,TTN:NM_133378:exon226:c.A45419T:p.K15140I,TTN:NM_001256850:exon227:c.A48200T:p.K16067I,TTN:NM_001267550:exon277:c.A53123T:p.K17708I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0157;esp6500siv2_ea=0.0204;esp6500siv2_all=0.0157;esp6500siv2_ea=0.0204;1000g2015aug_all=0.0295527;avsnp147=rs2303832;Kaviar_AF=0.0269919;Kaviar_AC=4173;Kaviar_AN=154602;ExAC_ALL=0.0292;ExAC_AFR=0.0037;ExAC_AMR=0.0353;ExAC_EAS=0.1032;ExAC_FIN=0.0528;ExAC_NFE=0.0254;ExAC_OTH=0.0267;ExAC_SAS=0.0070;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.883;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_pred=N;MutationAssessor_score=3.47;MutationAssessor_pred=M;FATHMM_score=0.6;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_pred=N;VEST3_score=0.135;CADD_raw=1.552;CADD_phred=13.59;DANN_score=0.888;fathmm-MKL_coding_score=0.366;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.925;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.531;phyloP7way_vertebrate=-0.512;phyloP20way_mammalian=0.124;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=11.796;GDI_full_10282015=.;dpsi_max_tissue=-0.1642;dpsi_zscore=-0.612;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0292;gnomAD_exome_AFR=0.0049;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=0.1021;gnomAD_exome_FIN=0.0489;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0269;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0251;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0919;gnomAD_genome_FIN=0.0536;gnomAD_genome_NFE=0.0228;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-935.883,0,-1067.11:1109:558:530:15455:16705 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179472374 . C A 5057.49 . AB=0.491773;ABP=3.33185;AC=1;AF=0.5;AN=2;AO=269;CIGAR=1X;DP=547;DPB=547;DPRA=0;EPP=19.3569;EPPR=9.60311;GTI=0;LEN=1;MEANALT=2;MQM=40.5874;MQMR=39.8412;NS=1;NUMALT=1;ODDS=1164.53;PAIRED=0.962825;PAIREDR=0.942238;PAO=0;PQA=0;PQR=0;PRO=0;QA=8078;QR=8437;RO=277;RPL=215;RPP=212.255;RPPR=76.7698;RPR=54;RUN=1;SAF=116;SAP=14.0614;SAR=153;SF=1;SRF=132;SRP=4.33513;SRR=145;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon105:c.G25846T:p.G8616X,TTN:NM_133432:exon106:c.G26221T:p.G8741X,TTN:NM_133437:exon106:c.G26422T:p.G8808X,TTN:NM_133378:exon226:c.G45337T:p.G15113X,TTN:NM_001256850:exon227:c.G48118T:p.G16040X,TTN:NM_001267550:exon277:c.G53041T:p.G17681X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=22.395;CADD_phred=62;DANN_score=0.984;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.876;SiPhy_29way_logOdds=20.879;GDI_full_10282015=.;dpsi_max_tissue=-41.7724;dpsi_zscore=-3.496;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-536.901,0,-563.482:547:277:269:8078:8437:277,269 . . . . . . . . chr2 179472693 . A G 7263.04 . AB=0.449022;ABP=24.9285;AC=1;AF=0.5;AN=2;AO=436;CIGAR=1X;DP=971;DPB=971;DPRA=0;EPP=13.5489;EPPR=37.23;GTI=0;LEN=1;MEANALT=3;MQM=37.2913;MQMR=37.963;NS=1;NUMALT=1;ODDS=1672.38;PAIRED=0.974771;PAIREDR=0.933852;PAO=0;PQA=0;PQR=0;PRO=0;QA=12275;QR=15386;RO=514;RPL=173;RPP=43.3519;RPPR=24.9109;RPR=263;RUN=1;SAF=236;SAP=9.46495;SAR=200;SF=0;SRF=265;SRP=4.09181;SRR=249;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon104:c.T25626C:p.D8542D,TTN:NM_133432:exon105:c.T26001C:p.D8667D,TTN:NM_133437:exon105:c.T26202C:p.D8734D,TTN:NM_133378:exon225:c.T45117C:p.D15039D,TTN:NM_001256850:exon226:c.T47898C:p.D15966D,TTN:NM_001267550:exon276:c.T52821C:p.D17607D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0156;esp6500siv2_ea=0.0205;esp6500siv2_all=0.0156;esp6500siv2_ea=0.0205;1000g2015aug_all=0.0305511;avsnp147=rs2303831;Kaviar_AF=0.0282079;Kaviar_AC=4361;Kaviar_AN=154602;ExAC_ALL=0.0296;ExAC_AFR=0.0037;ExAC_AMR=0.0354;ExAC_EAS=0.1042;ExAC_FIN=0.0529;ExAC_NFE=0.0256;ExAC_OTH=0.0278;ExAC_SAS=0.0096;CLNALLELEID=56230;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0711;dpsi_zscore=0.385;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0048;gnomAD_exome_AMR=0.0344;gnomAD_exome_ASJ=0.0145;gnomAD_exome_EAS=0.1023;gnomAD_exome_FIN=0.0489;gnomAD_exome_NFE=0.0235;gnomAD_exome_OTH=0.0271;gnomAD_exome_SAS=0.0092;gnomAD_genome_ALL=0.0251;gnomAD_genome_AFR=0.0049;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0918;gnomAD_genome_FIN=0.0533;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-741.288,0,-992.81:971:514:436:12275:15386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179472825 . T C 3423.51 . AB=0.479911;ABP=4.58074;AC=8;AF=0.5;AN=16;AO=215;CIGAR=1X;DP=3195;DPB=448;DPRA=0;EPP=62.8924;EPPR=114.098;GTI=0;LEN=1;MEANALT=2;MQM=37.7674;MQMR=38.3114;NS=1;NUMALT=1;ODDS=927.461;PAIRED=0.995349;PAIREDR=0.986842;PAO=0;PQA=0;PQR=0;PRO=0;QA=6620;QR=7254;RO=228;RPL=85;RPP=23.4625;RPPR=23.1631;RPR=130;RUN=1;SAF=123;SAP=12.7163;SAR=92;SF=0,1;SRF=139;SRP=26.8203;SRR=89;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0169;esp6500siv2_ea=0.0226;esp6500siv2_all=0.0169;esp6500siv2_ea=0.0226;1000g2015aug_all=0.0107827;avsnp147=rs72646807;Kaviar_AF=0.0158148;Kaviar_AC=2445;Kaviar_AN=154602;ExAC_ALL=0.0172;ExAC_AFR=0.0038;ExAC_AMR=0.0202;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0247;ExAC_OTH=0.0270;ExAC_SAS=0.0082;CLNALLELEID=141499;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5062;dpsi_zscore=-1.097;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0164;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0194;gnomAD_exome_ASJ=0.0375;gnomAD_exome_EAS=6.089e-05;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0225;gnomAD_exome_OTH=0.0264;gnomAD_exome_SAS=0.0079;gnomAD_genome_ALL=0.0133;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0215;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-419.203,0,-469.409:448:228:215:6620:7254 . . . . . . . . . . . . . . . . 0/1:-256.26,0,-297.961:297:146:142:4265:4695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-551.802,0,-497.788:538:247:275:8581:7815 . . . . . . . . . . . . 0/1:-123.253,0,-238.092:195:116:75:2227:3816 . . . . . . . . 0/1:-518.027,0,-582.032:590:296:284:8392:9233 . . . . . . . . . . . . . . . 0/1:-315.962,0,-449.909:399:221:169:5260:6805 . . . . . . 0/1:-425.33,0,-465.093:424:213:202:6499:6814:213,202 . . . . . . 0/1:-281.473,0,-338.526:304:159:139:4320:5043:159,139 . . . . . . . . . . chr2 179472908 . T C 6772.03 . AB=0.465909;ABP=11.0053;AC=1;AF=0.5;AN=2;AO=369;CIGAR=1X;DP=792;DPB=792;DPRA=0;EPP=4.00482;EPPR=9.64385;GTI=0;LEN=1;MEANALT=3;MQM=38.4309;MQMR=38.9501;NS=1;NUMALT=1;ODDS=1559.32;PAIRED=0.98645;PAIREDR=0.970075;PAO=0;PQA=0;PQR=0;PRO=0;QA=10952;QR=12142;RO=401;RPL=137;RPP=56.1202;RPPR=40.3152;RPR=232;RUN=1;SAF=229;SAP=49.6234;SAR=140;SF=0;SRF=242;SRP=40.3152;SRR=159;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon103:c.A25507G:p.I8503V,TTN:NM_133432:exon104:c.A25882G:p.I8628V,TTN:NM_133437:exon104:c.A26083G:p.I8695V,TTN:NM_133378:exon224:c.A44998G:p.I15000V,TTN:NM_001256850:exon225:c.A47779G:p.I15927V,TTN:NM_001267550:exon275:c.A52702G:p.I17568V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs377571654;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=199237;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.457;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=D;MutationAssessor_score=0.32;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_pred=N;VEST3_score=0.278;CADD_raw=0.954;CADD_phred=10.40;DANN_score=0.909;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.078;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.82;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.19;GDI_full_10282015=.;dpsi_max_tissue=-0.0630;dpsi_zscore=-0.321;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=3.49e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-695.329,0,-799.601:792:401:369:10952:12142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179474401 . CAA CA 2501.86 . AB=0.453744;ABP=11.4475;AC=1;AF=0.5;AN=2;AO=206;CIGAR=1M1D1M;DP=454;DPB=385.333;DPRA=0;EPP=104.247;EPPR=115.407;GTI=0;LEN=1;MEANALT=14;MQM=37.5243;MQMR=39.5962;NS=1;NUMALT=1;ODDS=576.074;PAIRED=0.995146;PAIREDR=1;PAO=3;PQA=32;PQR=32;PRO=3;QA=4718;QR=6140;RO=213;RPL=131;RPP=36.0673;RPPR=16.9669;RPR=75;RUN=1;SAF=111;SAP=5.70883;SAR=95;SF=0;SRF=113;SRP=4.73321;SRR=100;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-271.476,0,-404.044:454:213:206:4718:6140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179474466 . C T 7604.64 . AB=0.434565;ABP=40.2377;AC=1;AF=0.5;AN=2;AO=435;CIGAR=1X;DP=1001;DPB=1001;DPRA=0;EPP=31.0897;EPPR=81.8267;GTI=0;LEN=1;MEANALT=3;MQM=37.6184;MQMR=38.9481;NS=1;NUMALT=1;ODDS=1751.03;PAIRED=0.947126;PAIREDR=0.955556;PAO=0;PQA=0;PQR=0;PRO=0;QA=12990;QR=16105;RO=540;RPL=133;RPP=145.584;RPPR=151.249;RPR=302;RUN=1;SAF=188;SAP=20.3871;SAR=247;SF=0;SRF=232;SRP=26.237;SRR=308;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon100:c.G24489A:p.A8163A,TTN:NM_133432:exon101:c.G24864A:p.A8288A,TTN:NM_133437:exon101:c.G25065A:p.A8355A,TTN:NM_133378:exon221:c.G43980A:p.A14660A,TTN:NM_001256850:exon222:c.G46761A:p.A15587A,TTN:NM_001267550:exon272:c.G51684A:p.A17228A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0204;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0204;1000g2015aug_all=0.0299521;avsnp147=rs2288566;Kaviar_AF=0.0266361;Kaviar_AC=4118;Kaviar_AN=154602;ExAC_ALL=0.0290;ExAC_AFR=0.0034;ExAC_AMR=0.0346;ExAC_EAS=0.1003;ExAC_FIN=0.0520;ExAC_NFE=0.0255;ExAC_OTH=0.0270;ExAC_SAS=0.0073;CLNALLELEID=56221;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0526;dpsi_zscore=-0.277;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0287;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0337;gnomAD_exome_ASJ=0.0147;gnomAD_exome_EAS=0.0989;gnomAD_exome_FIN=0.0480;gnomAD_exome_NFE=0.0232;gnomAD_exome_OTH=0.0269;gnomAD_exome_SAS=0.0065;gnomAD_genome_ALL=0.0248;gnomAD_genome_AFR=0.0046;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0874;gnomAD_genome_FIN=0.0533;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-789.926,0,-1073.36:1001:540:435:12990:16105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179474668 . G A 4660.56 . AB=0.483568;ABP=5.00846;AC=4;AF=0.5;AN=8;AO=412;CIGAR=1X;DP=2227;DPB=852;DPRA=0;EPP=3.34762;EPPR=7.43211;GTI=0;LEN=1;MEANALT=3;MQM=37.5485;MQMR=38.5642;NS=1;NUMALT=1;ODDS=1585.19;PAIRED=0.975728;PAIREDR=0.973366;PAO=0;PQA=0;PQR=0;PRO=0;QA=11477;QR=12162;RO=413;RPL=262;RPP=69.1243;RPPR=52.481;RPR=150;RUN=1;SAF=212;SAP=3.76926;SAR=200;SF=0,1;SRF=222;SRP=8.06305;SRR=191;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon100:c.C24287T:p.A8096V,TTN:NM_133432:exon101:c.C24662T:p.A8221V,TTN:NM_133437:exon101:c.C24863T:p.A8288V,TTN:NM_133378:exon221:c.C43778T:p.A14593V,TTN:NM_001256850:exon222:c.C46559T:p.A15520V,TTN:NM_001267550:exon272:c.C51482T:p.A17161V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0302;esp6500siv2_ea=0.0131;esp6500siv2_all=0.0302;esp6500siv2_ea=0.0131;1000g2015aug_all=0.0726837;avsnp147=rs16866412;Kaviar_AF=0.0323605;Kaviar_AC=5003;Kaviar_AN=154602;ExAC_ALL=0.0347;ExAC_AFR=0.0748;ExAC_AMR=0.0123;ExAC_EAS=0.1293;ExAC_FIN=0.0384;ExAC_NFE=0.0140;ExAC_OTH=0.0378;ExAC_SAS=0.0597;CLNALLELEID=56218;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.033;SIFT_pred=D;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.751;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.45;MutationAssessor_pred=L;FATHMM_score=0.3;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_pred=D;VEST3_score=0.307;CADD_raw=3.431;CADD_phred=23.0;DANN_score=0.976;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.155;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.075;phastCons7way_vertebrate=0.973;phastCons20way_mammalian=0.936;SiPhy_29way_logOdds=19.842;GDI_full_10282015=.;dpsi_max_tissue=-0.0048;dpsi_zscore=-0.003;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM174034#"Decreased_adult_height_association_with";gnomAD_exome_ALL=0.0340;gnomAD_exome_AFR=0.0736;gnomAD_exome_AMR=0.0132;gnomAD_exome_ASJ=0.0257;gnomAD_exome_EAS=0.1329;gnomAD_exome_FIN=0.0403;gnomAD_exome_NFE=0.0126;gnomAD_exome_OTH=0.0285;gnomAD_exome_SAS=0.0580;gnomAD_genome_ALL=0.0396;gnomAD_genome_AFR=0.0760;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1320;gnomAD_genome_FIN=0.0392;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0265;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-703.002,0,-777.714:852:413:412:11477:12162 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-205.085,0,-238.041:242:126:111:3208:3677 . . . . . . . 0/1:-485.481,0,-494.584:559:276:267:7685:7837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-537.676,0,-609.532:574:292:274:8230:9055:292,274 . . . . . . . . . . . . . . . . . . chr2 179476242 . C T 7902.04 . AB=0.436137;ABP=37.1247;AC=1;AF=0.5;AN=2;AO=420;CIGAR=1X;DP=963;DPB=963;DPRA=0;EPP=41.2489;EPPR=31.9451;GTI=0;LEN=1;MEANALT=3;MQM=40.3952;MQMR=40.5029;NS=1;NUMALT=1;ODDS=1819.51;PAIRED=0.971429;PAIREDR=0.969052;PAO=0;PQA=0;PQR=0;PRO=0;QA=12612;QR=15856;RO=517;RPL=243;RPP=25.5316;RPPR=62.4885;RPR=177;RUN=1;SAF=168;SAP=39.491;SAR=252;SF=1;SRF=211;SRP=40.9166;SRR=306;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon97:c.G23519A:p.R7840H,TTN:NM_133432:exon98:c.G23894A:p.R7965H,TTN:NM_133437:exon98:c.G24095A:p.R8032H,TTN:NM_133378:exon218:c.G43010A:p.R14337H,TTN:NM_001256850:exon219:c.G45791A:p.R15264H,TTN:NM_001267550:exon269:c.G50714A:p.R16905H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000399361;avsnp147=rs191539637;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0.0004;ExAC_FIN=0.0003;ExAC_NFE=0.0005;ExAC_OTH=0.0011;ExAC_SAS=6.059e-05;CLNALLELEID=173136;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.017;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.46;MutationAssessor_pred=L;FATHMM_score=0.41;FATHMM_pred=T;PROVEAN_score=-3.61;PROVEAN_pred=D;VEST3_score=0.399;CADD_raw=4.034;CADD_phred=23.7;DANN_score=0.947;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.513;MetaSVM_pred=T;MetaLR_score=0.312;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.95;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.393;GDI_full_10282015=.;dpsi_max_tissue=-0.0657;dpsi_zscore=-0.331;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=2.983e-05;gnomAD_exome_ASJ=0.0027;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-809.962,0,-1085.85:963:517:420:12612:15856:517,420 . . . . . . . . . . . chr2 179476246 . A G 11337.50 . AB=0.459053;ABP=22.3937;AC=1;AF=0.5;AN=2;AO=611;CIGAR=1X;DP=1331;DPB=1331;DPRA=0;EPP=6.88057;EPPR=50.262;GTI=0;LEN=1;MEANALT=3;MQM=39.2946;MQMR=40.155;NS=1;NUMALT=1;ODDS=2610.55;PAIRED=0.977087;PAIREDR=0.979532;PAO=0;PQA=0;PQR=0;PRO=0;QA=17960;QR=21693;RO=684;RPL=363;RPP=50.0115;RPPR=27.5949;RPR=248;RUN=1;SAF=276;SAP=15.3817;SAR=335;SF=0;SRF=301;SRP=24.3568;SRR=383;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon97:c.T23515C:p.S7839P,TTN:NM_133432:exon98:c.T23890C:p.S7964P,TTN:NM_133437:exon98:c.T24091C:p.S8031P,TTN:NM_133378:exon218:c.T43006C:p.S14336P,TTN:NM_001256850:exon219:c.T45787C:p.S15263P,TTN:NM_001267550:exon269:c.T50710C:p.S16904P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.176;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.735;MutationAssessor_pred=N;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-3.14;PROVEAN_pred=D;VEST3_score=0.599;CADD_raw=2.398;CADD_phred=18.80;DANN_score=0.954;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.590;MetaSVM_pred=T;MetaLR_score=0.242;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.95;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.424;GDI_full_10282015=.;dpsi_max_tissue=0.0167;dpsi_zscore=0.114;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1149.11,0,-1471.64:1331:684:611:17960:21693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179477267 . T G 2241.10 . AB=0.485255;ABP=3.71472;AC=9;AF=0.5;AN=18;AO=181;CIGAR=1X;DP=2864;DPB=373;DPRA=0;EPP=23.1774;EPPR=11.2983;GTI=0;LEN=1;MEANALT=2;MQM=37.1436;MQMR=36.0366;NS=1;NUMALT=1;ODDS=666.553;PAIRED=0.994475;PAIREDR=0.984293;PAO=0;PQA=0;PQR=0;PRO=0;QA=5090;QR=5540;RO=191;RPL=112;RPP=25.1929;RPPR=12.5716;RPR=69;RUN=1;SAF=64;SAP=36.7101;SAR=117;SF=0,1;SRF=66;SRP=42.5857;SRR=125;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon94:c.A22790C:p.N7597T,TTN:NM_133432:exon95:c.A23165C:p.N7722T,TTN:NM_133437:exon95:c.A23366C:p.N7789T,TTN:NM_133378:exon215:c.A42281C:p.N14094T,TTN:NM_001256850:exon216:c.A45062C:p.N15021T,TTN:NM_001267550:exon266:c.A49985C:p.N16662T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0198;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0198;1000g2015aug_all=0.00638978;avsnp147=rs36043230;Kaviar_AF=0.015472;Kaviar_AC=2392;Kaviar_AN=154602;ExAC_ALL=0.0160;ExAC_AFR=0.0042;ExAC_AMR=0.0080;ExAC_EAS=0;ExAC_FIN=0.0132;ExAC_NFE=0.0235;ExAC_OTH=0.0150;ExAC_SAS=0.0079;CLNALLELEID=56202;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.169;SIFT_pred=T;Polyphen2_HDIV_score=0.956;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.715;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=1.745;MutationAssessor_pred=L;FATHMM_score=0.35;FATHMM_pred=T;PROVEAN_score=-3.93;PROVEAN_pred=D;VEST3_score=0.296;CADD_raw=1.693;CADD_phred=14.37;DANN_score=0.911;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.719;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.71;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.977;GDI_full_10282015=.;dpsi_max_tissue=0.0639;dpsi_zscore=0.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0159;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0094;gnomAD_exome_ASJ=0.0546;gnomAD_exome_EAS=5.936e-05;gnomAD_exome_FIN=0.0141;gnomAD_exome_NFE=0.0211;gnomAD_exome_OTH=0.0202;gnomAD_exome_SAS=0.0077;gnomAD_genome_ALL=0.0141;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0208;gnomAD_genome_OTH=0.0183;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-304.255,0,-334.708:373:191:181:5090:5540 . . . . . . . . . . . . . . . . . . . 0/1:-200.736,0,-321.647:321:176:140:3679:5263 . 0/1:-304.368,0,-361.529:354:189:165:4989:5773 . . . . . 0/1:-106.057,0,-136.688:135:72:59:1674:2146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-206.652,0,-264.644:275:150:123:3573:4495 . . . . . . . . . . . 0/1:-245.222,0,-292.433:296:146:144:4086:4576 . . . . . . . . . 0/1:-187.428,0,-290.492:276:156:118:3271:4668 . . . . . 0/1:-415.737,0,-502.312:514:274:234:6683:8007 . . . . . . . . . . . . 0/1:-193.728,0,-439.05:320:201:115:3469:6328:201,115 . . . . . . . . chr2 179477529 . C G 6748.98 . AB=0.469413;ABP=9.5193;AC=1;AF=0.5;AN=2;AO=376;CIGAR=1X;DP=801;DPB=801;DPRA=0;EPP=8.9241;EPPR=7.47536;GTI=0;LEN=1;MEANALT=3;MQM=37.2447;MQMR=37.9267;NS=1;NUMALT=1;ODDS=1554.01;PAIRED=0.928191;PAIREDR=0.91198;PAO=0;PQA=0;PQR=0;PRO=0;QA=11337;QR=12558;RO=409;RPL=103;RPP=169.913;RPPR=120.88;RPR=273;RUN=1;SAF=187;SAP=3.0334;SAR=189;SF=0;SRF=181;SRP=14.7384;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon93:c.G22724C:p.S7575T,TTN:NM_133432:exon94:c.G23099C:p.S7700T,TTN:NM_133437:exon94:c.G23300C:p.S7767T,TTN:NM_133378:exon214:c.G42215C:p.S14072T,TTN:NM_001256850:exon215:c.G44996C:p.S14999T,TTN:NM_001267550:exon265:c.G49919C:p.S16640T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs55663050;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;ExAC_ALL=0.0045;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0240;CLNALLELEID=56201;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.62;MutationAssessor_pred=L;FATHMM_score=-0.11;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_pred=N;VEST3_score=0.243;CADD_raw=2.501;CADD_phred=19.47;DANN_score=0.916;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.155;MetaSVM_pred=T;MetaLR_score=0.443;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.71;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=19.85;GDI_full_10282015=.;dpsi_max_tissue=0.0797;dpsi_zscore=0.416;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.912e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0220;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-700.757,0,-810.982:801:409:376:11337:12558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179477717 . A G 2372.88 . AB=0.514151;ABP=3.74778;AC=4;AF=0.5;AN=8;AO=218;CIGAR=1X;DP=1030;DPB=424;DPRA=0;EPP=51.8186;EPPR=34.6704;GTI=0;LEN=1;MEANALT=3;MQM=37.289;MQMR=38.11;NS=1;NUMALT=1;ODDS=864.811;PAIRED=0.981651;PAIREDR=0.995;PAO=0;PQA=0;PQR=0;PRO=0;QA=6674;QR=6198;RO=200;RPL=94;RPP=11.9751;RPPR=7.35324;RPR=124;RUN=1;SAF=152;SAP=76.681;SAR=66;SF=0,1;SRF=131;SRP=44.746;SRR=69;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon93:c.T22536C:p.H7512H,TTN:NM_133432:exon94:c.T22911C:p.H7637H,TTN:NM_133437:exon94:c.T23112C:p.H7704H,TTN:NM_133378:exon214:c.T42027C:p.H14009H,TTN:NM_001256850:exon215:c.T44808C:p.H14936H,TTN:NM_001267550:exon265:c.T49731C:p.H16577H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0306;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0306;esp6500siv2_ea=0.0130;1000g2015aug_all=0.0736821;avsnp147=rs2115558;Kaviar_AF=0.0325352;Kaviar_AC=5030;Kaviar_AN=154602;ExAC_ALL=0.0348;ExAC_AFR=0.0755;ExAC_AMR=0.0122;ExAC_EAS=0.1320;ExAC_FIN=0.0388;ExAC_NFE=0.0140;ExAC_OTH=0.0357;ExAC_SAS=0.0593;CLNALLELEID=56200;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1266;dpsi_zscore=-0.524;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0341;gnomAD_exome_AFR=0.0741;gnomAD_exome_AMR=0.0133;gnomAD_exome_ASJ=0.0257;gnomAD_exome_EAS=0.1344;gnomAD_exome_FIN=0.0403;gnomAD_exome_NFE=0.0126;gnomAD_exome_OTH=0.0290;gnomAD_exome_SAS=0.0579;gnomAD_genome_ALL=0.0398;gnomAD_genome_AFR=0.0765;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1332;gnomAD_genome_FIN=0.0393;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-423.843,0,-390.75:424:200:218:6674:6198 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-92.4846,0,-132.06:120:66:51:1491:2066 . . . . . . . 0/1:-245.509,0,-245.537:253:127:119:3709:3905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-239.371,0,-219.257:233:111:118:3628:3325:111,118 . . . . . . . . . . . . . . . . . . chr2 179478639 . T A 10929.20 . AB=0.471264;ABP=11.7461;AC=1;AF=0.5;AN=2;AO=574;CIGAR=1X;DP=1218;DPB=1218;DPRA=0;EPP=291.188;EPPR=339.643;GTI=0;LEN=1;MEANALT=3;MQM=38.2544;MQMR=39.2075;NS=1;NUMALT=1;ODDS=2516.54;PAIRED=0.939024;PAIREDR=0.957547;PAO=0;PQA=0;PQR=0;PRO=0;QA=18026;QR=20658;RO=636;RPL=333;RPP=35.0301;RPPR=60.7114;RPR=241;RUN=1;SAF=320;SAP=19.4893;SAR=254;SF=0;SRF=334;SRP=6.50651;SRR=302;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon91:c.A22176T:p.L7392L,TTN:NM_133432:exon92:c.A22551T:p.L7517L,TTN:NM_133437:exon92:c.A22752T:p.L7584L,TTN:NM_133378:exon212:c.A41667T:p.L13889L,TTN:NM_001256850:exon213:c.A44448T:p.L14816L,TTN:NM_001267550:exon263:c.A49371T:p.L16457L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs146163169;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0240;CLNALLELEID=56193;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1281;dpsi_zscore=0.562;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.865e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0223;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1136.53,0,-1374.7:1218:636:574:18026:20658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179478953 . G A 11522.40 . AB=0.498856;ABP=3.02521;AC=1;AF=0.5;AN=2;AO=654;CIGAR=1X;DP=1311;DPB=1311;DPRA=0;EPP=68.0881;EPPR=20.6943;GTI=0;LEN=1;MEANALT=3;MQM=38.2416;MQMR=38.6284;NS=1;NUMALT=1;ODDS=2653.13;PAIRED=0.970948;PAIREDR=0.975767;PAO=0;PQA=0;PQR=0;PRO=0;QA=18468;QR=18467;RO=619;RPL=359;RPP=16.6102;RPPR=36.0174;RPR=295;RUN=1;SAF=282;SAP=29.9047;SAR=372;SF=0;SRF=254;SRP=46.2328;SRR=365;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon90:c.C21976T:p.R7326X,TTN:NM_133432:exon91:c.C22351T:p.R7451X,TTN:NM_133437:exon91:c.C22552T:p.R7518X,TTN:NM_133378:exon211:c.C41467T:p.R13823X,TTN:NM_001256850:exon212:c.C44248T:p.R14750X,TTN:NM_001267550:exon262:c.C49171T:p.R16391X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs570046043;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=19.352;CADD_phred=61;DANN_score=0.986;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=3.38;phyloP7way_vertebrate=-0.683;phyloP20way_mammalian=-0.282;phastCons7way_vertebrate=0.974;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=12.981;GDI_full_10282015=.;dpsi_max_tissue=-61.1765;dpsi_zscore=-3.635;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-1171.22,0,-1170:1311:619:654:18468:18467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179478957 . C T 11285.10 . AB=0.495349;ABP=3.2527;AC=1;AF=0.5;AN=2;AO=639;CIGAR=1X;DP=1290;DPB=1290;DPRA=0;EPP=20.1408;EPPR=12.6464;GTI=0;LEN=1;MEANALT=3;MQM=38.2488;MQMR=38.5513;NS=1;NUMALT=1;ODDS=2598.5;PAIRED=0.973396;PAIREDR=0.955766;PAO=0;PQA=0;PQR=0;PRO=0;QA=18159;QR=19531;RO=633;RPL=325;RPP=3.42149;RPPR=4.82501;RPR=314;RUN=1;SAF=255;SAP=59.5603;SAR=384;SF=0;SRF=239;SRP=85.4268;SRR=394;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon90:c.G21972A:p.E7324E,TTN:NM_133432:exon91:c.G22347A:p.E7449E,TTN:NM_133437:exon91:c.G22548A:p.E7516E,TTN:NM_133378:exon211:c.G41463A:p.E13821E,TTN:NM_001256850:exon212:c.G44244A:p.E14748E,TTN:NM_001267550:exon262:c.G49167A:p.E16389E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0969;dpsi_zscore=0.474;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1144.11,0,-1255.81:1290:633:639:18159:19531 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179479245 . C T 3912.66 . AB=0.468278;ABP=8.79652;AC=4;AF=0.5;AN=8;AO=310;CIGAR=1X;DP=1840;DPB=662;DPRA=0;EPP=128.788;EPPR=215.488;GTI=0;LEN=1;MEANALT=3;MQM=38.2355;MQMR=38.9335;NS=1;NUMALT=1;ODDS=1312.98;PAIRED=0.996774;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9550;QR=11235;RO=346;RPL=98;RPP=94.044;RPPR=133.148;RPR=212;RUN=1;SAF=176;SAP=15.3667;SAR=134;SF=0,1;SRF=222;SRP=63.2843;SRR=124;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon89:c.G21801A:p.E7267E,TTN:NM_133432:exon90:c.G22176A:p.E7392E,TTN:NM_133437:exon90:c.G22377A:p.E7459E,TTN:NM_133378:exon210:c.G41292A:p.E13764E,TTN:NM_001256850:exon211:c.G44073A:p.E14691E,TTN:NM_001267550:exon261:c.G48996A:p.E16332E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0127;1000g2015aug_all=0.072484;avsnp147=rs72677244;Kaviar_AF=0.0318883;Kaviar_AC=4930;Kaviar_AN=154602;ExAC_ALL=0.0342;ExAC_AFR=0.0710;ExAC_AMR=0.0121;ExAC_EAS=0.1273;ExAC_FIN=0.0388;ExAC_NFE=0.0140;ExAC_OTH=0.0369;ExAC_SAS=0.0603;CLNALLELEID=56191;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0805;dpsi_zscore=0.420;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0335;gnomAD_exome_AFR=0.0699;gnomAD_exome_AMR=0.0130;gnomAD_exome_ASJ=0.0257;gnomAD_exome_EAS=0.1314;gnomAD_exome_FIN=0.0403;gnomAD_exome_NFE=0.0126;gnomAD_exome_OTH=0.0282;gnomAD_exome_SAS=0.0577;gnomAD_genome_ALL=0.0380;gnomAD_genome_AFR=0.0713;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1286;gnomAD_genome_FIN=0.0392;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0244;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-601.669,0,-742.645:662:346:310:9550:11235 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-191.226,0,-211.765:195:95:94:2912:3133 . . . . . . . 0/1:-355.559,0,-397.88:358:182:171:5530:5903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-618.941,0,-694.816:625:320:294:9457:10261:320,294 . . . . . . . . . . . . . . . . . . chr2 179479607 . G A 7725.47 . AB=0.446269;ABP=19.8117;AC=2;AF=0.5;AN=4;AO=299;CIGAR=1X;DP=1750;DPB=670;DPRA=0;EPP=21.8999;EPPR=30.4687;GTI=0;LEN=1;MEANALT=3;MQM=37.7759;MQMR=38.093;NS=1;NUMALT=1;ODDS=1227.42;PAIRED=0.979933;PAIREDR=0.946479;PAO=0;PQA=0;PQR=0;PRO=0;QA=9015;QR=11005;RO=355;RPL=195;RPP=63.1506;RPPR=24.303;RPR=104;RUN=1;SAF=106;SAP=57.9798;SAR=193;SF=0;SRF=172;SRP=3.75044;SRR=183;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon88:c.C21532T:p.P7178S,TTN:NM_133432:exon89:c.C21907T:p.P7303S,TTN:NM_133437:exon89:c.C22108T:p.P7370S,TTN:NM_133378:exon209:c.C41023T:p.P13675S,TTN:NM_001256850:exon210:c.C43804T:p.P14602S,TTN:NM_001267550:exon260:c.C48727T:p.P16243S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0033;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0033;1000g2015aug_all=0.00159744;avsnp147=rs72677242;Kaviar_AF=0.0025161;Kaviar_AC=389;Kaviar_AN=154602;ExAC_ALL=0.0052;ExAC_AFR=0.0002;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0200;ExAC_NFE=0.0070;ExAC_OTH=0.0078;ExAC_SAS=0.0004;CLNALLELEID=56189;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.423;SIFT_pred=T;Polyphen2_HDIV_score=0.307;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.94;MutationAssessor_pred=L;FATHMM_score=0.51;FATHMM_pred=T;PROVEAN_score=-4.05;PROVEAN_pred=D;VEST3_score=0.391;CADD_raw=2.410;CADD_phred=18.89;DANN_score=0.920;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.964;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.63;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=20.040;GDI_full_10282015=.;dpsi_max_tissue=-0.1273;dpsi_zscore=-0.526;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=8.603e-05;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0154;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0065;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0129;gnomAD_genome_NFE=0.0095;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-555.159,0,-711.539:670:355:299:9015:11005 . . . . . . . . . . . . . . . 0/1:-1033.89,0,-1076.15:1080:528:535:16078:16579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179479698 . G C 8853.27 . AB=0.467647;ABP=12.2838;AC=1;AF=0.5;AN=2;AO=477;CIGAR=1X;DP=1020;DPB=1020;DPRA=0;EPP=3.23337;EPPR=3.51077;GTI=0;LEN=1;MEANALT=3;MQM=37.8826;MQMR=39.8152;NS=1;NUMALT=1;ODDS=2038.54;PAIRED=0.926625;PAIREDR=0.965714;PAO=0;PQA=0;PQR=0;PRO=0;QA=14403;QR=16124;RO=525;RPL=244;RPP=3.56113;RPPR=3.1137;RPR=233;RUN=1;SAF=198;SAP=32.8783;SAR=279;SF=0;SRF=235;SRP=15.5221;SRR=290;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N,TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.3576;dpsi_zscore=-2.541;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-896.81,0,-1080.82:1020:525:477:14403:16124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179482089 . C T 8873.68 . AB=0.503695;ABP=3.10657;AC=4;AF=0.5;AN=8;AO=409;CIGAR=1X;DP=3609;DPB=812;DPRA=0;EPP=3.90756;EPPR=3.68575;GTI=0;LEN=1;MEANALT=3;MQM=39.78;MQMR=40.1799;NS=1;NUMALT=1;ODDS=1759.94;PAIRED=0.968215;PAIREDR=0.971722;PAO=0;PQA=0;PQR=0;PRO=0;QA=12864;QR=11770;RO=389;RPL=214;RPP=4.92693;RPPR=3.46246;RPR=195;RUN=1;SAF=178;SAP=17.9239;SAR=231;SF=0;SRF=172;SRP=14.3142;SRR=217;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon82:c.G20528A:p.R6843H,TTN:NM_133432:exon83:c.G20903A:p.R6968H,TTN:NM_133437:exon83:c.G21104A:p.R7035H,TTN:NM_133378:exon203:c.G40019A:p.R13340H,TTN:NM_001256850:exon204:c.G42800A:p.R14267H,TTN:NM_001267550:exon254:c.G47723A:p.R15908H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0088;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0088;1000g2015aug_all=0.00299521;avsnp147=rs72677237;Kaviar_AF=0.0064359;Kaviar_AC=995;Kaviar_AN=154602;ExAC_ALL=0.0113;ExAC_AFR=0.0025;ExAC_AMR=0.0103;ExAC_EAS=0;ExAC_FIN=0.0025;ExAC_NFE=0.0146;ExAC_OTH=0.0181;ExAC_SAS=0.0142;CLNALLELEID=56180;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.15;MutationAssessor_pred=M;FATHMM_score=0.48;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_pred=D;VEST3_score=0.448;CADD_raw=4.000;CADD_phred=23.6;DANN_score=0.955;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.422;MetaSVM_pred=T;MetaLR_score=0.293;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=20.351;GDI_full_10282015=.;dpsi_max_tissue=-0.0862;dpsi_zscore=-0.406;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0229;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0075;gnomAD_exome_OTH=0.0106;gnomAD_exome_SAS=0.0110;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0069;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-862.037,0,-773.411:812:389:409:12864:11770 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-785.043,0,-903.117:815:420:383:11923:13279 . . . . . . . . . . . . . . . . . 0/1:-685.924,0,-785.984:804:408:383:10992:12016 . . . . . . . . 0/1:-1259.78,0,-1161.86:1178:563:594:18605:17671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179482533 . G T 6186.77 . AB=0.482445;ABP=5.06882;AC=1;AF=0.5;AN=2;AO=371;CIGAR=1X;DP=769;DPB=769;DPRA=0;EPP=49.3721;EPPR=11.9648;GTI=0;LEN=1;MEANALT=3;MQM=37.965;MQMR=39.2758;NS=1;NUMALT=1;ODDS=1424.56;PAIRED=0.967655;PAIREDR=0.979381;PAO=0;PQA=0;PQR=0;PRO=0;QA=10244;QR=11495;RO=388;RPL=137;RPP=58.0814;RPPR=73.2138;RPR=234;RUN=1;SAF=168;SAP=10.1803;SAR=203;SF=0;SRF=166;SRP=20.5612;SRR=222;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon81:c.C20350A:p.P6784T,TTN:NM_133432:exon82:c.C20725A:p.P6909T,TTN:NM_133437:exon82:c.C20926A:p.P6976T,TTN:NM_133378:exon202:c.C39841A:p.P13281T,TTN:NM_001256850:exon203:c.C42622A:p.P14208T,TTN:NM_001267550:exon253:c.C47545A:p.P15849T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs146181477;Kaviar_AF=0.0036804;Kaviar_AC=569;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0233;CLNALLELEID=56178;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.55;SIFT_pred=T;Polyphen2_HDIV_score=0.255;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.071;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.814;MutationTaster_pred=N;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=0.74;FATHMM_pred=T;PROVEAN_score=-3.86;PROVEAN_pred=D;VEST3_score=0.276;CADD_raw=1.986;CADD_phred=16.12;DANN_score=0.894;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.891;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.54;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.841;GDI_full_10282015=.;dpsi_max_tissue=0.2156;dpsi_zscore=0.752;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0220;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-637.388,0,-749.231:769:388:371:10244:11495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179482763 . C T 5909.01 . AB=0.464748;ABP=10.512;AC=1;AF=0.5;AN=2;AO=323;CIGAR=1X;DP=695;DPB=695;DPRA=0;EPP=4.14646;EPPR=4.77806;GTI=0;LEN=1;MEANALT=3;MQM=38.4582;MQMR=39.138;NS=1;NUMALT=1;ODDS=1360.6;PAIRED=0.972136;PAIREDR=0.974648;PAO=0;PQA=0;PQR=0;PRO=0;QA=9712;QR=10641;RO=355;RPL=214;RPP=77.1294;RPPR=81.116;RPR=109;RUN=1;SAF=198;SAP=38.8362;SAR=125;SF=0;SRF=205;SRP=21.5137;SRR=150;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon81:c.G20120A:p.R6707Q,TTN:NM_133432:exon82:c.G20495A:p.R6832Q,TTN:NM_133437:exon82:c.G20696A:p.R6899Q,TTN:NM_133378:exon202:c.G39611A:p.R13204Q,TTN:NM_001256850:exon203:c.G42392A:p.R14131Q,TTN:NM_001267550:exon253:c.G47315A:p.R15772Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0048;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0048;1000g2015aug_all=0.00139776;avsnp147=rs72677233;Kaviar_AF=0.002956;Kaviar_AC=457;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0008;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0047;ExAC_OTH=0.0078;ExAC_SAS=0.0012;CLNALLELEID=56175;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.574;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.195;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.987;MutationTaster_pred=D;MutationAssessor_score=1.045;MutationAssessor_pred=L;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_pred=N;VEST3_score=0.318;CADD_raw=2.469;CADD_phred=19.27;DANN_score=0.930;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.905;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=4.85;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.059;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.909;SiPhy_29way_logOdds=15.227;GDI_full_10282015=.;dpsi_max_tissue=-0.0745;dpsi_zscore=-0.365;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0033;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0315;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0063;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-610.042,0,-703.68:695:355:323:9712:10641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179484371 . GCTTCTTT GCTTT 4931.71 . AB=0.456853;ABP=15.7525;AC=1;AF=0.5;AN=2;AO=360;CIGAR=1M3D4M;DP=788;DPB=670.5;DPRA=0;EPP=41.6143;EPPR=12.1787;GTI=0;LEN=3;MEANALT=45;MQM=38.4278;MQMR=39.7544;NS=1;NUMALT=1;ODDS=1135.57;PAIRED=0.975;PAIREDR=0.98538;PAO=19;PQA=439;PQR=565;PRO=22;QA=8132;QR=10480;RO=342;RPL=158;RPP=14.688;RPPR=3.0103;RPR=202;RUN=1;SAF=174;SAP=3.87889;SAR=186;SF=0;SRF=191;SRP=13.1692;SRR=151;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TTN:NM_003319:exon78:c.19475_19477del:p.6492_6493del,TTN:NM_133432:exon79:c.19850_19852del:p.6617_6618del,TTN:NM_133437:exon79:c.20051_20053del:p.6684_6685del,TTN:NM_133378:exon199:c.38966_38968del:p.12989_12990del,TTN:NM_001256850:exon200:c.41747_41749del:p.13916_13917del,TTN:NM_001267550:exon250:c.46670_46672del:p.15557_15558del;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=228755;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-506.058,0,-703.737:788:342:360:8132:10480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179484735 . C T 9331.07 . AB=0.450233;ABP=26.137;AC=1;AF=0.5;AN=2;AO=484;CIGAR=1X;DP=1075;DPB=1075;DPRA=0;EPP=19.1617;EPPR=7.63648;GTI=0;LEN=1;MEANALT=3;MQM=40.4628;MQMR=40.2626;NS=1;NUMALT=1;ODDS=2148.56;PAIRED=0.981405;PAIREDR=0.97913;PAO=0;PQA=0;PQR=0;PRO=0;QA=14912;QR=17397;RO=575;RPL=244;RPP=3.08208;RPPR=3.10471;RPR=240;RUN=1;SAF=116;SAP=287.922;SAR=368;SF=0;SRF=185;SRP=161.717;SRR=390;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon77:c.G19214A:p.R6405H,TTN:NM_133432:exon78:c.G19589A:p.R6530H,TTN:NM_133437:exon78:c.G19790A:p.R6597H,TTN:NM_133378:exon198:c.G38705A:p.R12902H,TTN:NM_001256850:exon199:c.G41486A:p.R13829H,TTN:NM_001267550:exon249:c.G46409A:p.R15470H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769044716;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.381e-06;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=199320;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.49;MutationAssessor_pred=L;FATHMM_score=-1.04;FATHMM_pred=T;PROVEAN_score=-3.25;PROVEAN_pred=D;VEST3_score=0.435;CADD_raw=3.957;CADD_phred=23.6;DANN_score=0.954;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=0.153;MetaSVM_pred=D;MetaLR_score=0.581;MetaLR_pred=D;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.73;phyloP7way_vertebrate=0.598;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.544;phastCons20way_mammalian=0.916;SiPhy_29way_logOdds=20.289;GDI_full_10282015=.;dpsi_max_tissue=-0.3054;dpsi_zscore=-0.861;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.652e-05;gnomAD_exome_AFR=6.582e-05;gnomAD_exome_AMR=3.009e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.509e-05;gnomAD_exome_NFE=9.142e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-974.235,0,-1180.22:1075:575:484:14912:17397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179484758 . G A 5615.00 . AB=0.507826;ABP=3.31619;AC=1;AF=0.5;AN=2;AO=292;CIGAR=1X;DP=575;DPB=575;DPRA=0;EPP=132.585;EPPR=168.083;GTI=0;LEN=1;MEANALT=3;MQM=39.6199;MQMR=39.4275;NS=1;NUMALT=1;ODDS=1148.65;PAIRED=0.979452;PAIREDR=0.951673;PAO=0;PQA=0;PQR=0;PRO=0;QA=8958;QR=8175;RO=269;RPL=172;RPP=23.1187;RPPR=3.40585;RPR=120;RUN=1;SAF=94;SAP=83.444;SAR=198;SF=0;SRF=112;SRP=19.3569;SRR=157;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon77:c.C19191T:p.C6397C,TTN:NM_133432:exon78:c.C19566T:p.C6522C,TTN:NM_133437:exon78:c.C19767T:p.C6589C,TTN:NM_133378:exon198:c.C38682T:p.C12894C,TTN:NM_001256850:exon199:c.C41463T:p.C13821C,TTN:NM_001267550:exon249:c.C46386T:p.C15462C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs147703145;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.18e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=4.528e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56164;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2585;dpsi_zscore=-0.790;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.462e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.73e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.483e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-592.769,0,-525.462:575:269:292:8958:8175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179485599 . A G 11259.35 . AB=0.476543;ABP=8.81698;AC=2;AF=0.5;AN=4;AO=579;CIGAR=1X;DP=2467;DPB=1215;DPRA=0;EPP=4.66422;EPPR=5.0342;GTI=0;LEN=1;MEANALT=3;MQM=39.639;MQMR=39.4773;NS=1;NUMALT=1;ODDS=2518.14;PAIRED=0.965458;PAIREDR=0.969256;PAO=0;PQA=0;PQR=0;PRO=0;QA=17073;QR=19778;RO=618;RPL=283;RPP=3.64411;RPPR=30.2205;RPR=296;RUN=1;SAF=292;SAP=3.10406;SAR=287;SF=0;SRF=328;SRP=8.0841;SRR=290;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon75:c.T18543C:p.A6181A,TTN:NM_133432:exon76:c.T18918C:p.A6306A,TTN:NM_133437:exon76:c.T19119C:p.A6373A,TTN:NM_133378:exon196:c.T38034C:p.A12678A,TTN:NM_001256850:exon197:c.T40815C:p.A13605A,TTN:NM_001267550:exon247:c.T45738C:p.A15246A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0224;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0224;1000g2015aug_all=0.0363419;avsnp147=rs2303829;Kaviar_AF=0.0312739;Kaviar_AC=4835;Kaviar_AN=154602;ExAC_ALL=0.0333;ExAC_AFR=0.0039;ExAC_AMR=0.0365;ExAC_EAS=0.1043;ExAC_FIN=0.0527;ExAC_NFE=0.0271;ExAC_OTH=0.0278;ExAC_SAS=0.0302;CLNALLELEID=56158;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0683;dpsi_zscore=-0.341;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0329;gnomAD_exome_AFR=0.0051;gnomAD_exome_AMR=0.0350;gnomAD_exome_ASJ=0.0156;gnomAD_exome_EAS=0.1027;gnomAD_exome_FIN=0.0487;gnomAD_exome_NFE=0.0249;gnomAD_exome_OTH=0.0291;gnomAD_exome_SAS=0.0286;gnomAD_genome_ALL=0.0264;gnomAD_genome_AFR=0.0050;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0938;gnomAD_genome_FIN=0.0539;gnomAD_genome_NFE=0.0248;gnomAD_genome_OTH=0.0347;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1102.2,0,-1309.94:1215:618:579:17073:19778 . . . . . . . . . . . . . . . . . . . 0/1:-1167.81,0,-1397.54:1252:643:590:17962:20638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179485682 . C A 6169.07 . AB=0.469086;ABP=9.18615;AC=1;AF=0.5;AN=2;AO=349;CIGAR=1X;DP=744;DPB=744;DPRA=0;EPP=7.54613;EPPR=4.45795;GTI=0;LEN=1;MEANALT=3;MQM=39.2865;MQMR=39.4557;NS=1;NUMALT=1;ODDS=1420.48;PAIRED=0.985673;PAIREDR=0.984375;PAO=0;PQA=0;PQR=0;PRO=0;QA=10178;QR=11589;RO=384;RPL=268;RPP=220.587;RPPR=144.179;RPR=81;RUN=1;SAF=160;SAP=8.24299;SAR=189;SF=0;SRF=195;SRP=3.21388;SRR=189;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon75:c.G18460T:p.V6154L,TTN:NM_133432:exon76:c.G18835T:p.V6279L,TTN:NM_133437:exon76:c.G19036T:p.V6346L,TTN:NM_133378:exon196:c.G37951T:p.V12651L,TTN:NM_001256850:exon197:c.G40732T:p.V13578L,TTN:NM_001267550:exon247:c.G45655T:p.V15219L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.085;SIFT_pred=T;Polyphen2_HDIV_score=0.826;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.473;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.67;MutationAssessor_pred=M;FATHMM_score=-0.53;FATHMM_pred=T;PROVEAN_score=-2.16;PROVEAN_pred=N;VEST3_score=0.398;CADD_raw=3.186;CADD_phred=22.7;DANN_score=0.930;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.042;MetaSVM_pred=T;MetaLR_score=0.445;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.83;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.923;phastCons20way_mammalian=0.940;SiPhy_29way_logOdds=20.116;GDI_full_10282015=.;dpsi_max_tissue=0.0542;dpsi_zscore=0.317;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-648.753,0,-774.827:744:384:349:10178:11589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179485846 . G C 2631.65 . AB=0.407202;ABP=30.0123;AC=1;AF=0.5;AN=2;AO=147;CIGAR=1X;DP=361;DPB=361;DPRA=0;EPP=3.3796;EPPR=3.40116;GTI=0;LEN=1;MEANALT=3;MQM=39.1293;MQMR=38.875;NS=1;NUMALT=1;ODDS=605.96;PAIRED=0.986395;PAIREDR=0.97;PAO=0;PQA=0;PQR=0;PRO=0;QA=4422;QR=6169;RO=200;RPL=76;RPP=3.3796;RPPR=25.9845;RPR=71;RUN=1;SAF=62;SAP=10.8246;SAR=85;SF=0;SRF=80;SRP=20.3821;SRR=120;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon74:c.C18404G:p.A6135G,TTN:NM_133432:exon75:c.C18779G:p.A6260G,TTN:NM_133437:exon75:c.C18980G:p.A6327G,TTN:NM_133378:exon195:c.C37895G:p.A12632G,TTN:NM_001256850:exon196:c.C40676G:p.A13559G,TTN:NM_001267550:exon246:c.C45599G:p.A15200G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs201057307;Kaviar_AF=0.0003558;Kaviar_AC=55;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=8.811e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.434;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.182;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.445;MutationAssessor_pred=M;FATHMM_score=0.79;FATHMM_pred=T;PROVEAN_score=-2.82;PROVEAN_pred=D;VEST3_score=0.347;CADD_raw=2.918;CADD_phred=21.9;DANN_score=0.927;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.719;MetaSVM_pred=T;MetaLR_score=0.192;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.69;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.803;GDI_full_10282015=.;dpsi_max_tissue=-0.0604;dpsi_zscore=-0.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM152825#"Muscular_dystrophy_limb_girdle_adult_onset";gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.993e-05;gnomAD_exome_ASJ=0.0116;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-272.693,0,-411.205:361:200:147:4422:6169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179486223 . C T 4332.90 . AB=0.451613;ABP=15.6188;AC=2;AF=0.5;AN=4;AO=280;CIGAR=1X;DP=1111;DPB=620;DPRA=0;EPP=4.99565;EPPR=3.32983;GTI=0;LEN=1;MEANALT=3;MQM=38.5929;MQMR=39.021;NS=1;NUMALT=1;ODDS=1141.09;PAIRED=0.957143;PAIREDR=0.975976;PAO=0;PQA=0;PQR=0;PRO=0;QA=8108;QR=9788;RO=333;RPL=130;RPP=6.1124;RPPR=15.0675;RPR=150;RUN=1;SAF=118;SAP=18.0245;SAR=162;SF=0;SRF=163;SRP=3.32983;SRR=170;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon73:c.G18133A:p.D6045N,TTN:NM_133432:exon74:c.G18508A:p.D6170N,TTN:NM_133437:exon74:c.G18709A:p.D6237N,TTN:NM_133378:exon194:c.G37624A:p.D12542N,TTN:NM_001256850:exon195:c.G40405A:p.D13469N,TTN:NM_001267550:exon245:c.G45328A:p.D15110N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0096;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0096;1000g2015aug_all=0.00299521;avsnp147=rs17354992;Kaviar_AF=0.0069598;Kaviar_AC=1076;Kaviar_AN=154602;ExAC_ALL=0.0076;ExAC_AFR=0.0008;ExAC_AMR=0.0024;ExAC_EAS=0;ExAC_FIN=0.0309;ExAC_NFE=0.0079;ExAC_OTH=0.0056;ExAC_SAS=0.0084;CLNALLELEID=56152;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.219;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.881;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.22;FATHMM_pred=T;PROVEAN_score=-1.85;PROVEAN_pred=N;VEST3_score=0.047;CADD_raw=3.654;CADD_phred=23.2;DANN_score=0.985;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.032;MetaSVM_pred=T;MetaLR_score=0.085;MetaLR_pred=T;integrated_fitCons_score=0.578;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.736;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=8.179;GDI_full_10282015=.;dpsi_max_tissue=0.0047;dpsi_zscore=0.033;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM168500#"Muscular_dystrophy";gnomAD_exome_ALL=0.0080;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0125;gnomAD_exome_EAS=5.869e-05;gnomAD_exome_FIN=0.0298;gnomAD_exome_NFE=0.0072;gnomAD_exome_OTH=0.0063;gnomAD_exome_SAS=0.0080;gnomAD_genome_ALL=0.0083;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0278;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-506.03,0,-647.204:620:333:280:8108:9788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-380.183,0,-496.934:491:252:217:6106:7493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179486345 . T A 6698.92 . AB=0.462406;ABP=12.8064;AC=1;AF=0.5;AN=2;AO=369;CIGAR=1X;DP=798;DPB=798;DPRA=0;EPP=5.60547;EPPR=5.29579;GTI=0;LEN=1;MEANALT=3;MQM=40.103;MQMR=40.8878;NS=1;NUMALT=1;ODDS=1542.48;PAIRED=0.95393;PAIREDR=0.983294;PAO=0;PQA=0;PQR=0;PRO=0;QA=10999;QR=13671;RO=419;RPL=293;RPP=280.117;RPPR=247.05;RPR=76;RUN=1;SAF=172;SAP=6.68827;SAR=197;SF=1;SRF=194;SRP=7.99069;SRR=225;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon73:c.A18011T:p.E6004V,TTN:NM_133432:exon74:c.A18386T:p.E6129V,TTN:NM_133437:exon74:c.A18587T:p.E6196V,TTN:NM_133378:exon194:c.A37502T:p.E12501V,TTN:NM_001256850:exon195:c.A40283T:p.E13428V,TTN:NM_001267550:exon245:c.A45206T:p.E15069V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0174;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0174;esp6500siv2_ea=0.0013;1000g2015aug_all=0.0169728;avsnp147=rs114331773;Kaviar_AF=0.0054786;Kaviar_AC=847;Kaviar_AN=154602;ExAC_ALL=0.0058;ExAC_AFR=0.0561;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0022;ExAC_SAS=0.0003;CLNALLELEID=56148;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.275;MutationAssessor_pred=L;FATHMM_score=-0.34;FATHMM_pred=T;PROVEAN_score=-5.0;PROVEAN_pred=D;VEST3_score=0.515;CADD_raw=3.242;CADD_phred=22.8;DANN_score=0.940;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.570;MetaSVM_pred=T;MetaLR_score=0.108;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=-0.0344;dpsi_zscore=-0.189;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0052;gnomAD_exome_AFR=0.0564;gnomAD_exome_AMR=0.0039;gnomAD_exome_ASJ=0.0179;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0048;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0161;gnomAD_genome_AFR=0.0541;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-708.388,0,-947.883:798:419:369:10999:13671:419,369 . . . chr2 179486376 . C T 9345.57 . AB=0.477469;ABP=7.60932;AC=1;AF=0.5;AN=2;AO=498;CIGAR=1X;DP=1043;DPB=1043;DPRA=0;EPP=17.6786;EPPR=49.5726;GTI=0;LEN=1;MEANALT=3;MQM=39.3976;MQMR=40.3569;NS=1;NUMALT=1;ODDS=2151.9;PAIRED=0.967871;PAIREDR=0.967557;PAO=0;PQA=0;PQR=0;PRO=0;QA=14812;QR=16218;RO=524;RPL=298;RPP=44.8875;RPPR=38.0854;RPR=200;RUN=1;SAF=322;SAP=95.9563;SAR=176;SF=0;SRF=315;SRP=49.5726;SRR=209;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon73:c.G17980A:p.A5994T,TTN:NM_133432:exon74:c.G18355A:p.A6119T,TTN:NM_133437:exon74:c.G18556A:p.A6186T,TTN:NM_133378:exon194:c.G37471A:p.A12491T,TTN:NM_001256850:exon195:c.G40252A:p.A13418T,TTN:NM_001267550:exon245:c.G45175A:p.A15059T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00339457;avsnp147=rs144668626;Kaviar_AF=0.0027943;Kaviar_AC=432;Kaviar_AN=154602;ExAC_ALL=0.0033;ExAC_AFR=0.0003;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0159;CLNALLELEID=56147;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.047;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.05;MutationAssessor_pred=M;FATHMM_score=-0.24;FATHMM_pred=T;PROVEAN_score=-2.79;PROVEAN_pred=D;VEST3_score=0.468;CADD_raw=4.195;CADD_phred=23.9;DANN_score=0.966;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.074;MetaSVM_pred=T;MetaLR_score=0.501;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=20.879;GDI_full_10282015=.;dpsi_max_tissue=-0.0423;dpsi_zscore=-0.229;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0029;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0152;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-957.731,0,-1097.24:1043:524:498:14812:16218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179497025 . A G 7380.06 . AB=0.467762;ABP=10.1506;AC=1;AF=0.5;AN=2;AO=370;CIGAR=1X;DP=791;DPB=791;DPRA=0;EPP=22.7531;EPPR=17.3314;GTI=0;LEN=1;MEANALT=3;MQM=39.7351;MQMR=40.4439;NS=1;NUMALT=1;ODDS=1699.32;PAIRED=0.948649;PAIREDR=0.973171;PAO=0;PQA=0;PQR=0;PRO=0;QA=11708;QR=13300;RO=410;RPL=268;RPP=164.732;RPPR=142.006;RPR=102;RUN=1;SAF=186;SAP=3.03378;SAR=184;SF=1;SRF=189;SRP=8.43368;SRR=221;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.T16401C:p.N5467N,TTN:NM_133432:exon65:c.T16776C:p.N5592N,TTN:NM_133437:exon65:c.T16977C:p.N5659N,TTN:NM_133378:exon185:c.T35892C:p.N11964N,TTN:NM_001256850:exon186:c.T38673C:p.N12891N,TTN:NM_001267550:exon236:c.T43596C:p.N14532N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0036;1000g2015aug_all=0.0395367;avsnp147=rs16866423;Kaviar_AF=0.0166169;Kaviar_AC=2569;Kaviar_AN=154602;ExAC_ALL=0.0221;ExAC_AFR=0.0010;ExAC_AMR=0.0035;ExAC_EAS=0.1394;ExAC_FIN=0.0260;ExAC_NFE=0.0062;ExAC_OTH=0.0237;ExAC_SAS=0.0454;CLNALLELEID=56135;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0608;dpsi_zscore=0.345;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0185;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0195;gnomAD_exome_EAS=0.1256;gnomAD_exome_FIN=0.0228;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0150;gnomAD_exome_SAS=0.0378;gnomAD_genome_ALL=0.0124;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.1242;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-764.837,0,-907.568:791:410:370:11708:13300:410,370 . . . . . . . . . . . . . . . . . . chr2 179497133 . C T 4948.85 . AB=0.515065;ABP=4.38422;AC=7;AF=0.5;AN=14;AO=359;CIGAR=1X;DP=3977;DPB=697;DPRA=0;EPP=24.0657;EPPR=11.5635;GTI=0;LEN=1;MEANALT=3;MQM=39.3175;MQMR=38.9453;NS=1;NUMALT=1;ODDS=1253.67;PAIRED=0.972145;PAIREDR=0.980707;PAO=0;PQA=0;PQR=0;PRO=0;QA=9946;QR=9211;RO=311;RPL=225;RPP=53.0993;RPPR=53.4569;RPR=134;RUN=1;SAF=247;SAP=113.247;SAR=112;SF=0,1;SRF=230;SRP=158.023;SRR=81;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.G16293A:p.R5431R,TTN:NM_133432:exon65:c.G16668A:p.R5556R,TTN:NM_133437:exon65:c.G16869A:p.R5623R,TTN:NM_133378:exon185:c.G35784A:p.R11928R,TTN:NM_001256850:exon186:c.G38565A:p.R12855R,TTN:NM_001267550:exon236:c.G43488A:p.R14496R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0215;esp6500siv2_ea=0.0290;esp6500siv2_all=0.0215;esp6500siv2_ea=0.0290;1000g2015aug_all=0.00698882;avsnp147=rs56034831;Kaviar_AF=0.0189713;Kaviar_AC=2933;Kaviar_AN=154602;ExAC_ALL=0.0224;ExAC_AFR=0.0053;ExAC_AMR=0.0074;ExAC_EAS=0;ExAC_FIN=0.0370;ExAC_NFE=0.0346;ExAC_OTH=0.0234;ExAC_SAS=7.776e-05;CLNALLELEID=56133;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0528;dpsi_zscore=0.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0200;gnomAD_exome_AFR=0.0043;gnomAD_exome_AMR=0.0066;gnomAD_exome_ASJ=0.0272;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0353;gnomAD_exome_NFE=0.0300;gnomAD_exome_OTH=0.0233;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0277;gnomAD_genome_AFR=0.0061;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0301;gnomAD_genome_NFE=0.0430;gnomAD_genome_OTH=0.0357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-649.85,0,-574.8:697:311:359:9946:9211 . . . . . . . . . 0/1:-594.866,0,-557.033:688:315:345:9262:8767 . . . . . . . . . . . 0/1:-312.671,0,-271.927:363:164:187:5021:4540 . . . . . . . . . . . . . . . . 0/1:-457.25,0,-598.102:589:309:260:7349:9032 . . . . . . . . . . . . . . . . . 0/1:-682.034,0,-677.71:785:373:376:10607:10506 . . . . . 0/1:-425.25,0,-487.218:450:230:212:6462:7154:230,212 . . . 0/1:-389.261,0,-399.874:405:195:193:5839:5922:195,193 . . . . . . . . . . . . . chr2 179498042 . T C 12964.72 . AB=0.503797;ABP=3.10925;AC=36;AF=0.5;AN=64;AO=398;CIGAR=1X;DP=37505;DPB=790;DPRA=0;EPP=5.19268;EPPR=6.87324;GTI=0;LEN=1;MEANALT=3;MQM=39.1834;MQMR=39.8921;NS=1;NUMALT=1;ODDS=1712.6;PAIRED=0.977387;PAIREDR=0.981579;PAO=0;PQA=0;PQR=0;PRO=0;QA=12031;QR=11821;RO=380;RPL=111;RPP=172.014;RPPR=231.586;RPR=287;RUN=1;SAF=204;SAP=3.5559;SAR=194;SF=0,1;SRF=215;SRP=17.2963;SRR=165;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon61:c.A15763G:p.K5255E,TTN:NM_133432:exon62:c.A16138G:p.K5380E,TTN:NM_133437:exon62:c.A16339G:p.K5447E,TTN:NM_133378:exon182:c.A35254G:p.K11752E,TTN:NM_001256850:exon183:c.A38035G:p.K12679E,TTN:NM_001267550:exon233:c.A42958G:p.K14320E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0813;esp6500siv2_ea=0.1098;esp6500siv2_all=0.0813;esp6500siv2_ea=0.1098;1000g2015aug_all=0.0509185;avsnp147=rs6723526;Kaviar_AF=0.082748;Kaviar_AC=12793;Kaviar_AN=154602;ExAC_ALL=0.0830;ExAC_AFR=0.0172;ExAC_AMR=0.0407;ExAC_EAS=0.0070;ExAC_FIN=0.0955;ExAC_NFE=0.1043;ExAC_OTH=0.0835;ExAC_SAS=0.1003;CLNALLELEID=56128;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.135;MutationAssessor_pred=L;FATHMM_score=0.03;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_pred=D;VEST3_score=0.435;CADD_raw=2.465;CADD_phred=19.24;DANN_score=0.939;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=0.1000;dpsi_zscore=0.483;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0826;gnomAD_exome_AFR=0.0165;gnomAD_exome_AMR=0.0422;gnomAD_exome_ASJ=0.0700;gnomAD_exome_EAS=0.0062;gnomAD_exome_FIN=0.1015;gnomAD_exome_NFE=0.1075;gnomAD_exome_OTH=0.0862;gnomAD_exome_SAS=0.1023;gnomAD_genome_ALL=0.0750;gnomAD_genome_AFR=0.0174;gnomAD_genome_AMR=0.0358;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0051;gnomAD_genome_FIN=0.1013;gnomAD_genome_NFE=0.1110;gnomAD_genome_OTH=0.0947;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-790.036,0,-777.365:790:380:398:12031:11821 . 1/1:-4315.74,-458.364,0:1724:23:1666:51435:604 . 0/1:-1220.65,0,-1509.31:1364:713:636:19215:22395 . 0/1:-1314.45,0,-1550.46:1416:740:652:20173:23122 . . . . . . 0/1:-969.778,0,-955.865:967:460:490:14742:14867 . 0/1:-1089.87,0,-1410.62:1220:652:554:16873:20693 . 0/1:-910.361,0,-1051.51:988:505:466:13974:15731 . . 0/1:-1421.39,0,-1818.63:1584:844:718:21940:26907 . . . . . 0/1:-902.081,0,-964.869:898:450:436:13668:14302 0/1:-1083.68,0,-1267.37:1151:586:546:16728:18704 . . . 0/1:-1298.01,0,-1610.33:1429:754:646:20002:23606 0/1:-1172.84,0,-1584.51:1382:745:615:18497:23323 . . . . 0/1:-1529.93,0,-1447.49:1442:691:734:22598:22109 . 0/1:-1054.25,0,-1331.02:1153:607:526:16342:19321 0/1:-1058.29,0,-1427.46:1220:663:543:16665:20850 . . 0/1:-1173.05,0,-1191.04:1193:580:590:17904:18095 . . . . 0/1:-1216.04,0,-1369.46:1301:655:617:18743:20553 . . . . 0/1:-1201.22,0,-1272.7:1198:605:585:18052:19075 . . . 0/1:-892.454,0,-992.283:946:480:458:13816:15089 . 0/1:-1083.31,0,-1133.24:1076:533:533:16288:16904 . . . . . . . . . . . . 0/1:-1286.88,0,-1699.22:1512:797:687:20204:24974 1/1:-3668.64,-398.298,0:1454:13:1417:43236:380 . . 0/1:-947.849,0,-705.851:814:348:454:13966:11027 . 0/1:-1205.88,0,-1604.11:1389:745:619:19181:23424 . 0/1:-1115.3,0,-1141.64:1111:547:544:16742:17178 . . . . . . 0/1:-1494.84,0,-1749.81:1603:818:759:23216:25921 . . 0/1:-1318.49,0,-1403.36:1342:669:652:19925:21114 . . . . . . . . . . . . 0/1:-678.155,0,-988.543:775:434:336:10510:14048:434,336 . . . 0/1:-831.153,0,-1087.91:891:485:396:12608:15686:485,396 1/1:-1934.6,-195.904,0:743:11:727:22739:326:11,727 0/1:-710.6,0,-908.149:761:406:343:10845:13215:406,343 . 1/1:-1773.05,-174.602,0:668:9:648:20710:261:9,648 . chr2 179498236 . G A 13240.00 . AB=0.484211;ABP=6.09608;AC=1;AF=0.5;AN=2;AO=690;CIGAR=1X;DP=1425;DPB=1425;DPRA=0;EPP=9.10301;EPPR=4.94635;GTI=0;LEN=1;MEANALT=3;MQM=39.1043;MQMR=39.5136;NS=1;NUMALT=1;ODDS=3048.62;PAIRED=0.956522;PAIREDR=0.972896;PAO=0;PQA=0;PQR=0;PRO=0;QA=20642;QR=20736;RO=701;RPL=298;RPP=30.8177;RPPR=32.1564;RPR=392;RUN=1;SAF=353;SAP=3.81595;SAR=337;SF=0;SRF=374;SRP=9.85307;SRR=327;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon60:c.C15655T:p.R5219C,TTN:NM_133432:exon61:c.C16030T:p.R5344C,TTN:NM_133437:exon61:c.C16231T:p.R5411C,TTN:NM_133378:exon181:c.C35146T:p.R11716C,TTN:NM_001256850:exon182:c.C37927T:p.R12643C,TTN:NM_001267550:exon232:c.C42850T:p.R14284C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs760157467;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.663e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.006e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.575;MutationAssessor_pred=L;FATHMM_score=1.0;FATHMM_pred=T;PROVEAN_score=-5.32;PROVEAN_pred=D;VEST3_score=0.571;CADD_raw=3.777;CADD_phred=23.4;DANN_score=0.959;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.745;MetaSVM_pred=T;MetaLR_score=0.221;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.222;GDI_full_10282015=.;dpsi_max_tissue=0.0243;dpsi_zscore=0.163;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.631e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.008e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.748e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1335.72,0,-1354.1:1425:701:690:20642:20736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179498247 . T C 10381.30 . AB=0.53128;ABP=11.8404;AC=1;AF=0.5;AN=2;AO=552;CIGAR=1X;DP=1039;DPB=1039;DPRA=0;EPP=65.4637;EPPR=42.0167;GTI=0;LEN=1;MEANALT=3;MQM=38.942;MQMR=39.8633;NS=1;NUMALT=1;ODDS=1845.54;PAIRED=0.96558;PAIREDR=0.963124;PAO=0;PQA=0;PQR=0;PRO=0;QA=16014;QR=12996;RO=461;RPL=255;RPP=9.94957;RPPR=11.7197;RPR=297;RUN=1;SAF=262;SAP=6.09442;SAR=290;SF=0;SRF=230;SRP=3.01501;SRR=231;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon60:c.A15644G:p.D5215G,TTN:NM_133432:exon61:c.A16019G:p.D5340G,TTN:NM_133437:exon61:c.A16220G:p.D5407G,TTN:NM_133378:exon181:c.A35135G:p.D11712G,TTN:NM_001256850:exon182:c.A37916G:p.D12639G,TTN:NM_001267550:exon232:c.A42839G:p.D14280G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs181902304;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.822e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189616;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.028;SIFT_pred=D;Polyphen2_HDIV_score=0.698;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.492;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.445;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-4.55;PROVEAN_pred=D;VEST3_score=0.477;CADD_raw=1.656;CADD_phred=14.16;DANN_score=0.902;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.308;MetaSVM_pred=T;MetaLR_score=0.357;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.82;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=13.430;GDI_full_10282015=.;dpsi_max_tissue=-0.0786;dpsi_zscore=-0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.97e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.908e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.467e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1055.21,0,-815.964:1039:461:552:16014:12996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179498303 . T C 13393.89 . AB=0.456625;ABP=20.1523;AC=6;AF=0.5;AN=10;AO=479;CIGAR=1X;DP=4475;DPB=1049;DPRA=0;EPP=6.31511;EPPR=3.04603;GTI=0;LEN=1;MEANALT=3;MQM=39.3612;MQMR=38.9232;NS=1;NUMALT=1;ODDS=2090.6;PAIRED=0.968685;PAIREDR=0.968921;PAO=0;PQA=0;PQR=0;PRO=0;QA=14439;QR=16970;RO=547;RPL=303;RPP=76.1286;RPPR=141.83;RPR=176;RUN=1;SAF=218;SAP=11.3925;SAR=261;SF=0,1;SRF=254;SRP=9.04834;SRR=293;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon60:c.A15588G:p.K5196K,TTN:NM_133432:exon61:c.A15963G:p.K5321K,TTN:NM_133437:exon61:c.A16164G:p.K5388K,TTN:NM_133378:exon181:c.A35079G:p.K11693K,TTN:NM_001256850:exon182:c.A37860G:p.K12620K,TTN:NM_001267550:exon232:c.A42783G:p.K14261K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0590;esp6500siv2_ea=0.0211;esp6500siv2_all=0.0590;esp6500siv2_ea=0.0211;1000g2015aug_all=0.109425;avsnp147=rs16866425;Kaviar_AF=0.0678969;Kaviar_AC=10497;Kaviar_AN=154602;ExAC_ALL=0.0719;ExAC_AFR=0.1387;ExAC_AMR=0.1969;ExAC_EAS=0.0258;ExAC_FIN=0.0588;ExAC_NFE=0.0247;ExAC_OTH=0.0684;ExAC_SAS=0.1643;CLNALLELEID=56124;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0198;dpsi_zscore=0.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0761;gnomAD_exome_AFR=0.1354;gnomAD_exome_AMR=0.1948;gnomAD_exome_ASJ=0.0265;gnomAD_exome_EAS=0.0271;gnomAD_exome_FIN=0.0574;gnomAD_exome_NFE=0.0241;gnomAD_exome_OTH=0.0608;gnomAD_exome_SAS=0.1635;gnomAD_genome_ALL=0.0633;gnomAD_genome_AFR=0.1349;gnomAD_genome_AMR=0.1695;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0287;gnomAD_genome_FIN=0.0535;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0561;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-925.383,0,-1110:1049:547:479:14439:16970 . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2617.8,-278.636,0:1062:13:1029:31015:409 . . . . . . 0/1:-950.117,0,-1022.88:998:497:482:14619:15338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-751.424,0,-733.755:704:347:350:11133:10819:347,350 0/1:-643.15,0,-766.594:662:354:302:9664:11174:354,302 . . . . . . . . . . . . . . . . . . chr2 179499179 . A G 16992.90 . AB=0.51777;ABP=7.4863;AC=1;AF=0.5;AN=2;AO=845;CIGAR=1X;DP=1632;DPB=1632;DPRA=0;EPP=20.7136;EPPR=31.2112;GTI=0;LEN=1;MEANALT=3;MQM=39.8651;MQMR=39.4571;NS=1;NUMALT=1;ODDS=3573.96;PAIRED=0.944379;PAIREDR=0.94026;PAO=0;PQA=0;PQR=0;PRO=0;QA=26159;QR=24694;RO=770;RPL=231;RPP=379.97;RPPR=356.413;RPR=614;RUN=1;SAF=492;SAP=52.6612;SAR=353;SF=0;SRF=455;SRP=58.2841;SRR=315;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon58:c.T15134C:p.V5045A,TTN:NM_133432:exon59:c.T15509C:p.V5170A,TTN:NM_133437:exon59:c.T15710C:p.V5237A,TTN:NM_133378:exon179:c.T34625C:p.V11542A,TTN:NM_001256850:exon180:c.T37406C:p.V12469A,TTN:NM_001267550:exon230:c.T42329C:p.V14110A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000399361;avsnp147=rs34706299;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=8.699e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0.0011;CLNALLELEID=56120;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.2;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.9;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.145;MutationAssessor_pred=M;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-2.92;PROVEAN_pred=D;VEST3_score=0.529;CADD_raw=3.193;CADD_phred=22.7;DANN_score=0.968;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.067;MetaSVM_pred=T;MetaLR_score=0.456;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=0.3180;dpsi_zscore=0.917;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.964e-05;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1754.24,0,-1606.26:1632:770:845:26159:24694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179499530 . T C 5287.42 . AB=0.419608;ABP=45.9544;AC=1;AF=0.5;AN=2;AO=321;CIGAR=1X;DP=765;DPB=765;DPRA=0;EPP=3.07118;EPPR=31.188;GTI=0;LEN=1;MEANALT=3;MQM=38.785;MQMR=38.9526;NS=1;NUMALT=1;ODDS=1217.47;PAIRED=0.984424;PAIREDR=0.969194;PAO=0;PQA=0;PQR=0;PRO=0;QA=9016;QR=13025;RO=422;RPL=142;RPP=12.2712;RPPR=3.09263;RPR=179;RUN=1;SAF=163;SAP=3.17942;SAR=158;SF=0;SRF=199;SRP=5.97421;SRR=223;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon57:c.A14876G:p.H4959R,TTN:NM_133432:exon58:c.A15251G:p.H5084R,TTN:NM_133437:exon58:c.A15452G:p.H5151R,TTN:NM_133378:exon178:c.A34367G:p.H11456R,TTN:NM_001256850:exon179:c.A37148G:p.H12383R,TTN:NM_001267550:exon229:c.A42071G:p.H14024R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0159;esp6500siv2_ea=0.0205;esp6500siv2_all=0.0159;esp6500siv2_ea=0.0205;1000g2015aug_all=0.0305511;avsnp147=rs2288563;Kaviar_AF=0.0279751;Kaviar_AC=4325;Kaviar_AN=154602;ExAC_ALL=0.0291;ExAC_AFR=0.0037;ExAC_AMR=0.0355;ExAC_EAS=0.1048;ExAC_FIN=0.0528;ExAC_NFE=0.0253;ExAC_OTH=0.0267;ExAC_SAS=0.0068;CLNALLELEID=56117;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.534;SIFT_pred=T;Polyphen2_HDIV_score=0.22;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.983;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=1.39;FATHMM_pred=T;PROVEAN_score=-3.72;PROVEAN_pred=D;VEST3_score=0.333;CADD_raw=1.512;CADD_phred=13.38;DANN_score=0.940;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.143;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.01;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.023;GDI_full_10282015=.;dpsi_max_tissue=0.0093;dpsi_zscore=0.063;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0290;gnomAD_exome_AFR=0.0048;gnomAD_exome_AMR=0.0340;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=0.1023;gnomAD_exome_FIN=0.0488;gnomAD_exome_NFE=0.0232;gnomAD_exome_OTH=0.0266;gnomAD_exome_SAS=0.0065;gnomAD_genome_ALL=0.0253;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0924;gnomAD_genome_FIN=0.0535;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0336;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-540.265,0,-876.258:765:422:321:9016:13025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179500790 . A G 12946.95 . AB=0.497477;ABP=3.08701;AC=2;AF=0.5;AN=4;AO=690;CIGAR=1X;DP=2900;DPB=1387;DPRA=0;EPP=30.8177;EPPR=82.3114;GTI=0;LEN=1;MEANALT=3;MQM=38.3812;MQMR=38.6911;NS=1;NUMALT=1;ODDS=2537.38;PAIRED=0.937681;PAIREDR=0.926677;PAO=0;PQA=0;PQR=0;PRO=0;QA=19667;QR=18007;RO=641;RPL=270;RPP=73.8192;RPPR=116.459;RPR=420;RUN=1;SAF=362;SAP=6.6483;SAR=328;SF=0;SRF=319;SRP=3.04079;SRR=322;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon54:c.T14313C:p.A4771A,TTN:NM_133432:exon55:c.T14688C:p.A4896A,TTN:NM_133437:exon55:c.T14889C:p.A4963A,TTN:NM_133378:exon175:c.T33804C:p.A11268A,TTN:NM_001256850:exon176:c.T36585C:p.A12195A,TTN:NM_001267550:exon226:c.T41508C:p.A13836A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0168;esp6500siv2_ea=0.0220;esp6500siv2_all=0.0168;esp6500siv2_ea=0.0220;1000g2015aug_all=0.0365415;avsnp147=rs55847232;Kaviar_AF=0.031455;Kaviar_AC=4863;Kaviar_AN=154602;ExAC_ALL=0.0334;ExAC_AFR=0.0039;ExAC_AMR=0.0367;ExAC_EAS=0.1047;ExAC_FIN=0.0528;ExAC_NFE=0.0270;ExAC_OTH=0.0279;ExAC_SAS=0.0305;CLNALLELEID=56111;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1439;dpsi_zscore=0.602;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0328;gnomAD_exome_AFR=0.0051;gnomAD_exome_AMR=0.0348;gnomAD_exome_ASJ=0.0156;gnomAD_exome_EAS=0.1026;gnomAD_exome_FIN=0.0489;gnomAD_exome_NFE=0.0249;gnomAD_exome_OTH=0.0292;gnomAD_exome_SAS=0.0285;gnomAD_genome_ALL=0.0262;gnomAD_genome_AFR=0.0050;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0909;gnomAD_genome_FIN=0.0533;gnomAD_genome_NFE=0.0247;gnomAD_genome_OTH=0.0346;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1255.78,0,-1130.01:1387:641:690:19667:18007 . . . . . . . . . . . . . . . . . . . 0/1:-1370.73,0,-1301.09:1513:704:751:21478:20459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179501351 . G A 3912.82 . AB=0.537585;ABP=8.39694;AC=1;AF=0.5;AN=2;AO=236;CIGAR=1X;DP=439;DPB=439;DPRA=0;EPP=24.2098;EPPR=6.876;GTI=0;LEN=1;MEANALT=3;MQM=38.8941;MQMR=39.0275;NS=1;NUMALT=1;ODDS=739.045;PAIRED=0.987288;PAIREDR=0.978022;PAO=0;PQA=0;PQR=0;PRO=0;QA=6301;QR=5389;RO=182;RPL=162;RPP=74.264;RPPR=40.4264;RPR=74;RUN=1;SAF=136;SAP=14.935;SAR=100;SF=0;SRF=89;SRP=3.2012;SRR=93;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon53:c.C13908T:p.G4636G,TTN:NM_133432:exon54:c.C14283T:p.G4761G,TTN:NM_133437:exon54:c.C14484T:p.G4828G,TTN:NM_133378:exon174:c.C33399T:p.G11133G,TTN:NM_001256850:exon175:c.C36180T:p.G12060G,TTN:NM_001267550:exon225:c.C41103T:p.G13701G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0043;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0043;1000g2015aug_all=0.00119808;avsnp147=rs72650077;Kaviar_AF=0.0032276;Kaviar_AC=499;Kaviar_AN=154602;ExAC_ALL=0.0035;ExAC_AFR=0.0002;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0.0026;ExAC_NFE=0.0050;ExAC_OTH=0.0067;ExAC_SAS=0.0007;CLNALLELEID=56108;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0791;dpsi_zscore=0.414;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0030;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0032;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0044;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0027;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-410.647,0,-333.759:439:182:236:6301:5389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179504546 . T C 6317.13 . AB=0.433589;ABP=37.9088;AC=2;AF=0.5;AN=4;AO=395;CIGAR=1X;DP=1413;DPB=911;DPRA=0;EPP=33.9332;EPPR=52.2012;GTI=0;LEN=1;MEANALT=3;MQM=40.4152;MQMR=40.0847;NS=1;NUMALT=1;ODDS=1542.25;PAIRED=0.98481;PAIREDR=0.983871;PAO=0;PQA=0;PQR=0;PRO=0;QA=11022;QR=14519;RO=496;RPL=156;RPP=40.8819;RPPR=50.3624;RPR=239;RUN=1;SAF=232;SAP=29.1834;SAR=163;SF=0,1;SRF=287;SRP=29.6459;SRR=209;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000199681;avsnp147=rs72650073;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3868;dpsi_zscore=-0.968;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-689.573,0,-975.845:911:496:395:11022:14519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-460.274,0,-543.105:502:257:235:7122:8004:257,235 . . . . . . chr2 179505367 . AAGATTA AA 1486.61 . AB=0.423077;ABP=17.7095;AC=2;AF=0.5;AN=4;AO=121;CIGAR=1M5D1M;DP=564;DPB=204.286;DPRA=0;EPP=7.04816;EPPR=3.73412;GTI=0;LEN=5;MEANALT=11;MQM=36.9421;MQMR=40.7143;NS=1;NUMALT=1;ODDS=350.622;PAIRED=0.966942;PAIREDR=0.986395;PAO=2.5;PQA=50.5;PQR=225.5;PRO=8.5;QA=2858;QR=4531;RO=147;RPL=65;RPP=4.46393;RPPR=8.34296;RPR=56;RUN=1;SAF=61;SAP=3.02825;SAR=60;SF=0;SRF=73;SRP=3.02507;SRR=74;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-160.101,0,-327.027:286:147:121:2858:4531 . . . . . . . . . . . . . . . . . . . . . 0/1:-153.062,0,-310.303:278:144:121:2692:4421 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179511767 . GTATATATATATATATATATATAC GTATATATATATATATATATAC 990.02 . AB=0;ABP=0;AC=12;AF=1;AN=12;AO=116;CIGAR=1M2D21M;DP=1533;DPB=448.083;DPRA=0;EPP=6.67934;EPPR=7.90335;GTI=0;LEN=2;MEANALT=38;MQM=40.2845;MQMR=40.8133;NS=1;NUMALT=1;ODDS=136.642;PAIRED=0.991379;PAIREDR=0.986667;PAO=180;PQA=5286;PQR=5017;PRO=173;QA=2587;QR=2227;RO=75;RPL=74;RPP=22.1792;RPPR=51.6802;RPR=42;RUN=1;SAF=69;SAP=12.0706;SAR=47;SF=0;SRF=41;SRP=4.429;SRR=34;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs10580462;Kaviar_AF=0.0096053;Kaviar_AC=1485;Kaviar_AN=154602;ExAC_ALL=0.4390;ExAC_AFR=0.4788;ExAC_AMR=0.4583;ExAC_EAS=0.4327;ExAC_FIN=0.4477;ExAC_NFE=0.4121;ExAC_OTH=0.4688;ExAC_SAS=0.4571;CLNALLELEID=189624;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3925;gnomAD_exome_AFR=0.4650;gnomAD_exome_AMR=0.4521;gnomAD_exome_ASJ=0.3689;gnomAD_exome_EAS=0.3636;gnomAD_exome_FIN=0.3772;gnomAD_exome_NFE=0.4119;gnomAD_exome_OTH=0.3895;gnomAD_exome_SAS=0.4130;gnomAD_genome_ALL=0.1605;gnomAD_genome_AFR=0.3860;gnomAD_genome_AMR=0.2510;gnomAD_genome_ASJ=0.0675;gnomAD_genome_EAS=0.0360;gnomAD_genome_FIN=0.1679;gnomAD_genome_NFE=0.0410;gnomAD_genome_OTH=0.1132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 1/1:-57.1253,-54.6503,0:308:75:116:2587:2227 . . . . 1/1:-40.045,-34.2606,0:294:69:109:2554:2139 . . . . . . . . . . . . . . . . . . . . . . 1/1:-25.896,-20.5795,0:83:13:23:540:394 . 1/1:-348.723,-156.497,0:287:19:138:3600:601 . . . . . 1/1:-11.4656,-37.1194,0:178:44:60:1305:1337 1/1:-113.244,-106.961,0:383:49:117:2611:1517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179514420 . G A 9716.40 . AB=0.470643;ABP=11.0425;AC=1;AF=0.5;AN=2;AO=505;CIGAR=1X;DP=1073;DPB=1073;DPRA=0;EPP=59.8771;EPPR=48.5644;GTI=0;LEN=1;MEANALT=3;MQM=39.1287;MQMR=40.6655;NS=1;NUMALT=1;ODDS=2237.28;PAIRED=0.974257;PAIREDR=0.976619;PAO=0;PQA=0;PQR=0;PRO=0;QA=15704;QR=17538;RO=556;RPL=366;RPP=224.582;RPPR=181.868;RPR=139;RUN=1;SAF=226;SAP=15.0888;SAR=279;SF=0;SRF=223;SRP=50.2672;SRR=333;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0305511;avsnp147=rs1366677;Kaviar_AF=0.024781;Kaviar_AC=645;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6280;dpsi_zscore=-1.769;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0250;gnomAD_genome_AFR=0.0046;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0894;gnomAD_genome_FIN=0.0531;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-1009.99,0,-1197.66:1073:556:505:15704:17538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179514941 . TTTTCCTCTTCAGGAGCAAT TT 100.85 . AB=0.372449;ABP=30.7077;AC=1;AF=0.5;AN=2;AO=73;CIGAR=1M18D1M;DP=196;DPB=144.4;DPRA=0;EPP=3.04005;EPPR=14.9534;GTI=0;LEN=18;MEANALT=31;MQM=16.5753;MQMR=39.7955;NS=1;NUMALT=1;ODDS=23.2214;PAIRED=1;PAIREDR=0.977273;PAO=1;PQA=28.5;PQR=776.5;PRO=27;QA=1330;QR=2734;RO=88;RPL=22;RPP=28.0269;RPPR=3.89863;RPR=51;RUN=1;SAF=24;SAP=21.6017;SAR=49;SF=0;SRF=40;SRP=4.58955;SRR=48;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TTN:NM_133378:exon164:c.32446_32463del:p.10816_10821del,TTN:NM_001256850:exon165:c.35227_35244del:p.11743_11748del,TTN:NM_001267550:exon210:c.39748_39765del:p.13250_13255del;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-20.3923,0,-239.819:196:88:73:1330:2734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179515437 . T G 3357.17 . AB=0.432;ABP=23.0921;AC=1;AF=0.5;AN=2;AO=216;CIGAR=1X;DP=500;DPB=500;DPRA=0;EPP=5.5839;EPPR=3.66416;GTI=0;LEN=1;MEANALT=3;MQM=39.3009;MQMR=39.8922;NS=1;NUMALT=1;ODDS=773.017;PAIRED=0.976852;PAIREDR=0.996283;PAO=0;PQA=0;PQR=0;PRO=0;QA=5697;QR=7370;RO=269;RPL=126;RPP=16.0391;RPPR=29.2375;RPR=90;RUN=1;SAF=128;SAP=19.0953;SAR=88;SF=0;SRF=166;SRP=35.0496;SRR=103;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0153;esp6500siv2_ea=0.0198;esp6500siv2_all=0.0153;esp6500siv2_ea=0.0198;1000g2015aug_all=0.0307508;avsnp147=rs2742355;Kaviar_AF=0.0230721;Kaviar_AC=3567;Kaviar_AN=154602;ExAC_ALL=0.0355;ExAC_AFR=0.0044;ExAC_AMR=0.0575;ExAC_EAS=0.1388;ExAC_FIN=0.0690;ExAC_NFE=0.0321;ExAC_OTH=0.0359;ExAC_SAS=0.0083;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4060;dpsi_zscore=-0.991;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0292;gnomAD_exome_AFR=0.0052;gnomAD_exome_AMR=0.0335;gnomAD_exome_ASJ=0.0151;gnomAD_exome_EAS=0.1017;gnomAD_exome_FIN=0.0489;gnomAD_exome_NFE=0.0220;gnomAD_exome_OTH=0.0299;gnomAD_exome_SAS=0.0066;gnomAD_genome_ALL=0.0251;gnomAD_genome_AFR=0.0046;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0879;gnomAD_genome_FIN=0.0535;gnomAD_genome_NFE=0.0230;gnomAD_genome_OTH=0.0337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-347.383,0,-482.264:500:269:216:5697:7370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179515472 . G A 4214.16 . AB=0.489022;ABP=3.53475;AC=3;AF=0.5;AN=6;AO=245;CIGAR=1X;DP=1419;DPB=501;DPRA=0;EPP=11.5278;EPPR=23.0226;GTI=0;LEN=1;MEANALT=3;MQM=39.2082;MQMR=38.78;NS=1;NUMALT=1;ODDS=1012.23;PAIRED=0.95102;PAIREDR=0.924;PAO=0;PQA=0;PQR=0;PRO=0;QA=7042;QR=7748;RO=250;RPL=85;RPP=52.8655;RPPR=34.2795;RPR=160;RUN=1;SAF=133;SAP=6.91895;SAR=112;SF=0;SRF=126;SRP=3.04504;SRR=124;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0091;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0091;1000g2015aug_all=0.00159744;avsnp147=rs72650067;Kaviar_AF=0.0054398;Kaviar_AC=841;Kaviar_AN=154602;ExAC_ALL=0.0103;ExAC_AFR=0.0019;ExAC_AMR=0.0036;ExAC_EAS=0.0003;ExAC_FIN=0.0097;ExAC_NFE=0.0169;ExAC_OTH=0.0148;ExAC_SAS=0.0018;CLNALLELEID=56095;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.7990;dpsi_zscore=2.559;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0095;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0052;gnomAD_exome_NFE=0.0086;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0064;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0096;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-453.228,0,-499.592:501:250:245:7042:7748 . . . . . . . . . . . . . . . . . 0/1:-713.788,0,-868.866:808:419:380:11212:12930 . 0/1:-139.052,0,-66.185:110:41:66:2009:1144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179515483 . G C 5501.20 . AB=0.478849;ABP=5.3067;AC=1;AF=0.5;AN=2;AO=283;CIGAR=1X;DP=591;DPB=591;DPRA=0;EPP=9.46333;EPPR=7.54933;GTI=0;LEN=1;MEANALT=3;MQM=40.5442;MQMR=40.495;NS=1;NUMALT=1;ODDS=1266.7;PAIRED=0.946996;PAIREDR=0.959866;PAO=0;PQA=0;PQR=0;PRO=0;QA=8718;QR=9380;RO=299;RPL=56;RPP=227.378;RPPR=131.476;RPR=227;RUN=1;SAF=149;SAP=4.73674;SAR=134;SF=1;SRF=179;SRP=28.2909;SRR=120;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon163:c.C32402G:p.P10801R,TTN:NM_001256850:exon164:c.C35183G:p.P11728R,TTN:NM_001267550:exon209:c.C39704G:p.P13235R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0034;1000g2015aug_all=0.0393371;avsnp147=rs72650066;Kaviar_AF=0.0160865;Kaviar_AC=2487;Kaviar_AN=154602;ExAC_ALL=0.0306;ExAC_AFR=0.0011;ExAC_AMR=0.0060;ExAC_EAS=0.1733;ExAC_FIN=0.0345;ExAC_NFE=0.0093;ExAC_OTH=0.0292;ExAC_SAS=0.0519;CLNALLELEID=56094;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.22;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.03;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.283;CADD_raw=0.743;CADD_phred=9.108;DANN_score=0.904;fathmm-MKL_coding_score=0.346;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.086;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.08;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.659;phastCons20way_mammalian=0.093;SiPhy_29way_logOdds=11.644;GDI_full_10282015=.;dpsi_max_tissue=5.6803;dpsi_zscore=2.683;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0184;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0196;gnomAD_exome_EAS=0.1223;gnomAD_exome_FIN=0.0227;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0156;gnomAD_exome_SAS=0.0379;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.1211;gnomAD_genome_FIN=0.0258;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-582.439,0,-636.629:591:299:283:8718:9380:299,283 . . . . . . . . . . . . . . . . . . chr2 179515576 . A G 6317.01 . AB=0.451295;ABP=19.7207;AC=1;AF=0.5;AN=2;AO=366;CIGAR=1X;DP=811;DPB=811;DPRA=0;EPP=106.387;EPPR=86.5253;GTI=0;LEN=1;MEANALT=3;MQM=39.3142;MQMR=39.8944;NS=1;NUMALT=1;ODDS=1454.55;PAIRED=0.948087;PAIREDR=0.969484;PAO=0;PQA=0;PQR=0;PRO=0;QA=10361;QR=13104;RO=426;RPL=182;RPP=3.03403;RPPR=3.52004;RPR=184;RUN=1;SAF=139;SAP=48.9553;SAR=227;SF=0;SRF=159;SRP=62.4658;SRR=267;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2615;dpsi_zscore=-1.609;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-655.549,0,-887.065:811:426:366:10361:13104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179516147 . C T 4524.52 . AB=0.407813;ABP=50.2534;AC=1;AF=0.5;AN=2;AO=261;CIGAR=1X;DP=640;DPB=640;DPRA=0;EPP=98.2639;EPPR=88.4215;GTI=0;LEN=1;MEANALT=3;MQM=37.092;MQMR=37.4492;NS=1;NUMALT=1;ODDS=1041.81;PAIRED=0.938697;PAIREDR=0.951977;PAO=0;PQA=0;PQR=0;PRO=0;QA=7918;QR=11008;RO=354;RPL=122;RPP=5.41473;RPPR=4.99775;RPR=139;RUN=1;SAF=122;SAP=5.41473;SAR=139;SF=0;SRF=166;SRP=5.97921;SRR=188;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs371905936;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0003;ExAC_AMR=8.806e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5997;dpsi_zscore=1.228;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=3.142e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-472.7,0,-724.245:640:354:261:7918:11008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179516580 . G C 6204.58 . AB=0.483721;ABP=4.98987;AC=4;AF=0.5;AN=8;AO=416;CIGAR=1X;DP=3174;DPB=860;DPRA=0;EPP=17.1249;EPPR=9.15361;GTI=0;LEN=1;MEANALT=3;MQM=36.3293;MQMR=36.1455;NS=1;NUMALT=1;ODDS=1588.62;PAIRED=0.939904;PAIREDR=0.921478;PAO=0;PQA=0;PQR=0;PRO=0;QA=11837;QR=13852;RO=433;RPL=234;RPP=17.1249;RPPR=3.13567;RPR=182;RUN=1;SAF=136;SAP=111.25;SAR=280;SF=0;SRF=166;SRP=54.1678;SRR=267;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0165;esp6500siv2_ea=0.0231;esp6500siv2_all=0.0165;esp6500siv2_ea=0.0231;1000g2015aug_all=0.00838658;avsnp147=rs72650063;Kaviar_AF=0.0199092;Kaviar_AC=3078;Kaviar_AN=154602;ExAC_ALL=0.0260;ExAC_AFR=0.0032;ExAC_AMR=0.0123;ExAC_EAS=0.0002;ExAC_FIN=0.0439;ExAC_NFE=0.0298;ExAC_OTH=0.0231;ExAC_SAS=0.0365;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=5.8489;dpsi_zscore=2.705;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0230;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0092;gnomAD_exome_ASJ=0.0723;gnomAD_exome_EAS=6.567e-05;gnomAD_exome_FIN=0.0431;gnomAD_exome_NFE=0.0211;gnomAD_exome_OTH=0.0255;gnomAD_exome_SAS=0.0346;gnomAD_genome_ALL=0.0182;gnomAD_genome_AFR=0.0032;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0442;gnomAD_genome_NFE=0.0218;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-711.635,0,-837.51:860:433:416:11837:13852 . . . . . . . . . . . 0/1:-524.036,0,-582.818:641:316:319:9164:9901 . . . . . . . 0/1:-490.079,0,-635.914:687:358:317:8984:10830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-825.227,0,-906.508:986:478:498:14239:15062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179516583 . G T 12540.30 . AB=0.467547;ABP=18.9365;AC=1;AF=0.5;AN=2;AO=814;CIGAR=1X;DP=1741;DPB=1741;DPRA=0;EPP=4.54687;EPPR=20.2698;GTI=0;LEN=1;MEANALT=3;MQM=36.5651;MQMR=37.1936;NS=1;NUMALT=1;ODDS=2887.52;PAIRED=0.954545;PAIREDR=0.921892;PAO=0;PQA=0;PQR=0;PRO=0;QA=22059;QR=28238;RO=909;RPL=425;RPP=6.46758;RPPR=8.28729;RPR=389;RUN=1;SAF=356;SAP=30.7646;SAR=458;SF=0;SRF=376;SRP=61.8933;SRR=533;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs371373940;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0003;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.1668;dpsi_zscore=-2.519;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.701e-05;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1266.83,0,-1780.55:1741:909:814:22059:28238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179516680 . C G 6513.14 . AB=0.523385;ABP=7.27586;AC=1;AF=0.5;AN=2;AO=470;CIGAR=1X;DP=898;DPB=898;DPRA=0;EPP=17.4991;EPPR=25.2245;GTI=0;LEN=1;MEANALT=3;MQM=31.2319;MQMR=32.8644;NS=1;NUMALT=1;ODDS=1450.77;PAIRED=0.895745;PAIREDR=0.932203;PAO=0;PQA=0;PQR=0;PRO=0;QA=13206;QR=12497;RO=413;RPL=279;RPP=38.7888;RPPR=9.45111;RPR=191;RUN=1;SAF=274;SAP=31.1193;SAR=196;SF=0;SRF=253;SRP=48.485;SRR=160;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon159:c.G32008C:p.E10670Q,TTN:NM_001256850:exon160:c.G34789C:p.E11597Q,TTN:NM_001267550:exon205:c.G39310C:p.E13104Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.392;SIFT_pred=T;Polyphen2_HDIV_score=0.608;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.154;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=-0.13;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_pred=N;VEST3_score=0.168;CADD_raw=2.264;CADD_phred=17.93;DANN_score=0.906;fathmm-MKL_coding_score=0.307;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.761;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_pred=T;integrated_fitCons_score=0.534;integrated_confidence_value=0;GERP++_RS=5.31;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.789;phastCons20way_mammalian=0.962;SiPhy_29way_logOdds=10.300;GDI_full_10282015=.;dpsi_max_tissue=-9.0083;dpsi_zscore=-2.853;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-667.845,0,-646.096:898:413:470:13206:12497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179516712 . C A 4584.81 . AB=0.444683;ABP=27.7548;AC=1;AF=0.5;AN=2;AO=414;CIGAR=1X;DP=931;DPB=931;DPRA=0;EPP=5.54893;EPPR=11.8936;GTI=0;LEN=1;MEANALT=3;MQM=29.0942;MQMR=32.1172;NS=1;NUMALT=1;ODDS=1055.69;PAIRED=0.975845;PAIREDR=0.967677;PAO=0;PQA=0;PQR=0;PRO=0;QA=11504;QR=14264;RO=495;RPL=176;RPP=23.1725;RPPR=53.2349;RPR=238;RUN=1;SAF=282;SAP=121.025;SAR=132;SF=0;SRF=320;SRP=95.243;SRR=175;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs748134833;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=5.918e-05;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.787e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=366070;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.5559;dpsi_zscore=2.524;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . 0/1:-482.163,0,-745.067:931:495:414:11504:14264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179517159 . T A 1824.86 . AB=0.46087;ABP=10.6577;AC=1;AF=0.5;AN=2;AO=265;CIGAR=1X;DP=575;DPB=575;DPRA=0;EPP=33.5011;EPPR=119.954;GTI=0;LEN=1;MEANALT=2;MQM=16.6;MQMR=19.0421;NS=1;NUMALT=1;ODDS=420.19;PAIRED=0.969811;PAIREDR=0.97411;PAO=0;PQA=0;PQR=0;PRO=0;QA=8131;QR=9874;RO=309;RPL=171;RPP=51.5939;RPPR=32.7011;RPR=94;RUN=1;SAF=122;SAP=6.62396;SAR=143;SF=0;SRF=146;SRP=5.04122;SRR=163;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0013;1000g2015aug_all=0.00219649;avsnp147=rs183059602;Kaviar_AF=0.0016171;Kaviar_AC=250;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0003;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0033;ExAC_NFE=0.0012;ExAC_OTH=0.0033;ExAC_SAS=0.0061;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.6320;dpsi_zscore=2.363;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-198.961,0,-319.59:575:309:265:8131:9874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179517213 . A G 2432.55 . AB=0.366864;ABP=133.106;AC=1;AF=0.5;AN=2;AO=310;CIGAR=1X;DP=845;DPB=845;DPRA=0;EPP=11.1078;EPPR=59.4638;GTI=0;LEN=1;MEANALT=3;MQM=20.0903;MQMR=20.1444;NS=1;NUMALT=1;ODDS=560.115;PAIRED=0.96129;PAIREDR=0.923414;PAO=0;PQA=0;PQR=0;PRO=0;QA=9031;QR=13775;RO=457;RPL=131;RPP=19.1492;RPPR=34.1854;RPR=179;RUN=1;SAF=201;SAP=62.2985;SAR=109;SF=1;SRF=252;SRP=13.5065;SRR=205;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon156:c.T31797C:p.P10599P,TTN:NM_001256850:exon157:c.T34578C:p.P11526P,TTN:NM_001267550:exon202:c.T39099C:p.P13033P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs755793186;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.679e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.057e-05;ExAC_OTH=0;ExAC_SAS=0.0007;CLNALLELEID=449897;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.8460;dpsi_zscore=2.200;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.597e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-265.398,0,-491.277:845:457:310:9031:13775:457,310 . . . . . . . . . . . . . . chr2 179517223 . G A 2258.25 . AB=0.504505;ABP=3.12768;AC=1;AF=0.5;AN=2;AO=336;CIGAR=1X;DP=666;DPB=666;DPRA=0;EPP=50.8085;EPPR=58.4481;GTI=0;LEN=1;MEANALT=3;MQM=16.125;MQMR=19.7668;NS=1;NUMALT=1;ODDS=519.98;PAIRED=0.967262;PAIREDR=0.936396;PAO=0;PQA=0;PQR=0;PRO=0;QA=9054;QR=7949;RO=283;RPL=125;RPP=50.8085;RPPR=15.9087;RPR=211;RUN=1;SAF=194;SAP=20.4855;SAR=142;SF=0;SRF=166;SRP=21.4333;SRR=117;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon156:c.C31787T:p.A10596V,TTN:NM_001256850:exon157:c.C34568T:p.A11523V,TTN:NM_001267550:exon202:c.C39089T:p.A13030V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747459623;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.341e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=449899;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.311;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.1;FATHMM_pred=T;PROVEAN_score=0.6;PROVEAN_pred=N;VEST3_score=0.082;CADD_raw=0.259;CADD_phred=5.291;DANN_score=0.772;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.003;MetaSVM_pred=T;MetaLR_score=0.119;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-1.86;phyloP7way_vertebrate=-0.444;phyloP20way_mammalian=-1.449;phastCons7way_vertebrate=0.233;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=5.480;GDI_full_10282015=.;dpsi_max_tissue=-2.9176;dpsi_zscore=-2.135;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.631e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=8.973e-05;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-245.775,0,-246.382:666:283:336:9054:7949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179517605 . G A 1517.99 . AB=0.4;ABP=55.1256;AC=3;AF=0.5;AN=6;AO=240;CIGAR=1X;DP=1569;DPB=600;DPRA=0;EPP=3.33602;EPPR=8.6642;GTI=0;LEN=1;MEANALT=3;MQM=18.3583;MQMR=17.3498;NS=1;NUMALT=1;ODDS=359.149;PAIRED=0.904167;PAIREDR=0.950464;PAO=0;PQA=0;PQR=0;PRO=0;QA=6591;QR=9900;RO=323;RPL=129;RPP=5.94179;RPPR=12.2138;RPR=111;RUN=1;SAF=130;SAP=6.62942;SAR=110;SF=0,1;SRF=162;SRP=3.01702;SRR=161;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon200:c.C38929T:p.P12977S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;1000g2015aug_all=0.00638978;avsnp147=rs150223722;Kaviar_AF=0.0058925;Kaviar_AC=911;Kaviar_AN=154602;ExAC_ALL=0.0065;ExAC_AFR=0.0014;ExAC_AMR=0.0013;ExAC_EAS=0.0001;ExAC_FIN=0.0011;ExAC_NFE=0.0055;ExAC_OTH=0.0057;ExAC_SAS=0.0225;CLNALLELEID=238500;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.31;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.102;CADD_raw=1.597;CADD_phred=13.83;DANN_score=0.567;fathmm-MKL_coding_score=0.182;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=3.93;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.933;phastCons7way_vertebrate=0.415;phastCons20way_mammalian=0.195;SiPhy_29way_logOdds=9.634;GDI_full_10282015=.;dpsi_max_tissue=2.1805;dpsi_zscore=2.024;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0060;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0057;gnomAD_exome_OTH=0.0058;gnomAD_exome_SAS=0.0226;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0059;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . 0/1:-166.663,0,-282.522:600:323:240:6591:9900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-175.479,0,-189.3:523:249:238:6578:7343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-119.522,0,-249.971:446:250:166:4535:7926:250,166 . . . . . chr2 179517654 . T C 2550.91 . AB=0.459627;ABP=12.1278;AC=2;AF=0.5;AN=4;AO=296;CIGAR=1X;DP=1292;DPB=644;DPRA=0;EPP=3.74391;EPPR=63.4687;GTI=0;LEN=1;MEANALT=3;MQM=19.0034;MQMR=18.9178;NS=1;NUMALT=1;ODDS=563.219;PAIRED=0.942568;PAIREDR=0.957237;PAO=0;PQA=0;PQR=0;PRO=0;QA=8215;QR=9241;RO=304;RPL=93;RPP=91.7766;RPPR=32.268;RPR=203;RUN=1;SAF=162;SAP=8.76177;SAR=134;SF=0;SRF=166;SRP=8.61041;SRR=138;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon200:c.A38880G:p.P12960P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0365415;avsnp147=rs2742354;Kaviar_AF=0.030226;Kaviar_AC=4673;Kaviar_AN=154602;ExAC_ALL=0.0338;ExAC_AFR=0.0038;ExAC_AMR=0.0367;ExAC_EAS=0.1026;ExAC_FIN=0.0529;ExAC_NFE=0.0273;ExAC_OTH=0.0283;ExAC_SAS=0.0301;CLNALLELEID=391958;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.5102;dpsi_zscore=2.790;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0328;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0347;gnomAD_exome_ASJ=0.0154;gnomAD_exome_EAS=0.1005;gnomAD_exome_FIN=0.0490;gnomAD_exome_NFE=0.0250;gnomAD_exome_OTH=0.0302;gnomAD_exome_SAS=0.0285;gnomAD_genome_ALL=0.0262;gnomAD_genome_AFR=0.0050;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0894;gnomAD_genome_FIN=0.0543;gnomAD_genome_NFE=0.0247;gnomAD_genome_OTH=0.0337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . 0/1:-261.824,0,-276.136:644:304:296:8215:9241 . . . . . . . . . . . . . . . . . . . 0/1:-278.551,0,-230.179:648:290:309:8724:8904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179518003 . A G 1499.68 . AB=0.436816;ABP=37.8597;AC=9;AF=0.5;AN=16;AO=439;CIGAR=1X;DP=5517;DPB=1005;DPRA=0;EPP=25.2147;EPPR=13.5719;GTI=0;LEN=1;MEANALT=3;MQM=15.9203;MQMR=20.9027;NS=1;NUMALT=1;ODDS=347.078;PAIRED=0.972665;PAIREDR=0.947471;PAO=0;PQA=0;PQR=0;PRO=0;QA=11516;QR=15672;RO=514;RPL=150;RPP=98.5798;RPPR=168.634;RPR=289;RUN=1;SAF=248;SAP=19.0812;SAR=191;SF=0,1;SRF=298;SRP=31.4169;SRR=216;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon198:c.T38753C:p.L12918S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.117013;avsnp147=rs2562847;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;ExAC_ALL=0.0986;ExAC_AFR=0.0446;ExAC_AMR=0.2285;ExAC_EAS=0.1284;ExAC_FIN=0.1111;ExAC_NFE=0.0527;ExAC_OTH=0.0933;ExAC_SAS=0.1974;CLNALLELEID=517427;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.19;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.055;CADD_raw=-0.768;CADD_phred=0.050;DANN_score=0.531;fathmm-MKL_coding_score=0.080;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-2.6;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=-1.039;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=7.781;GDI_full_10282015=.;dpsi_max_tissue=3.4441;dpsi_zscore=2.326;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1026;gnomAD_exome_AFR=0.0436;gnomAD_exome_AMR=0.225;gnomAD_exome_ASJ=0.0421;gnomAD_exome_EAS=0.1286;gnomAD_exome_FIN=0.1056;gnomAD_exome_NFE=0.0493;gnomAD_exome_OTH=0.0864;gnomAD_exome_SAS=0.1942;gnomAD_genome_ALL=0.0615;gnomAD_genome_AFR=0.0438;gnomAD_genome_AMR=0.1812;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.1177;gnomAD_genome_FIN=0.1061;gnomAD_genome_NFE=0.0473;gnomAD_genome_OTH=0.0861;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-173.395,0,-507.268:1005:514:439:11516:15672 . . . . . . . . . . . . . . 0/1:-83.5799,0,-339.803:615:392:196:4847:11864 . . . . 0/1:-225.758,0,-429.882:1143:510:570:15930:15853 . . . . . . . . . . . . . . . . . 0/1:-16.4901,0,-116.493:213:116:89:2340:3490 . 1/1:-399.334,-77.0604,0:362:27:304:7779:648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-121.273,0,-510.637:771:481:253:6559:14548 . 0/1:-188.389,0,-443.282:609:376:221:6333:11774:376,221 0/1:-227.224,0,-572.182:799:496:281:7958:15553:496,281 . . . . . . . . . . . . . . . . . . chr2 179518077 . A G 1656.48 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=172;CIGAR=1X;DP=221;DPB=221;DPRA=0;EPP=64.872;EPPR=24.391;GTI=0;LEN=1;MEANALT=3;MQM=17.3895;MQMR=8.61538;NS=1;NUMALT=1;ODDS=177.567;PAIRED=0.988372;PAIREDR=0.961538;PAO=0;PQA=0;PQR=0;PRO=0;QA=5217;QR=611;RO=26;RPL=135;RPP=124.259;RPPR=8.35546;RPR=37;RUN=1;SAF=18;SAP=236.519;SAR=154;SF=0;SRF=18;SRP=11.3621;SRR=8;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs13420457;Kaviar_AF=0.0031371;Kaviar_AC=485;Kaviar_AN=154602;ExAC_ALL=0.0613;ExAC_AFR=0.0375;ExAC_AMR=0.1808;ExAC_EAS=0.0238;ExAC_FIN=0.0576;ExAC_NFE=0.0243;ExAC_OTH=0.0626;ExAC_SAS=0.1577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.8402;dpsi_zscore=-2.320;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0493;gnomAD_exome_AFR=0.0291;gnomAD_exome_AMR=0.1463;gnomAD_exome_ASJ=0.0162;gnomAD_exome_EAS=0.0196;gnomAD_exome_FIN=0.0348;gnomAD_exome_NFE=0.0177;gnomAD_exome_OTH=0.0389;gnomAD_exome_SAS=0.1213;gnomAD_genome_ALL=0.0294;gnomAD_genome_AFR=0.0304;gnomAD_genome_AMR=0.1423;gnomAD_genome_ASJ=0.0168;gnomAD_genome_EAS=0.0259;gnomAD_genome_FIN=0.0462;gnomAD_genome_NFE=0.0184;gnomAD_genome_OTH=0.0465;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-208.982,-41.901,0:221:26:172:5217:611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179518889 . G A 767.17 . AB=0.484564;ABP=4.55219;AC=1;AF=0.5;AN=2;AO=361;CIGAR=1X;DP=745;DPB=745;DPRA=0;EPP=52.8218;EPPR=337.252;GTI=0;LEN=1;MEANALT=3;MQM=9.75346;MQMR=11.5788;NS=1;NUMALT=1;ODDS=176.646;PAIRED=0.963989;PAIREDR=0.970109;PAO=0;PQA=0;PQR=0;PRO=0;QA=11363;QR=11741;RO=368;RPL=155;RPP=18.6557;RPPR=38.9104;RPR=206;RUN=1;SAF=205;SAP=17.4527;SAR=156;SF=0;SRF=216;SRP=27.1797;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs562208395;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.2981;dpsi_zscore=-1.987;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.169e-05;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-92.4232,0,-146.49:745:368:361:11363:11741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179518911 . TAGCA TA 4007.25 . AB=0;ABP=0;AC=25;AF=1;AN=30;AO=503;CIGAR=1M3D1M;DP=14750;DPB=260;DPRA=0;EPP=195.209;EPPR=3.44459;GTI=0;LEN=3;MEANALT=13;MQM=8.13121;MQMR=13.6;NS=1;NUMALT=1;ODDS=612.687;PAIRED=0.994036;PAIREDR=1;PAO=0.5;PQA=16;PQR=80;PRO=2.5;QA=13447;QR=159;RO=5;RPL=116;RPP=320.058;RPPR=3.44459;RPR=387;RUN=1;SAF=369;SAP=241.419;SAR=134;SF=0,1;SRF=4;SRP=6.91895;SRR=1;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-346.52,-145.049,0:563:5:503:13447:159 . 1/1:-638.92,-279.085,0:990:7:908:24287:237 . . . . . . . . . . 1/1:-193.131,-82.146,0:341:16:288:7587:484 . . . . . . 1/1:-684.146,-288.127,0:1058:13:979:25983:418 . . . . . . . . . . 1/1:-615.052,-267.301,0:937:2:871:23288:57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-601.171,-255.478,0:952:11:865:23103:379 . . . . . . . . . . . . . 1/1:-800.943,-337.467,0:1277:22:1159:30494:705 . . . . . . . . . 0/1:-11.6635,0,-453.177:1053:571:402:10098:18359:571,402 0/1:-56.4302,0,-522.164:1252:632:538:13744:20261:632,538 . . . . 1/1:-758.282,-295.844,0:1082:9:1008:25492:290:9,1008 . 0/1:-40.3209,0,-474.621:1092:572:446:11293:18495:572,446 . 0/1:-88.9378,0,-381.235:1098:495:515:12723:16022:495,515 1/1:-651.648,-245.177,0:992:23:887:22490:723:23,887 0/1:-29.898,0,-459.68:1095:579:435:11137:18713:579,435 . 1/1:-675.268,-261.361,0:968:8:897:22473:233:8,897 . chr2 179518940 . G A 1059.89 . AB=0.505607;ABP=3.27814;AC=1;AF=0.5;AN=2;AO=496;CIGAR=1X;DP=981;DPB=981;DPRA=0;EPP=28.2974;EPPR=13.2818;GTI=0;LEN=1;MEANALT=3;MQM=9.79637;MQMR=11.7602;NS=1;NUMALT=1;ODDS=244.049;PAIRED=0.97379;PAIREDR=0.976445;PAO=0;PQA=0;PQR=0;PRO=0;QA=15567;QR=14525;RO=467;RPL=160;RPP=138.622;RPPR=155.344;RPR=336;RUN=1;SAF=320;SAP=93.7919;SAR=176;SF=0;SRF=306;SRP=100.773;SRR=161;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon193:c.C38375T:p.A12792V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750718327;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.883e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.617e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.31;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.028;CADD_raw=-0.958;CADD_phred=0.019;DANN_score=0.783;fathmm-MKL_coding_score=0.008;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-5.95;phyloP7way_vertebrate=-0.327;phyloP20way_mammalian=-1.512;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=11.245;GDI_full_10282015=.;dpsi_max_tissue=-0.1928;dpsi_zscore=-0.673;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.337e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.411e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-139.663,0,-187.778:981:467:496:15567:14525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179522337 . G A 350.73 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=121;CIGAR=1X;DP=184;DPB=184;DPRA=0;EPP=14.2266;EPPR=49.9141;GTI=0;LEN=1;MEANALT=2;MQM=5.35537;MQMR=1.73333;NS=1;NUMALT=1;ODDS=80.7588;PAIRED=0.933884;PAIREDR=0.883333;PAO=0;PQA=0;PQR=0;PRO=0;QA=3603;QR=1919;RO=60;RPL=116;RPP=224.124;RPPR=73.0765;RPR=5;RUN=1;SAF=43;SAP=24.9942;SAR=78;SF=0;SRF=48;SRP=49.9141;SRR=12;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=Score\x3d0.998123\x3bName\x3dchr2:179523296;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.136581;avsnp147=rs564445960;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;ExAC_ALL=0.0075;ExAC_AFR=0.1117;ExAC_AMR=0.0023;ExAC_EAS=0.0007;ExAC_FIN=0.0002;ExAC_NFE=0.0010;ExAC_OTH=0.0079;ExAC_SAS=0.0086;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.8895;dpsi_zscore=2.412;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0268;gnomAD_exome_AFR=0.2533;gnomAD_exome_AMR=0.0245;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0048;gnomAD_exome_FIN=0.0088;gnomAD_exome_NFE=0.0048;gnomAD_exome_OTH=0.0247;gnomAD_exome_SAS=0.0381;gnomAD_genome_ALL=0.1143;gnomAD_genome_AFR=0.3639;gnomAD_genome_AMR=0.0410;gnomAD_genome_ASJ=0.0260;gnomAD_genome_EAS=0.0070;gnomAD_genome_FIN=0.0121;gnomAD_genome_NFE=0.0086;gnomAD_genome_OTH=0.0310;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-48.3261,-45.2147,0:184:60:121:3603:1919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179523753 . G A 191.97 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=462;CIGAR=1X;DP=1032;DPB=1032;DPRA=0;EPP=4.53315;EPPR=7.78598;GTI=0;LEN=1;MEANALT=3;MQM=2.43723;MQMR=1.65171;NS=1;NUMALT=1;ODDS=44.2033;PAIRED=0.997835;PAIREDR=0.980251;PAO=0;PQA=0;PQR=0;PRO=0;QA=14163;QR=17016;RO=557;RPL=190;RPP=34.6142;RPPR=54.5682;RPR=272;RUN=1;SAF=202;SAP=18.8216;SAR=260;SF=0;SRF=287;SRP=4.13697;SRR=270;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon155:c.C31720T:p.P10574S,TTN:NM_001256850:exon156:c.C34501T:p.P11501S,TTN:NM_001267550:exon182:c.C37432T:p.P12478S;cytoBand=2q31.2;genomicSuperDups=Score\x3d0.998123\x3bName\x3dchr2:179519036;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200992277;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=56080;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_pred=D;Polyphen2_HDIV_score=0.261;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.07;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.305;MutationAssessor_pred=M;FATHMM_score=-0.61;FATHMM_pred=T;PROVEAN_score=-3.52;PROVEAN_pred=D;VEST3_score=0.215;CADD_raw=1.355;CADD_phred=12.56;DANN_score=0.775;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.642;MetaSVM_pred=T;MetaLR_score=0.242;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.01;phyloP7way_vertebrate=-0.461;phyloP20way_mammalian=0.710;phastCons7way_vertebrate=0.019;phastCons20way_mammalian=0.871;SiPhy_29way_logOdds=1.972;GDI_full_10282015=.;dpsi_max_tissue=1.5398;dpsi_zscore=1.796;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0027;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0016;gnomAD_exome_SAS=0.0200;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0120;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0022;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 1/1:-18.2066,-224.782,0:1032:557:462:14163:17016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179526573 . A G 259.29 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=652;CIGAR=1X;DP=1239;DPB=1239;DPRA=0;EPP=10.6837;EPPR=7.47689;GTI=0;LEN=1;MEANALT=3;MQM=6.10583;MQMR=4.86477;NS=1;NUMALT=1;ODDS=59.7038;PAIRED=0.981595;PAIREDR=0.969751;PAO=0;PQA=0;PQR=0;PRO=0;QA=19257;QR=17090;RO=562;RPL=574;RPP=822.361;RPPR=133.824;RPR=78;RUN=1;SAF=270;SAP=44.7878;SAR=382;SF=0;SRF=267;SRP=6.03954;SRR=295;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=Score\x3d0.998123\x3bName\x3dchr2:179519036;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0080;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0080;1000g2015aug_all=.;avsnp147=rs202032281;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;ExAC_ALL=0.0332;ExAC_AFR=0.0038;ExAC_AMR=0.0356;ExAC_EAS=0.0994;ExAC_FIN=0.0517;ExAC_NFE=0.0269;ExAC_OTH=0.0224;ExAC_SAS=0.0304;CLNALLELEID=221128;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.6465;dpsi_zscore=2.365;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0242;gnomAD_exome_AFR=0.0041;gnomAD_exome_AMR=0.0239;gnomAD_exome_ASJ=0.0122;gnomAD_exome_EAS=0.0755;gnomAD_exome_FIN=0.0325;gnomAD_exome_NFE=0.0191;gnomAD_exome_OTH=0.0229;gnomAD_exome_SAS=0.0227;gnomAD_genome_ALL=0.0200;gnomAD_genome_AFR=0.0043;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0263;gnomAD_genome_EAS=0.0718;gnomAD_genome_FIN=0.0430;gnomAD_genome_NFE=0.0187;gnomAD_genome_OTH=0.0217;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 1/1:-109.328,-122.627,0:1239:562:652:19257:17090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179527095 . G A 362.26 . AB=0;ABP=0;AC=8;AF=1;AN=8;AO=448;CIGAR=1X;DP=2681;DPB=892;DPRA=0;EPP=18.2106;EPPR=4.41408;GTI=0;LEN=1;MEANALT=3;MQM=4.88616;MQMR=4.89141;NS=1;NUMALT=1;ODDS=8.8311;PAIRED=0.941964;PAIREDR=0.936869;PAO=0;PQA=0;PQR=0;PRO=0;QA=12997;QR=12127;RO=396;RPL=112;RPP=246.215;RPPR=92.8522;RPR=336;RUN=1;SAF=294;SAP=98.0122;SAR=154;SF=0;SRF=262;SRP=92.8522;SRR=134;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon177:c.C37009T:p.P12337S;cytoBand=2q31.2;genomicSuperDups=Score\x3d0.998123\x3bName\x3dchr2:179519036;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0091853;avsnp147=rs201474544;Kaviar_AF=0.0137967;Kaviar_AC=2133;Kaviar_AN=154602;ExAC_ALL=0.0202;ExAC_AFR=0.0033;ExAC_AMR=0.0028;ExAC_EAS=0;ExAC_FIN=0.0126;ExAC_NFE=0.0267;ExAC_OTH=0.0109;ExAC_SAS=0.0265;CLNALLELEID=221129;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.31;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.048;CADD_raw=0.568;CADD_phred=7.931;DANN_score=0.705;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.31;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.937;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=4.844;GDI_full_10282015=.;dpsi_max_tissue=1.8951;dpsi_zscore=1.934;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0179;gnomAD_exome_AFR=0.0030;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0112;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0106;gnomAD_exome_NFE=0.0262;gnomAD_exome_OTH=0.0143;gnomAD_exome_SAS=0.0255;gnomAD_genome_ALL=0.0120;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0062;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0105;gnomAD_genome_NFE=0.0182;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 1/1:-22.0767,-82.611,0:892:396:448:12997:12127 . . . 1/1:-22.3247,-64.9934,0:585:248:287:8033:7762 . . . 1/1:-7.802,-72.4111,0:763:350:368:10677:10852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-128.234,-109.03,0:441:54:347:9974:1691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179527122 . T C 99.16 . AB=0;ABP=0;AC=6;AF=0;AN=8;AO=50;CIGAR=1X;DP=766;DPB=132;DPRA=0;EPP=3.70517;EPPR=84.9501;GTI=0;LEN=1;MEANALT=3;MQM=2.52;MQMR=2.87755;NS=1;NUMALT=1;ODDS=31.2395;PAIRED=1;PAIREDR=0.653061;PAO=0;PQA=0;PQR=0;PRO=0;QA=908;QR=948;RO=49;RPL=22;RPP=4.57376;RPPR=84.9501;RPR=28;RUN=1;SAF=49;SAP=103.072;SAR=1;SF=0;SRF=4;SRP=77.5051;SRR=45;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon177:c.A36982G:p.T12328A;cytoBand=2q31.2;genomicSuperDups=Score\x3d0.998123\x3bName\x3dchr2:179519036;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs146313925;Kaviar_AF=0.0080271;Kaviar_AC=1241;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=392123;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.014;CADD_raw=-0.802;CADD_phred=0.042;DANN_score=0.622;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-2.14;phyloP7way_vertebrate=-1.799;phyloP20way_mammalian=-4.476;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=3.15;GDI_full_10282015=.;dpsi_max_tissue=4.7829;dpsi_zscore=2.557;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=7.672e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/0:0,-18.9458,-1.35366:132:49:50:908:948 . . . . . . . . . . . . . . . . . . . . . 1/1:-33.7748,-58.2916,0:276:40:187:3174:760 . . . . . 1/1:-12.2584,-24.6615,0:138:25:84:1448:540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1.18364,-31.1245,0:220:78:99:1772:1530 . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179528038 . A C 1203.37 . AB=0;ABP=0;AC=12;AF=1;AN=30;AO=160;CIGAR=1X;DP=6636;DPB=182;DPRA=0;EPP=39.7082;EPPR=31.7504;GTI=0;LEN=1;MEANALT=3;MQM=10.375;MQMR=3.64706;NS=1;NUMALT=1;ODDS=200.001;PAIRED=1;PAIREDR=0.941176;PAO=0;PQA=0;PQR=0;PRO=0;QA=4353;QR=319;RO=17;RPL=49;RPP=55.1799;RPPR=13.3567;RPR=111;RUN=1;SAF=89;SAP=7.40753;SAR=71;SF=0,1;SRF=5;SRP=9.26925;SRR=12;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon173:c.T36655G:p.L12219V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs12994774;Kaviar_AF=0.057813;Kaviar_AC=8938;Kaviar_AN=154602;ExAC_ALL=0.0150;ExAC_AFR=0.0175;ExAC_AMR=0.0142;ExAC_EAS=0.0246;ExAC_FIN=0.0064;ExAC_NFE=0.0084;ExAC_OTH=0.0161;ExAC_SAS=0.0471;CLNALLELEID=221130;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.1;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.032;CADD_raw=-1.764;CADD_phred=0.002;DANN_score=0.630;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.980;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-4.3;phyloP7way_vertebrate=-2.343;phyloP20way_mammalian=-2.936;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=4.794;GDI_full_10282015=.;dpsi_max_tissue=-4.1263;dpsi_zscore=-2.368;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0954;gnomAD_exome_AFR=0.1321;gnomAD_exome_AMR=0.1701;gnomAD_exome_ASJ=0.0512;gnomAD_exome_EAS=0.3284;gnomAD_exome_FIN=0.0221;gnomAD_exome_NFE=0.0449;gnomAD_exome_OTH=0.1007;gnomAD_exome_SAS=0.1534;gnomAD_genome_ALL=0.1653;gnomAD_genome_AFR=0.2027;gnomAD_genome_AMR=0.2634;gnomAD_genome_ASJ=0.176;gnomAD_genome_EAS=0.3247;gnomAD_genome_FIN=0.1809;gnomAD_genome_NFE=0.1261;gnomAD_genome_OTH=0.1710;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 1/1:-125.198,-47.943,0:182:17:160:4353:319 . . . . . . . . . . . . . . . . . . . 1/1:-63.6705,-18.2982,0:88:11:72:1882:233 . 1/1:-174.627,-60.1358,0:284:36:236:6436:867 . . . . . 1/1:-140.706,-41.2312,0:154:9:142:4037:168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-232.002,-84.0809,0:336:36:297:8132:711 . . . . . . 0/0:0,-95.3156,-207.143:525:419:102:2979:13323:419,102 0/0:0,-113.487,-249.303:670:514:150:4074:15904:514,150 0/0:0,-89.6177,-268.211:718:592:124:3551:18695:592,124 . . . . 0/0:0,-94.5677,-238.532:663:534:126:3664:16065:534,126 . 1/1:-116.129,-36.4737,0:196:35:157:4705:913:35,157 . 0/0:0,-70.6124,-205.889:518:428:87:2579:13545:428,87 . 0/0:0,-60.618,-200.5:540:439:96:2890:13449:439,96 . . 0/0:0,-113.236,-252:621:506:110:3102:15750:506,110 0/0:0,-87.9725,-251.075:673:535:130:3708:16702:535,130 . 0/0:0,-90.1304,-207.6:468:405:62:1841:12891:405,62 chr2 179528068 . C A 1672.28 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=463;CIGAR=1X;DP=702;DPB=702;DPRA=0;EPP=60.7959;EPPR=28.7473;GTI=0;LEN=1;MEANALT=2;MQM=7.42549;MQMR=6.03376;NS=1;NUMALT=1;ODDS=271.087;PAIRED=0.917927;PAIREDR=0.945148;PAO=0;PQA=0;PQR=0;PRO=0;QA=14045;QR=7387;RO=237;RPL=275;RPP=38.5089;RPPR=21.564;RPR=188;RUN=1;SAF=239;SAP=4.06555;SAR=224;SF=1;SRF=103;SRP=11.8153;SRR=134;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon173:c.G36625T:p.V12209L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0045;1000g2015aug_all=0.057508;avsnp147=rs142156368;Kaviar_AF=0.0234538;Kaviar_AC=3626;Kaviar_AN=154602;ExAC_ALL=0.0269;ExAC_AFR=0.0221;ExAC_AMR=0.0065;ExAC_EAS=0.2311;ExAC_FIN=0.0276;ExAC_NFE=0.0062;ExAC_OTH=0.0246;ExAC_SAS=0.0585;CLNALLELEID=189642;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.779;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.425;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.54;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.048;CADD_raw=1.906;CADD_phred=15.63;DANN_score=0.836;fathmm-MKL_coding_score=0.049;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.39;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.005;phastCons7way_vertebrate=0.066;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=7.463;GDI_full_10282015=.;dpsi_max_tissue=6.0920;dpsi_zscore=2.734;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0234;gnomAD_exome_AFR=0.0186;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0235;gnomAD_exome_EAS=0.1632;gnomAD_exome_FIN=0.0269;gnomAD_exome_NFE=0.0042;gnomAD_exome_OTH=0.0195;gnomAD_exome_SAS=0.0487;gnomAD_genome_ALL=0.0168;gnomAD_genome_AFR=0.0173;gnomAD_genome_AMR=0.0038;gnomAD_genome_ASJ=0.0135;gnomAD_genome_EAS=0.1423;gnomAD_genome_FIN=0.0260;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0139;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-171.832,-88.9227,0:702:237:463:14045:7387:237,463 . . . . . . . . . . . . . . . . . . chr2 179528335 . T C 2066.61 . AB=0.375267;ABP=66.3904;AC=6;AF=0.5;AN=10;AO=176;CIGAR=1X;DP=2631;DPB=469;DPRA=0;EPP=36.372;EPPR=81.4119;GTI=0;LEN=1;MEANALT=3;MQM=14.0227;MQMR=19.0526;NS=1;NUMALT=1;ODDS=131.5;PAIRED=0.920455;PAIREDR=0.928571;PAO=0;PQA=0;PQR=0;PRO=0;QA=5256;QR=8246;RO=266;RPL=80;RPP=6.16881;RPPR=3.30418;RPR=96;RUN=1;SAF=106;SAP=19.0002;SAR=70;SF=0,1;SRF=138;SRP=3.82664;SRR=128;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0188;esp6500siv2_ea=0.0221;esp6500siv2_all=0.0188;esp6500siv2_ea=0.0221;1000g2015aug_all=0.0698882;avsnp147=rs10204913;Kaviar_AF=0.0559566;Kaviar_AC=8651;Kaviar_AN=154602;ExAC_ALL=0.0611;ExAC_AFR=0.0123;ExAC_AMR=0.1898;ExAC_EAS=0.0254;ExAC_FIN=0.0579;ExAC_NFE=0.0245;ExAC_OTH=0.0624;ExAC_SAS=0.1639;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.1569;dpsi_zscore=2.457;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0669;gnomAD_exome_AFR=0.0110;gnomAD_exome_AMR=0.1883;gnomAD_exome_ASJ=0.0264;gnomAD_exome_EAS=0.0268;gnomAD_exome_FIN=0.0562;gnomAD_exome_NFE=0.0237;gnomAD_exome_OTH=0.0562;gnomAD_exome_SAS=0.1628;gnomAD_genome_ALL=0.0278;gnomAD_genome_AFR=0.0120;gnomAD_genome_AMR=0.1571;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0282;gnomAD_genome_FIN=0.0521;gnomAD_genome_NFE=0.0226;gnomAD_genome_OTH=0.0509;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-73.4756,0,-281.253:469:266:176:5256:8246 . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-478.937,-98.8727,0:394:10:363:10989:264 . . . . . . 0/1:-90.6582,0,-325.93:469:277:171:4941:8928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-247.424,0,-475.553:581:328:243:7456:10753:328,243 0/1:-267.235,0,-578.207:718:416:278:8603:13199:416,278 . . . . . . . . . . . . . . . . . . chr2 179528378 . C T 1792.05 . AB=0.366422;ABP=129.477;AC=12;AF=0.5;AN=22;AO=299;CIGAR=1X;DP=6253;DPB=816;DPRA=0;EPP=7.54933;EPPR=141.127;GTI=0;LEN=1;MEANALT=3;MQM=19.3378;MQMR=25.8004;NS=1;NUMALT=1;ODDS=454.482;PAIRED=0.979933;PAIREDR=0.932773;PAO=0;PQA=0;PQR=0;PRO=0;QA=8627;QR=14886;RO=476;RPL=119;RPP=30.0339;RPPR=13.521;RPR=180;RUN=1;SAF=173;SAP=19.0531;SAR=126;SF=0,1;SRF=291;SRP=54.268;SRR=185;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon171:c.G36508A:p.E12170K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1835;esp6500siv2_ea=0.0560;esp6500siv2_all=0.1835;esp6500siv2_ea=0.0560;1000g2015aug_all=0.259185;avsnp147=rs2163008;Kaviar_AF=0.135956;Kaviar_AC=21019;Kaviar_AN=154602;ExAC_ALL=0.1476;ExAC_AFR=0.4739;ExAC_AMR=0.2531;ExAC_EAS=0.1335;ExAC_FIN=0.1258;ExAC_NFE=0.0632;ExAC_OTH=0.1289;ExAC_SAS=0.2435;CLNALLELEID=189644;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.986;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.127;CADD_raw=2.900;CADD_phred=21.9;DANN_score=0.725;fathmm-MKL_coding_score=0.006;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.930;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.77;phyloP7way_vertebrate=-0.435;phyloP20way_mammalian=-0.289;phastCons7way_vertebrate=0.264;phastCons20way_mammalian=0.661;SiPhy_29way_logOdds=7.980;GDI_full_10282015=.;dpsi_max_tissue=0.1604;dpsi_zscore=0.641;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1464;gnomAD_exome_AFR=0.4725;gnomAD_exome_AMR=0.2536;gnomAD_exome_ASJ=0.0710;gnomAD_exome_EAS=0.1340;gnomAD_exome_FIN=0.1223;gnomAD_exome_NFE=0.0595;gnomAD_exome_OTH=0.1173;gnomAD_exome_SAS=0.2391;gnomAD_genome_ALL=0.1882;gnomAD_genome_AFR=0.4600;gnomAD_genome_AMR=0.2158;gnomAD_genome_ASJ=0.09;gnomAD_genome_EAS=0.1266;gnomAD_genome_FIN=0.1203;gnomAD_genome_NFE=0.0572;gnomAD_genome_OTH=0.1186;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-218.546,0,-689.086:816:476:299:8627:14886 . . . . . . . . . 0/1:-162.63,0,-615.64:703:419:234:6607:13123 . . . . 0/1:-116.623,0,-403.688:546:322:186:5232:9997 . . . . 0/1:-154.584,0,-624.974:759:439:252:7156:13777 . . . . . . . . . . . . . . . . . 0/1:-51.4131,0,-121.641:182:94:63:1744:3022 . 1/1:-473.643,-79.7748,0:365:11:309:9157:336 . . . . . 0/1:-109.734,0,-256.308:353:192:137:3844:6016 0/1:-134.508,0,-483.628:532:324:174:4965:10239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-290.773,0,-538.978:608:338:229:7121:10557:338,229 0/1:-302.333,0,-648.559:711:406:258:7761:12883:406,258 . . . . . . . . . . . . . . 0/1:-294.444,0,-651.821:678:395:242:7112:12361:395,242 . . . chr2 179528759 . T C 5695.05 . AB=0.447653;ABP=22.7887;AC=1;AF=0.5;AN=2;AO=372;CIGAR=1X;DP=831;DPB=831;DPRA=0;EPP=18.7943;EPPR=12.4132;GTI=0;LEN=1;MEANALT=3;MQM=33.8038;MQMR=31.6932;NS=1;NUMALT=1;ODDS=1311.33;PAIRED=0.943548;PAIREDR=0.95082;PAO=0;PQA=0;PQR=0;PRO=0;QA=10529;QR=12630;RO=427;RPL=167;RPP=11.4393;RPPR=82.4699;RPR=205;RUN=1;SAF=203;SAP=9.75821;SAR=169;SF=0;SRF=217;SRP=3.25949;SRR=210;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon169:c.A36347G:p.E12116G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0040;1000g2015aug_all=0.000199681;avsnp147=rs200513156;Kaviar_AF=0.0020828;Kaviar_AC=322;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0013;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0034;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=189647;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.06;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.84;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.205;CADD_raw=0.496;CADD_phred=7.397;DANN_score=0.983;fathmm-MKL_coding_score=0.233;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.083;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.01;phyloP7way_vertebrate=0.018;phyloP20way_mammalian=-0.407;phastCons7way_vertebrate=0.552;phastCons20way_mammalian=0.143;SiPhy_29way_logOdds=6.357;GDI_full_10282015=.;dpsi_max_tissue=1.1996;dpsi_zscore=1.634;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0038;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-581.123,0,-685.465:831:427:372:10529:12630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179528788 . T C 4872.44 . AB=0.462541;ABP=10.4937;AC=1;AF=0.5;AN=2;AO=284;CIGAR=1X;DP=614;DPB=614;DPRA=0;EPP=12.9196;EPPR=39.7976;GTI=0;LEN=1;MEANALT=3;MQM=35.8345;MQMR=32.6013;NS=1;NUMALT=1;ODDS=1121.92;PAIRED=0.947183;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=8403;QR=9485;RO=306;RPL=159;RPP=11.8491;RPPR=8.57381;RPR=125;RUN=1;SAF=135;SAP=4.50892;SAR=149;SF=1;SRF=142;SRP=6.44492;SRR=164;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon169:c.A36318G:p.K12106K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0013;1000g2015aug_all=0.0183706;avsnp147=rs2115557;Kaviar_AF=0.0056338;Kaviar_AC=871;Kaviar_AN=154602;ExAC_ALL=0.0062;ExAC_AFR=0.0645;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0016;ExAC_OTH=0.0035;ExAC_SAS=0.0003;CLNALLELEID=221131;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8911;dpsi_zscore=-2.128;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0056;gnomAD_exome_AFR=0.0637;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0179;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0048;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0180;gnomAD_genome_AFR=0.0609;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-496.903,0,-512.981:614:306:284:8403:9485:306,284 . . . chr2 179529158 . C T 5407.10 . AB=0.478049;ABP=5.58429;AC=1;AF=0.5;AN=2;AO=294;CIGAR=1X;DP=615;DPB=615;DPRA=0;EPP=10.5735;EPPR=34.9877;GTI=0;LEN=1;MEANALT=3;MQM=37.398;MQMR=38.0096;NS=1;NUMALT=1;ODDS=1245.03;PAIRED=0.965986;PAIREDR=0.971338;PAO=0;PQA=0;PQR=0;PRO=0;QA=8943;QR=9640;RO=314;RPL=133;RPP=8.80089;RPPR=18.9437;RPR=161;RUN=1;SAF=190;SAP=57.6369;SAR=104;SF=0;SRF=218;SRP=105.941;SRR=96;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0075;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0075;1000g2015aug_all=0.00119808;avsnp147=rs191708988;Kaviar_AF=0.0038227;Kaviar_AC=591;Kaviar_AN=154602;ExAC_ALL=0.0036;ExAC_AFR=0.0018;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0057;ExAC_OTH=0.0082;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6389;dpsi_zscore=-1.219;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0071;gnomAD_exome_OTH=0.0032;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0043;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0062;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-555.198,0,-619.977:615:314:294:8943:9640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179529273 . A G 11971.35 . AB=0.486297;ABP=5.33132;AC=2;AF=0.5;AN=4;AO=692;CIGAR=1X;DP=2770;DPB=1423;DPRA=0;EPP=192.907;EPPR=227.869;GTI=0;LEN=1;MEANALT=3;MQM=38.1387;MQMR=39.1832;NS=1;NUMALT=1;ODDS=2856.5;PAIRED=0.972543;PAIREDR=0.97017;PAO=0;PQA=0;PQR=0;PRO=0;QA=20166;QR=21888;RO=704;RPL=295;RPP=35.6577;RPPR=18.1242;RPR=397;RUN=1;SAF=362;SAP=6.22358;SAR=330;SF=0;SRF=354;SRP=3.05965;SRR=350;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0218;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0218;1000g2015aug_all=0.0367412;avsnp147=rs2562849;Kaviar_AF=0.030834;Kaviar_AC=4767;Kaviar_AN=154602;ExAC_ALL=0.0340;ExAC_AFR=0.0038;ExAC_AMR=0.0369;ExAC_EAS=0.1028;ExAC_FIN=0.0529;ExAC_NFE=0.0273;ExAC_OTH=0.0278;ExAC_SAS=0.0301;CLNALLELEID=392025;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.7656;dpsi_zscore=-2.306;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0336;gnomAD_exome_AFR=0.0051;gnomAD_exome_AMR=0.0358;gnomAD_exome_ASJ=0.0159;gnomAD_exome_EAS=0.1023;gnomAD_exome_FIN=0.0492;gnomAD_exome_NFE=0.0253;gnomAD_exome_OTH=0.0303;gnomAD_exome_SAS=0.0292;gnomAD_genome_ALL=0.0262;gnomAD_genome_AFR=0.0050;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0896;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0247;gnomAD_genome_OTH=0.0347;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . 0/1:-1271.78,0,-1435.75:1423:704:692:20166:21888 . . . . . . . . . . . . . . . . . . . 0/1:-1188.21,0,-1377.5:1347:664:645:18495:20713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179529497 . T G 8908.95 . AB=0.474499;ABP=9.21225;AC=2;AF=0.5;AN=4;AO=521;CIGAR=1X;DP=2181;DPB=1098;DPRA=0;EPP=15.6182;EPPR=5.19696;GTI=0;LEN=1;MEANALT=3;MQM=38.8119;MQMR=39.8846;NS=1;NUMALT=1;ODDS=2058.37;PAIRED=0.984645;PAIREDR=0.95979;PAO=0;PQA=0;PQR=0;PRO=0;QA=14561;QR=17825;RO=572;RPL=314;RPP=50.7285;RPPR=65.2086;RPR=207;RUN=1;SAF=261;SAP=3.01447;SAR=260;SF=0;SRF=286;SRP=3.0103;SRR=286;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0171;esp6500siv2_ea=0.0216;esp6500siv2_all=0.0171;esp6500siv2_ea=0.0216;1000g2015aug_all=0.0369409;avsnp147=rs2742353;Kaviar_AF=0.0304977;Kaviar_AC=4715;Kaviar_AN=154602;ExAC_ALL=0.0343;ExAC_AFR=0.0038;ExAC_AMR=0.0372;ExAC_EAS=0.1055;ExAC_FIN=0.0531;ExAC_NFE=0.0277;ExAC_OTH=0.0284;ExAC_SAS=0.0305;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.2975;dpsi_zscore=2.763;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0333;gnomAD_exome_AFR=0.0051;gnomAD_exome_AMR=0.0352;gnomAD_exome_ASJ=0.0154;gnomAD_exome_EAS=0.1018;gnomAD_exome_FIN=0.0489;gnomAD_exome_NFE=0.0252;gnomAD_exome_OTH=0.0297;gnomAD_exome_SAS=0.0286;gnomAD_genome_ALL=0.0262;gnomAD_genome_AFR=0.0050;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0880;gnomAD_genome_FIN=0.0538;gnomAD_genome_NFE=0.0247;gnomAD_genome_OTH=0.0347;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-908.501,0,-1196.12:1098:572:521:14561:17825 . . . . . . . . . . . . . . . . . . . 0/1:-902.438,0,-1213.01:1083:585:493:14337:18090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179530395 . C T 13930.65 . AB=0.511022;ABP=4.58995;AC=2;AF=0.5;AN=4;AO=765;CIGAR=1X;DP=2903;DPB=1497;DPRA=0;EPP=3.49001;EPPR=48.2767;GTI=0;LEN=1;MEANALT=3;MQM=39.1085;MQMR=39.605;NS=1;NUMALT=1;ODDS=3307.73;PAIRED=0.966013;PAIREDR=0.960784;PAO=0;PQA=0;PQR=0;PRO=0;QA=23741;QR=23048;RO=714;RPL=233;RPP=256.777;RPPR=388.45;RPR=532;RUN=1;SAF=477;SAP=104.405;SAR=288;SF=0;SRF=455;SRP=119.844;SRR=259;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00199681;avsnp147=rs543566924;Kaviar_AF=0.0006856;Kaviar_AC=106;Kaviar_AN=154602;ExAC_ALL=0.0037;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0044;ExAC_OTH=0;ExAC_SAS=0.0094;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-6.5962;dpsi_zscore=-2.668;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0040;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0053;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1566.82,0,-1501.79:1497:714:765:23741:23048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1301.4,0,-1564.01:1406:737:643:20187:23256 . . . . . . . . . . . . . . . . . . . . . chr2 179531543 . A C 5453.55 . AB=0.46875;ABP=9.25328;AC=2;AF=0.5;AN=4;AO=345;CIGAR=1X;DP=1264;DPB=736;DPRA=0;EPP=4.07401;EPPR=3.37411;GTI=0;LEN=1;MEANALT=3;MQM=39.8261;MQMR=40.2199;NS=1;NUMALT=1;ODDS=1463.89;PAIRED=0.97971;PAIREDR=0.994764;PAO=0;PQA=0;PQR=0;PRO=0;QA=10092;QR=11506;RO=382;RPL=143;RPP=24.9201;RPPR=84.8669;RPR=202;RUN=1;SAF=202;SAP=24.9201;SAR=143;SF=0;SRF=226;SRP=30.8643;SRR=156;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=.;avsnp147=rs192408585;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=391993;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3880;dpsi_zscore=1.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0010;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-648.297,0,-771.817:736:382:345:10092:11506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-471.595,0,-501.887:528:266:250:7297:7633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179531693 . A G 6261.30 . AB=0.442065;ABP=26.1581;AC=1;AF=0.5;AN=2;AO=351;CIGAR=1X;DP=794;DPB=794;DPRA=0;EPP=66.1191;EPPR=114.141;GTI=0;LEN=1;MEANALT=3;MQM=40.9658;MQMR=41.264;NS=1;NUMALT=1;ODDS=1441.72;PAIRED=0.991453;PAIREDR=0.997664;PAO=0;PQA=0;PQR=0;PRO=0;QA=10096;QR=12795;RO=428;RPL=167;RPP=4.79821;RPPR=32.315;RPR=184;RUN=1;SAF=124;SAP=68.6432;SAR=227;SF=0;SRF=126;SRP=160.168;SRR=302;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0309505;avsnp147=rs2562850;Kaviar_AF=0.0048512;Kaviar_AC=750;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1378;dpsi_zscore=-1.548;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0253;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0890;gnomAD_genome_FIN=0.0536;gnomAD_genome_NFE=0.0231;gnomAD_genome_OTH=0.0337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-648.643,0,-886.998:794:428:351:10096:12795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179534225 . G A 7378.27 . AB=0.437423;ABP=30.4591;AC=5;AF=0.5;AN=10;AO=353;CIGAR=1X;DP=4634;DPB=807;DPRA=0;EPP=132.345;EPPR=221.645;GTI=0;LEN=1;MEANALT=3;MQM=40.5552;MQMR=40.9795;NS=1;NUMALT=1;ODDS=1304.11;PAIRED=0.968839;PAIREDR=0.984018;PAO=0;PQA=0;PQR=0;PRO=0;QA=9513;QR=12202;RO=438;RPL=209;RPP=29.0003;RPPR=27.303;RPR=144;RUN=1;SAF=161;SAP=8.92187;SAR=192;SF=0;SRF=194;SRP=15.4045;SRR=244;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00838658;avsnp147=rs150597207;Kaviar_AF=0.0032923;Kaviar_AC=509;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.3906;dpsi_zscore=2.085;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0183;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0441;gnomAD_genome_NFE=0.0220;gnomAD_genome_OTH=0.0327;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-592.499,0,-829.508:807:438:353:9513:12202 . . . . . . . . . . . 0/1:-637.12,0,-726.562:757:373:364:9839:10831 . . . . . . . 0/1:-662.672,0,-804.722:827:422:383:10271:11958 . . . . . . . . 0/1:-948.425,0,-1299.79:1194:651:521:14866:18774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1008.68,0,-874.275:1049:478:539:15082:13414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179538411 . G A 3932.54 . AB=0.488998;ABP=3.44035;AC=1;AF=0.5;AN=2;AO=200;CIGAR=1X;DP=409;DPB=409;DPRA=0;EPP=5.13834;EPPR=3.38978;GTI=0;LEN=1;MEANALT=3;MQM=40.72;MQMR=40.335;NS=1;NUMALT=1;ODDS=905.5;PAIRED=0.95;PAIREDR=0.975728;PAO=0;PQA=0;PQR=0;PRO=0;QA=6193;QR=6544;RO=206;RPL=41;RPP=154.188;RPPR=221.591;RPR=159;RUN=1;SAF=100;SAP=3.0103;SAR=100;SF=0;SRF=105;SRP=3.17896;SRR=101;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon147:c.C30832T:p.P10278S,TTN:NM_001256850:exon148:c.C33613T:p.P11205S,TTN:NM_001267550:exon152:c.C34735T:p.P11579S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs754511830;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.501e-05;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=449952;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.865;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.421;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-1.91;FATHMM_pred=D;PROVEAN_score=-3.59;PROVEAN_pred=D;VEST3_score=0.228;CADD_raw=2.879;CADD_phred=21.8;DANN_score=0.996;fathmm-MKL_coding_score=0.875;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.104;MetaSVM_pred=T;MetaLR_score=0.452;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=10.478;GDI_full_10282015=.;dpsi_max_tissue=1.4055;dpsi_zscore=1.735;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.315e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.482e-05;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-416.689,0,-438.467:409:206:200:6193:6544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179538492 . C T 5453.16 . AB=0.487382;ABP=3.88711;AC=1;AF=0.5;AN=2;AO=309;CIGAR=1X;DP=634;DPB=634;DPRA=0;EPP=32.7011;EPPR=22.0741;GTI=0;LEN=1;MEANALT=3;MQM=40.7379;MQMR=41.0649;NS=1;NUMALT=1;ODDS=1255.64;PAIRED=0.987055;PAIREDR=0.967532;PAO=0;PQA=0;PQR=0;PRO=0;QA=8612;QR=9256;RO=308;RPL=194;RPP=46.8684;RPPR=35.6106;RPR=115;RUN=1;SAF=112;SAP=53.7834;SAR=197;SF=0;SRF=116;SRP=43.7325;SRR=192;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0016;1000g2015aug_all=0.000798722;avsnp147=rs72650050;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.3696;dpsi_zscore=-2.005;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0034;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0054;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-565.368,0,-623.113:634:308:309:8612:9256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179539812 . T G 5740.77 . AB=0.492013;ABP=3.35718;AC=1;AF=0.5;AN=2;AO=308;CIGAR=1X;DP=626;DPB=626;DPRA=0;EPP=3.0103;EPPR=15.9204;GTI=0;LEN=1;MEANALT=3;MQM=38.1948;MQMR=39.3698;NS=1;NUMALT=1;ODDS=1321.86;PAIRED=0.983766;PAIREDR=0.971061;PAO=0;PQA=0;PQR=0;PRO=0;QA=9173;QR=9605;RO=311;RPL=129;RPP=20.6359;RPPR=126.519;RPR=179;RUN=1;SAF=165;SAP=6.42261;SAR=143;SF=0;SRF=147;SRP=5.02816;SRR=164;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon145:c.A30663C:p.E10221D,TTN:NM_001256850:exon146:c.A33444C:p.E11148D,TTN:NM_001267550:exon150:c.A34566C:p.E11522D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0018;1000g2015aug_all=0.00599042;avsnp147=rs140640738;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0240;CLNALLELEID=56069;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.226;SIFT_pred=T;Polyphen2_HDIV_score=0.256;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.076;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=-0.49;FATHMM_pred=T;PROVEAN_score=-1.17;PROVEAN_pred=N;VEST3_score=0.13;CADD_raw=1.654;CADD_phred=14.15;DANN_score=0.793;fathmm-MKL_coding_score=0.930;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.656;MetaSVM_pred=T;MetaLR_score=0.287;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.31;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=7.624;GDI_full_10282015=.;dpsi_max_tissue=-1.9961;dpsi_zscore=-1.900;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=7.959e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0209;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-583.707,0,-627.472:626:311:308:9173:9605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179539903 . C A 4710.31 . AB=0.505376;ABP=3.17374;AC=51;AF=0.5;AN=92;AO=329;CIGAR=1X;DP=21411;DPB=651;DPRA=0;EPP=3.0169;EPPR=3.11956;GTI=0;LEN=1;MEANALT=3;MQM=38.5441;MQMR=39.9937;NS=1;NUMALT=1;ODDS=1398.2;PAIRED=0.957447;PAIREDR=0.965409;PAO=0;PQA=0;PQR=0;PRO=0;QA=9772;QR=9748;RO=318;RPL=240;RPP=153.502;RPPR=136.849;RPR=89;RUN=1;SAF=140;SAP=18.8574;SAR=189;SF=0,1;SRF=144;SRP=9.15598;SRR=174;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3118;esp6500siv2_ea=0.2126;esp6500siv2_all=0.3118;esp6500siv2_ea=0.2126;1000g2015aug_all=0.471246;avsnp147=rs2472751;Kaviar_AF=0.0584663;Kaviar_AC=9039;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7970;dpsi_zscore=-1.342;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3366;gnomAD_genome_AFR=0.5363;gnomAD_genome_AMR=0.4072;gnomAD_genome_ASJ=0.2384;gnomAD_genome_EAS=0.5742;gnomAD_genome_FIN=0.2377;gnomAD_genome_NFE=0.2194;gnomAD_genome_OTH=0.2813;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-632.01,0,-641.067:651:318:329:9772:9748 . . . . . . 0/1:-368.206,0,-398.721:394:205:187:5624:6027 . . 0/1:-426.24,0,-497.052:485:246:235:6736:7401 0/1:-447.002,0,-430.972:450:216:233:6744:6570 . . . 0/1:-414.595,0,-479.081:474:249:223:6645:7349 . . 1/1:-896.404,-99.4924,0:377:7:365:10625:140 0/1:-320.478,0,-335.198:354:181:172:5034:5212 0/1:-580.639,0,-543.09:606:292:310:9067:8414 . . . . . 0/1:-560.6,0,-619.582:598:297:297:8755:9191 0/1:-463.451,0,-468.782:476:233:243:7105:7190 . . 0/1:-640.173,0,-719.869:707:360:340:9909:10837 . . . . . 0/1:-818.138,0,-607.274:771:337:429:12497:10114 . 1/1:-384.268,-44.4975,0:153:1:151:4529:14 . 1/1:-867.759,-98.3618,0:371:6:364:10412:146 0/1:-470.859,0,-394.796:445:201:243:7156:6193 . . . 0/1:-403.724,0,-421.135:422:211:210:6262:6400 1/1:-708.396,-77.8362,0:288:4:284:8412:109 0/1:-464.611,0,-434.392:460:221:237:7042:6652 0/1:-543.69,0,-614.92:602:309:290:8484:9266 0/1:-567.834,0,-547.768:575:283:292:8675:8438 . . 0/1:-421.436,0,-545.79:501:276:222:6676:8015 0/1:-409.033,0,-397.251:430:211:219:6305:6286 . 0/1:-404.009,0,-471.421:439:224:213:6311:6974 . . . 0/1:-295.937,0,-338.565:335:170:162:4627:5127 0/1:-557.104,0,-481.616:547:254:292:8422:7583 . 0/1:-367.931,0,-392.888:391:197:190:5678:5964 . 0/1:-388.304,0,-479.674:438:234:204:6057:7052 0/1:-266.146,0,-446.967:390:227:161:4406:6636 0/1:-503.899,0,-622.455:579:314:263:7984:9369 . . . . . . . 0/1:-363.054,0,-553.696:478:269:205:5907:8072 . 0/1:-574.662,0,-529.18:581:281:297:8765:8273 . . 0/1:-477.756,0,-571.203:529:279:248:7422:8424 0/1:-525.992,0,-546.09:553:284:266:7967:8223 . . . . . 0/1:-478.912,0,-550.991:517:269:246:7457:8233 . 0/1:-527.555,0,-676.85:613:331:280:8347:10065 . 0/1:-486.357,0,-366.57:443:202:241:7179:5774 . . . . 0/1:-284.696,0,-471.953:347:205:141:4533:6599:205,141 0/1:-518.32,0,-418.062:440:206:233:7481:6384:206,233 0/1:-557.17,0,-537.936:515:252:262:8290:7961:252,262 . . . . 0/1:-449.173,0,-522.3:458:241:214:6788:7613:241,214 . 1/1:-935.06,-79.2581,0:369:12:357:11239:358:12,357 . 0/1:-343.037,0,-366.375:342:170:171:5183:5416:170,171 . 0/1:-292.817,0,-535.317:398:244:152:4876:7539:244,152 . . 0/1:-314.854,0,-443.318:358:198:158:4903:6362:198,158 0/1:-478.443,0,-431.831:428:205:221:6978:6443:205,221 . 0/1:-299.995,0,-424.795:333:189:144:4618:6022:189,144 chr2 179541899 . C G 10118.68 . AB=0.488818;ABP=3.69019;AC=164;AF=0.5;AN=210;AO=306;CIGAR=1X;DP=60814;DPB=626;DPRA=0;EPP=9.39698;EPPR=3.12095;GTI=0;LEN=1;MEANALT=3;MQM=38.683;MQMR=38.1338;NS=1;NUMALT=1;ODDS=1265.25;PAIRED=0.964052;PAIREDR=0.923567;PAO=0;PQA=0;PQR=0;PRO=0;QA=8873;QR=9787;RO=314;RPL=193;RPP=48.4267;RPPR=14.0751;RPR=113;RUN=1;SAF=181;SAP=25.2643;SAR=125;SF=0,1;SRF=206;SRP=69.4269;SRR=108;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.773363;avsnp147=rs2742351;Kaviar_AF=0.111965;Kaviar_AC=17310;Kaviar_AN=154602;ExAC_ALL=0.7400;ExAC_AFR=0.7781;ExAC_AMR=0.6979;ExAC_EAS=0.6912;ExAC_FIN=1;ExAC_NFE=0.7155;ExAC_OTH=0.6429;ExAC_SAS=0.8860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5846;dpsi_zscore=-1.172;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7201;gnomAD_exome_AFR=0.7818;gnomAD_exome_AMR=0.6641;gnomAD_exome_ASJ=0.6011;gnomAD_exome_EAS=0.6857;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.7180;gnomAD_exome_OTH=0.7419;gnomAD_exome_SAS=0.8818;gnomAD_genome_ALL=0.7649;gnomAD_genome_AFR=0.7871;gnomAD_genome_AMR=0.6440;gnomAD_genome_ASJ=0.5629;gnomAD_genome_EAS=0.7414;gnomAD_genome_FIN=0.8319;gnomAD_genome_NFE=0.7498;gnomAD_genome_OTH=0.7739;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-563.781,0,-622.464:626:314:306:8873:9787 0/1:-605.391,0,-927.275:753:429:316:9852:13733 0/1:-578.438,0,-772.036:691:371:312:9391:11648 1/1:-1090.35,-117.987,0:432:4:423:13128:127 0/1:-503.694,0,-696.873:601:324:272:8271:10385 1/1:-1838.32,-197.726,0:736:8:717:22377:247 0/1:-467.303,0,-590.226:523:277:241:7436:8744 0/1:-711.745,0,-670.509:696:331:352:10944:10446 0/1:-451.005,0,-577.077:512:272:235:7070:8776 0/1:-702.712,0,-793.742:753:383:363:11069:12149 0/1:-561.979,0,-590.092:587:291:291:8812:9398 0/1:-580.873,0,-640.125:608:305:296:9085:9706 1/1:-1372.21,-152.358,0:575:7:562:16878:226 . . 1/1:-2073.65,-215.041,0:829:13:806:24885:381 1/1:-1142.85,-126.593,0:479:7:466:14287:178 . 1/1:-1455.88,-172.227,0:587:1:572:17554:32 1/1:-1002.29,-117.307,0:405:3:399:11954:42 1/1:-905.63,-97.9438,0:374:6:364:11118:153 0/1:-736.356,0,-943.016:837:439:387:11763:14068 0/1:-283.296,0,-482.182:406:233:167:4983:7333 1/1:-1676.08,-171.973,0:674:10:657:20320:326 0/1:-682.529,0,-913.949:791:421:358:11053:13586 0/1:-388.254,0,-510.109:481:252:218:6553:7846 1/1:-1147.3,-116.527,0:487:10:471:14196:320 0/1:-448.105,0,-766.017:625:363:256:7710:11438 0/1:-404.934,0,-409.334:413:205:204:6264:6377 0/1:-360.099,0,-499.919:424:228:192:5859:7520 0/1:-422.289,0,-625.961:528:297:227:6843:9387 0/1:-769.768,0,-937.506:873:454:409:12166:14318 1/1:-1617.25,-171.976,0:651:9:636:19632:270 0/1:-119.471,0,-209.534:170:102:65:1990:3126 1/1:-1751.46,-193.774,0:703:6:691:21266:181 1/1:-1787.74,-196.611,0:721:6:709:21686:212 . 1/1:-1734.78,-202.665,0:698:3:688:21306:60 . 1/1:-478.755,-53.4792,0:189:2:184:5782:28 0/1:-790.707,0,-876.489:812:412:393:12225:13228 1/1:-1221.1,-138.469,0:491:3:478:15068:71 1/1:-1201.44,-128.832,0:492:7:477:14620:198 0/1:-561.637,0,-692.284:602:322:276:8735:10257 1/1:-2058.08,-231.876,0:787:2:781:24557:50 1/1:-1322.31,-154.71,0:546:3:535:15997:104 1/1:-1386.56,-155.802,0:547:4:540:16568:96 1/1:-669.738,-68.2736,0:275:5:268:8248:158 1/1:-1358.91,-159.792,0:539:1:534:16318:14 1/1:-1715.13,-173.953,0:710:12:682:20813:398 0/1:-550.507,0,-759.855:644:350:289:8926:11259 1/1:-1387.16,-159.007,0:567:3:553:16868:104 1/1:-1876.64,-215.537,0:723:0:716:22341:0 1/1:-1550.74,-181.262,0:621:2:609:18614:41 1/1:-1109.85,-131.822,0:468:4:459:13588:85 0/1:-429.265,0,-562.715:494:266:218:6676:8499 1/1:-1392.36,-167.743,0:573:1:562:16811:21 1/1:-820.147,-91.1841,0:344:7:331:10183:138 1/1:-1211.21,-139.713,0:491:3:482:14625:71 0/1:-415.746,0,-487.56:447:227:211:6565:7338 1/1:-980.056,-115.799,0:398:3:392:11859:42 1/1:-1803.94,-187.828,0:740:13:719:22192:370 0/1:-528.725,0,-584.64:548:282:264:8210:8840 1/1:-1005.66,-108.894,0:422:6:407:12257:175 1/1:-1980.61,-220.27,0:799:9:784:24059:250 0/1:-478.846,0,-728.615:600:330:261:7842:10574 0/1:-365.803,0,-418.619:427:213:207:6131:6565 0/1:-599.784,0,-677.658:663:338:315:9547:10394 1/1:-903.557,-100.673,0:360:5:355:10850:96 1/1:-1626.49,-164.944,0:646:11:630:19601:324 0/1:-589.041,0,-578.609:611:288:314:9287:9096 0/1:-605.011,0,-756.32:715:372:334:10023:11424 . . 1/1:-1341.34,-150.349,0:518:3:513:15823:55 1/1:-1300.3,-148.47,0:520:3:508:15599:60 1/1:-1495.27,-161.259,0:597:9:585:18385:228 1/1:-1552.9,-174.697,0:631:7:614:18731:151 . 1/1:-1222.43,-139.208,0:494:4:484:14929:96 0/1:-448.326,0,-803.313:644:383:253:7559:11900 1/1:-1611.37,-178.13,0:659:8:644:19622:211 . 0/1:-554.103,0,-541.047:555:266:285:8667:8403 1/1:-1194.38,-127.602,0:493:8:478:14716:250 1/1:-1115.68,-124.675,0:449:4:433:13380:78 1/1:-1165.59,-117.104,0:486:12:467:14270:318 0/1:-505.93,0,-884.429:722:420:302:8896:13403 0/1:-381.707,0,-399.624:403:199:200:5957:6209 0/1:-479.575,0,-708.225:611:337:266:7948:10539 1/1:-1913.29,-217.61,0:765:4:752:22786:113 1/1:-1212.55,-143.466,0:497:3:486:14657:42 1/1:-1638.38,-181.156,0:659:6:645:19860:168 1/1:-1448.19,-162.627,0:582:4:575:17638:131 . . 0/1:-595.949,0,-876.959:679:383:288:9190:12497:383,288 1/1:-1774.34,-190.984,0:651:1:644:20710:36:1,644 1/1:-1594.61,-169.851,0:607:5:589:18782:114:5,589 0/1:-402.604,0,-494.031:413:220:191:6120:7220:220,191 0/1:-618.379,0,-735.58:646:336:303:9581:10770:336,303 1/1:-1981.99,-218.993,0:744:1:736:23338:32:1,736 0/1:-619.892,0,-765.324:647:336:302:9570:11078:336,302 1/1:-1661.86,-180.462,0:615:1:608:19415:32:1,608 0/1:-670.461,0,-763.029:673:339:325:10206:11225:339,325 1/1:-1434.1,-146.494,0:543:7:530:16796:171:7,530 1/1:-1569.52,-167.209,0:603:6:589:18533:135:6,589 0/1:-575.305,0,-667:590:300:286:8923:9848:300,286 0/1:-566.675,0,-725.671:606:324:277:8683:10524:324,277 1/1:-1600.21,-175.26,0:617:6:607:19043:128:6,607 0/1:-485.417,0,-744.143:570:326:240:7745:10589:326,240 1/1:-1556.9,-167.748,0:581:3:573:18260:64:3,573 1/1:-1180.65,-128.503,0:452:2:445:13959:68:2,445 0/1:-557.443,0,-774.515:634:344:279:8837:11090:344,279 1/1:-1605.37,-171.415,0:613:4:601:18997:122:4,601 0/1:-450.153,0,-662.976:505:286:215:6907:9394:286,215 chr2 179542060 . GTCATATATATATATATATATATATATATG GTCATATATATATATATATATATATATATATG,TTCATATATATATATATATATATATATATG 126.22 . AB=0;ABP=0;AC=2,0;AF=1;AN=14;AO=39;CIGAR=3M2I27M;DP=3096;DPB=205.267;DPRA=0;EPP=5.73856;EPPR=3.87889;GTI=0;LEN=2;MEANALT=39;MQM=39.2051;MQMR=41.8;NS=1;NUMALT=1;ODDS=87.1876;PAIRED=0.974359;PAIREDR=0.9;PAO=72;PQA=2234.67;PQR=2234.67;PRO=72;QA=822;QR=315;RO=10;RPL=26;RPP=12.42;RPPR=6.48466;RPR=13;RUN=1;SAF=3;SAP=63.6445;SAR=36;SF=1;SRF=1;SRP=16.9077;SRR=9;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs71393434;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.1728;ExAC_AFR=0.1379;ExAC_AMR=0;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.2083;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2930;gnomAD_exome_AFR=0.1452;gnomAD_exome_AMR=0.3;gnomAD_exome_ASJ=0.26;gnomAD_exome_EAS=0.1667;gnomAD_exome_FIN=.;gnomAD_exome_NFE=0.3006;gnomAD_exome_OTH=0.25;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.2986;gnomAD_genome_AFR=0.1821;gnomAD_genome_AMR=0.2;gnomAD_genome_ASJ=0.2581;gnomAD_genome_EAS=0.1086;gnomAD_genome_FIN=0.3780;gnomAD_genome_NFE=0.3450;gnomAD_genome_OTH=0.3277;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2143;dpsi_zscore=1.643;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-45.009,-181.845,0,.,.,.:115:10:39,.:822,.:315:10,39 . . 0/0:.,.,.,.,.,-1238.26:555:509:.,41:.,851:15407:509,41 0/0:.,.,.,.,.,-1221.62:529:495:.,29:.,629:15181:495,29 . 0/0:.,.,.,.,.,-910.295:381:358:.,22:.,482:11377:358,22 . 0/0:.,.,.,.,.,-1068.99:457:431:.,25:.,520:13330:431,25 . 0/0:.,.,.,.,.,-1312.08:577:539:.,34:.,691:16542:539,34 . . 0/0:.,.,.,.,.,-1134.36:482:453:.,27:.,507:13767:453,27 . . . chr2 179543195 . C T 5328.59 . AB=0.503049;ABP=3.06326;AC=2;AF=0.5;AN=4;AO=330;CIGAR=1X;DP=1316;DPB=656;DPRA=0;EPP=20.8032;EPPR=36.279;GTI=0;LEN=1;MEANALT=3;MQM=36.4333;MQMR=35.8703;NS=1;NUMALT=1;ODDS=1158.02;PAIRED=0.960606;PAIREDR=0.914676;PAO=0;PQA=0;PQR=0;PRO=0;QA=9213;QR=8775;RO=293;RPL=191;RPP=20.8032;RPPR=19.3816;RPR=139;RUN=1;SAF=156;SAP=5.14229;SAR=174;SF=0;SRF=137;SRP=5.68573;SRR=156;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon141:c.G30124A:p.E10042K,TTN:NM_001256850:exon142:c.G32905A:p.E10969K,TTN:NM_001267550:exon144:c.G33856A:p.E11286K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs376874956;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=56060;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.553;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.19;MutationAssessor_pred=M;FATHMM_score=-0.34;FATHMM_pred=T;PROVEAN_score=-2.23;PROVEAN_pred=N;VEST3_score=0.34;CADD_raw=4.063;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=0.324;MetaSVM_pred=D;MetaLR_score=0.633;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.56;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.533;GDI_full_10282015=.;dpsi_max_tissue=-3.1062;dpsi_zscore=-2.179;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.3e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=9.713e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-578.849,0,-516.138:656:293:330:9213:8775 . . . . . . . . . . . . 0/1:-509.337,0,-639.102:660:342:291:8324:10309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179543217 . C T 5793.76 . AB=0.466912;ABP=8.18351;AC=40;AF=0.5;AN=76;AO=254;CIGAR=1X;DP=24646;DPB=544;DPRA=0;EPP=19.5614;EPPR=8.09333;GTI=0;LEN=1;MEANALT=3;MQM=36.9094;MQMR=37.7228;NS=1;NUMALT=1;ODDS=982.976;PAIRED=0.917323;PAIREDR=0.955056;PAO=0;PQA=0;PQR=0;PRO=0;QA=7135;QR=7989;RO=267;RPL=129;RPP=3.14709;RPPR=5.3607;RPR=125;RUN=1;SAF=146;SAP=15.3552;SAR=108;SF=0,1;SRF=148;SRP=9.85003;SRR=119;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon141:c.G30102A:p.E10034E,TTN:NM_001256850:exon142:c.G32883A:p.E10961E,TTN:NM_001267550:exon144:c.G33834A:p.E11278E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1527;esp6500siv2_ea=0.1604;esp6500siv2_all=0.1527;esp6500siv2_ea=0.1604;1000g2015aug_all=0.238419;avsnp147=rs35112591;Kaviar_AF=0.172566;Kaviar_AC=26679;Kaviar_AN=154602;ExAC_ALL=0.2599;ExAC_AFR=0.1731;ExAC_AMR=0.2890;ExAC_EAS=0.5080;ExAC_FIN=0.1627;ExAC_NFE=0.2297;ExAC_OTH=0.2511;ExAC_SAS=0.2996;CLNALLELEID=56059;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=12.3012;dpsi_zscore=3.269;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1886;gnomAD_exome_AFR=0.1345;gnomAD_exome_AMR=0.1750;gnomAD_exome_ASJ=0.2093;gnomAD_exome_EAS=0.4362;gnomAD_exome_FIN=0.1237;gnomAD_exome_NFE=0.1558;gnomAD_exome_OTH=0.1810;gnomAD_exome_SAS=0.2628;gnomAD_genome_ALL=0.1674;gnomAD_genome_AFR=0.1399;gnomAD_genome_AMR=0.1976;gnomAD_genome_ASJ=0.1656;gnomAD_genome_EAS=0.4458;gnomAD_genome_FIN=0.1179;gnomAD_genome_NFE=0.1636;gnomAD_genome_OTH=0.1708;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-437.236,0,-498.927:544:267:254:7135:7989 . . . 0/1:-493.53,0,-611.384:642:313:300:8274:9444 . . . . . . 1/1:-1161.61,-135.487,0:505:8:487:14054:205 0/1:-498.508,0,-525.624:581:267:287:7942:8366 . . . . . . 0/1:-596.281,0,-723.335:778:385:350:9865:11342 0/1:-461.675,0,-416.653:519:225:257:7252:6626 . . 0/1:-764.828,0,-852.378:906:436:426:12411:13414 . . . . . 0/1:-855.018,0,-649.46:869:355:465:13056:10900 . 0/1:-219.375,0,-244.691:293:141:137:3769:4162 . . 0/1:-605.693,0,-552.1:647:293:326:9431:8792 . . . 0/1:-488.979,0,-584.812:646:319:287:7896:9361 0/1:-260.719,0,-350.638:378:184:170:4619:5450 . 0/1:-720.116,0,-550.049:728:308:384:10981:9114 0/1:-564.54,0,-557.225:620:294:298:8676:8736 . . 0/1:-595.61,0,-581.336:674:299:339:9557:9104 0/1:-453.362,0,-609.502:627:323:272:7802:9587 . 0/1:-601.507,0,-588.029:681:314:337:9596:9559 . . . 0/1:-409.152,0,-383.052:486:221:243:6724:6497 0/1:-577.99,0,-872.127:804:431:343:9775:13083 . 0/1:-537.092,0,-530.118:619:283:303:8574:8419 . 0/1:-595.137,0,-535.795:647:294:319:9332:8516 0/1:-320.222,0,-550.086:504:284:195:5642:8450 0/1:-585.535,0,-746.838:783:390:352:9722:11553 . . . . . . . 0/1:-549.808,0,-520.636:626:285:307:8735:8439 . 0/1:-581.199,0,-699.532:729:364:337:9469:10780 . . 0/1:-483.938,0,-610.894:636:312:288:8054:9334 0/1:-593.356,0,-720.537:747:374:333:9818:11169 . . . . . 0/1:-661.985,0,-601.264:747:340:356:10575:9944 . 0/1:-667.206,0,-601.803:731:326:376:10609:9862 . 0/1:-432.196,0,-451.532:523:238:248:6959:7151 . . . . . . 0/1:-663.542,0,-949.941:826:440:351:10706:13810:440,351 . . . . 0/1:-615.819,0,-686.901:684:335:327:9810:10459:335,327 . 1/1:-1520.89,-153.852,0:622:12:594:18258:356:12,594 . 0/1:-552.456,0,-584.434:598:289:280:8645:8898:289,280 . 0/1:-662.072,0,-718.964:719:350:336:10252:10957:350,336 . . 0/1:-643.792,0,-678.956:663:324:319:9810:10184:324,319 0/1:-839.767,0,-711.092:798:356:410:12627:11085:356,410 . 0/1:-469.057,0,-544.144:516:261:242:7356:8111:261,242 chr2 179544055 . T C 9045.99 . AB=0.497169;ABP=3.07178;AC=1;AF=0.5;AN=2;AO=439;CIGAR=1X;DP=883;DPB=883;DPRA=0;EPP=6.1018;EPPR=3.41096;GTI=0;LEN=1;MEANALT=2;MQM=39.8223;MQMR=40.7722;NS=1;NUMALT=1;ODDS=2082.92;PAIRED=0.949886;PAIREDR=0.949886;PAO=0;PQA=0;PQR=0;PRO=0;QA=14020;QR=13786;RO=439;RPL=142;RPP=121.848;RPPR=118.801;RPR=297;RUN=1;SAF=263;SAP=40.4496;SAR=176;SF=1;SRF=263;SRP=40.4496;SRR=176;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0013;1000g2015aug_all=0.00359425;avsnp147=rs72650042;Kaviar_AF=0.0017658;Kaviar_AC=273;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0116;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0011;ExAC_SAS=0.0003;CLNALLELEID=56056;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4118;dpsi_zscore=-0.997;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0125;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0180;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0041;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-928.611,0,-928.79:883:439:439:14020:13786:439,439 . . . chr2 179544427 . A G 7602.49 . AB=0.497262;ABP=3.06976;AC=1;AF=0.5;AN=2;AO=454;CIGAR=1X;DP=913;DPB=913;DPRA=0;EPP=113.516;EPPR=98.0135;GTI=0;LEN=1;MEANALT=3;MQM=38.4339;MQMR=39.3566;NS=1;NUMALT=1;ODDS=1750.54;PAIRED=0.969163;PAIREDR=0.988345;PAO=0;PQA=0;PQR=0;PRO=0;QA=12241;QR=12463;RO=429;RPL=227;RPP=3.0103;RPPR=3.25832;RPR=227;RUN=1;SAF=264;SAP=29.2019;SAR=190;SF=0;SRF=253;SRP=33.0212;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0017;1000g2015aug_all=0.00599042;avsnp147=rs148392677;Kaviar_AF=0.0036351;Kaviar_AC=562;Kaviar_AN=154602;ExAC_ALL=0.0050;ExAC_AFR=0.0001;ExAC_AMR=0.0012;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=0.0020;ExAC_OTH=0.0014;ExAC_SAS=0.0252;CLNALLELEID=141485;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.6878;dpsi_zscore=1.858;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=6.615e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0223;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-782.121,0,-789.967:913:429:454:12241:12463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179544448 . G A 4970.29 . AB=0.478188;ABP=5.47325;AC=1;AF=0.5;AN=2;AO=285;CIGAR=1X;DP=596;DPB=596;DPRA=0;EPP=50.5617;EPPR=18.5334;GTI=0;LEN=1;MEANALT=3;MQM=38.1123;MQMR=37.7432;NS=1;NUMALT=1;ODDS=1144.45;PAIRED=0.964912;PAIREDR=0.976351;PAO=0;PQA=0;PQR=0;PRO=0;QA=8014;QR=8387;RO=296;RPL=147;RPP=3.62746;RPPR=3.03964;RPR=138;RUN=1;SAF=142;SAP=3.01792;SAR=143;SF=0;SRF=142;SRP=4.06669;SRR=154;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5415;dpsi_zscore=1.797;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.031e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.113e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-509.395,0,-520.166:596:296:285:8014:8387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179544685 . CTCTTCTTCTTCTTCTA CTCTTCTTCTTCTTCTTCTA,CTCTTCTTCTTCTA 4440.36 . AB=0.37561;ABP=168.318;AC=2,1;AF=0.5;AN=6;AO=462;CIGAR=1M3I16M;DP=2602;DPB=1382.06;DPRA=0;EPP=34.6142;EPPR=18.4482;GTI=0;LEN=3;MEANALT=190;MQM=38.0455;MQMR=39.4661;NS=1;NUMALT=1;ODDS=1449.56;PAIRED=0.954545;PAIREDR=0.929978;PAO=79;PQA=1886.5;PQR=1886.5;PRO=79;QA=11608;QR=14464;RO=457;RPL=262;RPP=21.0777;RPPR=42.3581;RPR=200;RUN=1;SAF=254;SAP=12.9558;SAR=208;SF=0;SRF=239;SRP=5.10575;SRR=218;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_insertion;AAChange.refGene=TTN:NM_133378:exon137:c.29783_29784insAGA:p.E9928delinsEE,TTN:NM_001256850:exon138:c.32564_32565insAGA:p.E10855delinsEE,TTN:NM_001267550:exon140:c.33515_33516insAGA:p.E11172delinsEE;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0132;esp6500siv2_ea=0.0168;esp6500siv2_all=0.0132;esp6500siv2_ea=0.0168;1000g2015aug_all=0.00459265;avsnp147=rs368327166;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;ExAC_ALL=0.0110;ExAC_AFR=0.0031;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0.0124;ExAC_NFE=0.0162;ExAC_OTH=0.0189;ExAC_SAS=0.0047;CLNALLELEID=56054;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|Paroxysmal_familial_ventricular_fibrillation_1|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:C2751898,OMIM:603829|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0113;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0.0073;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0130;gnomAD_exome_NFE=0.0181;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0053;gnomAD_genome_ALL=0.0118;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0157;gnomAD_genome_NFE=0.0173;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TTN:NM_133378:exon137:c.29781_29783del:p.9927_9928del,TTN:NM_001256850:exon138:c.32562_32564del:p.10854_10855del,TTN:NM_001267550:exon140:c.33513_33515del:p.11171_11172del;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0019;1000g2015aug_all=.;avsnp147=rs757911555;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0003;ExAC_AMR=8.767e-05;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189656;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=8.969e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-643.385,0,-863.064,.,.,.:1230:457:462,.:11608,.:14464 . . . . . . . . . . . 0/2:-436.916,.,.,0,.,-596.884:798:307:.,315:.,7875:9639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-290.83,0,-447.715,.,.,.:574:234:208,.:5395,.:7313 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179544962 . A C 6884.37 . AB=0.468864;ABP=9.90651;AC=2;AF=0.5;AN=4;AO=384;CIGAR=1X;DP=1378;DPB=819;DPRA=0;EPP=6.833;EPPR=5.25297;GTI=0;LEN=1;MEANALT=3;MQM=39.2188;MQMR=39.0117;NS=1;NUMALT=1;ODDS=1680.18;PAIRED=0.976562;PAIREDR=0.967213;PAO=0;PQA=0;PQR=0;PRO=0;QA=11540;QR=13414;RO=427;RPL=191;RPP=3.03292;RPPR=8.54832;RPR=193;RUN=1;SAF=206;SAP=7.44372;SAR=178;SF=0,1;SRF=229;SRP=7.89738;SRR=198;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.5591;dpsi_zscore=-1.741;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-738.737,0,-879.013:819:427:384:11540:13414 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-499.928,0,-656.161:559:308:246:7749:9589:308,246 . . . . . . . . . . chr2 179544983 . C G 5204.82 . AB=0.429371;ABP=33.991;AC=1;AF=0.5;AN=2;AO=307;CIGAR=1X;DP=715;DPB=715;DPRA=0;EPP=12.6935;EPPR=22.6518;GTI=0;LEN=1;MEANALT=3;MQM=38.2378;MQMR=39.1809;NS=1;NUMALT=1;ODDS=1198.45;PAIRED=0.970684;PAIREDR=0.977387;PAO=0;PQA=0;PQR=0;PRO=0;QA=8877;QR=11984;RO=398;RPL=143;RPP=6.12958;RPPR=3.03212;RPR=164;RUN=1;SAF=169;SAP=9.80765;SAR=138;SF=0;SRF=237;SRP=34.5239;SRR=161;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon136:c.G29684C:p.R9895T,TTN:NM_001256850:exon137:c.G32465C:p.R10822T,TTN:NM_001267550:exon139:c.G33416C:p.R11139T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0033;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0033;1000g2015aug_all=0.00159744;avsnp147=rs72650040;Kaviar_AF=0.0015718;Kaviar_AC=243;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0.0003;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0022;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=56053;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.095;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.34;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_pred=N;VEST3_score=0.213;CADD_raw=1.435;CADD_phred=12.97;DANN_score=0.790;fathmm-MKL_coding_score=0.295;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.017;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.55;phyloP7way_vertebrate=-0.048;phyloP20way_mammalian=-0.382;phastCons7way_vertebrate=0.532;phastCons20way_mammalian=0.934;SiPhy_29way_logOdds=4.319;GDI_full_10282015=.;dpsi_max_tissue=5.4446;dpsi_zscore=2.650;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0022;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0025;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-532.542,0,-803.142:715:398:307:8877:11984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179545859 . C T 9402.88 . AB=0.457014;ABP=17.1986;AC=55;AF=0.5;AN=90;AO=404;CIGAR=1X;DP=33072;DPB=884;DPRA=0;EPP=30.8739;EPPR=16.2417;GTI=0;LEN=1;MEANALT=3;MQM=40.1881;MQMR=40.462;NS=1;NUMALT=1;ODDS=1709.84;PAIRED=0.977723;PAIREDR=0.984816;PAO=0;PQA=0;PQR=0;PRO=0;QA=11864;QR=13758;RO=461;RPL=141;RPP=83.0108;RPPR=99.3323;RPR=263;RUN=1;SAF=163;SAP=35.7114;SAR=241;SF=0,1;SRF=201;SRP=19.407;SRR=260;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon135:c.G29555A:p.R9852H,TTN:NM_001256850:exon136:c.G32336A:p.R10779H,TTN:NM_001267550:exon138:c.G33287A:p.R11096H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2264;esp6500siv2_ea=0.3031;esp6500siv2_all=0.2264;esp6500siv2_ea=0.3031;1000g2015aug_all=0.125998;avsnp147=rs36051007;Kaviar_AF=0.234117;Kaviar_AC=36195;Kaviar_AN=154602;ExAC_ALL=0.2347;ExAC_AFR=0.0475;ExAC_AMR=0.0979;ExAC_EAS=0.0369;ExAC_FIN=0.3948;ExAC_NFE=0.3005;ExAC_OTH=0.2517;ExAC_SAS=0.2134;CLNALLELEID=56051;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.418;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.0;FATHMM_pred=T;PROVEAN_score=0.29;PROVEAN_pred=N;VEST3_score=0.059;CADD_raw=2.302;CADD_phred=18.18;DANN_score=0.845;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.023;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-2.76;phyloP7way_vertebrate=0.021;phyloP20way_mammalian=-0.704;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.834;SiPhy_29way_logOdds=4.624;GDI_full_10282015=.;dpsi_max_tissue=-4.5699;dpsi_zscore=-2.437;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2324;gnomAD_exome_AFR=0.0468;gnomAD_exome_AMR=0.1075;gnomAD_exome_ASJ=0.2039;gnomAD_exome_EAS=0.0373;gnomAD_exome_FIN=0.3791;gnomAD_exome_NFE=0.3030;gnomAD_exome_OTH=0.2315;gnomAD_exome_SAS=0.2085;gnomAD_genome_ALL=0.2327;gnomAD_genome_AFR=0.0520;gnomAD_genome_AMR=0.1283;gnomAD_genome_ASJ=0.1954;gnomAD_genome_EAS=0.0436;gnomAD_genome_FIN=0.3878;gnomAD_genome_NFE=0.3243;gnomAD_genome_OTH=0.3037;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-764.644,0,-932.47:884:461:404:11864:13758 . 0/1:-921.509,0,-871.401:941:451:467:13857:13336 . 0/1:-728.157,0,-650.001:721:335:370:10908:9936 . . . . . . . 0/1:-708.284,0,-713.763:741:361:356:10595:10741 . . 1/1:-2517.42,-274.742,0:999:9:985:29399:276 . . 0/1:-664.326,0,-766.571:740:373:359:10250:11382 . . . 0/1:-543.174,0,-562.037:577:289:279:8271:8454 . 0/1:-870.235,0,-863.975:889:437:439:13171:12895 . 1/1:-1752.79,-163.849,0:733:20:709:21017:638 . . . . . . 0/1:-287.99,0,-296.965:305:150:147:4354:4406 . 0/1:-875.454,0,-783.567:857:404:432:12974:11909 . 0/1:-993.73,0,-938.181:982:467:496:14728:14047 . . . . . . 0/1:-1175.09,0,-1011.8:1142:528:589:17396:15495 1/1:-2030.95,-225.939,0:808:6:794:23434:167 . . 0/1:-751.779,0,-505.407:665:276:376:10938:8045 0/1:-939.7,0,-757.323:877:392:460:13820:11646 . 0/1:-790.162,0,-754.299:824:405:403:11981:11446 0/1:-1037.89,0,-757.537:917:396:502:15114:11916 0/1:-841.982,0,-636.038:757:335:405:12280:9927 0/1:-715.409,0,-613.957:691:320:361:10671:9480 . . 1/1:-1282.76,-127.606,0:525:10:507:15190:316 1/1:-1439.16,-145.472,0:593:12:576:17099:357 . . 0/1:-1001.78,0,-807.173:936:416:500:14834:12473 . 0/1:-615.99,0,-757.168:699:374:311:9580:11069 0/1:-1050.09,0,-938.456:1014:476:519:15610:14196 . . . 0/1:-453.463,0,-469.33:486:240:239:6893:7042 1/1:-2027.33,-178.184,0:847:27:814:24494:849 0/1:-604.344,0,-708.248:665:349:303:9295:10397 0/1:-950.034,0,-698.318:833:357:457:13750:10851 . . 1/1:-1778.03,-189.349,0:697:7:687:20758:220 . . . . 0/1:-701.911,0,-545.205:652:283:349:10266:8483 . . . . 1/1:-1483.44,-134.042,0:627:21:595:17722:589 1/1:-1452.06,-151.577,0:594:10:575:17117:277 1/1:-1835.85,-177.086,0:744:17:720:21637:536 . 0/1:-398.707,0,-365.849:398:188:201:5909:5595 . . 0/1:-564.407,0,-666.251:644:333:302:8792:9784 0/1:-1056.8,0,-983.771:1062:486:543:15767:14812 0/1:-670.787,0,-557.791:622:283:329:9859:8599 . . . . 0/1:-758.515,0,-876.511:769:406:352:11401:12598:406,352 0/1:-285.736,0,-381.706:312:169:139:4359:5472:169,139 . 0/1:-804.533,0,-841.557:791:397:383:11984:12341:397,383 0/1:-607.081,0,-696.386:613:322:286:9059:10066:322,286 0/1:-629.578,0,-697.734:639:329:301:9536:10099:329,301 0/1:-579.929,0,-784.764:659:358:288:8887:11190:358,288 . . . . 0/1:-614.552,0,-642.554:601:305:285:9186:9411:305,285 . . . . . . chr2 179547455 . T C 8528.58 . AB=0.482477;ABP=5.29339;AC=2;AF=0.5;AN=4;AO=413;CIGAR=1X;DP=1922;DPB=856;DPRA=0;EPP=77.466;EPPR=75.3927;GTI=0;LEN=1;MEANALT=2;MQM=40.2034;MQMR=40.2801;NS=1;NUMALT=1;ODDS=1799.33;PAIRED=0.970944;PAIREDR=0.958333;PAO=0;PQA=0;PQR=0;PRO=0;QA=12450;QR=14145;RO=432;RPL=106;RPP=215.431;RPPR=278.244;RPR=307;RUN=1;SAF=254;SAP=50.462;SAR=159;SF=0;SRF=275;SRP=73.0001;SRR=157;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon132:c.A29331G:p.E9777E,TTN:NM_001256850:exon133:c.A32112G:p.E10704E,TTN:NM_001267550:exon135:c.A33063G:p.E11021E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0086;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0086;1000g2015aug_all=0.00459265;avsnp147=rs115744476;Kaviar_AF=0.0056985;Kaviar_AC=881;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0016;ExAC_AMR=0.0072;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0081;ExAC_OTH=0.0056;ExAC_SAS=0.0016;CLNALLELEID=56049;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0783;dpsi_zscore=-0.379;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0059;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0089;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=0.0090;gnomAD_exome_OTH=0.0088;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0047;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0085;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-823.736,0,-954.482:856:432:413:12450:14145 . . . . . . . 0/1:-979.133,0,-1236.28:1066:563:482:15027:17988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179548694 . GATTTTTTTTTTTTTTTTAAGAG GATTTTTTTTTTTTTTTAAGAG,GATTTTTTTTCTTTTTTTAAGAG,TTTTTTTTTTTTTTTTTTAAGAG,TATTTTTTTTTTTTTTTTAAGAG,GATTTTTTTTTTTTTTAAGAG 299.09 . AB=0.101449;ABP=288.606;AC=17,1,2,0,0;AF=0.5;AN=40;AO=21;CIGAR=2M1D20M;DP=5397;DPB=203.478;DPRA=0;EPP=3.94093;EPPR=3.08518;GTI=0;LEN=1;MEANALT=93;MQM=29.5714;MQMR=29.5172;NS=1;NUMALT=1;ODDS=41.15;PAIRED=0.904762;PAIREDR=0.965517;PAO=0;PQA=0;PQR=0;PRO=0;QA=473;QR=884;RO=29;RPL=9;RPP=3.94093;RPPR=3.08518;RPR=12;RUN=1;SAF=16;SAP=15.5221;SAR=5;SF=1;SRF=26;SRP=42.621;SRR=3;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs372078760;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;ExAC_ALL=0.4533;ExAC_AFR=0.4191;ExAC_AMR=0.4589;ExAC_EAS=0.4598;ExAC_FIN=0.4794;ExAC_NFE=0.4608;ExAC_OTH=0.4438;ExAC_SAS=0.4228;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4385;gnomAD_exome_AFR=0.4031;gnomAD_exome_AMR=0.4340;gnomAD_exome_ASJ=0.4250;gnomAD_exome_EAS=0.4317;gnomAD_exome_FIN=0.4529;gnomAD_exome_NFE=0.4476;gnomAD_exome_OTH=0.4378;gnomAD_exome_SAS=0.4183;gnomAD_genome_ALL=0.1117;gnomAD_genome_AFR=0.0324;gnomAD_genome_AMR=0.1378;gnomAD_genome_ASJ=0.1220;gnomAD_genome_EAS=0.0016;gnomAD_genome_FIN=0.3139;gnomAD_genome_NFE=0.1442;gnomAD_genome_OTH=0.1526;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000798722;avsnp147=rs72650033;Kaviar_AF=0.0017982;Kaviar_AC=278;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0002;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0031;ExAC_OTH=0.0046;ExAC_SAS=0.0012;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0964;dpsi_zscore=1.578;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0114;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0020;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0052;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.1452;dpsi_zscore=-2.187;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs757150037;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0125;ExAC_AFR=0.0056;ExAC_AMR=0.0099;ExAC_EAS=0.0061;ExAC_FIN=0.0124;ExAC_NFE=0.0141;ExAC_OTH=0.0173;ExAC_SAS=0.0149;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0175;gnomAD_exome_AFR=0.0096;gnomAD_exome_AMR=0.0189;gnomAD_exome_ASJ=0.0236;gnomAD_exome_EAS=0.0116;gnomAD_exome_FIN=0.0202;gnomAD_exome_NFE=0.0177;gnomAD_exome_OTH=0.0171;gnomAD_exome_SAS=0.0194;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0067;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0065;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0049;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-24.8144,0,-47.5001,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:207:29:21,.,.,.,.:473,.,.,.,.:884:29,21 0/1:-30.8746,0,-66.4929,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:273:39:30,.,.,.,.:621,.,.,.,.:1168:39,30 0/2:-384.79,.,.,0,.,-14.4609,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:403:33:.,174,.,.,.:.,5099,.,.,.:1015:33,174 0/1:-9.39255,0,-46.7833,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:150:23:13,.,.,.,.:252,.,.,.,.:705:23,13 0/1:-9.85901,0,-68.7706,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:243:45:21,.,.,.,.:370,.,.,.,.:1349:45,21 0/1:-27.9609,0,-170.813,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:432:94:37,.,.,.,.:847,.,.,.,.:2880:94,37 0/1:-25.7732,0,-61.7279,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:239:35:19,.,.,.,.:509,.,.,.,.:1053:35,19 0/1:-26.4091,0,-69.9549,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:284:41:22,.,.,.,.:538,.,.,.,.:1241:41,22 0/1:-30.6499,0,-101.272,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:293:56:22,.,.,.,.:626,.,.,.,.:1696:56,22 0/1:-21.0062,0,-35.6328,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:214:24:23,.,.,.,.:437,.,.,.,.:701:24,23 0/1:-19.5382,0,-93.1858,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:267:49:22,.,.,.,.:483,.,.,.,.:1507:49,22 0/1:-19.9751,0,-90.6243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:261:45:21,.,.,.,.:473,.,.,.,.:1381:45,21 0/3:-13.4989,.,.,.,.,.,0,.,.,-47.2871,.,.,.,.,.,-10.1762,.,.,-42.159,.,-61.9783:255:34:.,.,27,.,13:.,.,392,.,229:1007:34,13,27 0/1:-26.819,0,-58.3388,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:264:33:26,.,.,.,.:520,.,.,.,.:1011:33,26 0/1:-24.3754,0,-45.0166,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:248:28:23,.,.,.,.:468,.,.,.,.:854:28,23 0/1:-20.992,0,-71.6168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:265:41:23,.,.,.,.:479,.,.,.,.:1240:41,23 0/1:-28.9011,0,-92.4023,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:326:60:26,.,.,.,.:656,.,.,.,.:1785:60,26 0/1:-14.629,0,-67.3715,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:282:39:23,.,.,.,.:425,.,.,.,.:1191:39,23 0/1:-28.0048,0,-88.6247,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:273:49:29,.,.,.,.:635,.,.,.,.:1496:49,29 0/3:-21.169,-19.6939,-85.7309,.,.,.,0,-54.6316,.,-59.1157,-25.7659,-80.3946,.,-60.7033,-92.1031,.,.,.,.,.,.:218:45:12,.,35,11,.:225,.,564,146,.:1343:45,12,35,11 chr2 179548695 . ATTTTTTTTTTTTTTTTA ATTTTTTTTTTTTTTTA 329.63 . AB=0.387821;ABP=37.1136;AC=19;AF=0.5;AN=38;AO=121;CIGAR=1M1D16M;DP=5089;DPB=313.889;DPRA=0;EPP=46.0988;EPPR=43.7857;GTI=0;LEN=1;MEANALT=31;MQM=23.0992;MQMR=24.9753;NS=1;NUMALT=1;ODDS=134.943;PAIRED=0.958678;PAIREDR=0.987654;PAO=8.5;PQA=192;PQR=192;PRO=8.5;QA=2215;QR=2476;RO=81;RPL=66;RPP=5.18177;RPPR=25.5561;RPR=55;RUN=1;SAF=94;SAP=83.5701;SAR=27;SF=0;SRF=70;SRP=96.33;SRR=11;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs372078760;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;ExAC_ALL=0.4533;ExAC_AFR=0.4191;ExAC_AMR=0.4589;ExAC_EAS=0.4598;ExAC_FIN=0.4794;ExAC_NFE=0.4608;ExAC_OTH=0.4438;ExAC_SAS=0.4228;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4385;gnomAD_exome_AFR=0.4031;gnomAD_exome_AMR=0.4340;gnomAD_exome_ASJ=0.4250;gnomAD_exome_EAS=0.4317;gnomAD_exome_FIN=0.4529;gnomAD_exome_NFE=0.4476;gnomAD_exome_OTH=0.4378;gnomAD_exome_SAS=0.4183;gnomAD_genome_ALL=0.1117;gnomAD_genome_AFR=0.0324;gnomAD_genome_AMR=0.1378;gnomAD_genome_ASJ=0.1220;gnomAD_genome_EAS=0.0016;gnomAD_genome_FIN=0.3139;gnomAD_genome_NFE=0.1442;gnomAD_genome_OTH=0.1526;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-107.482,0,-82.7582:312:81:121:2215:2476 . . . 0/1:-68.9205,0,-50.1908:278:63:83:1526:1924 . . . . . . . . . 0/1:-31.2117,0,-86.7853:214:69:47:901:2123 0/1:-90.0006,0,-68.9201:333:76:100:1939:2290 . . 0/1:-24.2796,0,-133.914:284:109:57:1053:3367 . . . . . 0/1:-43.2348,0,-135.708:288:99:61:1199:3110 . 0/1:-21.4705,0,-120.856:223:93:46:904:2861 . . . . . . . . . . . . . . . . 0/1:-41.1258,0,-158.099:291:107:59:1214:3361 0/1:-100.668,0,-62.0646:385:80:121:2216:2513 . . . 0/1:-31.051,0,-102.092:243:89:54:1010:2726 . . 0/1:-48.7974,0,-54.2714:263:67:76:1355:2036 0/1:-27.868,0,-164.932:345:133:75:1343:4187 . . . . 0/1:-21.1466,0,-45.5386:169:44:43:716:1345 . . . . . . . . . . . . . 0/1:-96.7504,0,-82.5575:307:74:107:1924:2269 . . 0/1:-73.3111,0,-42.6048:264:54:95:1659:1673 . . . 0/1:-18.2448,0,-109.667:203:79:42:730:2453 . 0/1:-35.5066,0,-143.807:309:115:62:1246:3515 . . . 0/1:-61.6855,0,-59.0652:217:49:64:1186:1499 . . . 0/1:-41.0152,0,-33.6806:161:34:48:855:1004 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179548704 . T C 2657.18 . AB=0.511475;ABP=3.35916;AC=1;AF=0.5;AN=2;AO=156;CIGAR=1X;DP=305;DPB=305;DPRA=0;EPP=75.17;EPPR=121.254;GTI=0;LEN=1;MEANALT=2;MQM=37.0577;MQMR=24.5827;NS=1;NUMALT=1;ODDS=319.154;PAIRED=0.948718;PAIREDR=0.942446;PAO=0;PQA=0;PQR=0;PRO=0;QA=4484;QR=4190;RO=139;RPL=69;RPP=7.52028;RPPR=3.1509;RPR=87;RUN=1;SAF=93;SAP=15.538;SAR=63;SF=0;SRF=89;SRP=26.7715;SRR=50;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000798722;avsnp147=rs72650033;Kaviar_AF=0.0017982;Kaviar_AC=278;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0002;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0031;ExAC_OTH=0.0046;ExAC_SAS=0.0012;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0964;dpsi_zscore=1.578;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0114;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0020;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0052;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-281.996,0,-160.712:305:139:156:4484:4190 . . . . . . . . . . . . . . . . . . . . . . . . chr2 179549407 . G A 6872.46 . AB=0.467249;ABP=11.5445;AC=1;AF=0.5;AN=2;AO=428;CIGAR=1X;DP=916;DPB=916;DPRA=0;EPP=218.311;EPPR=236.24;GTI=0;LEN=1;MEANALT=3;MQM=38.3575;MQMR=38.6652;NS=1;NUMALT=1;ODDS=1582.44;PAIRED=0.981308;PAIREDR=0.958963;PAO=0;PQA=0;PQR=0;PRO=0;QA=11525;QR=13833;RO=463;RPL=226;RPP=5.93266;RPPR=3.01499;RPR=202;RUN=1;SAF=235;SAP=11.96;SAR=193;SF=0;SRF=273;SRP=35.3197;SRR=190;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon128:c.C28892T:p.P9631L,TTN:NM_001256850:exon129:c.C31673T:p.P10558L,TTN:NM_001267550:exon131:c.C32624T:p.P10875L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0059;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0059;1000g2015aug_all=0.00179712;avsnp147=rs72650031;Kaviar_AF=0.0051552;Kaviar_AC=797;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0011;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0077;ExAC_OTH=0.0068;ExAC_SAS=0.0020;CLNALLELEID=56038;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.195;MutationAssessor_pred=L;FATHMM_score=0.01;FATHMM_pred=T;PROVEAN_score=-4.2;PROVEAN_pred=D;VEST3_score=0.297;CADD_raw=2.586;CADD_phred=20.1;DANN_score=0.834;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.886;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.76;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=9.833;GDI_full_10282015=.;dpsi_max_tissue=1.1046;dpsi_zscore=1.582;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0313;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0066;gnomAD_exome_OTH=0.0054;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0040;gnomAD_genome_AFR=0.0020;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0061;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-718.938,0,-899.857:916:463:428:11525:13833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179549500 . A G 5847.71 . AB=0.496561;ABP=3.08497;AC=1;AF=0.5;AN=2;AO=361;CIGAR=1X;DP=727;DPB=727;DPRA=0;EPP=12.1594;EPPR=15.3026;GTI=0;LEN=1;MEANALT=3;MQM=37.133;MQMR=37.6784;NS=1;NUMALT=1;ODDS=1346.48;PAIRED=0.98615;PAIREDR=0.97076;PAO=0;PQA=0;PQR=0;PRO=0;QA=9503;QR=10525;RO=342;RPL=212;RPP=26.8845;RPPR=41.6397;RPR=149;RUN=1;SAF=154;SAP=19.9069;SAR=207;SF=0;SRF=143;SRP=22.9218;SRR=199;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;1000g2015aug_all=0.00599042;avsnp147=rs112303999;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.0898;dpsi_zscore=-2.176;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=6.136e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0228;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-597.533,0,-654.313:727:342:361:9503:10525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179549608 . GAG GAAG 3596.45 . AB=0.427432;ABP=31.6897;AC=1;AF=0.5;AN=2;AO=268;CIGAR=1M1I2M;DP=627;DPB=722.667;DPRA=0;EPP=6.93191;EPPR=17.8158;GTI=0;LEN=1;MEANALT=19;MQM=39.041;MQMR=40.0471;NS=1;NUMALT=1;ODDS=828.113;PAIRED=0.977612;PAIREDR=0.969697;PAO=3;PQA=32.5;PQR=32.5;PRO=3;QA=6226;QR=8791;RO=297;RPL=151;RPP=12.3768;RPPR=5.6497;RPR=117;RUN=1;SAF=174;SAP=54.8664;SAR=94;SF=0;SRF=170;SRP=16.529;SRR=127;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00599042;avsnp147=rs545003257;Kaviar_AF=0.0033505;Kaviar_AC=518;Kaviar_AN=154602;ExAC_ALL=0.0058;ExAC_AFR=0.0003;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0023;ExAC_OTH=0.0019;ExAC_SAS=0.0257;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0209;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-373.952,0,-586.542:627:297:268:6226:8791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179550069 . T C 4493.10 . AB=0.495674;ABP=3.14182;AC=3;AF=0.5;AN=6;AO=401;CIGAR=1X;DP=1562;DPB=809;DPRA=0;EPP=98.7988;EPPR=132.962;GTI=0;LEN=1;MEANALT=3;MQM=40.384;MQMR=40.9606;NS=1;NUMALT=1;ODDS=1529.44;PAIRED=0.990025;PAIREDR=0.968504;PAO=0;PQA=0;PQR=0;PRO=0;QA=11156;QR=10590;RO=381;RPL=205;RPP=3.44893;RPPR=3.28957;RPR=196;RUN=1;SAF=219;SAP=10.4236;SAR=182;SF=0;SRF=201;SRP=5.52374;SRR=180;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0237;esp6500siv2_ea=0.0089;esp6500siv2_all=0.0237;esp6500siv2_ea=0.0089;1000g2015aug_all=0.0329473;avsnp147=rs16866434;Kaviar_AF=0.00815;Kaviar_AC=1260;Kaviar_AN=154602;ExAC_ALL=0.0207;ExAC_AFR=0.0765;ExAC_AMR=0.0149;ExAC_EAS=0.0073;ExAC_FIN=0.0541;ExAC_NFE=0.0102;ExAC_OTH=0.0051;ExAC_SAS=0.0184;CLNALLELEID=56031;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0611;dpsi_zscore=1.557;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0152;gnomAD_exome_AFR=0.0691;gnomAD_exome_AMR=0.0124;gnomAD_exome_ASJ=0.0048;gnomAD_exome_EAS=0.0071;gnomAD_exome_FIN=0.0184;gnomAD_exome_NFE=0.0093;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0201;gnomAD_genome_ALL=0.0259;gnomAD_genome_AFR=0.0701;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0068;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0072;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-735.156,0,-685.648:809:381:401:11156:10590 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-273.865,0,-288.385:324:159:156:4208:4385 . . . . . . . 0/1:-385.04,0,-362.645:429:208:210:5806:5599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179550287 . G C 4153.08 . AB=0.473804;ABP=5.62695;AC=1;AF=0.5;AN=2;AO=208;CIGAR=1X;DP=439;DPB=439;DPRA=0;EPP=3.0103;EPPR=13.3366;GTI=0;LEN=1;MEANALT=2;MQM=40.8365;MQMR=41.1485;NS=1;NUMALT=1;ODDS=956.282;PAIRED=0.927885;PAIREDR=0.934498;PAO=0;PQA=0;PQR=0;PRO=0;QA=6449;QR=7324;RO=229;RPL=136;RPP=45.7716;RPPR=119.843;RPR=72;RUN=1;SAF=74;SAP=40.5935;SAR=134;SF=1;SRF=96;SRP=15.9917;SRR=133;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon125:c.C28618G:p.L9540V,TTN:NM_001256850:exon126:c.C31399G:p.L10467V,TTN:NM_001267550:exon128:c.C32350G:p.L10784V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0013;1000g2015aug_all=0.00359425;avsnp147=rs72650029;Kaviar_AF=0.0017594;Kaviar_AC=272;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0119;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0012;ExAC_SAS=0.0003;CLNALLELEID=56029;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-1.385;MutationAssessor_pred=N;FATHMM_score=-0.08;FATHMM_pred=T;PROVEAN_score=-0.85;PROVEAN_pred=N;VEST3_score=0.122;CADD_raw=1.478;CADD_phred=13.20;DANN_score=0.939;fathmm-MKL_coding_score=0.045;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.023;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.01;phyloP7way_vertebrate=-1.383;phyloP20way_mammalian=-0.087;phastCons7way_vertebrate=0.951;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=4.719;GDI_full_10282015=.;dpsi_max_tissue=-1.9608;dpsi_zscore=-1.888;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0123;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0180;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0041;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-430.836,0,-506.756:439:229:208:6449:7324:229,208 . . . chr2 179553393 . C T 5210.35 . AB=0.486772;ABP=3.872;AC=1;AF=0.5;AN=2;AO=276;CIGAR=1X;DP=567;DPB=567;DPRA=0;EPP=29.4771;EPPR=18.0245;GTI=0;LEN=1;MEANALT=3;MQM=39.558;MQMR=40.2929;NS=1;NUMALT=1;ODDS=1180.29;PAIRED=0.960145;PAIREDR=0.975;PAO=0;PQA=0;PQR=0;PRO=0;QA=8271;QR=8117;RO=280;RPL=155;RPP=12.1053;RPPR=60.3682;RPR=121;RUN=1;SAF=192;SAP=94.7786;SAR=84;SF=0;SRF=183;SRP=60.3682;SRR=97;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs369265969;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=8.678e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0022;ExAC_SAS=6.081e-05;CLNALLELEID=56026;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3009;dpsi_zscore=0.893;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.958e-05;gnomAD_exome_ASJ=0.0116;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=3.253e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-541.425,0,-533.154:567:280:276:8271:8117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179554002 . A C 8439.20 . AB=0.488043;ABP=4.15268;AC=1;AF=0.5;AN=2;AO=449;CIGAR=1X;DP=920;DPB=920;DPRA=0;EPP=3.40204;EPPR=12.8705;GTI=0;LEN=1;MEANALT=2;MQM=38.5991;MQMR=38.9485;NS=1;NUMALT=1;ODDS=1943.2;PAIRED=0.939866;PAIREDR=0.914163;PAO=0;PQA=0;PQR=0;PRO=0;QA=13520;QR=14394;RO=466;RPL=167;RPP=66.9696;RPPR=27.1668;RPR=282;RUN=1;SAF=290;SAP=86.005;SAR=159;SF=0;SRF=301;SRP=89.1982;SRR=165;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=286275;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2436;dpsi_zscore=1.658;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-866.735,0,-929.722:920:466:449:13520:14394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179554305 . C T 5410.76 . AB=0.517172;ABP=4.27809;AC=66;AF=0.5;AN=108;AO=256;CIGAR=1X;DP=23901;DPB=495;DPRA=0;EPP=8.74434;EPPR=3.98844;GTI=0;LEN=1;MEANALT=3;MQM=38.6914;MQMR=39.8243;NS=1;NUMALT=1;ODDS=951.207;PAIRED=0.988281;PAIREDR=0.972973;PAO=0;PQA=0;PQR=0;PRO=0;QA=7293;QR=6548;RO=222;RPL=158;RPP=33.5466;RPPR=20.2647;RPR=98;RUN=1;SAF=113;SAP=10.6444;SAR=143;SF=0,1;SRF=108;SRP=3.36243;SRR=114;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon120:c.G28132A:p.G9378R,TTN:NM_001256850:exon121:c.G30913A:p.G10305R,TTN:NM_001267550:exon123:c.G31864A:p.G10622R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.4335;esp6500siv2_ea=0.3605;esp6500siv2_all=0.4335;esp6500siv2_ea=0.3605;1000g2015aug_all=0.413339;avsnp147=rs2244492;Kaviar_AF=0.373372;Kaviar_AC=57724;Kaviar_AN=154602;ExAC_ALL=0.3995;ExAC_AFR=0.6112;ExAC_AMR=0.3622;ExAC_EAS=0.1783;ExAC_FIN=0.5181;ExAC_NFE=0.3697;ExAC_OTH=0.3943;ExAC_SAS=0.4653;CLNALLELEID=56024;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.801;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=-0.07;FATHMM_pred=T;PROVEAN_score=3.29;PROVEAN_pred=N;VEST3_score=0.224;CADD_raw=4.097;CADD_phred=23.7;DANN_score=0.921;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.948;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.34;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.044;phastCons7way_vertebrate=0.967;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=10.226;GDI_full_10282015=.;dpsi_max_tissue=5.5745;dpsi_zscore=2.669;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3810;gnomAD_exome_AFR=0.6075;gnomAD_exome_AMR=0.3612;gnomAD_exome_ASJ=0.2765;gnomAD_exome_EAS=0.1671;gnomAD_exome_FIN=0.4987;gnomAD_exome_NFE=0.3561;gnomAD_exome_OTH=0.3513;gnomAD_exome_SAS=0.4533;gnomAD_genome_ALL=0.4460;gnomAD_genome_AFR=0.5991;gnomAD_genome_AMR=0.3565;gnomAD_genome_ASJ=0.2848;gnomAD_genome_EAS=0.1691;gnomAD_genome_FIN=0.5072;gnomAD_genome_NFE=0.3821;gnomAD_genome_OTH=0.4276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-476.825,0,-422.043:495:222:256:7293:6548 0/1:-581.875,0,-420.105:556:228:301:8629:6685 0/1:-502.665,0,-479.797:516:246:257:7635:7416 . 0/1:-458.959,0,-394.928:493:217:243:7100:6302 . . . . . . 0/1:-355.45,0,-356.691:406:190:196:5545:5440 0/1:-454.959,0,-402.837:461:213:228:6931:6313 . . 1/1:-1274.17,-135.607,0:551:9:525:15227:285 0/1:-392.264,0,-299.9:401:173:206:5987:4856 . 0/1:-471.387,0,-505.88:539:258:247:7317:7825 . . 0/1:-554.425,0,-504.466:582:268:285:8519:7813 0/1:-358.857,0,-253.194:342:141:180:5399:4087 . 0/1:-438.67,0,-454.02:487:234:233:6794:6935 . 1/1:-1080.58,-95.1235,0:476:19:435:13093:487 . . . . . . 0/1:-127.346,0,-201.492:176:99:72:2182:2960 . 0/1:-514.998,0,-387.2:488:212:258:7691:6186 . 0/1:-587.197,0,-479.913:609:271:315:8909:7633 . 0/1:-221.605,0,-132.679:202:76:114:3329:2209 . 1/1:-848.608,-102.596,0:357:1:344:10047:14 . . 0/1:-497.604,0,-623.236:625:319:285:8017:9360 1/1:-1269.24,-135.816,0:545:9:512:15129:261 . 0/1:-259.963,0,-220.275:265:115:137:3942:3416 1/1:-950.75,-109.44,0:413:5:387:11241:97 0/1:-537.229,0,-476.558:572:253:276:8101:7460 . 0/1:-436.72,0,-391.61:459:209:229:6783:6088 0/1:-597.55,0,-509.176:602:271:311:9007:8064 0/1:-398.852,0,-404.988:440:211:203:6150:6258 0/1:-317.641,0,-284.975:331:146:169:4857:4439 . . 1/1:-618.117,-70.1465,0:279:4:255:7426:100 1/1:-924.384,-94.1127,0:429:10:389:11164:294 . . 0/1:-498.544,0,-492.886:553:255:269:7750:7600 . 0/1:-299.464,0,-323.279:339:166:154:4647:4879 0/1:-531.371,0,-513.345:564:261:273:8137:7851 . . . 0/1:-307.97,0,-308.215:332:157:159:4674:4689 1/1:-1274.11,-133.133,0:542:10:513:15402:317 0/1:-453.04,0,-294.537:416:165:234:6654:4980 0/1:-472.999,0,-357.378:457:188:242:7015:5594 . . 1/1:-934.554,-107.295,0:401:3:379:11114:86 . . . . 0/1:-312.452,0,-329.589:344:167:167:4866:5040 . . . . 1/1:-886.035,-86.861,0:400:10:363:10768:300 1/1:-820.996,-63.698,0:381:17:348:10235:524 1/1:-883.231,-96.479,0:396:7:367:10437:205 . 0/1:-343.307,0,-239.083:327:130:174:5087:3806 . . 0/1:-337.827,0,-327.908:372:176:181:5194:5119 0/1:-511.265,0,-486.536:541:252:269:7771:7473 0/1:-416.313,0,-320.286:409:175:217:6294:5069 . . 0/1:-451.337,0,-364.343:393:176:208:6546:5507:176,208 0/1:-491.233,0,-516.292:485:238:239:7389:7595:238,239 0/1:-532.156,0,-634.005:569:297:256:8050:9157:297,256 0/1:-224.196,0,-208.917:211:98:105:3317:3119:98,105 . 0/1:-546.04,0,-523.271:523:249:261:8186:7860:249,261 0/1:-489.369,0,-449.151:471:225:233:7291:6881:225,233 0/1:-445.776,0,-507.661:479:241:216:6741:7411:241,216 0/1:-467.394,0,-434.141:441:207:217:6888:6539:207,217 . . . . 0/1:-459.757,0,-478.109:458:224:219:6864:7077:224,219 . . . . . . chr2 179554339 . T C 3107.00 . AB=0.457746;ABP=9.61647;AC=2;AF=0.5;AN=4;AO=195;CIGAR=1X;DP=757;DPB=426;DPRA=0;EPP=4.89224;EPPR=4.03458;GTI=0;LEN=1;MEANALT=3;MQM=39.4513;MQMR=38.4811;NS=1;NUMALT=1;ODDS=834.974;PAIRED=0.989744;PAIREDR=0.995283;PAO=0;PQA=0;PQR=0;PRO=0;QA=5765;QR=6266;RO=212;RPL=104;RPP=4.89224;RPPR=32.8783;RPR=91;RUN=1;SAF=90;SAP=5.51585;SAR=105;SF=0;SRF=100;SRP=4.48526;SRR=112;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0056;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0056;1000g2015aug_all=0.00139776;avsnp147=rs72650025;Kaviar_AF=0.0025938;Kaviar_AC=401;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0008;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0050;ExAC_OTH=0.0043;ExAC_SAS=0.0002;CLNALLELEID=141484;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=11.4112;dpsi_zscore=3.213;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0028;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0049;gnomAD_exome_OTH=0.0019;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0031;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-370.537,0,-404.188:426:212:195:5765:6266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-268.369,0,-345.342:331:175:149:4246:5172 . . . . . . . . . . . . . . . . . . . . . . chr2 179554549 . G C 5620.07 . AB=0.475291;ABP=6.65888;AC=1;AF=0.5;AN=2;AO=327;CIGAR=1X;DP=688;DPB=688;DPRA=0;EPP=6.52317;EPPR=32.108;GTI=0;LEN=1;MEANALT=3;MQM=39.6942;MQMR=40.4776;NS=1;NUMALT=1;ODDS=1294.07;PAIRED=0.984709;PAIREDR=0.985075;PAO=0;PQA=0;PQR=0;PRO=0;QA=9075;QR=9631;RO=335;RPL=130;RPP=32.8199;RPPR=49.8428;RPR=197;RUN=1;SAF=210;SAP=60.4447;SAR=117;SF=0;SRF=211;SRP=52.0726;SRR=124;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon119:c.C28105G:p.P9369A,TTN:NM_001256850:exon120:c.C30886G:p.P10296A,TTN:NM_001267550:exon122:c.C31837G:p.P10613A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000599042;avsnp147=rs200213832;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=56023;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.944;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.572;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_pred=M;FATHMM_score=-0.67;FATHMM_pred=T;PROVEAN_score=-4.05;PROVEAN_pred=D;VEST3_score=0.342;CADD_raw=1.700;CADD_phred=14.41;DANN_score=0.981;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.209;MetaSVM_pred=T;MetaLR_score=0.371;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.972;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.896;GDI_full_10282015=.;dpsi_max_tissue=3.5186;dpsi_zscore=2.341;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-578.752,0,-634.673:688:335:327:9075:9631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179554624 . C T 4953.05 . AB=0.438253;ABP=24.9997;AC=1;AF=0.5;AN=2;AO=291;CIGAR=1X;DP=664;DPB=664;DPRA=0;EPP=123.367;EPPR=48.6359;GTI=0;LEN=1;MEANALT=3;MQM=39.4674;MQMR=38.6335;NS=1;NUMALT=1;ODDS=1140.48;PAIRED=0.989691;PAIREDR=0.96875;PAO=0;PQA=0;PQR=0;PRO=0;QA=8301;QR=10938;RO=352;RPL=146;RPP=3.01776;RPPR=14.9534;RPR=145;RUN=1;SAF=110;SAP=40.6268;SAR=181;SF=0;SRF=153;SRP=16.0638;SRR=199;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=TTN;GeneDetail.refGene=NM_001267550:exon122:c.31763-1G>A,NM_001256850:exon120:c.30812-1G>A,NM_133378:exon119:c.28031-1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs202234172;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0001;ExAC_AMR=8.64e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56020;CLNDN=Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=5.453;CADD_phred=26.1;DANN_score=0.992;fathmm-MKL_coding_score=0.891;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.075;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.284;GDI_full_10282015=.;dpsi_max_tissue=-21.1758;dpsi_zscore=-3.213;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS161164#"Cardiomyopathy";gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-520.247,0,-724.884:664:352:291:8301:10938 . . . . . . . . . . . . . . . . . . . . . . chr2 179558366 . T C 7358.10 . AB=0.470856;ABP=11.1108;AC=53;AF=0.5;AN=94;AO=517;CIGAR=1X;DP=38005;DPB=1098;DPRA=0;EPP=128.716;EPPR=241.5;GTI=0;LEN=1;MEANALT=2;MQM=39.3578;MQMR=39.4929;NS=1;NUMALT=1;ODDS=2091.97;PAIRED=0.978723;PAIREDR=0.989286;PAO=0;PQA=0;PQR=0;PRO=0;QA=14628;QR=16794;RO=560;RPL=245;RPP=6.0722;RPPR=16.0546;RPR=272;RUN=1;SAF=309;SAP=45.8559;SAR=208;SF=0,1;SRF=347;SRP=72.637;SRR=213;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon116:c.A27832G:p.I9278V,TTN:NM_001256850:exon117:c.A30613G:p.I10205V,TTN:NM_001267550:exon119:c.A31564G:p.I10522V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3297;esp6500siv2_ea=0.2286;esp6500siv2_all=0.3297;esp6500siv2_ea=0.2286;1000g2015aug_all=0.477835;avsnp147=rs2042995;Kaviar_AF=0.327027;Kaviar_AC=50559;Kaviar_AN=154602;ExAC_ALL=0.3536;ExAC_AFR=0.5674;ExAC_AMR=0.4494;ExAC_EAS=0.5761;ExAC_FIN=0.2636;ExAC_NFE=0.2457;ExAC_OTH=0.3235;ExAC_SAS=0.5004;CLNALLELEID=56017;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.095;MutationAssessor_pred=N;FATHMM_score=0.18;FATHMM_pred=T;PROVEAN_score=0.57;PROVEAN_pred=N;VEST3_score=0.149;CADD_raw=1.533;CADD_phred=13.49;DANN_score=0.713;fathmm-MKL_coding_score=0.108;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.002;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.85;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.066;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=9.311;GDI_full_10282015=.;dpsi_max_tissue=-0.2432;dpsi_zscore=-0.764;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3362;gnomAD_exome_AFR=0.5576;gnomAD_exome_AMR=0.4319;gnomAD_exome_ASJ=0.2672;gnomAD_exome_EAS=0.5716;gnomAD_exome_FIN=0.2530;gnomAD_exome_NFE=0.2271;gnomAD_exome_OTH=0.3001;gnomAD_exome_SAS=0.4793;gnomAD_genome_ALL=0.3459;gnomAD_genome_AFR=0.5499;gnomAD_genome_AMR=0.4233;gnomAD_genome_ASJ=0.2417;gnomAD_genome_EAS=0.5661;gnomAD_genome_FIN=0.2424;gnomAD_genome_NFE=0.2289;gnomAD_genome_OTH=0.2888;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-934.283,0,-1107.29:1098:560:517:14628:16794 . . . . . . 0/1:-582.498,0,-656.317:692:341:339:9146:10041 . . 0/1:-716.742,0,-904.088:903:456:420:11440:13544 0/1:-649.526,0,-980.574:904:488:397:10617:14428 . . . 0/1:-732.379,0,-796.836:842:410:417:11446:12189 . . 1/1:-1463.03,-185.213,0:649:3:632:17293:67 0/1:-497.063,0,-768.667:703:377:303:8155:11354 0/1:-838.999,0,-1290.33:1155:623:498:13507:18949 . . . . . 0/1:-761.94,0,-1149.85:1062:581:460:12596:16987 0/1:-440.271,0,-687.976:634:351:270:7355:10128 . . 0/1:-1014.95,0,-1456.34:1341:716:601:16469:21641 0/1:-629.817,0,-1154.01:982:566:394:10470:16624 . . . . 0/1:-960.026,0,-1548.55:1368:763:574:15679:22664 . 1/1:-892.515,-102.193,0:382:3:367:10521:104 . 1/1:-1581.27,-187.493,0:715:10:687:18484:253 0/1:-687.896,0,-1033.79:936:501:418:11129:15021 . . . 0/1:-651.54,0,-998.694:892:489:386:10577:14748 1/1:-1118.3,-136.171,0:481:2:464:12883:46 0/1:-796.332,0,-874.303:891:444:438:12241:13164 0/1:-832.961,0,-1008.63:996:509:467:13052:14947 0/1:-861.977,0,-921.501:976:478:484:13222:14081 . . 0/1:-720.15,0,-915.05:905:459:426:11519:13764 0/1:-541.067,0,-756.282:728:393:326:8890:11411 . 0/1:-758.036,0,-1073.49:996:534:442:12205:16152 . . . 0/1:-520.625,0,-708.091:701:364:320:8646:10787 0/1:-1017.66,0,-1126.38:1189:587:582:15902:17201 . 0/1:-557.23,0,-864.608:796:438:342:9200:12805 . 0/1:-704.945,0,-901.53:875:449:405:11118:13274 0/1:-486.598,0,-645.394:649:341:292:7882:9746 0/1:-649.604,0,-1116.69:971:542:409:10869:16281 . . . . . . . 0/1:-724.741,0,-1075.69:997:550:423:11821:16073 . 0/1:-861.495,0,-1087.16:1065:553:494:13675:16244 . . 0/1:-781.186,0,-1118.44:1018:551:453:12531:16649 0/1:-856.932,0,-994.167:995:503:476:13398:14898 . . . . . 0/1:-652.788,0,-1235.73:1054:606:422:11293:17866 . 1/1:-2181.47,-240.727,0:1012:21:961:26002:666 . 0/1:-570.969,0,-789.818:755:408:336:9220:11990 . . . . 0/1:-434.761,0,-470.522:436:218:211:6514:6908:218,211 0/1:-434.79,0,-576.522:483:261:218:6778:8340:261,218 0/1:-455.907,0,-733.369:561:318:236:7196:10426:318,236 . . . . 0/1:-519.98,0,-615.653:532:275:252:7858:8910:275,252 . 1/1:-992.683,-84.9917,0:408:14:388:11869:421:14,388 . 0/1:-460.561,0,-534.267:470:244:217:6932:7783:244,217 . 0/1:-501.322,0,-512.479:476:234:239:7385:7512:234,239 . . 0/1:-491.4,0,-546.286:494:248:238:7368:8019:248,238 0/1:-360.607,0,-592.927:452:259:186:5736:8390:259,186 . 0/1:-385.209,0,-397.011:385:189:191:5817:5901:189,191 chr2 179559353 . C T 8572.82 . AB=0.468615;ABP=10.916;AC=1;AF=0.5;AN=2;AO=433;CIGAR=1X;DP=924;DPB=924;DPRA=0;EPP=56.2139;EPPR=55.7771;GTI=0;LEN=1;MEANALT=3;MQM=40.8522;MQMR=41.1063;NS=1;NUMALT=1;ODDS=1973.96;PAIRED=0.983834;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13448;QR=14976;RO=480;RPL=215;RPP=3.05543;RPPR=3.08268;RPR=218;RUN=1;SAF=330;SAP=261.426;SAR=103;SF=0;SRF=350;SRP=221.967;SRR=130;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon114:c.G27667A:p.V9223I,TTN:NM_001256850:exon115:c.G30448A:p.V10150I,TTN:NM_001267550:exon117:c.G31399A:p.V10467I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0028;1000g2015aug_all=0.000399361;avsnp147=rs72650019;Kaviar_AF=0.0013001;Kaviar_AC=201;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0008;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0049;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=56013;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.214;SIFT_pred=T;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.53;FATHMM_pred=T;PROVEAN_score=-0.51;PROVEAN_pred=N;VEST3_score=0.102;CADD_raw=2.938;CADD_phred=22.0;DANN_score=0.999;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.238;MetaSVM_pred=T;MetaLR_score=0.367;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=17.576;GDI_full_10282015=.;dpsi_max_tissue=4.5468;dpsi_zscore=2.522;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-898.108,0,-1029.15:924:480:433:13448:14976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179563637 . G T 72.37 . AB=0.358079;ABP=43.0735;AC=1;AF=0.5;AN=2;AO=82;CIGAR=1X;DP=229;DPB=229;DPRA=0;EPP=111.478;EPPR=20.5268;GTI=0;LEN=1;MEANALT=3;MQM=26.1463;MQMR=28.9852;NS=1;NUMALT=1;ODDS=16.6648;PAIRED=0.926829;PAIREDR=0.97037;PAO=0;PQA=0;PQR=0;PRO=0;QA=1428;QR=3359;RO=135;RPL=25;RPP=30.1272;RPPR=6.62942;RPR=57;RUN=1;SAF=18;SAP=59.0449;SAR=64;SF=0;SRF=104;SRP=88.7272;SRR=31;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon109:c.C26955A:p.T8985T,TTN:NM_001256850:exon110:c.C29736A:p.T9912T,TTN:NM_001267550:exon112:c.C30687A:p.T10229T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=488977;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8393;dpsi_zscore=-2.117;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.892e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.198e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-37.271,0,-171.394:229:135:82:1428:3359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179563643 . TAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG AAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG,TAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG 190.66 . AB=0,0;ABP=0,0;AC=19,0;AF=0,0;AN=38;AO=14,20;CIGAR=1M1D39M,1X40M;DP=5650;DPB=217.39;DPRA=0,0;EPP=25.3454,24.2907;EPPR=4.9405;GTI=0;LEN=1,1;MEANALT=126,126;MQM=35.9286,28.95;MQMR=32.6667;NS=1;NUMALT=2;ODDS=36.752;PAIRED=0.928571,0.9;PAIREDR=0.944444;PAO=17.8333,6.33333;PQA=321,122;PQR=389;PRO=20.8333;QA=245,279;QR=564;RO=18;RPL=2,3;RPP=18.5208,24.2907;RPPR=4.9405;RPR=12,17;RUN=1,1;SAF=1,0;SAP=25.3454,46.4397;SAR=13,20;SF=1;SRF=0;SRP=42.0968;SRR=18;TYPE=del,snp;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=TTN;GeneDetail.refGene=NM_001267550:exon112:c.30683-2A>T,NM_001256850:exon110:c.29732-2A>T,NM_133378:exon109:c.26951-2A>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=272661;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=5.133;CADD_phred=25.4;DANN_score=0.987;fathmm-MKL_coding_score=0.900;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.061;integrated_confidence_value=0;GERP++_RS=5.57;phyloP7way_vertebrate=0.938;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.780;phastCons20way_mammalian=0.949;SiPhy_29way_logOdds=13.280;GDI_full_10282015=.;dpsi_max_tissue=-22.5096;dpsi_zscore=-3.233;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0059;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0021;gnomAD_genome_FIN=0.0248;gnomAD_genome_NFE=0.0061;gnomAD_genome_OTH=0.0126;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs368277751;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;ExAC_ALL=0.3475;ExAC_AFR=0.2323;ExAC_AMR=0.3611;ExAC_EAS=0.3926;ExAC_FIN=0.3437;ExAC_NFE=0.3114;ExAC_OTH=0.3652;ExAC_SAS=0.4068;CLNALLELEID=284061;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3527;gnomAD_exome_AFR=0.3040;gnomAD_exome_AMR=0.3562;gnomAD_exome_ASJ=0.4004;gnomAD_exome_EAS=0.3528;gnomAD_exome_FIN=0.3506;gnomAD_exome_NFE=0.3336;gnomAD_exome_OTH=0.3553;gnomAD_exome_SAS=0.4019;gnomAD_genome_ALL=0.0174;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0956;gnomAD_genome_ASJ=0.0786;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1901;gnomAD_genome_NFE=0.0173;gnomAD_genome_OTH=0.0314;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,-4.50743,-11.2633,-10.9704,-28.1783,-25.7767:211:18:20,14:279,245:564:18,14,20 0/1:-25.689,0,-25.8009,.,.,.:327:32:30,.:428,.:1024:32,30 0/1:-36.0915,0,-119.541,.,.,.:338:31:30,.:445,.:987:31,30 0/1:-10.4795,0,-8.66458,.,.,.:139:13:8,.:106,.:421:13,8 0/1:-38.1825,0,-24.8438,.,.,.:264:30:21,.:307,.:922:30,21 0/1:-93.1432,0,-22.5581,.,.,.:461:43:37,.:533,.:1342:43,37 . 1/1:-25.342,-18.5317,0,.,.,.:357:15:25,.:352,.:468:15,25 0/1:-20.0774,0,-86.7391,.,.,.:264:25:17,.:209,.:804:25,17 0/1:-34.9022,0,-16.5579,.,.,.:213:20:14,.:248,.:628:20,14 0/1:-45.0066,0,-141.921,.,.,.:328:48:32,.:413,.:1522:48,32 0/1:-26.6361,0,-45.0542,.,.,.:317:41:16,.:239,.:1295:41,16 0/1:-29.6477,0,-112.849,.,.,.:284:31:20,.:324,.:973:31,20 0/1:-10.2718,0,-18.0342,-31.8299,-51.453,-67.7431:336:32:30,19:447,357:1000:32,19,30 0/1:-1.39022,0,-29.5824,-15.7042,-47.9689,-54.7757:295:32:26,16:353,282:967:32,16,26 0/1:-60.2109,0,-116.313,.,.,.:322:35:27,.:370,.:1090:35,27 0/1:-52.3233,0,-20.8247,.,.,.:356:29:26,.:395,.:915:29,26 0/1:-26.6234,0,-110.039,.,.,.:284:24:22,.:337,.:776:24,22 0/1:-27.3629,0,-16.9001,.,.,.:339:39:32,.:522,.:1240:39,32 0/1:-29.1231,0,-40.6223,.,.,.:215:14:18,.:248,.:451:14,18 chr2 179563659 . G A 155.06 . AB=0.353135;ABP=59.7767;AC=1;AF=0.5;AN=2;AO=107;CIGAR=1X;DP=303;DPB=303;DPRA=0;EPP=156.617;EPPR=101.266;GTI=0;LEN=1;MEANALT=3;MQM=21.6168;MQMR=27.7724;NS=1;NUMALT=1;ODDS=35.7047;PAIRED=0.869159;PAIREDR=0.951724;PAO=0;PQA=0;PQR=0;PRO=0;QA=1920;QR=3373;RO=145;RPL=68;RPP=20.0777;RPPR=87.2485;RPR=39;RUN=1;SAF=78;SAP=51.7365;SAR=29;SF=0;SRF=41;SRP=62.4487;SRR=104;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs587780977;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0064;ExAC_AFR=0.0045;ExAC_AMR=0.0133;ExAC_EAS=0.0046;ExAC_FIN=0;ExAC_NFE=0.0097;ExAC_OTH=0.0182;ExAC_SAS=0.0040;CLNALLELEID=141481;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7030;dpsi_zscore=-1.272;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0518;gnomAD_exome_AFR=0.0521;gnomAD_exome_AMR=0.0397;gnomAD_exome_ASJ=0.0181;gnomAD_exome_EAS=0.1518;gnomAD_exome_FIN=0.0171;gnomAD_exome_NFE=0.0687;gnomAD_exome_OTH=0.0455;gnomAD_exome_SAS=0.0137;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0004;gnomAD_genome_AMR=0.0017;gnomAD_genome_ASJ=0.0122;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0025;gnomAD_genome_NFE=0.0062;gnomAD_genome_OTH=0.0015;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-47.6617,0,-158.322:303:145:107:1920:3373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179563669 . G A 645.33 . AB=0.415816;ABP=27.1402;AC=1;AF=0.5;AN=2;AO=163;CIGAR=1X;DP=392;DPB=392;DPRA=0;EPP=314.863;EPPR=252.286;GTI=0;LEN=1;MEANALT=3;MQM=25.6135;MQMR=29.352;NS=1;NUMALT=1;ODDS=148.592;PAIRED=0.852761;PAIREDR=0.933673;PAO=0;PQA=0;PQR=0;PRO=0;QA=3410;QR=5025;RO=196;RPL=85;RPP=3.66307;RPPR=157.273;RPR=78;RUN=1;SAF=90;SAP=6.86033;SAR=73;SF=0;SRF=34;SRP=184.528;SRR=162;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747902941;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0005;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0029;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6905;dpsi_zscore=-1.262;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0.0018;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0043;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0015;gnomAD_genome_ASJ=0.0075;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-111.537,0,-233.586:392:196:163:3410:5025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179563702 . CTTTC TTTTC,ATTTC,ATTTA 2233.24 . AB=0.495951;ABP=3.08063;AC=9,17,1;AF=0.5;AN=54;AO=245;CIGAR=1X;DP=10625;DPB=494;DPRA=0;EPP=89.8781;EPPR=9.8888;GTI=0;LEN=1;MEANALT=3;MQM=26.8449;MQMR=31.2156;NS=1;NUMALT=1;ODDS=446.857;PAIRED=0.946939;PAIREDR=0.91018;PAO=0;PQA=0;PQR=0;PRO=0;QA=6472;QR=5115;RO=167;RPL=138;RPP=11.5278;RPPR=3.33537;RPR=107;RUN=1;SAF=81;SAP=64.0686;SAR=164;SF=0,1;SRF=11;SRP=276.395;SRR=156;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00938498;avsnp147=rs116053231;Kaviar_AF=0.0161365;Kaviar_AC=420;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5140;dpsi_zscore=-1.105;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0163;gnomAD_genome_AFR=0.0039;gnomAD_genome_AMR=0.0052;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0191;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0156;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1394;dpsi_zscore=-1.549;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-236.7,.,.,.,.,.,.,.:494:167:245,.,.:6472,.,.:5115 0/1:.,.,-242.91,.,.,.,.,.,.,.:514:182:248,.,.:6143,.,.:5506 . . . . . . . . 0/1:.,.,-236.601,.,.,.,.,.,.,.:448:177:206,.,.:5316,.,.:5183 . . . 0/1:.,.,-249.454,.,.,.,.,.,.,.:517:185:243,.,.:6123,.,.:5374 . . . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-215.909,.,.,.,.,.,.,.:448:162:218,.,.:5750,.,.:4942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-264.43,.,.,.,.,.,.,.:558:198:281,.,.:7015,.,.:5795 . . . . . . . . . . . . . . . 0/1:.,.,-196.485,.,.,.,.,.,.,.:402:153:189,.,.:4623,.,.:4409 . . . . . . . . . . . . 0/2:.,.,.,.,.,-352.884,.,.,.,.:268:191:.,66,.:.,1288,.:6014:191,66 0/2:.,.,.,.,.,-522.515,.,.,.,.:402:286:.,106,.:.,2078,.:8989:286,106 0/2:.,.,.,.,.,-462.615,.,.,.,.:403:273:.,110,.:.,2263,.:8416:273,110 0/3:-4.77812,.,.,-23.6916,.,-221.139,0,.,-189.585,-192.643:151:92:.,8,24:.,148,524:2813:92,24,8 0/2:.,.,.,.,.,-389.063,.,.,.,.:304:213:.,73,.:.,1425,.:6504:213,73 0/2:.,.,.,.,.,-728.009,.,.,.,.:565:425:.,116,.:.,2340,.:12787:425,116 0/2:.,.,.,.,.,-444.855,.,.,.,.:355:253:.,86,.:.,1707,.:7616:253,86 0/2:.,.,.,.,.,-544.167,.,.,.,.:435:311:.,105,.:.,2035,.:9380:311,105 0/2:.,.,.,.,.,-415.273,.,.,.,.:339:232:.,90,.:.,1755,.:7117:232,90 0/2:.,.,.,.,.,-370.104,.,.,.,.:287:210:.,63,.:.,1204,.:6506:210,63 0/2:.,.,.,.,.,-529.389,.,.,.,.:397:288:.,93,.:.,1817,.:9056:288,93 0/2:.,.,.,.,.,-481.738,.,.,.,.:375:265:.,89,.:.,1752,.:8201:265,89 0/1:.,.,-162.7,.,.,.,.,.,.,.:345:117:172,.,.:4609,.,.:3636:117,172 0/2:.,.,.,.,.,-469.91,.,.,.,.:398:276:.,107,.:.,2192,.:8288:276,107 0/1:.,.,-187.319,.,.,.,.,.,.,.:383:133:191,.,.:5264,.,.:4145:133,191 0/2:.,.,.,.,.,-479.816,.,.,.,.:404:285:.,106,.:.,2082,.:8867:285,106 0/2:.,.,.,.,.,-479.046,.,.,.,.:409:285:.,108,.:.,2159,.:8546:285,108 0/2:.,.,.,.,.,-438.829,.,.,.,.:353:244:.,97,.:.,1924,.:7508:244,97 0/2:.,.,.,.,.,-541.909,.,.,.,.:406:292:.,98,.:.,1905,.:9162:292,98 0/2:.,.,.,.,.,-295.157,.,.,.,.:265:183:.,73,.:.,1450,.:5513:183,73 chr2 179566802 . TAAAAAAAAAATGATAT TAAAAAAAAAAATGATAT,TAAAAAAAAATGATAT 3474.82 . AB=0.365706;ABP=106.243;AC=5,0;AF=0.5;AN=22;AO=241;CIGAR=1M1I11M;DP=6084;DPB=692;DPRA=0;EPP=68.1094;EPPR=29.4339;GTI=0;LEN=1;MEANALT=71;MQM=35.5436;MQMR=39.6592;NS=1;NUMALT=1;ODDS=535.065;PAIRED=0.975104;PAIREDR=0.981273;PAO=12;PQA=254.5;PQR=254.5;PRO=12;QA=5144;QR=8238;RO=267;RPL=185;RPP=152.95;RPPR=73.3514;RPR=56;RUN=1;SAF=52;SAP=172.124;SAR=189;SF=0,1;SRF=68;SRP=142.578;SRR=199;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0800;esp6500siv2_ea=0.0286;esp6500siv2_all=0.0800;esp6500siv2_ea=0.0286;1000g2015aug_all=0.130192;avsnp147=rs397517532;Kaviar_AF=0.0024062;Kaviar_AC=372;Kaviar_AN=154602;ExAC_ALL=0.1083;ExAC_AFR=0.2344;ExAC_AMR=0.2578;ExAC_EAS=0.0414;ExAC_FIN=0.0672;ExAC_NFE=0.0432;ExAC_OTH=0.1046;ExAC_SAS=0.2192;CLNALLELEID=56003;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1070;gnomAD_exome_AFR=0.2233;gnomAD_exome_AMR=0.2438;gnomAD_exome_ASJ=0.0488;gnomAD_exome_EAS=0.0429;gnomAD_exome_FIN=0.0716;gnomAD_exome_NFE=0.0395;gnomAD_exome_OTH=0.0905;gnomAD_exome_SAS=0.2143;gnomAD_genome_ALL=0.0834;gnomAD_genome_AFR=0.1883;gnomAD_genome_AMR=0.1775;gnomAD_genome_ASJ=0.0324;gnomAD_genome_EAS=0.0330;gnomAD_genome_FIN=0.0648;gnomAD_genome_NFE=0.0274;gnomAD_genome_OTH=0.0670;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0081;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0081;1000g2015aug_all=.;avsnp147=rs775270262;Kaviar_AF=0.0105885;Kaviar_AC=1637;Kaviar_AN=154602;ExAC_ALL=0.0149;ExAC_AFR=0.0076;ExAC_AMR=0.0104;ExAC_EAS=0.0116;ExAC_FIN=0.0021;ExAC_NFE=0.0190;ExAC_OTH=0.0147;ExAC_SAS=0.0148;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0032;gnomAD_exome_EAS=0.0027;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=0.0033;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0007;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:.,.,-533.611,.,.,.:659:267:241,.:5144,.:8238 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-28.3194,.,.,.:663:75:436,.:9951,.:2269 . . . . . . 0/1:.,.,-895.311,.,.,.:815:417:250,.:5960,.:12981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-133.932,0,-435.673,.,.,.:408:193:115,.:2589,.:6047:193,115 0/1:-204.809,0,-506.535,.,.,.:528:236:164,.:3776,.:7358:236,164 . 0/0:0,.,.,-37.274,.,-599.797:344:236:.,18:.,462:7381:236,18 . 0/0:0,.,.,-83.9956,.,-1288.59:707:503:.,41:.,927:15624:503,41 0/0:0,.,.,-58.8847,.,-996.555:551:387:.,33:.,800:12112:387,33 . 0/0:0,.,.,-53.4933,.,-995.721:529:389:.,28:.,842:12207:389,28 0/0:0,-58.3415,-853.765,.,.,.:476:329:25,.:548,.:10333:329,25 . . . . . . . . . 0/0:0,.,.,-44.4108,.,-739.266:404:286:.,22:.,553:8971:286,22 chr2 179567225 . C T 3981.42 . AB=0.495098;ABP=3.09546;AC=1;AF=0.5;AN=2;AO=202;CIGAR=1X;DP=408;DPB=408;DPRA=0;EPP=5.76226;EPPR=23.1864;GTI=0;LEN=1;MEANALT=3;MQM=39.5941;MQMR=40.4975;NS=1;NUMALT=1;ODDS=916.756;PAIRED=0.945545;PAIREDR=0.954774;PAO=0;PQA=0;PQR=0;PRO=0;QA=6199;QR=6167;RO=199;RPL=72;RPP=39.1728;RPPR=23.1864;RPR=130;RUN=1;SAF=91;SAP=7.31025;SAR=111;SF=1;SRF=104;SRP=3.89417;SRR=95;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon104:c.G26657A:p.R8886H,TTN:NM_001256850:exon105:c.G29438A:p.R9813H,TTN:NM_001267550:exon107:c.G30389A:p.R10130H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs373355159;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=199449;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.039;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.76;MutationAssessor_pred=L;FATHMM_score=3.55;FATHMM_pred=T;PROVEAN_score=-3.42;PROVEAN_pred=D;VEST3_score=0.434;CADD_raw=4.387;CADD_phred=24.1;DANN_score=0.998;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.124;MetaSVM_pred=T;MetaLR_score=0.457;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.73;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=19.897;GDI_full_10282015=.;dpsi_max_tissue=-1.8810;dpsi_zscore=-1.861;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.543e-05;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.493e-05;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-409.652,0,-414.737:408:199:202:6199:6167:199,202 . . . . . . . . . . . . . . . . . . chr2 179567230 . A G 5837.40 . AB=0.50899;ABP=3.51788;AC=1;AF=0.5;AN=2;AO=368;CIGAR=1X;DP=723;DPB=723;DPRA=0;EPP=55.1492;EPPR=54.1409;GTI=0;LEN=1;MEANALT=3;MQM=38.9538;MQMR=39.0552;NS=1;NUMALT=1;ODDS=1344.11;PAIRED=0.975543;PAIREDR=0.97093;PAO=0;PQA=0;PQR=0;PRO=0;QA=9558;QR=10473;RO=344;RPL=122;RPP=93.7401;RPPR=71.2854;RPR=246;RUN=1;SAF=181;SAP=3.22273;SAR=187;SF=0;SRF=163;SRP=5.05552;SRR=181;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon104:c.T26652C:p.D8884D,TTN:NM_001256850:exon105:c.T29433C:p.D9811D,TTN:NM_001267550:exon107:c.T30384C:p.D10128D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs188584219;Kaviar_AF=0.0036545;Kaviar_AC=565;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0233;CLNALLELEID=55998;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2916;dpsi_zscore=1.681;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0221;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-606.089,0,-668.298:723:344:368:9558:10473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179567340 . G A 6145.20 . AB=0.461818;ABP=9.9748;AC=4;AF=0.5;AN=8;AO=254;CIGAR=1X;DP=2531;DPB=550;DPRA=0;EPP=11.7646;EPPR=41.6901;GTI=0;LEN=1;MEANALT=3;MQM=39.4528;MQMR=39.4276;NS=1;NUMALT=1;ODDS=1104.61;PAIRED=0.964567;PAIREDR=0.946996;PAO=0;PQA=0;PQR=0;PRO=0;QA=7610;QR=9048;RO=283;RPL=154;RPP=27.9395;RPPR=21.4333;RPR=100;RUN=1;SAF=119;SAP=5.19887;SAR=135;SF=0,1;SRF=127;SRP=9.46333;SRR=156;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon104:c.C26542T:p.H8848Y,TTN:NM_001256850:exon105:c.C29323T:p.H9775Y,TTN:NM_001267550:exon107:c.C30274T:p.H10092Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0041;1000g2015aug_all=0.00119808;avsnp147=rs72650011;Kaviar_AF=0.0039391;Kaviar_AC=609;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0004;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0115;ExAC_NFE=0.0053;ExAC_OTH=0.0067;ExAC_SAS=0.0028;CLNALLELEID=55997;CLNDN=Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.077;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.93;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-3.43;PROVEAN_pred=D;VEST3_score=0.739;CADD_raw=2.770;CADD_phred=21.2;DANN_score=0.937;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.826;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.84;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.307;GDI_full_10282015=.;dpsi_max_tissue=0.3293;dpsi_zscore=0.932;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM116750#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0039;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0097;gnomAD_exome_NFE=0.0054;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=0.0059;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0109;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:-491.025,0,-608.02:550:283:254:7610:9048 . . . . . . . 0/1:-881.726,0,-844.691:857:412:428:13278:12748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-574.805,0,-652.996:641:330:298:8958:9794 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-523.732,0,-476.062:483:223:249:7682:7129:223,249 . . chr2 179567398 . A C 3218.67 . AB=0.48773;ABP=3.4366;AC=1;AF=0.5;AN=2;AO=159;CIGAR=1X;DP=326;DPB=326;DPRA=0;EPP=28.2622;EPPR=58.6132;GTI=0;LEN=1;MEANALT=3;MQM=39.8491;MQMR=40.1212;NS=1;NUMALT=1;ODDS=741.126;PAIRED=0.943396;PAIREDR=0.951515;PAO=0;PQA=0;PQR=0;PRO=0;QA=5129;QR=5329;RO=165;RPL=126;RPP=121.13;RPPR=102.622;RPR=33;RUN=1;SAF=68;SAP=10.2349;SAR=91;SF=1;SRF=76;SRP=5.23441;SRR=89;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.00339457;avsnp147=rs72650010;Kaviar_AF=0.0033311;Kaviar_AC=515;Kaviar_AN=154602;ExAC_ALL=0.0039;ExAC_AFR=0.0001;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0023;ExAC_OTH=0.0070;ExAC_SAS=0.0189;CLNALLELEID=55995;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.6979;dpsi_zscore=-2.457;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0166;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.021e-05;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0177;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-344.613,0,-355.016:326:165:159:5129:5329:165,159 . . . . . . . . . . . . . . . . . . chr2 179569387 . T A 8562.98 . AB=0.459231;ABP=18.4141;AC=9;AF=0.5;AN=18;AO=490;CIGAR=1X;DP=8892;DPB=1067;DPRA=0;EPP=64.7156;EPPR=83.9953;GTI=0;LEN=1;MEANALT=3;MQM=40.3184;MQMR=40.027;NS=1;NUMALT=1;ODDS=1885.58;PAIRED=0.991837;PAIREDR=0.976619;PAO=0;PQA=0;PQR=0;PRO=0;QA=13259;QR=16641;RO=556;RPL=196;RPP=45.5712;RPPR=57.3908;RPR=294;RUN=1;SAF=282;SAP=27.2776;SAR=208;SF=0,1;SRF=303;SRP=12.7741;SRR=253;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.A26080T:p.T8694S,TTN:NM_001256850:exon103:c.A28861T:p.T9621S,TTN:NM_001267550:exon105:c.A29812T:p.T9938S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0266;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0266;1000g2015aug_all=0.0105831;avsnp147=rs72650006;Kaviar_AF=0.0191459;Kaviar_AC=2960;Kaviar_AN=154602;ExAC_ALL=0.0199;ExAC_AFR=0.0048;ExAC_AMR=0.0141;ExAC_EAS=0.0003;ExAC_FIN=0.0283;ExAC_NFE=0.0259;ExAC_OTH=0.0260;ExAC_SAS=0.0152;CLNALLELEID=55991;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.495;SIFT_pred=T;Polyphen2_HDIV_score=0.146;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.119;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.08;FATHMM_pred=T;PROVEAN_score=-2.53;PROVEAN_pred=D;VEST3_score=0.123;CADD_raw=2.427;CADD_phred=19.00;DANN_score=0.905;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.045;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.82;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=16.181;GDI_full_10282015=.;dpsi_max_tissue=0.0233;dpsi_zscore=0.157;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0151;gnomAD_exome_ASJ=0.0179;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0261;gnomAD_exome_NFE=0.0255;gnomAD_exome_OTH=0.0223;gnomAD_exome_SAS=0.0154;gnomAD_genome_ALL=0.0191;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0229;gnomAD_genome_NFE=0.0296;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-839.966,0,-1113.06:1067:556:490:13259:16641 0/1:-1156.75,0,-1213.69:1295:622:641:17889:18924 . . . . . . . . 0/1:-953.793,0,-915.252:1007:464:523:14364:14041 . . . 0/1:-786.663,0,-936.851:891:449:426:12141:13927 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-913.881,0,-947.004:985:463:495:13854:14241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-830.238,0,-1221.57:1063:573:467:13127:17882 . . . . . . . . . . . . . . . 0/1:-791.57,0,-1051.38:974:502:452:12621:15519 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-769.896,0,-766.361:756:355:386:11625:11454:355,386 . 0/1:-773.368,0,-950.914:854:442:396:11777:13936:442,396 . . . . . chr2 179569400 . C T 11182.00 . AB=0.463174;ABP=18.5239;AC=2;AF=0.5;AN=4;AO=610;CIGAR=1X;DP=2536;DPB=1317;DPRA=0;EPP=113.278;EPPR=124.626;GTI=0;LEN=1;MEANALT=3;MQM=38.9902;MQMR=39.9792;NS=1;NUMALT=1;ODDS=2537.47;PAIRED=0.97541;PAIREDR=0.982143;PAO=0;PQA=0;PQR=0;PRO=0;QA=17627;QR=19801;RO=672;RPL=277;RPP=14.1738;RPPR=35.3239;RPR=333;RUN=1;SAF=344;SAP=24.6681;SAR=266;SF=0;SRF=383;SRP=31.5626;SRR=289;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.G26067A:p.S8689S,TTN:NM_001256850:exon103:c.G28848A:p.S9616S,TTN:NM_001267550:exon105:c.G29799A:p.S9933S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0420;esp6500siv2_ea=0.0243;esp6500siv2_all=0.0420;esp6500siv2_ea=0.0243;1000g2015aug_all=0.0842652;avsnp147=rs2742344;Kaviar_AF=0.0474444;Kaviar_AC=7335;Kaviar_AN=154602;ExAC_ALL=0.0520;ExAC_AFR=0.0907;ExAC_AMR=0.0510;ExAC_EAS=0.2175;ExAC_FIN=0.0564;ExAC_NFE=0.0295;ExAC_OTH=0.0342;ExAC_SAS=0.0335;CLNALLELEID=55990;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0512;dpsi_zscore=-0.271;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0487;gnomAD_exome_AFR=0.0889;gnomAD_exome_AMR=0.0465;gnomAD_exome_ASJ=0.0322;gnomAD_exome_EAS=0.2089;gnomAD_exome_FIN=0.0515;gnomAD_exome_NFE=0.0255;gnomAD_exome_OTH=0.0383;gnomAD_exome_SAS=0.0308;gnomAD_genome_ALL=0.0560;gnomAD_genome_AFR=0.0849;gnomAD_genome_AMR=0.0418;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1929;gnomAD_genome_FIN=0.0572;gnomAD_genome_NFE=0.0258;gnomAD_genome_OTH=0.0459;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1125.24,0,-1318.64:1317:672:610:17627:19801 . . . . . . . . . . . . . . . . . . . 0/1:-1164.72,0,-1125.25:1219:578:607:17557:16930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179569436 . A G 9604.62 . AB=0.445608;ABP=34.9;AC=2;AF=0.5;AN=4;AO=553;CIGAR=1X;DP=2393;DPB=1241;DPRA=0;EPP=11.6844;EPPR=87.1459;GTI=0;LEN=1;MEANALT=3;MQM=39.2315;MQMR=39.7115;NS=1;NUMALT=1;ODDS=2205.14;PAIRED=0.974684;PAIREDR=0.982063;PAO=0;PQA=0;PQR=0;PRO=0;QA=15767;QR=19987;RO=669;RPL=328;RPP=44.6688;RPPR=47.4427;RPR=225;RUN=1;SAF=229;SAP=38.4489;SAR=324;SF=0;SRF=281;SRP=40.172;SRR=388;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.T26031C:p.I8677I,TTN:NM_001256850:exon103:c.T28812C:p.I9604I,TTN:NM_001267550:exon105:c.T29763C:p.I9921I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0584;esp6500siv2_ea=0.0248;esp6500siv2_all=0.0584;esp6500siv2_ea=0.0248;1000g2015aug_all=0.096845;avsnp147=rs2742343;Kaviar_AF=0.0518622;Kaviar_AC=8018;Kaviar_AN=154602;ExAC_ALL=0.0574;ExAC_AFR=0.1408;ExAC_AMR=0.0533;ExAC_EAS=0.2217;ExAC_FIN=0.0565;ExAC_NFE=0.0304;ExAC_OTH=0.0422;ExAC_SAS=0.0334;CLNALLELEID=55988;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0379;dpsi_zscore=0.240;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0525;gnomAD_exome_AFR=0.1384;gnomAD_exome_AMR=0.0488;gnomAD_exome_ASJ=0.0322;gnomAD_exome_EAS=0.2105;gnomAD_exome_FIN=0.0515;gnomAD_exome_NFE=0.0259;gnomAD_exome_OTH=0.0403;gnomAD_exome_SAS=0.0308;gnomAD_genome_ALL=0.0712;gnomAD_genome_AFR=0.1379;gnomAD_genome_AMR=0.0442;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1919;gnomAD_genome_FIN=0.0567;gnomAD_genome_NFE=0.0262;gnomAD_genome_OTH=0.0491;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-976.727,0,-1331.37:1241:669:553:15767:19987 . . . . . . . . . . . . . . . . . . . 0/1:-987.864,0,-1162.11:1152:577:555:15299:17303 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179569583 . T A 11665.40 . AB=0.515741;ABP=5.33458;AC=1;AF=0.5;AN=2;AO=557;CIGAR=1X;DP=1080;DPB=1080;DPRA=0;EPP=3.20133;EPPR=3.04781;GTI=0;LEN=1;MEANALT=2;MQM=40.6535;MQMR=40.856;NS=1;NUMALT=1;ODDS=2432.12;PAIRED=0.980251;PAIREDR=0.990403;PAO=0;PQA=0;PQR=0;PRO=0;QA=17375;QR=16052;RO=521;RPL=283;RPP=3.32608;RPPR=7.54914;RPR=274;RUN=1;SAF=328;SAP=41.2196;SAR=229;SF=0;SRF=293;SRP=20.6196;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;1000g2015aug_all=0.00599042;avsnp147=rs187393718;Kaviar_AF=0.0036739;Kaviar_AC=568;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0238;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5873;dpsi_zscore=1.817;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=5.859e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0218;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1178.71,0,-1066.72:1080:521:557:17375:16052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179569705 . A G 10793.60 . AB=0.473054;ABP=10.3829;AC=1;AF=0.5;AN=2;AO=553;CIGAR=1X;DP=1169;DPB=1169;DPRA=0;EPP=17.6216;EPPR=3.82325;GTI=0;LEN=1;MEANALT=3;MQM=40.4792;MQMR=40.8952;NS=1;NUMALT=1;ODDS=2485.33;PAIRED=0.971067;PAIREDR=0.993344;PAO=0;PQA=0;PQR=0;PRO=0;QA=16656;QR=19228;RO=601;RPL=322;RPP=35.5274;RPPR=35.6185;RPR=231;RUN=1;SAF=236;SAP=28.7735;SAR=317;SF=0;SRF=271;SRP=15.5875;SRR=330;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0018;1000g2015aug_all=0.00599042;avsnp147=rs143352892;Kaviar_AF=0.0036675;Kaviar_AC=567;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0.0011;ExAC_SAS=0.0235;CLNALLELEID=55987;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8520;dpsi_zscore=-2.120;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0.0221;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1095.14,0,-1323.23:1169:601:553:16656:19228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179571423 . G T 6244.31 . AB=0.491304;ABP=3.46348;AC=2;AF=0.5;AN=4;AO=339;CIGAR=1X;DP=1401;DPB=690;DPRA=0;EPP=3.52915;EPPR=3.01656;GTI=0;LEN=1;MEANALT=3;MQM=39.1062;MQMR=39.1643;NS=1;NUMALT=1;ODDS=1402.13;PAIRED=0.973451;PAIREDR=0.974063;PAO=0;PQA=0;PQR=0;PRO=0;QA=9683;QR=10340;RO=347;RPL=198;RPP=23.8218;RPPR=4.81882;RPR=141;RUN=1;SAF=199;SAP=25.3079;SAR=140;SF=0;SRF=199;SRP=19.287;SRR=148;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon99:c.C25446A:p.I8482I,TTN:NM_001256850:exon100:c.C28227A:p.I9409I,TTN:NM_001267550:exon102:c.C29178A:p.I9726I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0026;1000g2015aug_all=0.0101837;avsnp147=rs72650003;Kaviar_AF=0.0054915;Kaviar_AC=849;Kaviar_AN=154602;ExAC_ALL=0.0059;ExAC_AFR=0.0006;ExAC_AMR=0.0004;ExAC_EAS=0.0421;ExAC_FIN=0.0098;ExAC_NFE=0.0033;ExAC_OTH=0.0078;ExAC_SAS=0.0029;CLNALLELEID=55984;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5446;dpsi_zscore=1.176;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0059;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0428;gnomAD_exome_FIN=0.0106;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0030;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0486;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0032;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-620.935,0,-674.292:690:347:339:9683:10340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-651.802,0,-644.039:711:345:361:10142:9994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179571448 . A G 5628.47 . AB=0.478261;ABP=4.89854;AC=8;AF=0.5;AN=14;AO=220;CIGAR=1X;DP=2932;DPB=460;DPRA=0;EPP=3.36563;EPPR=22.2122;GTI=0;LEN=1;MEANALT=3;MQM=38.2864;MQMR=38.3581;NS=1;NUMALT=1;ODDS=886.806;PAIRED=1;PAIREDR=0.969432;PAO=0;PQA=0;PQR=0;PRO=0;QA=6349;QR=6788;RO=229;RPL=85;RPP=27.6861;RPPR=68.3346;RPR=135;RUN=1;SAF=108;SAP=3.16823;SAR=112;SF=0,1;SRF=103;SRP=8.0265;SRR=126;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon99:c.T25421C:p.I8474T,TTN:NM_001256850:exon100:c.T28202C:p.I9401T,TTN:NM_001267550:exon102:c.T29153C:p.I9718T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0783;esp6500siv2_ea=0.0261;esp6500siv2_all=0.0783;esp6500siv2_ea=0.0261;1000g2015aug_all=0.127396;avsnp147=rs4893852;Kaviar_AF=0.0753807;Kaviar_AC=11654;Kaviar_AN=154602;ExAC_ALL=0.0797;ExAC_AFR=0.2076;ExAC_AMR=0.1949;ExAC_EAS=0.0277;ExAC_FIN=0.0582;ExAC_NFE=0.0280;ExAC_OTH=0.0878;ExAC_SAS=0.1676;CLNALLELEID=55983;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.757;SIFT_pred=T;Polyphen2_HDIV_score=0.4;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.191;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.288;MutationTaster_pred=P;MutationAssessor_score=-1.285;MutationAssessor_pred=N;FATHMM_score=-0.08;FATHMM_pred=T;PROVEAN_score=-3.0;PROVEAN_pred=D;VEST3_score=0.313;CADD_raw=2.835;CADD_phred=21.5;DANN_score=0.909;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.018;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=16.806;GDI_full_10282015=.;dpsi_max_tissue=0.2754;dpsi_zscore=0.854;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0827;gnomAD_exome_AFR=0.2042;gnomAD_exome_AMR=0.1949;gnomAD_exome_ASJ=0.0421;gnomAD_exome_EAS=0.0281;gnomAD_exome_FIN=0.0570;gnomAD_exome_NFE=0.0270;gnomAD_exome_OTH=0.0655;gnomAD_exome_SAS=0.1686;gnomAD_genome_ALL=0.0849;gnomAD_genome_AFR=0.2044;gnomAD_genome_AMR=0.1722;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0.0336;gnomAD_genome_FIN=0.0527;gnomAD_genome_NFE=0.0260;gnomAD_genome_OTH=0.0612;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-394.936,0,-432.122:460:229:220:6349:6788 . 0/1:-489.18,0,-590.413:558:285:260:7624:8741 . . . . . . . . . . . . . . . . . . . . . . 1/1:-1171.07,-115.69,0:508:13:483:14106:405 . . . . . . 0/1:-468.162,0,-430.847:483:225:250:7145:6916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-269.067,0,-265.651:258:129:129:4007:3957:129,129 0/1:-282.809,0,-377.273:323:171:148:4433:5454:171,148 . . . . . . . . . . . . . . 0/1:-344.869,0,-364.141:342:169:169:5152:5372:169,169 . . . chr2 179571697 . C T 8930.87 . AB=0.482044;ABP=5.03781;AC=7;AF=0.5;AN=12;AO=349;CIGAR=1X;DP=4396;DPB=724;DPRA=0;EPP=82.4588;EPPR=22.8839;GTI=0;LEN=1;MEANALT=3;MQM=39.3066;MQMR=40.1972;NS=1;NUMALT=1;ODDS=1371.73;PAIRED=0.968481;PAIREDR=0.971831;PAO=0;PQA=0;PQR=0;PRO=0;QA=9691;QR=10595;RO=355;RPL=195;RPP=13.4695;RPPR=45.1491;RPR=154;RUN=1;SAF=165;SAP=5.25644;SAR=184;SF=0,1;SRF=156;SRP=14.3203;SRR=199;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0451;esp6500siv2_ea=0.0239;esp6500siv2_all=0.0451;esp6500siv2_ea=0.0239;1000g2015aug_all=0.0942492;avsnp147=rs10203085;Kaviar_AF=0.0609436;Kaviar_AC=9422;Kaviar_AN=154602;ExAC_ALL=0.0943;ExAC_AFR=0.1244;ExAC_AMR=0.2634;ExAC_EAS=0.0402;ExAC_FIN=0.0748;ExAC_NFE=0.0370;ExAC_OTH=0.0871;ExAC_SAS=0.1972;CLNALLELEID=141477;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0131;dpsi_zscore=-0.059;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0752;gnomAD_exome_AFR=0.0969;gnomAD_exome_AMR=0.1885;gnomAD_exome_ASJ=0.0250;gnomAD_exome_EAS=0.0283;gnomAD_exome_FIN=0.0566;gnomAD_exome_NFE=0.0261;gnomAD_exome_OTH=0.0583;gnomAD_exome_SAS=0.1697;gnomAD_genome_ALL=0.0527;gnomAD_genome_AFR=0.0935;gnomAD_genome_AMR=0.1683;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0337;gnomAD_genome_FIN=0.0527;gnomAD_genome_NFE=0.025;gnomAD_genome_OTH=0.0551;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-612.715,0,-702.062:724:355:349:9691:10595 . 0/1:-871.458,0,-888.113:904:445:450:13243:13406 . . . . . . . . . . . . . . . . . . . . . . 1/1:-1813.02,-196.962,0:778:13:754:21678:398 . . . . . . 0/1:-533.144,0,-727.303:675:361:300:8632:10787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-713.867,0,-632.803:644:302:338:10380:9500:302,338 0/1:-643.077,0,-737.503:671:342:322:9929:10665:342,322 . . . . . . . . . . . . . . . . . . chr2 179571714 . A G 4552.98 . AB=0.399709;ABP=63.1172;AC=1;AF=0.5;AN=2;AO=275;CIGAR=1X;DP=688;DPB=688;DPRA=0;EPP=10.5986;EPPR=127.811;GTI=0;LEN=1;MEANALT=3;MQM=39.3564;MQMR=39.3856;NS=1;NUMALT=1;ODDS=1048.36;PAIRED=0.989091;PAIREDR=0.972637;PAO=0;PQA=0;PQR=0;PRO=0;QA=7990;QR=12205;RO=402;RPL=169;RPP=34.3506;RPPR=10.8103;RPR=106;RUN=1;SAF=101;SAP=45.0895;SAR=174;SF=0;SRF=171;SRP=22.4563;SRR=231;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774312135;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=4.374e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0072;dpsi_zscore=-0.018;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.126e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=7.753e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=4.227e-05;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-476.113,0,-832.93:688:402:275:7990:12205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179574384 . C T 14517.10 . AB=0.474006;ABP=12.606;AC=2;AF=0.5;AN=4;AO=775;CIGAR=1X;DP=3190;DPB=1635;DPRA=0;EPP=17.9416;EPPR=46.0822;GTI=0;LEN=1;MEANALT=3;MQM=39.5135;MQMR=40.247;NS=1;NUMALT=1;ODDS=3444.54;PAIRED=0.971613;PAIREDR=0.951574;PAO=0;PQA=0;PQR=0;PRO=0;QA=23776;QR=25936;RO=826;RPL=197;RPP=409.737;RPPR=406.978;RPR=578;RUN=1;SAF=481;SAP=100.99;SAR=294;SF=0;SRF=526;SRP=137.284;SRR=300;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon96:c.G24930A:p.R8310R,TTN:NM_001256850:exon97:c.G27711A:p.R9237R,TTN:NM_001267550:exon99:c.G28662A:p.R9554R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0348;esp6500siv2_ea=0.0237;esp6500siv2_all=0.0348;esp6500siv2_ea=0.0237;1000g2015aug_all=0.0752796;avsnp147=rs2742332;Kaviar_AF=0.0460861;Kaviar_AC=7125;Kaviar_AN=154602;ExAC_ALL=0.0488;ExAC_AFR=0.0630;ExAC_AMR=0.0477;ExAC_EAS=0.2155;ExAC_FIN=0.0549;ExAC_NFE=0.0289;ExAC_OTH=0.0356;ExAC_SAS=0.0325;CLNALLELEID=55977;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0504;dpsi_zscore=0.300;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0474;gnomAD_exome_AFR=0.0647;gnomAD_exome_AMR=0.0455;gnomAD_exome_ASJ=0.0325;gnomAD_exome_EAS=0.2110;gnomAD_exome_FIN=0.0511;gnomAD_exome_NFE=0.0259;gnomAD_exome_OTH=0.0367;gnomAD_exome_SAS=0.0309;gnomAD_genome_ALL=0.0494;gnomAD_genome_AFR=0.0634;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1904;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0255;gnomAD_genome_OTH=0.0449;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1558.44,0,-1753.32:1635:826:775:23776:25936 . . . . . . . . . . . . . . . . . . . 0/1:-1467.22,0,-1723.81:1555:803:735:22431:25505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179575357 . G C 1395.06 . AB=0.452736;ABP=6.91031;AC=1;AF=0.5;AN=2;AO=91;CIGAR=1X;DP=201;DPB=201;DPRA=0;EPP=4.17955;EPPR=5.51266;GTI=0;LEN=1;MEANALT=3;MQM=39.044;MQMR=39.019;NS=1;NUMALT=1;ODDS=321.225;PAIRED=0.967033;PAIREDR=0.971429;PAO=0;PQA=0;PQR=0;PRO=0;QA=2539;QR=2957;RO=105;RPL=19;RPP=70.0396;RPPR=119.339;RPR=72;RUN=1;SAF=61;SAP=25.942;SAR=30;SF=0;SRF=62;SRP=10.476;SRR=43;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=10.6292;dpsi_zscore=3.158;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-155.689,0,-190.379:201:105:91:2539:2957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179575511 . C T 9123.30 . AB=0.506812;ABP=3.15822;AC=14;AF=0.5;AN=28;AO=186;CIGAR=1X;DP=15192;DPB=367;DPRA=0;EPP=42.2836;EPPR=26.768;GTI=0;LEN=1;MEANALT=3;MQM=38.9624;MQMR=38.4911;NS=1;NUMALT=1;ODDS=675.333;PAIRED=0.973118;PAIREDR=0.952663;PAO=0;PQA=0;PQR=0;PRO=0;QA=5423;QR=4820;RO=169;RPL=113;RPP=21.6896;RPPR=3.33152;RPR=73;RUN=1;SAF=101;SAP=5.99899;SAR=85;SF=0,1;SRF=92;SRP=5.90131;SRR=77;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon95:c.G24581A:p.R8194Q,TTN:NM_001256850:exon96:c.G27362A:p.R9121Q,TTN:NM_001267550:exon98:c.G28313A:p.R9438Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0432;esp6500siv2_ea=0.0570;esp6500siv2_all=0.0432;esp6500siv2_ea=0.0570;1000g2015aug_all=0.0273562;avsnp147=rs72648998;Kaviar_AF=0.0463448;Kaviar_AC=7165;Kaviar_AN=154602;ExAC_ALL=0.0451;ExAC_AFR=0.0102;ExAC_AMR=0.0993;ExAC_EAS=0;ExAC_FIN=0.0204;ExAC_NFE=0.0518;ExAC_OTH=0.0389;ExAC_SAS=0.0348;CLNALLELEID=55973;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.317;SIFT_pred=T;Polyphen2_HDIV_score=0.175;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.033;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=1.66;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_pred=N;VEST3_score=0.244;CADD_raw=3.915;CADD_phred=23.5;DANN_score=0.980;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.757;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.3;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=9.955;GDI_full_10282015=.;dpsi_max_tissue=-0.9784;dpsi_zscore=-1.459;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0480;gnomAD_exome_AFR=0.0092;gnomAD_exome_AMR=0.0956;gnomAD_exome_ASJ=0.0526;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0552;gnomAD_exome_OTH=0.0467;gnomAD_exome_SAS=0.0356;gnomAD_genome_ALL=0.0371;gnomAD_genome_AFR=0.0127;gnomAD_genome_AMR=0.0895;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0201;gnomAD_genome_NFE=0.0558;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-353.468,0,-302.489:367:169:186:5423:4820 . . 0/1:-969.479,0,-1185.15:1151:592:539:15654:17739 . . . 0/1:-858.908,0,-1035.35:1072:530:503:14022:15891 . . 0/1:-1312.66,0,-1492.64:1528:764:721:20824:22749 . . . . 0/1:-739.86,0,-857.305:923:461:439:12303:13447 . 0/1:-1116.05,0,-1168.78:1241:613:589:17228:17897 . . . 0/1:-645.291,0,-789.504:841:418:396:10819:12347 . . 0/1:-587.504,0,-763.588:802:408:360:9884:12103 . 0/1:-1008.9,0,-1198.83:1222:615:573:16252:18169 . . . . . . . . . . . 0/1:-1176.45,0,-1389.29:1495:744:705:19409:21614 . . . . . . . . . 0/1:-1260.85,0,-1295.65:1401:673:683:19764:20040 . . . . . . . . . . . . . . . 0/1:-1051.67,0,-1004.6:1009:498:499:15655:15244:498,499 . 0/1:-1001.36,0,-1244.19:1084:571:492:15461:18054:571,492 . . . . . . . . . 0/1:-1083.31,0,-1074.72:1056:525:513:16191:16046:525,513 chr2 179575832 . G A 6964.22 . AB=0.471033;ABP=8.79725;AC=1;AF=0.5;AN=2;AO=374;CIGAR=1X;DP=794;DPB=794;DPRA=0;EPP=6.93521;EPPR=68.7467;GTI=0;LEN=1;MEANALT=3;MQM=38.4091;MQMR=39.086;NS=1;NUMALT=1;ODDS=1603.57;PAIRED=0.973262;PAIREDR=0.970516;PAO=0;PQA=0;PQR=0;PRO=0;QA=11142;QR=12663;RO=407;RPL=154;RPP=28.3016;RPPR=71.1369;RPR=220;RUN=1;SAF=202;SAP=8.23577;SAR=172;SF=0;SRF=234;SRP=22.863;SRR=173;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon94:c.C24399T:p.N8133N,TTN:NM_001256850:exon95:c.C27180T:p.N9060N,TTN:NM_001267550:exon97:c.C28131T:p.N9377N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000199681;avsnp147=rs72648997;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0003;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0005;ExAC_OTH=0.0023;ExAC_SAS=0.0005;CLNALLELEID=102170;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1862;dpsi_zscore=-0.659;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-707.872,0,-833.765:794:407:374:11142:12663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179578012 . T C 4226.25 . AB=0.399061;ABP=59.5603;AC=1;AF=0.5;AN=2;AO=255;CIGAR=1X;DP=639;DPB=639;DPRA=0;EPP=11.1938;EPPR=13.3073;GTI=0;LEN=1;MEANALT=3;MQM=38.5098;MQMR=39.0054;NS=1;NUMALT=1;ODDS=973.131;PAIRED=0.984314;PAIREDR=0.991935;PAO=0;PQA=0;PQR=0;PRO=0;QA=7569;QR=11329;RO=372;RPL=174;RPP=76.6615;RPPR=63.7415;RPR=81;RUN=1;SAF=105;SAP=20.2543;SAR=150;SF=0;SRF=194;SRP=4.50465;SRR=178;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon90:c.A23117G:p.Y7706C,TTN:NM_001256850:exon91:c.A25898G:p.Y8633C,TTN:NM_001267550:exon93:c.A26849G:p.Y8950C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=0.000199681;avsnp147=rs199557654;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0007;ExAC_OTH=0.0016;ExAC_SAS=0.0007;CLNALLELEID=178486;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.174;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-0.24;FATHMM_pred=T;PROVEAN_score=-4.23;PROVEAN_pred=D;VEST3_score=0.485;CADD_raw=1.181;CADD_phred=11.65;DANN_score=0.953;fathmm-MKL_coding_score=0.891;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.149;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.77;phyloP7way_vertebrate=0.047;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.977;SiPhy_29way_logOdds=2.992;GDI_full_10282015=.;dpsi_max_tissue=-0.4574;dpsi_zscore=-1.048;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=6.915e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-444.839,0,-766.647:639:372:255:7569:11329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179578108 . TACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT TACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT 601.48 . AB=0;ABP=0;AC=27;AF=1;AN=38;AO=46;CIGAR=1M5I31M;DP=2329;DPB=143.312;DPRA=0;EPP=12.2627;EPPR=23.2217;GTI=0;LEN=5;MEANALT=44;MQM=37.1087;MQMR=38.9231;NS=1;NUMALT=1;ODDS=79.2117;PAIRED=1;PAIREDR=1;PAO=27;PQA=817;PQR=817;PRO=27;QA=916;QR=374;RO=13;RPL=18;RPP=7.73089;RPPR=31.2394;RPR=28;RUN=1;SAF=2;SAP=86.2815;SAR=44;SF=0,1;SRF=12;SRP=23.2217;SRR=1;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0054;esp6500siv2_ea=0.0056;esp6500siv2_all=0.0054;esp6500siv2_ea=0.0056;1000g2015aug_all=0.355431;avsnp147=rs374810711;Kaviar_AF=0.0035769;Kaviar_AC=553;Kaviar_AN=154602;ExAC_ALL=0.1429;ExAC_AFR=0.1907;ExAC_AMR=0.3051;ExAC_EAS=0.4352;ExAC_FIN=0.1292;ExAC_NFE=0.1171;ExAC_OTH=0.1860;ExAC_SAS=0.1013;CLNALLELEID=55954;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1930;gnomAD_exome_AFR=0.2282;gnomAD_exome_AMR=0.2764;gnomAD_exome_ASJ=0.0605;gnomAD_exome_EAS=0.4363;gnomAD_exome_FIN=0.1282;gnomAD_exome_NFE=0.1243;gnomAD_exome_OTH=0.1842;gnomAD_exome_SAS=0.2965;gnomAD_genome_ALL=0.2085;gnomAD_genome_AFR=0.2471;gnomAD_genome_AMR=0.3459;gnomAD_genome_ASJ=0.1433;gnomAD_genome_EAS=0.4506;gnomAD_genome_FIN=0.1335;gnomAD_genome_NFE=0.1734;gnomAD_genome_OTH=0.1921;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 1/1:.,.,0:110:13:46:916:374 . . . . . . . . . . . . . . . . . . . 1/1:.,.,0:54:7:22:463:206 . 1/1:.,.,0:155:18:66:1603:503 . . . . . 1/1:.,.,0:96:12:45:958:341 0/1:.,.,-128.205:199:79:58:1296:2420 1/1:.,.,0:230:31:114:2425:889 . . . . . . 0/1:.,.,-91.5172:186:63:61:1376:1938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:.,.,0:172:14:103:2197:402 1/1:.,.,0:229:26:109:2473:756 . . . . . 0/1:-41.574,0,-86.8913:109:41:28:750:1308:41,28 0/1:-33.3549,0,-63.0314:93:30:22:575:972:30,22 0/1:-48.5388,0,-68.7091:96:32:30:740:1065:32,30 . . . . 0/1:-32.5443,0,-48.5498:95:27:26:573:879:27,26 . 1/1:-84.8964,-14.3747,0:69:1:35:927:35:1,35 . 0/1:-31.4413,0,-83.6847:103:37:24:577:1214:37,24 . 0/1:-12.3143,0,-66.6288:83:30:19:394:980:30,19 . . 0/1:-14.9185,0,-93.0745:97:39:17:398:1282:39,17 0/1:-40.6001,0,-52.2239:73:26:23:677:858:26,23 . 0/1:-19.2867,0,-49.9424:80:24:18:401:784:24,18 chr2 179578703 . C T 12050.35 . AB=0.494597;ABP=3.31535;AC=2;AF=0.5;AN=4;AO=595;CIGAR=1X;DP=2435;DPB=1203;DPRA=0;EPP=6.07956;EPPR=6.08991;GTI=0;LEN=1;MEANALT=3;MQM=40.5193;MQMR=41.1046;NS=1;NUMALT=1;ODDS=2796.16;PAIRED=0.957983;PAIREDR=0.979764;PAO=0;PQA=0;PQR=0;PRO=0;QA=18699;QR=18546;RO=593;RPL=146;RPP=338.07;RPPR=292.153;RPR=449;RUN=1;SAF=255;SAP=29.3782;SAR=340;SF=1;SRF=254;SRP=29.4671;SRR=339;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.G22950A:p.P7650P,TTN:NM_001256850:exon90:c.G25731A:p.P8577P,TTN:NM_001267550:exon92:c.G26682A:p.P8894P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0034;1000g2015aug_all=0.00459265;avsnp147=rs142812510;Kaviar_AF=0.0045795;Kaviar_AC=708;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0004;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0.0049;ExAC_NFE=0.0039;ExAC_OTH=0.0023;ExAC_SAS=0.0186;CLNALLELEID=55952;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.9503;dpsi_zscore=-2.142;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0047;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0087;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0180;gnomAD_genome_ALL=0.0031;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0046;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1263.18,0,-1255.46:1203:593:595:18699:18546:593,595 . . . . 0/1:-1239.4,0,-1344.33:1232:622:594:18598:19790:622,594 . . . . . . chr2 179578704 . G A 13264.26 . AB=0.46344;ABP=14.2836;AC=7;AF=0.5;AN=12;AO=450;CIGAR=1X;DP=7179;DPB=971;DPRA=0;EPP=3.70517;EPPR=4.77572;GTI=0;LEN=1;MEANALT=3;MQM=37.8911;MQMR=39.2256;NS=1;NUMALT=1;ODDS=1840.05;PAIRED=0.924444;PAIREDR=0.926829;PAO=0;PQA=0;PQR=0;PRO=0;QA=13237;QR=14625;RO=492;RPL=130;RPP=177.211;RPPR=305.975;RPR=320;RUN=1;SAF=193;SAP=22.7755;SAR=257;SF=0,1;SRF=219;SRP=15.8802;SRR=273;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.C22949T:p.P7650L,TTN:NM_001256850:exon90:c.C25730T:p.P8577L,TTN:NM_001267550:exon92:c.C26681T:p.P8894L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0615;esp6500siv2_ea=0.0256;esp6500siv2_all=0.0615;esp6500siv2_ea=0.0256;1000g2015aug_all=0.111422;avsnp147=rs13398235;Kaviar_AF=0.0705812;Kaviar_AC=10912;Kaviar_AN=154602;ExAC_ALL=0.0751;ExAC_AFR=0.1555;ExAC_AMR=0.1936;ExAC_EAS=0.0279;ExAC_FIN=0.0588;ExAC_NFE=0.0277;ExAC_OTH=0.0863;ExAC_SAS=0.1669;CLNALLELEID=55951;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.755;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.808;MutationTaster_pred=P;MutationAssessor_score=-0.475;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_pred=T;PROVEAN_score=-4.69;PROVEAN_pred=D;VEST3_score=0.263;CADD_raw=2.101;CADD_phred=16.86;DANN_score=0.810;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.124;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.378;phastCons20way_mammalian=0.015;SiPhy_29way_logOdds=9.129;GDI_full_10282015=.;dpsi_max_tissue=-2.4437;dpsi_zscore=-2.027;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0786;gnomAD_exome_AFR=0.1518;gnomAD_exome_AMR=0.1913;gnomAD_exome_ASJ=0.0419;gnomAD_exome_EAS=0.0281;gnomAD_exome_FIN=0.0577;gnomAD_exome_NFE=0.0265;gnomAD_exome_OTH=0.0617;gnomAD_exome_SAS=0.1670;gnomAD_genome_ALL=0.0701;gnomAD_genome_AFR=0.1530;gnomAD_genome_AMR=0.1695;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0.0340;gnomAD_genome_FIN=0.0536;gnomAD_genome_NFE=0.0254;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-827.373,0,-963.926:971:492:450:13237:14625 . 0/1:-1092.9,0,-1450.19:1328:725:574:17359:21424 . . . . . . . . . . . . . . . . . . . . . . 1/1:-2660.72,-249.676,0:1101:34:1050:32052:909 . . . . . . 0/1:-922.794,0,-805.55:919:430:474:14029:12599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1280.35,0,-1860.05:1495:849:624:19865:26467:849,624 0/1:-1315.01,0,-1554.7:1365:718:633:19851:22598:718,633 . . . . . . . . . . . . . . . . . . chr2 179578730 . G A 15363.06 . AB=0.499695;ABP=3.01163;AC=50;AF=0.5;AN=84;AO=818;CIGAR=1X;DP=55160;DPB=1637;DPRA=0;EPP=50.6765;EPPR=46.4288;GTI=0;LEN=1;MEANALT=3;MQM=38.6919;MQMR=39.6247;NS=1;NUMALT=1;ODDS=3281.38;PAIRED=0.918093;PAIREDR=0.93199;PAO=0;PQA=0;PQR=0;PRO=0;QA=24788;QR=23467;RO=794;RPL=158;RPP=671.983;RPPR=697.706;RPR=660;RUN=1;SAF=394;SAP=5.39945;SAR=424;SF=0,1;SRF=365;SRP=14.2123;SRR=429;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.C22923T:p.S7641S,TTN:NM_001256850:exon90:c.C25704T:p.S8568S,TTN:NM_001267550:exon92:c.C26655T:p.S8885S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2641;esp6500siv2_ea=0.2012;esp6500siv2_all=0.2641;esp6500siv2_ea=0.2012;1000g2015aug_all=0.444688;avsnp147=rs2562839;Kaviar_AF=0.296794;Kaviar_AC=45885;Kaviar_AN=154602;ExAC_ALL=0.3061;ExAC_AFR=0.4213;ExAC_AMR=0.4167;ExAC_EAS=0.6651;ExAC_FIN=0.2082;ExAC_NFE=0.2023;ExAC_OTH=0.2803;ExAC_SAS=0.4334;CLNALLELEID=55949;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7889;dpsi_zscore=-1.829;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3071;gnomAD_exome_AFR=0.4216;gnomAD_exome_AMR=0.4143;gnomAD_exome_ASJ=0.2000;gnomAD_exome_EAS=0.6664;gnomAD_exome_FIN=0.2038;gnomAD_exome_NFE=0.2022;gnomAD_exome_OTH=0.2645;gnomAD_exome_SAS=0.4297;gnomAD_genome_ALL=0.2940;gnomAD_genome_AFR=0.4240;gnomAD_genome_AMR=0.4007;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.6512;gnomAD_genome_FIN=0.1926;gnomAD_genome_NFE=0.2036;gnomAD_genome_OTH=0.2475;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1610.22,0,-1513.98:1637:794:818:24788:23467 . . . . . . . . . 0/1:-1038.04,0,-1284.38:1209:652:530:16319:19221 0/1:-1362.67,0,-1178.69:1329:612:684:20617:18285 . . . 0/1:-849.079,0,-1109.49:1050:554:472:13954:16422 . 0/1:-1163.37,0,-1368.66:1322:702:592:18351:20458 1/1:-2328.88,-260.447,0:925:6:906:27620:159 . 0/1:-1451.28,0,-1592.3:1567:799:737:22451:23937 . . . . . 0/1:-1516.69,0,-1455.87:1508:741:738:22849:21931 . . . 0/1:-1751.48,0,-1412.4:1639:756:857:26045:22361 . . . . . 0/1:-1394.88,0,-1150.06:1286:592:666:20691:17788 . 1/1:-1108.88,-106.727,0:455:11:436:13278:313 . 1/1:-3244.35,-328.144,0:1273:21:1232:38579:568 0/1:-1336.31,0,-1320.69:1361:671:663:20363:19915 . . . 0/1:-1348.35,0,-1321.48:1402:683:682:20625:20211 1/1:-1737.86,-192.576,0:685:5:673:20574:136 0/1:-1054.46,0,-933.284:1013:476:519:15934:14400 1/1:-4059.74,-403.349,0:1636:35:1590:48534:1062 0/1:-1362.78,0,-1211.07:1346:638:677:20499:18852 . . 0/1:-1284.63,0,-1398.3:1401:719:657:19760:21061 0/1:-1054.91,0,-1025.73:1128:554:554:16345:16016 . 0/1:-1390.88,0,-1166.51:1340:617:698:20942:18268 . . . 0/1:-870.398,0,-762.071:896:418:460:13522:12321 0/1:-1594.98,0,-1908.04:1801:943:818:25201:28196 . 0/1:-905.244,0,-1000.84:1015:524:476:14187:15300 . 0/1:-1276.77,0,-1489.12:1423:746:650:19802:22204 0/1:-638.511,0,-854.69:808:445:349:10237:12923 0/1:-1374.12,0,-1412.19:1470:732:703:21290:21532 . . . . . . . 0/1:-1517.08,0,-1668.2:1668:859:772:23674:25419 . 0/1:-1638.84,0,-1460.48:1606:776:812:24960:22526 . . . . . . . . . 0/1:-1432.35,0,-1478.93:1517:769:717:21912:22396 . 1/1:-3262.73,-340.341,0:1302:18:1266:38856:534 1/1:-4481.38,-426.288,0:1847:47:1772:53915:1401 0/1:-1345.76,0,-1186.74:1318:620:662:20426:18405 . . . . 0/1:-1365.06,0,-1838.23:1545:858:661:21156:26321:858,661 0/1:-1389.41,0,-1472.47:1359:697:639:20723:21581:697,639 0/1:-1601.89,0,-1655.83:1556:783:742:23834:24377:783,742 . . . . 0/1:-1491.06,0,-1471.86:1433:703:708:22290:21706:703,708 . 1/1:-3290.88,-329.41,0:1237:16:1213:38500:471:16,1213 . 0/1:-1082.63,0,-1380.28:1200:651:531:16754:20038:651,531 . 0/1:-1267.97,0,-1195.36:1194:579:602:18900:17937:579,602 . . . 0/1:-1228.91,0,-1288.04:1232:617:593:18537:19073:617,593 . 0/1:-1224.31,0,-1306.06:1221:621:583:18382:19240:621,583 chr2 179578891 . T C 6169.17 . AB=0.516026;ABP=4.40227;AC=1;AF=0.5;AN=2;AO=322;CIGAR=1X;DP=624;DPB=624;DPRA=0;EPP=22.6749;EPPR=90.3484;GTI=0;LEN=1;MEANALT=3;MQM=39.3199;MQMR=40.031;NS=1;NUMALT=1;ODDS=1314.48;PAIRED=0.993789;PAIREDR=0.982759;PAO=0;PQA=0;PQR=0;PRO=0;QA=9494;QR=8998;RO=290;RPL=130;RPP=28.9331;RPPR=28.1994;RPR=192;RUN=1;SAF=188;SAP=22.6749;SAR=134;SF=0;SRF=167;SRP=17.5068;SRR=123;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.A22762G:p.I7588V,TTN:NM_001256850:exon90:c.A25543G:p.I8515V,TTN:NM_001267550:exon92:c.A26494G:p.I8832V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000199681;avsnp147=rs72648989;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0005;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0011;ExAC_OTH=0.0011;ExAC_SAS=0.0009;CLNALLELEID=173213;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.517;SIFT_pred=T;Polyphen2_HDIV_score=0.91;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.554;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=-0.38;FATHMM_pred=T;PROVEAN_score=-0.61;PROVEAN_pred=N;VEST3_score=0.244;CADD_raw=1.831;CADD_phred=15.17;DANN_score=0.945;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.295;MetaSVM_pred=T;MetaLR_score=0.343;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.86;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.643;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=16.255;GDI_full_10282015=.;dpsi_max_tissue=-1.4935;dpsi_zscore=-1.713;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-631.368,0,-591.609:624:290:322:9494:8998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179579093 . T C 12512.93 . AB=0.509786;ABP=3.94535;AC=41;AF=0.5;AN=68;AO=573;CIGAR=1X;DP=35651;DPB=1124;DPRA=0;EPP=13.6554;EPPR=22.1723;GTI=0;LEN=1;MEANALT=3;MQM=39.6213;MQMR=39.416;NS=1;NUMALT=1;ODDS=2250.86;PAIRED=0.972077;PAIREDR=0.979008;PAO=0;PQA=0;PQR=0;PRO=0;QA=16823;QR=15665;RO=524;RPL=243;RPP=31.6942;RPPR=64.6901;RPR=330;RUN=1;SAF=293;SAP=3.65075;SAR=280;SF=0,1;SRF=269;SRP=3.82253;SRR=255;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon88:c.A22676G:p.N7559S,TTN:NM_001256850:exon89:c.A25457G:p.N8486S,TTN:NM_001267550:exon91:c.A26408G:p.N8803S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1529;esp6500siv2_ea=0.1506;esp6500siv2_all=0.1529;esp6500siv2_ea=0.1506;1000g2015aug_all=0.247005;avsnp147=rs12693164;Kaviar_AF=0.175845;Kaviar_AC=27186;Kaviar_AN=154602;ExAC_ALL=0.1793;ExAC_AFR=0.1616;ExAC_AMR=0.1766;ExAC_EAS=0.4260;ExAC_FIN=0.0940;ExAC_NFE=0.1458;ExAC_OTH=0.1589;ExAC_SAS=0.2339;CLNALLELEID=55942;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_pred=N;VEST3_score=0.036;CADD_raw=-0.712;CADD_phred=0.068;DANN_score=0.409;fathmm-MKL_coding_score=0.848;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.992;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.25;phyloP7way_vertebrate=0.073;phyloP20way_mammalian=-0.211;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.986;SiPhy_29way_logOdds=12.175;GDI_full_10282015=.;dpsi_max_tissue=-0.1118;dpsi_zscore=-0.484;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1789;gnomAD_exome_AFR=0.1641;gnomAD_exome_AMR=0.1766;gnomAD_exome_ASJ=0.1268;gnomAD_exome_EAS=0.4294;gnomAD_exome_FIN=0.0950;gnomAD_exome_NFE=0.1501;gnomAD_exome_OTH=0.1645;gnomAD_exome_SAS=0.2317;gnomAD_genome_ALL=0.1612;gnomAD_genome_AFR=0.1626;gnomAD_genome_AMR=0.1890;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.4255;gnomAD_genome_FIN=0.0822;gnomAD_genome_NFE=0.1514;gnomAD_genome_OTH=0.1415;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-1120.73,0,-994.214:1124:524:573:16823:15665 0/1:-928.59,0,-908.796:980:466:495:14185:14068 . . . . . . 1/1:-1970.28,-227.965,0:834:8:796:23085:209 . . . . . . . 0/1:-894.445,0,-1291.44:1151:624:498:14409:18963 . . . 0/1:-1333.15,0,-1576.99:1501:755:705:20565:23279 . . . . . 0/1:-1067.22,0,-1220.34:1195:590:579:16629:18080 . 1/1:-691.451,-56.6603,0:306:12:288:8385:381 . . 0/1:-952.419,0,-1115.17:1093:540:521:14767:16802 . . . 0/1:-1036.79,0,-1114.71:1149:550:568:16202:16842 1/1:-1338.48,-157.655,0:555:3:546:15532:86 . 1/1:-3355.62,-349.754,0:1426:28:1366:39754:791 0/1:-1058.03,0,-1191.75:1215:605:579:16545:18012 . . 0/1:-1104.7,0,-1023.84:1131:526:584:16824:15771 0/1:-620.743,0,-897.576:834:453:357:10278:13280 . 0/1:-1165.56,0,-1299.26:1283:650:603:17851:19552 . . . 0/1:-752.271,0,-632.696:768:347:401:11403:10127 0/1:-1316.96,0,-1390.85:1438:698:709:20269:21037 . 0/1:-822.137,0,-661.056:801:350:434:12361:10521 . 0/1:-1048.89,0,-971.182:1078:503:549:15782:14936 0/1:-649.558,0,-683.006:745:362:367:10164:10727 0/1:-1049.94,0,-1063.58:1148:544:588:16443:16400 . . . . . . . 0/1:-1066.72,0,-1171.08:1220:587:589:16762:17840 . 0/1:-1182.67,0,-1241.28:1276:617:635:18252:18896 . . . . . . . . . 0/1:-1158.25,0,-1165.79:1244:586:629:17764:17853 . 1/1:-2744.51,-299.883,0:1202:26:1153:32708:664 1/1:-3428.95,-321.557,0:1524:53:1425:41511:1504 0/1:-766.739,0,-1018.61:955:498:430:12176:15094 . . . . . . 0/1:-1123.69,0,-1128.6:1049:514:522:16436:16507:514,522 . . . . 0/1:-1069.23,0,-1089.26:1025:506:512:16127:16075:506,512 . 1/1:-2198.82,-199.975,0:883:24:842:26203:689:24,842 . 0/1:-931.602,0,-851.816:848:396:437:13615:12779:396,437 . 0/1:-936.993,0,-853.132:856:408:440:13676:12754:408,440 . . . 0/1:-877.226,0,-984.021:901:465:424:13310:14421:465,424 . 0/1:-1047.5,0,-864.727:913:418:480:15087:13048:418,480 chr2 179579212 . T C 8412.58 . AB=0.459364;ABP=15.1874;AC=50;AF=0.5;AN=84;AO=390;CIGAR=1X;DP=29155;DPB=849;DPRA=0;EPP=208.265;EPPR=166.427;GTI=0;LEN=1;MEANALT=3;MQM=38.4846;MQMR=39.8135;NS=1;NUMALT=1;ODDS=1648.86;PAIRED=0.984615;PAIREDR=0.959551;PAO=0;PQA=0;PQR=0;PRO=0;QA=12277;QR=13318;RO=445;RPL=280;RPP=163.922;RPPR=220.26;RPR=110;RUN=1;SAF=117;SAP=138.51;SAR=273;SF=0,1;SRF=144;SRP=123.29;SRR=301;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon88:c.A22557G:p.E7519E,TTN:NM_001256850:exon89:c.A25338G:p.E8446E,TTN:NM_001267550:exon91:c.A26289G:p.E8763E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3056;esp6500siv2_ea=0.2019;esp6500siv2_all=0.3056;esp6500siv2_ea=0.2019;1000g2015aug_all=0.483427;avsnp147=rs2562838;Kaviar_AF=0.307622;Kaviar_AC=47559;Kaviar_AN=154602;ExAC_ALL=0.3197;ExAC_AFR=0.5504;ExAC_AMR=0.4280;ExAC_EAS=0.6706;ExAC_FIN=0.2077;ExAC_NFE=0.2041;ExAC_OTH=0.2921;ExAC_SAS=0.4351;CLNALLELEID=55941;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0407;dpsi_zscore=-0.221;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3174;gnomAD_exome_AFR=0.5488;gnomAD_exome_AMR=0.4222;gnomAD_exome_ASJ=0.2012;gnomAD_exome_EAS=0.6683;gnomAD_exome_FIN=0.2039;gnomAD_exome_NFE=0.2031;gnomAD_exome_OTH=0.2704;gnomAD_exome_SAS=0.4305;gnomAD_genome_ALL=0.3269;gnomAD_genome_AFR=0.5400;gnomAD_genome_AMR=0.4093;gnomAD_genome_ASJ=0.2;gnomAD_genome_EAS=0.6507;gnomAD_genome_FIN=0.1931;gnomAD_genome_NFE=0.2030;gnomAD_genome_OTH=0.2495;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-776.501,0,-885.361:849:445:390:12277:13318 . . . . . . . . . 0/1:-745.442,0,-746.611:780:391:377:11495:11693 0/1:-693.506,0,-610.968:678:321:340:10632:9435 . . . 0/1:-594.185,0,-645.613:639:330:300:9316:9921 . 0/1:-690.802,0,-653.784:689:332:342:10531:9929 1/1:-1377.9,-155.529,0:553:6:541:16468:122 . 0/1:-1085.51,0,-791.54:961:423:523:16199:12577 . . . . . 0/1:-806.949,0,-818.998:847:423:409:12617:12576 . . . 0/1:-994.692,0,-998.977:1040:511:510:15508:15203 . . . . . 0/1:-887.367,0,-728.656:841:399:426:13289:11482 . 1/1:-561.8,-61.7049,0:227:3:221:6665:64 . 1/1:-1619.07,-165.075,0:628:9:610:19172:293 0/1:-770.798,0,-737.924:788:392:383:11760:11292 . . . 0/1:-804.799,0,-661.027:756:351:393:12154:10287 1/1:-1030.73,-111.292,0:399:3:392:12170:86 0/1:-650.328,0,-587.065:635:294:331:10013:8966 1/1:-2300.84,-230.034,0:912:14:884:27516:457 0/1:-788.784,0,-792.887:840:420:403:12277:12233 . . 0/1:-809.251,0,-745.791:778:379:390:12271:11442 0/1:-468.005,0,-572.03:560:295:255:7647:8590 . 0/1:-767.945,0,-798.917:809:405:384:11853:12009 . . . 0/1:-506.394,0,-410.677:482:222:257:7799:6539 0/1:-999.095,0,-823.198:952:439:489:14968:12917 . 0/1:-552.112,0,-510.662:562:278:279:8548:8060 . 0/1:-849.744,0,-732.211:808:385:416:12814:11433 0/1:-507.286,0,-469.858:524:252:261:7903:7389 0/1:-818.046,0,-678.078:785:362:406:12484:10644 . . . . . . . 0/1:-909.067,0,-774.959:886:409:457:13929:12130 . 0/1:-827.285,0,-724.825:820:383:417:12544:11217 . . . . . . . . . 0/1:-835.133,0,-759.618:856:421:421:12738:12047 . 1/1:-1947.25,-200.887,0:805:15:777:23795:438 1/1:-2614.98,-242.643,0:1068:28:1019:31725:849 0/1:-598.059,0,-621.821:640:322:306:9335:9433 . . . . 0/1:-629.831,0,-611.822:601:296:296:9335:9083:296,296 0/1:-578.566,0,-525.167:534:262:266:8500:7898:262,266 0/1:-570.396,0,-591.849:551:283:258:8510:8733:283,258 . . . . 0/1:-656.49,0,-494.178:585:263:309:9690:7730:263,309 . 1/1:-1272.32,-114.967,0:492:13:476:15141:398:13,476 . 0/1:-504.568,0,-413.024:450:212:230:7398:6410:212,230 . 0/1:-587.9,0,-406.548:476:209:261:8365:6418:209,261 . . . 0/1:-552.026,0,-514.448:534:261:260:8199:7720:261,260 . 0/1:-671.805,0,-475.635:535:240:289:9586:7234:240,289 chr2 179579694 . T A 3966.15 . AB=0.510436;ABP=3.50887;AC=2;AF=0.5;AN=4;AO=269;CIGAR=1X;DP=1027;DPB=527;DPRA=0;EPP=78.9634;EPPR=56.7145;GTI=0;LEN=1;MEANALT=3;MQM=36.7993;MQMR=38.2602;NS=1;NUMALT=1;ODDS=967.154;PAIRED=0.95539;PAIREDR=0.963415;PAO=0;PQA=0;PQR=0;PRO=0;QA=8059;QR=7735;RO=246;RPL=31;RPP=348.904;RPPR=335.228;RPR=238;RUN=1;SAF=214;SAP=207.088;SAR=55;SF=0;SRF=186;SRP=143.15;SRR=60;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0346;esp6500siv2_ea=0.0237;esp6500siv2_all=0.0346;esp6500siv2_ea=0.0237;1000g2015aug_all=0.0754792;avsnp147=rs2562837;Kaviar_AF=0.0453293;Kaviar_AC=7008;Kaviar_AN=154602;ExAC_ALL=0.0507;ExAC_AFR=0.0635;ExAC_AMR=0.0480;ExAC_EAS=0.2165;ExAC_FIN=0.0549;ExAC_NFE=0.0293;ExAC_OTH=0.0349;ExAC_SAS=0.0362;CLNALLELEID=141550;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8609;dpsi_zscore=-2.121;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0485;gnomAD_exome_AFR=0.0650;gnomAD_exome_AMR=0.0456;gnomAD_exome_ASJ=0.0303;gnomAD_exome_EAS=0.2107;gnomAD_exome_FIN=0.0508;gnomAD_exome_NFE=0.0260;gnomAD_exome_OTH=0.0358;gnomAD_exome_SAS=0.0294;gnomAD_genome_ALL=0.0498;gnomAD_genome_AFR=0.0638;gnomAD_genome_AMR=0.0394;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1919;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0258;gnomAD_genome_OTH=0.0448;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-496.132,0,-488.095:527:246:269:8059:7735 . . . . . . . . . . . . . . . . . . . 0/1:-445.208,0,-516.53:500:266:231:7148:8284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179579822 . T A 8626.82 . AB=0.520741;ABP=7.244;AC=50;AF=0.5;AN=84;AO=590;CIGAR=1X;DP=34066;DPB=1133;DPRA=0;EPP=57.7903;EPPR=79.2629;GTI=0;LEN=1;MEANALT=3;MQM=37.8949;MQMR=38.6166;NS=1;NUMALT=1;ODDS=2095;PAIRED=0.966102;PAIREDR=0.94605;PAO=0;PQA=0;PQR=0;PRO=0;QA=16460;QR=14986;RO=519;RPL=243;RPP=42.8182;RPPR=44.0172;RPR=347;RUN=1;SAF=295;SAP=3.0103;SAR=295;SF=0,1;SRF=248;SRP=5.22361;SRR=271;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon87:c.A22359T:p.L7453L,TTN:NM_001256850:exon88:c.A25140T:p.L8380L,TTN:NM_001267550:exon90:c.A26091T:p.L8697L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2643;esp6500siv2_ea=0.2005;esp6500siv2_all=0.2643;esp6500siv2_ea=0.2005;1000g2015aug_all=0.444489;avsnp147=rs2562836;Kaviar_AF=0.290714;Kaviar_AC=44945;Kaviar_AN=154602;ExAC_ALL=0.3062;ExAC_AFR=0.4233;ExAC_AMR=0.4175;ExAC_EAS=0.6684;ExAC_FIN=0.2073;ExAC_NFE=0.2020;ExAC_OTH=0.2856;ExAC_SAS=0.4315;CLNALLELEID=55938;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3993;dpsi_zscore=-0.983;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3079;gnomAD_exome_AFR=0.4251;gnomAD_exome_AMR=0.4155;gnomAD_exome_ASJ=0.2000;gnomAD_exome_EAS=0.6680;gnomAD_exome_FIN=0.2038;gnomAD_exome_NFE=0.2025;gnomAD_exome_OTH=0.2653;gnomAD_exome_SAS=0.4287;gnomAD_genome_ALL=0.2949;gnomAD_genome_AFR=0.4276;gnomAD_genome_AMR=0.3993;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.6520;gnomAD_genome_FIN=0.1931;gnomAD_genome_NFE=0.2030;gnomAD_genome_OTH=0.2469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1048.42,0,-930.86:1133:519:590:16460:14986 . . . . . . . . . 0/1:-689.513,0,-910.955:914:474:422:11354:13712 0/1:-799.851,0,-877.908:986:478:488:12755:13760 . . . 0/1:-611.011,0,-635.205:740:343:380:9888:10167 . 0/1:-837.561,0,-1031.8:1028:529:481:13365:15919 1/1:-1455.06,-161.71,0:710:28:669:18077:613 . 0/1:-915.038,0,-1065.34:1125:563:535:14630:16532 . . . . . 0/1:-853.624,0,-1083.96:1063:559:491:13906:16670 . . . 0/1:-1042.65,0,-1168.31:1253:614:612:16820:18103 . . . . . 0/1:-877.28,0,-846.177:975:447:506:13771:13410 . 1/1:-591.811,-60.3661,0:270:11:256:7204:289 . 1/1:-1676.23,-212.723,0:775:13:751:20198:204 0/1:-652.302,0,-964.943:879:481:380:10740:14512 . . . 0/1:-645.97,0,-979.644:910:499:392:10624:14624 1/1:-1065.19,-126.1,0:501:12:481:13012:270 0/1:-575.309,0,-836.67:804:440:352:9611:12901 1/1:-2466.88,-246.843,0:1159:46:1100:30053:1168 0/1:-745.641,0,-1021.59:996:534:440:12123:15501 . . 0/1:-847.798,0,-858.195:1012:486:504:13411:13878 0/1:-545.124,0,-588.288:686:335:338:9083:9505 . 0/1:-760.342,0,-895.965:922:462:454:12196:13823 . . . 0/1:-629.129,0,-494.703:665:285:364:9752:8226 0/1:-1005.29,0,-1020.82:1158:552:586:15795:16212 . 0/1:-448.536,0,-592.768:609:317:283:7494:9353 . 0/1:-874.83,0,-812.836:948:441:489:13540:13081 0/1:-351.804,0,-492.167:508:271:228:6087:7825 0/1:-690.417,0,-1023.91:964:518:422:11508:15308 . . . . . . . 0/1:-819.413,0,-854.669:965:469:478:13071:13522 . 0/1:-707.477,0,-1042.57:1023:549:449:11895:15971 . . . . . . . . . 0/1:-809.835,0,-934.025:978:490:460:12983:14585 . 1/1:-2011.42,-223.748,0:930:31:891:24458:637 1/1:-2620.18,-250.485,0:1278:70:1194:32662:1590 0/1:-644.931,0,-989.636:915:495:400:10712:14797 . . . . 0/1:-443.608,0,-601.88:515:278:232:6924:8812:278,232 0/1:-565.023,0,-410.36:488:209:276:8262:6459:209,276 0/1:-469.504,0,-515.819:498:249:240:7123:7796:249,240 . . . . 0/1:-421.302,0,-479.233:448:225:220:6505:7136:225,220 . 1/1:-1182.36,-134.22,0:486:8:477:13801:141:8,477 . 0/1:-383.009,0,-521.421:432:237:194:5970:7583:237,194 . 0/1:-394.408,0,-421.863:412:201:205:6037:6327:201,205 . . . 0/1:-489.449,0,-488.087:499:241:252:7379:7485:241,252 . 0/1:-511.628,0,-518.887:506:246:255:7688:7799:246,255 chr2 179579977 . G A 2204.06 . AB=0.465909;ABP=5.67529;AC=9;AF=0.5;AN=18;AO=123;CIGAR=1X;DP=2358;DPB=264;DPRA=0;EPP=27.179;EPPR=20.5268;GTI=0;LEN=1;MEANALT=2;MQM=37.6179;MQMR=39.4;NS=1;NUMALT=1;ODDS=457.08;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3459;QR=3685;RO=135;RPL=51;RPP=10.7958;RPPR=10.1038;RPR=72;RUN=1;SAF=38;SAP=42.0085;SAR=85;SF=0,1;SRF=49;SRP=25.0306;SRR=86;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon87:c.C22204T:p.R7402C,TTN:NM_001256850:exon88:c.C24985T:p.R8329C,TTN:NM_001267550:exon90:c.C25936T:p.R8646C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0223;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0223;1000g2015aug_all=0.00938498;avsnp147=rs72648987;Kaviar_AF=0.0163905;Kaviar_AC=2534;Kaviar_AN=154602;ExAC_ALL=0.0167;ExAC_AFR=0.0039;ExAC_AMR=0.0135;ExAC_EAS=0.0001;ExAC_FIN=0.0241;ExAC_NFE=0.0207;ExAC_OTH=0.0227;ExAC_SAS=0.0158;CLNALLELEID=55935;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.175;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.125;MutationAssessor_pred=L;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=-3.05;PROVEAN_pred=D;VEST3_score=0.281;CADD_raw=3.568;CADD_phred=23.1;DANN_score=0.848;fathmm-MKL_coding_score=0.597;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.64;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.064;phastCons7way_vertebrate=0.977;phastCons20way_mammalian=0.527;SiPhy_29way_logOdds=8.459;GDI_full_10282015=.;dpsi_max_tissue=-0.9856;dpsi_zscore=-1.463;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0165;gnomAD_exome_AFR=0.0038;gnomAD_exome_AMR=0.0143;gnomAD_exome_ASJ=0.0129;gnomAD_exome_EAS=5.958e-05;gnomAD_exome_FIN=0.0211;gnomAD_exome_NFE=0.0211;gnomAD_exome_OTH=0.0194;gnomAD_exome_SAS=0.0146;gnomAD_genome_ALL=0.0165;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0190;gnomAD_genome_NFE=0.0256;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-211.842,0,-240.651:264:135:123:3459:3685 0/1:-236.316,0,-338.749:337:185:143:4051:5240 . . . . . . . . 0/1:-201.274,0,-241.897:249:124:113:3238:3669 . . . 0/1:-200.332,0,-230.308:235:120:111:3149:3456 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-263.575,0,-229.485:292:132:155:4272:3819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-340.84,0,-266.861:347:157:187:5355:4403 . . . . . . . . . . . . . . . 0/1:-240.433,0,-223.869:262:124:132:3721:3639 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-208.673,0,-181.22:191:88:99:3026:2729:88,99 . 0/1:-159.062,0,-197.818:181:95:84:2537:2858:95,84 . . . . . chr2 179580210 . G A 4423.53 . AB=0.446746;ABP=11.3364;AC=7;AF=0.5;AN=12;AO=151;CIGAR=1X;DP=2644;DPB=338;DPRA=0;EPP=11.9982;EPPR=17.1127;GTI=0;LEN=1;MEANALT=3;MQM=35.3179;MQMR=37.5562;NS=1;NUMALT=1;ODDS=507.966;PAIRED=0.960265;PAIREDR=0.988764;PAO=0;PQA=0;PQR=0;PRO=0;QA=4307;QR=5541;RO=178;RPL=39;RPP=79.6446;RPPR=110.803;RPR=112;RUN=1;SAF=111;SAP=75.503;SAR=40;SF=0,1;SRF=130;SRP=85.0383;SRR=48;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0614;esp6500siv2_ea=0.0251;esp6500siv2_all=0.0614;esp6500siv2_ea=0.0251;1000g2015aug_all=0.111422;avsnp147=rs10183237;Kaviar_AF=0.0703484;Kaviar_AC=10876;Kaviar_AN=154602;ExAC_ALL=0.0761;ExAC_AFR=0.1535;ExAC_AMR=0.1925;ExAC_EAS=0.0277;ExAC_FIN=0.0585;ExAC_NFE=0.0278;ExAC_OTH=0.0897;ExAC_SAS=0.1895;CLNALLELEID=55934;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4631;dpsi_zscore=-1.054;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0785;gnomAD_exome_AFR=0.1502;gnomAD_exome_AMR=0.1902;gnomAD_exome_ASJ=0.0408;gnomAD_exome_EAS=0.0278;gnomAD_exome_FIN=0.0575;gnomAD_exome_NFE=0.0263;gnomAD_exome_OTH=0.0620;gnomAD_exome_SAS=0.1670;gnomAD_genome_ALL=0.0697;gnomAD_genome_AFR=0.1516;gnomAD_genome_AMR=0.1695;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0.0333;gnomAD_genome_FIN=0.0536;gnomAD_genome_NFE=0.0254;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-244.331,0,-357.55:338:178:151:4307:5541 . 0/1:-372.726,0,-574.239:515:277:226:6294:8707 . . . . . . . . . . . . . . . . . . . . . . 1/1:-1012.5,-107.726,0:452:10:432:12289:288 . . . . . . 0/1:-258.028,0,-422.364:380:210:159:4453:6412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-351.139,0,-552.614:439:251:181:5659:7968:251,181 0/1:-512.888,0,-578.096:520:269:248:7718:8740:269,248 . . . . . . . . . . . . . . . . . . chr2 179580434 . A G 12218.10 . AB=0.483582;ABP=6.14759;AC=1;AF=0.5;AN=2;AO=648;CIGAR=1X;DP=1340;DPB=1340;DPRA=0;EPP=16.7362;EPPR=30.3801;GTI=0;LEN=1;MEANALT=3;MQM=39.5849;MQMR=40.1081;NS=1;NUMALT=1;ODDS=2813.32;PAIRED=0.978395;PAIREDR=0.980213;PAO=0;PQA=0;PQR=0;PRO=0;QA=19139;QR=20934;RO=657;RPL=340;RPP=6.44176;RPPR=10.3113;RPR=308;RUN=1;SAF=240;SAP=97.59;SAR=408;SF=0;SRF=263;SRP=59.7297;SRR=394;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon86:c.T21975C:p.Y7325Y,TTN:NM_001256850:exon87:c.T24756C:p.Y8252Y,TTN:NM_001267550:exon89:c.T25707C:p.Y8569Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0164;esp6500siv2_ea=0.0215;esp6500siv2_all=0.0164;esp6500siv2_ea=0.0215;1000g2015aug_all=0.0507188;avsnp147=rs2742329;Kaviar_AF=0.0359374;Kaviar_AC=5556;Kaviar_AN=154602;ExAC_ALL=0.0543;ExAC_AFR=0.0051;ExAC_AMR=0.0724;ExAC_EAS=0.2703;ExAC_FIN=0.0722;ExAC_NFE=0.0395;ExAC_OTH=0.0390;ExAC_SAS=0.0114;CLNALLELEID=55931;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5376;dpsi_zscore=1.169;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0391;gnomAD_exome_AFR=0.0051;gnomAD_exome_AMR=0.0420;gnomAD_exome_ASJ=0.0252;gnomAD_exome_EAS=0.2101;gnomAD_exome_FIN=0.0509;gnomAD_exome_NFE=0.024;gnomAD_exome_OTH=0.0318;gnomAD_exome_SAS=0.0084;gnomAD_genome_ALL=0.0315;gnomAD_genome_AFR=0.0052;gnomAD_genome_AMR=0.0346;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.1906;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0236;gnomAD_genome_OTH=0.0358;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1241.26,0,-1401.25:1340:657:648:19139:20934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179580481 . T C 8415.02 . AB=0.505365;ABP=3.24329;AC=1;AF=0.5;AN=2;AO=471;CIGAR=1X;DP=932;DPB=932;DPRA=0;EPP=51.9214;EPPR=55.0129;GTI=0;LEN=1;MEANALT=3;MQM=38.8429;MQMR=39.8465;NS=1;NUMALT=1;ODDS=1937.63;PAIRED=0.983015;PAIREDR=0.977427;PAO=0;PQA=0;PQR=0;PRO=0;QA=14410;QR=14142;RO=443;RPL=401;RPP=508.124;RPPR=412.409;RPR=70;RUN=1;SAF=120;SAP=249.023;SAR=351;SF=0;SRF=107;SRP=260.063;SRR=336;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon86:c.A21928G:p.K7310E,TTN:NM_001256850:exon87:c.A24709G:p.K8237E,TTN:NM_001267550:exon89:c.A25660G:p.K8554E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs201945791;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=272182;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.626;SIFT_pred=T;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.88;MutationAssessor_pred=L;FATHMM_score=1.0;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_pred=N;VEST3_score=0.538;CADD_raw=2.960;CADD_phred=22.1;DANN_score=0.948;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.633;MetaSVM_pred=T;MetaLR_score=0.234;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.33;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.597;GDI_full_10282015=.;dpsi_max_tissue=-0.9484;dpsi_zscore=-1.441;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-935.791,0,-928.939:932:443:471:14410:14142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179581835 . C A 2222.22 . AB=0.45122;ABP=9.78953;AC=1;AF=0.5;AN=2;AO=148;CIGAR=1X;DP=328;DPB=328;DPRA=0;EPP=18.0345;EPPR=46.4397;GTI=0;LEN=1;MEANALT=1;MQM=39.0608;MQMR=39.3389;NS=1;NUMALT=1;ODDS=511.685;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4343;QR=5840;RO=180;RPL=57;RPP=19.9713;RPPR=58.793;RPR=91;RUN=1;SAF=147;SAP=315.761;SAR=1;SF=0;SRF=176;SRP=359.904;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.G21894T:p.Q7298H,TTN:NM_001256850:exon86:c.G24675T:p.Q8225H,TTN:NM_001267550:exon88:c.G25626T:p.Q8542H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0214;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0214;1000g2015aug_all=0.0513179;avsnp147=rs2562832;Kaviar_AF=0.0369853;Kaviar_AC=5718;Kaviar_AN=154602;ExAC_ALL=0.0397;ExAC_AFR=0.0040;ExAC_AMR=0.0441;ExAC_EAS=0.2153;ExAC_FIN=0.0549;ExAC_NFE=0.0268;ExAC_OTH=0.0309;ExAC_SAS=0.0099;CLNALLELEID=55928;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.593;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.325;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-2.13;PROVEAN_pred=N;VEST3_score=0.206;CADD_raw=0.191;CADD_phred=4.588;DANN_score=0.732;fathmm-MKL_coding_score=0.060;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.000;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-7.84;phyloP7way_vertebrate=-0.926;phyloP20way_mammalian=-0.889;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=1.190;GDI_full_10282015=.;dpsi_max_tissue=0.4332;dpsi_zscore=1.060;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0390;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0420;gnomAD_exome_ASJ=0.0261;gnomAD_exome_EAS=0.2103;gnomAD_exome_FIN=0.0509;gnomAD_exome_NFE=0.0237;gnomAD_exome_OTH=0.0309;gnomAD_exome_SAS=0.0086;gnomAD_genome_ALL=0.0316;gnomAD_genome_AFR=0.0053;gnomAD_genome_AMR=0.0358;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.1899;gnomAD_genome_FIN=0.0564;gnomAD_genome_NFE=0.0236;gnomAD_genome_OTH=0.0377;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-274.209,0,-399.307:328:180:148:4343:5840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179581971 . C T 8068.96 . AB=0.496711;ABP=3.09602;AC=1;AF=0.5;AN=2;AO=453;CIGAR=1X;DP=912;DPB=912;DPRA=0;EPP=53.8649;EPPR=51.2702;GTI=0;LEN=1;MEANALT=3;MQM=38.6159;MQMR=38.8707;NS=1;NUMALT=1;ODDS=1857.95;PAIRED=0.971302;PAIREDR=0.970522;PAO=0;PQA=0;PQR=0;PRO=0;QA=12859;QR=13257;RO=441;RPL=244;RPP=8.88238;RPPR=14.8328;RPR=209;RUN=1;SAF=283;SAP=64.219;SAR=170;SF=0;SRF=288;SRP=92.7497;SRR=153;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.G21758A:p.R7253H,TTN:NM_001256850:exon86:c.G24539A:p.R8180H,TTN:NM_001267550:exon88:c.G25490A:p.R8497H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs149855485;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0232;CLNALLELEID=55924;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.043;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.683;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.105;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_pred=N;VEST3_score=0.381;CADD_raw=2.691;CADD_phred=20.8;DANN_score=0.866;fathmm-MKL_coding_score=0.817;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.418;MetaSVM_pred=T;MetaLR_score=0.313;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.52;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.812;GDI_full_10282015=.;dpsi_max_tissue=-0.4139;dpsi_zscore=-1.000;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0221;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-826.661,0,-850.828:912:441:453:12859:13257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179582063 . A T 9541.90 . AB=0.477544;ABP=7.78913;AC=1;AF=0.5;AN=2;AO=521;CIGAR=1X;DP=1091;DPB=1091;DPRA=0;EPP=27.7217;EPPR=17.6216;GTI=0;LEN=1;MEANALT=3;MQM=39.1401;MQMR=39.8047;NS=1;NUMALT=1;ODDS=2197.1;PAIRED=0.950096;PAIREDR=0.972875;PAO=0;PQA=0;PQR=0;PRO=0;QA=15206;QR=17011;RO=553;RPL=230;RPP=18.519;RPPR=72.4699;RPR=291;RUN=1;SAF=226;SAP=22.8536;SAR=295;SF=0;SRF=242;SRP=21.7054;SRR=311;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.T21666A:p.D7222E,TTN:NM_001256850:exon86:c.T24447A:p.D8149E,TTN:NM_001267550:exon88:c.T25398A:p.D8466E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0236;esp6500siv2_ea=0.0027;esp6500siv2_all=0.0236;esp6500siv2_ea=0.0027;1000g2015aug_all=0.028754;avsnp147=rs72648986;Kaviar_AF=0.0103492;Kaviar_AC=1600;Kaviar_AN=154602;ExAC_ALL=0.0112;ExAC_AFR=0.0749;ExAC_AMR=0.0049;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0024;ExAC_OTH=0.0100;ExAC_SAS=0.0235;CLNALLELEID=55923;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.423;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.225;MutationAssessor_pred=N;FATHMM_score=-0.07;FATHMM_pred=T;PROVEAN_score=-1.66;PROVEAN_pred=N;VEST3_score=0.107;CADD_raw=0.979;CADD_phred=10.54;DANN_score=0.841;fathmm-MKL_coding_score=0.705;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.108;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.59;phyloP7way_vertebrate=0.090;phyloP20way_mammalian=0.237;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=11.165;GDI_full_10282015=.;dpsi_max_tissue=0.4310;dpsi_zscore=1.058;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0095;gnomAD_exome_AFR=0.0754;gnomAD_exome_AMR=0.0047;gnomAD_exome_ASJ=0.0064;gnomAD_exome_EAS=5.803e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0222;gnomAD_genome_ALL=0.0232;gnomAD_genome_AFR=0.0763;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-968.394,0,-1132.4:1091:553:521:15206:17011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179582327 . C T 14222.59 . AB=0.450247;ABP=33.4768;AC=41;AF=0.5;AN=68;AO=638;CIGAR=1X;DP=44149;DPB=1417;DPRA=0;EPP=42.7094;EPPR=25.3114;GTI=0;LEN=1;MEANALT=3;MQM=38.8213;MQMR=39.8847;NS=1;NUMALT=1;ODDS=2617.71;PAIRED=0.952978;PAIREDR=0.949796;PAO=0;PQA=0;PQR=0;PRO=0;QA=19008;QR=22861;RO=737;RPL=175;RPP=285.315;RPPR=152.17;RPR=463;RUN=1;SAF=422;SAP=147.444;SAR=216;SF=0,1;SRF=488;SRP=171.31;SRR=249;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon84:c.G21542A:p.S7181N,TTN:NM_001256850:exon85:c.G24323A:p.S8108N,TTN:NM_001267550:exon87:c.G25274A:p.S8425N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1546;esp6500siv2_ea=0.1508;esp6500siv2_all=0.1546;esp6500siv2_ea=0.1508;1000g2015aug_all=0.24381;avsnp147=rs13390491;Kaviar_AF=0.17503;Kaviar_AC=27060;Kaviar_AN=154602;ExAC_ALL=0.1784;ExAC_AFR=0.1661;ExAC_AMR=0.1756;ExAC_EAS=0.4264;ExAC_FIN=0.0929;ExAC_NFE=0.1461;ExAC_OTH=0.1553;ExAC_SAS=0.2257;CLNALLELEID=55921;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.257;SIFT_pred=T;Polyphen2_HDIV_score=0.154;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.89;MutationAssessor_pred=L;FATHMM_score=-0.36;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_pred=N;VEST3_score=0.096;CADD_raw=1.700;CADD_phred=14.41;DANN_score=0.866;fathmm-MKL_coding_score=0.511;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.994;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.51;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=10.360;GDI_full_10282015=.;dpsi_max_tissue=0.1482;dpsi_zscore=0.612;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1767;gnomAD_exome_AFR=0.1662;gnomAD_exome_AMR=0.1739;gnomAD_exome_ASJ=0.1220;gnomAD_exome_EAS=0.4284;gnomAD_exome_FIN=0.0946;gnomAD_exome_NFE=0.1496;gnomAD_exome_OTH=0.1620;gnomAD_exome_SAS=0.2218;gnomAD_genome_ALL=0.1614;gnomAD_genome_AFR=0.1646;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.4197;gnomAD_genome_FIN=0.0822;gnomAD_genome_NFE=0.1515;gnomAD_genome_OTH=0.1408;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-1194.47,0,-1545.06:1417:737:638:19008:22861 0/1:-1165.08,0,-1353.89:1309:672:605:18017:20609 . . . . . . 1/1:-2314.78,-267.741,0:974:6:938:27636:186 . . . . . . . 0/1:-1416.53,0,-1892.07:1701:906:761:22549:28260 . . . 0/1:-1372.98,0,-1778.91:1624:831:747:21866:26342 . . . . . 0/1:-1139.01,0,-1529.5:1359:709:615:18192:22547 . 1/1:-997.535,-106.576,0:430:6:409:11929:208 . . 0/1:-1336.44,0,-1464.4:1457:714:701:20827:22349 . . . 0/1:-1193.49,0,-1317.65:1303:646:622:18492:20187 1/1:-1786.96,-202.647,0:737:7:716:21156:180 . 1/1:-3637.65,-346.496,0:1570:41:1493:44222:1355 0/1:-1342.48,0,-1549.92:1491:746:704:20985:23372 . . 0/1:-1425.72,0,-1518.69:1522:740:750:22152:23272 0/1:-861.756,0,-1165.16:1115:586:494:14333:17798 . 0/1:-1122.8,0,-1616.86:1440:780:624:18197:24017 . . . 0/1:-809.16,0,-1031.88:997:512:458:13182:15780 0/1:-1467.77,0,-1825.19:1738:892:797:23564:27478 . 0/1:-811.536,0,-1058.84:980:517:434:13099:16130 . 0/1:-1303.45,0,-1580.69:1476:759:676:20377:23503 0/1:-663.684,0,-823.266:808:404:377:10916:12602 0/1:-1218.92,0,-1553.64:1395:725:639:19140:22938 . . . . . . . 0/1:-1448.78,0,-1651.7:1619:805:771:22566:25240 . 0/1:-1113.48,0,-1744.76:1475:826:609:18172:25869 . . . . . . . . . 0/1:-1240.73,0,-1592.25:1465:760:664:19727:23604 . 1/1:-3010.29,-302.445,0:1322:31:1254:36659:1015 1/1:-3920.02,-358.69,0:1720:59:1614:47973:1750 0/1:-1018.15,0,-1411.2:1251:674:549:16278:20999 . . . . . . 0/1:-1492.57,0,-1514.24:1455:704:723:22202:22467:704,723 . . . . 0/1:-1193.65,0,-1528.78:1318:700:592:18183:22325:700,592 . 1/1:-2879.08,-294.515,0:1153:18:1110:33853:552:18,1110 . 0/1:-967.084,0,-1174.52:1035:532:481:14708:17178:532,481 . 0/1:-925.674,0,-1414.29:1123:627:474:14573:20098:627,474 . . . 0/1:-1146.2,0,-1358.26:1217:625:575:17543:19914:625,575 . 0/1:-1021.5,0,-1357.45:1153:609:521:15849:19535:609,521 chr2 179582537 . G T 6687.72 . AB=0.500626;ABP=3.01302;AC=50;AF=0.5;AN=84;AO=400;CIGAR=1X;DP=27130;DPB=799;DPRA=0;EPP=17.6895;EPPR=29.8795;GTI=0;LEN=1;MEANALT=3;MQM=38.94;MQMR=39.1818;NS=1;NUMALT=1;ODDS=1446.4;PAIRED=0.9725;PAIREDR=0.984848;PAO=0;PQA=0;PQR=0;PRO=0;QA=10744;QR=11742;RO=396;RPL=273;RPP=118.728;RPPR=165.235;RPR=127;RUN=1;SAF=93;SAP=251.622;SAR=307;SF=0,1;SRF=103;SRP=200.965;SRR=293;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon84:c.C21332A:p.A7111E,TTN:NM_001256850:exon85:c.C24113A:p.A8038E,TTN:NM_001267550:exon87:c.C25064A:p.A8355E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2658;esp6500siv2_ea=0.2018;esp6500siv2_all=0.2658;esp6500siv2_ea=0.2018;1000g2015aug_all=0.444888;avsnp147=rs2627043;Kaviar_AF=0.294537;Kaviar_AC=45536;Kaviar_AN=154602;ExAC_ALL=0.3088;ExAC_AFR=0.4248;ExAC_AMR=0.4185;ExAC_EAS=0.6658;ExAC_FIN=0.2059;ExAC_NFE=0.2037;ExAC_OTH=0.2867;ExAC_SAS=0.4484;CLNALLELEID=55915;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.991;MutationTaster_pred=P;MutationAssessor_score=-1.045;MutationAssessor_pred=N;FATHMM_score=1.14;FATHMM_pred=T;PROVEAN_score=2.66;PROVEAN_pred=N;VEST3_score=0.255;CADD_raw=2.566;CADD_phred=19.89;DANN_score=0.865;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.990;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.086;phyloP20way_mammalian=0.152;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.684;GDI_full_10282015=.;dpsi_max_tissue=0.2661;dpsi_zscore=0.839;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3076;gnomAD_exome_AFR=0.4232;gnomAD_exome_AMR=0.4137;gnomAD_exome_ASJ=0.2015;gnomAD_exome_EAS=0.6659;gnomAD_exome_FIN=0.2022;gnomAD_exome_NFE=0.2023;gnomAD_exome_OTH=0.2657;gnomAD_exome_SAS=0.4307;gnomAD_genome_ALL=0.2945;gnomAD_genome_AFR=0.4276;gnomAD_genome_AMR=0.4021;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.6465;gnomAD_genome_FIN=0.1914;gnomAD_genome_NFE=0.2029;gnomAD_genome_OTH=0.2459;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-675.329,0,-754.434:799:396:400:10744:11742 . . . . . . . . . 0/1:-561.138,0,-677.003:667:346:319:9072:10144 0/1:-542.886,0,-612.354:615:314:301:8649:9275 . . . 0/1:-503.421,0,-488.43:565:264:298:8031:7829 . 0/1:-735.254,0,-651.369:766:349:413:11421:10383 1/1:-1074.36,-126.789,0:486:14:471:12996:216 . 0/1:-714.32,0,-759.264:811:395:416:11374:11785 . . . . . 0/1:-736.848,0,-840.434:866:441:420:11725:12972 . . . 0/1:-647.31,0,-763.38:789:404:385:10595:11684 . . . . . 0/1:-572.32,0,-656.281:701:351:348:9268:10208 . 1/1:-424.236,-26.4329,0:212:19:192:5378:429 . 1/1:-1317.87,-140.331,0:600:22:575:15815:500 0/1:-622.455,0,-660.314:715:356:357:9968:10434 . . . 0/1:-672.969,0,-630.973:721:341:377:10319:10018 1/1:-922.673,-104.508,0:415:11:401:11042:219 0/1:-474.198,0,-542.521:585:286:298:7779:8456 1/1:-1710.14,-159.114,0:761:32:727:20870:797 0/1:-566.842,0,-760.707:727:383:343:9446:11432 . . 0/1:-544.249,0,-740.487:711:387:321:9021:11219 0/1:-415.479,0,-503.989:535:274:261:7029:7849 . 0/1:-612.161,0,-697.637:719:365:353:9734:10774 . . . 0/1:-428.028,0,-539.104:532:273:257:7110:8170 0/1:-846.713,0,-935.226:953:477:475:13288:14277 . 0/1:-441.745,0,-557.488:556:286:270:7392:8537 . 0/1:-576.557,0,-712.083:707:372:333:9115:10919 0/1:-283.512,0,-403.512:389:208:180:4850:6211 0/1:-658.877,0,-735.749:759:383:372:10288:11390 . . . . . . . 0/1:-657.2,0,-780.737:812:418:392:10731:12155 . 0/1:-659.714,0,-768.534:789:406:379:10711:12001 . . . . . . . . . 0/1:-698.953,0,-750.357:771:384:386:10923:11415 . 1/1:-1470.75,-139.744,0:699:43:655:18151:856 1/1:-1777.8,-155.584,0:815:45:770:21959:1067 0/1:-620.639,0,-615.091:673:320:350:9692:9655 . . . . 0/1:-556.412,0,-501.975:511:241:269:8200:7635:241,269 0/1:-609.062,0,-689.021:641:330:311:9244:10248:330,311 0/1:-551.651,0,-681.244:614:324:289:8547:10107:324,289 . . . . 0/1:-491.253,0,-721.152:604:339:263:7773:10560:339,263 . 1/1:-1148.76,-107.573,0:480:19:461:13640:421:19,461 . 0/1:-446.427,0,-497.304:455:231:223:6767:7315:231,223 . 0/1:-462.967,0,-698.748:555:316:238:7306:9977:316,238 . . . 0/1:-554.287,0,-568.887:564:274:289:8461:8479:274,289 . 0/1:-424.997,0,-570.479:485:262:222:6628:8324:262,222 chr2 179582781 . C T 10871.60 . AB=0.483347;ABP=5.97557;AC=1;AF=0.5;AN=2;AO=595;CIGAR=1X;DP=1231;DPB=1231;DPRA=0;EPP=44.7938;EPPR=43.2721;GTI=0;LEN=1;MEANALT=3;MQM=39.3731;MQMR=39.7558;NS=1;NUMALT=1;ODDS=2503.29;PAIRED=0.97479;PAIREDR=0.966997;PAO=0;PQA=0;PQR=0;PRO=0;QA=17201;QR=18222;RO=606;RPL=223;RPP=84.0336;RPPR=85.7986;RPR=372;RUN=1;SAF=365;SAP=69.523;SAR=230;SF=0;SRF=375;SRP=77.3134;SRR=231;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.G21220A:p.V7074I,TTN:NM_001256850:exon84:c.G24001A:p.V8001I,TTN:NM_001267550:exon86:c.G24952A:p.V8318I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000199681;avsnp147=rs200103997;Kaviar_AF=0.0006468;Kaviar_AC=100;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0013;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=173357;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.574;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.675;MutationAssessor_pred=N;FATHMM_score=-0.16;FATHMM_pred=T;PROVEAN_score=-0.55;PROVEAN_pred=N;VEST3_score=0.077;CADD_raw=-0.035;CADD_phred=2.265;DANN_score=0.764;fathmm-MKL_coding_score=0.060;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.962;MetaSVM_pred=T;MetaLR_score=0.136;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=1.13;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.979;SiPhy_29way_logOdds=8.489;GDI_full_10282015=.;dpsi_max_tissue=-0.7083;dpsi_zscore=-1.276;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1113.87,0,-1201.1:1231:606:595:17201:18222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179582824 . C T 9439.80 . AB=0.466465;ABP=19.1763;AC=4;AF=0.5;AN=8;AO=772;CIGAR=1X;DP=4295;DPB=1655;DPRA=0;EPP=294.651;EPPR=321.199;GTI=0;LEN=1;MEANALT=3;MQM=39.8588;MQMR=40.7847;NS=1;NUMALT=1;ODDS=3245.99;PAIRED=0.993523;PAIREDR=0.989234;PAO=0;PQA=0;PQR=0;PRO=0;QA=22493;QR=25101;RO=836;RPL=485;RPP=113.283;RPPR=76.3209;RPR=287;RUN=1;SAF=392;SAP=3.41534;SAR=380;SF=0,1;SRF=417;SRP=3.02069;SRR=419;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.G21177A:p.K7059K,TTN:NM_001256850:exon84:c.G23958A:p.K7986K,TTN:NM_001267550:exon86:c.G24909A:p.K8303K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0069;1000g2015aug_all=0.0235623;avsnp147=rs72648983;Kaviar_AF=0.0129623;Kaviar_AC=2004;Kaviar_AN=154602;ExAC_ALL=0.0137;ExAC_AFR=0.0385;ExAC_AMR=0.0074;ExAC_EAS=0.0058;ExAC_FIN=0.0165;ExAC_NFE=0.0109;ExAC_OTH=0.0111;ExAC_SAS=0.0176;CLNALLELEID=55908;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4137;dpsi_zscore=-0.999;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0130;gnomAD_exome_AFR=0.0384;gnomAD_exome_AMR=0.0092;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0.0064;gnomAD_exome_FIN=0.0183;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0174;gnomAD_genome_ALL=0.0171;gnomAD_genome_AFR=0.0379;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0069;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-1459.81,0,-1701.81:1655:836:772:22493:25101 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-531.337,0,-466.324:528:248:267:7888:7168 . . . . . . . 0/1:-787.286,0,-979.227:913:477:407:12103:14469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1240.43,0,-1223.49:1199:586:593:18345:18197:586,593 . . . . . . . . chr2 179582853 . T C 11557.48 . AB=0.462116;ABP=21.2729;AC=5;AF=0.5;AN=10;AO=677;CIGAR=1X;DP=6931;DPB=1465;DPRA=0;EPP=117.585;EPPR=148.945;GTI=0;LEN=1;MEANALT=3;MQM=40.7578;MQMR=40.1184;NS=1;NUMALT=1;ODDS=2866.16;PAIRED=0.980798;PAIREDR=0.963158;PAO=0;PQA=0;PQR=0;PRO=0;QA=19596;QR=22378;RO=760;RPL=437;RPP=127.49;RPPR=99.7437;RPR=240;RUN=1;SAF=293;SAP=29.5715;SAR=384;SF=0,1;SRF=329;SRP=32.7366;SRR=431;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.A21148G:p.R7050G,TTN:NM_001256850:exon84:c.A23929G:p.R7977G,TTN:NM_001267550:exon86:c.A24880G:p.R8294G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0230;esp6500siv2_ea=0.0308;esp6500siv2_all=0.0230;esp6500siv2_ea=0.0308;1000g2015aug_all=0.0121805;avsnp147=rs72648982;Kaviar_AF=0.0214616;Kaviar_AC=3318;Kaviar_AN=154602;ExAC_ALL=0.0210;ExAC_AFR=0.0058;ExAC_AMR=0.0088;ExAC_EAS=0;ExAC_FIN=0.0130;ExAC_NFE=0.0297;ExAC_OTH=0.0325;ExAC_SAS=0.0171;CLNALLELEID=55907;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.075;SIFT_pred=T;Polyphen2_HDIV_score=0.153;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.14;MutationAssessor_pred=M;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=-3.53;PROVEAN_pred=D;VEST3_score=0.36;CADD_raw=1.513;CADD_phred=13.38;DANN_score=0.893;fathmm-MKL_coding_score=0.340;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.759;MetaSVM_pred=T;MetaLR_score=0.121;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=13.612;GDI_full_10282015=.;dpsi_max_tissue=1.4069;dpsi_zscore=1.736;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0221;gnomAD_exome_AFR=0.0057;gnomAD_exome_AMR=0.0109;gnomAD_exome_ASJ=0.0511;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0196;gnomAD_exome_NFE=0.0299;gnomAD_exome_OTH=0.0298;gnomAD_exome_SAS=0.0176;gnomAD_genome_ALL=0.0184;gnomAD_genome_AFR=0.0066;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0160;gnomAD_genome_NFE=0.0260;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1280.88,0,-1489.62:1465:760:677:19596:22378 . . . . . . 0/1:-1394.18,0,-1874.16:1798:979:778:22273:27846 . . . . 0/1:-972.155,0,-1282.97:1236:662:553:15386:19109 . . . . . . . . . 0/1:-1456.96,0,-1490.84:1640:797:806:22562:22781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-772.309,0,-781.043:792:401:381:11631:11688:401,381 . . . . . . . . . . . . . . . . chr2 179583317 . G A 7054.13 . AB=0.465839;ABP=7.90623;AC=35;AF=0.5;AN=62;AO=225;CIGAR=1X;DP=20170;DPB=483;DPRA=0;EPP=20.855;EPPR=15.8611;GTI=0;LEN=1;MEANALT=3;MQM=39.5644;MQMR=39.3074;NS=1;NUMALT=1;ODDS=962.833;PAIRED=0.995556;PAIREDR=0.987705;PAO=0;PQA=0;PQR=0;PRO=0;QA=6631;QR=7063;RO=244;RPL=107;RPP=4.17807;RPPR=8.1364;RPR=118;RUN=1;SAF=114;SAP=3.09716;SAR=111;SF=0,1;SRF=141;SRP=15.8611;SRR=103;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon82:c.C20784T:p.T6928T,TTN:NM_001256850:exon83:c.C23565T:p.T7855T,TTN:NM_001267550:exon85:c.C24516T:p.T8172T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0981;esp6500siv2_ea=0.1101;esp6500siv2_all=0.0981;esp6500siv2_ea=0.1101;1000g2015aug_all=0.0734824;avsnp147=rs72648978;Kaviar_AF=0.0885305;Kaviar_AC=13687;Kaviar_AN=154602;ExAC_ALL=0.0897;ExAC_AFR=0.0773;ExAC_AMR=0.0425;ExAC_EAS=0.0210;ExAC_FIN=0.0924;ExAC_NFE=0.1051;ExAC_OTH=0.0890;ExAC_SAS=0.1033;CLNALLELEID=55899;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0720;dpsi_zscore=0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0881;gnomAD_exome_AFR=0.0757;gnomAD_exome_AMR=0.0443;gnomAD_exome_ASJ=0.0665;gnomAD_exome_EAS=0.0206;gnomAD_exome_FIN=0.0987;gnomAD_exome_NFE=0.1091;gnomAD_exome_OTH=0.0882;gnomAD_exome_SAS=0.1030;gnomAD_genome_ALL=0.0931;gnomAD_genome_AFR=0.0791;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0.0225;gnomAD_genome_FIN=0.0972;gnomAD_genome_NFE=0.1114;gnomAD_genome_OTH=0.0967;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-427.49,0,-464.093:483:244:225:6631:7063 . 1/1:-1630.26,-173.245,0:706:13:683:19721:417 . 0/1:-674.77,0,-655.741:736:349:370:10677:10118 . 0/1:-577.937,0,-646.378:692:346:330:9271:10119 . . . . . . 0/1:-505.243,0,-402.023:520:223:282:7818:6512 . 0/1:-659.639,0,-578.648:690:312:365:10394:9075 . 0/1:-390.051,0,-381.768:421:200:207:6085:5913 . . 0/1:-654.022,0,-721.823:757:368:359:10249:11041 . . . . . 0/1:-477.819,0,-476.339:505:250:244:7290:7303 0/1:-560.967,0,-537.626:597:287:294:8647:8434 . . . 0/1:-711.479,0,-597.385:728:324:378:10857:9456 0/1:-745.162,0,-762.317:813:395:396:11446:11761 . . . . 0/1:-742.23,0,-695.253:787:368:404:11327:10967 . 0/1:-644.18,0,-637.694:710:347:344:9976:10078 0/1:-561.396,0,-671.883:689:345:324:9042:10300 . . 0/1:-474.544,0,-615.547:631:336:280:7861:9700 . . . . 0/1:-569.445,0,-543.21:645:293:320:8950:8670 . . . . 0/1:-667.28,0,-707.428:754:384:352:10382:11061 . . . 0/1:-390.813,0,-324.335:417:189:210:6074:5345 . 0/1:-473.722,0,-594.494:597:312:266:7681:9059 . . . . . . . . . . . . 0/1:-657.703,0,-755.42:790:387:377:10517:11678 1/1:-1698.29,-179.597,0:767:20:728:20553:530 . . 0/1:-298.205,0,-440.301:420:234:177:4974:6686 . 0/1:-683.893,0,-674.849:749:368:358:10614:10536 . 0/1:-522.515,0,-666.134:666:348:297:8464:10160 . . . . . . . . . 0/1:-637.285,0,-751.943:756:388:350:10049:11332 . . . . . . . . . . . . 0/1:-668.84,0,-635.913:642:310:316:9851:9539:310,316 . . . 0/1:-537.495,0,-561.283:562:282:268:8131:8449:282,268 1/1:-1524.76,-149.183,0:602:11:581:18050:348:11,581 0/1:-666.42,0,-692.587:698:343:339:10224:10414:343,339 . 1/1:-1655.93,-168.643,0:640:8:623:19372:288:8,623 . chr2 179583496 . T G 9936.12 . AB=0.461456;ABP=15.0627;AC=41;AF=0.5;AN=68;AO=431;CIGAR=1X;DP=29510;DPB=934;DPRA=0;EPP=16.1147;EPPR=4.9371;GTI=0;LEN=1;MEANALT=3;MQM=38.2413;MQMR=39.2093;NS=1;NUMALT=1;ODDS=1813.1;PAIRED=0.967517;PAIREDR=0.965795;PAO=0;PQA=0;PQR=0;PRO=0;QA=12875;QR=15224;RO=497;RPL=164;RPP=56.4608;RPPR=75.7175;RPR=267;RUN=1;SAF=193;SAP=13.2127;SAR=238;SF=0,1;SRF=224;SRP=13.5007;SRR=273;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon81:c.A20699C:p.E6900A,TTN:NM_001256850:exon82:c.A23480C:p.E7827A,TTN:NM_001267550:exon84:c.A24431C:p.E8144A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1506;esp6500siv2_ea=0.1517;esp6500siv2_all=0.1506;esp6500siv2_ea=0.1517;1000g2015aug_all=0.238818;avsnp147=rs16866465;Kaviar_AF=0.174739;Kaviar_AC=27015;Kaviar_AN=154602;ExAC_ALL=0.1766;ExAC_AFR=0.1502;ExAC_AMR=0.1737;ExAC_EAS=0.4271;ExAC_FIN=0.0941;ExAC_NFE=0.1454;ExAC_OTH=0.1559;ExAC_SAS=0.2245;CLNALLELEID=55896;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.023;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.984;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-2.37;PROVEAN_pred=N;VEST3_score=0.134;CADD_raw=0.820;CADD_phred=9.586;DANN_score=0.746;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.01;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.496;phastCons20way_mammalian=0.158;SiPhy_29way_logOdds=16.529;GDI_full_10282015=.;dpsi_max_tissue=-0.1164;dpsi_zscore=-0.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1765;gnomAD_exome_AFR=0.1532;gnomAD_exome_AMR=0.1742;gnomAD_exome_ASJ=0.1228;gnomAD_exome_EAS=0.4296;gnomAD_exome_FIN=0.0951;gnomAD_exome_NFE=0.1501;gnomAD_exome_OTH=0.1616;gnomAD_exome_SAS=0.2225;gnomAD_genome_ALL=0.1586;gnomAD_genome_AFR=0.1535;gnomAD_genome_AMR=0.1902;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.4218;gnomAD_genome_FIN=0.0821;gnomAD_genome_NFE=0.1519;gnomAD_genome_OTH=0.1417;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-803.982,0,-1004.97:934:497:431:12875:15224 0/1:-756.036,0,-828.944:803:399:395:11823:12750 . . . . . . 1/1:-1567.11,-174.093,0:687:23:659:19321:439 . . . . . . . 0/1:-832.438,0,-1388.01:1160:663:482:14008:20634 . . . 0/1:-1175.74,0,-1120.63:1192:560:617:18154:17667 . . . . . 0/1:-1051.48,0,-912.132:1018:479:526:15973:14879 . 1/1:-650.829,-58.7213,0:279:14:263:7946:301 . . 0/1:-828.392,0,-1020.31:955:493:451:13274:15590 . . . 0/1:-786.692,0,-814.307:854:422:425:12445:12904 1/1:-1129.46,-124.588,0:483:11:469:13774:233 . 1/1:-2549.61,-227.116,0:1101:51:1046:31453:1339 0/1:-899.373,0,-1063.53:989:507:475:14458:16078 . . 0/1:-853.863,0,-944.482:926:464:457:13622:14533 0/1:-513.166,0,-639.265:634:324:301:8612:9895 . 0/1:-848.09,0,-868.091:892:434:448:13267:13493 . . . 0/1:-423.773,0,-549.323:560:287:258:7260:8703 0/1:-1035.7,0,-1155.42:1157:577:571:16748:17981 . 0/1:-432.256,0,-657.228:586:319:262:7296:10027 . 0/1:-815.303,0,-953.677:905:469:430:12868:14661 0/1:-408.23,0,-664.12:570:314:245:7227:9916 0/1:-828.145,0,-1012.51:952:496:445:13293:15412 . . . . . . . 0/1:-812.436,0,-1096.44:1006:538:459:13405:16888 . 0/1:-875.362,0,-1115.15:995:528:453:13829:16763 . . . . . . . . . 0/1:-923.382,0,-1054.44:1038:534:498:14744:16334 . 1/1:-2091.68,-220.834,0:927:30:887:25757:719 1/1:-2421.76,-193.531,0:1110:62:1040:30871:1625 0/1:-765.988,0,-789.559:809:397:404:12023:12410 . . . . . . 0/1:-1102.92,0,-1290.36:1095:573:517:16479:18595:573,517 . . . . 0/1:-892.155,0,-927.34:854:422:425:13426:13710:422,425 . 1/1:-2133.13,-183.347,0:823:26:794:25487:720:26,794 . 0/1:-720.243,0,-791.425:710:365:345:10779:11706:365,345 . 0/1:-821.607,0,-920.406:823:428:394:12477:13688:428,394 . . . 0/1:-829.826,0,-960.309:843:439:403:12569:14144:439,403 . 0/1:-785.116,0,-1011.37:840:445:392:12114:14627:445,392 chr2 179583967 . G A 10548.20 . AB=0.521583;ABP=7.50947;AC=1;AF=0.5;AN=2;AO=580;CIGAR=1X;DP=1112;DPB=1112;DPRA=0;EPP=164.987;EPPR=96.6197;GTI=0;LEN=1;MEANALT=3;MQM=37.2845;MQMR=37.9049;NS=1;NUMALT=1;ODDS=2174.46;PAIRED=0.95;PAIREDR=0.920388;PAO=0;PQA=0;PQR=0;PRO=0;QA=18139;QR=16283;RO=515;RPL=126;RPP=405.796;RPPR=264.434;RPR=454;RUN=1;SAF=434;SAP=313.546;SAR=146;SF=0;SRF=371;SRP=220.28;SRR=144;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon80:c.C20418T:p.S6806S,TTN:NM_001256850:exon81:c.C23199T:p.S7733S,TTN:NM_001267550:exon83:c.C24150T:p.S8050S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs185062935;Kaviar_AF=0.0036739;Kaviar_AC=568;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0231;CLNALLELEID=55890;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1446;dpsi_zscore=-1.552;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0220;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1155.34,0,-1012.31:1112:515:580:18139:16283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179584831 . G C 11167.30 . AB=0.451816;ABP=31.8885;AC=1;AF=0.5;AN=2;AO=647;CIGAR=1X;DP=1432;DPB=1432;DPRA=0;EPP=238.701;EPPR=202.286;GTI=0;LEN=1;MEANALT=3;MQM=38.5502;MQMR=39.7701;NS=1;NUMALT=1;ODDS=2571.37;PAIRED=0.941267;PAIREDR=0.955882;PAO=0;PQA=0;PQR=0;PRO=0;QA=18574;QR=22332;RO=748;RPL=319;RPP=3.28215;RPPR=28.6615;RPR=328;RUN=1;SAF=338;SAP=5.83288;SAR=309;SF=0;SRF=388;SRP=5.28628;SRR=360;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon78:c.C19806G:p.F6602L,TTN:NM_001256850:exon79:c.C22587G:p.F7529L,TTN:NM_001267550:exon81:c.C23538G:p.F7846L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;1000g2015aug_all=0.00599042;avsnp147=rs149523263;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0232;CLNALLELEID=55886;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.315;SIFT_pred=T;Polyphen2_HDIV_score=0.885;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.484;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.77;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_pred=D;VEST3_score=0.388;CADD_raw=0.555;CADD_phred=7.837;DANN_score=0.858;fathmm-MKL_coding_score=0.315;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.546;MetaSVM_pred=T;MetaLR_score=0.246;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-2.56;phyloP7way_vertebrate=-0.449;phyloP20way_mammalian=-0.204;phastCons7way_vertebrate=0.642;phastCons20way_mammalian=0.947;SiPhy_29way_logOdds=13.015;GDI_full_10282015=.;dpsi_max_tissue=0.7908;dpsi_zscore=1.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0221;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1151.05,0,-1494.99:1432:748:647:18574:22332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179584914 . C G 9078.37 . AB=0.489858;ABP=3.89122;AC=1;AF=0.5;AN=2;AO=483;CIGAR=1X;DP=986;DPB=986;DPRA=0;EPP=58.4031;EPPR=65.2234;GTI=0;LEN=1;MEANALT=3;MQM=39.2153;MQMR=39.5206;NS=1;NUMALT=1;ODDS=2090.37;PAIRED=0.962733;PAIREDR=0.973251;PAO=0;PQA=0;PQR=0;PRO=0;QA=14695;QR=15073;RO=486;RPL=369;RPP=295.35;RPPR=174.655;RPR=114;RUN=1;SAF=190;SAP=50.7063;SAR=293;SF=0;SRF=189;SRP=55.1256;SRR=297;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon78:c.G19723C:p.E6575Q,TTN:NM_001256850:exon79:c.G22504C:p.E7502Q,TTN:NM_001267550:exon81:c.G23455C:p.E7819Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;1000g2015aug_all=.;avsnp147=rs201420077;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=6.063e-05;CLNALLELEID=228816;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.32;SIFT_pred=T;Polyphen2_HDIV_score=0.468;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.264;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.84;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_pred=T;PROVEAN_score=-1.68;PROVEAN_pred=N;VEST3_score=0.502;CADD_raw=1.662;CADD_phred=14.19;DANN_score=0.946;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.467;MetaSVM_pred=T;MetaLR_score=0.309;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.721;phastCons20way_mammalian=0.925;SiPhy_29way_logOdds=19.964;GDI_full_10282015=.;dpsi_max_tissue=-0.9244;dpsi_zscore=-1.426;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.981e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=6.499e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-956.825,0,-993.623:986:486:483:14695:15073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179585257 . G C 5571.72 . AB=0.435312;ABP=26.8899;AC=1;AF=0.5;AN=2;AO=286;CIGAR=1X;DP=657;DPB=657;DPRA=0;EPP=67.2737;EPPR=107.981;GTI=0;LEN=1;MEANALT=3;MQM=40.042;MQMR=40.7887;NS=1;NUMALT=1;ODDS=1282.94;PAIRED=0.972028;PAIREDR=0.952113;PAO=0;PQA=0;PQR=0;PRO=0;QA=8939;QR=11355;RO=355;RPL=170;RPP=25.1502;RPPR=95.5517;RPR=116;RUN=1;SAF=117;SAP=23.5406;SAR=169;SF=1;SRF=155;SRP=15.3969;SRR=200;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.C19500G:p.N6500K,TTN:NM_001256850:exon78:c.C22281G:p.N7427K,TTN:NM_001267550:exon80:c.C23232G:p.N7744K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0021;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0021;1000g2015aug_all=0.00499201;avsnp147=rs72648972;Kaviar_AF=0.0038809;Kaviar_AC=600;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0006;ExAC_AMR=0.0017;ExAC_EAS=0.0006;ExAC_FIN=0.0006;ExAC_NFE=0.0025;ExAC_OTH=0.0056;ExAC_SAS=0.0193;CLNALLELEID=55880;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.654;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.19;MutationAssessor_pred=L;FATHMM_score=-0.19;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.066;CADD_raw=1.967;CADD_phred=16.00;DANN_score=0.980;fathmm-MKL_coding_score=0.909;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.872;MetaSVM_pred=T;MetaLR_score=0.169;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.88;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.796;GDI_full_10282015=.;dpsi_max_tissue=-0.2403;dpsi_zscore=-0.759;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0041;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0096;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0190;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-577.062,0,-791.561:657:355:286:8939:11355:355,286 . . . . . . . . . . . . . . . . . . chr2 179585266 . C T 15250.07 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=608;CIGAR=1X;DP=70526;DPB=615;DPRA=0;EPP=237.072;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=38.7714;MQMR=0;NS=1;NUMALT=1;ODDS=845.863;PAIRED=0.973684;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=17808;QR=0;RO=0;RPL=359;RPP=46.2255;RPPR=0;RPR=249;RUN=1;SAF=267;SAP=22.5678;SAR=341;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.G19491A:p.Q6497Q,TTN:NM_001256850:exon78:c.G22272A:p.Q7424Q,TTN:NM_001267550:exon80:c.G23223A:p.Q7741Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9814;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9814;esp6500siv2_ea=0.9999;1000g2015aug_all=0.982029;avsnp147=rs2562831;Kaviar_AF=0.943694;Kaviar_AC=145897;Kaviar_AN=154602;ExAC_ALL=0.9950;ExAC_AFR=0.9435;ExAC_AMR=0.9973;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9989;ExAC_SAS=0.9999;CLNALLELEID=55879;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7163;dpsi_zscore=1.325;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9958;gnomAD_exome_AFR=0.9430;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9996;gnomAD_exome_OTH=0.9982;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9841;gnomAD_genome_AFR=0.9447;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1504.21,-183.026,0:615:0:608:17808:0 1/1:-2107.68,-242.934,0:830:3:821:24659:78 1/1:-1704.25,-205.302,0:686:0:682:20039:0 1/1:-1151.84,-133.958,0:451:0:445:13577:0 1/1:-1550.02,-188.746,0:631:0:627:18370:0 1/1:-1929.12,-227.643,0:764:1:756:22424:14 1/1:-1647.53,-197.419,0:669:1:659:19425:14 1/1:-1757.07,-211.925,0:709:0:704:20551:0 1/1:-1434.28,-170.027,0:579:1:568:16718:14 1/1:-1710.29,-204.199,0:695:2:687:20262:41 1/1:-1412.54,-168.276,0:567:0:559:16650:0 1/1:-1625.71,-192.659,0:650:0:640:19011:0 1/1:-1357.84,-160.75,0:538:0:534:15802:0 1/1:-1271.81,-149.243,0:518:2:506:14981:41 1/1:-1447.8,-173.393,0:582:0:576:16964:0 1/1:-2146.15,-252.865,0:847:0:840:25288:0 1/1:-1170.43,-139.696,0:465:1:464:13613:14 1/1:-2930.58,-341.917,0:1149:1:1139:34234:14 1/1:-1677.11,-199.599,0:674:2:664:19693:28 1/1:-1195.79,-142.688,0:475:0:474:14076:0 1/1:-1102.18,-131.851,0:442:0:438:12795:0 1/1:-1912.2,-229.385,0:768:0:762:22367:0 1/1:-1045.82,-123.8,0:422:1:420:12325:32 1/1:-1924.51,-224.704,0:765:1:756:22464:36 1/1:-1758.62,-210.386,0:706:1:700:20655:14 1/1:-1560.1,-186.884,0:629:1:624:18262:14 1/1:-1438.7,-165.491,0:563:2:556:16712:28 1/1:-1756.98,-208.411,0:706:1:698:20675:27 1/1:-1181.64,-143.29,0:479:0:476:14111:0 1/1:-1117.82,-132.152,0:440:0:439:13245:0 1/1:-1498.74,-177.307,0:594:0:589:17542:0 1/1:-2186.18,-258.775,0:872:2:866:25576:28 1/1:-1884.26,-220.354,0:739:0:732:21983:0 1/1:-271.472,-34.0164,0:114:0:113:3177:0 1/1:-1807.59,-212.844,0:734:2:726:21409:72 1/1:-1917.3,-224.869,0:758:0:747:22362:0 1/1:-441.859,-51.4761,0:172:0:171:5096:0 1/1:-1975.32,-230.589,0:774:0:766:23164:0 1/1:-1696.2,-202.894,0:678:0:674:19959:0 1/1:-453.805,-53.5833,0:179:0:178:5228:0 1/1:-2179.11,-253.829,0:854:1:848:25524:21 1/1:-1352.83,-163.76,0:553:0:544:16003:0 1/1:-1592.85,-186.639,0:625:0:620:18525:0 1/1:-1760.82,-206.507,0:695:0:686:20588:0 1/1:-2135.37,-254.464,0:858:1:850:24969:21 1/1:-1731.83,-205.746,0:692:1:689:20214:27 1/1:-1533.65,-186.037,0:623:0:618:17974:0 1/1:-881.792,-107.167,0:358:0:356:10251:0 1/1:-1316.15,-156.652,0:535:1:530:15489:36 1/1:-1912.34,-229.139,0:772:1:761:22467:14 1/1:-1546.43,-184.509,0:623:1:616:18327:14 1/1:-1665.25,-201.638,0:686:2:674:19513:28 1/1:-2123.88,-251.661,0:844:0:836:24630:0 1/1:-1585.62,-183.584,0:618:1:613:18517:14 1/1:-1204.59,-143.765,0:498:1:486:14217:32 1/1:-1227.14,-142.027,0:482:1:475:14345:14 1/1:-1653.43,-190.981,0:646:2:639:19292:50 1/1:-990.179,-116.8,0:389:0:388:11580:0 1/1:-1215.24,-143.367,0:488:1:481:14259:21 1/1:-1366.76,-161.038,0:547:1:538:15939:14 1/1:-987.704,-119.781,0:405:1:399:11567:14 1/1:-1834.23,-218.247,0:732:0:725:21442:0 1/1:-1325.88,-155.331,0:522:0:516:15521:0 1/1:-1292.68,-149.633,0:521:3:513:15135:64 1/1:-2124.06,-249.855,0:839:0:830:25025:0 1/1:-1585.26,-188.445,0:634:0:626:18577:0 1/1:-1176.49,-140.871,0:477:1:471:13935:14 1/1:-1707.86,-207.468,0:697:1:689:20121:14 1/1:-1290.64,-155.633,0:522:0:517:15116:0 1/1:-1733.91,-210.816,0:714:1:706:20426:27 1/1:-1404.06,-165.567,0:556:0:550:16325:0 1/1:-1969.34,-226.375,0:756:0:752:23015:0 1/1:-2162.28,-254.671,0:852:0:846:25399:0 1/1:-933.834,-121.014,0:405:0:402:11059:0 1/1:-1609.71,-185.23,0:631:1:621:18774:27 1/1:-1937.44,-226.941,0:779:2:764:22619:41 1/1:-1741.33,-201.596,0:683:2:674:20442:28 1/1:-1925.68,-222.707,0:753:1:743:22367:14 1/1:-1101.75,-130.948,0:437:0:435:12942:0 1/1:-1077.71,-125.53,0:422:0:417:12513:0 1/1:-1811.4,-213.731,0:716:0:710:21352:0 1/1:-1824.73,-216.742,0:726:0:720:21605:0 1/1:-1733.52,-205.547,0:699:1:686:20312:14 1/1:-1466.69,-177.495,0:601:1:591:17472:32 1/1:-1306.23,-164.964,0:553:0:548:15637:0 1/1:-1466.09,-173.092,0:580:0:575:17188:0 1/1:-1359.36,-162.255,0:546:0:539:15848:0 1/1:-1887.46,-223.31,0:755:1:745:22078:14 1/1:-977.961,-116.499,0:392:0:387:11504:0 1/1:-1598.94,-186.338,0:627:0:619:18732:0 1/1:-2406.8,-280.503,0:948:1:935:28038:14 1/1:-1354.49,-159.546,0:536:0:530:15751:0 1/1:-1866.84,-217.645,0:731:0:723:21674:0 1/1:-1691.27,-197.453,0:664:1:659:19731:14 1/1:-1870.14,-224.267,0:756:0:745:21856:0 . 1/1:-1407.73,-153.525,0:512:0:510:16304:0:0,510 1/1:-1669.63,-183.012,0:612:1:609:19407:14:1,609 1/1:-1832.81,-192,0:662:2:657:21335:72:2,657 1/1:-746.541,-81.8802,0:274:0:272:8635:0:0,272 1/1:-1495.43,-165.567,0:554:0:550:17369:0:0,550 1/1:-1964.72,-219.15,0:730:0:728:22822:0:0,728 1/1:-1569.56,-173.694,0:579:0:577:18203:0:0,577 1/1:-1601.33,-179.113,0:596:0:595:18717:0:0,595 1/1:-1507.03,-166.47,0:557:0:553:17376:0:0,553 1/1:-1278.8,-142.688,0:476:0:474:14919:0:0,474 1/1:-1654.62,-181.822,0:608:0:604:19150:0:0,604 1/1:-1428.63,-157.138,0:523:0:522:16645:0:0,522 1/1:-1325.6,-140.933,0:485:2:481:15364:50:2,481 1/1:-1646.64,-179.113,0:597:0:595:18889:0:0,595 1/1:-1760.36,-195.067,0:654:0:648:20392:0:0,648 1/1:-1479.32,-161.954,0:543:0:538:17033:0:0,538 1/1:-1987.34,-215.839,0:720:0:717:22934:0:0,717 1/1:-1518.16,-167.046,0:560:1:558:17454:14:1,558 1/1:-1587.46,-173.694,0:580:0:577:18278:0:0,577 1/1:-1421.25,-154.648,0:523:2:518:16496:28:2,518 chr2 179585312 . G A 3338.82 . AB=0.487864;ABP=3.53736;AC=2;AF=0.5;AN=4;AO=201;CIGAR=1X;DP=760;DPB=412;DPRA=0;EPP=16.2444;EPPR=12.1872;GTI=0;LEN=1;MEANALT=2;MQM=38.7562;MQMR=39.2965;NS=1;NUMALT=1;ODDS=803.164;PAIRED=0.9801;PAIREDR=0.984925;PAO=0;PQA=0;PQR=0;PRO=0;QA=5993;QR=5829;RO=199;RPL=150;RPP=108.894;RPPR=101.49;RPR=51;RUN=1;SAF=48;SAP=122.117;SAR=153;SF=0;SRF=59;SRP=74.6034;SRR=140;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.C19445T:p.S6482L,TTN:NM_001256850:exon78:c.C22226T:p.S7409L,TTN:NM_001267550:exon80:c.C23177T:p.S7726L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0092;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0092;1000g2015aug_all=0.00199681;avsnp147=rs17452588;Kaviar_AF=0.0061642;Kaviar_AC=953;Kaviar_AN=154602;ExAC_ALL=0.0067;ExAC_AFR=0.0008;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0.0313;ExAC_NFE=0.0080;ExAC_OTH=0.0046;ExAC_SAS=0.0014;CLNALLELEID=55878;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.031;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.93;MutationAssessor_pred=L;FATHMM_score=-0.35;FATHMM_pred=T;PROVEAN_score=-3.84;PROVEAN_pred=D;VEST3_score=0.451;CADD_raw=3.099;CADD_phred=22.5;DANN_score=0.955;fathmm-MKL_coding_score=0.892;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.865;MetaSVM_pred=T;MetaLR_score=0.148;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.425;GDI_full_10282015=.;dpsi_max_tissue=-1.0325;dpsi_zscore=-1.489;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM168501#"Muscular_dystrophy";gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0123;gnomAD_exome_EAS=5.839e-05;gnomAD_exome_FIN=0.0299;gnomAD_exome_NFE=0.0072;gnomAD_exome_OTH=0.0061;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0083;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0281;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-391.944,0,-374.409:412:199:201:5993:5829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-324.517,0,-285.344:348:160:182:5196:4558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179585393 . A G 2188.44 . AB=0.453488;ABP=7.85824;AC=50;AF=0.5;AN=84;AO=117;CIGAR=1X;DP=8956;DPB=258;DPRA=0;EPP=14.61;EPPR=5.27618;GTI=0;LEN=1;MEANALT=2;MQM=37.7009;MQMR=38.8116;NS=1;NUMALT=1;ODDS=445.869;PAIRED=1;PAIREDR=0.992754;PAO=0;PQA=0;PQR=0;PRO=0;QA=3458;QR=4450;RO=138;RPL=56;RPP=3.47429;RPPR=3.0103;RPR=61;RUN=1;SAF=26;SAP=81.4246;SAR=91;SF=0,1;SRF=22;SRP=142.047;SRR=116;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2816;esp6500siv2_ea=0.1985;esp6500siv2_all=0.2816;esp6500siv2_ea=0.1985;1000g2015aug_all=0.460064;avsnp147=rs2562830;Kaviar_AF=0.298812;Kaviar_AC=46197;Kaviar_AN=154602;ExAC_ALL=0.3232;ExAC_AFR=0.4836;ExAC_AMR=0.4315;ExAC_EAS=0.6741;ExAC_FIN=0.2095;ExAC_NFE=0.2124;ExAC_OTH=0.2919;ExAC_SAS=0.4757;CLNALLELEID=55875;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.9254;dpsi_zscore=1.945;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3079;gnomAD_exome_AFR=0.4765;gnomAD_exome_AMR=0.4096;gnomAD_exome_ASJ=0.1863;gnomAD_exome_EAS=0.6642;gnomAD_exome_FIN=0.2053;gnomAD_exome_NFE=0.2036;gnomAD_exome_OTH=0.2672;gnomAD_exome_SAS=0.4393;gnomAD_genome_ALL=0.3042;gnomAD_genome_AFR=0.4622;gnomAD_genome_AMR=0.4057;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.6506;gnomAD_genome_FIN=0.1929;gnomAD_genome_NFE=0.2028;gnomAD_genome_OTH=0.2413;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-210.144,0,-295.143:258:138:117:3458:4450 . . . . . . . . . 0/1:-190.522,0,-232.508:219:112:103:2991:3579 0/1:-163.056,0,-225.468:204:107:94:2644:3456 . . . 0/1:-165.045,0,-143.796:166:73:90:2640:2268 . 0/1:-176.653,0,-299.746:253:142:106:2994:4445 1/1:-393.037,-45.9077,0:164:1:158:4666:27 . 0/1:-274.165,0,-312.566:301:152:143:4324:4814 . . . . . 0/1:-315.476,0,-311.994:339:155:176:4905:4920 . . . 0/1:-286.381,0,-330.511:323:159:154:4467:5124 . . . . . 0/1:-241.038,0,-273.415:278:143:129:3846:4393 . 1/1:-218.755,-22.9986,0:93:2:88:2599:46 . 1/1:-420.98,-49.7767,0:190:2:182:5195:63 0/1:-151.072,0,-249.02:200:115:80:2452:3596 . . . 0/1:-227.576,0,-257.988:269:129:134:3666:4180 1/1:-343.2,-36.954,0:158:3:145:4198:86 0/1:-148.388,0,-254.607:213:119:89:2546:3695 1/1:-557.315,-55.778,0:256:9:243:6971:268 0/1:-188.668,0,-222.253:220:111:103:2980:3355 . . 0/1:-240.357,0,-221.266:239:109:127:3646:3515 0/1:-153.157,0,-181.864:184:93:87:2444:2872 . 0/1:-220.503,0,-244.204:255:127:125:3470:3939 . . . 0/1:-98.4987,0,-157.851:133:76:55:1639:2421 0/1:-203.896,0,-324.485:276:151:121:3417:4783 . 0/1:-132.676,0,-183.609:179:95:78:2178:3027 . 0/1:-256.041,0,-225.389:242:109:130:3907:3501 0/1:-101.289,0,-130.698:130:67:61:1794:2091 0/1:-212.149,0,-267.502:256:131:123:3398:4232 . . . . . . . 0/1:-198.742,0,-248.032:232:121:106:3171:3816 . 0/1:-213.558,0,-251.671:249:124:122:3511:3888 . . . . . . . . . 0/1:-201.077,0,-351.208:277:161:112:3274:5290 . 1/1:-486.85,-51.5084,0:229:5:214:6023:176 1/1:-632.305,-59.1239,0:297:11:276:7984:321 0/1:-177.52,0,-218.977:194:100:91:2778:3242 . . . . 0/1:-143.51,0,-153.094:147:72:71:2180:2313:72,71 0/1:-181.887,0,-177.57:172:82:88:2712:2660:82,88 0/1:-191.901,0,-253.827:214:116:95:2961:3814:116,95 . . . . 0/1:-155.189,0,-215.793:183:100:78:2463:3138:100,78 . 1/1:-316.818,-34.7351,0:130:1:125:3761:36:1,125 . 0/1:-148.417,0,-179.962:157:82:70:2227:2599:82,70 . 0/1:-171.18,0,-239.235:197:109:87:2683:3489:109,87 . . . 0/1:-169.565,0,-158.295:157:73:81:2472:2392:73,81 . 0/1:-99.1538,0,-152.811:123:65:54:1613:2161:65,54 chr2 179586604 . C G 7041.03 . AB=0.477435;ABP=6.7343;AC=15;AF=0.5;AN=26;AO=402;CIGAR=1X;DP=8708;DPB=842;DPRA=0;EPP=97.129;EPPR=199.45;GTI=0;LEN=1;MEANALT=3;MQM=40.005;MQMR=39.6853;NS=1;NUMALT=1;ODDS=1677.08;PAIRED=0.965174;PAIREDR=0.962704;PAO=0;PQA=0;PQR=0;PRO=0;QA=12757;QR=14084;RO=429;RPL=31;RPP=627.444;RPPR=714.813;RPR=371;RUN=1;SAF=288;SAP=166.551;SAR=114;SF=0,1;SRF=332;SRP=282.543;SRR=97;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon75:c.G19054C:p.D6352H,TTN:NM_001256850:exon76:c.G21835C:p.D7279H,TTN:NM_001267550:exon78:c.G22786C:p.D7596H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0280;esp6500siv2_ea=0.0386;esp6500siv2_all=0.0280;esp6500siv2_ea=0.0386;1000g2015aug_all=0.0201677;avsnp147=rs72648970;Kaviar_AF=0.0278651;Kaviar_AC=4308;Kaviar_AN=154602;ExAC_ALL=0.0298;ExAC_AFR=0.0052;ExAC_AMR=0.0098;ExAC_EAS=0.0002;ExAC_FIN=0.0268;ExAC_NFE=0.0360;ExAC_OTH=0.0273;ExAC_SAS=0.0531;CLNALLELEID=55870;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.09;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.935;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.285;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-3.75;PROVEAN_pred=D;VEST3_score=0.25;CADD_raw=2.558;CADD_phred=19.84;DANN_score=0.908;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.373;MetaSVM_pred=T;MetaLR_score=0.204;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.860;GDI_full_10282015=.;dpsi_max_tissue=-1.0471;dpsi_zscore=-1.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0284;gnomAD_exome_AFR=0.0048;gnomAD_exome_AMR=0.0116;gnomAD_exome_ASJ=0.0229;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0275;gnomAD_exome_NFE=0.0368;gnomAD_exome_OTH=0.0290;gnomAD_exome_SAS=0.0462;gnomAD_genome_ALL=0.0256;gnomAD_genome_AFR=0.0052;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0275;gnomAD_genome_NFE=0.0401;gnomAD_genome_OTH=0.0398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-836.035,0,-940.841:842:429:402:12757:14084 . . . 0/1:-787.079,0,-994.509:835:449:373:12151:14799 . . . . . . . . . . 0/1:-491.236,0,-541.777:483:252:228:7461:8209 . . 0/1:-742.386,0,-1073.42:850:472:364:11770:15639 . . . . . . 0/1:-529.705,0,-825.444:637:359:270:8564:12064 . . . . . . . . . . . 0/1:-650.937,0,-781.115:661:350:308:9954:11513 0/1:-716.46,0,-687.755:655:314:336:10805:10465 . . . . . . . . . . . . . . . . 0/1:-462.513,0,-607.73:514:274:232:7399:8986 . . . . . . . . . . . . . . 0/1:-752.986,0,-885.354:760:404:350:11452:13157 1/1:-1886.52,-149.469,0:765:28:729:23382:913 . . . . . . . . . . . . . . . . 0/1:-726.428,0,-714.23:674:327:344:11067:10758 . . . . . . . . . . . . . . . . 0/1:-585.967,0,-566.854:518:248:264:8563:8351:248,264 1/1:-1391.65,-126.882,0:514:10:502:16426:338:10,502 . . . . chr2 179587014 . T A 8032.48 . AB=0.506158;ABP=3.27772;AC=1;AF=0.5;AN=2;AO=411;CIGAR=1X;DP=812;DPB=812;DPRA=0;EPP=120.307;EPPR=85.4598;GTI=0;LEN=1;MEANALT=3;MQM=39.4428;MQMR=39.1862;NS=1;NUMALT=1;ODDS=1821.92;PAIRED=0.975669;PAIREDR=0.992347;PAO=0;PQA=0;PQR=0;PRO=0;QA=12516;QR=12490;RO=392;RPL=154;RPP=59.0618;RPPR=38.4629;RPR=257;RUN=1;SAF=206;SAP=3.01558;SAR=205;SF=0;SRF=185;SRP=5.6914;SRR=207;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon74:c.A18768T:p.A6256A,TTN:NM_001256850:exon75:c.A21549T:p.A7183A,TTN:NM_001267550:exon77:c.A22500T:p.A7500A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs757003919;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=6.266e-05;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.561e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8261;dpsi_zscore=-1.842;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.797e-05;gnomAD_exome_AFR=6.611e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-828.735,0,-811.273:812:392:411:12516:12490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179587130 . C G 14161.74 . AB=0.455144;ABP=24.2443;AC=41;AF=0.5;AN=68;AO=553;CIGAR=1X;DP=42735;DPB=1215;DPRA=0;EPP=87.8626;EPPR=24.3187;GTI=0;LEN=1;MEANALT=3;MQM=39.7197;MQMR=40.4081;NS=1;NUMALT=1;ODDS=2132.93;PAIRED=0.965642;PAIREDR=0.959677;PAO=0;PQA=0;PQR=0;PRO=0;QA=15328;QR=18744;RO=620;RPL=410;RPP=282.942;RPPR=330.959;RPR=143;RUN=1;SAF=285;SAP=4.14512;SAR=268;SF=0,1;SRF=288;SRP=9.7909;SRR=332;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon74:c.G18652C:p.D6218H,TTN:NM_001256850:exon75:c.G21433C:p.D7145H,TTN:NM_001267550:exon77:c.G22384C:p.D7462H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1572;esp6500siv2_ea=0.1523;esp6500siv2_all=0.1572;esp6500siv2_ea=0.1523;1000g2015aug_all=0.247005;avsnp147=rs12693166;Kaviar_AF=0.176026;Kaviar_AC=27214;Kaviar_AN=154602;ExAC_ALL=0.1786;ExAC_AFR=0.1701;ExAC_AMR=0.1750;ExAC_EAS=0.4270;ExAC_FIN=0.0940;ExAC_NFE=0.1457;ExAC_OTH=0.1559;ExAC_SAS=0.2249;CLNALLELEID=55863;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.119;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.002;MutationTaster_pred=P;MutationAssessor_score=2.33;MutationAssessor_pred=M;FATHMM_score=-0.79;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_pred=D;VEST3_score=0.263;CADD_raw=2.840;CADD_phred=21.6;DANN_score=0.908;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.081;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=20.860;GDI_full_10282015=.;dpsi_max_tissue=-1.0326;dpsi_zscore=-1.489;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1777;gnomAD_exome_AFR=0.1722;gnomAD_exome_AMR=0.1748;gnomAD_exome_ASJ=0.1230;gnomAD_exome_EAS=0.4295;gnomAD_exome_FIN=0.0950;gnomAD_exome_NFE=0.1500;gnomAD_exome_OTH=0.1615;gnomAD_exome_SAS=0.2224;gnomAD_genome_ALL=0.1637;gnomAD_genome_AFR=0.1711;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.4246;gnomAD_genome_FIN=0.0820;gnomAD_genome_NFE=0.1519;gnomAD_genome_OTH=0.1418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-973.016,0,-1269.15:1215:620:553:15328:18744 0/1:-1070.29,0,-1194.7:1201:589:576:16457:17701 . . . . . . 1/1:-2082.18,-240.278,0:904:13:862:24656:278 . . . . . . . 0/1:-1294.91,0,-1441.17:1454:728:687:20146:21745 . . . 0/1:-1567.52,0,-1693.07:1718:854:823:24061:25655 . . . . . 0/1:-1513.53,0,-1419.56:1554:729:776:22833:21855 . 1/1:-813.472,-83.8235,0:363:9:340:9590:240 . . 0/1:-1356.5,0,-1340.29:1399:667:692:20606:20244 . . . 0/1:-1082.58,0,-1264.34:1263:632:590:16875:19029 1/1:-1787.61,-192.924,0:768:17:724:20914:366 . 1/1:-3379.67,-357.711,0:1491:37:1416:40267:911 0/1:-1227.02,0,-1300.45:1382:673:674:19042:19665 . . 0/1:-1199.16,0,-1303.25:1342:659:623:18147:19524 0/1:-957.333,0,-1047.86:1096:546:515:14948:16013 . 0/1:-1387.24,0,-1250.93:1388:633:710:20852:19067 . . . 0/1:-834.479,0,-838.928:900:423:448:12795:12898 0/1:-1563.43,0,-1634.44:1713:831:830:24047:24816 . 0/1:-775.896,0,-1037.79:976:506:431:12316:15399 . 0/1:-1195.79,0,-1336.21:1332:653:640:18419:20052 0/1:-708.789,0,-859.241:880:445:405:11374:13100 0/1:-1179.31,0,-1422.02:1395:706:640:18416:21209 . . . . . . . 0/1:-1356.11,0,-1507.88:1564:763:741:21128:22590 . 0/1:-1344.3,0,-1538.34:1534:765:718:20819:22973 . . . . . . . . . 0/1:-1338.57,0,-1469.27:1499:748:710:20594:22288 . 1/1:-3311.78,-352.106,0:1428:33:1350:39025:761 1/1:-3882.09,-378.237,0:1718:50:1603:46691:1386 0/1:-1063.53,0,-987.204:1119:510:564:16064:15274 . . . . . . 0/1:-1357.34,0,-1310.01:1314:625:656:20094:19455:625,656 . . . . 0/1:-1221.84,0,-1516.6:1355:700:631:18843:21930:700,631 . 1/1:-2774.82,-253.674,0:1125:32:1070:32970:916:32,1070 . 0/1:-1034.59,0,-1007.92:1016:480:503:15355:14944:480,503 . 0/1:-980.348,0,-1227.89:1077:577:478:14922:17723:577,478 . . . 0/1:-1019.15,0,-1080.57:1022:499:499:15228:15773:499,499 . 0/1:-1348.33,0,-1191.24:1230:574:640:19699:17926:574,640 chr2 179587546 . A G 8068.25 . AB=0.462279;ABP=10.7098;AC=7;AF=0.5;AN=12;AO=288;CIGAR=1X;DP=4342;DPB=623;DPRA=0;EPP=28.3743;EPPR=5.23675;GTI=0;LEN=1;MEANALT=3;MQM=37.2431;MQMR=39.1456;NS=1;NUMALT=1;ODDS=1118.66;PAIRED=0.989583;PAIREDR=0.943038;PAO=0;PQA=0;PQR=0;PRO=0;QA=8236;QR=9738;RO=316;RPL=149;RPP=3.76428;RPPR=3.12025;RPR=139;RUN=1;SAF=188;SAP=61.3988;SAR=100;SF=0,1;SRF=179;SRP=15.1321;SRR=137;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon73:c.T18348C:p.D6116D,TTN:NM_001256850:exon74:c.T21129C:p.D7043D,TTN:NM_001267550:exon76:c.T22080C:p.D7360D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0434;esp6500siv2_ea=0.0242;esp6500siv2_all=0.0434;esp6500siv2_ea=0.0242;1000g2015aug_all=0.0940495;avsnp147=rs16866473;Kaviar_AF=0.0664222;Kaviar_AC=10269;Kaviar_AN=154602;ExAC_ALL=0.0706;ExAC_AFR=0.0921;ExAC_AMR=0.1918;ExAC_EAS=0.0279;ExAC_FIN=0.0588;ExAC_NFE=0.0270;ExAC_OTH=0.0814;ExAC_SAS=0.1758;CLNALLELEID=55860;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0689;dpsi_zscore=-0.344;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0751;gnomAD_exome_AFR=0.0895;gnomAD_exome_AMR=0.1896;gnomAD_exome_ASJ=0.0285;gnomAD_exome_EAS=0.0281;gnomAD_exome_FIN=0.0576;gnomAD_exome_NFE=0.0264;gnomAD_exome_OTH=0.0618;gnomAD_exome_SAS=0.1758;gnomAD_genome_ALL=0.0512;gnomAD_genome_AFR=0.0877;gnomAD_genome_AMR=0.1651;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0333;gnomAD_genome_FIN=0.0533;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0550;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-502.113,0,-643.03:623:316:288:8236:9738 . 0/1:-793.886,0,-836.925:838:408:418:12285:12669 . . . . . . . . . . . . . . . . . . . . . . 1/1:-1438.13,-147.053,0:609:12:585:17196:397 . . . . . . 0/1:-626.717,0,-866.936:738:397:331:10008:12630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-630.693,0,-860.099:715:397:308:9730:12321:397,308 0/1:-833.868,0,-927.093:819:418:393:12418:13543:418,393 . . . . . . . . . . . . . . . . . . chr2 179588045 . G A 5080.16 . AB=0.464098;ABP=9.40302;AC=1;AF=0.5;AN=2;AO=265;CIGAR=1X;DP=571;DPB=571;DPRA=0;EPP=18.1614;EPPR=47.0478;GTI=0;LEN=1;MEANALT=3;MQM=39.834;MQMR=40.5133;NS=1;NUMALT=1;ODDS=1169.75;PAIRED=0.962264;PAIREDR=0.963333;PAO=0;PQA=0;PQR=0;PRO=0;QA=8056;QR=9706;RO=300;RPL=161;RPP=29.6334;RPPR=38.4777;RPR=104;RUN=1;SAF=107;SAP=24.3235;SAR=158;SF=1;SRF=128;SRP=17.0235;SRR=172;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon72:c.C17957T:p.A5986V,TTN:NM_001256850:exon73:c.C20738T:p.A6913V,TTN:NM_001267550:exon75:c.C21689T:p.A7230V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs761223583;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.202e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.54e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=268216;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.577;SIFT_pred=T;Polyphen2_HDIV_score=0.733;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.287;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.035;MutationAssessor_pred=M;FATHMM_score=-0.03;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_pred=N;VEST3_score=0.287;CADD_raw=2.479;CADD_phred=19.33;DANN_score=0.968;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.235;MetaSVM_pred=T;MetaLR_score=0.347;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.806;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=20.640;GDI_full_10282015=.;dpsi_max_tissue=-0.3564;dpsi_zscore=-0.931;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.77e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.655e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-522.217,0,-666.796:571:300:265:8056:9706:300,265 . . . chr2 179588578 . C T 5879.94 . AB=0.471139;ABP=7.64797;AC=1;AF=0.5;AN=2;AO=302;CIGAR=1X;DP=641;DPB=641;DPRA=0;EPP=20.9861;EPPR=69.9323;GTI=0;LEN=1;MEANALT=3;MQM=39.6225;MQMR=39.6918;NS=1;NUMALT=1;ODDS=1353.91;PAIRED=0.990066;PAIREDR=0.984894;PAO=0;PQA=0;PQR=0;PRO=0;QA=9309;QR=10650;RO=331;RPL=136;RPP=9.48158;RPPR=18.7617;RPR=166;RUN=1;SAF=126;SAP=20.9861;SAR=176;SF=0;SRF=149;SRP=10.1545;SRR=182;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-7.9451;dpsi_zscore=-2.781;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-600.042,0,-716.604:641:331:302:9309:10650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179588813 . C T 5761.11 . AB=0.495;ABP=3.14059;AC=1;AF=0.5;AN=2;AO=297;CIGAR=1X;DP=600;DPB=600;DPRA=0;EPP=68.9953;EPPR=151.52;GTI=0;LEN=1;MEANALT=2;MQM=39.3468;MQMR=40.7391;NS=1;NUMALT=1;ODDS=1326.54;PAIRED=0.949495;PAIREDR=0.973244;PAO=0;PQA=0;PQR=0;PRO=0;QA=9366;QR=9743;RO=299;RPL=203;RPP=89.8765;RPPR=120.146;RPR=94;RUN=1;SAF=79;SAP=144.273;SAR=218;SF=1;SRF=76;SRP=159.945;SRR=223;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon70:c.G17441A:p.G5814D,TTN:NM_001256850:exon71:c.G20222A:p.G6741D,TTN:NM_001267550:exon73:c.G21173A:p.G7058D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0011;1000g2015aug_all=0.00379393;avsnp147=rs72648964;Kaviar_AF=0.0015782;Kaviar_AC=244;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0100;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0023;ExAC_SAS=0.0004;CLNALLELEID=55847;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.333;SIFT_pred=T;Polyphen2_HDIV_score=0.468;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.447;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.345;MutationAssessor_pred=M;FATHMM_score=-1.39;FATHMM_pred=T;PROVEAN_score=-4.53;PROVEAN_pred=D;VEST3_score=0.423;CADD_raw=2.969;CADD_phred=22.1;DANN_score=0.893;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_pred=D;MetaSVM_score=0.188;MetaSVM_pred=D;MetaLR_score=0.492;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.92;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.104;phastCons20way_mammalian=0.952;SiPhy_29way_logOdds=16.557;GDI_full_10282015=.;dpsi_max_tissue=0.1410;dpsi_zscore=0.595;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516147#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0098;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0178;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0030;gnomAD_genome_AFR=0.0093;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-613.796,0,-663.869:600:299:297:9366:9743:299,297 . . . chr2 179589058 . G A 14831.70 . AB=0.481633;ABP=7.31779;AC=1;AF=0.5;AN=2;AO=708;CIGAR=1X;DP=1470;DPB=1470;DPRA=0;EPP=23.6332;EPPR=64.0893;GTI=0;LEN=1;MEANALT=3;MQM=40.654;MQMR=41.0605;NS=1;NUMALT=1;ODDS=3415.13;PAIRED=0.967514;PAIREDR=0.957359;PAO=0;PQA=0;PQR=0;PRO=0;QA=22579;QR=22935;RO=727;RPL=199;RPP=297.754;RPPR=454.99;RPR=509;RUN=1;SAF=366;SAP=4.77692;SAR=342;SF=1;SRF=387;SRP=9.60835;SRR=340;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0031;1000g2015aug_all=0.0357428;avsnp147=rs72648960;Kaviar_AF=0.0150904;Kaviar_AC=2333;Kaviar_AN=154602;ExAC_ALL=0.0165;ExAC_AFR=0.0012;ExAC_AMR=0.0025;ExAC_EAS=0.1206;ExAC_FIN=0.0234;ExAC_NFE=0.0040;ExAC_OTH=0.0201;ExAC_SAS=0.0283;CLNALLELEID=55845;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.074;SIFT_pred=T;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.96;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_pred=T;PROVEAN_score=-2.43;PROVEAN_pred=N;VEST3_score=0.391;CADD_raw=2.818;CADD_phred=21.5;DANN_score=0.970;fathmm-MKL_coding_score=0.919;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.127;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.02;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.243;GDI_full_10282015=.;dpsi_max_tissue=0.0672;dpsi_zscore=0.370;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0165;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0103;gnomAD_exome_EAS=0.1235;gnomAD_exome_FIN=0.0231;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0149;gnomAD_exome_SAS=0.0269;gnomAD_genome_ALL=0.0122;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.1215;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.0041;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1524.16,0,-1573.53:1470:727:708:22579:22935:727,708 . . . . . . . . . . . . . . . . . . chr2 179589241 . G A 6016.74 . AB=0.416667;ABP=29.068;AC=6;AF=0.5;AN=10;AO=180;CIGAR=1X;DP=2637;DPB=432;DPRA=0;EPP=26.3657;EPPR=34.9044;GTI=0;LEN=1;MEANALT=3;MQM=37.8167;MQMR=37.7511;NS=1;NUMALT=1;ODDS=671.843;PAIRED=0.988889;PAIREDR=0.966245;PAO=0;PQA=0;PQR=0;PRO=0;QA=5251;QR=7316;RO=237;RPL=118;RPP=40.8422;RPPR=85.7003;RPR=62;RUN=1;SAF=50;SAP=80.2182;SAR=130;SF=0,1;SRF=77;SRP=66.1296;SRR=160;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.C17129T:p.A5710V,TTN:NM_001256850:exon70:c.C19910T:p.A6637V,TTN:NM_001267550:exon72:c.C20861T:p.A6954V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0152;esp6500siv2_ea=0.0190;esp6500siv2_all=0.0152;esp6500siv2_ea=0.0190;1000g2015aug_all=0.0515176;avsnp147=rs17355446;Kaviar_AF=0.0467652;Kaviar_AC=7230;Kaviar_AN=154602;ExAC_ALL=0.0511;ExAC_AFR=0.0069;ExAC_AMR=0.1873;ExAC_EAS=0.0008;ExAC_FIN=0.0562;ExAC_NFE=0.0198;ExAC_OTH=0.0693;ExAC_SAS=0.1390;CLNALLELEID=55842;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.548;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.228;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.115;MutationAssessor_pred=L;FATHMM_score=1.04;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.182;CADD_raw=3.167;CADD_phred=22.7;DANN_score=0.988;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.154;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.01;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=20.521;GDI_full_10282015=.;dpsi_max_tissue=-0.0808;dpsi_zscore=-0.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0572;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.1849;gnomAD_exome_ASJ=0.0188;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0557;gnomAD_exome_NFE=0.0195;gnomAD_exome_OTH=0.0494;gnomAD_exome_SAS=0.1280;gnomAD_genome_ALL=0.0233;gnomAD_genome_AFR=0.0070;gnomAD_genome_AMR=0.1591;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0521;gnomAD_genome_NFE=0.0199;gnomAD_genome_OTH=0.0398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-314.679,0,-476.013:432:237:180:5251:7316 . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1189.41,-125.423,0:548:14:511:14387:394 . . . . . . 0/1:-381.328,0,-430.398:444:222:206:6097:6766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-672.79,0,-676.005:643:317:318:9913:10065:317,318 0/1:-617.953,0,-591.494:570:275:285:8959:8810:275,285 . . . . . . . . . . . . . . . . . . chr2 179590329 . C T 8841.80 . AB=0.521186;ABP=6.69076;AC=2;AF=0.5;AN=4;AO=492;CIGAR=1X;DP=1310;DPB=944;DPRA=0;EPP=104.981;EPPR=68.1299;GTI=0;LEN=1;MEANALT=3;MQM=39.6443;MQMR=39.3946;NS=1;NUMALT=1;ODDS=1988.88;PAIRED=0.98374;PAIREDR=0.988662;PAO=0;PQA=0;PQR=0;PRO=0;QA=15278;QR=13851;RO=441;RPL=336;RPP=146.01;RPPR=87.5106;RPR=156;RUN=1;SAF=186;SAP=66.5656;SAR=306;SF=0,1;SRF=168;SRP=57.2971;SRR=273;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon68:c.G16870A:p.G5624R,TTN:NM_001256850:exon69:c.G19651A:p.G6551R,TTN:NM_001267550:exon71:c.G20602A:p.G6868R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0130;esp6500siv2_ea=0.0173;esp6500siv2_all=0.0130;esp6500siv2_ea=0.0173;1000g2015aug_all=0.00658946;avsnp147=rs17355460;Kaviar_AF=0.0119856;Kaviar_AC=1853;Kaviar_AN=154602;ExAC_ALL=0.0116;ExAC_AFR=0.0031;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0.0079;ExAC_NFE=0.0163;ExAC_OTH=0.0150;ExAC_SAS=0.0097;CLNALLELEID=55837;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.085;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.875;MutationAssessor_pred=H;FATHMM_score=-1.48;FATHMM_pred=T;PROVEAN_score=-4.62;PROVEAN_pred=D;VEST3_score=0.311;CADD_raw=3.112;CADD_phred=22.5;DANN_score=0.848;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=0.562;MetaSVM_pred=D;MetaLR_score=0.674;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.86;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.881;phastCons20way_mammalian=0.348;SiPhy_29way_logOdds=20.563;GDI_full_10282015=.;dpsi_max_tissue=-0.7550;dpsi_zscore=-1.312;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516144#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0090;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0127;gnomAD_exome_NFE=0.0179;gnomAD_exome_OTH=0.0156;gnomAD_exome_SAS=0.0074;gnomAD_genome_ALL=0.0108;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0154;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1026.51,0,-892.808:944:441:492:15278:13851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-403.918,0,-347.168:366:171:189:5923:5231:171,189 . . . . . . . . . . . . . . . . chr2 179590708 . C T 1151.36 . AB=0.423729;ABP=11.9538;AC=1;AF=0.5;AN=2;AO=75;CIGAR=1X;DP=177;DPB=177;DPRA=0;EPP=30.8341;EPPR=53.041;GTI=0;LEN=1;MEANALT=2;MQM=39.3467;MQMR=39.94;NS=1;NUMALT=1;ODDS=265.11;PAIRED=0.986667;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2297;QR=3146;RO=100;RPL=64;RPP=84.3392;RPPR=163.612;RPR=11;RUN=1;SAF=11;SAP=84.3392;SAR=64;SF=0;SRF=19;SRP=86.4817;SRR=81;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon67:c.G16609A:p.E5537K,TTN:NM_001256850:exon68:c.G19390A:p.E6464K,TTN:NM_001267550:exon70:c.G20341A:p.E6781K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000199681;avsnp147=rs72648958;Kaviar_AF=0.0011061;Kaviar_AC=171;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0005;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0015;ExAC_OTH=0.0011;ExAC_SAS=0.0010;CLNALLELEID=55836;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.694;SIFT_pred=T;Polyphen2_HDIV_score=0.953;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.429;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.865;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.514;CADD_raw=3.367;CADD_phred=22.9;DANN_score=0.987;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.403;MetaSVM_pred=T;MetaLR_score=0.309;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.583;GDI_full_10282015=.;dpsi_max_tissue=-0.6743;dpsi_zscore=-1.248;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-142.769,0,-216.52:177:100:75:2297:3146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179590740 . A G 923.77 . AB=0.53211;ABP=3.98647;AC=1;AF=0.5;AN=2;AO=58;CIGAR=1X;DP=109;DPB=109;DPRA=0;EPP=5.40641;EPPR=11.8771;GTI=0;LEN=1;MEANALT=3;MQM=39.3103;MQMR=37.7917;NS=1;NUMALT=1;ODDS=167.875;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1717;QR=1555;RO=48;RPL=33;RPP=5.40641;RPPR=11.8771;RPR=25;RUN=1;SAF=0;SAP=128.956;SAR=58;SF=0;SRF=0;SRP=107.241;SRR=48;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon67:c.T16577C:p.V5526A,TTN:NM_001256850:exon68:c.T19358C:p.V6453A,TTN:NM_001267550:exon70:c.T20309C:p.V6770A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.073;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.53;MutationAssessor_pred=L;FATHMM_score=-0.47;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_pred=N;VEST3_score=0.247;CADD_raw=1.964;CADD_phred=15.99;DANN_score=0.942;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.674;MetaSVM_pred=T;MetaLR_score=0.254;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.65;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.517;GDI_full_10282015=.;dpsi_max_tissue=0.1100;dpsi_zscore=0.513;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-115.588,0,-94.3149:109:48:58:1717:1555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179591917 . T C 9765.67 . AB=0.46096;ABP=17.083;AC=1;AF=0.5;AN=2;AO=490;CIGAR=1X;DP=1063;DPB=1063;DPRA=0;EPP=22.3142;EPPR=158.115;GTI=0;LEN=1;MEANALT=3;MQM=39.5245;MQMR=39.8304;NS=1;NUMALT=1;ODDS=2248.63;PAIRED=0.94898;PAIREDR=0.967857;PAO=0;PQA=0;PQR=0;PRO=0;QA=15552;QR=18381;RO=560;RPL=166;RPP=113.64;RPPR=161.233;RPR=324;RUN=1;SAF=320;SAP=102.721;SAR=170;SF=0;SRF=381;SRP=161.233;SRR=179;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon66:c.A16443G:p.I5481M,TTN:NM_001256850:exon67:c.A19224G:p.I6408M,TTN:NM_001267550:exon69:c.A20175G:p.I6725M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs146627500;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0002;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0232;CLNALLELEID=55832;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.114;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.035;MutationAssessor_pred=L;FATHMM_score=0.97;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_pred=N;VEST3_score=0.344;CADD_raw=-1.660;CADD_phred=0.002;DANN_score=0.621;fathmm-MKL_coding_score=0.054;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.083;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-6.74;phyloP7way_vertebrate=0.042;phyloP20way_mammalian=0.144;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=2.94;GDI_full_10282015=.;dpsi_max_tissue=0.1498;dpsi_zscore=0.616;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0.0219;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1008.8,0,-1249.04:1063:560:490:15552:18381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179593352 . C T 14376.11 . AB=0.456067;ABP=19.0374;AC=8;AF=0.5;AN=12;AO=436;CIGAR=1X;DP=6056;DPB=956;DPRA=0;EPP=43.3519;EPPR=29.2316;GTI=0;LEN=1;MEANALT=3;MQM=39.4702;MQMR=39.7108;NS=1;NUMALT=1;ODDS=1863.84;PAIRED=0.990826;PAIREDR=0.953157;PAO=0;PQA=0;PQR=0;PRO=0;QA=12898;QR=14831;RO=491;RPL=191;RPP=17.5333;RPPR=12.7797;RPR=245;RUN=1;SAF=248;SAP=20.9399;SAR=188;SF=0,1;SRF=273;SRP=16.3885;SRR=218;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.G15569A:p.S5190N,TTN:NM_001256850:exon64:c.G18350A:p.S6117N,TTN:NM_001267550:exon66:c.G19301A:p.S6434N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0428;esp6500siv2_ea=0.0246;esp6500siv2_all=0.0428;esp6500siv2_ea=0.0246;1000g2015aug_all=0.0932508;avsnp147=rs11888217;Kaviar_AF=0.0656654;Kaviar_AC=10152;Kaviar_AN=154602;ExAC_ALL=0.0699;ExAC_AFR=0.0869;ExAC_AMR=0.1891;ExAC_EAS=0.0256;ExAC_FIN=0.0580;ExAC_NFE=0.0275;ExAC_OTH=0.0820;ExAC_SAS=0.1750;CLNALLELEID=55821;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.376;SIFT_pred=T;Polyphen2_HDIV_score=0.549;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.258;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.51;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=-1.65;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=1.515;CADD_phred=13.39;DANN_score=0.891;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.792;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.73;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.666;GDI_full_10282015=.;dpsi_max_tissue=0.1455;dpsi_zscore=0.606;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0743;gnomAD_exome_AFR=0.0826;gnomAD_exome_AMR=0.1868;gnomAD_exome_ASJ=0.0360;gnomAD_exome_EAS=0.0260;gnomAD_exome_FIN=0.0564;gnomAD_exome_NFE=0.0266;gnomAD_exome_OTH=0.0623;gnomAD_exome_SAS=0.1743;gnomAD_genome_ALL=0.0495;gnomAD_genome_AFR=0.0820;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0310;gnomAD_genome_FIN=0.0527;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0551;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-825.299,0,-1001.85:956:491:436:12898:14831 . 0/1:-1180.07,0,-1269.44:1220:618:585:17774:18835 . . . . . . . . . . . . . . . . . . . . . . 1/1:-2437.95,-253.071,0:988:14:964:28721:478 . . . . . . 0/1:-1225.03,0,-882.126:1044:447:585:17835:13850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-923.091,0,-998.522:898:453:432:13697:14566:453,432 1/1:-2363.77,-223.452,0:950:23:916:28151:726:23,916 . . . . . . . . . . . . . . . . . . chr2 179593503 . G T 5304.46 . AB=0.517179;ABP=4.42784;AC=1;AF=0.5;AN=2;AO=286;CIGAR=1X;DP=553;DPB=553;DPRA=0;EPP=6.04732;EPPR=3.42112;GTI=0;LEN=1;MEANALT=3;MQM=39.1014;MQMR=39.9691;NS=1;NUMALT=1;ODDS=1148.59;PAIRED=0.968531;PAIREDR=0.996139;PAO=0;PQA=0;PQR=0;PRO=0;QA=8342;QR=7801;RO=259;RPL=145;RPP=3.13178;RPPR=3.08576;RPR=141;RUN=1;SAF=112;SAP=32.1961;SAR=174;SF=0;SRF=120;SRP=6.03695;SRR=139;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.C15418A:p.P5140T,TTN:NM_001256850:exon64:c.C18199A:p.P6067T,TTN:NM_001267550:exon66:c.C19150A:p.P6384T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00159744;avsnp147=rs72648953;Kaviar_AF=0.0027749;Kaviar_AC=429;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0006;ExAC_AMR=0.0003;ExAC_EAS=0.0069;ExAC_FIN=0.0094;ExAC_NFE=0.0032;ExAC_OTH=0.0047;ExAC_SAS=0.0011;CLNALLELEID=55818;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.048;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.215;MutationAssessor_pred=M;FATHMM_score=0.84;FATHMM_pred=T;PROVEAN_score=-4.45;PROVEAN_pred=D;VEST3_score=0.263;CADD_raw=0.886;CADD_phred=9.983;DANN_score=0.687;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.171;MetaSVM_pred=T;MetaLR_score=0.330;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.63;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=20.057;GDI_full_10282015=.;dpsi_max_tissue=-0.0908;dpsi_zscore=-0.421;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0031;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0078;gnomAD_exome_FIN=0.0106;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0076;gnomAD_genome_FIN=0.0089;gnomAD_genome_NFE=0.0032;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-541.428,0,-506.846:553:259:286:8342:7801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179593862 . G A 7107.32 . AB=0.516484;ABP=4.72839;AC=1;AF=0.5;AN=2;AO=376;CIGAR=1X;DP=728;DPB=728;DPRA=0;EPP=56.2345;EPPR=12.1013;GTI=0;LEN=1;MEANALT=3;MQM=40.1622;MQMR=40.0826;NS=1;NUMALT=1;ODDS=1332.87;PAIRED=0.994681;PAIREDR=0.963303;PAO=0;PQA=0;PQR=0;PRO=0;QA=11000;QR=9369;RO=327;RPL=252;RPP=97.6311;RPPR=120.476;RPR=124;RUN=1;SAF=218;SAP=23.801;SAR=158;SF=0;SRF=175;SRP=6.52317;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon62:c.C15171T:p.T5057T,TTN:NM_001256850:exon63:c.C17952T:p.T5984T,TTN:NM_001267550:exon65:c.C18903T:p.T6301T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0065;1000g2015aug_all=0.0241613;avsnp147=rs72648950;Kaviar_AF=0.0238677;Kaviar_AC=3690;Kaviar_AN=154602;ExAC_ALL=0.0258;ExAC_AFR=0.0043;ExAC_AMR=0.1843;ExAC_EAS=0;ExAC_FIN=0.0285;ExAC_NFE=0.0067;ExAC_OTH=0.0286;ExAC_SAS=0.0138;CLNALLELEID=55814;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4775;dpsi_zscore=1.110;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0329;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.1821;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0297;gnomAD_exome_NFE=0.0064;gnomAD_exome_OTH=0.0297;gnomAD_exome_SAS=0.0114;gnomAD_genome_ALL=0.0120;gnomAD_genome_AFR=0.0049;gnomAD_genome_AMR=0.1495;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0258;gnomAD_genome_NFE=0.0065;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-736.229,0,-600.5:728:327:376:11000:9369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179594059 . T C 10742.10 . AB=0.494403;ABP=3.30199;AC=1;AF=0.5;AN=2;AO=530;CIGAR=1X;DP=1072;DPB=1072;DPRA=0;EPP=352.347;EPPR=361.44;GTI=0;LEN=1;MEANALT=3;MQM=39.2755;MQMR=40.1375;NS=1;NUMALT=1;ODDS=2473.46;PAIRED=0.975472;PAIREDR=0.98513;PAO=0;PQA=0;PQR=0;PRO=0;QA=17268;QR=17148;RO=538;RPL=169;RPP=154.046;RPPR=46.6658;RPR=361;RUN=1;SAF=334;SAP=81.0358;SAR=196;SF=0;SRF=315;SRP=37.1726;SRR=223;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon61:c.A15092G:p.N5031S,TTN:NM_001256850:exon62:c.A17873G:p.N5958S,TTN:NM_001267550:exon64:c.A18824G:p.N6275S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs184412722;Kaviar_AF=0.0037904;Kaviar_AC=586;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0244;CLNALLELEID=55811;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.075;SIFT_pred=T;Polyphen2_HDIV_score=0.362;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.11;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.895;MutationAssessor_pred=M;FATHMM_score=0.32;FATHMM_pred=T;PROVEAN_score=-2.25;PROVEAN_pred=N;VEST3_score=0.2;CADD_raw=0.545;CADD_phred=7.770;DANN_score=0.939;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.555;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.92;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=12.2;GDI_full_10282015=.;dpsi_max_tissue=-0.3721;dpsi_zscore=-0.950;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516142#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0.0225;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1142.4,0,-1143.62:1072:538:530:17268:17148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179594107 . G C 13093.20 . AB=0.489177;ABP=4.42035;AC=1;AF=0.5;AN=2;AO=678;CIGAR=1X;DP=1386;DPB=1386;DPRA=0;EPP=40.3673;EPPR=3.03858;GTI=0;LEN=1;MEANALT=3;MQM=39.2522;MQMR=39.3546;NS=1;NUMALT=1;ODDS=3014.83;PAIRED=0.983776;PAIREDR=0.973951;PAO=0;PQA=0;PQR=0;PRO=0;QA=20524;QR=21853;RO=691;RPL=300;RPP=22.4959;RPPR=97.0624;RPR=378;RUN=1;SAF=405;SAP=58.8152;SAR=273;SF=0;SRF=424;SRP=80.47;SRR=267;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon61:c.C15044G:p.T5015S,TTN:NM_001256850:exon62:c.C17825G:p.T5942S,TTN:NM_001267550:exon64:c.C18776G:p.T6259S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0050;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0050;1000g2015aug_all=0.000599042;avsnp147=rs72648949;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0008;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0048;ExAC_OTH=0.0067;ExAC_SAS=0.0008;CLNALLELEID=55809;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.572;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.31;MutationAssessor_pred=N;FATHMM_score=-0.14;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_pred=N;VEST3_score=0.158;CADD_raw=0.841;CADD_phred=9.716;DANN_score=0.784;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.025;MetaSVM_pred=T;MetaLR_score=0.112;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.03;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.955;SiPhy_29way_logOdds=4.760;GDI_full_10282015=.;dpsi_max_tissue=-0.0600;dpsi_zscore=-0.309;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0031;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0319;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-1328.86,0,-1447.25:1386:691:678:20524:21853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179595064 . T A 5149.27 . AB=0.49;ABP=3.53145;AC=1;AF=0.5;AN=2;AO=294;CIGAR=1X;DP=600;DPB=600;DPRA=0;EPP=8.00321;EPPR=3.36146;GTI=0;LEN=1;MEANALT=2;MQM=37.2857;MQMR=39.5578;NS=1;NUMALT=1;ODDS=1185.66;PAIRED=0.921769;PAIREDR=0.983498;PAO=0;PQA=0;PQR=0;PRO=0;QA=8652;QR=9200;RO=303;RPL=198;RPP=79.8538;RPPR=91.3097;RPR=96;RUN=1;SAF=182;SAP=39.2015;SAR=112;SF=0;SRF=207;SRP=91.3097;SRR=96;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon59:c.A14331T:p.Q4777H,TTN:NM_001256850:exon60:c.A17112T:p.Q5704H,TTN:NM_001267550:exon62:c.A18063T:p.Q6021H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752853744;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=9.223e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.662e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.201;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.961;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.48;MutationAssessor_pred=M;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=-2.64;PROVEAN_pred=D;VEST3_score=0.425;CADD_raw=1.402;CADD_phred=12.80;DANN_score=0.882;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.225;MetaSVM_pred=T;MetaLR_score=0.434;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.32;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.058;GDI_full_10282015=.;dpsi_max_tissue=-0.1449;dpsi_zscore=-0.569;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.194e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.31e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-534.399,0,-601.64:600:303:294:8652:9200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179595117 . C G 2940.93 . AB=0.539894;ABP=8.20797;AC=45;AF=0.5;AN=76;AO=203;CIGAR=1X;DP=11083;DPB=376;DPRA=0;EPP=95.5279;EPPR=97.59;GTI=0;LEN=1;MEANALT=3;MQM=39.5468;MQMR=40.0617;NS=1;NUMALT=1;ODDS=643.425;PAIRED=0.995074;PAIREDR=0.987654;PAO=0;PQA=0;PQR=0;PRO=0;QA=5291;QR=4726;RO=162;RPL=113;RPP=8.66896;RPPR=8.37196;RPR=90;RUN=1;SAF=120;SAP=17.6544;SAR=83;SF=0,1;SRF=100;SRP=22.3659;SRR=62;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2005;esp6500siv2_ea=0.1789;esp6500siv2_all=0.2005;esp6500siv2_ea=0.1789;1000g2015aug_all=0.348043;avsnp147=rs17076;Kaviar_AF=0.233147;Kaviar_AC=36045;Kaviar_AN=154602;ExAC_ALL=0.2568;ExAC_AFR=0.2636;ExAC_AMR=0.4153;ExAC_EAS=0.6695;ExAC_FIN=0.1533;ExAC_NFE=0.1836;ExAC_OTH=0.2136;ExAC_SAS=0.2777;CLNALLELEID=141541;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8591;dpsi_zscore=-1.854;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2478;gnomAD_exome_AFR=0.2584;gnomAD_exome_AMR=0.3764;gnomAD_exome_ASJ=0.1693;gnomAD_exome_EAS=0.6644;gnomAD_exome_FIN=0.1480;gnomAD_exome_NFE=0.1770;gnomAD_exome_OTH=0.2278;gnomAD_exome_SAS=0.2557;gnomAD_genome_ALL=0.2267;gnomAD_genome_AFR=0.2593;gnomAD_genome_AMR=0.3657;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.6495;gnomAD_genome_FIN=0.1412;gnomAD_genome_NFE=0.1788;gnomAD_genome_OTH=0.1878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-347.132,0,-299.769:376:162:203:5291:4726 . . . . . . . . . 0/1:-264.806,0,-267.017:305:149:146:4088:4134 0/1:-258.577,0,-275.929:311:148:157:4112:4328 0/1:-181.272,0,-206.021:255:116:122:2901:3254 . . . . . 1/1:-433.503,-52.3778,0:201:3:192:5139:71 . 0/1:-312.708,0,-368.739:398:193:196:4963:5565 . . . . . 0/1:-287.967,0,-372.803:380:192:172:4584:5691 . . . 0/1:-328.162,0,-387.673:434:207:212:5198:6025 . . . . . 0/1:-262.088,0,-355.511:353:186:159:4249:5415 . 1/1:-292.706,-32.4429,0:139:3:129:3441:82 . . 0/1:-260.748,0,-257.762:305:138:149:3957:3937 0/1:-261.951,0,-353.467:369:187:167:4225:5456 . . 0/1:-205.025,0,-332.752:315:163:142:3516:4907 1/1:-434.503,-53.4245,0:213:3:203:5206:96 . 1/1:-794.307,-88.3261,0:373:7:350:9530:217 0/1:-235.172,0,-273.86:294:140:146:3760:4171 . . 0/1:-289.048,0,-366.225:364:191:162:4527:5553 0/1:-258.565,0,-223.461:286:124:154:3980:3679 . 0/1:-312.071,0,-252.495:319:137:174:4656:4069 . . . 0/1:-137.157,0,-179.892:209:102:98:2358:2858 0/1:-332.184,0,-343.588:386:183:193:5183:5299 . 0/1:-180.192,0,-225.83:249:123:118:2929:3455 . 0/1:-295.455,0,-300.593:322:151:161:4550:4588 0/1:-222.167,0,-146.34:235:89:131:3346:2596 0/1:-251.966,0,-324.739:338:172:156:4086:5005 . . . . . . . 0/1:-308.465,0,-329.695:365:175:179:4822:5117 . 0/1:-292.567,0,-350.605:345:174:162:4586:5262 . . . . . . . . . 0/1:-318.675,0,-266.893:356:157:186:4981:4280 . 1/1:-800.929,-93.3929,0:378:8:362:9503:203 1/1:-866.953,-99.4188,0:412:9:389:10315:230 0/1:-209.514,0,-210.448:252:114:126:3221:3293 . . . . . . 0/1:-194.747,0,-203.33:196:94:98:2982:3012:94,98 . . . . 0/1:-201.464,0,-158.551:181:79:100:2982:2468:79,100 . 1/1:-413.284,-43.6207,0:168:4:161:4895:92:4,161 . 0/1:-178.752,0,-223.49:190:102:86:2694:3261:102,86 . 0/1:-240.009,0,-204.059:208:97:109:3456:3099:97,109 . . . 0/1:-175.461,0,-184.718:171:84:85:2628:2715:84,85 . 0/1:-99.5543,0,-161.004:132:78:52:1605:2312:78,52 chr2 179595808 . C T 10347.60 . AB=0.467009;ABP=14.0426;AC=1;AF=0.5;AN=2;AO=545;CIGAR=1X;DP=1167;DPB=1167;DPRA=0;EPP=16.8798;EPPR=4.46279;GTI=0;LEN=1;MEANALT=3;MQM=39.033;MQMR=39.597;NS=1;NUMALT=1;ODDS=2382.62;PAIRED=0.952294;PAIREDR=0.939799;PAO=0;PQA=0;PQR=0;PRO=0;QA=16544;QR=18801;RO=598;RPL=224;RPP=40.4991;RPPR=39.3225;RPR=321;RUN=1;SAF=247;SAP=13.3736;SAR=298;SF=0;SRF=268;SRP=16.9687;SRR=330;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon57:c.G13852A:p.E4618K,TTN:NM_001256850:exon58:c.G16633A:p.E5545K,TTN:NM_001267550:exon60:c.G17584A:p.E5862K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756303980;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.286e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.865;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_pred=L;FATHMM_score=-0.24;FATHMM_pred=T;PROVEAN_score=-2.24;PROVEAN_pred=N;VEST3_score=0.375;CADD_raw=3.202;CADD_phred=22.7;DANN_score=0.987;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.111;MetaSVM_pred=T;MetaLR_score=0.475;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.96;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.422;GDI_full_10282015=.;dpsi_max_tissue=-0.2336;dpsi_zscore=-0.748;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.066e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.969e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1049.5,0,-1257.91:1167:598:545:16544:18801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179596554 . T C 8015.41 . AB=0.467113;ABP=11.4372;AC=2;AF=0.5;AN=4;AO=419;CIGAR=1X;DP=1939;DPB=897;DPRA=0;EPP=49.7825;EPPR=48.5448;GTI=0;LEN=1;MEANALT=3;MQM=38.0239;MQMR=39.559;NS=1;NUMALT=1;ODDS=1606.22;PAIRED=0.954654;PAIREDR=0.969432;PAO=0;PQA=0;PQR=0;PRO=0;QA=11734;QR=14126;RO=458;RPL=259;RPP=53.8041;RPPR=78.2817;RPR=160;RUN=1;SAF=233;SAP=14.4585;SAR=186;SF=0;SRF=226;SRP=3.18098;SRR=232;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon55:c.A13316G:p.Y4439C,TTN:NM_001256850:exon56:c.A16097G:p.Y5366C,TTN:NM_001267550:exon58:c.A17048G:p.Y5683C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0072;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0072;1000g2015aug_all=0.00199681;avsnp147=rs72648942;Kaviar_AF=0.0058667;Kaviar_AC=907;Kaviar_AN=154602;ExAC_ALL=0.0058;ExAC_AFR=0.0019;ExAC_AMR=0.0019;ExAC_EAS=0.0002;ExAC_FIN=0.0023;ExAC_NFE=0.0086;ExAC_OTH=0.0044;ExAC_SAS=0.0044;CLNALLELEID=55786;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.106;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.665;MutationAssessor_pred=M;FATHMM_score=-0.39;FATHMM_pred=T;PROVEAN_score=-4.81;PROVEAN_pred=D;VEST3_score=0.577;CADD_raw=-1.446;CADD_phred=0.003;DANN_score=0.352;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.702;MetaSVM_pred=T;MetaLR_score=0.233;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.8;phyloP7way_vertebrate=0.076;phyloP20way_mammalian=-0.212;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=10.476;GDI_full_10282015=.;dpsi_max_tissue=-0.1950;dpsi_zscore=-0.678;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0056;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0.0104;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0033;gnomAD_exome_NFE=0.0081;gnomAD_exome_OTH=0.0059;gnomAD_exome_SAS=0.0055;gnomAD_genome_ALL=0.0043;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0063;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-716.714,0,-940.189:897:458:419:11734:14126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-923.632,0,-1105.3:1042:528:493:14650:16533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179597590 . T C 6153.68 . AB=0.505935;ABP=3.21649;AC=1;AF=0.5;AN=2;AO=341;CIGAR=1X;DP=674;DPB=674;DPRA=0;EPP=5.81857;EPPR=3.68051;GTI=0;LEN=1;MEANALT=3;MQM=36.9384;MQMR=37.4167;NS=1;NUMALT=1;ODDS=1357.18;PAIRED=0.956012;PAIREDR=0.972222;PAO=0;PQA=0;PQR=0;PRO=0;QA=10039;QR=9771;RO=324;RPL=140;RPP=26.7055;RPPR=6.8707;RPR=201;RUN=1;SAF=197;SAP=20.8979;SAR=144;SF=0;SRF=193;SRP=28.7731;SRR=131;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon52:c.A12581G:p.K4194R,TTN:NM_001256850:exon53:c.A15362G:p.K5121R,TTN:NM_001267550:exon55:c.A16313G:p.K5438R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000199681;avsnp147=rs190636272;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0002;ExAC_AMR=8.764e-05;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0013;ExAC_OTH=0.0023;ExAC_SAS=0;CLNALLELEID=55780;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.453;SIFT_pred=T;Polyphen2_HDIV_score=0.98;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.819;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.3;MutationAssessor_pred=N;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-1.76;PROVEAN_pred=N;VEST3_score=0.468;CADD_raw=1.652;CADD_phred=14.14;DANN_score=0.956;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.428;MetaSVM_pred=T;MetaLR_score=0.279;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=-0.3705;dpsi_zscore=-0.948;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=5.97e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-627.035,0,-599.638:674:324:341:10039:9771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179597600 . C T 6685.49 . AB=0.530488;ABP=8.30657;AC=4;AF=0.5;AN=8;AO=348;CIGAR=1X;DP=3023;DPB=656;DPRA=0;EPP=5.50625;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=37.5891;MQMR=38.2919;NS=1;NUMALT=1;ODDS=1229.84;PAIRED=0.962644;PAIREDR=0.979866;PAO=0;PQA=0;PQR=0;PRO=0;QA=9816;QR=8822;RO=298;RPL=162;RPP=6.60446;RPPR=4.87573;RPR=186;RUN=1;SAF=182;SAP=4.6077;SAR=166;SF=0,1;SRF=164;SRP=9.56844;SRR=134;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon52:c.G12571A:p.V4191M,TTN:NM_001256850:exon53:c.G15352A:p.V5118M,TTN:NM_001267550:exon55:c.G16303A:p.V5435M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0082;esp6500siv2_ea=0.0091;esp6500siv2_all=0.0082;esp6500siv2_ea=0.0091;1000g2015aug_all=0.00359425;avsnp147=rs72648937;Kaviar_AF=0.0058214;Kaviar_AC=900;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0047;ExAC_AMR=0.0018;ExAC_EAS=0.0001;ExAC_FIN=0.0033;ExAC_NFE=0.0080;ExAC_OTH=0.0045;ExAC_SAS=0.0032;CLNALLELEID=55779;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.222;SIFT_pred=T;Polyphen2_HDIV_score=0.086;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.04;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.21;MutationAssessor_pred=L;FATHMM_score=-0.37;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_pred=N;VEST3_score=0.364;CADD_raw=2.783;CADD_phred=21.3;DANN_score=0.945;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.775;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.3;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.985;SiPhy_29way_logOdds=15.870;GDI_full_10282015=.;dpsi_max_tissue=0.3720;dpsi_zscore=0.987;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0058;gnomAD_exome_AFR=0.0064;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0106;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0085;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0036;gnomAD_genome_ALL=0.0073;gnomAD_genome_AFR=0.0057;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0094;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-628.282,0,-543.305:656:298:348:9816:8822 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-689.034,0,-771.769:788:406:371:11006:11916 . . . . . . 0/1:-572.319,0,-641.513:669:337:317:9250:9964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-918.244,0,-980.518:910:464:441:13758:14448:464,441 . . . . . . . . . . . . . . . . . . . chr2 179597998 . C T 2302.76 . AB=0.515504;ABP=3.54896;AC=1;AF=0.5;AN=2;AO=133;CIGAR=1X;DP=258;DPB=258;DPRA=0;EPP=25.3618;EPPR=55.7771;GTI=0;LEN=1;MEANALT=3;MQM=38.8496;MQMR=38.85;NS=1;NUMALT=1;ODDS=509.92;PAIRED=0.992481;PAIREDR=0.991667;PAO=0;PQA=0;PQR=0;PRO=0;QA=3931;QR=3949;RO=120;RPL=52;RPP=16.7412;RPPR=29.1404;RPR=81;RUN=1;SAF=115;SAP=156.63;SAR=18;SF=0;SRF=108;SRP=169.779;SRR=12;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon51:c.G12290A:p.S4097N,TTN:NM_001256850:exon52:c.G15071A:p.S5024N,TTN:NM_001267550:exon54:c.G16022A:p.S5341N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.371;SIFT_pred=T;Polyphen2_HDIV_score=0.055;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.01;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-1.67;PROVEAN_pred=N;VEST3_score=0.166;CADD_raw=1.999;CADD_phred=16.20;DANN_score=0.906;fathmm-MKL_coding_score=0.626;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.617;MetaSVM_pred=T;MetaLR_score=0.268;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.19;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.261;GDI_full_10282015=.;dpsi_max_tissue=0.0501;dpsi_zscore=0.298;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-257.801,0,-255.336:258:120:133:3931:3949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179598139 . C A 10513.60 . AB=0.486509;ABP=4.94385;AC=1;AF=0.5;AN=2;AO=595;CIGAR=1X;DP=1223;DPB=1223;DPRA=0;EPP=11.7728;EPPR=8.13384;GTI=0;LEN=1;MEANALT=3;MQM=37.7731;MQMR=39.1389;NS=1;NUMALT=1;ODDS=2420.85;PAIRED=0.951261;PAIREDR=0.968954;PAO=0;PQA=0;PQR=0;PRO=0;QA=17344;QR=18633;RO=612;RPL=382;RPP=107.245;RPPR=177.878;RPR=213;RUN=1;SAF=215;SAP=102.369;SAR=380;SF=0;SRF=204;SRP=150.67;SRR=408;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon51:c.G12149T:p.W4050L,TTN:NM_001256850:exon52:c.G14930T:p.W4977L,TTN:NM_001267550:exon54:c.G15881T:p.W5294L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.62;MutationAssessor_pred=H;FATHMM_score=-3.96;FATHMM_pred=D;PROVEAN_score=-8.64;PROVEAN_pred=D;VEST3_score=0.61;CADD_raw=3.544;CADD_phred=23.1;DANN_score=0.961;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=1.066;MetaSVM_pred=D;MetaLR_score=0.972;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.86;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.188;GDI_full_10282015=.;dpsi_max_tissue=1.0371;dpsi_zscore=1.542;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1080.98,0,-1214.38:1223:612:595:17344:18633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179598228 . A G 5425.14 . AB=0.487132;ABP=3.79267;AC=21;AF=0.5;AN=40;AO=265;CIGAR=1X;DP=10618;DPB=544;DPRA=0;EPP=115.181;EPPR=107.438;GTI=0;LEN=1;MEANALT=3;MQM=38.1774;MQMR=38.2909;NS=1;NUMALT=1;ODDS=1132.19;PAIRED=0.977358;PAIREDR=0.952727;PAO=0;PQA=0;PQR=0;PRO=0;QA=8015;QR=8964;RO=275;RPL=147;RPP=9.90165;RPPR=11.6093;RPR=118;RUN=1;SAF=150;SAP=13.0482;SAR=115;SF=0,1;SRF=159;SRP=17.6105;SRR=116;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon51:c.T12060C:p.I4020I,TTN:NM_001256850:exon52:c.T14841C:p.I4947I,TTN:NM_001267550:exon54:c.T15792C:p.I5264I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0589;esp6500siv2_ea=0.0792;esp6500siv2_all=0.0589;esp6500siv2_ea=0.0792;1000g2015aug_all=0.0295527;avsnp147=rs12993099;Kaviar_AF=0.0534663;Kaviar_AC=8266;Kaviar_AN=154602;ExAC_ALL=0.0537;ExAC_AFR=0.0102;ExAC_AMR=0.0415;ExAC_EAS=0.0002;ExAC_FIN=0.0446;ExAC_NFE=0.0786;ExAC_OTH=0.0725;ExAC_SAS=0.0173;CLNALLELEID=55772;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5568;dpsi_zscore=1.188;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0530;gnomAD_exome_AFR=0.0115;gnomAD_exome_AMR=0.0446;gnomAD_exome_ASJ=0.0603;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0453;gnomAD_exome_NFE=0.0797;gnomAD_exome_OTH=0.0715;gnomAD_exome_SAS=0.0166;gnomAD_genome_ALL=0.0505;gnomAD_genome_AFR=0.0133;gnomAD_genome_AMR=0.0656;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0432;gnomAD_genome_NFE=0.0776;gnomAD_genome_OTH=0.0570;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-512.396,0,-573.399:544:275:265:8015:8964 0/1:-412.449,0,-387.304:417:200:214:6647:6251 . . . . . 0/1:-259.744,0,-340.623:322:173:144:4285:5379 . . . . . . . . . . . 0/1:-714.194,0,-630.507:670:310:351:11023:9889 . . . . . 0/1:-522.751,0,-616.848:565:290:266:8170:9242 . . . . . . . . . 0/1:-280.592,0,-335.132:326:171:152:4495:5286 . 0/1:-603.811,0,-651.432:627:309:311:9407:9849 0/1:-525.309,0,-668.118:583:308:270:8358:9975 . . 0/1:-597.078,0,-624.852:595:289:295:9090:9416 . . . . . . . 0/1:-617.453,0,-812.497:710:386:317:9849:12327 . . . . 0/1:-246.408,0,-197.002:251:108:141:3962:3285 0/1:-508.767,0,-471.592:519:257:258:7876:7767 . . . . . . . 0/1:-670.824,0,-624.917:686:321:355:10835:9973 . . . . . . . . . . . . . 0/1:-447.946,0,-522.786:494:257:233:7124:8003 1/1:-1648.58,-156.87,0:679:15:654:20175:505 0/1:-486.867,0,-524.114:522:263:253:7710:8208 . . . . . . 0/1:-689.371,0,-661.104:638:303:324:10181:9828:303,324 . . . . . . 0/1:-541.893,0,-501.622:514:242:266:8186:7596:242,266 . 0/1:-446.706,0,-479.309:441:222:214:6765:7207:222,214 . 0/1:-523.937,0,-575.967:515:263:250:7848:8537:263,250 . . . . . . chr2 179599473 . C G 2059.85 . AB=0.536;ABP=4.41741;AC=3;AF=0.5;AN=6;AO=67;CIGAR=1X;DP=685;DPB=125;DPRA=0;EPP=20.1552;EPPR=3.36563;GTI=0;LEN=1;MEANALT=2;MQM=38.7313;MQMR=39.8364;NS=1;NUMALT=1;ODDS=229.861;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1940;QR=1662;RO=55;RPL=32;RPP=3.30199;RPPR=17.2631;RPR=35;RUN=1;SAF=33;SAP=3.04271;SAR=34;SF=0;SRF=28;SRP=3.04978;SRR=27;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon48:c.G11446C:p.V3816L,TTN:NM_001256850:exon49:c.G14227C:p.V4743L,TTN:NM_001267550:exon51:c.G15178C:p.V5060L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0038;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0038;1000g2015aug_all=0.00339457;avsnp147=rs72648929;Kaviar_AF=0.0034864;Kaviar_AC=539;Kaviar_AN=154602;ExAC_ALL=0.0035;ExAC_AFR=0.0003;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0014;ExAC_NFE=0.0039;ExAC_OTH=0.0045;ExAC_SAS=0.0086;CLNALLELEID=55764;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.586;SIFT_pred=T;Polyphen2_HDIV_score=0.708;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.387;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.68;MutationAssessor_pred=N;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_pred=N;VEST3_score=0.244;CADD_raw=1.514;CADD_phred=13.38;DANN_score=0.452;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.597;MetaSVM_pred=T;MetaLR_score=0.234;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.900;phastCons20way_mammalian=0.056;SiPhy_29way_logOdds=19.757;GDI_full_10282015=.;dpsi_max_tissue=-1.6726;dpsi_zscore=-1.786;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0033;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0088;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0017;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0079;gnomAD_genome_ALL=0.0020;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0067;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-127.94,0,-106.902:125:55:67:1940:1662 . . . . . . . . . . . . . . . . . . . . 0/1:-251.853,0,-229.57:246:120:123:3784:3639 . . . . 0/1:-267.191,0,-329.583:314:161:145:4210:4886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179599667 . G C 3324.47 . AB=0.439803;ABP=15.8204;AC=4;AF=0.5;AN=8;AO=179;CIGAR=1X;DP=1492;DPB=407;DPRA=0;EPP=21.4617;EPPR=20.9097;GTI=0;LEN=1;MEANALT=3;MQM=38.9609;MQMR=40.014;NS=1;NUMALT=1;ODDS=646.956;PAIRED=0.949721;PAIREDR=0.915888;PAO=0;PQA=0;PQR=0;PRO=0;QA=4896;QR=6414;RO=214;RPL=131;RPP=86.5817;RPPR=144.298;RPR=48;RUN=1;SAF=79;SAP=8.36013;SAR=100;SF=0,1;SRF=90;SRP=14.7403;SRR=124;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon48:c.C11252G:p.P3751R,TTN:NM_001256850:exon49:c.C14033G:p.P4678R,TTN:NM_001267550:exon51:c.C14984G:p.P4995R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0090;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0090;1000g2015aug_all=0.00439297;avsnp147=rs72648927;Kaviar_AF=0.0072703;Kaviar_AC=1124;Kaviar_AN=154602;ExAC_ALL=0.0106;ExAC_AFR=0.0019;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0.0333;ExAC_NFE=0.0130;ExAC_OTH=0.0093;ExAC_SAS=0.0061;CLNALLELEID=55760;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.332;SIFT_pred=T;Polyphen2_HDIV_score=0.669;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.335;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.42;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;PROVEAN_score=-4.23;PROVEAN_pred=D;VEST3_score=0.42;CADD_raw=1.674;CADD_phred=14.26;DANN_score=0.883;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.072;MetaSVM_pred=T;MetaLR_score=0.043;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.88;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=13.436;GDI_full_10282015=.;dpsi_max_tissue=0.9943;dpsi_zscore=1.517;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1310239#"Cardiac_dysrhythmia";gnomAD_exome_ALL=0.0080;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0109;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0247;gnomAD_exome_NFE=0.0092;gnomAD_exome_OTH=0.0070;gnomAD_exome_SAS=0.0050;gnomAD_genome_ALL=0.0090;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0258;gnomAD_genome_NFE=0.0107;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-299.733,0,-433.011:407:214:179:4896:6414 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-446.184,0,-300.38:417:167:237:6700:4803 . . . . . . 0/1:-382.399,0,-356.176:410:194:207:5852:5537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-248.229,0,-279.249:258:131:122:3752:4104:131,122 . . . . . . . . . . . . . . . . . . . chr2 179600303 . G C 5108.35 . AB=0.441331;ABP=20.0816;AC=2;AF=0.5;AN=4;AO=252;CIGAR=1X;DP=1170;DPB=571;DPRA=0;EPP=75.9442;EPPR=33.523;GTI=0;LEN=1;MEANALT=3;MQM=37.5397;MQMR=39.7645;NS=1;NUMALT=1;ODDS=1016.02;PAIRED=0.988095;PAIREDR=0.990323;PAO=0;PQA=0;PQR=0;PRO=0;QA=7777;QR=9542;RO=310;RPL=78;RPP=82.4241;RPPR=84.7137;RPR=174;RUN=1;SAF=178;SAP=96.2113;SAR=74;SF=0;SRF=203;SRP=67.5661;SRR=107;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.C11138G:p.T3713S,TTN:NM_001256850:exon48:c.C13919G:p.T4640S,TTN:NM_001267550:exon50:c.C14870G:p.T4957S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0035;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0035;1000g2015aug_all=0.00179712;avsnp147=rs72648925;Kaviar_AF=0.0031436;Kaviar_AC=486;Kaviar_AN=154602;ExAC_ALL=0.0032;ExAC_AFR=0.0005;ExAC_AMR=0.0055;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0043;ExAC_OTH=0.0023;ExAC_SAS=0.0015;CLNALLELEID=55759;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.845;SIFT_pred=T;Polyphen2_HDIV_score=0.042;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.94;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_pred=N;VEST3_score=0.324;CADD_raw=1.289;CADD_phred=12.21;DANN_score=0.787;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.764;MetaSVM_pred=T;MetaLR_score=0.210;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.79;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.975;SiPhy_29way_logOdds=13.953;GDI_full_10282015=.;dpsi_max_tissue=0.1305;dpsi_zscore=0.569;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0029;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0051;gnomAD_exome_ASJ=0.0104;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0032;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . 0/1:-475.032,0,-645.217:571:310:252:7777:9542 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-603.201,0,-603.781:599:294:296:9186:9106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179600475 . C T 4799.09 . AB=0.486559;ABP=3.59403;AC=2;AF=0.5;AN=4;AO=181;CIGAR=1X;DP=1032;DPB=372;DPRA=0;EPP=56.8652;EPPR=74.141;GTI=0;LEN=1;MEANALT=3;MQM=36.7901;MQMR=38.6906;NS=1;NUMALT=1;ODDS=727.612;PAIRED=0.977901;PAIREDR=0.966851;PAO=0;PQA=0;PQR=0;PRO=0;QA=5297;QR=5673;RO=181;RPL=78;RPP=10.5085;RPPR=16.0751;RPR=103;RUN=1;SAF=98;SAP=5.70964;SAR=83;SF=0;SRF=91;SRP=3.0223;SRR=90;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.G10966A:p.A3656T,TTN:NM_001256850:exon48:c.G13747A:p.A4583T,TTN:NM_001267550:exon50:c.G14698A:p.A4900T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0033;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0033;1000g2015aug_all=0.00179712;avsnp147=rs72648923;Kaviar_AF=0.0030336;Kaviar_AC=469;Kaviar_AN=154602;ExAC_ALL=0.0034;ExAC_AFR=0.0001;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0152;ExAC_NFE=0.0044;ExAC_OTH=0.0056;ExAC_SAS=0.0005;CLNALLELEID=55756;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.745;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.956;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.645;MutationAssessor_pred=N;FATHMM_score=-0.24;FATHMM_pred=T;PROVEAN_score=-1.73;PROVEAN_pred=N;VEST3_score=0.267;CADD_raw=2.746;CADD_phred=21.1;DANN_score=0.911;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.375;MetaSVM_pred=T;MetaLR_score=0.284;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.77;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.952;phastCons20way_mammalian=0.307;SiPhy_29way_logOdds=20.363;GDI_full_10282015=.;dpsi_max_tissue=-0.2544;dpsi_zscore=-0.783;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=6.546e-05;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0155;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0065;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0126;gnomAD_genome_NFE=0.0096;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-329.559,0,-373.111:372:181:181:5297:5673 . . . . . . . . . . . . . . . 0/1:-666.003,0,-614.508:660:312:335:10202:9555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179600563 . G A 16824.60 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=668;CIGAR=1X;DP=78701;DPB=674;DPRA=0;EPP=32.9688;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=38.521;MQMR=0;NS=1;NUMALT=1;ODDS=929.04;PAIRED=0.980539;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=19290;QR=0;RO=0;RPL=264;RPP=66.7242;RPPR=0;RPR=404;RUN=1;SAF=396;SAP=52.9932;SAR=272;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.C10878T:p.S3626S,TTN:NM_001256850:exon48:c.C13659T:p.S4553S,TTN:NM_001267550:exon50:c.C14610T:p.S4870S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9810;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9810;esp6500siv2_ea=0.9999;1000g2015aug_all=0.981829;avsnp147=rs2742348;Kaviar_AF=0.943662;Kaviar_AC=145892;Kaviar_AN=154602;ExAC_ALL=0.9949;ExAC_AFR=0.9424;ExAC_AMR=0.9974;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9989;ExAC_SAS=0.9999;CLNALLELEID=55755;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1931;dpsi_zscore=-0.674;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9957;gnomAD_exome_AFR=0.9416;gnomAD_exome_AMR=0.9968;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9996;gnomAD_exome_OTH=0.9982;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9840;gnomAD_genome_AFR=0.9445;gnomAD_genome_AMR=0.9928;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1631.35,-201.088,0:674:0:668:19290:0 1/1:-2014.53,-244.792,0:825:1:813:23698:14 1/1:-1633,-199.549,0:673:1:664:19210:14 1/1:-1156.65,-140.581,0:474:0:467:13570:0 1/1:-1722.5,-207.109,0:695:0:688:19966:0 1/1:-1993.24,-242.912,0:821:1:810:23311:14 1/1:-1518.81,-183.919,0:625:1:614:17815:14 1/1:-1922.12,-236.61,0:794:0:786:22613:0 1/1:-1481.78,-180.618,0:608:0:600:17306:0 1/1:-1935.86,-231.191,0:770:0:768:22664:0 1/1:-1573.18,-189.849,0:641:1:636:18300:21 1/1:-1797.93,-218.849,0:736:0:727:21008:0 1/1:-1618.55,-196.272,0:657:0:652:18869:0 1/1:-1453.94,-182.725,0:613:0:607:17426:0 1/1:-1510.57,-184.931,0:625:1:619:17825:21 1/1:-2566.23,-305.771,0:1032:2:1022:30094:28 1/1:-1365.79,-167.887,0:572:1:563:16160:21 1/1:-3337.89,-402.723,0:1349:1:1341:38876:14 1/1:-1677.47,-204.365,0:690:2:683:19565:28 1/1:-1256.59,-152.758,0:526:1:517:14856:36 1/1:-1285.04,-157.138,0:524:0:522:15154:0 1/1:-2052.84,-247.39,0:835:1:825:24312:14 1/1:-1074.75,-134.825,0:459:2:454:12875:28 1/1:-2026.92,-244.436,0:819:0:812:23519:0 1/1:-2087.17,-255.53,0:857:1:850:24578:14 1/1:-1394.46,-171.888,0:573:0:571:16634:0 1/1:-1667.16,-200.486,0:671:0:666:19396:0 1/1:-2056.77,-244.682,0:823:1:816:24060:14 1/1:-1312.24,-162.857,0:546:0:541:15460:0 1/1:-1313.28,-159.245,0:531:0:529:15366:0 1/1:-1713.76,-204.984,0:691:1:687:20117:32 1/1:-2323.33,-277.747,0:934:1:928:27259:21 1/1:-1834.55,-226.063,0:763:1:754:21617:14 1/1:-414.204,-51.6664,0:177:1:175:4840:14 1/1:-1923.76,-229.987,0:770:0:764:22511:0 1/1:-2007.03,-248.35,0:832:0:825:23754:0 1/1:-607.94,-73.4513,0:247:0:244:7096:0 1/1:-1804.08,-217.589,0:730:1:726:21058:14 1/1:-1615.57,-201.991,0:678:0:671:19113:0 1/1:-615.241,-74.6554,0:252:0:248:7283:0 1/1:-2263.15,-273.383,0:916:1:908:26490:21 1/1:-1452.02,-179.715,0:601:0:597:17057:0 1/1:-1508.25,-179.715,0:601:0:597:17677:0 1/1:-1621.6,-198.078,0:666:0:658:18969:0 1/1:-2269.84,-270.112,0:929:4:918:26741:96 1/1:-1940.55,-234.803,0:787:0:780:22556:0 1/1:-1778.42,-214.333,0:719:0:712:20958:0 1/1:-1007.15,-122.218,0:409:0:406:11830:0 1/1:-1417.34,-167.674,0:560:0:557:16408:0 1/1:-1969.75,-240.824,0:807:0:800:22966:0 1/1:-1853.59,-219.586,0:749:3:742:21777:64 1/1:-1703.44,-215.236,0:719:0:715:20369:0 1/1:-2233.76,-261.595,0:879:0:869:26042:0 1/1:-1988.14,-234.803,0:785:0:780:23390:0 1/1:-1323.84,-161.653,0:539:0:537:15563:0 1/1:-1395.12,-168.577,0:564:0:560:16253:0 1/1:-1866.09,-223.665,0:750:0:743:21773:0 1/1:-1030.23,-125.228,0:420:0:416:12142:0 1/1:-1247.4,-152.02,0:509:0:505:14684:0 1/1:-1707.49,-210.664,0:715:1:703:20128:14 1/1:-1157.7,-143.258,0:484:1:477:13875:14 1/1:-2193.79,-267.014,0:894:0:887:25717:0 1/1:-1587.21,-192.96,0:646:0:641:18672:0 1/1:-1322.89,-165.567,0:558:0:550:15791:0 1/1:-2234.39,-270.325,0:909:0:898:26218:0 1/1:-1768.39,-213.43,0:711:0:709:20611:0 1/1:-854.688,-109.274,0:369:0:363:10101:0 1/1:-2009.77,-242.63,0:813:0:806:23441:0 1/1:-1470.99,-175.199,0:591:0:582:17275:0 1/1:-1775.94,-219.139,0:741:1:731:21009:14 1/1:-1663.22,-198.68,0:662:0:660:19597:0 1/1:-2068.85,-244.737,0:817:0:813:24061:0 1/1:-2021.64,-245.942,0:821:0:817:23837:0 1/1:-1105.82,-144.638,0:487:2:485:13184:28 1/1:-1449.36,-173.092,0:580:0:575:16872:0 1/1:-2005.13,-245.64,0:821:0:816:23533:0 1/1:-1922.59,-233.968,0:783:1:777:22517:14 1/1:-1829.24,-215.982,0:735:1:726:21518:32 1/1:-1197.31,-143.591,0:479:0:477:14008:0 1/1:-1128.98,-133.958,0:448:0:445:13339:0 1/1:-1850.67,-222.35,0:752:2:745:21759:28 1/1:-1989.68,-241.426,0:811:0:802:23198:0 1/1:-2002.64,-239.057,0:821:2:811:23509:64 1/1:-1666.65,-203.797,0:682:0:677:19633:0 1/1:-1485.33,-179.414,0:599:0:596:17437:0 1/1:-1442.65,-174.317,0:589:2:580:16860:28 1/1:-1282.04,-157.439,0:533:0:523:15153:0 1/1:-2035.53,-247.146,0:827:0:821:23901:0 1/1:-1045.03,-125.831,0:421:0:418:12238:0 1/1:-1908.16,-232.395,0:778:0:772:22292:0 1/1:-2342.25,-274.238,0:918:0:911:27443:0 1/1:-1406.99,-171.286,0:575:0:569:16429:0 1/1:-2116.48,-256.177,0:856:0:851:24861:0 1/1:-1752.19,-208.504,0:703:1:694:20424:32 1/1:-1933.29,-230.89,0:777:0:767:22579:0 . 1/1:-1677.36,-190.777,0:648:2:640:19454:28:2,640 1/1:-2054.7,-233.298,0:780:0:775:23766:0:0,775 1/1:-2056.47,-230.589,0:769:0:766:23704:0:0,766 1/1:-1097.86,-125.53,0:419:0:417:12648:0:0,417 1/1:-1790.96,-206.808,0:689:0:687:20785:0:0,687 1/1:-2235.87,-250.402,0:837:1:835:25729:14:1,835 1/1:-1739.87,-194.411,0:659:1:649:20117:14:1,649 1/1:-1977.07,-226.809,0:769:1:763:23172:36:1,763 1/1:-1761.47,-201.69,0:675:0:670:20390:0:0,670 1/1:-1753.67,-200.486,0:669:0:666:20217:0:0,666 1/1:-2123.78,-240.222,0:802:0:798:24481:0:0,798 1/1:-1643.7,-187.241,0:627:0:622:18946:0:0,622 1/1:-1805.9,-206.507,0:692:0:686:20866:0:0,686 1/1:-1834.3,-210.721,0:704:0:700:21198:0:0,700 1/1:-2042.16,-234.001,0:790:1:783:23664:27:1,783 1/1:-1675.9,-192.057,0:644:0:638:19418:0:0,638 1/1:-1987.35,-229.084,0:765:0:761:23182:0:0,761 1/1:-1809.23,-203.195,0:680:0:675:20993:0:0,675 1/1:-1589.46,-183.026,0:612:0:608:18330:0:0,608 1/1:-1919.5,-218.697,0:744:1:735:22242:32:1,735 chr2 179600648 . C T 10830.52 . AB=0.503923;ABP=3.16365;AC=3;AF=0.5;AN=6;AO=578;CIGAR=1X;DP=3453;DPB=1147;DPRA=0;EPP=10.2836;EPPR=7.591;GTI=0;LEN=1;MEANALT=3;MQM=38.2024;MQMR=38.6369;NS=1;NUMALT=1;ODDS=2425.09;PAIRED=0.972318;PAIREDR=0.959854;PAO=0;PQA=0;PQR=0;PRO=0;QA=17173;QR=16612;RO=548;RPL=283;RPP=3.55129;RPPR=10.0002;RPR=295;RUN=1;SAF=274;SAP=6.39149;SAR=304;SF=0;SRF=258;SRP=7.06794;SRR=290;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.G10793A:p.R3598K,TTN:NM_001256850:exon48:c.G13574A:p.R4525K,TTN:NM_001267550:exon50:c.G14525A:p.R4842K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0974;esp6500siv2_ea=0.0479;esp6500siv2_all=0.0974;esp6500siv2_ea=0.0479;1000g2015aug_all=0.144768;avsnp147=rs2742347;Kaviar_AF=0.0916288;Kaviar_AC=14166;Kaviar_AN=154602;ExAC_ALL=0.0959;ExAC_AFR=0.2159;ExAC_AMR=0.2707;ExAC_EAS=0.2133;ExAC_FIN=0.0575;ExAC_NFE=0.0500;ExAC_OTH=0.0713;ExAC_SAS=0.0433;CLNALLELEID=55751;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.973;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.17;FATHMM_pred=T;PROVEAN_score=-0.11;PROVEAN_pred=N;VEST3_score=0.03;CADD_raw=0.315;CADD_phred=5.839;DANN_score=0.620;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.067;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.76;phyloP7way_vertebrate=-0.435;phyloP20way_mammalian=-0.208;phastCons7way_vertebrate=0.337;phastCons20way_mammalian=0.031;SiPhy_29way_logOdds=9.396;GDI_full_10282015=.;dpsi_max_tissue=0.0686;dpsi_zscore=0.376;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0989;gnomAD_exome_AFR=0.2154;gnomAD_exome_AMR=0.2529;gnomAD_exome_ASJ=0.0725;gnomAD_exome_EAS=0.2089;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0473;gnomAD_exome_OTH=0.0833;gnomAD_exome_SAS=0.0424;gnomAD_genome_ALL=0.1101;gnomAD_genome_AFR=0.2204;gnomAD_genome_AMR=0.2141;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0.1884;gnomAD_genome_FIN=0.0604;gnomAD_genome_NFE=0.0471;gnomAD_genome_OTH=0.0645;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1109.83,0,-1062.96:1147:548:578:17173:16612 . . . . . . . . . . . . . . . . . . . 0/1:-1163.31,0,-1103.99:1197:566:599:17822:16843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1005.19,0,-1064.33:1109:540:546:15915:16347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179602948 . G T 14243.48 . AB=0.481143;ABP=8.4154;AC=2;AF=0.5;AN=4;AO=842;CIGAR=1X;DP=3093;DPB=1750;DPRA=0;EPP=228.967;EPPR=175.932;GTI=0;LEN=1;MEANALT=3;MQM=38.6259;MQMR=39.6125;NS=1;NUMALT=1;ODDS=3327.16;PAIRED=0.958432;PAIREDR=0.952436;PAO=0;PQA=0;PQR=0;PRO=0;QA=23469;QR=25381;RO=862;RPL=534;RPP=134.733;RPPR=131.676;RPR=308;RUN=1;SAF=421;SAP=3.0103;SAR=421;SF=0,1;SRF=432;SRP=3.02038;SRR=430;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon46:c.C13143A:p.D4381E,TTN:NM_133378:exon46:c.C10500A:p.D3500E,TTN:NM_001256850:exon47:c.C13281A:p.D4427E,TTN:NM_133432:exon47:c.C13518A:p.D4506E,TTN:NM_133437:exon47:c.C13719A:p.D4573E,TTN:NM_001267550:exon49:c.C14232A:p.D4744E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000199681;avsnp147=rs55906845;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=55750;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.778;SIFT_pred=T;Polyphen2_HDIV_score=0.061;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.047;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=0.48;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_pred=N;VEST3_score=0.196;CADD_raw=2.639;CADD_phred=20.4;DANN_score=0.944;fathmm-MKL_coding_score=0.917;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.965;MetaSVM_pred=T;MetaLR_score=0.093;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.133;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.769;GDI_full_10282015=.;dpsi_max_tissue=-0.9195;dpsi_zscore=-1.423;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.982e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1489.79,0,-1656.17:1750:862:842:23469:25381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1352.01,0,-1388.51:1343:665:668:20406:20701:665,668 . . . . . . chr2 179603847 . ATT AT 5957.59 . AB=0.455112;ABP=17.0464;AC=1;AF=0.5;AN=2;AO=365;CIGAR=1M1D1M;DP=802;DPB=686.333;DPRA=0;EPP=81.689;EPPR=104.596;GTI=0;LEN=1;MEANALT=9;MQM=39.9452;MQMR=40.1332;NS=1;NUMALT=1;ODDS=1371.79;PAIRED=0.972603;PAIREDR=0.990315;PAO=11.5;PQA=311.5;PQR=55.5;PRO=3.5;QA=9815;QR=12410;RO=413;RPL=100;RPP=164.978;RPPR=228.302;RPR=265;RUN=1;SAF=187;SAP=3.49219;SAR=178;SF=0;SRF=226;SRP=11.0074;SRR=187;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-628.863,0,-829.658:802:413:365:9815:12410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179604101 . C T 8967.82 . AB=0.478632;ABP=6.72222;AC=1;AF=0.5;AN=2;AO=448;CIGAR=1X;DP=936;DPB=936;DPRA=0;EPP=72.8076;EPPR=208.906;GTI=0;LEN=1;MEANALT=3;MQM=38.7321;MQMR=39.8312;NS=1;NUMALT=1;ODDS=2064.92;PAIRED=0.975446;PAIREDR=0.983122;PAO=0;PQA=0;PQR=0;PRO=0;QA=14130;QR=15409;RO=474;RPL=208;RPP=7.97367;RPPR=6.60193;RPR=240;RUN=1;SAF=232;SAP=4.25114;SAR=216;SF=0;SRF=234;SRP=3.17522;SRR=240;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G12770A:p.G4257D,TTN:NM_001256850:exon46:c.G12908A:p.G4303D,TTN:NM_133432:exon46:c.G13145A:p.G4382D,TTN:NM_133437:exon46:c.G13346A:p.G4449D,TTN:NM_001267550:exon48:c.G13859A:p.G4620D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00599042;avsnp147=rs55857742;Kaviar_AF=0.0038033;Kaviar_AC=588;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0018;ExAC_OTH=0.0011;ExAC_SAS=0.0237;CLNALLELEID=57005;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.072;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.315;MutationAssessor_pred=M;FATHMM_score=-1.39;FATHMM_pred=T;PROVEAN_score=-3.02;PROVEAN_pred=D;VEST3_score=0.473;CADD_raw=2.576;CADD_phred=19.95;DANN_score=0.880;fathmm-MKL_coding_score=0.833;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.421;MetaSVM_pred=T;MetaLR_score=0.463;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.11;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.906;phastCons20way_mammalian=0.759;SiPhy_29way_logOdds=12.781;GDI_full_10282015=.;dpsi_max_tissue=0.1065;dpsi_zscore=0.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.811e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0225;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-912.462,0,-1032.94:936:474:448:14130:15409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179604160 . T G 8781.11 . AB=0.523344;ABP=7.36975;AC=2;AF=0.5;AN=4;AO=482;CIGAR=1X;DP=2010;DPB=921;DPRA=0;EPP=99.0416;EPPR=60.6929;GTI=0;LEN=1;MEANALT=3;MQM=37.9917;MQMR=38.0951;NS=1;NUMALT=1;ODDS=1929.31;PAIRED=0.977178;PAIREDR=0.948956;PAO=0;PQA=0;PQR=0;PRO=0;QA=14771;QR=13766;RO=431;RPL=167;RPP=101.691;RPPR=84.2717;RPR=315;RUN=1;SAF=317;SAP=107.097;SAR=165;SF=0;SRF=259;SRP=41.1446;SRR=172;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A12711C:p.L4237F,TTN:NM_001256850:exon46:c.A12849C:p.L4283F,TTN:NM_133432:exon46:c.A13086C:p.L4362F,TTN:NM_133437:exon46:c.A13287C:p.L4429F,TTN:NM_001267550:exon48:c.A13800C:p.L4600F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0338;esp6500siv2_ea=0.0431;esp6500siv2_all=0.0338;esp6500siv2_ea=0.0431;1000g2015aug_all=0.076278;avsnp147=rs1883085;Kaviar_AF=0.0691194;Kaviar_AC=10686;Kaviar_AN=154602;ExAC_ALL=0.0723;ExAC_AFR=0.0104;ExAC_AMR=0.2595;ExAC_EAS=0.2126;ExAC_FIN=0.0573;ExAC_NFE=0.0459;ExAC_OTH=0.0489;ExAC_SAS=0.0190;CLNALLELEID=57004;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.729;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.1;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_pred=N;VEST3_score=0.038;CADD_raw=-1.298;CADD_phred=0.005;DANN_score=0.622;fathmm-MKL_coding_score=0.223;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.053;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-5.34;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=-0.220;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.802;GDI_full_10282015=.;dpsi_max_tissue=-0.0577;dpsi_zscore=-0.299;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0792;gnomAD_exome_AFR=0.0109;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2080;gnomAD_exome_FIN=0.0537;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0705;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0490;gnomAD_genome_AFR=0.0134;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1865;gnomAD_genome_FIN=0.0602;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-955.636,0,-864.205:921:431:482:14771:13766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-866.737,0,-1266.92:1089:616:464:14148:19267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179604366 . T G 9355.97 . AB=0.52429;ABP=8.60119;AC=2;AF=0.5;AN=4;AO=572;CIGAR=1X;DP=1985;DPB=1091;DPRA=0;EPP=59.5141;EPPR=4.90658;GTI=0;LEN=1;MEANALT=3;MQM=38.7867;MQMR=38.699;NS=1;NUMALT=1;ODDS=2199.47;PAIRED=0.984266;PAIREDR=0.954455;PAO=0;PQA=0;PQR=0;PRO=0;QA=17231;QR=15354;RO=505;RPL=294;RPP=3.98215;RPPR=25.9247;RPR=278;RUN=1;SAF=285;SAP=3.02549;SAR=287;SF=0;SRF=247;SRP=3.53059;SRR=258;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A12505C:p.T4169P,TTN:NM_001256850:exon46:c.A12643C:p.T4215P,TTN:NM_133432:exon46:c.A12880C:p.T4294P,TTN:NM_133437:exon46:c.A13081C:p.T4361P,TTN:NM_001267550:exon48:c.A13594C:p.T4532P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0343;esp6500siv2_ea=0.0435;esp6500siv2_all=0.0343;esp6500siv2_ea=0.0435;1000g2015aug_all=0.0760783;avsnp147=rs2562829;Kaviar_AF=0.0690547;Kaviar_AC=10676;Kaviar_AN=154602;ExAC_ALL=0.0723;ExAC_AFR=0.0102;ExAC_AMR=0.2596;ExAC_EAS=0.2127;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0489;ExAC_SAS=0.0190;CLNALLELEID=57002;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_pred=N;VEST3_score=0.19;CADD_raw=-0.781;CADD_phred=0.047;DANN_score=0.623;fathmm-MKL_coding_score=0.247;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.067;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-3.84;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=-1.297;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.031;SiPhy_29way_logOdds=10.651;GDI_full_10282015=.;dpsi_max_tissue=-0.1465;dpsi_zscore=-0.573;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0793;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2079;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0445;gnomAD_exome_OTH=0.0705;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0489;gnomAD_genome_AFR=0.0132;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1860;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0440;gnomAD_genome_OTH=0.0479;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-1127.32,0,-966.625:1091:505:572:17231:15354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-771.158,0,-963.95:894:469:410:12155:14418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179604742 . G A 9267.38 . AB=0.43485;ABP=50.8279;AC=2;AF=0.5;AN=4;AO=564;CIGAR=1X;DP=2502;DPB=1297;DPRA=0;EPP=271.349;EPPR=174.459;GTI=0;LEN=1;MEANALT=3;MQM=38.234;MQMR=38.8731;NS=1;NUMALT=1;ODDS=2109.04;PAIRED=0.98227;PAIREDR=0.959701;PAO=0;PQA=0;PQR=0;PRO=0;QA=15616;QR=19756;RO=670;RPL=298;RPP=6.95283;RPPR=4.06039;RPR=266;RUN=1;SAF=304;SAP=10.4641;SAR=260;SF=0;SRF=354;SRP=7.69031;SRR=316;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C12129T:p.A4043A,TTN:NM_001256850:exon46:c.C12267T:p.A4089A,TTN:NM_133432:exon46:c.C12504T:p.A4168A,TTN:NM_133437:exon46:c.C12705T:p.A4235A,TTN:NM_001267550:exon48:c.C13218T:p.A4406A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0345;esp6500siv2_ea=0.0433;esp6500siv2_all=0.0345;esp6500siv2_ea=0.0433;1000g2015aug_all=0.0766773;avsnp147=rs1883084;Kaviar_AF=0.0696433;Kaviar_AC=10767;Kaviar_AN=154602;ExAC_ALL=0.0725;ExAC_AFR=0.0126;ExAC_AMR=0.2596;ExAC_EAS=0.2123;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0490;ExAC_SAS=0.0190;CLNALLELEID=57000;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0852;dpsi_zscore=0.436;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0794;gnomAD_exome_AFR=0.0134;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2079;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0704;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0498;gnomAD_genome_AFR=0.0163;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1858;gnomAD_genome_FIN=0.0602;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-954.983,0,-1300.99:1297:670:564:15616:19756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-969.086,0,-1066.31:1205:597:557:15628:16766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179605180 . C T,A 13099.32 . AB=0.517437;ABP=6.26663;AC=42,2;AF=0.5;AN=74;AO=638;CIGAR=1X;DP=38725;DPB=1233;DPRA=0;EPP=5.31111;EPPR=28.7578;GTI=0;LEN=1;MEANALT=3;MQM=38.3433;MQMR=39.1308;NS=1;NUMALT=1;ODDS=2590.55;PAIRED=0.965517;PAIREDR=0.969019;PAO=0;PQA=0;PQR=0;PRO=0;QA=18246;QR=17834;RO=581;RPL=176;RPP=281.408;RPPR=130.925;RPR=462;RUN=1;SAF=352;SAP=17.8362;SAR=286;SF=0,1;SRF=326;SRP=21.8509;SRR=255;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G11691A:p.A3897A,TTN:NM_001256850:exon46:c.G11829A:p.A3943A,TTN:NM_133432:exon46:c.G12066A:p.A4022A,TTN:NM_133437:exon46:c.G12267A:p.A4089A,TTN:NM_001267550:exon48:c.G12780A:p.A4260A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1353;esp6500siv2_ea=0.1283;esp6500siv2_all=0.1353;esp6500siv2_ea=0.1283;1000g2015aug_all=0.238818;avsnp147=rs746578;Kaviar_AF=0.158594;Kaviar_AC=24519;Kaviar_AN=154602;ExAC_ALL=0.1646;ExAC_AFR=0.1573;ExAC_AMR=0.1421;ExAC_EAS=0.4573;ExAC_FIN=0.0926;ExAC_NFE=0.1283;ExAC_OTH=0.1513;ExAC_SAS=0.2104;CLNALLELEID=56994;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0489;dpsi_zscore=-0.260;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1630;gnomAD_exome_AFR=0.1612;gnomAD_exome_AMR=0.1426;gnomAD_exome_ASJ=0.1141;gnomAD_exome_EAS=0.4611;gnomAD_exome_FIN=0.0938;gnomAD_exome_NFE=0.1301;gnomAD_exome_OTH=0.1485;gnomAD_exome_SAS=0.2072;gnomAD_genome_ALL=0.1510;gnomAD_genome_AFR=0.1589;gnomAD_genome_AMR=0.1587;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.4577;gnomAD_genome_FIN=0.0805;gnomAD_genome_NFE=0.1324;gnomAD_genome_OTH=0.1319;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G11691T:p.A3897A,TTN:NM_001256850:exon46:c.G11829T:p.A3943A,TTN:NM_133432:exon46:c.G12066T:p.A4022A,TTN:NM_133437:exon46:c.G12267T:p.A4089A,TTN:NM_001267550:exon48:c.G12780T:p.A4260A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0760783;avsnp147=rs746578;Kaviar_AF=0.0669526;Kaviar_AC=10351;Kaviar_AN=154602;ExAC_ALL=0.0720;ExAC_AFR=0.0102;ExAC_AMR=0.2586;ExAC_EAS=0.2122;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0471;ExAC_SAS=0.0190;CLNALLELEID=56995;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0453;dpsi_zscore=-0.244;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0790;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.2417;gnomAD_exome_ASJ=0.0484;gnomAD_exome_EAS=0.2075;gnomAD_exome_FIN=0.0534;gnomAD_exome_NFE=0.0443;gnomAD_exome_OTH=0.0702;gnomAD_exome_SAS=0.0190;gnomAD_genome_ALL=0.0490;gnomAD_genome_AFR=0.0131;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1869;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0481;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . 0/2:-1176.52,.,.,0,.,-1151.18:1233:581:.,638:.,18246:17834 . . . . . . . . . 0/1:-976.598,0,-1121.21,.,.,.:1047:541:485,.:15089,.:16797 0/1:-1058.38,0,-963.685,.,.,.:1047:485:537,.:16218,.:14937 0/1:-842.952,0,-796.592,.,.,.:866:408:437,.:13061,.:12639 . . . . . 1/1:-2016.61,-229.901,0,.,.,.:819:6:808,.:24099,.:172 . . . . . . . 0/1:-1240,0,-1137.67,.,.,.:1221:571:630,.:18966,.:17699 . . . 0/1:-1364.34,0,-1127.05,.,.,.:1269:573:676,.:20590,.:17832 . . . . . 0/1:-1067.24,0,-995.306,.,.,.:1064:493:549,.:16325,.:15254 . 1/1:-1003.59,-112.336,0,.,.,.:408:3:402,.:12142,.:108 . . 0/1:-921.297,0,-949.451,.,.,.:948:467:461,.:14141,.:14436 0/1:-1052.12,0,-975.863,.,.,.:1039:490:536,.:16125,.:15154 . . 0/1:-1032.59,0,-974.039,.,.,.:1035:488:526,.:16090,.:15052 1/1:-1476.36,-165.257,0,.,.,.:580:2:567,.:17439,.:68 . 1/1:-3129.56,-309.659,0,.,.,.:1288:27:1239,.:38006,.:827 0/1:-1201.59,0,-1078.86,.,.,.:1171:542:606,.:18010,.:16647 . . 0/1:-1233.83,0,-1150.79,.,.,.:1237:579:633,.:18915,.:17833 0/1:-860.75,0,-733.522,.,.,.:858:386:448,.:13301,.:11832 . 0/1:-1177.15,0,-993.246,.,.,.:1117:506:583,.:17718,.:15501 . . . 0/1:-742.905,0,-630.213,.,.,.:712:318:376,.:11332,.:10080 0/1:-1387.14,0,-1244.44,.,.,.:1343:621:697,.:21119,.:19502 . 0/1:-773.9,0,-674.615,.,.,.:760:348:395,.:11853,.:10557 . 0/1:-1185.25,0,-1141.17,.,.,.:1178:566:590,.:18042,.:17482 0/1:-607.712,0,-508.019,.,.,.:597:264:311,.:9346,.:8145 0/1:-1111.27,0,-946.575,.,.,.:1076:495:557,.:16843,.:15000 . . . . . . . 0/1:-1314.43,0,-1169.57,.,.,.:1294:604:665,.:20002,.:18529 . 0/1:-1335.92,0,-990.79,.,.,.:1205:508:670,.:19960,.:15878 . . . . . . . . . 0/2:-1051.24,.,.,0,.,-1096.02:1124:549:.,568:.,16381:17085 . 1/1:-2819.11,-291.578,0,.,.,.:1146:21:1102,.:33879,.:619 1/1:-3579.66,-348.655,0,.,.,.:1502:36:1431,.:43420,.:1066 0/1:-930.558,0,-986.719,.,.,.:970:489:463,.:14298,.:15044 . . . . . . 0/1:-1342.22,0,-1242.24,.,.,.:1239:589:632,.:19937,.:18598:589,632 . . . . 0/1:-1244.63,0,-1074.2,.,.,.:1113:515:582,.:18317,.:16381:515,582 . 1/1:-2779.92,-238.695,0,.,.,.:1118:34:1063,.:33573,.:1082:34,1063 . 0/1:-1033.53,0,-819.413,.,.,.:891:405:477,.:15118,.:12553:405,477 . 0/1:-1132.33,0,-1127,.,.,.:1060:516:524,.:16786,.:16614:516,524 . . . 0/1:-1137.61,0,-1101.53,.,.,.:1079:514:552,.:16960,.:16475:514,552 . 0/1:-1229.37,0,-993.246,.,.,.:1071:485:568,.:18011,.:15294:485,568 chr2 179605380 . T A 10346.19 . AB=0.485158;ABP=5.073;AC=2;AF=0.5;AN=4;AO=523;CIGAR=1X;DP=2236;DPB=1078;DPRA=0;EPP=7.53178;EPPR=30.4585;GTI=0;LEN=1;MEANALT=3;MQM=39.325;MQMR=39.1706;NS=1;NUMALT=1;ODDS=2299.64;PAIRED=0.982792;PAIREDR=0.972477;PAO=0;PQA=0;PQR=0;PRO=0;QA=15505;QR=17246;RO=545;RPL=242;RPP=9.32542;RPPR=3.10991;RPR=281;RUN=1;SAF=233;SAP=16.5;SAR=290;SF=0;SRF=206;SRP=73.4895;SRR=339;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A11491T:p.I3831F,TTN:NM_001256850:exon46:c.A11629T:p.I3877F,TTN:NM_133432:exon46:c.A11866T:p.I3956F,TTN:NM_133437:exon46:c.A12067T:p.I4023F,TTN:NM_001267550:exon48:c.A12580T:p.I4194F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0050;esp6500siv2_ea=0.0067;esp6500siv2_all=0.0050;esp6500siv2_ea=0.0067;1000g2015aug_all=0.00299521;avsnp147=rs34618570;Kaviar_AF=0.0052975;Kaviar_AC=819;Kaviar_AN=154602;ExAC_ALL=0.0055;ExAC_AFR=0.0009;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0219;ExAC_NFE=0.0057;ExAC_OTH=0.0078;ExAC_SAS=0.0042;CLNALLELEID=56990;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.145;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.23;FATHMM_pred=T;PROVEAN_score=-1.47;PROVEAN_pred=N;VEST3_score=0.134;CADD_raw=-0.005;CADD_phred=2.540;DANN_score=0.616;fathmm-MKL_coding_score=0.856;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.000;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=2.68;phyloP7way_vertebrate=0.054;phyloP20way_mammalian=-0.330;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.011;SiPhy_29way_logOdds=8.187;GDI_full_10282015=.;dpsi_max_tissue=-0.0918;dpsi_zscore=-0.424;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0064;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0046;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0257;gnomAD_exome_NFE=0.0059;gnomAD_exome_OTH=0.0062;gnomAD_exome_SAS=0.0042;gnomAD_genome_ALL=0.0052;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0235;gnomAD_genome_NFE=0.0044;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-1009.23,0,-1137.76:1078:545:523:15505:17246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1082.77,0,-1171.82:1158:583:566:16921:17956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179605705 . A G 12117.35 . AB=0.485957;ABP=5.6328;AC=2;AF=0.5;AN=4;AO=744;CIGAR=1X;DP=2849;DPB=1531;DPRA=0;EPP=112.856;EPPR=165.42;GTI=0;LEN=1;MEANALT=3;MQM=39.082;MQMR=39.482;NS=1;NUMALT=1;ODDS=3123.01;PAIRED=0.965054;PAIREDR=0.984021;PAO=0;PQA=0;PQR=0;PRO=0;QA=21536;QR=22715;RO=751;RPL=280;RPP=101.824;RPPR=76.1088;RPR=464;RUN=1;SAF=321;SAP=33.3759;SAR=423;SF=0;SRF=321;SRP=37.3635;SRR=430;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.T11166C:p.I3722I,TTN:NM_001256850:exon46:c.T11304C:p.I3768I,TTN:NM_133432:exon46:c.T11541C:p.I3847I,TTN:NM_133437:exon46:c.T11742C:p.I3914I,TTN:NM_001267550:exon48:c.T12255C:p.I4085I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0344;esp6500siv2_ea=0.0437;esp6500siv2_all=0.0344;esp6500siv2_ea=0.0437;1000g2015aug_all=0.0760783;avsnp147=rs2742357;Kaviar_AF=0.0694299;Kaviar_AC=10734;Kaviar_AN=154602;ExAC_ALL=0.0723;ExAC_AFR=0.0102;ExAC_AMR=0.2597;ExAC_EAS=0.2128;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0489;ExAC_SAS=0.0189;CLNALLELEID=56988;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0659;dpsi_zscore=-0.332;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0793;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0484;gnomAD_exome_EAS=0.2082;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0705;gnomAD_exome_SAS=0.0190;gnomAD_genome_ALL=0.0489;gnomAD_genome_AFR=0.0132;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1851;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-1388.71,0,-1480.51:1531:751:744:21536:22715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1093.35,0,-1376.99:1318:679:604:17412:20608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179605725 . T C 10243.34 . AB=0.491482;ABP=3.75015;AC=7;AF=0.5;AN=14;AO=577;CIGAR=1X;DP=8890;DPB=1174;DPRA=0;EPP=9.33655;EPPR=3.10504;GTI=0;LEN=1;MEANALT=3;MQM=38.8458;MQMR=39.4276;NS=1;NUMALT=1;ODDS=2271.41;PAIRED=0.987868;PAIREDR=0.979058;PAO=0;PQA=0;PQR=0;PRO=0;QA=15999;QR=17859;RO=573;RPL=397;RPP=180.224;RPPR=159.178;RPR=180;RUN=1;SAF=216;SAP=82.1354;SAR=361;SF=0;SRF=217;SRP=76.2302;SRR=356;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A11146G:p.I3716V,TTN:NM_001256850:exon46:c.A11284G:p.I3762V,TTN:NM_133432:exon46:c.A11521G:p.I3841V,TTN:NM_133437:exon46:c.A11722G:p.I3908V,TTN:NM_001267550:exon48:c.A12235G:p.I4079V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0185;1000g2015aug_all=0.0161741;avsnp147=rs34070843;Kaviar_AF=0.0176582;Kaviar_AC=2730;Kaviar_AN=154602;ExAC_ALL=0.0179;ExAC_AFR=0.0038;ExAC_AMR=0.0147;ExAC_EAS=0.0001;ExAC_FIN=0.0021;ExAC_NFE=0.0184;ExAC_OTH=0.0233;ExAC_SAS=0.0417;CLNALLELEID=56987;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.665;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.23;FATHMM_pred=T;PROVEAN_score=-0.22;PROVEAN_pred=N;VEST3_score=0.115;CADD_raw=-1.264;CADD_phred=0.005;DANN_score=0.503;fathmm-MKL_coding_score=0.138;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.022;MetaSVM_pred=T;MetaLR_score=0.057;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-1.66;phyloP7way_vertebrate=0.938;phyloP20way_mammalian=0.141;phastCons7way_vertebrate=0.964;phastCons20way_mammalian=0.206;SiPhy_29way_logOdds=5.807;GDI_full_10282015=.;dpsi_max_tissue=0.1385;dpsi_zscore=0.589;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0178;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0165;gnomAD_exome_ASJ=0.0142;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0195;gnomAD_exome_OTH=0.0232;gnomAD_exome_SAS=0.0412;gnomAD_genome_ALL=0.0098;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0161;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-1021.28,0,-1176.16:1174:573:577:15999:17859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1062.72,0,-1234.69:1276:616:625:16868:18896 . . . . . . . 0/1:-1093.41,0,-1551.31:1419:747:643:17479:23207 . . . . 0/1:-724.223,0,-995.696:925:485:423:11542:14975 . . 0/1:-1495.49,0,-1646.35:1728:830:839:23388:25242 . . . . . . . . . . . . . . . 0/1:-1181.2,0,-1416.92:1384:691:664:18452:21548 . . . . . . . . 0/1:-811.297,0,-980.531:984:486:472:12744:14880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179605912 . C T 10926.80 . AB=0.441345;ABP=44.7871;AC=1;AF=0.5;AN=2;AO=617;CIGAR=1X;DP=1398;DPB=1398;DPRA=0;EPP=3.09829;EPPR=8.61559;GTI=0;LEN=1;MEANALT=3;MQM=38.0891;MQMR=39.2613;NS=1;NUMALT=1;ODDS=2515.98;PAIRED=0.970827;PAIREDR=0.950667;PAO=0;PQA=0;PQR=0;PRO=0;QA=18333;QR=22981;RO=750;RPL=224;RPP=103.528;RPPR=90.6683;RPR=393;RUN=1;SAF=329;SAP=8.92642;SAR=288;SF=0;SRF=397;SRP=8.61559;SRR=353;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G10959A:p.M3653I,TTN:NM_001256850:exon46:c.G11097A:p.M3699I,TTN:NM_133432:exon46:c.G11334A:p.M3778I,TTN:NM_133437:exon46:c.G11535A:p.M3845I,TTN:NM_001267550:exon48:c.G12048A:p.M4016I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs528996964;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.815e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.018e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.493;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.18;MutationAssessor_pred=N;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_pred=N;VEST3_score=0.227;CADD_raw=-0.222;CADD_phred=0.988;DANN_score=0.512;fathmm-MKL_coding_score=0.062;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.014;MetaSVM_pred=T;MetaLR_score=0.100;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-1.81;phyloP7way_vertebrate=-1.158;phyloP20way_mammalian=0.023;phastCons7way_vertebrate=0.087;phastCons20way_mammalian=0.206;SiPhy_29way_logOdds=1.354;GDI_full_10282015=.;dpsi_max_tissue=-0.0453;dpsi_zscore=-0.244;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.492e-05;gnomAD_exome_AFR=6.548e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.016e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1114.4,0,-1538.82:1398:750:617:18333:22981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179606538 . G A 6682.15 . AB=0.487768;ABP=3.8603;AC=11;AF=0.5;AN=18;AO=319;CIGAR=1X;DP=4972;DPB=654;DPRA=0;EPP=221.117;EPPR=191.41;GTI=0;LEN=1;MEANALT=3;MQM=40;MQMR=40.1194;NS=1;NUMALT=1;ODDS=1231.51;PAIRED=0.968652;PAIREDR=0.983871;PAO=0;PQA=0;PQR=0;PRO=0;QA=9652;QR=8874;RO=310;RPL=214;RPP=83.8857;RPPR=90.8779;RPR=105;RUN=1;SAF=168;SAP=4.97756;SAR=151;SF=0,1;SRF=182;SRP=23.4362;SRR=128;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C10333T:p.P3445S,TTN:NM_001256850:exon46:c.C10471T:p.P3491S,TTN:NM_133432:exon46:c.C10708T:p.P3570S,TTN:NM_133437:exon46:c.C10909T:p.P3637S,TTN:NM_001267550:exon48:c.C11422T:p.P3808S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1808;esp6500siv2_ea=0.0732;esp6500siv2_all=0.1808;esp6500siv2_ea=0.0732;1000g2015aug_all=0.273163;avsnp147=rs2627037;Kaviar_AF=0.165819;Kaviar_AC=25636;Kaviar_AN=154602;ExAC_ALL=0.1888;ExAC_AFR=0.4371;ExAC_AMR=0.4886;ExAC_EAS=0.2539;ExAC_FIN=0.1214;ExAC_NFE=0.0854;ExAC_OTH=0.1643;ExAC_SAS=0.2252;CLNALLELEID=56971;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.974;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=0.54;FATHMM_pred=T;PROVEAN_score=1.8;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=1.979;CADD_phred=16.08;DANN_score=0.947;fathmm-MKL_coding_score=0.153;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.976;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.202;phastCons7way_vertebrate=0.456;phastCons20way_mammalian=0.459;SiPhy_29way_logOdds=12.404;GDI_full_10282015=.;dpsi_max_tissue=-0.0242;dpsi_zscore=-0.130;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1815;gnomAD_exome_AFR=0.4220;gnomAD_exome_AMR=0.4484;gnomAD_exome_ASJ=0.1041;gnomAD_exome_EAS=0.2331;gnomAD_exome_FIN=0.1107;gnomAD_exome_NFE=0.0740;gnomAD_exome_OTH=0.1500;gnomAD_exome_SAS=0.2127;gnomAD_genome_ALL=0.1922;gnomAD_genome_AFR=0.4170;gnomAD_genome_AMR=0.3897;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.2185;gnomAD_genome_FIN=0.1140;gnomAD_genome_NFE=0.0723;gnomAD_genome_OTH=0.1237;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-641.642,0,-573.165:654:310:319:9652:8874 . . . . . . . . . . . . . . 0/1:-416.905,0,-295.203:388:169:207:6110:4794 . 0/1:-513.753,0,-530.826:555:276:259:7751:8009 . . 0/1:-669.601,0,-670.915:702:342:331:10140:10129 . . . . . . . . . . . . . . . . . . . 1/1:-1182.82,-126.816,0:478:6:465:13804:171 . . . . . . 0/1:-461.727,0,-499.875:510:251:240:7049:7458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-660.682,0,-537.409:633:289:326:9784:8282 . . . . . . . . 0/1:-541.491,0,-494.029:503:240:249:7935:7372:240,249 1/1:-1436.35,-135.744,0:549:10:536:16853:334:10,536 . . . . . . . . . . . . . . . . . . chr2 179610426 . C A 3910.42 . AB=0.446655;ABP=16.6792;AC=1;AF=0.5;AN=2;AO=247;CIGAR=1X;DP=553;DPB=553;DPRA=0;EPP=4.98836;EPPR=13.4623;GTI=0;LEN=1;MEANALT=3;MQM=37.9717;MQMR=38.7067;NS=1;NUMALT=1;ODDS=900.406;PAIRED=0.987854;PAIREDR=0.97;PAO=0;PQA=0;PQR=0;PRO=0;QA=6707;QR=9259;RO=300;RPL=101;RPP=20.8129;RPPR=40.5333;RPR=146;RUN=1;SAF=122;SAP=3.08942;SAR=125;SF=0;SRF=183;SRP=34.5401;SRR=117;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G16701T:p.G5567G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-401.496,0,-611.17:553:300:247:6707:9259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179611711 . C A 5601.95 . AB=0.492604;ABP=3.33152;AC=2;AF=0.5;AN=4;AO=333;CIGAR=1X;DP=1372;DPB=676;DPRA=0;EPP=118.359;EPPR=81.6774;GTI=0;LEN=1;MEANALT=3;MQM=36.9429;MQMR=38.1257;NS=1;NUMALT=1;ODDS=1302.5;PAIRED=0.903904;PAIREDR=0.859281;PAO=0;PQA=0;PQR=0;PRO=0;QA=9519;QR=9646;RO=334;RPL=164;RPP=3.17332;RPPR=3.11432;RPR=169;RUN=1;SAF=124;SAP=50.1241;SAR=209;SF=0;SRF=113;SRP=78.8428;SRR=221;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G15416T:p.R5139M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0332;esp6500siv2_ea=0.0433;esp6500siv2_all=0.0332;esp6500siv2_ea=0.0433;1000g2015aug_all=0.0772764;avsnp147=rs66677602;Kaviar_AF=0.0696757;Kaviar_AC=10772;Kaviar_AN=154602;ExAC_ALL=0.0727;ExAC_AFR=0.0104;ExAC_AMR=0.2599;ExAC_EAS=0.2222;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0496;ExAC_SAS=0.0190;CLNALLELEID=56950;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.847;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-0.55;FATHMM_pred=T;PROVEAN_score=1.14;PROVEAN_pred=N;VEST3_score=0.091;CADD_raw=0.758;CADD_phred=9.203;DANN_score=0.953;fathmm-MKL_coding_score=0.178;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.047;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.19;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.067;phastCons7way_vertebrate=0.930;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=9.092;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0799;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.2422;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2178;gnomAD_exome_FIN=0.0537;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0705;gnomAD_exome_SAS=0.0192;gnomAD_genome_ALL=0.0495;gnomAD_genome_AFR=0.0131;gnomAD_genome_AMR=0.2010;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1986;gnomAD_genome_FIN=0.0599;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0479;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-589.848,0,-606.202:676:334:333:9519:9646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-584.503,0,-653.66:696:355:338:9511:10295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179611847 . TCTCC GCTCT 348.06 . AB=0.444444;ABP=4.9405;AC=1;AF=0.5;AN=2;AO=32;CIGAR=1X3M1X;DP=72;DPB=77.6;DPRA=0;EPP=72.4974;EPPR=61.6401;GTI=0;LEN=5;MEANALT=9;MQM=31.3438;MQMR=28.7037;NS=1;NUMALT=1;ODDS=78.0263;PAIRED=0.96875;PAIREDR=1;PAO=5;PQA=134;PQR=160;PRO=5;QA=982;QR=876;RO=27;RPL=31;RPP=64.083;RPPR=32.0437;RPR=1;RUN=1;SAF=1;SAP=64.083;SAR=31;SF=0;SRF=4;SRP=32.0437;SRR=23;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=TTN:NM_133379:exon46:c.15276_15280AGAGC;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-63.7707,0,-52.8572:72:27:32:982:876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179612373 . A C 8162.18 . AB=0.493873;ABP=3.27641;AC=1;AF=0.5;AN=2;AO=403;CIGAR=1X;DP=816;DPB=816;DPRA=0;EPP=3.01569;EPPR=4.72629;GTI=0;LEN=1;MEANALT=3;MQM=40.469;MQMR=40.6244;NS=1;NUMALT=1;ODDS=1879.41;PAIRED=0.977667;PAIREDR=0.973171;PAO=0;PQA=0;PQR=0;PRO=0;QA=12391;QR=13173;RO=410;RPL=255;RPP=64.7006;RPPR=44.0246;RPR=148;RUN=1;SAF=221;SAP=11.2059;SAR=182;SF=1;SRF=239;SRP=27.5003;SRR=171;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14754G:p.P4918P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0037;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0037;1000g2015aug_all=0.00579073;avsnp147=rs72648908;Kaviar_AF=0.0049353;Kaviar_AC=763;Kaviar_AN=154602;ExAC_ALL=0.0053;ExAC_AFR=0.0010;ExAC_AMR=0.0024;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0032;ExAC_OTH=0.0110;ExAC_SAS=0.0233;CLNALLELEID=56940;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0052;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0097;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=4.495e-05;gnomAD_exome_NFE=0.0032;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0231;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-831.035,0,-890.811:816:410:403:12391:13173:410,403 . . . . . . . . . . . . . . . . . . chr2 179612383 . C T 10677.72 . AB=0.479381;ABP=10.8903;AC=6;AF=0.5;AN=12;AO=1023;CIGAR=1X;DP=6908;DPB=2134;DPRA=0;EPP=29.1635;EPPR=27.0275;GTI=0;LEN=1;MEANALT=3;MQM=39.5885;MQMR=39.9314;NS=1;NUMALT=1;ODDS=4602.57;PAIRED=0.961877;PAIREDR=0.964351;PAO=0;PQA=0;PQR=0;PRO=0;QA=31612;QR=32589;RO=1094;RPL=747;RPP=473.901;RPPR=531.5;RPR=276;RUN=1;SAF=620;SAP=102.964;SAR=403;SF=0,1;SRF=651;SRP=88.8847;SRR=443;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G14744A:p.R4915H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0424;esp6500siv2_ea=0.0582;esp6500siv2_all=0.0424;esp6500siv2_ea=0.0582;1000g2015aug_all=0.0145767;avsnp147=rs72648907;Kaviar_AF=0.0379943;Kaviar_AC=5874;Kaviar_AN=154602;ExAC_ALL=0.0359;ExAC_AFR=0.0111;ExAC_AMR=0.0172;ExAC_EAS=0;ExAC_FIN=0.0352;ExAC_NFE=0.0561;ExAC_OTH=0.0364;ExAC_SAS=0.0020;CLNALLELEID=56939;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.422;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-1.245;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-0.1;PROVEAN_pred=N;VEST3_score=0.007;CADD_raw=1.322;CADD_phred=12.38;DANN_score=0.625;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=1.79;phyloP7way_vertebrate=0.021;phyloP20way_mammalian=-0.239;phastCons7way_vertebrate=0.800;phastCons20way_mammalian=0.011;SiPhy_29way_logOdds=6.346;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0352;gnomAD_exome_AFR=0.0107;gnomAD_exome_AMR=0.0211;gnomAD_exome_ASJ=0.0257;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0373;gnomAD_exome_NFE=0.0580;gnomAD_exome_OTH=0.0351;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0339;gnomAD_genome_AFR=0.0109;gnomAD_genome_AMR=0.0276;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0404;gnomAD_genome_NFE=0.0492;gnomAD_genome_OTH=0.0459;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-2069.5,0,-2153.93:2134:1094:1023:31612:32589 . . . . . . . . . . . . . . . . . . 0/1:-425.799,0,-422.917:454:225:224:6654:6723 . 0/1:-978.78,0,-1224.93:1160:630:518:15879:18420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1167.9,0,-1041.38:1127:540:571:17684:16226 . . . . . . . . . 0/1:-1202.6,0,-1257.17:1270:647:612:18722:19269 . . . . . . . . . . . . . . . . . . . . . 0/1:-815.399,0,-780.164:763:385:374:12024:11613:385,374 . . . . . . . . . . . chr2 179612635 . C T 8753.10 . AB=0.435784;ABP=43.4489;AC=1;AF=0.5;AN=2;AO=492;CIGAR=1X;DP=1129;DPB=1129;DPRA=0;EPP=172.562;EPPR=59.2281;GTI=0;LEN=1;MEANALT=3;MQM=38.1951;MQMR=40.1316;NS=1;NUMALT=1;ODDS=2015.48;PAIRED=0.963415;PAIREDR=0.969502;PAO=0;PQA=0;PQR=0;PRO=0;QA=15345;QR=19669;RO=623;RPL=297;RPP=48.929;RPPR=19.6048;RPR=195;RUN=1;SAF=101;SAP=374.191;SAR=391;SF=0;SRF=159;SRP=327.25;SRR=464;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G14492A:p.C4831Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00599042;avsnp147=rs150615457;Kaviar_AF=0.004075;Kaviar_AC=630;Kaviar_AN=154602;ExAC_ALL=0.0048;ExAC_AFR=0.0002;ExAC_AMR=0.0013;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0024;ExAC_OTH=0.0022;ExAC_SAS=0.0236;CLNALLELEID=56937;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.164;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=0.49;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_pred=N;VEST3_score=0.085;CADD_raw=0.214;CADD_phred=4.824;DANN_score=0.470;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.040;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_pred=T;integrated_fitCons_score=0.560;integrated_confidence_value=0;GERP++_RS=-0.046;phyloP7way_vertebrate=-0.236;phyloP20way_mammalian=-0.506;phastCons7way_vertebrate=0.790;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=4.639;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516257#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0084;gnomAD_exome_EAS=5.823e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0225;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-948.169,0,-1355.4:1129:623:492:15345:19669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179612913 . G A 3782.34 . AB=0.462585;ABP=8.37251;AC=2;AF=0.5;AN=4;AO=204;CIGAR=1X;DP=900;DPB=441;DPRA=0;EPP=5.73528;EPPR=30.3035;GTI=0;LEN=1;MEANALT=2;MQM=38.7549;MQMR=39.5647;NS=1;NUMALT=1;ODDS=848.413;PAIRED=0.970588;PAIREDR=0.982759;PAO=0;PQA=0;PQR=0;PRO=0;QA=6056;QR=7273;RO=232;RPL=117;RPP=12.5903;RPPR=72.2353;RPR=87;RUN=1;SAF=89;SAP=10.206;SAR=115;SF=0,1;SRF=80;SRP=51.5315;SRR=152;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C14214T:p.T4738T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;1000g2015aug_all=0.000199681;avsnp147=rs147513899;Kaviar_AF=0.0011255;Kaviar_AC=174;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0003;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0020;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=173420;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0071;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:-377.975,0,-488.671:441:232:204:6056:7273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-448.169,0,-515.755:459:237:213:6735:7613:237,213 . . . . . . . . . . chr2 179613179 . G A 5515.70 . AB=0.487352;ABP=3.83421;AC=1;AF=0.5;AN=2;AO=289;CIGAR=1X;DP=593;DPB=593;DPRA=0;EPP=6.98507;EPPR=23.6871;GTI=0;LEN=1;MEANALT=3;MQM=39.0069;MQMR=39.3051;NS=1;NUMALT=1;ODDS=1270.04;PAIRED=0.975779;PAIREDR=0.952542;PAO=0;PQA=0;PQR=0;PRO=0;QA=8659;QR=9372;RO=295;RPL=105;RPP=49.9036;RPPR=129.331;RPR=184;RUN=1;SAF=160;SAP=10.231;SAR=129;SF=0;SRF=170;SRP=17.9162;SRR=125;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C13948T:p.P4650S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0043;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0043;1000g2015aug_all=0.00119808;avsnp147=rs149748934;Kaviar_AF=0.0021022;Kaviar_AC=325;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0008;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0032;ExAC_OTH=0.0011;ExAC_SAS=0.0001;CLNALLELEID=56929;CLNDN=Distal_myopathy_Markesbery-Griggs_type|not_specified|not_provided;CLNDISDB=MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=0.48;FATHMM_pred=T;PROVEAN_score=0.74;PROVEAN_pred=N;VEST3_score=0.036;CADD_raw=0.117;CADD_phred=3.791;DANN_score=0.338;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.023;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-4.24;phyloP7way_vertebrate=-0.290;phyloP20way_mammalian=-0.531;phastCons7way_vertebrate=0.015;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=6.456;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=9.755e-05;gnomAD_genome_ALL=0.0027;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0045;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-564.901,0,-611.663:593:295:289:8659:9372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179613191 . T C 6670.25 . AB=0.485656;ABP=3.88245;AC=5;AF=0.5;AN=8;AO=237;CIGAR=1X;DP=2206;DPB=488;DPRA=0;EPP=28.7473;EPPR=13.3831;GTI=0;LEN=1;MEANALT=3;MQM=38.4473;MQMR=39.7645;NS=1;NUMALT=1;ODDS=1017.12;PAIRED=0.953586;PAIREDR=0.954545;PAO=0;PQA=0;PQR=0;PRO=0;QA=7108;QR=7542;RO=242;RPL=93;RPP=26.8415;RPPR=46.9781;RPR=144;RUN=1;SAF=122;SAP=3.45925;SAR=115;SF=0;SRF=128;SRP=4.76901;SRR=114;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A13936G:p.K4646E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0093;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0093;1000g2015aug_all=0.00259585;avsnp147=rs140909116;Kaviar_AF=0.0076196;Kaviar_AC=1178;Kaviar_AN=154602;ExAC_ALL=0.0082;ExAC_AFR=0.0013;ExAC_AMR=0.0049;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0107;ExAC_OTH=0.0122;ExAC_SAS=0.0111;CLNALLELEID=56928;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.17;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.161;CADD_raw=0.041;CADD_phred=2.993;DANN_score=0.553;fathmm-MKL_coding_score=0.066;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.008;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-2.52;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=-0.303;phastCons7way_vertebrate=0.024;phastCons20way_mammalian=0.008;SiPhy_29way_logOdds=6.312;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0401;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0030;gnomAD_exome_NFE=0.0085;gnomAD_exome_OTH=0.0116;gnomAD_exome_SAS=0.0116;gnomAD_genome_ALL=0.0046;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0068;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-454.058,0,-495.391:488:242:237:7108:7542 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-544.686,0,-499.258:512:235:271:8086:7547 . . . . . . . . . . . . . . . . . 1/1:-1040.05,-96.3521,0:458:14:429:12749:430 . . . . . . . . 0/1:-677.838,0,-799.286:748:392:345:10605:11911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179613651 . G A 6009.70 . AB=0.478261;ABP=5.65383;AC=8;AF=0.5;AN=16;AO=308;CIGAR=1X;DP=5161;DPB=644;DPRA=0;EPP=37.5565;EPPR=70.4473;GTI=0;LEN=1;MEANALT=3;MQM=40.2922;MQMR=40.6646;NS=1;NUMALT=1;ODDS=1307.33;PAIRED=0.993506;PAIREDR=0.996894;PAO=0;PQA=0;PQR=0;PRO=0;QA=8860;QR=9212;RO=322;RPL=132;RPP=16.6596;RPPR=21.2453;RPR=176;RUN=1;SAF=149;SAP=3.71532;SAR=159;SF=0,1;SRF=136;SRP=19.8696;SRR=186;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C13476T:p.D4492D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0260;esp6500siv2_ea=0.0356;esp6500siv2_all=0.0260;esp6500siv2_ea=0.0356;1000g2015aug_all=0.0109824;avsnp147=rs72648904;Kaviar_AF=0.0222248;Kaviar_AC=3436;Kaviar_AN=154602;ExAC_ALL=0.0212;ExAC_AFR=0.0061;ExAC_AMR=0.0158;ExAC_EAS=0;ExAC_FIN=0.0311;ExAC_NFE=0.0288;ExAC_OTH=0.0310;ExAC_SAS=0.0104;CLNALLELEID=56920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0231;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0161;gnomAD_exome_ASJ=0.0088;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0364;gnomAD_exome_NFE=0.0331;gnomAD_exome_OTH=0.0250;gnomAD_exome_SAS=0.0104;gnomAD_genome_ALL=0.0205;gnomAD_genome_AFR=0.0070;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0321;gnomAD_genome_NFE=0.0291;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-580.267,0,-616.104:644:322:308:8860:9212 . . . . . . . . 0/1:-508.513,0,-560.298:579:287:274:7967:8458 . . . . . . . . . . . . . . . . . . 0/1:-660.006,0,-724.542:723:376:338:10046:10937 . . . . 0/1:-846.459,0,-753.939:843:385:435:12601:11453 . . . . . 0/1:-439.895,0,-614.637:544:298:234:6891:8909 . . . . . . . . . 0/1:-645.454,0,-548.119:626:293:317:9589:8519 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-584.779,0,-595.578:616:298:302:8826:8991 . . . . . . . . . . . . . . . . . . . . . . 0/1:-634.218,0,-640.833:586:291:291:9292:9363:291,291 . . . . . . . . . chr2 179614253 . C A 3947.01 . AB=0.455882;ABP=11.0575;AC=1;AF=0.5;AN=2;AO=217;CIGAR=1X;DP=476;DPB=476;DPRA=0;EPP=31.1194;EPPR=20.6699;GTI=0;LEN=1;MEANALT=3;MQM=38.5023;MQMR=38.7871;NS=1;NUMALT=1;ODDS=908.833;PAIRED=0.97235;PAIREDR=0.967871;PAO=0;PQA=0;PQR=0;PRO=0;QA=6448;QR=7208;RO=249;RPL=105;RPP=3.50063;RPPR=5.5306;RPR=112;RUN=1;SAF=126;SAP=15.2686;SAR=91;SF=0;SRF=127;SRP=3.22832;SRR=122;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G12874T:p.G4292C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.634;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.35;FATHMM_pred=T;PROVEAN_score=-0.61;PROVEAN_pred=N;VEST3_score=0.222;CADD_raw=-0.029;CADD_phred=2.316;DANN_score=0.974;fathmm-MKL_coding_score=0.102;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.976;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.21;phyloP7way_vertebrate=-0.514;phyloP20way_mammalian=-0.308;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.095;SiPhy_29way_logOdds=9.574;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.082e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.993e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-406.511,0,-469.652:476:249:217:6448:7208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179614952 . A G 19252.31 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=731;CIGAR=1X;DP=87148;DPB=743;DPRA=0;EPP=62.0678;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=38.5609;MQMR=0;NS=1;NUMALT=1;ODDS=1016.38;PAIRED=0.961696;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=22324;QR=0;RO=0;RPL=313;RPP=35.7606;RPPR=0;RPR=418;RUN=1;SAF=339;SAP=11.3546;SAR=392;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T12175C:p.L4059L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;1000g2015aug_all=0.97504;avsnp147=rs10803917;Kaviar_AF=0.979502;Kaviar_AC=151433;Kaviar_AN=154602;ExAC_ALL=0.9926;ExAC_AFR=0.9200;ExAC_AMR=0.9970;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9912;ExAC_SAS=0.9998;CLNALLELEID=56907;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9945;gnomAD_exome_AFR=0.9208;gnomAD_exome_AMR=0.9971;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9965;gnomAD_exome_SAS=0.9998;gnomAD_genome_ALL=0.9759;gnomAD_genome_AFR=0.9159;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1891.94,-220.053,0:743:0:731:22324:0 1/1:-2421.84,-280.861,0:947:0:933:28698:0 1/1:-2141.88,-243.533,0:821:0:809:25071:0 1/1:-1420.46,-164.663,0:554:0:547:16754:0 1/1:-2005.99,-235.219,0:815:3:796:23977:60 1/1:-2402.8,-280.505,0:957:1:935:28560:14 1/1:-1731.73,-198.379,0:675:0:659:20381:0 1/1:-2194.73,-260.051,0:880:1:865:25902:14 1/1:-1692.35,-192.659,0:653:0:640:19923:0 1/1:-2406.66,-275.435,0:950:2:934:28750:72 1/1:-1786.21,-210.42,0:719:0:699:21075:0 1/1:-1810.54,-207.845,0:709:2:695:21360:41 1/1:-1868.42,-220.354,0:743:0:732:22263:0 1/1:-1685.02,-198.926,0:686:1:664:19800:14 1/1:-1521.75,-178.773,0:609:1:595:18025:14 1/1:-2773.8,-322.693,0:1098:1:1075:32669:14 1/1:-1487.02,-176.348,0:607:1:589:17684:14 1/1:-3734.31,-433.977,0:1467:2:1448:44059:28 1/1:-1930.51,-226.977,0:776:0:754:22937:0 1/1:-1539.82,-179.658,0:617:1:600:18099:14 1/1:-1468.28,-171.888,0:578:0:571:17148:0 1/1:-2517.5,-294.407,0:989:0:978:29630:0 1/1:-1352.43,-157.138,0:533:0:522:16035:0 1/1:-2409.37,-278.903,0:956:1:936:28273:36 1/1:-2298.01,-267.906,0:905:1:893:27191:14 1/1:-1582.02,-182.869,0:632:1:617:18616:36 1/1:-1852.03,-216.492,0:741:1:719:21897:14 1/1:-2300.88,-267.584,0:897:1:890:27047:14 1/1:-1467.37,-173.081,0:594:1:578:17487:14 1/1:-1442.87,-163.158,0:549:0:542:16864:0 1/1:-1850.22,-217.043,0:730:0:721:21694:0 1/1:-2509.62,-292.434,0:1003:4:982:29616:56 1/1:-2158.21,-251.34,0:854:1:838:25605:14 1/1:-415.922,-43.7551,0:164:2:158:4884:50 1/1:-2161.06,-252.513,0:863:2:843:25533:28 1/1:-2249.98,-255.876,0:863:0:850:26430:0 1/1:-631.754,-73.7524,0:253:0:245:7370:0 1/1:-2140.78,-245.64,0:835:0:816:25071:0 1/1:-1798.48,-212.816,0:722:1:710:21254:14 1/1:-642.531,-74.0534,0:254:0:246:7610:0 1/1:-2623.11,-300.708,0:1022:1:1002:30837:14 1/1:-1623.97,-188.248,0:655:2:637:19202:46 1/1:-1894.32,-218.793,0:744:1:730:22209:14 1/1:-2123.32,-248.295,0:848:1:828:25065:14 1/1:-2626.26,-304.341,0:1025:0:1011:30821:0 1/1:-2024.43,-231.742,0:783:1:773:23609:14 1/1:-1896.57,-220.655,0:741:0:733:22349:0 1/1:-1116.37,-126.979,0:437:1:425:13187:14 1/1:-1550.61,-178.21,0:599:0:592:18244:0 1/1:-2519.63,-291.096,0:988:0:967:29674:0 1/1:-2082.82,-238.679,0:809:2:799:24553:28 1/1:-1967.51,-234.491,0:799:1:782:23499:14 1/1:-2676.75,-310.663,0:1042:0:1032:31373:0 1/1:-1945.57,-223.354,0:756:1:745:22776:14 1/1:-1430.73,-171.233,0:585:1:572:17199:14 1/1:-1625.27,-188.746,0:633:0:627:19136:0 1/1:-2114.86,-246.187,0:840:1:821:24928:14 1/1:-1189.88,-138.045,0:486:2:471:14138:50 1/1:-1529.64,-180.317,0:613:0:599:18221:0 1/1:-1767.07,-205.001,0:689:0:681:20736:0 1/1:-1405.32,-164.362,0:555:0:546:16634:0 1/1:-2537.81,-294.708,0:993:0:979:29667:0 1/1:-1604.68,-184.23,0:622:0:612:18856:0 1/1:-1473.75,-173.963,0:601:2:584:17691:28 1/1:-2658.34,-309.158,0:1050:0:1027:31345:0 1/1:-2177.12,-248.897,0:844:1:830:25571:14 1/1:-1088.38,-128.447,0:442:2:431:12881:28 1/1:-2164.13,-246.904,0:844:2:827:25640:41 1/1:-1321.34,-154.973,0:527:1:518:15568:14 1/1:-2160.17,-245.028,0:837:1:817:25310:14 1/1:-1894.26,-220.354,0:753:0:732:22292:0 1/1:-2340.16,-270.325,0:912:0:898:27546:0 1/1:-2283.38,-266.673,0:904:1:887:26581:14 1/1:-1173.84,-149.279,0:518:2:502:14240:28 1/1:-1854.57,-216.441,0:726:0:719:21663:0 1/1:-1982.65,-228.461,0:781:1:762:23345:14 1/1:-2054.38,-237.513,0:804:0:789:24242:0 1/1:-2366.95,-279.034,0:947:1:930:28079:14 1/1:-1268,-149.311,0:506:0:496:14927:0 1/1:-1132.6,-131.795,0:445:1:441:13340:14 1/1:-2125.52,-252.509,0:857:1:842:25276:14 1/1:-2168.18,-254.671,0:868:0:846:25693:0 1/1:-2345.78,-268.367,0:916:3:899:27580:42 1/1:-1681.32,-196.874,0:663:0:654:19839:0 1/1:-1377.69,-161.051,0:556:0:535:16306:0 1/1:-1673.17,-194.692,0:666:2:653:19607:28 1/1:-1663.2,-191.434,0:648:1:639:19535:14 1/1:-2102.9,-248.33,0:845:1:828:25008:14 1/1:-1144.62,-131.55,0:449:0:437:13507:0 1/1:-2140.51,-240.614,0:829:2:812:24998:50 1/1:-2913.6,-335.126,0:1149:3:1121:34424:55 1/1:-1624.3,-186.639,0:630:0:620:19128:0 1/1:-2334,-264.298,0:919:3:899:27314:82 1/1:-1923.86,-221.502,0:752:1:739:22622:14 1/1:-2293.33,-268.009,0:922:2:901:27131:57 . 1/1:-2257.77,-244.135,0:822:0:811:25921:0:0,811 1/1:-2313.51,-254.069,0:857:0:844:26897:0:0,844 1/1:-2595.81,-280.259,0:945:0:931:30089:0:0,931 1/1:-1257.85,-138.153,0:468:1:462:14547:14:1,462 1/1:-2006.41,-223.063,0:757:0:741:23342:0:0,741 1/1:-2531.55,-279.657,0:945:0:929:29505:0:0,929 1/1:-2108.97,-229.633,0:777:1:766:24407:14:1,766 1/1:-2382.2,-262.799,0:885:0:873:27875:0:0,873 1/1:-2095.31,-228.181,0:772:0:758:24171:0:0,758 1/1:-1830.39,-197.669,0:674:2:663:21282:28:2,663 1/1:-2268.59,-244.135,0:822:0:811:26249:0:0,811 1/1:-1913.62,-207.991,0:702:1:694:22217:14:1,694 1/1:-1943.8,-213.129,0:717:0:708:22596:0:0,708 1/1:-2090.06,-227.88,0:767:0:757:24144:0:0,757 1/1:-2628.79,-288.989,0:975:0:960:30797:0:0,960 1/1:-2124.05,-231.191,0:778:0:768:24703:0:0,768 1/1:-2085.64,-225.342,0:767:1:757:24250:32:1,757 1/1:-2100.55,-231.492,0:781:0:769:24332:0:0,769 1/1:-2254.1,-241.282,0:823:1:810:25966:32:1,810 1/1:-2165.34,-234.75,0:799:1:783:25082:14:1,783 chr2 179615278 . A G 5057.08 . AB=0.469919;ABP=7.84403;AC=1;AF=0.5;AN=2;AO=289;CIGAR=1X;DP=615;DPB=615;DPRA=0;EPP=128.047;EPPR=98.0907;GTI=0;LEN=1;MEANALT=3;MQM=38.9516;MQMR=40.4748;NS=1;NUMALT=1;ODDS=1164.44;PAIRED=0.99308;PAIREDR=0.981132;PAO=0;PQA=0;PQR=0;PRO=0;QA=8386;QR=9956;RO=318;RPL=174;RPP=29.1656;RPPR=34.5854;RPR=115;RUN=1;SAF=186;SAP=54.7725;SAR=103;SF=0;SRF=231;SRP=144.607;SRR=87;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T11849C:p.I3950T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0030;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0030;1000g2015aug_all=0.000399361;avsnp147=rs72647897;Kaviar_AF=0.00174;Kaviar_AC=269;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0.0006;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0024;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=56905;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.96;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.599;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.915;MutationAssessor_pred=M;FATHMM_score=0.98;FATHMM_pred=T;PROVEAN_score=-1.11;PROVEAN_pred=N;VEST3_score=0.302;CADD_raw=1.829;CADD_phred=15.16;DANN_score=0.998;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.930;MetaSVM_pred=T;MetaLR_score=0.157;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.984;SiPhy_29way_logOdds=15.984;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-534.249,0,-677.015:615:318:289:8386:9956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179615321 . G A 10531.20 . AB=0.480263;ABP=7.12467;AC=1;AF=0.5;AN=2;AO=584;CIGAR=1X;DP=1216;DPB=1216;DPRA=0;EPP=126.174;EPPR=133.517;GTI=0;LEN=1;MEANALT=3;MQM=40.5394;MQMR=40.3213;NS=1;NUMALT=1;ODDS=2421.64;PAIRED=0.984589;PAIREDR=0.983526;PAO=0;PQA=0;PQR=0;PRO=0;QA=16690;QR=16800;RO=607;RPL=344;RPP=43.2272;RPPR=40.9628;RPR=240;RUN=1;SAF=399;SAP=173.292;SAR=185;SF=0;SRF=433;SRP=242.985;SRR=174;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_133379:exon46:c.C11806T:p.R3936X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs147087155;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.396e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=1.543e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=0.587;CADD_phred=8.068;DANN_score=0.982;fathmm-MKL_coding_score=0.865;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.047;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=12.730;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.522e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=6.003e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.106e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=6.488e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1095.24,0,-1101.71:1216:607:584:16690:16800 . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179615811 . A T 6069.27 . AB=0.485994;ABP=4.22681;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=714;DPB=714;DPRA=0;EPP=16.8339;EPPR=6.50407;GTI=0;LEN=1;MEANALT=3;MQM=39.2997;MQMR=39.6117;NS=1;NUMALT=1;ODDS=1397.5;PAIRED=0.988473;PAIREDR=0.994413;PAO=0;PQA=0;PQR=0;PRO=0;QA=9809;QR=11661;RO=358;RPL=175;RPP=3.06662;RPPR=18.1742;RPR=172;RUN=1;SAF=99;SAP=141.941;SAR=248;SF=0;SRF=113;SRP=108.697;SRR=245;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T11316A:p.N3772K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.113;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_pred=N;VEST3_score=0.005;CADD_raw=-0.078;CADD_phred=1.902;DANN_score=0.947;fathmm-MKL_coding_score=0.018;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.999;MetaSVM_pred=T;MetaLR_score=0.057;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=-4.38;phyloP7way_vertebrate=0.722;phyloP20way_mammalian=-0.180;phastCons7way_vertebrate=0.039;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=3.897;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-630.292,0,-775.583:714:358:347:9809:11661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179615887 . T C 10889.61 . AB=0;ABP=0;AC=220;AF=1;AN=228;AO=499;CIGAR=1X;DP=52320;DPB=511;DPRA=0;EPP=223.312;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=39.1383;MQMR=27.6667;NS=1;NUMALT=1;ODDS=676.107;PAIRED=0.995992;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=15394;QR=60;RO=3;RPL=282;RPP=21.396;RPPR=9.52472;RPR=217;RUN=1;SAF=206;SAP=35.9479;SAR=293;SF=0,1;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11240G:p.D3747G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.8181;esp6500siv2_ea=0.9303;esp6500siv2_all=0.8181;esp6500siv2_ea=0.9303;1000g2015aug_all=0.733027;avsnp147=rs922984;Kaviar_AF=0.828586;Kaviar_AC=128101;Kaviar_AN=154602;ExAC_ALL=0.8271;ExAC_AFR=0.6001;ExAC_AMR=0.5361;ExAC_EAS=0.7529;ExAC_FIN=0.8854;ExAC_NFE=0.9251;ExAC_OTH=0.8473;ExAC_SAS=0.7889;CLNALLELEID=56900;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.197;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.36;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_pred=N;VEST3_score=0.012;CADD_raw=0.654;CADD_phred=8.526;DANN_score=0.992;fathmm-MKL_coding_score=0.145;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.941;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.54;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.307;phastCons20way_mammalian=0.091;SiPhy_29way_logOdds=5.885;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8208;gnomAD_exome_AFR=0.6002;gnomAD_exome_AMR=0.5556;gnomAD_exome_ASJ=0.8914;gnomAD_exome_EAS=0.7553;gnomAD_exome_FIN=0.8909;gnomAD_exome_NFE=0.9291;gnomAD_exome_OTH=0.8518;gnomAD_exome_SAS=0.7887;gnomAD_genome_ALL=0.8154;gnomAD_genome_AFR=0.6059;gnomAD_genome_AMR=0.6139;gnomAD_genome_ASJ=0.9007;gnomAD_genome_EAS=0.7732;gnomAD_genome_FIN=0.8874;gnomAD_genome_NFE=0.9301;gnomAD_genome_OTH=0.8822;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1304.13,-146.778,0:511:3:499:15394:60 0/1:-583.866,0,-669.307:607:303:294:8917:9953 1/1:-1496.82,-173.039,0:592:1:578:17626:14 1/1:-933.689,-104.402,0:357:1:350:10923:14 1/1:-1235.18,-142.332,0:495:1:476:14621:14 1/1:-1457.93,-162.189,0:561:2:545:17242:28 1/1:-1394.49,-158.944,0:544:0:528:16404:0 1/1:-1335.61,-153.772,0:530:1:514:15649:14 1/1:-1089.47,-122.163,0:419:1:409:12902:14 1/1:-1494.81,-171.532,0:591:1:573:17697:14 1/1:-1255.14,-142.526,0:503:3:483:15051:42 1/1:-1358.07,-152.259,0:532:2:516:15983:41 1/1:-1166.24,-133.356,0:454:0:443:13570:0 1/1:-1023.77,-119.208,0:409:0:396:12210:0 1/1:-1197.24,-133.302,0:464:1:446:13838:14 1/1:-1676,-184.765,0:654:5:639:19833:114 0/1:-433.109,0,-406.809:415:197:208:6599:6357 1/1:-2362.79,-261.017,0:922:4:886:27723:78 0/1:-477.469,0,-605.477:515:267:239:7401:8859 1/1:-877.964,-100.985,0:360:3:348:10383:86 1/1:-942.153,-112.275,0:390:1:376:11244:14 0/1:-628.727,0,-722.309:655:330:313:9736:10732 1/1:-860.895,-97.8348,0:333:0:325:10232:0 1/1:-1519.29,-168.823,0:574:1:564:17810:14 1/1:-1444.14,-163.73,0:575:2:550:16924:28 1/1:-883.66,-103.618,0:383:5:360:10653:70 1/1:-1243.98,-143.29,0:487:0:476:14542:0 1/1:-1598.68,-176.992,0:631:3:610:18808:86 1/1:-940.908,-105.768,0:380:2:367:11282:72 1/1:-1015.14,-114.337,0:389:1:383:12055:14 1/1:-1157.21,-132.244,0:470:2:452:13785:50 1/1:-1843.24,-206.385,0:722:3:695:21609:42 1/1:-1356.58,-151.999,0:534:2:511:15856:28 1/1:-412.093,-48.0984,0:173:2:166:4891:28 1/1:-1437.57,-162.838,0:565:1:544:16956:14 1/1:-1556.8,-173.919,0:610:3:589:18294:55 1/1:-488.954,-56.8452,0:197:1:192:5821:14 1/1:-1364.05,-151.476,0:516:1:503:15906:14 1/1:-1185.15,-132.379,0:467:2:446:13975:28 1/1:-525.665,-59.2538,0:205:1:200:6144:14 1/1:-1643.86,-182.424,0:623:0:606:19220:0 0/1:-364.15,0,-464.43:391:201:178:5638:6666 1/1:-1379.27,-154.127,0:523:0:512:15905:0 1/1:-1515.46,-171.469,0:598:3:579:17859:42 1/1:-1706.69,-188.624,0:660:3:636:20016:42 1/1:-1206.57,-140.28,0:488:0:466:14207:0 1/1:-1314.02,-148.408,0:511:0:493:15478:0 1/1:-797.004,-90.5747,0:320:2:307:9542:28 0/1:-436.746,0,-466.923:436:216:209:6676:7012 1/1:-1605.02,-182.649,0:632:2:613:18923:28 1/1:-1510.73,-167.639,0:590:2:567:17902:41 1/1:-1254.78,-144.795,0:502:0:481:14915:0 1/1:-1507.55,-172.081,0:595:3:579:17746:42 1/1:-1252.38,-144.55,0:495:1:480:14602:14 1/1:-916.244,-106.224,0:369:1:354:10807:14 1/1:-1161.11,-126.28,0:449:1:429:13630:36 1/1:-1404.05,-145.529,0:570:9:540:16662:236 1/1:-767,-89.4059,0:302:0:297:9127:0 1/1:-970.501,-113.735,0:394:1:381:11532:14 1/1:-1159.68,-130.572,0:455:2:440:13619:28 1/1:-946.578,-106.648,0:382:3:369:11309:60 1/1:-1646.34,-187.843,0:643:0:624:19377:0 1/1:-1146.33,-126.521,0:448:2:433:13347:50 1/1:-1009.28,-113.863,0:400:2:391:11934:50 1/1:-1639.43,-183.175,0:641:2:620:19226:46 1/1:-1316.11,-144.586,0:515:3:495:15639:60 1/1:-718.229,-85.7749,0:300:1:288:8678:14 1/1:-1360.23,-156.536,0:532:0:520:15972:0 1/1:-1002.68,-114.391,0:387:0:380:11753:0 1/1:-1288.62,-149.156,0:522:1:505:15239:36 1/1:-1377.85,-151.081,0:537:3:523:16346:82 1/1:-1488.01,-168.566,0:589:1:563:17524:14 1/1:-1660.89,-184.023,0:642:3:626:19520:60 1/1:-822.51,-96.1155,0:345:2:332:9892:50 1/1:-1273.97,-145.699,0:495:0:484:14832:0 1/1:-1452.66,-159.665,0:578:4:561:17002:135 1/1:-1436.47,-166.169,0:565:0:552:16898:0 1/1:-1442.16,-164.909,0:579:1:551:17032:14 1/1:-917.85,-105.059,0:361:0:349:10815:0 1/1:-787.725,-89.0527,0:306:1:299:9206:14 1/1:-1303.33,-145.844,0:511:1:494:15353:36 1/1:-1428,-161.237,0:566:2:545:16847:63 1/1:-1698.68,-193.206,0:673:1:645:19968:14 1/1:-1280.55,-146.301,0:495:0:486:15171:0 1/1:-947.701,-108.973,0:374:0:362:11078:0 1/1:-1234.73,-138.626,0:481:1:469:14467:32 1/1:-1054.9,-122.82,0:415:0:408:12412:0 0/1:-609.738,0,-647.787:618:309:304:9408:9813 1/1:-795.462,-93.9094,0:326:1:315:9531:14 1/1:-1426.54,-162.199,0:551:1:542:16777:14 1/1:-1752.7,-187.83,0:688:5:659:20690:145 1/1:-1271.83,-145.096,0:502:0:482:14889:0 1/1:-1544.4,-171.058,0:599:3:584:18084:64 1/1:-1282.33,-144.476,0:503:1:483:15021:14 1/1:-1490.08,-171.887,0:591:2:574:17449:28 . 0/1:-208.99,0,-284.895:230:123:104:3178:4080:123,104 . 1/1:-780.344,-85.0319,0:301:1:292:9135:36:1,292 1/1:-412.709,-44.8535,0:154:0:149:4801:0:0,149 1/1:-746.501,-79.434,0:278:1:270:8620:36:1,270 1/1:-1001.97,-111.051,0:378:1:370:11628:14:1,370 1/1:-755.296,-79.8543,0:288:2:282:8912:63:2,282 1/1:-844.081,-91.2121,0:306:0:303:9929:0:0,303 1/1:-720.027,-78.0446,0:275:1:265:8402:32:1,265 1/1:-550.188,-61.4101,0:210:0:204:6430:0:0,204 1/1:-681.312,-73.7229,0:255:1:246:7945:14:1,246 1/1:-749.18,-83.6863,0:282:0:278:8713:0:0,278 1/1:-714.771,-77.9668,0:271:0:259:8396:0:0,259 1/1:-740.94,-81.2781,0:275:0:270:8635:0:0,270 1/1:-689.383,-74.9565,0:256:0:249:8027:0:0,249 1/1:-808.542,-88.5028,0:304:0:294:9372:0:0,294 1/1:-615.799,-68.4084,0:242:1:233:7302:32:1,233 1/1:-701.504,-75.5585,0:262:0:251:8142:0:0,251 1/1:-728.017,-78.5688,0:268:0:261:8411:0:0,261 1/1:-628.491,-68.6348,0:231:0:228:7319:0:0,228 chr2 179615931 . C G 13223.73 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=595;CIGAR=1X;DP=62166;DPB=604;DPRA=0;EPP=5.29126;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=38.7529;MQMR=0;NS=1;NUMALT=1;ODDS=827.841;PAIRED=0.998319;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=17932;QR=0;RO=0;RPL=182;RPP=197.753;RPPR=0;RPR=413;RUN=1;SAF=398;SAP=150.455;SAR=197;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G11196C:p.L3732F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;1000g2015aug_all=0.97504;avsnp147=rs922985;Kaviar_AF=0.971107;Kaviar_AC=150135;Kaviar_AN=154602;ExAC_ALL=0.9926;ExAC_AFR=0.9195;ExAC_AMR=0.9971;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9912;ExAC_SAS=0.9998;CLNALLELEID=56899;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.103;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_pred=N;VEST3_score=0.008;CADD_raw=0.163;CADD_phred=4.287;DANN_score=0.961;fathmm-MKL_coding_score=0.089;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.973;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.9;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.428;phastCons20way_mammalian=0.322;SiPhy_29way_logOdds=5.488;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9945;gnomAD_exome_AFR=0.9206;gnomAD_exome_AMR=0.9972;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9965;gnomAD_exome_SAS=0.9998;gnomAD_genome_ALL=0.9762;gnomAD_genome_AFR=0.9169;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1517.94,-179.113,0:604:0:595:17932:0 1/1:-1545.05,-177.1,0:624:5:604:18105:70 1/1:-1698.76,-197.572,0:688:6:675:20071:84 1/1:-1009.37,-120.075,0:410:1:400:12016:14 1/1:-1443.42,-168.934,0:591:5:575:16987:70 1/1:-1496.99,-175.839,0:600:2:587:17406:28 1/1:-1541.28,-182.03,0:622:2:609:17993:28 1/1:-1377.11,-164.522,0:566:2:555:16136:35 1/1:-1259.69,-145.947,0:499:1:488:14759:14 1/1:-1531.37,-182.582,0:638:5:622:18162:70 1/1:-1234.23,-144.464,0:499:2:486:14495:28 1/1:-1473.3,-172.571,0:599:4:586:17339:56 1/1:-1374.49,-157.083,0:538:1:525:15969:14 1/1:-1262.7,-148.559,0:515:3:501:14871:42 1/1:-1375.9,-161.296,0:548:1:539:15957:14 1/1:-1879.54,-221.65,0:764:4:747:22147:56 1/1:-1285.16,-151.917,0:520:2:513:14984:35 1/1:-2512.81,-293.613,0:1007:5:985:29241:70 1/1:-1449.84,-168.521,0:576:1:563:17102:14 1/1:-1014.54,-124.325,0:421:0:413:11949:0 1/1:-1249.67,-147.346,0:508:3:499:14680:42 1/1:-1941.32,-224.038,0:773:4:757:22635:56 1/1:-980.252,-115.789,0:404:3:394:11610:42 1/1:-1510.85,-183.906,0:621:1:614:17563:14 1/1:-1639.96,-190.06,0:657:2:640:19129:41 1/1:-1023.33,-124.927,0:422:0:415:12048:0 1/1:-1387.56,-158.867,0:549:2:534:16128:28 1/1:-1781.84,-209.444,0:711:2:702:20816:28 1/1:-1058.49,-129.466,0:450:2:439:12677:46 1/1:-966.011,-113.119,0:391:2:382:11477:28 1/1:-1283.92,-149.872,0:509:3:502:15001:55 1/1:-2034.42,-234.001,0:811:5:792:23784:103 1/1:-1488.14,-174.189,0:597:2:585:17392:28 1/1:-408.923,-49.0289,0:170:2:167:4991:28 1/1:-1628.78,-195.331,0:658:1:650:19169:14 1/1:-1608.25,-195.648,0:667:1:653:18863:14 1/1:-536.542,-65.0225,0:223:0:216:6304:0 1/1:-1739.67,-200.997,0:691:3:677:20391:42 1/1:-1334.28,-158.587,0:542:1:530:15692:14 1/1:-604.349,-69.1815,0:241:1:233:7088:14 1/1:-1718.38,-200.8,0:687:3:673:20243:42 1/1:-1181.9,-139.678,0:471:0:464:13759:0 1/1:-1568.84,-182.96,0:620:2:614:18185:28 1/1:-1600.96,-189.864,0:658:3:640:18808:42 1/1:-2159.07,-256.969,0:869:2:860:25191:28 1/1:-1437.99,-169.96,0:592:3:578:17009:55 1/1:-1274.33,-151.311,0:519:2:509:14882:28 1/1:-1011.03,-120.111,0:405:0:399:11874:0 1/1:-1171.95,-138.435,0:473:1:461:13686:14 1/1:-1755.2,-201.809,0:703:5:684:20492:70 1/1:-1604.02,-189.929,0:644:1:634:18847:14 1/1:-1434.03,-170.875,0:589:2:574:16760:28 1/1:-1666.92,-197.119,0:664:1:658:19525:14 1/1:-1350.15,-157.081,0:537:1:525:15706:14 1/1:-1086.35,-132.005,0:458:3:450:12963:49 1/1:-1238.56,-138.93,0:484:4:474:14425:56 1/1:-1608.54,-178.851,0:633:7:616:18802:98 1/1:-936.815,-111.978,0:381:1:375:11045:14 1/1:-1139.16,-135.125,0:464:2:455:13469:28 1/1:-1217.7,-144.082,0:498:2:485:14216:28 1/1:-1007.11,-120.967,0:416:2:406:11953:28 1/1:-1902.34,-224.494,0:766:2:752:22233:28 1/1:-1261.85,-147.505,0:497:0:490:14617:0 1/1:-1173.43,-138.683,0:483:3:470:13966:42 1/1:-1810.47,-208.916,0:726:4:709:21204:69 1/1:-1414.43,-164.557,0:566:2:553:16527:28 1/1:-847.026,-103.832,0:355:1:348:10123:14 1/1:-1457.08,-169.472,0:578:3:569:17040:42 1/1:-1063.49,-123.965,0:424:2:418:12410:28 1/1:-1356.89,-163.576,0:578:5:557:16227:70 1/1:-1435.19,-170.27,0:582:2:572:16794:28 1/1:-1745.17,-199.117,0:681:3:671:20411:42 1/1:-1748.04,-202.292,0:683:0:672:20411:0 1/1:-860.291,-106.13,0:380:4:368:10335:74 1/1:-1353.85,-161.207,0:559:3:545:15901:49 1/1:-1530.77,-175.517,0:622:5:605:17982:92 1/1:-1753.69,-204.645,0:694:1:683:20484:14 1/1:-1560.34,-188.086,0:644:2:629:18277:28 1/1:-951.871,-118.606,0:401:0:394:11177:0 1/1:-830.339,-94.9807,0:334:4:324:9798:56 1/1:-1517.76,-179.938,0:616:2:600:17800:28 1/1:-1617.76,-196.517,0:669:1:656:19009:14 1/1:-1929.75,-226.546,0:775:3:762:22855:42 1/1:-1348.96,-162.29,0:556:2:542:15947:28 1/1:-1064.99,-128.54,0:433:0:427:12641:0 1/1:-1291.99,-154.335,0:531:2:517:15108:28 1/1:-1303.65,-157.933,0:544:2:531:15352:28 1/1:-1625.92,-192.146,0:662:4:649:19005:56 1/1:-929.846,-109.148,0:380:3:372:11084:42 1/1:-1519.14,-178.118,0:608:2:596:17737:28 1/1:-2045.59,-236.583,0:815:6:798:23899:84 1/1:-1241.58,-148.351,0:504:1:496:14540:14 1/1:-1748.62,-207.109,0:699:0:688:20504:0 1/1:-1476.53,-173.337,0:587:1:579:17288:14 1/1:-1753.8,-199.622,0:696:5:677:20518:70 . 1/1:-1004.26,-110.078,0:377:2:372:11676:28:2,372 1/1:-1190.24,-132.152,0:443:0:439:13716:0:0,439 1/1:-1280.41,-142.332,0:482:1:476:14875:14:1,476 1/1:-638.392,-69.5379,0:234:0:231:7441:0:0,231 1/1:-1136.58,-127.035,0:426:0:422:13167:0:0,422 1/1:-1628.93,-180.633,0:615:3:604:18860:42:3,604 1/1:-1179.61,-127.873,0:449:5:437:13780:70:5,437 1/1:-1268.73,-139.913,0:476:2:471:14747:28:2,471 1/1:-1030.1,-113.684,0:389:2:384:11974:28:2,384 1/1:-937.641,-103.855,0:347:0:345:10892:0:0,345 1/1:-1061.29,-115.796,0:398:2:391:12258:28:2,391 1/1:-982.203,-107.779,0:369:2:361:11410:28:2,361 1/1:-1103.53,-124.325,0:416:0:413:12904:0:0,413 1/1:-1091.24,-122.529,0:412:1:410:12662:14:1,410 1/1:-1162.46,-130.045,0:437:0:432:13392:0:0,432 1/1:-1233.03,-137.872,0:462:0:458:14379:0:0,458 1/1:-1090.75,-118.172,0:409:4:403:12751:56:4,403 1/1:-1087.85,-120.111,0:402:0:399:12630:0:0,399 1/1:-1107.79,-120.401,0:404:1:401:12797:14:1,401 1/1:-1059.71,-114.711,0:402:3:397:12354:64:3,397 chr2 179615994 . T C 13211.41 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=599;CIGAR=1X;DP=62343;DPB=617;DPRA=0;EPP=138.044;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=39.0017;MQMR=23;NS=1;NUMALT=1;ODDS=826.537;PAIRED=0.996661;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=18001;QR=21;RO=1;RPL=330;RPP=16.4995;RPPR=5.18177;RPR=269;RUN=1;SAF=351;SAP=41.4697;SAR=248;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11133G:p.T3711T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;1000g2015aug_all=0.97504;avsnp147=rs922986;Kaviar_AF=0.979276;Kaviar_AC=151398;Kaviar_AN=154602;ExAC_ALL=0.9926;ExAC_AFR=0.9200;ExAC_AMR=0.9970;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9912;ExAC_SAS=0.9997;CLNALLELEID=56897;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9944;gnomAD_exome_AFR=0.9208;gnomAD_exome_AMR=0.9971;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9965;gnomAD_exome_SAS=0.9997;gnomAD_genome_ALL=0.9760;gnomAD_genome_AFR=0.9163;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1544.62,-178.917,0:617:1:599:18001:21 1/1:-1518.12,-181.814,0:622:1:607:17618:14 1/1:-1646.53,-197.612,0:685:2:661:19239:41 1/1:-932.016,-109.721,0:393:2:380:11052:59 1/1:-1423.53,-170.383,0:580:0:566:16703:0 1/1:-1412.91,-166.71,0:576:2:558:16356:28 1/1:-1413.62,-170.985,0:587:0:568:16512:0 1/1:-1418.64,-167.618,0:589:1:560:16550:14 1/1:-1231.35,-149.01,0:509:0:495:14309:0 1/1:-1555.73,-188.386,0:647:2:627:18403:41 1/1:-1221.26,-148.086,0:510:1:495:14236:14 1/1:-1493.7,-177.288,0:607:1:592:17508:14 1/1:-1366.01,-160.75,0:552:0:534:15840:0 1/1:-1225.41,-142.277,0:496:2:479:14320:28 1/1:-1272.94,-149.913,0:512:0:498:14886:0 1/1:-1867.84,-220.288,0:756:2:738:21826:28 1/1:-1233.8,-149.895,0:517:1:501:14298:14 1/1:-2482.59,-288.376,0:984:1:961:28800:14 1/1:-1516.6,-176.429,0:598:2:587:17648:28 1/1:-982.805,-117.781,0:410:2:400:11590:41 1/1:-1215.78,-147.697,0:510:1:492:14252:27 1/1:-1838.34,-217.68,0:748:1:723:21264:27 1/1:-972.82,-115.842,0:410:1:388:11315:14 1/1:-1462.38,-174.242,0:596:1:582:17022:14 1/1:-1576.93,-184.531,0:630:0:613:18437:0 1/1:-1027.45,-121.862,0:422:1:408:12128:14 1/1:-1332.3,-159.792,0:551:1:534:15595:14 1/1:-1682.88,-195.067,0:663:0:648:19687:0 1/1:-1088.72,-133.281,0:472:2:449:12865:28 1/1:-906.998,-110.14,0:377:1:367:10703:14 1/1:-1313.21,-152.868,0:524:1:511:15205:14 1/1:-2028.45,-241.867,0:843:3:811:23524:49 1/1:-1478.77,-175.199,0:601:0:582:17189:0 1/1:-412.09,-50.573,0:172:0:168:4835:0 1/1:-1626.1,-196.5,0:677:2:659:19111:28 1/1:-1502.98,-179.704,0:623:1:600:17531:14 1/1:-533.273,-64.7215,0:219:0:215:6182:0 1/1:-1718.42,-201.679,0:692:1:673:19956:14 1/1:-1309.65,-154.7,0:535:2:520:15461:28 1/1:-585.659,-66.393,0:237:3:228:6848:42 1/1:-1787.06,-209.818,0:717:0:697:20749:0 1/1:-1129.17,-133.02,0:452:1:443:13140:14 1/1:-1443.13,-171.266,0:584:1:572:16730:14 1/1:-1570.52,-186.94,0:643:0:621:18329:0 1/1:-2136.56,-249.443,0:855:2:835:24787:28 1/1:-1489.98,-174.833,0:604:4:588:17566:56 1/1:-1144.08,-135.765,0:468:0:451:13313:0 1/1:-954.577,-112.585,0:384:0:374:11169:0 1/1:-1143.16,-138.323,0:494:1:469:13297:36 1/1:-1679.63,-195.54,0:686:4:662:19597:56 1/1:-1453.76,-173.94,0:604:1:581:16816:14 1/1:-1291.08,-155.258,0:543:2:522:15116:28 1/1:-1713.01,-193.953,0:674:3:656:19899:55 1/1:-1340.18,-161.352,0:553:0:536:15591:0 1/1:-1124.98,-136.668,0:467:0:454:13164:0 1/1:-1133.05,-136.668,0:468:0:454:13163:0 1/1:-1602.76,-186.618,0:640:1:623:18563:14 1/1:-916.076,-107.35,0:373:2:361:10810:41 1/1:-1116.27,-131.851,0:452:0:438:12964:0 1/1:-1111.91,-133.248,0:455:1:444:12900:27 1/1:-989.185,-122.218,0:417:0:406:11525:0 1/1:-1832.57,-219.164,0:755:2:729:21340:28 1/1:-1152,-137.012,0:466:1:455:13427:32 1/1:-1188.36,-143.414,0:511:3:488:13872:55 1/1:-1765.36,-207.069,0:708:1:689:20562:14 1/1:-1341.48,-159.245,0:544:0:529:15585:0 1/1:-855.645,-106.623,0:362:1:354:10098:14 1/1:-1480.44,-173.393,0:593:0:576:17071:0 1/1:-975.044,-117.101,0:401:0:389:11329:0 1/1:-1307.15,-160.925,0:553:2:539:15600:50 1/1:-1295.52,-155.633,0:528:0:517:15213:0 1/1:-1694.94,-200.787,0:685:0:667:19645:0 1/1:-1630.41,-190.799,0:652:1:637:18839:14 1/1:-805.451,-104.457,0:362:0:347:9631:0 1/1:-1286.74,-152.923,0:517:0:508:14990:0 1/1:-1558.15,-181.2,0:618:1:605:18215:14 1/1:-1602.95,-185.982,0:640:1:621:18688:14 1/1:-1511.22,-182.725,0:631:0:607:17715:0 1/1:-874.95,-106.264,0:368:0:353:10230:0 1/1:-774.825,-89.3544,0:310:1:300:9000:14 1/1:-1530.32,-182.972,0:633:1:611:18044:14 1/1:-1530.15,-182.972,0:628:1:611:17799:14 1/1:-1829.49,-220.9,0:758:1:737:21406:14 1/1:-1368.84,-163.406,0:561:1:546:16100:14 1/1:-1077.78,-127.938,0:439:0:425:12697:0 1/1:-1169.66,-140.563,0:483:1:470:13750:14 1/1:-1320,-157.082,0:541:1:525:15395:14 1/1:-1683.83,-196.811,0:685:2:660:19595:28 1/1:-887.384,-105.952,0:362:1:355:10375:14 1/1:-1506.09,-181.112,0:622:2:608:17541:28 1/1:-1926.02,-225.925,0:787:1:760:22559:36 1/1:-1196.72,-141.165,0:491:1:472:13897:14 1/1:-1727.94,-207.098,0:706:1:691:20104:14 1/1:-1354.31,-161.018,0:552:3:541:15806:55 1/1:-1620.06,-192.905,0:660:1:644:18770:14 . 1/1:-1131.84,-125.831,0:420:0:418:13077:0:0,418 1/1:-1335.45,-146.301,0:501:0:486:15357:0:0,486 1/1:-1533.23,-172.791,0:591:0:574:17677:0:0,574 1/1:-692.727,-78.5688,0:268:0:261:8041:0:0,261 1/1:-1228.7,-139.076,0:472:0:462:14174:0:0,462 1/1:-1770.03,-200.779,0:685:1:670:20538:14:1,670 1/1:-1279.82,-141.77,0:482:1:474:14792:14:1,474 1/1:-1374.4,-152.923,0:519:0:508:15908:0:0,508 1/1:-1116.2,-123.723,0:421:0:411:12887:0:0,411 1/1:-1117.97,-123.121,0:421:0:409:12966:0:0,409 1/1:-1194,-132.132,0:456:1:446:13863:27:1,446 1/1:-1003.64,-113.488,0:384:0:377:11607:0:0,377 1/1:-1220.11,-135.162,0:458:0:449:14158:0:0,449 1/1:-1262.33,-142.989,0:486:0:475:14532:0:0,475 1/1:-1419.15,-157.138,0:529:0:522:16347:0:0,522 1/1:-1354.89,-152.622,0:519:0:507:15735:0:0,507 1/1:-1277.93,-141.484,0:479:0:470:14738:0:0,470 1/1:-1220.43,-135.056,0:461:1:450:14164:27:1,450 1/1:-1180.51,-130.346,0:442:0:433:13597:0:0,433 1/1:-1215.68,-134.259,0:455:0:446:14099:0:0,446 chr2 179616210 . G A 5243.97 . AB=0.493921;ABP=3.22151;AC=2;AF=0.5;AN=4;AO=325;CIGAR=1X;DP=1070;DPB=658;DPRA=0;EPP=40.5935;EPPR=103.384;GTI=0;LEN=1;MEANALT=3;MQM=39.44;MQMR=39.4627;NS=1;NUMALT=1;ODDS=1478.34;PAIRED=0.978462;PAIREDR=0.981366;PAO=0;PQA=0;PQR=0;PRO=0;QA=9974;QR=10119;RO=322;RPL=187;RPP=19.0525;RPPR=5.19526;RPR=138;RUN=1;SAF=149;SAP=7.88108;SAR=176;SF=0;SRF=154;SRP=4.33207;SRR=168;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C10917T:p.G3639G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0017;1000g2015aug_all=0.000998403;avsnp147=rs140804168;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0012;ExAC_OTH=0.0033;ExAC_SAS=0;CLNALLELEID=56894;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-655.476,0,-664.318:658:322:325:9974:10119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-421.241,0,-382.341:412:190:213:6343:5912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179616717 . G A 448.56 . AB=0.508197;ABP=3.0459;AC=1;AF=0.5;AN=2;AO=31;CIGAR=1X;DP=61;DPB=61;DPRA=0;EPP=61.9202;EPPR=40.5458;GTI=0;LEN=1;MEANALT=3;MQM=39.0968;MQMR=37.8571;NS=1;NUMALT=1;ODDS=92.8474;PAIRED=0.935484;PAIREDR=0.964286;PAO=0;PQA=0;PQR=0;PRO=0;QA=1095;QR=940;RO=28;RPL=30;RPP=61.9202;RPPR=47.6806;RPR=1;RUN=1;SAF=0;SAP=70.3259;SAR=31;SF=1;SRF=1;SRP=55.4358;SRR=27;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C10410T:p.D3470D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs727505183;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=6.669e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=7.559e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=173299;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.164e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.628e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.701e-05;gnomAD_exome_NFE=4.826e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.531e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-72.8871,0,-61.0875:61:28:31:1095:940:28,31 . . . . . . . . . . . . . chr2 179616768 . TGGA TGT 45.50 . AB=0;ABP=0;AC=3;AF=1;AN=4;AO=8;CIGAR=1M1D1M1X;DP=37;DPB=22;DPRA=0;EPP=20.3821;EPPR=3.73412;GTI=0;LEN=3;MEANALT=11;MQM=32.5;MQMR=18.6667;NS=1;NUMALT=1;ODDS=11.4144;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=162;QR=49;RO=3;RPL=0;RPP=20.3821;RPPR=3.73412;RPR=8;RUN=1;SAF=0;SAP=20.3821;SAR=8;SF=0;SRF=0;SRP=9.52472;SRR=3;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 1/1:-10.4269,-0.610234,0:26:3:8:162:49 . 0/1:-6.56047,0,-0.253837:11:1:6:97:26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179616769 . GGAAAAAAAAAAAAAAAC GTAAAAAAAAAAAAAC,TGAAAAAAAAAAAAAAAC,TTAAAAAAAAAAAAAAAC,GTAAAAAAAAAAAAAAAC,GGAAAAAAAAAAAAAAC 43.71 . AB=0.289474;ABP=17.6392;AC=2,1,2,1,2;AF=0.5;AN=10;AO=11;CIGAR=1M1X;DP=104;DPB=41;DPRA=0;EPP=19.0002;EPPR=3.0103;GTI=0;LEN=1;MEANALT=7;MQM=26.5455;MQMR=41;NS=1;NUMALT=1;ODDS=5.08217;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=183;QR=58;RO=2;RPL=1;RPP=19.0002;RPPR=3.0103;RPR=10;RUN=1;SAF=0;SAP=26.8965;SAR=11;SF=0;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.526158;avsnp147=rs397986815;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.4728;ExAC_AFR=0.4880;ExAC_AMR=0.4770;ExAC_EAS=0.5124;ExAC_FIN=0.5317;ExAC_NFE=0.4633;ExAC_OTH=0.47;ExAC_SAS=0.4564;CLNALLELEID=56888;CLNDN=Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9|not_specified;CLNDISDB=MedGen:C1858763,OMIM:604145|MedGen:C1861065,OMIM:613765|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4641;gnomAD_exome_AFR=0.4833;gnomAD_exome_AMR=0.4591;gnomAD_exome_ASJ=0.4178;gnomAD_exome_EAS=0.5010;gnomAD_exome_FIN=0.4939;gnomAD_exome_NFE=0.4596;gnomAD_exome_OTH=0.4596;gnomAD_exome_SAS=0.4514;gnomAD_genome_ALL=0.6879;gnomAD_genome_AFR=0.7583;gnomAD_genome_AMR=0.5938;gnomAD_genome_ASJ=0.5;gnomAD_genome_EAS=0.9040;gnomAD_genome_FIN=0.5439;gnomAD_genome_NFE=0.6469;gnomAD_genome_OTH=0.6291;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/4:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.2654,.,.,.,.,.,.:38:2:.,.,.,11,.:.,.,.,183,.:58 . . . . . . . . . . . . . . 0/2:.,.,.,.,.,-1.32786,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:10:3:.,7,.,.,.:.,98,.,.,.:49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5/5:-10.2063,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-6.0206,.,.,.,.,0:18:0:.,.,.,.,6:.,.,.,.,115:0 . . . . 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:24:0:17,.,.,.,.:238,.,.,.,.:0 . . . . . . . . . 3/3:.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.:14:1:.,.,7,.,.:.,.,98,.,.:14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179616770 . GAAAAAAAAAAAAAAAC TAAAAAAAAAAAAAAAC,GAAAAAAAAAAAAAAC,GAAAAAAAAAAAAAC,GTAAAAAAAAAAAAAAC 59.87 . AB=0;ABP=0;AC=4,36,17,2;AF=1;AN=62;AO=12;CIGAR=1M1D15M;DP=1051;DPB=48.7647;DPRA=0;EPP=9.52472;EPPR=3.73412;GTI=0;LEN=1;MEANALT=16;MQM=32.4167;MQMR=29;NS=1;NUMALT=1;ODDS=13.8327;PAIRED=1;PAIREDR=1;PAO=7;PQA=160.5;PQR=160.5;PRO=7;QA=199;QR=91;RO=3;RPL=3;RPP=9.52472;RPPR=3.73412;RPR=9;RUN=1;SAF=0;SAP=29.068;SAR=12;SF=0;SRF=0;SRP=9.52472;SRR=3;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.526158;avsnp147=rs397986815;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.4728;ExAC_AFR=0.4880;ExAC_AMR=0.4770;ExAC_EAS=0.5124;ExAC_FIN=0.5317;ExAC_NFE=0.4633;ExAC_OTH=0.47;ExAC_SAS=0.4564;CLNALLELEID=56888;CLNDN=Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9|not_specified;CLNDISDB=MedGen:C1858763,OMIM:604145|MedGen:C1861065,OMIM:613765|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4641;gnomAD_exome_AFR=0.4833;gnomAD_exome_AMR=0.4591;gnomAD_exome_ASJ=0.4178;gnomAD_exome_EAS=0.5010;gnomAD_exome_FIN=0.4939;gnomAD_exome_NFE=0.4596;gnomAD_exome_OTH=0.4596;gnomAD_exome_SAS=0.4514;gnomAD_genome_ALL=0.6879;gnomAD_genome_AFR=0.7583;gnomAD_genome_AMR=0.5938;gnomAD_genome_ASJ=0.5;gnomAD_genome_EAS=0.9040;gnomAD_genome_FIN=0.5439;gnomAD_genome_NFE=0.6469;gnomAD_genome_OTH=0.6291;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.120008;avsnp147=rs397517802;Kaviar_AF=0.0027296;Kaviar_AC=422;Kaviar_AN=154602;ExAC_ALL=0.2184;ExAC_AFR=0.1915;ExAC_AMR=0.1507;ExAC_EAS=0.3188;ExAC_FIN=0.2508;ExAC_NFE=0.2294;ExAC_OTH=0.2087;ExAC_SAS=0.1762;CLNALLELEID=56889;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1465;gnomAD_exome_AFR=0.0948;gnomAD_exome_AMR=0.0871;gnomAD_exome_ASJ=0.1351;gnomAD_exome_EAS=0.1628;gnomAD_exome_FIN=0.1625;gnomAD_exome_NFE=0.1667;gnomAD_exome_OTH=0.1414;gnomAD_exome_SAS=0.1377;gnomAD_genome_ALL=0.0875;gnomAD_genome_AFR=0.0252;gnomAD_genome_AMR=0.0486;gnomAD_genome_ASJ=0.1085;gnomAD_genome_EAS=0.0627;gnomAD_genome_FIN=0.1402;gnomAD_genome_NFE=0.1230;gnomAD_genome_OTH=0.1098;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR 2/2:-10.4047,.,.,-6.01713,.,0,.,.,.,.,.,.,.,.,.:42:3:.,12,.,.:.,199,.,.:91 2/2:-13.7168,.,.,-3.77544,.,0,.,.,.,.,.,.,.,.,.:36:2:.,13,.,.:.,206,.,.:57 . . . 3/3:-12.6275,.,.,.,.,.,-8.72987,.,.,0,.,.,.,.,.:22:0:.,.,11,.:.,.,143,.:0 . . . . . . . . . . . . . . . . . 2/2:-4.37814,.,.,-8.30664,.,0,.,.,.,.,.,.,.,.,.:26:3:.,6,.,.:.,105,.,.:94 . . 2/2:-11.5037,.,.,-3.87978,.,0,.,.,.,.,.,.,.,.,.:41:3:.,15,.,.:.,219,.,.:95 . . 0/3:-6.28355,.,.,.,.,.,0,.,.,-2.47895,.,.,.,.,.:35:2:.,.,8,.:.,.,123,.:55 . 1/1:-10.9844,-3.60962,0,.,.,.,.,.,.,.,.,.,.,.,.:57:4:13,.,.,.:216,.,.,.:118 . . . 3/3:-17.0778,.,.,.,.,.,-8.42884,.,.,0,.,.,.,.,.:41:0:.,.,14,.:.,.,202,.:0 . . . 2/2:-3.77245,.,.,-2.17472,.,0,.,.,.,.,.,.,.,.,.:14:1:.,4,.,.:.,78,.,.:33 . . . 3/3:-12.3159,.,.,.,.,.,-8.16913,.,.,0,.,.,.,.,.:42:1:.,.,9,.:.,.,168,.:30 2/2:-20.5052,.,.,-9.45324,.,0,.,.,.,.,.,.,.,.,.:43:1:.,15,.,.:.,259,.,.:29 2/2:-9.81723,.,.,-5.1472,.,0,.,.,.,.,.,.,.,.,.:37:1:.,10,.,.:.,148,.,.:34 3/3:-10.1221,.,.,.,.,.,-6.32163,.,.,0,.,.,.,.,.:24:0:.,.,6,.:.,.,122,.:0 . . . . 2/2:-7.83308,.,.,-2.09323,.,0,.,.,.,.,.,.,.,.,.:21:1:.,7,.,.:.,112,.,.:33 . . . . 3/3:-6.22495,.,.,.,.,.,-7.36122,.,.,0,.,.,.,.,.:30:2:.,.,8,.:.,.,107,.:54 . . . . 2/2:-4.89393,.,.,-16.3098,.,0,.,.,.,.,.,.,.,.,.:25:2:.,8,.,.:.,111,.,.:55 . 2/2:-5.96636,.,.,-3.75388,.,0,.,.,.,.,.,.,.,.,.:28:3:.,9,.,.:.,145,.,.:79 3/3:-12.9615,.,.,.,.,.,-24.1171,.,.,0,.,.,.,.,.:33:2:.,.,11,.:.,.,172,.:60 . . 2/2:-12.1677,.,.,-8.16039,.,0,.,.,.,.,.,.,.,.,.:51:2:.,13,.,.:.,201,.,.:64 . 2/2:-9.45682,.,.,-7.1079,.,0,.,.,.,.,.,.,.,.,.:40:2:.,10,.,.:.,167,.,.:55 . . 0/1:.,.,-9.51382,.,.,.,.,.,.,.,.,.,.,.,.:37:16:21,.,.,.:317,.,.,.:312 . 2/2:-4.05128,.,.,-3.43122,.,0,.,.,.,.,.,.,.,.,.:26:2:.,6,.,.:.,108,.,.:63 3/3:-14.4705,.,.,.,.,.,-9.0309,.,.,0,.,.,.,.,.:25:0:.,.,12,.:.,.,166,.:0 . 2/2:-13.1127,.,.,-6.20806,.,0,.,.,.,.,.,.,.,.,.:34:1:.,12,.,.:.,164,.,.:29 0/1:.,.,-15.866,.,.,.,.,.,.,.,.,.,.,.,.:35:14:10,.,.,.:211,.,.,.:297 2/2:-5.49667,.,.,-4.03522,.,0,.,.,.,.,.,.,.,.,.:27:1:.,6,.,.:.,94,.,.:29 . 3/3:-16.5023,.,.,.,.,.,-6.95126,.,.,0,.,.,.,.,.:36:1:.,.,14,.:.,.,225,.:34 . 4/4:-4.0717,.,.,.,.,.,.,.,.,.,-4.06068,.,.,.,0:35:3:.,.,.,8:.,.,.,121:93 . 2/2:-9.50766,.,.,-8.32311,.,0,.,.,.,.,.,.,.,.,.:28:1:.,8,.,.:.,134,.,.:28 . . . 2/2:-10.3129,.,.,-7.99047,.,0,.,.,.,.,.,.,.,.,.:30:1:.,8,.,.:.,139,.,.:27 . . 2/2:-25.9708,.,.,-23.4803,.,0,.,.,.,.,.,.,.,.,.:50:0:.,20,.,.:.,302,.,.:0 . . . . . . . . . . . . . . . . . . . . . . . chr2 179620949 . CAC CAT,AAC 2222.22 . AB=0;ABP=0;AC=2,0;AF=1;AN=4;AO=160;CIGAR=2M1X;DP=448;DPB=171;DPRA=0;EPP=5.67035;EPPR=0;GTI=0;LEN=1;MEANALT=5;MQM=40.6688;MQMR=0;NS=1;NUMALT=1;ODDS=228.492;PAIRED=0.925;PAIREDR=0;PAO=3;PQA=96;PQR=0;PRO=0;QA=5107;QR=0;RO=0;RPL=76;RPP=3.87889;RPPR=0;RPR=84;RUN=1;SAF=101;SAP=26.9508;SAR=59;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=TTN:NM_133437:exon44:c.10739delG:p.G3580fs,TTN:NM_001267550:exon46:c.11252delG:p.G3751fs\x3bTTN:NM_133437:exon44:c.10739delG:p.G3580fs,TTN:NM_001267550:exon46:c.11252delG:p.G3751fs;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10741T:p.A3581S,TTN:NM_001267550:exon46:c.G11254T:p.A3752S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.459;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.94;FATHMM_pred=T;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.186;CADD_raw=3.397;CADD_phred=23.0;DANN_score=0.974;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.079;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.28;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.162;phastCons20way_mammalian=0.444;SiPhy_29way_logOdds=16.884;GDI_full_10282015=.;dpsi_max_tissue=-3.2670;dpsi_zscore=-2.212;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-450.804,-49.0679,0,.,.,.:170:0:160,.:5107,.:0:0,160 . . 0/0:.,.,.,.,.,-658.743:278:262:.,14:.,345:8001:262,14 . . . . . . . . . . . . . chr2 179620950 . AC AT 9611.14 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=344;CIGAR=1M1X;DP=358;DPB=359;DPRA=0;EPP=9.47422;EPPR=0;GTI=0;LEN=1;MEANALT=6;MQM=40.5843;MQMR=0;NS=1;NUMALT=1;ODDS=482.877;PAIRED=0.959302;PAIREDR=0;PAO=2;PQA=64;PQR=0;PRO=0;QA=11039;QR=0;RO=0;RPL=173;RPP=3.03555;RPPR=0;RPR=171;RUN=1;SAF=189;SAP=10.3075;SAR=155;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=TTN:NM_133437:exon44:c.10739delG:p.G3580fs,TTN:NM_001267550:exon46:c.11252delG:p.G3751fs\x3bTTN:NM_133437:exon44:c.10739delG:p.G3580fs,TTN:NM_001267550:exon46:c.11252delG:p.G3751fs;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-966.591,-104.156,0:358:0:344:11039:0:0,344 . . . . . . . . . . . . . . chr2 179620951 . C T 13034.82 . AB=0;ABP=0;AC=216;AF=1;AN=224;AO=537;CIGAR=1X;DP=61016;DPB=549;DPRA=0;EPP=13.528;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=39.784;MQMR=0;NS=1;NUMALT=1;ODDS=747.436;PAIRED=0.98324;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=16072;QR=0;RO=0;RPL=346;RPP=100.16;RPPR=0;RPR=191;RUN=1;SAF=234;SAP=22.2624;SAR=303;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10739A:p.G3580D,TTN:NM_001267550:exon46:c.G11252A:p.G3751D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9028;esp6500siv2_ea=0.9321;esp6500siv2_all=0.9028;esp6500siv2_ea=0.9321;1000g2015aug_all=0.804513;avsnp147=rs7585334;Kaviar_AF=0.845047;Kaviar_AC=130646;Kaviar_AN=154602;ExAC_ALL=0.8508;ExAC_AFR=0.8372;ExAC_AMR=0.5495;ExAC_EAS=0.7527;ExAC_FIN=0.8849;ExAC_NFE=0.9274;ExAC_OTH=0.8652;ExAC_SAS=0.7953;CLNALLELEID=57016;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.551;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.09;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_pred=N;VEST3_score=0.106;CADD_raw=3.252;CADD_phred=22.8;DANN_score=0.907;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.021;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.2;phyloP7way_vertebrate=0.824;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.228;phastCons20way_mammalian=0.525;SiPhy_29way_logOdds=13.065;GDI_full_10282015=.;dpsi_max_tissue=1.4617;dpsi_zscore=1.763;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8387;gnomAD_exome_AFR=0.8398;gnomAD_exome_AMR=0.5677;gnomAD_exome_ASJ=0.9142;gnomAD_exome_EAS=0.7550;gnomAD_exome_FIN=0.8901;gnomAD_exome_NFE=0.9303;gnomAD_exome_OTH=0.8625;gnomAD_exome_SAS=0.7873;gnomAD_genome_ALL=0.8805;gnomAD_genome_AFR=0.8313;gnomAD_genome_AMR=0.6319;gnomAD_genome_ASJ=0.9205;gnomAD_genome_EAS=0.7716;gnomAD_genome_FIN=0.8864;gnomAD_genome_NFE=0.9314;gnomAD_genome_OTH=0.8959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1376.24,-161.653,0:549:0:537:16072:0 0/1:-616.925,0,-591.21:606:288:308:9209:8933 1/1:-1753.1,-196.261,0:680:2:670:20583:68 1/1:-1017.32,-118.606,0:403:0:394:11850:0 1/1:-1587.28,-182.369,0:624:1:609:18450:14 1/1:-1755.19,-207.661,0:711:2:694:20544:28 1/1:-1447.34,-168.878,0:570:0:561:16846:0 1/1:-1585.93,-184.23,0:627:0:612:18462:0 1/1:-1251.34,-139.678,0:470:0:464:14570:0 1/1:-1772.84,-205.905,0:696:0:684:20752:0 1/1:-1515.83,-176.686,0:606:1:590:17802:14 1/1:-1470.67,-172.791,0:583:0:574:17294:0 1/1:-1489.96,-171.587,0:586:0:570:17333:0 1/1:-1383.13,-164.362,0:557:0:546:16191:0 1/1:-1290.51,-148.352,0:502:1:496:15003:14 1/1:-2055.84,-235.385,0:795:1:785:24003:14 0/1:-485.025,0,-477.832:492:231:249:7478:7192 1/1:-3024.18,-337.991,0:1161:3:1145:35145:86 0/1:-547.021,0,-536.27:568:278:280:8432:8223 1/1:-1014.11,-119.208,0:401:0:396:11781:0 1/1:-1289.33,-148.107,0:505:0:492:15030:0 0/1:-722.695,0,-681.86:701:330:357:10733:10269 1/1:-976.325,-117.703,0:399:0:391:11481:0 1/1:-1855.05,-213.129,0:718:0:708:21542:0 1/1:-1778.34,-201.638,0:692:2:684:20589:54 1/1:-1284.81,-145.896,0:510:2:494:14886:50 1/1:-1585.77,-183.929,0:620:0:611:18464:0 1/1:-1856.5,-211.304,0:724:1:705:21477:14 1/1:-1293.66,-143.528,0:505:3:498:15065:82 1/1:-1131.1,-133.356,0:446:0:443:13184:0 1/1:-1452.96,-160.231,0:555:2:545:16908:50 1/1:-1826.24,-210.119,0:709:0:698:21236:0 1/1:-1538.71,-179.715,0:605:0:597:17946:0 1/1:-442.318,-53.5833,0:179:0:178:5121:0 1/1:-1595.34,-180.259,0:611:1:602:18606:14 1/1:-1791.88,-210.42,0:709:0:699:20924:0 1/1:-628.926,-73.7524,0:250:0:245:7259:0 1/1:-1482.53,-170.684,0:578:0:567:17257:0 1/1:-1523.84,-177.254,0:602:1:592:17864:14 1/1:-640.952,-74.9565,0:254:0:249:7483:0 1/1:-1625.99,-187.843,0:638:0:624:19084:0 0/1:-527.35,0,-629.61:596:307:275:8304:9299 1/1:-1512.6,-175.124,0:600:2:588:17675:28 1/1:-1594.51,-183.628,0:619:0:610:18572:0 1/1:-1996.54,-226.321,0:765:1:755:22930:14 1/1:-1574.55,-179.548,0:613:1:606:18463:36 1/1:-1770.38,-204.098,0:688:0:678:20688:0 1/1:-796.957,-91.5131,0:309:0:304:9220:0 0/1:-380.457,0,-473.502:431:230:190:5813:7001 1/1:-1748.32,-200.917,0:685:1:677:20476:36 1/1:-1680.69,-193.863,0:652:0:644:19398:0 1/1:-1405.82,-165.242,0:567:1:556:16621:27 1/1:-1755.33,-201.991,0:678:0:671:20286:0 1/1:-1691.48,-193.863,0:656:0:644:19639:0 1/1:-1237.9,-143.588,0:508:2:495:14487:68 1/1:-1231.22,-138.474,0:465:0:460:14195:0 1/1:-1831.49,-206.808,0:696:0:687:21129:0 1/1:-1152.26,-135.162,0:451:0:449:13396:0 1/1:-1239.62,-140.37,0:496:4:482:14533:78 1/1:-1648.68,-191.455,0:648:0:636:19074:0 1/1:-1129.06,-135.464,0:463:0:450:13225:0 1/1:-1941.43,-228.181,0:768:0:758:22634:0 1/1:-1581.05,-182.725,0:613:0:607:18389:0 1/1:-1250.99,-149.311,0:503:0:496:14758:0 1/1:-1975.76,-220.327,0:762:3:752:23207:78 1/1:-1654.74,-190.668,0:661:2:650:19346:63 1/1:-974.072,-110.298,0:394:2:383:11575:63 1/1:-1530.16,-176.97,0:599:1:589:17693:14 1/1:-1304.71,-152.537,0:525:1:512:15335:21 1/1:-1674.84,-190.853,0:648:0:634:19436:0 1/1:-1569.39,-184.892,0:622:1:614:18239:14 1/1:-1746.4,-188.734,0:678:4:664:20495:140 1/1:-1814.14,-205.905,0:692:0:684:21039:0 1/1:-1210.46,-150.214,0:512:0:499:14324:0 1/1:-1334.66,-152.02,0:511:0:505:15367:0 1/1:-1976.11,-223.352,0:787:3:767:23090:95 1/1:-1827.3,-212.828,0:714:0:707:21401:0 1/1:-1605.8,-185.133,0:625:0:615:18652:0 1/1:-1138.87,-130.774,0:451:1:444:13321:36 1/1:-1082.94,-122.909,0:421:1:418:12574:36 1/1:-1812.51,-205.603,0:688:0:683:20929:0 1/1:-1681.49,-192.952,0:671:2:659:19617:68 1/1:-1877.3,-218.849,0:736:0:727:21780:0 1/1:-1598.96,-187.241,0:629:0:622:18553:0 1/1:-1535.2,-178.149,0:612:2:601:17963:46 1/1:-1336.57,-155.934,0:527:0:518:15494:0 1/1:-1224.52,-142.387,0:475:0:473:14347:0 0/1:-660.385,0,-694.031:693:346:339:10276:10569 1/1:-902.867,-103.554,0:351:0:344:10494:0 1/1:-1680.98,-193.261,0:657:0:642:19570:0 1/1:-1981.57,-229.228,0:786:1:771:23312:36 1/1:-1364.78,-155.177,0:542:1:525:16057:36 1/1:-2065.83,-237.502,0:804:1:792:23971:14 1/1:-1514.1,-177.667,0:599:1:590:17594:14 1/1:-1713.27,-196.501,0:668:2:659:19875:28 . 0/1:-326.692,0,-378.304:337:173:161:4959:5523:173,161 . 1/1:-1023.05,-109.089,0:377:1:372:11877:36:1,372 . 1/1:-716.668,-79.773,0:269:0:265:8305:0:0,265 . 1/1:-743.569,-81.3873,0:292:2:286:8795:59:2,286 1/1:-806.744,-89.4059,0:300:0:297:9298:0:0,297 1/1:-692.949,-74.4081,0:259:1:257:8034:36:1,257 1/1:-674.141,-73.8693,0:257:1:254:7942:32:1,254 1/1:-781.286,-86.0946,0:289:0:286:9044:0:0,286 1/1:-658.906,-71.6451,0:239:0:238:7633:0:0,238 1/1:-692.03,-75.8596,0:255:0:252:7980:0:0,252 1/1:-746.016,-73.8778,0:289:4:279:8750:127:4,279 1/1:-682.152,-75.8596,0:256:0:252:7885:0:0,252 1/1:-742.621,-80.676,0:272:0:268:8608:0:0,268 1/1:-830.406,-90.008,0:305:0:299:9579:0:0,299 1/1:-744.01,-82.7833,0:278:0:275:8627:0:0,275 1/1:-780.003,-83.3853,0:278:0:277:8967:0:0,277 1/1:-716.46,-76.4616,0:257:0:254:8210:0:0,254 chr2 179621184 . G A 10629.57 . AB=0.472423;ABP=14.8669;AC=4;AF=0.5;AN=8;AO=848;CIGAR=1X;DP=5227;DPB=1795;DPRA=0;EPP=3.10249;EPPR=3.04908;GTI=0;LEN=1;MEANALT=3;MQM=38.6097;MQMR=39.4442;NS=1;NUMALT=1;ODDS=3578.45;PAIRED=0.961085;PAIREDR=0.959821;PAO=0;PQA=0;PQR=0;PRO=0;QA=24813;QR=27582;RO=896;RPL=426;RPP=3.05127;RPPR=3.25265;RPR=422;RUN=1;SAF=315;SAP=124.705;SAR=533;SF=0;SRF=341;SRP=113.998;SRR=555;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.C10506T:p.C3502C,TTN:NM_001267550:exon46:c.C11019T:p.C3673C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0107;esp6500siv2_ea=0.0146;esp6500siv2_all=0.0107;esp6500siv2_ea=0.0146;1000g2015aug_all=0.00519169;avsnp147=rs72955212;Kaviar_AF=0.0113323;Kaviar_AC=1752;Kaviar_AN=154602;ExAC_ALL=0.0114;ExAC_AFR=0.0023;ExAC_AMR=0.0044;ExAC_EAS=0;ExAC_FIN=0.0264;ExAC_NFE=0.0164;ExAC_OTH=0.0111;ExAC_SAS=0.0012;CLNALLELEID=57014;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1544;dpsi_zscore=0.627;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0111;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0055;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0245;gnomAD_exome_NFE=0.0165;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0120;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0269;gnomAD_genome_NFE=0.0154;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1575.1,0,-1823.58:1795:896:848:24813:27582 . 0/1:-926.506,0,-1076.21:1115:555:530:15180:16651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-941.693,0,-1432.82:1303:704:551:15581:21231 0/1:-894.844,0,-1028:1014:511:479:14038:15463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179621323 . A G 7107.96 . AB=0.413043;ABP=69.4762;AC=1;AF=0.5;AN=2;AO=418;CIGAR=1X;DP=1012;DPB=1012;DPRA=0;EPP=90.8043;EPPR=81.1988;GTI=0;LEN=1;MEANALT=3;MQM=38.244;MQMR=38.3982;NS=1;NUMALT=1;ODDS=1636.67;PAIRED=0.983254;PAIREDR=0.951786;PAO=0;PQA=0;PQR=0;PRO=0;QA=12441;QR=17330;RO=560;RPL=185;RPP=14.9794;RPPR=13.4954;RPR=233;RUN=1;SAF=303;SAP=186.619;SAR=115;SF=0;SRF=407;SRP=253.179;SRR=153;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.T10367C:p.V3456A,TTN:NM_001267550:exon46:c.T10880C:p.V3627A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.769;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.32;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.068;CADD_raw=0.237;CADD_phred=5.067;DANN_score=0.675;fathmm-MKL_coding_score=0.285;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.932;MetaSVM_pred=T;MetaLR_score=0.144;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.02;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.012;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=8.631;GDI_full_10282015=.;dpsi_max_tissue=0.0637;dpsi_zscore=0.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-752.193,0,-1152.48:1012:560:418:12441:17330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179621477 . C T 24861.75 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=998;CIGAR=1X;DP=128635;DPB=1018;DPRA=0;EPP=714.905;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=39.3196;MQMR=40;NS=1;NUMALT=1;ODDS=1380.18;PAIRED=0.970942;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=28487;QR=14;RO=1;RPL=799;RPP=786.307;RPPR=5.18177;RPR=199;RUN=1;SAF=232;SAP=623.46;SAR=766;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10213A:p.A3405T,TTN:NM_001267550:exon46:c.G10726A:p.A3576T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9992;esp6500siv2_ea=1;esp6500siv2_all=0.9992;esp6500siv2_ea=1;1000g2015aug_all=0.999002;avsnp147=rs6433728;Kaviar_AF=0.937963;Kaviar_AC=145011;Kaviar_AN=154602;ExAC_ALL=0.9997;ExAC_AFR=0.9962;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=141535;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2453;dpsi_zscore=0.805;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9997;gnomAD_exome_AFR=0.9963;gnomAD_exome_AMR=0.9999;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9992;gnomAD_genome_AFR=0.9973;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2424.65,-299.47,0:1018:1:998:28487:14 1/1:-3529.77,-428.31,0:1460:1:1426:41044:14 1/1:-2696.73,-329.909,0:1115:1:1099:31689:14 1/1:-1921.69,-227.278,0:769:0:755:22437:0 1/1:-3106.65,-364.293,0:1250:4:1227:36390:78 1/1:-3790.43,-453.597,0:1535:1:1510:43911:14 1/1:-2202.72,-274.84,0:933:0:913:25846:0 1/1:-3175.01,-384.716,0:1296:0:1278:36923:0 1/1:-2560.93,-303.583,0:1034:1:1018:29860:36 1/1:-2954.59,-363.289,0:1237:1:1210:34715:14 1/1:-2494.68,-301.577,0:1028:1:1005:29075:14 1/1:-2614.77,-316.016,0:1074:2:1056:30470:28 1/1:-2494.87,-304.477,0:1048:3:1021:29104:42 1/1:-2453.6,-303.15,0:1030:2:1008:29000:28 1/1:-2228.85,-270.325,0:916:0:898:26021:0 1/1:-3794.26,-452.829,0:1548:4:1517:44297:56 1/1:-2105.8,-256.122,0:879:1:854:24486:14 1/1:-5733.05,-687.854,0:2325:0:2285:67104:0 1/1:-2704.63,-321.188,0:1087:1:1070:31440:14 1/1:-1989.95,-244.593,0:839:1:821:23537:32 1/1:-1981.66,-238.75,0:825:3:809:23186:64 1/1:-3237.61,-390.696,0:1320:1:1299:37654:14 1/1:-1599.41,-198.078,0:673:0:658:18933:0 1/1:-3019.88,-360.015,0:1239:3:1202:35067:42 1/1:-3278.99,-392.735,0:1328:2:1311:38218:28 1/1:-2036.59,-253.315,0:872:1:851:23985:36 1/1:-2841.22,-346.13,0:1180:1:1153:33030:14 1/1:-2968.01,-358.809,0:1222:1:1195:34816:14 1/1:-2332.06,-284.152,0:978:1:947:27480:14 1/1:-1863.03,-224.557,0:761:1:749:21712:14 1/1:-2620.05,-319.64,0:1082:1:1065:30833:14 1/1:-3648.95,-443.417,0:1505:0:1473:42644:0 1/1:-3106.52,-372.073,0:1262:0:1236:36000:0 1/1:-883.351,-106.565,0:364:0:354:10362:0 1/1:-2899.18,-351.82,0:1199:3:1178:34042:42 1/1:-3648.39,-438.359,0:1511:5:1472:42493:70 1/1:-1012.83,-121.56,0:418:1:407:11851:14 1/1:-2573.79,-308.816,0:1050:2:1032:30040:28 1/1:-2844.72,-339.998,0:1161:3:1139:33275:42 1/1:-1060.96,-130.346,0:439:0:433:12437:0 1/1:-3622.12,-433.428,0:1471:1:1443:42135:14 1/1:-2460.82,-300.072,0:1023:1:1000:28849:14 1/1:-2975.07,-355.215,0:1203:0:1180:34686:0 1/1:-2860.47,-344.323,0:1170:1:1147:33330:14 1/1:-3415.01,-408.442,0:1380:1:1360:39568:14 1/1:-2809.18,-336.53,0:1154:2:1124:32823:28 1/1:-2796.1,-338.948,0:1155:1:1129:32626:14 1/1:-1642.95,-201.991,0:681:0:671:19236:0 1/1:-2475.67,-292.741,0:1009:2:985:28933:50 1/1:-3507.17,-418.28,0:1420:1:1399:41118:36 1/1:-2829.16,-347.348,0:1183:1:1155:33129:14 1/1:-2782.62,-350.455,0:1207:3:1178:33021:64 1/1:-3271.84,-390.837,0:1345:3:1312:38312:64 1/1:-3302.78,-394.35,0:1356:2:1329:38435:72 1/1:-1997.65,-245.284,0:845:1:818:23576:14 1/1:-2340.18,-279.645,0:968:4:948:27226:78 1/1:-2967.53,-363.644,0:1221:0:1208:34754:0 1/1:-1706.03,-212.226,0:720:0:705:20311:0 1/1:-2206.48,-265.489,0:901:1:885:25723:14 1/1:-2770.32,-331.125,0:1117:1:1103:32186:14 1/1:-2008.28,-250.747,0:853:1:836:23623:14 1/1:-3753.22,-451.233,0:1524:1:1502:43830:14 1/1:-2548.08,-307.597,0:1041:1:1025:29728:14 1/1:-1952.95,-239.62,0:814:0:796:22964:0 1/1:-3495.11,-420.811,0:1431:2:1408:40760:41 1/1:-3148.76,-379.298,0:1275:0:1260:36658:0 1/1:-1495.88,-191.455,0:650:0:636:17675:0 1/1:-2786.41,-336.251,0:1139:0:1117:32413:0 1/1:-2519.23,-303.929,0:1032:2:1016:29709:28 1/1:-3068.97,-376.232,0:1281:1:1253:35699:14 1/1:-2695.16,-330.175,0:1126:1:1100:31409:14 1/1:-3534.39,-420.785,0:1428:1:1401:40986:14 1/1:-2782.2,-336.809,0:1154:4:1128:32473:56 1/1:-2065.37,-257.284,0:882:2:859:24715:28 1/1:-2286.81,-268.48,0:911:1:893:26763:14 1/1:-3259.18,-396.136,0:1344:1:1319:38197:14 1/1:-3359.49,-402.477,0:1371:0:1337:39018:0 1/1:-3089.79,-371.61,0:1274:2:1247:35969:50 1/1:-1761.39,-214.991,0:727:1:714:20620:14 1/1:-1609.15,-191.645,0:661:2:643:18959:28 1/1:-2937.85,-357.47,0:1215:1:1197:34409:36 1/1:-2755.63,-343.174,0:1154:0:1140:32444:0 1/1:-3233.44,-399.125,0:1357:1:1327:37869:14 1/1:-2575.27,-313.634,0:1065:1:1043:30076:14 1/1:-2435.29,-299.224,0:1029:0:994:28504:0 1/1:-2600.52,-321.691,0:1101:2:1075:30687:28 1/1:-2038.4,-248.651,0:839:0:826:24088:0 1/1:-2717.89,-334.48,0:1153:2:1118:32103:41 1/1:-1529.84,-185.123,0:635:1:618:17903:14 1/1:-2733.57,-332.828,0:1131:2:1112:31709:28 1/1:-3383.75,-413.137,0:1422:4:1385:39929:56 1/1:-2747.16,-330.077,0:1125:1:1106:31937:36 1/1:-3239.48,-388.63,0:1315:0:1291:37484:0 1/1:-2953.74,-356.118,0:1220:0:1183:34639:0 1/1:-3555.05,-427.99,0:1455:2:1428:41740:28 . 1/1:-3643.04,-421.99,0:1431:1:1405:41885:14:1,1405 1/1:-3121.48,-358.215,0:1227:1:1193:36062:14:1,1193 1/1:-3281.87,-374.318,0:1294:3:1253:37737:42:3,1253 1/1:-2079.88,-237.815,0:820:1:796:24100:32:1,796 1/1:-2811.99,-324.007,0:1121:2:1089:32389:50:2,1089 1/1:-3214,-373.523,0:1278:1:1244:37006:14:1,1244 1/1:-2957.37,-347.389,0:1184:0:1154:34194:0:0,1154 1/1:-3091.33,-354.016,0:1243:7:1196:35922:98:7,1196 1/1:-2851.99,-331.38,0:1125:1:1104:32988:14:1,1104 1/1:-2939.87,-340.693,0:1177:2:1138:33894:28:2,1138 1/1:-3219.24,-367.859,0:1246:0:1222:37050:0:0,1222 1/1:-2589.92,-300.689,0:1029:1:1000:29896:14:1,1000 1/1:-2647.72,-306.082,0:1049:2:1023:30507:28:2,1023 1/1:-2898.34,-329.327,0:1131:0:1094:33409:0:0,1094 1/1:-2925.49,-347.088,0:1186:0:1153:33778:0:0,1153 1/1:-2771.43,-316.004,0:1091:4:1059:32109:56:4,1059 1/1:-3097.51,-356.367,0:1225:2:1193:35666:46:2,1193 1/1:-2598.57,-297.719,0:1027:0:989:29995:0:0,989 1/1:-2595.02,-296.315,0:1019:4:995:30026:56:4,995 1/1:-3203.06,-371.471,0:1259:0:1234:36941:0:0,1234 chr2 179621503 . C T 8115.09 . AB=0.489155;ABP=4.3762;AC=8;AF=0.5;AN=16;AO=654;CIGAR=1X;DP=7578;DPB=1337;DPRA=0;EPP=452.658;EPPR=548.043;GTI=0;LEN=1;MEANALT=3;MQM=39.1636;MQMR=39.4383;NS=1;NUMALT=1;ODDS=2884.77;PAIRED=0.977064;PAIREDR=0.970282;PAO=0;PQA=0;PQR=0;PRO=0;QA=21271;QR=22543;RO=673;RPL=507;RPP=433.32;RPPR=154.946;RPR=147;RUN=1;SAF=154;SAP=400.503;SAR=500;SF=0,1;SRF=207;SRP=219.451;SRR=466;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10187A:p.S3396N,TTN:NM_001267550:exon46:c.G10700A:p.S3567N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0176;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0176;1000g2015aug_all=0.00638978;avsnp147=rs72955213;Kaviar_AF=0.0140166;Kaviar_AC=2167;Kaviar_AN=154602;ExAC_ALL=0.0141;ExAC_AFR=0.0031;ExAC_AMR=0.0056;ExAC_EAS=0.0001;ExAC_FIN=0.0284;ExAC_NFE=0.0201;ExAC_OTH=0.0124;ExAC_SAS=0.0035;CLNALLELEID=57010;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.455;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.18;FATHMM_pred=T;PROVEAN_score=-0.57;PROVEAN_pred=N;VEST3_score=0.033;CADD_raw=2.386;CADD_phred=18.73;DANN_score=0.908;fathmm-MKL_coding_score=0.829;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=11.159;GDI_full_10282015=.;dpsi_max_tissue=0.2934;dpsi_zscore=0.881;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0061;gnomAD_exome_ASJ=0.0116;gnomAD_exome_EAS=5.817e-05;gnomAD_exome_FIN=0.0266;gnomAD_exome_NFE=0.0202;gnomAD_exome_OTH=0.0134;gnomAD_exome_SAS=0.0035;gnomAD_genome_ALL=0.0141;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0280;gnomAD_genome_NFE=0.0186;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . 0/1:-1395.91,0,-1507.63:1337:673:654:21271:22543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1084.31,0,-1447.63:1148:625:515:16852:21072 . 0/1:-668.849,0,-839.887:720:384:333:10868:12572 . . . . . . . . . . . . . 0/1:-950.089,0,-1045.13:925:475:445:14728:15953 . . . . . . . . . . . . . . . . 0/1:-858.581,0,-1215.4:980:544:428:14028:18079 0/1:-703.64,0,-828.698:710:367:338:11148:12149 . . . . . . 0/1:-964.641,0,-1343.05:1074:591:475:15488:19658 . . . . . 0/1:-702.278,0,-809.065:684:357:323:10698:11717:357,323 . . . . . . . . . . . . . . . . chr2 179623758 . C T 18655.93 . AB=0;ABP=0;AC=220;AF=1;AN=228;AO=767;CIGAR=1X;DP=87185;DPB=783;DPRA=0;EPP=36.6469;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=39.2412;MQMR=42;NS=1;NUMALT=1;ODDS=1060.2;PAIRED=0.984355;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=23206;QR=14;RO=1;RPL=285;RPP=112.883;RPPR=5.18177;RPR=482;RUN=1;SAF=402;SAP=6.88611;SAR=365;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon43:c.G10118A:p.S3373N,TTN:NM_133432:exon43:c.G10118A:p.S3373N,TTN:NM_133437:exon43:c.G10118A:p.S3373N,TTN:NM_001256850:exon44:c.G10256A:p.S3419N,TTN:NM_001267550:exon44:c.G10256A:p.S3419N,TTN:NM_133378:exon44:c.G10256A:p.S3419N,TTN:NM_133379:exon44:c.G10256A:p.S3419N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9024;esp6500siv2_ea=0.9324;esp6500siv2_all=0.9024;esp6500siv2_ea=0.9324;1000g2015aug_all=0.808906;avsnp147=rs2291310;Kaviar_AF=0.852447;Kaviar_AC=131790;Kaviar_AN=154602;ExAC_ALL=0.8512;ExAC_AFR=0.8450;ExAC_AMR=0.5501;ExAC_EAS=0.7636;ExAC_FIN=0.8853;ExAC_NFE=0.9274;ExAC_OTH=0.8656;ExAC_SAS=0.7891;CLNALLELEID=55747;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.634;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.99;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_pred=N;VEST3_score=0.044;CADD_raw=1.814;CADD_phred=15.07;DANN_score=0.778;fathmm-MKL_coding_score=0.085;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.979;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-3.23;phyloP7way_vertebrate=-0.392;phyloP20way_mammalian=-0.489;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=7.485;GDI_full_10282015=.;dpsi_max_tissue=0.9429;dpsi_zscore=1.487;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8412;gnomAD_exome_AFR=0.8492;gnomAD_exome_AMR=0.5692;gnomAD_exome_ASJ=0.9141;gnomAD_exome_EAS=0.7668;gnomAD_exome_FIN=0.8910;gnomAD_exome_NFE=0.9303;gnomAD_exome_OTH=0.8640;gnomAD_exome_SAS=0.7893;gnomAD_genome_ALL=0.8838;gnomAD_genome_AFR=0.8408;gnomAD_genome_AMR=0.6316;gnomAD_genome_ASJ=0.9205;gnomAD_genome_EAS=0.7832;gnomAD_genome_FIN=0.8872;gnomAD_genome_NFE=0.9313;gnomAD_genome_OTH=0.8969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1967.79,-229.93,0:783:1:767:23206:14 0/1:-935.135,0,-852.864:943:439:483:14333:13075 1/1:-2137.12,-239.966,0:845:6:827:25062:137 1/1:-1358.26,-157.74,0:532:0:524:15840:0 1/1:-2182.82,-250.741,0:865:2:852:25604:72 1/1:-2380.07,-272.711,0:932:2:916:28019:41 1/1:-1955.8,-224.118,0:764:1:753:22943:32 1/1:-2139.08,-246.614,0:837:1:824:25167:21 1/1:-1847.63,-205.247,0:694:1:685:21495:14 1/1:-2289.27,-267.278,0:899:1:889:26852:14 1/1:-1905.49,-222.224,0:760:2:749:22408:57 1/1:-1998.75,-229.334,0:777:1:765:23331:14 1/1:-1946.41,-227.523,0:777:1:759:22858:14 1/1:-1879.58,-221.859,0:748:0:737:21983:0 1/1:-1740.51,-201.751,0:679:1:675:20332:21 1/1:-2505.31,-285.032,0:984:3:970:29181:89 0/1:-720.297,0,-650.601:713:327:370:11138:10132 1/1:-3655.22,-419.034,0:1410:0:1392:42412:0 0/1:-758.312,0,-885.211:823:429:378:11653:13225 1/1:-1639.56,-192.547,0:654:1:641:19274:36 1/1:-1608,-185.133,0:621:0:615:18690:0 0/1:-890.61,0,-1168.98:1019:541:460:13899:17043 1/1:-1305.13,-153.211,0:520:1:512:15550:14 1/1:-2293.16,-262.691,0:894:2:879:26845:28 1/1:-2192.41,-252.494,0:859:2:845:25537:28 1/1:-1802.4,-214.634,0:722:0:713:21398:0 1/1:-1955.97,-223.307,0:754:1:745:22843:14 1/1:-2273.82,-262.444,0:882:1:875:26503:14 1/1:-1750.29,-199.983,0:689:4:676:20455:96 1/1:-1587.24,-183.929,0:618:0:611:18468:0 1/1:-1836.28,-208.897,0:715:1:701:21386:27 1/1:-2830.92,-326.015,0:1098:0:1083:33011:0 1/1:-2002.74,-231.592,0:798:2:781:23675:46 1/1:-681.061,-78.4949,0:267:1:264:7882:14 1/1:-2520.48,-286.28,0:961:0:951:29370:0 1/1:-2130.14,-248.702,0:845:1:826:24950:14 1/1:-677.653,-80.375,0:271:0:267:8002:0 1/1:-2410.39,-272.131,0:917:0:904:27968:0 1/1:-2043.43,-238.378,0:811:1:798:24184:36 1/1:-776.011,-92.7172,0:315:0:308:9096:0 1/1:-2665.09,-301.009,0:1019:1:1003:30964:14 0/1:-623.885,0,-743.525:687:356:319:9798:11044 1/1:-1740.87,-201.827,0:690:1:680:20282:36 1/1:-2102.35,-243.834,0:820:0:810:24790:0 1/1:-3032.37,-345.722,0:1169:1:1158:35357:36 1/1:-2267.43,-257.682,0:869:0:856:26374:0 1/1:-2010.43,-234.492,0:795:1:782:23745:14 1/1:-1139.71,-127.869,0:441:2:431:13262:28 0/1:-743.541,0,-715.212:743:369:361:11204:10962 1/1:-2590.14,-295.009,0:992:0:980:30200:0 1/1:-2042.37,-235.14,0:810:3:797:23862:64 1/1:-1901.65,-227.842,0:771:1:758:22475:14 1/1:-2586.96,-281.836,0:1006:7:982:30331:199 1/1:-2110.56,-246.845,0:833:0:820:24526:0 1/1:-1421.13,-173.092,0:583:0:575:16899:0 1/1:-1668.07,-190.096,0:648:1:640:19496:32 1/1:-2042.89,-234.022,0:807:3:797:24018:78 1/1:-1257.26,-148.709,0:503:0:494:14737:0 1/1:-1594,-184.821,0:635:1:617:18715:14 1/1:-1772.14,-204.7,0:688:0:680:20851:0 1/1:-1394.16,-165.567,0:555:0:550:16490:0 1/1:-2619.75,-291.149,0:1007:3:989:30677:84 1/1:-1604.02,-181.745,0:627:2:618:18713:64 1/1:-1629.8,-189.831,0:656:3:643:19110:56 1/1:-2745.25,-312.516,0:1061:2:1047:32282:41 1/1:-1950.8,-227.579,0:769:0:756:22915:0 1/1:-1326.05,-158.003,0:535:1:526:15784:14 1/1:-2033.53,-234.803,0:794:0:780:23819:0 1/1:-1353.31,-158.101,0:533:1:525:15999:14 1/1:-2120.94,-247.146,0:834:0:821:24467:0 1/1:-1746.36,-194.01,0:677:3:667:20297:91 1/1:-2467.1,-282.328,0:952:1:939:28594:14 1/1:-2376.4,-273.135,0:931:1:913:27740:27 1/1:-1251.24,-154.525,0:538:2:525:14955:46 1/1:-1871.14,-215.236,0:725:0:715:21664:0 1/1:-2094.55,-238.084,0:856:8:830:24920:194 1/1:-2324.4,-267.014,0:894:0:887:27085:0 1/1:-2315.19,-258.152,0:899:3:886:27260:108 1/1:-1501,-173.393,0:589:0:576:17547:0 1/1:-1255.02,-143.745,0:497:1:486:14712:32 1/1:-2206.75,-256.087,0:865:1:856:25988:21 1/1:-2277.02,-262.197,0:882:0:871:26638:0 1/1:-2216.03,-254.523,0:873:2:856:25888:50 1/1:-1842.38,-213.12,0:723:1:711:21566:14 1/1:-1616.32,-192.62,0:662:1:641:19055:14 1/1:-1830.39,-211.323,0:712:0:702:21427:0 1/1:-1976.27,-232.094,0:784:0:771:23128:0 0/1:-898.697,0,-941.058:940:456:465:13719:14176 1/1:-1136.61,-133.958,0:451:0:445:13430:0 1/1:-2223.83,-249.244,0:855:1:835:25996:27 1/1:-2973.31,-348.839,0:1178:1:1162:35007:14 1/1:-1669.36,-194.766,0:661:0:647:19562:0 1/1:-2544.9,-294.106,0:995:0:977:29724:0 1/1:-2003.07,-223.844,0:780:4:768:23558:96 1/1:-2359.67,-272.322,0:923:2:911:27535:28 . 0/1:-724.183,0,-685.626:655:316:333:10565:10085:316,333 . 1/1:-2426.6,-261.294,0:874:0:868:27952:0:0,868 1/1:-987.729,-102.748,0:354:1:351:11469:36:1,351 1/1:-1898.51,-201.023,0:704:3:691:22050:89:3,691 1/1:-2541.89,-272.809,0:920:1:912:29386:32:1,912 1/1:-1837.43,-201.389,0:676:0:669:21210:0:0,669 1/1:-2095.45,-224.064,0:786:4:774:24445:114:4,774 1/1:-2027.25,-222.762,0:745:0:740:23609:0:0,740 1/1:-1695.18,-181.544,0:633:2:622:19708:72:2,622 1/1:-2318.92,-249.554,0:835:0:829:26781:0:0,829 1/1:-1591.44,-169.754,0:589:2:582:18533:68:2,582 1/1:-1730.68,-194.465,0:650:0:646:20025:0:0,646 1/1:-2008.66,-217.645,0:728:0:723:23181:0:0,723 1/1:-1861.52,-204.647,0:693:1:683:21700:14:1,683 1/1:-1863.99,-204.098,0:683:0:678:21528:0:0,678 1/1:-2225.67,-227.255,0:833:9:819:25923:267:9,819 1/1:-2121.3,-228.181,0:773:0:758:24556:0:0,758 1/1:-1816.02,-195.067,0:651:0:648:20998:0:0,648 1/1:-1867.44,-204.399,0:686:0:679:21564:0:0,679 chr2 179629363 . T C 30475.62 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=1179;CIGAR=1X;DP=145666;DPB=1195;DPRA=0;EPP=12.2948;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=37.592;MQMR=3;NS=1;NUMALT=1;ODDS=1633.22;PAIRED=0.929601;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=35059;QR=27;RO=1;RPL=289;RPP=668.267;RPPR=5.18177;RPR=890;RUN=1;SAF=664;SAP=43.8999;SAR=515;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon41:c.A9741G:p.E3247E,TTN:NM_133432:exon41:c.A9741G:p.E3247E,TTN:NM_133437:exon41:c.A9741G:p.E3247E,TTN:NM_001256850:exon42:c.A9879G:p.E3293E,TTN:NM_001267550:exon42:c.A9879G:p.E3293E,TTN:NM_133378:exon42:c.A9879G:p.E3293E,TTN:NM_133379:exon42:c.A9879G:p.E3293E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9703;esp6500siv2_ea=0.9992;esp6500siv2_all=0.9703;esp6500siv2_ea=0.9992;1000g2015aug_all=0.973642;avsnp147=rs4894043;Kaviar_AF=0.971275;Kaviar_AC=150161;Kaviar_AN=154602;ExAC_ALL=0.9921;ExAC_AFR=0.9141;ExAC_AMR=0.9969;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9923;ExAC_SAS=0.9998;CLNALLELEID=56871;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3996;dpsi_zscore=-0.983;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9941;gnomAD_exome_AFR=0.9147;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9967;gnomAD_exome_SAS=0.9998;gnomAD_genome_ALL=0.9744;gnomAD_genome_AFR=0.9105;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 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1/1:-3377.33,-414.509,0:1405:3:1381:40291:42 1/1:-2012.64,-237.742,0:816:3:797:23805:42 1/1:-3293.78,-412.657,0:1405:1:1374:39926:14 1/1:-4240.99,-514.63,0:1762:3:1719:50878:42 1/1:-2843.6,-344.941,0:1165:1:1147:34197:14 1/1:-3816.01,-459.919,0:1568:1:1531:45586:14 1/1:-3182.39,-393.427,0:1339:1:1310:38561:14 1/1:-3298.67,-402.648,0:1384:3:1347:39492:42 . 1/1:-3899.15,-430.774,0:1449:0:1431:45103:0:0,1431 1/1:-3486.98,-386.755,0:1307:2:1291:40624:28:2,1291 1/1:-3898.61,-431.623,0:1460:1:1437:45729:14:1,1437 1/1:-1939.44,-214.333,0:720:0:712:22517:0:0,712 1/1:-3056.68,-335.949,0:1130:0:1116:35552:0:0,1116 1/1:-4025.37,-443.063,0:1492:1:1475:46975:14:1,1475 1/1:-3444.84,-382.609,0:1293:0:1271:40203:0:0,1271 1/1:-3446.55,-386.221,0:1294:0:1283:40263:0:0,1283 1/1:-3516.54,-387.975,0:1310:1:1292:40901:14:1,1292 1/1:-3453.61,-385.92,0:1300:0:1282:40256:0:0,1282 1/1:-3870.71,-423.112,0:1431:1:1411:45109:27:1,1411 1/1:-2690.31,-298.02,0:1001:0:990:31215:0:0,990 1/1:-2884.22,-322.347,0:1081:1:1074:33698:14:1,1074 1/1:-3084.06,-337.621,0:1162:5:1149:36150:127:5,1149 1/1:-3839.26,-428.968,0:1441:0:1425:45124:0:0,1425 1/1:-3150.05,-348.894,0:1170:0:1159:36649:0:0,1159 1/1:-3970.14,-435.289,0:1466:0:1446:46022:0:0,1446 1/1:-3335.27,-368.407,0:1250:1:1227:38889:14:1,1227 1/1:-3122.06,-345.281,0:1167:0:1147:36364:0:0,1147 1/1:-3911.35,-428.422,0:1440:1:1423:45370:14:1,1423 chr2 179629461 . C T 23457.04 . AB=0;ABP=0;AC=220;AF=1;AN=228;AO=1046;CIGAR=1X;DP=124415;DPB=1090;DPRA=0;EPP=27.2245;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=36.848;MQMR=24;NS=1;NUMALT=1;ODDS=1436.74;PAIRED=0.938815;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=29249;QR=50;RO=2;RPL=756;RPP=453.821;RPPR=7.35324;RPR=290;RUN=1;SAF=461;SAP=34.9305;SAR=585;SF=0,1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon41:c.G9643A:p.V3215M,TTN:NM_133432:exon41:c.G9643A:p.V3215M,TTN:NM_133437:exon41:c.G9643A:p.V3215M,TTN:NM_001256850:exon42:c.G9781A:p.V3261M,TTN:NM_001267550:exon42:c.G9781A:p.V3261M,TTN:NM_133378:exon42:c.G9781A:p.V3261M,TTN:NM_133379:exon42:c.G9781A:p.V3261M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.8965;esp6500siv2_ea=0.9322;esp6500siv2_all=0.8965;esp6500siv2_ea=0.9322;1000g2015aug_all=0.804912;avsnp147=rs2291311;Kaviar_AF=0.850164;Kaviar_AC=131437;Kaviar_AN=154602;ExAC_ALL=0.8500;ExAC_AFR=0.8310;ExAC_AMR=0.5504;ExAC_EAS=0.7641;ExAC_FIN=0.8854;ExAC_NFE=0.9273;ExAC_OTH=0.8656;ExAC_SAS=0.7890;CLNALLELEID=56856;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.205;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.871;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.49;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-1.22;PROVEAN_pred=N;VEST3_score=0.334;CADD_raw=2.855;CADD_phred=21.6;DANN_score=0.893;fathmm-MKL_coding_score=0.735;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.82;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.068;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=11.614;GDI_full_10282015=.;dpsi_max_tissue=-0.1609;dpsi_zscore=-0.606;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8401;gnomAD_exome_AFR=0.8333;gnomAD_exome_AMR=0.5691;gnomAD_exome_ASJ=0.9144;gnomAD_exome_EAS=0.7668;gnomAD_exome_FIN=0.8909;gnomAD_exome_NFE=0.9303;gnomAD_exome_OTH=0.8638;gnomAD_exome_SAS=0.7892;gnomAD_genome_ALL=0.8800;gnomAD_genome_AFR=0.8272;gnomAD_genome_AMR=0.6331;gnomAD_genome_ASJ=0.9205;gnomAD_genome_EAS=0.7819;gnomAD_genome_FIN=0.8875;gnomAD_genome_NFE=0.9314;gnomAD_genome_OTH=0.8961;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2403.56,-311.722,0:1090:2:1046:29249:50 0/1:-1180.91,0,-939.059:1225:505:668:18589:15649 1/1:-2622.41,-334.397,0:1179:3:1133:31592:86 1/1:-1594.22,-203.441,0:716:1:679:19212:14 1/1:-2743.22,-352.826,0:1250:2:1190:33282:68 1/1:-3322.3,-429.341,0:1488:1:1431:40072:21 1/1:-2314.71,-301.276,0:1045:1:1004:27760:14 1/1:-2392.96,-308.727,0:1097:3:1035:29148:42 1/1:-2396.7,-304.588,0:1056:2:1021:28738:46 1/1:-2675.37,-347.856,0:1208:1:1161:32110:27 1/1:-2380.19,-306.726,0:1072:2:1029:28663:41 1/1:-2464.47,-313.5,0:1116:5:1060:29628:88 1/1:-2323.53,-300.317,0:1047:2:1004:28157:28 1/1:-1880.55,-252.243,0:898:5:856:23210:83 1/1:-1884.64,-238.62,0:827:2:797:22771:28 1/1:-3715.39,-460.944,0:1646:10:1583:44672:248 0/1:-662.617,0,-653.137:755:346:380:10587:10791 1/1:-4792.99,-618.496,0:2147:4:2062:57272:63 0/1:-921.95,0,-1027.26:1068:512:527:14748:16147 1/1:-1672.39,-219.012,0:772:2:736:20417:35 1/1:-1801.01,-229.385,0:810:4:777:21619:69 0/1:-1107.53,0,-1204.18:1256:602:615:17750:18879 1/1:-1503.87,-202.915,0:730:5:691:18879:102 1/1:-2941.87,-376.777,0:1312:5:1258:35455:88 1/1:-2721.38,-358.226,0:1249:0:1190:32996:0 1/1:-1914.92,-253.578,0:893:2:851:23492:41 1/1:-2676.76,-333.633,0:1161:2:1117:32057:41 1/1:-2914.23,-367.252,0:1293:3:1246:34904:99 1/1:-1762.89,-237.4,0:847:4:804:21732:78 1/1:-1938.5,-244.514,0:853:3:820:23008:55 1/1:-2252.09,-287.044,0:998:1:962:27172:32 1/1:-3207.48,-412.013,0:1410:2:1373:38643:28 1/1:-2715.8,-349.052,0:1226:3:1169:32720:67 1/1:-703.228,-89.0528,0:306:1:299:8340:14 1/1:-2787.53,-360.882,0:1261:2:1208:33448:46 1/1:-2928.69,-378.857,0:1327:5:1277:35656:88 1/1:-864.453,-115.841,0:411:1:388:10568:14 1/1:-2672.36,-339.619,0:1187:3:1142:32160:64 1/1:-2458.69,-321.654,0:1119:1:1078:30117:36 1/1:-1207.03,-152.622,0:523:0:507:14388:0 1/1:-3105.58,-406.616,0:1417:2:1357:37106:28 0/1:-809.715,0,-914.761:966:463:458:12843:14410 1/1:-2525.04,-323.607,0:1114:0:1075:30425:0 1/1:-2691.85,-340.789,0:1181:2:1135:32099:46 1/1:-3149.46,-409.698,0:1452:4:1389:38227:109 1/1:-2370.06,-305.78,0:1060:2:1022:28550:28 1/1:-2556.33,-331.434,0:1138:0:1101:30545:0 1/1:-1596.33,-207.053,0:721:1:691:19106:14 0/1:-810.403,0,-728.839:868:387:457:12665:11836 1/1:-3149.06,-409.947,0:1421:1:1365:38100:14 1/1:-2668.84,-344.24,0:1194:1:1152:32054:32 1/1:-2314.45,-312.863,0:1099:5:1053:28394:77 1/1:-3314.19,-412.798,0:1450:4:1393:39618:87 1/1:-2740.18,-346.292,0:1213:4:1166:32931:107 1/1:-2000.07,-259.748,0:888:2:869:24376:28 1/1:-2012.33,-259.373,0:893:3:869:23880:42 1/1:-2490.94,-314.575,0:1122:4:1066:30026:85 1/1:-1277.47,-175.771,0:629:2:596:15908:68 1/1:-1677.3,-218.146,0:759:2:734:20061:50 1/1:-2246.42,-284.199,0:1007:2:953:27018:46 1/1:-1550.59,-211.004,0:754:3:723:19455:86 1/1:-3286.07,-419.107,0:1454:3:1403:39804:49 1/1:-2246.56,-279.951,0:993:4:954:26789:96 1/1:-1812.12,-233.093,0:849:5:807:21898:130 1/1:-3195.7,-404.457,0:1408:4:1354:38313:56 1/1:-2551.5,-330.82,0:1157:1:1106:30760:27 1/1:-1378.56,-180.598,0:628:1:603:16704:14 1/1:-2454.27,-307.567,0:1079:5:1036:29579:90 1/1:-1941.52,-244.314,0:863:3:821:23246:42 1/1:-2502.47,-325.673,0:1136:1:1083:29883:14 1/1:-2509.18,-327.5,0:1143:1:1091:29842:14 1/1:-3162.11,-386.309,0:1346:3:1299:37074:64 1/1:-3033.73,-390.681,0:1343:1:1301:36476:14 1/1:-1582.61,-228.588,0:817:2:764:20379:53 1/1:-2266.52,-284.727,0:986:2:959:27279:53 1/1:-2746.1,-352.226,0:1271:7:1209:33087:195 1/1:-2550.99,-321.192,0:1135:5:1079:30609:77 1/1:-3052.64,-394.975,0:1389:4:1331:36664:78 1/1:-1692.9,-216.742,0:751:0:720:20124:0 1/1:-1325.54,-174.148,0:615:3:591:16111:56 1/1:-2872.22,-376.547,0:1329:3:1265:34626:68 1/1:-2882.92,-369.585,0:1295:3:1241:34768:55 1/1:-3016.04,-385.254,0:1357:5:1299:36455:101 1/1:-2308.27,-299.141,0:1039:2:996:27760:28 1/1:-1912.07,-247.271,0:860:3:827:23068:60 1/1:-2182.69,-276.595,0:977:4:932:26482:76 1/1:-2000.93,-254.961,0:892:1:850:24066:14 0/1:-1109.97,0,-906.862:1146:484:621:17412:14824 1/1:-1534.98,-194.465,0:668:0:646:18093:0 1/1:-2510.48,-330.9,0:1179:5:1119:30637:83 1/1:-3351.14,-418.401,0:1460:6:1413:40318:106 1/1:-2048.85,-269.121,0:939:0:894:24643:0 1/1:-3014.47,-387.643,0:1353:5:1295:36312:83 1/1:-2451.08,-328.959,0:1143:2:1099:30170:28 1/1:-2650.38,-348.551,0:1199:1:1159:31618:14 . 0/1:-1392.19,0,-1080.33:1188:529:648:20364:16623:529,648 . 1/1:-3438.87,-383.602,0:1304:2:1287:40328:50:2,1287 1/1:-1698.88,-190.251,0:644:0:632:19679:0:0,632 1/1:-2472.29,-282.15,0:963:2:950:28936:50:2,950 1/1:-3766.41,-429.815,0:1449:1:1431:43965:14:1,1431 1/1:-3136.85,-360.581,0:1217:1:1201:36836:14:1,1201 1/1:-3122.69,-342.464,0:1177:4:1162:36469:96:4,1162 1/1:-3021.8,-338.43,0:1157:3:1140:35287:64:3,1140 1/1:-2925.22,-332.864,0:1133:2:1112:34165:28:2,1112 1/1:-3540.79,-398.263,0:1341:0:1323:41079:0:0,1323 1/1:-2491.71,-275.447,0:950:2:933:29083:68:2,933 1/1:-2744.11,-307.841,0:1040:1:1024:32015:36:1,1024 1/1:-2862.1,-323.908,0:1084:0:1076:33423:0:0,1076 1/1:-3542.1,-403.027,0:1359:1:1342:41538:14:1,1342 1/1:-2876.58,-320.898,0:1084:0:1066:33565:0:0,1066 1/1:-3567.13,-400.911,0:1389:4:1357:41564:100:4,1357 1/1:-3015.19,-337.899,0:1145:1:1132:35194:36:1,1132 1/1:-2817,-314.467,0:1071:2:1051:32813:28:2,1051 1/1:-3422.3,-385.619,0:1301:0:1281:39763:0:0,1281 chr2 179631214 . T C 12589.35 . AB=0.521895;ABP=8.81077;AC=10;AF=0.5;AN=18;AO=727;CIGAR=1X;DP=10339;DPB=1393;DPRA=0;EPP=3.03718;EPPR=7.42132;GTI=0;LEN=1;MEANALT=3;MQM=39.5268;MQMR=39.5784;NS=1;NUMALT=1;ODDS=2824.66;PAIRED=0.969739;PAIREDR=0.960815;PAO=0;PQA=0;PQR=0;PRO=0;QA=21202;QR=19336;RO=638;RPL=336;RPP=12.0457;RPPR=6.07351;RPR=391;RUN=1;SAF=380;SAP=6.26303;SAR=347;SF=0,1;SRF=327;SRP=3.88161;SRR=311;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon40:c.A9459G:p.E3153E,TTN:NM_133432:exon40:c.A9459G:p.E3153E,TTN:NM_133437:exon40:c.A9459G:p.E3153E,TTN:NM_001256850:exon41:c.A9597G:p.E3199E,TTN:NM_001267550:exon41:c.A9597G:p.E3199E,TTN:NM_133378:exon41:c.A9597G:p.E3199E,TTN:NM_133379:exon41:c.A9597G:p.E3199E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0736;esp6500siv2_ea=0.0667;esp6500siv2_all=0.0736;esp6500siv2_ea=0.0667;1000g2015aug_all=0.167732;avsnp147=rs2291312;Kaviar_AF=0.135445;Kaviar_AC=20940;Kaviar_AN=154602;ExAC_ALL=0.1419;ExAC_AFR=0.0831;ExAC_AMR=0.4473;ExAC_EAS=0.2368;ExAC_FIN=0.1146;ExAC_NFE=0.0720;ExAC_OTH=0.1267;ExAC_SAS=0.2101;CLNALLELEID=56825;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0315;dpsi_zscore=-0.173;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1536;gnomAD_exome_AFR=0.0812;gnomAD_exome_AMR=0.4279;gnomAD_exome_ASJ=0.0859;gnomAD_exome_EAS=0.2329;gnomAD_exome_FIN=0.1091;gnomAD_exome_NFE=0.0690;gnomAD_exome_OTH=0.1323;gnomAD_exome_SAS=0.2102;gnomAD_genome_ALL=0.0948;gnomAD_genome_AFR=0.0845;gnomAD_genome_AMR=0.3640;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0.2168;gnomAD_genome_FIN=0.1125;gnomAD_genome_NFE=0.0684;gnomAD_genome_OTH=0.1008;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1411.75,0,-1237:1393:638:727:21202:19336 . . . . . . . . . . . . . . 0/1:-944.9,0,-925.418:1023:493:502:14735:14599 . 0/1:-1196.4,0,-1103.31:1185:565:601:18007:16959 . . 0/1:-1376.68,0,-1263.81:1382:662:694:20676:19572 . . . . . . . . . . . . . . . . . . . 0/1:-1013.43,0,-1014.52:1038:511:512:15575:15478 . . . . . . 0/1:-1060.04,0,-1038.38:1078:522:537:16379:15886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1217.34,0,-1262.68:1310:642:631:18850:19353 . . . . . . . . 0/1:-840.649,0,-1065.65:913:498:404:12822:15413:498,404 1/1:-2609.33,-233.818,0:1017:27:979:31037:780:27,979 . . . . . . . . . . . . . . . . . . chr2 179632496 . T C 8434.02 . AB=0.452507;ABP=17.8611;AC=7;AF=0.5;AN=12;AO=343;CIGAR=1X;DP=5082;DPB=758;DPRA=0;EPP=31.4294;EPPR=12.394;GTI=0;LEN=1;MEANALT=3;MQM=38.1778;MQMR=39.9512;NS=1;NUMALT=1;ODDS=1306.05;PAIRED=0.930029;PAIREDR=0.935733;PAO=0;PQA=0;PQR=0;PRO=0;QA=9884;QR=11965;RO=389;RPL=71;RPP=258.782;RPPR=101.754;RPR=272;RUN=1;SAF=169;SAP=3.16857;SAR=174;SF=0,1;SRF=200;SRP=3.68575;SRR=189;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon39:c.A9323G:p.K3108R,TTN:NM_133432:exon39:c.A9323G:p.K3108R,TTN:NM_133437:exon39:c.A9323G:p.K3108R,TTN:NM_001256850:exon40:c.A9461G:p.K3154R,TTN:NM_001267550:exon40:c.A9461G:p.K3154R,TTN:NM_133378:exon40:c.A9461G:p.K3154R,TTN:NM_133379:exon40:c.A9461G:p.K3154R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0384;esp6500siv2_ea=0.0212;esp6500siv2_all=0.0384;esp6500siv2_ea=0.0212;1000g2015aug_all=0.0860623;avsnp147=rs4893853;Kaviar_AF=0.062179;Kaviar_AC=9613;Kaviar_AN=154602;ExAC_ALL=0.0659;ExAC_AFR=0.0731;ExAC_AMR=0.1887;ExAC_EAS=0.0242;ExAC_FIN=0.0572;ExAC_NFE=0.0243;ExAC_OTH=0.0749;ExAC_SAS=0.1681;CLNALLELEID=56812;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.522;SIFT_pred=T;Polyphen2_HDIV_score=0.031;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.026;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.955;MutationAssessor_pred=L;FATHMM_score=-0.34;FATHMM_pred=T;PROVEAN_score=-1.24;PROVEAN_pred=N;VEST3_score=0.09;CADD_raw=1.376;CADD_phred=12.66;DANN_score=0.958;fathmm-MKL_coding_score=0.884;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.005;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=2.14;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=0.141;phastCons7way_vertebrate=0.978;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=10.138;GDI_full_10282015=.;dpsi_max_tissue=-0.7218;dpsi_zscore=-1.287;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0708;gnomAD_exome_AFR=0.0703;gnomAD_exome_AMR=0.1867;gnomAD_exome_ASJ=0.0287;gnomAD_exome_EAS=0.0253;gnomAD_exome_FIN=0.0554;gnomAD_exome_NFE=0.0233;gnomAD_exome_OTH=0.0593;gnomAD_exome_SAS=0.1687;gnomAD_genome_ALL=0.0445;gnomAD_genome_AFR=0.0707;gnomAD_genome_AMR=0.1647;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0278;gnomAD_genome_FIN=0.0524;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0519;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-605.534,0,-802.656:758:389:343:9884:11965 . 0/1:-896.654,0,-923.586:901:439:451:13598:13909 . . . . . . . . . . . . . . . . . . . . . . 0/1:-644.318,0,-796.403:747:373:353:10115:11815 . . . . . . 0/1:-628.725,0,-792.261:704:368:318:9655:11517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-993.036,0,-1034.69:954:477:470:14692:15139:477,470 1/1:-2624.6,-251.322,0:1018:16:979:30968:548:16,979 . . . . . . . . . . . . . . . . . . chr2 179632598 . C T 10767.03 . AB=0.461869;ABP=14.768;AC=4;AF=0.5;AN=8;AO=430;CIGAR=1X;DP=4751;DPB=931;DPRA=0;EPP=42.117;EPPR=60.6559;GTI=0;LEN=1;MEANALT=3;MQM=38.586;MQMR=39.0374;NS=1;NUMALT=1;ODDS=1827.69;PAIRED=0.969767;PAIREDR=0.948025;PAO=0;PQA=0;PQR=0;PRO=0;QA=12948;QR=14970;RO=481;RPL=147;RPP=96.4139;RPPR=97.9276;RPR=283;RUN=1;SAF=272;SAP=68.6393;SAR=158;SF=0,1;SRF=333;SRP=157.519;SRR=148;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon39:c.G9221A:p.R3074Q,TTN:NM_133432:exon39:c.G9221A:p.R3074Q,TTN:NM_133437:exon39:c.G9221A:p.R3074Q,TTN:NM_001256850:exon40:c.G9359A:p.R3120Q,TTN:NM_001267550:exon40:c.G9359A:p.R3120Q,TTN:NM_133378:exon40:c.G9359A:p.R3120Q,TTN:NM_133379:exon40:c.G9359A:p.R3120Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0044;1000g2015aug_all=0.00159744;avsnp147=rs72647894;Kaviar_AF=0.0041655;Kaviar_AC=644;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0007;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0117;ExAC_NFE=0.0054;ExAC_OTH=0.0077;ExAC_SAS=0.0041;CLNALLELEID=56800;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.309;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.771;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.995;MutationTaster_pred=N;MutationAssessor_score=1.27;MutationAssessor_pred=L;FATHMM_score=-0.15;FATHMM_pred=T;PROVEAN_score=-2.42;PROVEAN_pred=N;VEST3_score=0.822;CADD_raw=4.072;CADD_phred=23.7;DANN_score=0.991;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.712;MetaSVM_pred=T;MetaLR_score=0.271;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.9;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=0.931;SiPhy_29way_logOdds=11.209;GDI_full_10282015=.;dpsi_max_tissue=-1.0957;dpsi_zscore=-1.525;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516725#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0097;gnomAD_exome_NFE=0.0055;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0062;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0112;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:-822.233,0,-985.615:931:481:430:12948:14970 . . . . . . . 0/1:-1349.58,0,-1526.27:1401:712:669:20632:22615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1173.85,0,-1311.05:1251:645:588:18066:19816 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1101.35,0,-1326.24:1168:616:533:16550:19351:616,533 . . chr2 179632757 . G A 9061.06 . AB=0.474923;ABP=8.34674;AC=1;AF=0.5;AN=2;AO=464;CIGAR=1X;DP=977;DPB=977;DPRA=0;EPP=36.0317;EPPR=129.025;GTI=0;LEN=1;MEANALT=3;MQM=38.9763;MQMR=39.7309;NS=1;NUMALT=1;ODDS=2086.39;PAIRED=0.991379;PAIREDR=0.98996;PAO=0;PQA=0;PQR=0;PRO=0;QA=14485;QR=16346;RO=498;RPL=304;RPP=100.053;RPPR=72.2358;RPR=160;RUN=1;SAF=162;SAP=94.7363;SAR=302;SF=0;SRF=184;SRP=76.7008;SRR=314;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon38:c.C9151T:p.L3051L,TTN:NM_133432:exon38:c.C9151T:p.L3051L,TTN:NM_133437:exon38:c.C9151T:p.L3051L,TTN:NM_001256850:exon39:c.C9289T:p.L3097L,TTN:NM_001267550:exon39:c.C9289T:p.L3097L,TTN:NM_133378:exon39:c.C9289T:p.L3097L,TTN:NM_133379:exon39:c.C9289T:p.L3097L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs746393028;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.243e-06;ExAC_AFR=0;ExAC_AMR=8.657e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1498;dpsi_zscore=-0.581;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.066e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-936.705,0,-1100.12:977:498:464:14485:16346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179633644 . G C 4881.30 . AB=0.476395;ABP=5.26565;AC=7;AF=0.5;AN=12;AO=222;CIGAR=1X;DP=3349;DPB=466;DPRA=0;EPP=82.2397;EPPR=107.554;GTI=0;LEN=1;MEANALT=3;MQM=39.1396;MQMR=38.5415;NS=1;NUMALT=1;ODDS=873.479;PAIRED=0.995495;PAIREDR=0.9869;PAO=0;PQA=0;PQR=0;PRO=0;QA=6346;QR=6648;RO=229;RPL=133;RPP=21.9471;RPPR=20.5433;RPR=89;RUN=1;SAF=67;SAP=78.7575;SAR=155;SF=0,1;SRF=74;SRP=65.2244;SRR=155;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon37:c.C8781G:p.S2927S,TTN:NM_133432:exon37:c.C8781G:p.S2927S,TTN:NM_133437:exon37:c.C8781G:p.S2927S,TTN:NM_001256850:exon38:c.C8919G:p.S2973S,TTN:NM_001267550:exon38:c.C8919G:p.S2973S,TTN:NM_133378:exon38:c.C8919G:p.S2973S,TTN:NM_133379:exon38:c.C8919G:p.S2973S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0388;esp6500siv2_ea=0.0215;esp6500siv2_all=0.0388;esp6500siv2_ea=0.0215;1000g2015aug_all=0.0866613;avsnp147=rs4894045;Kaviar_AF=0.062192;Kaviar_AC=9615;Kaviar_AN=154602;ExAC_ALL=0.0660;ExAC_AFR=0.0724;ExAC_AMR=0.1883;ExAC_EAS=0.0242;ExAC_FIN=0.0571;ExAC_NFE=0.0243;ExAC_OTH=0.0730;ExAC_SAS=0.1690;CLNALLELEID=56735;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8597;dpsi_zscore=1.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0708;gnomAD_exome_AFR=0.0698;gnomAD_exome_AMR=0.1865;gnomAD_exome_ASJ=0.0288;gnomAD_exome_EAS=0.0253;gnomAD_exome_FIN=0.0553;gnomAD_exome_NFE=0.0233;gnomAD_exome_OTH=0.0594;gnomAD_exome_SAS=0.1691;gnomAD_genome_ALL=0.0444;gnomAD_genome_AFR=0.0707;gnomAD_genome_AMR=0.1651;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0266;gnomAD_genome_FIN=0.0522;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0520;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-404.375,0,-423.512:466:229:222:6346:6648 . 0/1:-442.85,0,-640.93:575:312:247:7017:9376 . . . . . . . . . . . . . . . . . . . . . . 0/1:-371.375,0,-594.642:511:286:215:6029:8573 . . . . . . 0/1:-397.561,0,-626.683:562:310:237:6466:9214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-623.388,0,-620.8:612:301:302:9294:9163:301,302 1/1:-1549.71,-157.904,0:623:10:601:18106:304:10,601 . . . . . . . . . . . . . . . . . . chr2 179634374 . GTGTATATATATATATATATTTTTTAAC GTGTATATATATATATATATTTTAAC,GTGTATATATATATATATTTTTTAAC,GTGTATATATATATATTTTTTTTAAC,ATGTGTATATATATATATATTTTTTAAC,ATGTGTATATATATATATTTTTTTTAAC 4403.26 . AB=0.399267,0.230769;ABP=27.0715,174.891;AC=1,20,7,11,1;AF=0.5,0.5;AN=40;AO=109,63;CIGAR=19M2D7M,3M2D23M;DP=6935;DPB=255.071;DPRA=0,0;EPP=7.4927,12.9715;EPPR=0;GTI=0;LEN=2,2;MEANALT=39,39;MQM=39.9633,41.4921;MQMR=0;NS=1;NUMALT=2;ODDS=151.599;PAIRED=0.963303,0.984127;PAIREDR=0;PAO=1,1;PQA=27.4,27.4;PQR=27.4;PRO=1;QA=2793,1565;QR=0;RO=0;RPL=14,21;RPP=133.717,18.2106;RPPR=0;RPR=95,42;RUN=1,1;SAF=76,44;SAP=39.8456,24.5527;SAR=33,19;SF=1;SRF=0;SRP=0;SRR=0;TYPE=del,del;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs776450696;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=499707;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs10596477;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.8027;ExAC_AFR=0.7621;ExAC_AMR=0.8478;ExAC_EAS=0.6606;ExAC_FIN=0.8886;ExAC_NFE=0.8331;ExAC_OTH=0.7914;ExAC_SAS=0.7108;CLNALLELEID=199685;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8753;gnomAD_exome_AFR=0.8543;gnomAD_exome_AMR=0.9050;gnomAD_exome_ASJ=0.8912;gnomAD_exome_EAS=0.7043;gnomAD_exome_FIN=0.9119;gnomAD_exome_NFE=0.8973;gnomAD_exome_OTH=0.8961;gnomAD_exome_SAS=0.8310;gnomAD_genome_ALL=0.8544;gnomAD_genome_AFR=0.8019;gnomAD_genome_AMR=0.8733;gnomAD_genome_ASJ=0.9161;gnomAD_genome_EAS=0.6780;gnomAD_genome_FIN=0.9146;gnomAD_genome_NFE=0.8838;gnomAD_genome_OTH=0.8913;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs786200994;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=178133;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/2:-325.194,-119.774,-79.4361,-212.953,0,-186.462,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:273:0:109,63,.,.,.:2793,1565,.,.,.:0:0,109,63 4/2:-613.432,.,.,-195.561,.,-138.136,.,.,.,.,-412.43,.,0,.,-393.536,.,.,.,.,.,.:367:4:.,213,.,83,.:.,5509,.,2601,.:119:4,83,213 3/2:-419.474,.,.,-240.02,.,-214.773,-179.718,.,0,-140.323,.,.,.,.,.,.,.,.,.,.,.:360:4:.,87,134,.,.:.,2450,3291,.,.:126:4,134,87 4/2:-314.827,.,.,-70.1285,.,-56.9193,.,.,.,.,-222.716,.,0,.,-235.692,.,.,.,.,.,.:226:10:.,127,.,33,.:.,3244,.,1113,.:327:10,33,127 4/2:-649,.,.,-163.573,.,-103.674,.,.,.,.,-473.415,.,0,.,-463.428,.,.,.,.,.,.:399:7:.,246,.,70,.:.,6384,.,2186,.:228:7,70,246 4/2:-731.359,.,.,-194.838,.,-126.611,.,.,.,.,-525.314,.,0,.,-511.797,.,.,.,.,.,.:460:7:.,271,.,83,.:.,7080,.,2675,.:225:7,83,271 4/2:-500.737,.,.,-126.112,.,-73.0311,.,.,.,.,-371.16,.,0,.,-359.619,.,.,.,.,.,.:299:3:.,191,.,52,.:.,4960,.,1679,.:101:3,52,191 3/2:-419.001,.,.,-199.959,.,-168.357,-219.94,.,0,-188.939,.,.,.,.,.,.,.,.,.,.,.:386:2:.,107,105,.,.:.,2900,2675,.,.:69:2,105,107 4/2:-615.995,.,.,-157.447,.,-95.6022,.,.,.,.,-450.587,.,0,.,-437.81,.,.,.,.,.,.:394:4:.,236,.,67,.:.,6022,.,2063,.:131:4,67,236 5/3:-507.679,.,.,.,.,.,-137.337,.,.,-72.3148,.,.,.,.,.,-372.187,.,.,0,.,-352.921:338:0:.,.,210,.,58:.,.,4943,.,1774:0:0,58,210 4/2:-524.05,.,.,-117.82,.,-66.4887,.,.,.,.,-399.498,.,0,.,-390.836,.,.,.,.,.,.:322:4:.,197,.,49,.:.,5323,.,1568,.:127:4,49,197 3/2:-407.418,.,.,-208.943,.,-179.163,-197.242,.,0,-165.355,.,.,.,.,.,.,.,.,.,.,.:325:2:.,105,112,.,.:.,2624,2786,.,.:67:2,112,105 4/2:-542.076,.,.,-168.149,.,-114.832,.,.,.,.,-369.484,.,0,.,-353.193,.,.,.,.,.,.:338:2:.,194,.,69,.:.,4889,.,2196,.:64:2,69,194 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GTATATATATATATATAT GTATATATATATATTT,GTATATATATATATAT,GTGTATATATATATATAT,GTGTATATATATATATTT 4561.54 . 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1/4:-628.373,-230.349,-119.654,.,.,.,.,.,.,.,-431.182,0,.,.,-370.727:455:1:273,.,.,105:5935,.,.,3112:22 1/1:-871.049,-120.865,0,.,.,.,.,.,.,.,.,.,.,.,.:548:2:340,.,.,.:7758,.,.,.:60 1/2:-443.425,-220.834,-167.163,-233.695,0,-185.864,.,.,.,.,.,.,.,.,.:361:3:123,103,.,.:2711,2342,.,.:89 2/3:-684.755,.,.,-230.633,.,-97.5553,-505.381,.,0,-426.164,.,.,.,.,.:497:13:.,294,110,.:.,7095,3278,.:382 2/2:-453.573,.,.,-122.012,.,0,.,.,.,.,.,.,.,.,.:354:5:.,219,.,.:.,5355,.,.:152 2/2:-641.372,.,.,-98.1467,.,0,.,.,.,.,.,.,.,.,.:471:11:.,289,.,.:.,6922,.,.:347 . . . . . . . . . . . . . . . . . . . . . chr2 179634839 . T C 5323.36 . AB=0.494275;ABP=3.15949;AC=1;AF=0.5;AN=2;AO=259;CIGAR=1X;DP=524;DPB=524;DPRA=0;EPP=24.8172;EPPR=32.1952;GTI=0;LEN=1;MEANALT=3;MQM=39.8842;MQMR=39.471;NS=1;NUMALT=1;ODDS=1162.57;PAIRED=0.953668;PAIREDR=0.945946;PAO=0;PQA=0;PQR=0;PRO=0;QA=8292;QR=8055;RO=259;RPL=83;RPP=75.5241;RPPR=95.4446;RPR=176;RUN=1;SAF=164;SAP=42.9268;SAR=95;SF=1;SRF=168;SRP=52.7194;SRR=91;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.A8451G:p.E2817E,TTN:NM_133432:exon35:c.A8451G:p.E2817E,TTN:NM_133437:exon35:c.A8451G:p.E2817E,TTN:NM_001256850:exon36:c.A8589G:p.E2863E,TTN:NM_001267550:exon36:c.A8589G:p.E2863E,TTN:NM_133378:exon36:c.A8589G:p.E2863E,TTN:NM_133379:exon36:c.A8589G:p.E2863E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=.;avsnp147=rs72647883;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=173452;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0698;dpsi_zscore=-0.347;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0058;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=9.682e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-553.303,0,-529.703:524:259:259:8292:8055:259,259 . . . . . . . . . . . . . . . . . . chr2 179634936 . C T 8043.36 . AB=0.493545;ABP=3.37473;AC=3;AF=0.5;AN=6;AO=497;CIGAR=1X;DP=2863;DPB=1007;DPRA=0;EPP=11.8578;EPPR=8.11238;GTI=0;LEN=1;MEANALT=3;MQM=37.7887;MQMR=38.5102;NS=1;NUMALT=1;ODDS=2037.46;PAIRED=0.94165;PAIREDR=0.965447;PAO=0;PQA=0;PQR=0;PRO=0;QA=14305;QR=15447;RO=492;RPL=277;RPP=17.2057;RPPR=4.77572;RPR=220;RUN=1;SAF=267;SAP=8.99168;SAR=230;SF=0;SRF=293;SRP=42.0085;SRR=199;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.G8354A:p.S2785N,TTN:NM_133432:exon35:c.G8354A:p.S2785N,TTN:NM_133437:exon35:c.G8354A:p.S2785N,TTN:NM_001256850:exon36:c.G8492A:p.S2831N,TTN:NM_001267550:exon36:c.G8492A:p.S2831N,TTN:NM_133378:exon36:c.G8492A:p.S2831N,TTN:NM_133379:exon36:c.G8492A:p.S2831N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0344;esp6500siv2_ea=0.0451;esp6500siv2_all=0.0344;esp6500siv2_ea=0.0451;1000g2015aug_all=0.08127;avsnp147=rs2306636;Kaviar_AF=0.0730327;Kaviar_AC=11291;Kaviar_AN=154602;ExAC_ALL=0.0759;ExAC_AFR=0.0105;ExAC_AMR=0.2591;ExAC_EAS=0.2099;ExAC_FIN=0.0575;ExAC_NFE=0.0476;ExAC_OTH=0.0518;ExAC_SAS=0.0422;CLNALLELEID=56691;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=1.06;FATHMM_pred=T;PROVEAN_score=3.24;PROVEAN_pred=N;VEST3_score=0.303;CADD_raw=2.325;CADD_phred=18.33;DANN_score=0.940;fathmm-MKL_coding_score=0.342;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=12.356;GDI_full_10282015=.;dpsi_max_tissue=0.1891;dpsi_zscore=0.701;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0825;gnomAD_exome_AFR=0.0109;gnomAD_exome_AMR=0.2413;gnomAD_exome_ASJ=0.0568;gnomAD_exome_EAS=0.2047;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0455;gnomAD_exome_OTH=0.0726;gnomAD_exome_SAS=0.0413;gnomAD_genome_ALL=0.0498;gnomAD_genome_AFR=0.0133;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.1853;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0457;gnomAD_genome_OTH=0.0490;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-895.698,0,-989.781:1007:492:497:14305:15447 . . . . . . . . . . . . . . . . . . . 0/1:-808.466,0,-1138.65:975:532:429:12938:16688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-752.304,0,-973.391:881:469:393:11839:14604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179634961 . C A 7650.09 . AB=0.467901;ABP=10.2593;AC=5;AF=0.5;AN=10;AO=379;CIGAR=1X;DP=4618;DPB=810;DPRA=0;EPP=14.6125;EPPR=16.7524;GTI=0;LEN=1;MEANALT=3;MQM=38.2876;MQMR=38.7956;NS=1;NUMALT=1;ODDS=1504.91;PAIRED=0.963061;PAIREDR=0.970803;PAO=0;PQA=0;PQR=0;PRO=0;QA=10776;QR=12257;RO=411;RPL=208;RPP=10.854;RPPR=17.8513;RPR=171;RUN=1;SAF=231;SAP=42.4807;SAR=148;SF=0,1;SRF=230;SRP=15.6957;SRR=181;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.G8329T:p.V2777F,TTN:NM_133432:exon35:c.G8329T:p.V2777F,TTN:NM_133437:exon35:c.G8329T:p.V2777F,TTN:NM_001256850:exon36:c.G8467T:p.V2823F,TTN:NM_001267550:exon36:c.G8467T:p.V2823F,TTN:NM_133378:exon36:c.G8467T:p.V2823F,TTN:NM_133379:exon36:c.G8467T:p.V2823F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0220;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0220;1000g2015aug_all=0.00758786;avsnp147=rs33917087;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;ExAC_ALL=0.0144;ExAC_AFR=0.0023;ExAC_AMR=0.0074;ExAC_EAS=0.0002;ExAC_FIN=0.0242;ExAC_NFE=0.0212;ExAC_OTH=0.0198;ExAC_SAS=0.0027;CLNALLELEID=56687;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=D;MutationAssessor_score=2.33;MutationAssessor_pred=M;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-3.22;PROVEAN_pred=D;VEST3_score=0.514;CADD_raw=2.904;CADD_phred=21.9;DANN_score=0.943;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.006;MetaSVM_pred=T;MetaLR_score=0.349;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.857;SiPhy_29way_logOdds=20.628;GDI_full_10282015=.;dpsi_max_tissue=-0.0889;dpsi_zscore=-0.415;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0144;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0042;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0242;gnomAD_exome_NFE=0.0222;gnomAD_exome_OTH=0.0151;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0156;gnomAD_genome_AFR=0.0034;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0186;gnomAD_genome_NFE=0.0231;gnomAD_genome_OTH=0.0234;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-667.479,0,-799.343:810:411:379:10776:12257 . . . . . . . . . . . . . . . . . . 0/1:-1043.01,0,-1005.84:1124:528:586:16235:15812 . . . . . . . . . . . . . . . . . . 0/1:-741.572,0,-1110.08:997:546:437:12214:16442 . . . . . . . . . . 0/1:-954.15,0,-1224.73:1202:629:561:15454:18621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-450.667,0,-558.648:485:252:233:6935:8095:252,233 . . . . . . chr2 179635919 . C T 4511.69 . AB=0.497664;ABP=3.03059;AC=11;AF=0.5;AN=20;AO=213;CIGAR=1X;DP=4667;DPB=428;DPRA=0;EPP=51.5473;EPPR=54.962;GTI=0;LEN=1;MEANALT=3;MQM=37.6385;MQMR=39.8291;NS=1;NUMALT=1;ODDS=756.09;PAIRED=0.971831;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5965;QR=5561;RO=199;RPL=88;RPP=16.9669;RPPR=6.9495;RPR=125;RUN=1;SAF=160;SAP=119.729;SAR=53;SF=0,1;SRF=155;SRP=137.456;SRR=44;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0264;esp6500siv2_ea=0.0377;esp6500siv2_all=0.0264;esp6500siv2_ea=0.0377;1000g2015aug_all=0.0155751;avsnp147=rs13011633;Kaviar_AF=0.0257371;Kaviar_AC=3979;Kaviar_AN=154602;ExAC_ALL=0.0252;ExAC_AFR=0.0039;ExAC_AMR=0.0203;ExAC_EAS=0.0002;ExAC_FIN=0.0281;ExAC_NFE=0.0360;ExAC_OTH=0.0396;ExAC_SAS=0.0090;CLNALLELEID=141528;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2099;dpsi_zscore=0.742;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0248;gnomAD_exome_AFR=0.0041;gnomAD_exome_AMR=0.0211;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0283;gnomAD_exome_NFE=0.0369;gnomAD_exome_OTH=0.0325;gnomAD_exome_SAS=0.0083;gnomAD_genome_ALL=0.0232;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0418;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0218;gnomAD_genome_NFE=0.0349;gnomAD_genome_OTH=0.0337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-382.084,0,-355.454:428:199:213:5965:5561 . . . . . . . . . . . . . . . . . . 0/1:-548.559,0,-533.531:617:294:308:8593:8337 . . . . . 0/1:-447.008,0,-423.495:499:236:247:6982:6666 . . . . . . . . . 0/1:-199.727,0,-246.435:275:138:126:3328:3865 . . 0/1:-352.751,0,-411.357:443:220:211:5801:6261 . . . . . . . . . . 0/1:-466.247,0,-481.253:531:257:258:7209:7565 . . . . . 0/1:-437.267,0,-340.967:422:190:225:6591:5395 . . . . . . . . . . . . . . . . . . . . . 0/1:-415.938,0,-407.966:498:241:239:6537:6568 1/1:-1396.38,-139.32,0:631:22:597:17042:533 . . . . . . . . . . . . . . . . . . 0/1:-328.726,0,-330.141:323:159:156:5035:4980:159,156 . . . . . . chr2 179637861 . C G 4660.33 . AB=0.456942;ABP=12.1732;AC=2;AF=0.5;AN=4;AO=260;CIGAR=1X;DP=1187;DPB=569;DPRA=0;EPP=4.21296;EPPR=3.04025;GTI=0;LEN=1;MEANALT=3;MQM=40.3192;MQMR=40.0483;NS=1;NUMALT=1;ODDS=1048.14;PAIRED=0.996154;PAIREDR=0.982759;PAO=0;PQA=0;PQR=0;PRO=0;QA=7455;QR=8433;RO=290;RPL=112;RPP=13.8343;RPPR=6.63441;RPR=148;RUN=1;SAF=202;SAP=176.194;SAR=58;SF=0;SRF=218;SRP=162.621;SRR=72;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon32:c.G7692C:p.M2564I,TTN:NM_133432:exon32:c.G7692C:p.M2564I,TTN:NM_133437:exon32:c.G7692C:p.M2564I,TTN:NM_001256850:exon33:c.G7830C:p.M2610I,TTN:NM_001267550:exon33:c.G7830C:p.M2610I,TTN:NM_133378:exon33:c.G7830C:p.M2610I,TTN:NM_133379:exon33:c.G7830C:p.M2610I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.033;esp6500siv2_ea=0.0433;esp6500siv2_all=0.033;esp6500siv2_ea=0.0433;1000g2015aug_all=0.0754792;avsnp147=rs56142888;Kaviar_AF=0.068796;Kaviar_AC=10636;Kaviar_AN=154602;ExAC_ALL=0.0714;ExAC_AFR=0.0102;ExAC_AMR=0.2572;ExAC_EAS=0.2074;ExAC_FIN=0.0573;ExAC_NFE=0.0458;ExAC_OTH=0.0489;ExAC_SAS=0.0183;CLNALLELEID=56615;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_pred=T;PROVEAN_score=-1.26;PROVEAN_pred=N;VEST3_score=0.387;CADD_raw=1.057;CADD_phred=10.98;DANN_score=0.920;fathmm-MKL_coding_score=0.853;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=4.71;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.077;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=4.003;GDI_full_10282015=.;dpsi_max_tissue=-1.5529;dpsi_zscore=-1.739;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0782;gnomAD_exome_AFR=0.0107;gnomAD_exome_AMR=0.2400;gnomAD_exome_ASJ=0.0484;gnomAD_exome_EAS=0.2023;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0442;gnomAD_exome_OTH=0.0697;gnomAD_exome_SAS=0.0185;gnomAD_genome_ALL=0.0490;gnomAD_genome_AFR=0.0129;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1855;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0481;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-482.4,0,-563.52:569:290:260:7455:8433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-503.662,0,-624.534:618:324:269:7934:9266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179638238 . G A 11903.76 . AB=0.497462;ABP=3.05439;AC=35;AF=0.5;AN=62;AO=392;CIGAR=1X;DP=32231;DPB=788;DPRA=0;EPP=5.22609;EPPR=7.44372;GTI=0;LEN=1;MEANALT=3;MQM=40.1633;MQMR=39.5234;NS=1;NUMALT=1;ODDS=1782.96;PAIRED=0.966837;PAIREDR=0.9375;PAO=0;PQA=0;PQR=0;PRO=0;QA=11796;QR=12009;RO=384;RPL=169;RPP=19.1634;RPPR=27.6429;RPR=223;RUN=1;SAF=207;SAP=5.6914;SAR=185;SF=0,1;SRF=191;SRP=3.03292;SRR=193;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon31:c.C7407T:p.Y2469Y,TTN:NM_133432:exon31:c.C7407T:p.Y2469Y,TTN:NM_133437:exon31:c.C7407T:p.Y2469Y,TTN:NM_001256850:exon32:c.C7545T:p.Y2515Y,TTN:NM_001267550:exon32:c.C7545T:p.Y2515Y,TTN:NM_133378:exon32:c.C7545T:p.Y2515Y,TTN:NM_133379:exon32:c.C7545T:p.Y2515Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1018;esp6500siv2_ea=0.1147;esp6500siv2_all=0.1018;esp6500siv2_ea=0.1147;1000g2015aug_all=0.0754792;avsnp147=rs2291306;Kaviar_AF=0.0923533;Kaviar_AC=14278;Kaviar_AN=154602;ExAC_ALL=0.0915;ExAC_AFR=0.0778;ExAC_AMR=0.0436;ExAC_EAS=0.0230;ExAC_FIN=0.0926;ExAC_NFE=0.1080;ExAC_OTH=0.0892;ExAC_SAS=0.1023;CLNALLELEID=56585;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0152;dpsi_zscore=-0.073;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0906;gnomAD_exome_AFR=0.0762;gnomAD_exome_AMR=0.0463;gnomAD_exome_ASJ=0.0713;gnomAD_exome_EAS=0.0222;gnomAD_exome_FIN=0.0994;gnomAD_exome_NFE=0.1125;gnomAD_exome_OTH=0.0912;gnomAD_exome_SAS=0.1048;gnomAD_genome_ALL=0.0942;gnomAD_genome_AFR=0.0782;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.0254;gnomAD_genome_FIN=0.0982;gnomAD_genome_NFE=0.1134;gnomAD_genome_OTH=0.0980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-784.182,0,-787.59:788:384:392:11796:12009 . 1/1:-3279.81,-364.808,0:1312:12:1292:38453:327 . 0/1:-1088.97,0,-1316.1:1222:634:574:16937:19615 . 0/1:-989.292,0,-1401.36:1195:654:515:15648:20499 . . . . . . 0/1:-769.601,0,-766.86:805:390:401:11807:11792 . 0/1:-983.563,0,-1079:1045:517:513:15240:16264 . 0/1:-764.005,0,-989.777:889:467:406:12028:14600 . . 0/1:-1321.48,0,-1310.28:1331:650:666:20073:19892 . . . . . 0/1:-797.957,0,-700.019:753:343:401:11926:10875 0/1:-1035.84,0,-944.48:992:459:522:15541:14448 . . . 0/1:-981.937,0,-1265.82:1125:604:506:15364:18847 0/1:-1104.75,0,-1283.18:1231:637:575:17041:19357 . . . . 0/1:-1278.19,0,-1298.45:1301:632:655:19311:19644 0/1:-863.128,0,-1145.91:997:536:449:13602:16754 0/1:-1058.32,0,-993.662:1037:486:537:15929:15067 0/1:-1066.28,0,-1030.32:1060:508:544:16094:15918 . . 0/1:-1032.18,0,-1014.06:1022:492:516:15710:15396 . . . . . . . . . 0/1:-1122.91,0,-1157.28:1150:564:574:17011:17533 . . . 0/1:-697.046,0,-825.886:806:418:364:10830:12660 . 0/1:-869.499,0,-899.251:882:434:434:13209:13396 . . . . . . . . . . . . 0/1:-1087.85,0,-1455.22:1293:684:584:17247:21293 1/1:-2868.17,-290.961,0:1170:21:1139:33856:672 . . 0/1:-568.039,0,-809.783:695:389:293:8969:11839 . 0/1:-1199.91,0,-1255.85:1219:608:594:18112:18955 . 0/1:-886.044,0,-1127.88:993:534:451:13884:16573 . . . . . . . . . 0/1:-982.054,0,-1299.92:1152:615:524:15474:19015 . . . . . . . . . . . . 0/1:-1028.12,0,-1112.62:1012:521:486:15267:16489:521,486 . . . 0/1:-994.807,0,-1138.86:1005:523:475:14813:16671:523,475 1/1:-2515.32,-249.323,0:985:17:961:29613:509:17,961 0/1:-970.346,0,-1027.61:948:469:466:14443:15096:469,466 . 1/1:-2141.69,-205.943,0:816:15:796:25141:451:15,796 . chr2 179638314 . CGGT CGC 7892.16 . AB=0.400456;ABP=116.277;AC=1;AF=0.5;AN=2;AO=527;CIGAR=1M1D1M1X;DP=1316;DPB=1197.5;DPRA=0;EPP=6.0141;EPPR=12.2382;GTI=0;LEN=2;MEANALT=31;MQM=37.4535;MQMR=40.475;NS=1;NUMALT=1;ODDS=1817.24;PAIRED=0.963947;PAIREDR=0.972769;PAO=24.5;PQA=770.5;PQR=701.5;PRO=23.5;QA=13785;QR=20340;RO=661;RPL=216;RPP=40.1973;RPPR=9.66269;RPR=311;RUN=1;SAF=279;SAP=6.97004;SAR=248;SF=0;SRF=317;SRP=5.40516;SRR=344;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_substitution;AAChange.refGene=TTN:NM_003319:exon31:c.7328_7329G,TTN:NM_133432:exon31:c.7328_7329G,TTN:NM_133437:exon31:c.7328_7329G,TTN:NM_001256850:exon32:c.7466_7467G,TTN:NM_001267550:exon32:c.7466_7467G,TTN:NM_133378:exon32:c.7466_7467G,TTN:NM_133379:exon32:c.7466_7467G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-804.943,0,-1411.49:1316:661:527:13785:20340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179638721 . C T 10953.03 . AB=0.439294;ABP=32.0112;AC=7;AF=0.5;AN=12;AO=398;CIGAR=1X;DP=6639;DPB=906;DPRA=0;EPP=23.983;EPPR=8.63409;GTI=0;LEN=1;MEANALT=3;MQM=38.1709;MQMR=37.8879;NS=1;NUMALT=1;ODDS=1586.34;PAIRED=0.947236;PAIREDR=0.97463;PAO=0;PQA=0;PQR=0;PRO=0;QA=11402;QR=13714;RO=473;RPL=190;RPP=4.77803;RPPR=14.0329;RPR=208;RUN=1;SAF=198;SAP=3.03212;SAR=200;SF=0,1;SRF=231;SRP=3.56579;SRR=242;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon30:c.G7036A:p.G2346S,TTN:NM_133432:exon30:c.G7036A:p.G2346S,TTN:NM_133437:exon30:c.G7036A:p.G2346S,TTN:NM_001256850:exon31:c.G7174A:p.G2392S,TTN:NM_001267550:exon31:c.G7174A:p.G2392S,TTN:NM_133378:exon31:c.G7174A:p.G2392S,TTN:NM_133379:exon31:c.G7174A:p.G2392S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0468;esp6500siv2_ea=0.0221;esp6500siv2_all=0.0468;esp6500siv2_ea=0.0221;1000g2015aug_all=0.0874601;avsnp147=rs4894048;Kaviar_AF=0.0620238;Kaviar_AC=9589;Kaviar_AN=154602;ExAC_ALL=0.0653;ExAC_AFR=0.0952;ExAC_AMR=0.1909;ExAC_EAS=0.0179;ExAC_FIN=0.0575;ExAC_NFE=0.0248;ExAC_OTH=0.0694;ExAC_SAS=0.1502;CLNALLELEID=56542;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.039;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.877;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.907;MutationTaster_pred=P;MutationAssessor_score=3.065;MutationAssessor_pred=M;FATHMM_score=-1.54;FATHMM_pred=D;PROVEAN_score=-3.57;PROVEAN_pred=D;VEST3_score=0.144;CADD_raw=2.444;CADD_phred=19.10;DANN_score=0.938;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.660;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.86;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.889;SiPhy_29way_logOdds=15.039;GDI_full_10282015=.;dpsi_max_tissue=-0.4225;dpsi_zscore=-1.009;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0703;gnomAD_exome_AFR=0.0936;gnomAD_exome_AMR=0.1886;gnomAD_exome_ASJ=0.0330;gnomAD_exome_EAS=0.0188;gnomAD_exome_FIN=0.0562;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0599;gnomAD_exome_SAS=0.1519;gnomAD_genome_ALL=0.0505;gnomAD_genome_AFR=0.0921;gnomAD_genome_AMR=0.1683;gnomAD_genome_ASJ=0.0233;gnomAD_genome_EAS=0.0223;gnomAD_genome_FIN=0.0539;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0509;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-700.385,0,-880.678:906:473:398:11402:13714 . 0/1:-853.148,0,-1090.89:1044:545:472:13710:16616 . . . . . . . . . . . . . . . . . . . . . . 0/1:-828.488,0,-983.423:965:496:448:13121:14877 . . . . . . 0/1:-992.468,0,-819.089:1001:452:517:15378:13241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1166.27,0,-1492.44:1327:723:581:18085:21943:723,581 1/1:-3560.89,-309.794,0:1396:41:1339:42414:1269:41,1339 . . . . . . . . . . . . . . . . . . chr2 179638854 . G A 2251.80 . AB=0.47;ABP=5.35549;AC=1;AF=0.5;AN=2;AO=141;CIGAR=1X;DP=300;DPB=300;DPRA=0;EPP=5.61299;EPPR=11.028;GTI=0;LEN=1;MEANALT=2;MQM=35.8156;MQMR=36.5385;NS=1;NUMALT=1;ODDS=518.497;PAIRED=0.978723;PAIREDR=0.987179;PAO=0;PQA=0;PQR=0;PRO=0;QA=4012;QR=4783;RO=156;RPL=74;RPP=3.76493;RPPR=3.0103;RPR=67;RUN=1;SAF=73;SAP=3.39531;SAR=68;SF=0;SRF=80;SRP=3.23302;SRR=76;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs572098454;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=9.923e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3896;dpsi_zscore=1.010;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.543e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-232.571,0,-299.212:300:156:141:4012:4783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179639143 . GA TT 1865.92 . AB=0.468619;ABP=5.05457;AC=1;AF=0.5;AN=2;AO=112;CIGAR=2X;DP=239;DPB=240;DPRA=0;EPP=51.4807;EPPR=7.95168;GTI=0;LEN=2;MEANALT=1;MQM=39.9911;MQMR=40.5591;NS=1;NUMALT=1;ODDS=429.644;PAIRED=0.973214;PAIREDR=0.92126;PAO=2;PQA=35;PQR=0;PRO=0;QA=3422;QR=3935;RO=127;RPL=89;RPP=87.4651;RPPR=12.0553;RPR=23;RUN=1;SAF=8;SAP=181.691;SAR=104;SF=1;SRF=3;SRP=253.345;SRR=124;TYPE=mnp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=TTN:NM_003319:exon29:c.6709_6710AA,TTN:NM_133432:exon29:c.6709_6710AA,TTN:NM_133437:exon29:c.6709_6710AA,TTN:NM_001256850:exon30:c.6847_6848AA,TTN:NM_001267550:exon30:c.6847_6848AA,TTN:NM_133378:exon30:c.6847_6848AA,TTN:NM_133379:exon30:c.6847_6848AA;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-227.425,0,-269.215:239:127:112:3422:3935:127,112 . chr2 179640598 . C T 9917.56 . AB=0.472393;ABP=10.5638;AC=1;AF=0.5;AN=2;AO=539;CIGAR=1X;DP=1141;DPB=1141;DPRA=0;EPP=72.1469;EPPR=43.6402;GTI=0;LEN=1;MEANALT=3;MQM=37.8126;MQMR=38.3422;NS=1;NUMALT=1;ODDS=2283.6;PAIRED=0.96475;PAIREDR=0.973545;PAO=0;PQA=0;PQR=0;PRO=0;QA=16605;QR=17674;RO=567;RPL=147;RPP=244.833;RPPR=232.891;RPR=392;RUN=1;SAF=352;SAP=112.692;SAR=187;SF=0;SRF=372;SRP=122.993;SRR=195;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G5855A:p.R1952H,TTN:NM_133432:exon27:c.G5855A:p.R1952H,TTN:NM_133437:exon27:c.G5855A:p.R1952H,TTN:NM_001256850:exon28:c.G5993A:p.R1998H,TTN:NM_001267550:exon28:c.G5993A:p.R1998H,TTN:NM_133378:exon28:c.G5993A:p.R1998H,TTN:NM_133379:exon28:c.G5993A:p.R1998H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.00159744;avsnp147=rs144135510;Kaviar_AF=0.0014553;Kaviar_AC=225;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0;ExAC_AMR=8.649e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0011;ExAC_SAS=0.0079;CLNALLELEID=56421;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.019;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.982;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.937;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=0.15;FATHMM_pred=T;PROVEAN_score=-3.12;PROVEAN_pred=D;VEST3_score=0.552;CADD_raw=3.059;CADD_phred=22.4;DANN_score=0.974;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.387;MetaSVM_pred=T;MetaLR_score=0.343;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.12;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.834;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=18.559;GDI_full_10282015=.;dpsi_max_tissue=-0.0036;dpsi_zscore=0.004;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0076;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1043.06,0,-1145.56:1141:567:539:16605:17674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179640894 . G A 12171.90 . AB=0.494935;ABP=3.31827;AC=1;AF=0.5;AN=2;AO=684;CIGAR=1X;DP=1382;DPB=1382;DPRA=0;EPP=86.3263;EPPR=41.5742;GTI=0;LEN=1;MEANALT=3;MQM=37.8728;MQMR=38.8894;NS=1;NUMALT=1;ODDS=2802.69;PAIRED=0.960526;PAIREDR=0.943199;PAO=0;PQA=0;PQR=0;PRO=0;QA=19599;QR=19991;RO=669;RPL=426;RPP=92.6121;RPPR=63.9316;RPR=258;RUN=1;SAF=353;SAP=4.54684;SAR=331;SF=0;SRF=341;SRP=3.55885;SRR=328;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.C5559T:p.I1853I,TTN:NM_133432:exon27:c.C5559T:p.I1853I,TTN:NM_133437:exon27:c.C5559T:p.I1853I,TTN:NM_001256850:exon28:c.C5697T:p.I1899I,TTN:NM_001267550:exon28:c.C5697T:p.I1899I,TTN:NM_133378:exon28:c.C5697T:p.I1899I,TTN:NM_133379:exon28:c.C5697T:p.I1899I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs148434577;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0033;ExAC_SAS=0;CLNALLELEID=56377;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0090;dpsi_zscore=-0.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1243.03,0,-1280.22:1382:669:684:19599:19991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179641009 . C T 11589.80 . AB=0.476855;ABP=9.34283;AC=1;AF=0.5;AN=2;AO=649;CIGAR=1X;DP=1361;DPB=1361;DPRA=0;EPP=18.94;EPPR=29.0294;GTI=0;LEN=1;MEANALT=3;MQM=37.9923;MQMR=38.4837;NS=1;NUMALT=1;ODDS=2668.66;PAIRED=0.958398;PAIREDR=0.942308;PAO=0;PQA=0;PQR=0;PRO=0;QA=18699;QR=20790;RO=676;RPL=346;RPP=9.19682;RPPR=3.02315;RPR=303;RUN=1;SAF=339;SAP=5.82418;SAR=310;SF=0;SRF=358;SRP=8.14988;SRR=318;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G5444A:p.R1815H,TTN:NM_133432:exon27:c.G5444A:p.R1815H,TTN:NM_133437:exon27:c.G5444A:p.R1815H,TTN:NM_001256850:exon28:c.G5582A:p.R1861H,TTN:NM_001267550:exon28:c.G5582A:p.R1861H,TTN:NM_133378:exon28:c.G5582A:p.R1861H,TTN:NM_133379:exon28:c.G5582A:p.R1861H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs140914855;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=8.238e-05;ExAC_AFR=9.61e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56360;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.092;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.06;MutationAssessor_pred=L;FATHMM_score=-0.28;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_pred=D;VEST3_score=0.731;CADD_raw=3.119;CADD_phred=22.6;DANN_score=0.970;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.210;MetaSVM_pred=T;MetaLR_score=0.387;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=18.648;GDI_full_10282015=.;dpsi_max_tissue=-0.0188;dpsi_zscore=-0.096;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.348e-05;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=8.937e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1169.77,0,-1343.8:1361:676:649:18699:20790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179641975 . C T 10019.79 . AB=0.471274;ABP=11.6184;AC=2;AF=0.5;AN=4;AO=566;CIGAR=1X;DP=2256;DPB=1201;DPRA=0;EPP=8.55024;EPPR=6.22465;GTI=0;LEN=1;MEANALT=3;MQM=39.4912;MQMR=39.8701;NS=1;NUMALT=1;ODDS=2437.87;PAIRED=0.989399;PAIREDR=0.978618;PAO=0;PQA=0;PQR=0;PRO=0;QA=16721;QR=18094;RO=608;RPL=197;RPP=116.51;RPPR=63.3687;RPR=369;RUN=1;SAF=311;SAP=15.0416;SAR=255;SF=0;SRF=344;SRP=25.8679;SRR=264;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon26:c.G4577A:p.R1526Q,TTN:NM_133432:exon26:c.G4577A:p.R1526Q,TTN:NM_133437:exon26:c.G4577A:p.R1526Q,TTN:NM_001256850:exon27:c.G4715A:p.R1572Q,TTN:NM_001267550:exon27:c.G4715A:p.R1572Q,TTN:NM_133378:exon27:c.G4715A:p.R1572Q,TTN:NM_133379:exon27:c.G4715A:p.R1572Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0330;esp6500siv2_ea=0.0430;esp6500siv2_all=0.0330;esp6500siv2_ea=0.0430;1000g2015aug_all=0.0752796;avsnp147=rs12476289;Kaviar_AF=0.0688154;Kaviar_AC=10639;Kaviar_AN=154602;ExAC_ALL=0.0711;ExAC_AFR=0.0105;ExAC_AMR=0.2578;ExAC_EAS=0.2063;ExAC_FIN=0.0573;ExAC_NFE=0.0456;ExAC_OTH=0.0496;ExAC_SAS=0.0184;CLNALLELEID=56263;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.605;SIFT_pred=T;Polyphen2_HDIV_score=0.813;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.23;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.0;FATHMM_pred=T;PROVEAN_score=-2.06;PROVEAN_pred=N;VEST3_score=0.255;CADD_raw=2.306;CADD_phred=18.21;DANN_score=0.977;fathmm-MKL_coding_score=0.733;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.051;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.0;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.979;phastCons20way_mammalian=0.934;SiPhy_29way_logOdds=7.247;GDI_full_10282015=.;dpsi_max_tissue=-0.0690;dpsi_zscore=-0.344;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0783;gnomAD_exome_AFR=0.0107;gnomAD_exome_AMR=0.2403;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2011;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0442;gnomAD_exome_OTH=0.0699;gnomAD_exome_SAS=0.0185;gnomAD_genome_ALL=0.0488;gnomAD_genome_AFR=0.0131;gnomAD_genome_AMR=0.1974;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1849;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0440;gnomAD_genome_OTH=0.0479;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1080.4,0,-1204.46:1201:608:566:16721:18094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-963.287,0,-1005.2:1055:533:507:14910:15414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179642162 . T C 9295.97 . AB=0.489716;ABP=3.94822;AC=2;AF=0.5;AN=4;AO=500;CIGAR=1X;DP=1886;DPB=1021;DPRA=0;EPP=3.0103;EPPR=4.74056;GTI=0;LEN=1;MEANALT=3;MQM=39.05;MQMR=39.3825;NS=1;NUMALT=1;ODDS=2158.77;PAIRED=0.974;PAIREDR=0.976096;PAO=0;PQA=0;PQR=0;PRO=0;QA=14731;QR=15768;RO=502;RPL=307;RPP=59.4512;RPPR=69.5214;RPR=193;RUN=1;SAF=183;SAP=80.9922;SAR=317;SF=0,1;SRF=194;SRP=59.2263;SRR=308;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon25:c.A4492G:p.I1498V,TTN:NM_133432:exon25:c.A4492G:p.I1498V,TTN:NM_133437:exon25:c.A4492G:p.I1498V,TTN:NM_001256850:exon26:c.A4630G:p.I1544V,TTN:NM_001267550:exon26:c.A4630G:p.I1544V,TTN:NM_133378:exon26:c.A4630G:p.I1544V,TTN:NM_133379:exon26:c.A4630G:p.I1544V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0022;1000g2015aug_all=0.0119808;avsnp147=rs72647877;Kaviar_AF=0.0048253;Kaviar_AC=746;Kaviar_AN=154602;ExAC_ALL=0.0053;ExAC_AFR=0.0373;ExAC_AMR=0.0045;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0029;ExAC_OTH=0.0045;ExAC_SAS=0.0007;CLNALLELEID=56243;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.52;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.42;MutationAssessor_pred=N;FATHMM_score=-0.22;FATHMM_pred=T;PROVEAN_score=0.26;PROVEAN_pred=N;VEST3_score=0.243;CADD_raw=1.446;CADD_phred=13.03;DANN_score=0.855;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.046;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=3.5;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.110;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=9.285;GDI_full_10282015=.;dpsi_max_tissue=-0.2010;dpsi_zscore=-0.689;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0050;gnomAD_exome_AFR=0.0351;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0341;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.496e-05;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0106;gnomAD_genome_AFR=0.0338;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-959.044,0,-1030.13:1021:502:500:14731:15768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-902.87,0,-940.833:865:428:428:13394:13935:428,428 . . . chr2 179642425 . G A 17918.76 . AB=0;ABP=0;AC=229;AF=1;AN=230;AO=840;CIGAR=1X;DP=85332;DPB=856;DPRA=0;EPP=45.3644;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.7274;MQMR=24;NS=1;NUMALT=1;ODDS=1152.5;PAIRED=0.991667;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=23717;QR=50;RO=2;RPL=438;RPP=6.36057;RPPR=7.35324;RPR=402;RUN=1;SAF=352;SAP=50.8241;SAR=488;SF=0,1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_exonic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9465;esp6500siv2_ea=0.9914;esp6500siv2_all=0.9465;esp6500siv2_ea=0.9914;1000g2015aug_all=0.911542;avsnp147=rs719201;Kaviar_AF=0.946476;Kaviar_AC=146327;Kaviar_AN=154602;ExAC_ALL=0.9588;ExAC_AFR=0.8507;ExAC_AMR=0.9308;ExAC_EAS=0.8757;ExAC_FIN=0.9809;ExAC_NFE=0.9890;ExAC_OTH=0.9637;ExAC_SAS=0.9583;CLNALLELEID=56228;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8740;dpsi_zscore=-1.859;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9611;gnomAD_exome_AFR=0.8540;gnomAD_exome_AMR=0.9382;gnomAD_exome_ASJ=0.9920;gnomAD_exome_EAS=0.8799;gnomAD_exome_FIN=0.9778;gnomAD_exome_NFE=0.9898;gnomAD_exome_OTH=0.9717;gnomAD_exome_SAS=0.9572;gnomAD_genome_ALL=0.9423;gnomAD_genome_AFR=0.8529;gnomAD_genome_AMR=0.9523;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.8755;gnomAD_genome_FIN=0.9794;gnomAD_genome_NFE=0.9889;gnomAD_genome_OTH=0.9756;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2051.46,-250.103,0:856:2:840:23717:50 1/1:-2354.95,-290.494,0:986:0:965:27260:0 1/1:-2128.28,-251.059,0:847:0:834:24565:0 1/1:-1538.04,-186.037,0:627:0:618:17670:0 1/1:-2100.56,-257.928,0:878:1:860:24333:14 1/1:-2141.16,-258.284,0:875:0:858:24713:0 0/1:-730.486,0,-598.099:756:335:388:10974:9475 1/1:-2050.19,-254.274,0:860:1:846:23798:21 1/1:-1757.9,-211.022,0:715:0:701:20436:0 1/1:-2291.92,-284.172,0:963:0:944:26638:0 1/1:-1938.61,-233.599,0:788:0:776:22309:0 1/1:-1751.21,-215.537,0:733:0:716:20350:0 1/1:-1918.71,-219.095,0:760:3:748:22177:78 1/1:-1847.22,-229.028,0:779:1:764:21584:14 1/1:-1632.87,-198.023,0:673:1:661:18854:14 1/1:-2880.15,-344.98,0:1159:0:1146:33229:0 1/1:-1731,-218.548,0:747:0:726:20407:0 1/1:-3559.04,-428.366,0:1449:0:1423:41293:0 1/1:-2081.21,-254.314,0:872:1:848:24245:14 1/1:-1593.83,-195.971,0:665:0:651:18589:0 1/1:-1479.42,-183.764,0:630:1:620:17337:36 1/1:-2303.17,-271.83,0:919:0:903:26576:0 1/1:-1424.91,-175.79,0:605:1:587:16673:14 1/1:-2336.31,-284.774,0:960:0:946:27111:0 1/1:-2070.61,-249.253,0:847:0:828:24024:0 1/1:-1603.06,-200.486,0:680:0:666:18780:0 1/1:-1852.81,-226.676,0:766:0:753:21589:0 1/1:-2412.67,-295.009,0:1004:0:980:27869:0 1/1:-1495.89,-187.241,0:635:0:622:17570:0 1/1:-1492.98,-177.006,0:598:0:588:17169:0 1/1:-1907.38,-230.89,0:784:0:767:22035:0 1/1:-2564.85,-313.372,0:1067:0:1041:29620:0 1/1:-2262.98,-275.743,0:936:0:916:26167:0 1/1:-638.577,-79.773,0:267:0:265:7375:0 1/1:-2373.13,-287.977,0:981:2:963:27425:28 1/1:-2222.37,-274.509,0:934:2:918:25964:28 1/1:-721.343,-89.4059,0:305:0:297:8374:0 1/1:-2352.49,-282.667,0:948:0:939:27121:0 1/1:-1940.53,-235.706,0:794:0:783:22403:0 1/1:-769.092,-98.7378,0:336:0:328:8975:0 1/1:-2497.15,-305.131,0:1034:1:1015:28793:32 1/1:-1749,-208.902,0:707:1:697:20199:14 1/1:-1816.18,-214.411,0:749:3:732:21105:77 1/1:-2079.65,-250.701,0:846:1:836:24160:14 1/1:-2832.94,-344.679,0:1161:0:1145:32729:0 1/1:-2306.15,-276.948,0:943:0:920:26513:0 1/1:-1890.37,-230.463,0:788:1:774:21881:32 1/1:-1162.92,-142.086,0:474:0:472:13357:0 1/1:-1925.37,-237.212,0:794:0:788:22204:0 1/1:-2429.28,-295.31,0:988:0:981:28058:0 1/1:-2245.16,-272.733,0:921:0:906:26043:0 1/1:-1952.31,-245.532,0:847:1:825:22870:36 1/1:-2525.56,-299.77,0:1017:1:999:28981:14 1/1:-2189.97,-268.519,0:907:0:892:25422:0 1/1:-1733.54,-215.236,0:731:0:715:20279:0 1/1:-1674.95,-206.206,0:698:0:685:19476:0 1/1:-2309.38,-278.152,0:942:0:924:26617:0 1/1:-1183.58,-149.217,0:508:1:497:13752:21 1/1:-1665.73,-201.743,0:684:1:670:19307:14 1/1:-1826.93,-226.074,0:763:0:751:21291:0 1/1:-1442.14,-179.113,0:603:0:595:16860:0 1/1:-2449.24,-301.933,0:1023:0:1003:28448:0 1/1:-1692.52,-202.292,0:685:0:672:19450:0 1/1:-1541.18,-193.863,0:660:0:644:17950:0 1/1:-2566.7,-310.362,0:1054:0:1031:29609:0 1/1:-1901.29,-231.082,0:780:1:769:21909:27 1/1:-1199.3,-148.709,0:510:0:494:13885:0 1/1:-2184.29,-270.17,0:924:1:907:25303:36 1/1:-1418.32,-176.103,0:602:0:585:16411:0 1/1:-2115.97,-259.488,0:873:0:862:24266:0 1/1:-2012.73,-246.544,0:834:0:819:23425:0 1/1:-2278.52,-274.84,0:920:0:913:26378:0 1/1:-2618.45,-313.933,0:1088:3:1068:30306:108 1/1:-1391.54,-180.618,0:614:0:600:16275:0 1/1:-1899.35,-226.625,0:771:2:757:21998:28 1/1:-2194.76,-270.024,0:922:0:897:25259:0 1/1:-2239,-269.493,0:916:1:900:25855:21 1/1:-2362.51,-282.67,0:974:2:957:27332:68 1/1:-1509.16,-185.724,0:634:1:620:17423:14 1/1:-1289.42,-156.536,0:533:0:520:14854:0 1/1:-2120.67,-255.73,0:873:1:858:24386:32 1/1:-2254.81,-273.335,0:933:0:908:25909:0 1/1:-2281.83,-281.364,0:962:1:936:26335:21 1/1:-1902.21,-233.544,0:794:1:779:22060:14 1/1:-1898.54,-236.61,0:799:0:786:22109:0 1/1:-1630.73,-196.874,0:676:0:654:18775:0 1/1:-1599,-190.153,0:664:2:644:18549:48 1/1:-2283.74,-278.152,0:939:0:924:26414:0 1/1:-1225.96,-148.395,0:505:1:496:14219:14 1/1:-2160.53,-259.768,0:882:1:866:25298:14 1/1:-2771.91,-328.881,0:1116:2:1097:32002:35 1/1:-1701.01,-209.517,0:704:0:696:19658:0 1/1:-2552.02,-312.168,0:1056:0:1037:29483:0 1/1:-1934.27,-233.599,0:790:0:776:22394:0 1/1:-2377.77,-287.729,0:975:1:959:27639:14 . 1/1:-1085.19,-118.004,0:396:0:392:12575:0:0,392 1/1:-1133.79,-125.177,0:428:1:419:13005:14:1,419 1/1:-1233.46,-136.969,0:456:0:455:14178:0:0,455 1/1:-736.919,-82.1812,0:276:0:273:8528:0:0,273 1/1:-1087.2,-121.014,0:405:0:402:12485:0:0,402 1/1:-1345.29,-151.117,0:513:0:502:15479:0:0,502 1/1:-1210.55,-132.742,0:453:1:444:13993:14:1,444 1/1:-1142.44,-129.443,0:440:0:430:13232:0:0,430 1/1:-1100.67,-121.616,0:410:0:404:12672:0:0,404 1/1:-903.521,-101.748,0:346:0:338:10505:0:0,338 1/1:-1260.31,-142.387,0:482:0:473:14525:0:0,473 1/1:-942.112,-104.758,0:357:0:348:10940:0:0,348 1/1:-875.155,-99.6409,0:339:0:331:10098:0:0,331 1/1:-1137.69,-126.433,0:424:0:420:13093:0:0,420 1/1:-1017.8,-113.789,0:381:0:378:11752:0:0,378 1/1:-1094.1,-127.035,0:428:0:422:12657:0:0,422 1/1:-1310.46,-148.408,0:509:0:493:15131:0:0,493 1/1:-1100.25,-121.917,0:409:0:405:12739:0:0,405 1/1:-1270.06,-140.581,0:474:0:467:14610:0:0,467 1/1:-889.295,-98.1358,0:332:0:326:10275:0:0,326 chr2 179642431 . C T 5398.29 . AB=0.482919;ABP=4.64228;AC=1;AF=0.5;AN=2;AO=311;CIGAR=1X;DP=644;DPB=644;DPRA=0;EPP=3.35243;EPPR=11.4016;GTI=0;LEN=1;MEANALT=3;MQM=39.7685;MQMR=40.1104;NS=1;NUMALT=1;ODDS=1243;PAIRED=0.993569;PAIREDR=0.984227;PAO=0;PQA=0;PQR=0;PRO=0;QA=8658;QR=9183;RO=317;RPL=141;RPP=8.88235;RPPR=4.98997;RPR=170;RUN=1;SAF=116;SAP=46.5864;SAR=195;SF=0;SRF=117;SRP=50.2004;SRR=200;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon24:c.G4342A:p.G1448S,TTN:NM_133432:exon24:c.G4342A:p.G1448S,TTN:NM_133437:exon24:c.G4342A:p.G1448S,TTN:NM_001256850:exon25:c.G4480A:p.G1494S,TTN:NM_001267550:exon25:c.G4480A:p.G1494S,TTN:NM_133378:exon25:c.G4480A:p.G1494S,TTN:NM_133379:exon25:c.G4480A:p.G1494S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774506028;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.245e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.66;MutationAssessor_pred=M;FATHMM_score=-1.23;FATHMM_pred=T;PROVEAN_score=-4.03;PROVEAN_pred=D;VEST3_score=0.629;CADD_raw=3.382;CADD_phred=23.0;DANN_score=0.979;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=0.347;MetaSVM_pred=D;MetaLR_score=0.674;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.8;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.970;phastCons20way_mammalian=0.984;SiPhy_29way_logOdds=20.064;GDI_full_10282015=.;dpsi_max_tissue=-0.0505;dpsi_zscore=-0.268;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.072e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.995e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-552.384,0,-610.115:644:317:311:8658:9183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179642589 . C G 6246.22 . AB=0.489341;ABP=4.0287;AC=5;AF=0.5;AN=10;AO=505;CIGAR=1X;DP=3919;DPB=1032;DPRA=0;EPP=8.27773;EPPR=3.96643;GTI=0;LEN=1;MEANALT=3;MQM=38.7168;MQMR=38.6086;NS=1;NUMALT=1;ODDS=2034.48;PAIRED=0.948515;PAIREDR=0.919765;PAO=0;PQA=0;PQR=0;PRO=0;QA=14107;QR=14505;RO=511;RPL=292;RPP=29.8463;RPPR=9.47372;RPR=213;RUN=1;SAF=215;SAP=27.1975;SAR=290;SF=0,1;SRF=209;SRP=39.7639;SRR=302;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon24:c.G4184C:p.R1395P,TTN:NM_133432:exon24:c.G4184C:p.R1395P,TTN:NM_133437:exon24:c.G4184C:p.R1395P,TTN:NM_001256850:exon25:c.G4322C:p.R1441P,TTN:NM_001267550:exon25:c.G4322C:p.R1441P,TTN:NM_133378:exon25:c.G4322C:p.R1441P,TTN:NM_133379:exon25:c.G4322C:p.R1441P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0076;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0076;1000g2015aug_all=0.0103834;avsnp147=rs72647876;Kaviar_AF=0.010375;Kaviar_AC=1604;Kaviar_AN=154602;ExAC_ALL=0.0111;ExAC_AFR=0.0012;ExAC_AMR=0.0060;ExAC_EAS=0.0088;ExAC_FIN=0.0180;ExAC_NFE=0.0116;ExAC_OTH=0.0132;ExAC_SAS=0.0174;CLNALLELEID=56211;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.095;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.655;MutationAssessor_pred=L;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-4.14;PROVEAN_pred=D;VEST3_score=0.767;CADD_raw=4.261;CADD_phred=23.9;DANN_score=0.959;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.403;MetaSVM_pred=T;MetaLR_score=0.249;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.45;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.254;GDI_full_10282015=.;dpsi_max_tissue=-0.0044;dpsi_zscore=-0.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0110;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0.0088;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0106;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0170;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0166;gnomAD_genome_NFE=0.0089;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-897.162,0,-917.245:1032:511:505:14107:14505 . 0/1:-678.611,0,-1039.3:1001:561:430:11821:15823 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-394.876,0,-400.354:452:221:226:6260:6526 . . . . . . . 0/1:-509.402,0,-608.03:640:331:297:8405:9351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-729.003,0,-862.077:794:413:374:11158:12760:413,374 . . . . . . . . chr2 179643733 . T C 4004.13 . AB=0.494407;ABP=3.13175;AC=1;AF=0.5;AN=2;AO=221;CIGAR=1X;DP=447;DPB=447;DPRA=0;EPP=3.25594;EPPR=3.05014;GTI=0;LEN=1;MEANALT=3;MQM=39.7738;MQMR=38.6743;NS=1;NUMALT=1;ODDS=921.985;PAIRED=0.959276;PAIREDR=0.977064;PAO=0;PQA=0;PQR=0;PRO=0;QA=6329;QR=6915;RO=218;RPL=145;RPP=49.7903;RPPR=27.9125;RPR=76;RUN=1;SAF=96;SAP=11.2737;SAR=125;SF=0;SRF=102;SRP=4.96263;SRR=116;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon23:c.A3938G:p.E1313G,TTN:NM_133432:exon23:c.A3938G:p.E1313G,TTN:NM_133437:exon23:c.A3938G:p.E1313G,TTN:NM_001256850:exon24:c.A4076G:p.E1359G,TTN:NM_001267550:exon24:c.A4076G:p.E1359G,TTN:NM_133378:exon24:c.A4076G:p.E1359G,TTN:NM_133379:exon24:c.A4076G:p.E1359G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs370978752;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189756;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.072;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.065;MutationAssessor_pred=L;FATHMM_score=-0.38;FATHMM_pred=T;PROVEAN_score=-4.52;PROVEAN_pred=D;VEST3_score=0.83;CADD_raw=2.651;CADD_phred=20.5;DANN_score=0.984;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.232;MetaSVM_pred=T;MetaLR_score=0.376;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.016;GDI_full_10282015=.;dpsi_max_tissue=-0.0342;dpsi_zscore=-0.188;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.704e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-412.535,0,-444.742:447:218:221:6329:6915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179643775 . C T 6206.41 . AB=0.494048;ABP=3.21711;AC=2;AF=0.5;AN=4;AO=332;CIGAR=1X;DP=1375;DPB=672;DPRA=0;EPP=29.8005;EPPR=12.7482;GTI=0;LEN=1;MEANALT=3;MQM=38.4849;MQMR=39.4938;NS=1;NUMALT=1;ODDS=1397.41;PAIRED=0.981928;PAIREDR=0.978261;PAO=0;PQA=0;PQR=0;PRO=0;QA=9627;QR=9990;RO=322;RPL=157;RPP=5.12945;RPPR=28.9331;RPR=175;RUN=1;SAF=161;SAP=3.66436;SAR=171;SF=0,1;SRF=158;SRP=3.25307;SRR=164;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon23:c.G3896A:p.G1299D,TTN:NM_133432:exon23:c.G3896A:p.G1299D,TTN:NM_133437:exon23:c.G3896A:p.G1299D,TTN:NM_001256850:exon24:c.G4034A:p.G1345D,TTN:NM_001267550:exon24:c.G4034A:p.G1345D,TTN:NM_133378:exon24:c.G4034A:p.G1345D,TTN:NM_133379:exon24:c.G4034A:p.G1345D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00379393;avsnp147=rs36021856;Kaviar_AF=0.0088356;Kaviar_AC=1366;Kaviar_AN=154602;ExAC_ALL=0.0099;ExAC_AFR=0.0013;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0766;ExAC_NFE=0.0096;ExAC_OTH=0.0220;ExAC_SAS=0.0005;CLNALLELEID=56183;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.268;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.38;MutationAssessor_pred=M;FATHMM_score=-0.24;FATHMM_pred=T;PROVEAN_score=-4.56;PROVEAN_pred=D;VEST3_score=0.783;CADD_raw=3.042;CADD_phred=22.4;DANN_score=0.965;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.120;MetaSVM_pred=T;MetaLR_score=0.356;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.895;GDI_full_10282015=.;dpsi_max_tissue=0.0046;dpsi_zscore=0.032;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516206#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0697;gnomAD_exome_NFE=0.0084;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0167;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0665;gnomAD_genome_NFE=0.0162;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-617.466,0,-658.335:672:322:332:9627:9990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-697.542,0,-734.561:703:343:345:10437:10825:343,345 . . . . . . . . . . . . . . chr2 179644035 . G A 14464.84 . AB=0;ABP=0;AC=229;AF=1;AN=230;AO=726;CIGAR=1X;DP=67631;DPB=731;DPRA=0;EPP=279.427;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=39.124;MQMR=0;NS=1;NUMALT=1;ODDS=1009.45;PAIRED=0.984848;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=21060;QR=0;RO=0;RPL=365;RPP=3.05816;RPPR=0;RPR=361;RUN=1;SAF=406;SAP=25.1318;SAR=320;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon22:c.C3746T:p.S1249L,TTN:NM_133432:exon22:c.C3746T:p.S1249L,TTN:NM_133437:exon22:c.C3746T:p.S1249L,TTN:NM_001256850:exon23:c.C3884T:p.S1295L,TTN:NM_001267550:exon23:c.C3884T:p.S1295L,TTN:NM_133378:exon23:c.C3884T:p.S1295L,TTN:NM_133379:exon23:c.C3884T:p.S1295L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9509;esp6500siv2_ea=0.9914;esp6500siv2_all=0.9509;esp6500siv2_ea=0.9914;1000g2015aug_all=0.920128;avsnp147=rs1552280;Kaviar_AF=0.956534;Kaviar_AC=147882;Kaviar_AN=154602;ExAC_ALL=0.9606;ExAC_AFR=0.8686;ExAC_AMR=0.9322;ExAC_EAS=0.8766;ExAC_FIN=0.9809;ExAC_NFE=0.9890;ExAC_OTH=0.9636;ExAC_SAS=0.9583;CLNALLELEID=56166;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.636;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.355;MutationAssessor_pred=N;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=3.01;PROVEAN_pred=N;VEST3_score=0.093;CADD_raw=2.581;CADD_phred=19.99;DANN_score=0.969;fathmm-MKL_coding_score=0.732;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.961;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.168;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.977;SiPhy_29way_logOdds=11.842;GDI_full_10282015=.;dpsi_max_tissue=-0.5504;dpsi_zscore=-1.141;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9623;gnomAD_exome_AFR=0.8703;gnomAD_exome_AMR=0.9394;gnomAD_exome_ASJ=0.9920;gnomAD_exome_EAS=0.8800;gnomAD_exome_FIN=0.9778;gnomAD_exome_NFE=0.9898;gnomAD_exome_OTH=0.9721;gnomAD_exome_SAS=0.9573;gnomAD_genome_ALL=0.9463;gnomAD_genome_AFR=0.8671;gnomAD_genome_AMR=0.9533;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.8747;gnomAD_genome_FIN=0.9794;gnomAD_genome_NFE=0.9889;gnomAD_genome_OTH=0.9755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1797.35,-218.548,0:731:0:726:21060:0 1/1:-2186.42,-264.304,0:887:0:878:25496:0 1/1:-1930.1,-224.685,0:761:1:756:22353:36 1/1:-1220.81,-137.108,0:491:3:482:14227:100 1/1:-1656.08,-200.787,0:671:0:667:19214:0 1/1:-1785.89,-213.129,0:710:0:708:20510:0 0/1:-593.253,0,-644.499:651:319:321:9166:9725 1/1:-1628.71,-183.966,0:637:3:631:19068:77 1/1:-1401.62,-165.567,0:553:0:550:16354:0 1/1:-2017.2,-232.765,0:796:2:787:23490:53 1/1:-1777.63,-212.226,0:708:0:705:20544:0 1/1:-1840.57,-218.247,0:730:0:725:21387:0 1/1:-1564.28,-181.659,0:622:1:613:18323:36 1/1:-1427.82,-172.189,0:578:0:572:16746:0 1/1:-1458.24,-175.802,0:592:0:584:17100:0 1/1:-2229.47,-260.993,0:873:0:867:26040:0 1/1:-1595.09,-191.42,0:645:1:637:18780:14 1/1:-2732.18,-326.618,0:1095:0:1085:31726:0 1/1:-1736.12,-208.915,0:696:0:694:20399:0 1/1:-1338.11,-161.352,0:537:0:536:15585:0 1/1:-1293.07,-155.277,0:526:1:519:15250:14 1/1:-2028.92,-240.77,0:812:1:803:23553:14 1/1:-1298.85,-161.352,0:539:0:536:15275:0 1/1:-1959.55,-231.492,0:774:0:769:22690:0 1/1:-1961.81,-235.066,0:794:1:782:22890:14 1/1:-1433.58,-173.694,0:579:0:577:16742:0 1/1:-1490.68,-182.123,0:610:0:605:17703:0 1/1:-1832.69,-217.946,0:730:0:724:21447:0 1/1:-1210.13,-148.709,0:501:0:494:14261:0 1/1:-1338.69,-156.837,0:527:0:521:15415:0 1/1:-1540.9,-185.736,0:623:0:617:17930:0 1/1:-2269.8,-275.442,0:919:0:915:26321:0 1/1:-1816.12,-215.537,0:722:0:716:21019:0 1/1:-554.131,-69.839,0:234:0:232:6493:0 1/1:-1971.49,-229.385,0:768:0:762:22851:0 1/1:-2054.96,-244.436,0:817:0:812:23654:0 1/1:-646.598,-75.8596,0:256:0:252:7404:0 1/1:-2045.43,-243.533,0:818:0:809:23754:0 1/1:-1748,-201.941,0:697:2:690:20327:72 1/1:-804.026,-93.6203,0:313:0:311:9255:0 1/1:-2019.79,-243.232,0:811:0:808:23486:0 1/1:-1445.3,-167.373,0:561:0:556:16821:0 1/1:-1623.17,-185.671,0:650:3:643:19063:99 1/1:-1778.61,-208.693,0:727:3:712:20877:86 1/1:-2624.84,-308.255,0:1035:0:1024:30350:0 1/1:-1823.79,-217.344,0:729:0:722:21320:0 1/1:-1467.39,-174.898,0:586:0:581:16977:0 1/1:-940.006,-111.381,0:374:0:370:10913:0 1/1:-1728.34,-208.915,0:704:0:694:20165:0 1/1:-2020.88,-242.329,0:813:0:805:23540:0 1/1:-1697.35,-200.486,0:672:0:666:19604:0 1/1:-1784.53,-217.344,0:726:0:722:20809:0 1/1:-2256.33,-264.906,0:886:0:880:26038:0 1/1:-1712.75,-202.894,0:683:0:674:19853:0 1/1:-1458.6,-178.511,0:598:0:593:17189:0 1/1:-1442.4,-170.684,0:573:0:567:16736:0 1/1:-1806.32,-209.818,0:700:0:697:20836:0 1/1:-1199.46,-143.591,0:484:0:477:14023:0 1/1:-1254.48,-152.02,0:513:0:505:14572:0 1/1:-1305.41,-157.74,0:529:0:524:15281:0 1/1:-1359.59,-164.051,0:553:1:548:15823:14 1/1:-2084.91,-242.63,0:813:0:806:24282:0 1/1:-1312.32,-155.331,0:522:0:516:15103:0 1/1:-1427.66,-175.199,0:584:0:582:16781:0 1/1:-2303.72,-269.723,0:903:0:896:26713:0 1/1:-1693.8,-205.526,0:691:1:689:19716:36 1/1:-1259.02,-151.418,0:508:0:503:14664:0 1/1:-2041.87,-246.243,0:824:0:818:23818:0 1/1:-1132.71,-137.27,0:459:0:456:13179:0 1/1:-1757.87,-210.704,0:717:1:707:20634:27 1/1:-1513.49,-180.919,0:605:0:601:17628:0 1/1:-2169.16,-257.381,0:863:0:855:24974:0 1/1:-2453.22,-285.034,0:974:2:966:28472:72 1/1:-1311.03,-167.373,0:559:0:556:15433:0 1/1:-1798.83,-211.022,0:702:0:701:20818:0 1/1:-1649,-199.583,0:669:0:663:19152:0 1/1:-1500.56,-184.23,0:614:0:612:17459:0 1/1:-2009.79,-233.277,0:795:1:782:23408:27 1/1:-1194.17,-142.387,0:480:0:473:13833:0 1/1:-1384.84,-164.362,0:551:0:546:16086:0 1/1:-1968.7,-227.039,0:782:3:773:22785:73 1/1:-1911.73,-226.074,0:756:0:751:22130:0 1/1:-1874.12,-221.859,0:744:0:737:21685:0 1/1:-1817.94,-208.881,0:707:1:701:21122:27 1/1:-1515.57,-184.531,0:621:0:613:17989:0 1/1:-1455.18,-172.791,0:577:0:574:16953:0 1/1:-1550.9,-180.317,0:604:0:599:17991:0 1/1:-2071.02,-245.038,0:820:0:814:24175:0 1/1:-1074.33,-128.54,0:433:0:427:12515:0 1/1:-2002.28,-238.717,0:798:0:793:23303:0 1/1:-2680.77,-307.954,0:1032:0:1023:31018:0 1/1:-1499.68,-177.853,0:603:1:594:17415:14 1/1:-2101.84,-245.887,0:832:2:825:24538:41 1/1:-1560.71,-178.812,0:595:0:594:18165:0 1/1:-1918.5,-228.123,0:763:1:761:22453:14 . 1/1:-361.589,-41.8432,0:141:0:139:4356:0:0,139 1/1:-497.751,-57.1957,0:191:0:190:5881:0:0,190 1/1:-661.054,-73.4513,0:247:0:244:7675:0:0,244 1/1:-257.636,-29.5009,0:99:0:98:3033:0:0,98 1/1:-436.459,-47.8638,0:159:0:159:5045:0:0,159 1/1:-551.272,-62.3132,0:211:0:207:6479:0:0,207 1/1:-518.698,-58.3998,0:194:0:194:6064:0:0,194 1/1:-593.558,-67.1297,0:224:0:223:6850:0:0,223 1/1:-430.408,-49.971,0:167:0:166:4988:0:0,166 1/1:-389.622,-44.2514,0:149:0:147:4523:0:0,147 1/1:-552.707,-60.507,0:202:0:201:6376:0:0,201 1/1:-444.178,-49.3689,0:164:0:164:5150:0:0,164 1/1:-473.804,-52.0782,0:173:0:173:5441:0:0,173 1/1:-534.906,-60.206,0:201:0:200:6198:0:0,200 1/1:-458.521,-52.0782,0:176:0:173:5322:0:0,173 1/1:-546.957,-57.4967,0:191:0:191:6274:0:0,191 1/1:-576.133,-65.6245,0:218:0:218:6655:0:0,218 1/1:-579.691,-63.5173,0:211:0:211:6715:0:0,211 1/1:-618.942,-67.7318,0:225:0:225:7227:0:0,225 1/1:-421.994,-47.2617,0:158:0:157:4976:0:0,157 chr2 179644041 . A C 4185.29 . AB=0.42461;ABP=31.4954;AC=1;AF=0.5;AN=2;AO=245;CIGAR=1X;DP=577;DPB=577;DPRA=0;EPP=116.184;EPPR=120.476;GTI=0;LEN=1;MEANALT=3;MQM=39.7224;MQMR=40.0612;NS=1;NUMALT=1;ODDS=963.7;PAIRED=0.987755;PAIREDR=0.984709;PAO=0;PQA=0;PQR=0;PRO=0;QA=7107;QR=10202;RO=327;RPL=124;RPP=3.09007;RPPR=12.1013;RPR=121;RUN=1;SAF=130;SAP=5.00451;SAR=115;SF=0;SRF=156;SRP=4.50443;SRR=171;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon22:c.T3740G:p.F1247C,TTN:NM_133432:exon22:c.T3740G:p.F1247C,TTN:NM_133437:exon22:c.T3740G:p.F1247C,TTN:NM_001256850:exon23:c.T3878G:p.F1293C,TTN:NM_001267550:exon23:c.T3878G:p.F1293C,TTN:NM_133378:exon23:c.T3878G:p.F1293C,TTN:NM_133379:exon23:c.T3878G:p.F1293C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.048;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.86;MutationAssessor_pred=H;FATHMM_score=-0.72;FATHMM_pred=T;PROVEAN_score=-5.11;PROVEAN_pred=D;VEST3_score=0.896;CADD_raw=2.245;CADD_phred=17.80;DANN_score=0.854;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=0.688;MetaSVM_pred=D;MetaLR_score=0.676;MetaLR_pred=D;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.016;GDI_full_10282015=.;dpsi_max_tissue=0.3581;dpsi_zscore=0.969;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-440.355,0,-705.706:577:327:245:7107:10202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179644160 . T C 3214.57 . AB=0.471396;ABP=6.11595;AC=2;AF=0.5;AN=4;AO=206;CIGAR=1X;DP=841;DPB=437;DPRA=0;EPP=6.42563;EPPR=3.80618;GTI=0;LEN=1;MEANALT=3;MQM=39.6796;MQMR=40.086;NS=1;NUMALT=1;ODDS=782.678;PAIRED=0.985437;PAIREDR=0.995475;PAO=0;PQA=0;PQR=0;PRO=0;QA=5932;QR=6679;RO=221;RPL=135;RPP=46.1868;RPPR=37.2134;RPR=71;RUN=1;SAF=23;SAP=272.863;SAR=183;SF=0;SRF=29;SRP=264.068;SRR=192;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon22:c.A3621G:p.R1207R,TTN:NM_133432:exon22:c.A3621G:p.R1207R,TTN:NM_133437:exon22:c.A3621G:p.R1207R,TTN:NM_001256850:exon23:c.A3759G:p.R1253R,TTN:NM_001267550:exon23:c.A3759G:p.R1253R,TTN:NM_133378:exon23:c.A3759G:p.R1253R,TTN:NM_133379:exon23:c.A3759G:p.R1253R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0422;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0422;1000g2015aug_all=0.0756789;avsnp147=rs2291308;Kaviar_AF=0.0675864;Kaviar_AC=10449;Kaviar_AN=154602;ExAC_ALL=0.0858;ExAC_AFR=0.0125;ExAC_AMR=0.2850;ExAC_EAS=0.2419;ExAC_FIN=0.0655;ExAC_NFE=0.0563;ExAC_OTH=0.0547;ExAC_SAS=0.0212;CLNALLELEID=56150;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1597;dpsi_zscore=-0.603;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0791;gnomAD_exome_AFR=0.0107;gnomAD_exome_AMR=0.2403;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2037;gnomAD_exome_FIN=0.0534;gnomAD_exome_NFE=0.0441;gnomAD_exome_OTH=0.0696;gnomAD_exome_SAS=0.0186;gnomAD_genome_ALL=0.0490;gnomAD_genome_AFR=0.0131;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1862;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0489;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-382.42,0,-444.33:437:221:206:5932:6679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-336.421,0,-429.267:404:212:184:5346:6440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179644855 . T C 19209.51 . AB=0;ABP=0;AC=198;AF=1;AN=226;AO=1074;CIGAR=1X;DP=111104;DPB=1105;DPRA=0;EPP=387.357;EPPR=3.32051;GTI=0;LEN=1;MEANALT=3;MQM=40.0764;MQMR=39.4286;NS=1;NUMALT=1;ODDS=1426.66;PAIRED=0.973929;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=30134;QR=189;RO=7;RPL=595;RPP=30.2164;RPPR=3.32051;RPR=479;RUN=1;SAF=572;SAP=12.9174;SAR=502;SF=0,1;SRF=3;SRP=3.32051;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon21:c.A3463G:p.K1155E,TTN:NM_133432:exon21:c.A3463G:p.K1155E,TTN:NM_133437:exon21:c.A3463G:p.K1155E,TTN:NM_001256850:exon22:c.A3601G:p.K1201E,TTN:NM_001267550:exon22:c.A3601G:p.K1201E,TTN:NM_133378:exon22:c.A3601G:p.K1201E,TTN:NM_133379:exon22:c.A3601G:p.K1201E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.7349;esp6500siv2_ea=0.8702;esp6500siv2_all=0.7349;esp6500siv2_ea=0.8702;1000g2015aug_all=0.5002;avsnp147=rs10497520;Kaviar_AF=0.70208;Kaviar_AC=108543;Kaviar_AN=154602;ExAC_ALL=0.6944;ExAC_AFR=0.4633;ExAC_AMR=0.3726;ExAC_EAS=0.1991;ExAC_FIN=0.8174;ExAC_NFE=0.8655;ExAC_OTH=0.7561;ExAC_SAS=0.5786;CLNALLELEID=56138;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.43;SIFT_pred=T;Polyphen2_HDIV_score=0.86;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.453;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=-2.35;PROVEAN_pred=N;VEST3_score=0.588;CADD_raw=2.524;CADD_phred=19.62;DANN_score=0.973;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.063;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=4.56;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.647;GDI_full_10282015=.;dpsi_max_tissue=0.1415;dpsi_zscore=0.596;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6885;gnomAD_exome_AFR=0.4591;gnomAD_exome_AMR=0.4009;gnomAD_exome_ASJ=0.8474;gnomAD_exome_EAS=0.2017;gnomAD_exome_FIN=0.8198;gnomAD_exome_NFE=0.8685;gnomAD_exome_OTH=0.7572;gnomAD_exome_SAS=0.5793;gnomAD_genome_ALL=0.7025;gnomAD_genome_AFR=0.4674;gnomAD_genome_AMR=0.4832;gnomAD_genome_ASJ=0.8808;gnomAD_genome_EAS=0.2144;gnomAD_genome_FIN=0.8291;gnomAD_genome_NFE=0.8651;gnomAD_genome_OTH=0.7922;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2595.32,-308.713,0:1105:7:1074:30134:189 0/1:-1076.52,0,-1240.96:1279:637:615:16782:18668 1/1:-2615.75,-301.437,0:1120:13:1082:30478:332 1/1:-1553.32,-193.4,0:673:2:654:17884:46 1/1:-2535.92,-301.371,0:1111:12:1070:29535:301 1/1:-2618.15,-326.262,0:1117:1:1087:30042:14 0/1:-900.861,0,-792.454:915:417:479:13545:12318 1/1:-2292.05,-273.049,0:1041:12:985:26908:306 1/1:-1874.78,-230.233,0:786:1:768:21698:14 1/1:-2766.01,-338.768,0:1161:2:1136:31913:50 1/1:-2303.04,-281.613,0:975:4:948:26556:56 0/1:-1004.03,0,-997.182:1058:501:536:15160:15072 1/1:-2304.49,-275.211,0:985:5:947:26545:128 1/1:-2180.69,-273.511,0:951:3:922:25192:55 1/1:-2072,-253.492,0:907:4:861:23933:78 1/1:-3512.81,-423.586,0:1512:9:1462:40744:224 0/1:-890.865,0,-713.78:904:402:481:13487:11453 1/1:-4688.28,-578.706,0:2026:6:1954:53956:128 0/1:-1043.62,0,-1074.72:1159:554:581:16020:16383 0/1:-803.539,0,-851.571:887:437:433:12203:12903 1/1:-1884.9,-230.772,0:827:5:795:21780:114 0/1:-1176.57,0,-1378.38:1353:703:626:18103:20562 1/1:-1593.06,-195.785,0:692:4:663:18471:56 1/1:-2838.17,-347.635,0:1193:1:1158:32650:14 1/1:-2890.48,-348.807,0:1221:7:1190:33280:138 1/1:-2059.89,-253.368,0:897:6:870:23850:127 1/1:-2285.22,-270.818,0:959:5:931:26372:123 0/1:-953.497,0,-1188.82:1149:595:535:14867:17640 1/1:-2012.6,-235.795,0:911:14:864:23736:337 1/1:-1864.02,-230.78,0:795:2:773:21607:28 1/1:-2219.29,-270.34,0:959:6:929:25682:132 1/1:-3330.45,-401.634,0:1400:5:1350:38258:70 1/1:-2742.35,-335.518,0:1159:3:1124:31634:42 1/1:-721.584,-71.9164,0:329:10:310:8556:275 1/1:-2909.76,-359.047,0:1269:7:1227:33659:140 1/1:-2760.55,-334.694,0:1197:8:1161:31993:194 1/1:-836.282,-96.6564,0:357:4:343:9648:87 1/1:-3122.73,-382.799,0:1302:2:1278:35954:28 1/1:-2523.25,-310.713,0:1085:5:1049:29287:92 . 1/1:-3177.37,-382.822,0:1352:7:1303:36652:129 0/1:-882.162,0,-874.49:970:465:491:13425:13426 0/1:-921.072,0,-1098.74:1077:544:511:14283:16251 0/1:-1010.75,0,-1114.97:1154:578:555:15518:17025 1/1:-3184.88,-393.851,0:1393:6:1339:36774:133 1/1:-2486.45,-308.181,0:1084:6:1047:28687:106 0/1:-949.935,0,-900.398:1004:475:512:14449:13757 0/1:-518.32,0,-630.712:610:314:285:7989:9285 0/1:-681.83,0,-792.15:792:403:377:10463:11841 0/1:-1164.17,0,-1106.55:1232:585:628:17555:17007 1/1:-2698.15,-323.403,0:1153:8:1116:31143:169 1/1:-2443.7,-297.799,0:1083:10:1044:28637:237 1/1:-3087.85,-376.342,0:1311:5:1276:35665:105 1/1:-2707.84,-328.325,0:1172:8:1133:31188:178 0/1:-767.569,0,-775.039:855:408:434:11800:12062 1/1:-2220.53,-272.974,0:938:2:911:25381:28 0/1:-979.474,0,-1131:1124:574:530:14987:17002 1/1:-1576.11,-190.047,0:691:4:663:18368:122 1/1:-1802.47,-219.132,0:769:3:734:20693:42 1/1:-2195.07,-249.116,0:972:18:923:25734:392 0/1:-638.891,0,-768.016:788:399:369:10233:11481 1/1:-2842.8,-356.29,0:1241:3:1193:32922:42 1/1:-1947.51,-223.5,0:831:10:791:22553:198 0/1:-655.347,0,-840.759:821:434:368:10363:12477 1/1:-3201.54,-384.461,0:1344:4:1299:37032:96 0/1:-964.637,0,-974.614:1041:500:523:14568:14879 1/1:-1809.53,-228.065,0:803:5:773:20934:92 1/1:-2765.02,-338.165,0:1167:3:1135:31880:49 1/1:-1689.55,-205.731,0:718:3:698:19514:60 1/1:-2615.31,-324.388,0:1130:3:1087:30332:42 1/1:-2464.41,-307.2,0:1054:4:1033:28380:56 1/1:-2933.59,-342.699,0:1253:14:1216:33874:329 1/1:-2795.35,-330.71,0:1210:8:1153:32182:213 1/1:-1697.53,-227.355,0:815:6:774:19891:84 1/1:-2295.03,-275.733,0:988:7:956:26806:160 1/1:-2650.99,-325.754,0:1176:9:1132:30651:210 1/1:-2846.36,-346.441,0:1218:6:1180:32809:119 0/1:-1054.25,0,-1243.63:1248:637:580:16381:18654 1/1:-1903.75,-228.109,0:789:2:768:21953:41 1/1:-1635.62,-190.515,0:716:8:689:19007:249 1/1:-2673.65,-322.859,0:1156:9:1117:31132:214 1/1:-3027.76,-373.857,0:1277:2:1248:34916:28 1/1:-2913.38,-360.193,0:1248:3:1224:33691:104 1/1:-2259.04,-280.636,0:976:3:948:26055:64 1/1:-2086.11,-261.239,0:898:1:871:24072:14 1/1:-2160.1,-256.391,0:911:5:880:25016:119 1/1:-1975.58,-242.004,0:859:5:824:22838:95 0/1:-999.822,0,-1067.16:1132:560:549:15365:16353 1/1:-1560.92,-194.766,0:661:0:647:17939:0 0/1:-1239.49,0,-1283.15:1346:652:673:18855:19423 1/1:-3775.27,-450.559,0:1589:6:1540:43566:168 1/1:-2218.79,-263.762,0:951:7:921:25939:177 1/1:-3038.09,-377.044,0:1312:6:1268:35055:84 1/1:-2418.37,-276.043,0:1042:13:1002:28103:345 1/1:-2904.81,-365.074,0:1255:2:1219:33358:28 . 0/1:-668.565,0,-579.22:618:290:314:9777:8800:290,314 . 1/1:-2043.82,-224.185,0:797:5:780:23612:136:5,780 1/1:-960.606,-108.199,0:375:1:369:11053:36:1,369 1/1:-1601.14,-180.79,0:619:1:609:18455:32:1,609 1/1:-2133.5,-241.563,0:834:2:814:24673:46:2,814 1/1:-1744.32,-188.982,0:666:3:650:20095:86:3,650 0/1:-767.328,0,-783.501:781:383:385:11506:11725:383,385 1/1:-1628.43,-185.725,0:628:1:620:18684:14:1,620 0/1:-597.67,0,-596.889:583:289:289:8878:8912:289,289 1/1:-1994.56,-220.055,0:764:2:749:22830:68:2,749 1/1:-1369.32,-147.673,0:530:3:519:15848:108:3,519 1/1:-1626.24,-180.295,0:640:3:625:18931:99:3,625 1/1:-1867.74,-210.721,0:720:0:700:21498:0:0,700 1/1:-1852.11,-205.903,0:716:2:702:21367:68:2,702 1/1:-1595.67,-181.22,0:612:0:602:18273:0:0,602 1/1:-2071.87,-233.298,0:797:0:775:23724:0:0,775 0/1:-628.353,0,-719.569:672:345:319:9624:10527:345,319 1/1:-1742.27,-197.476,0:670:0:656:19967:0:0,656 0/1:-532.23,0,-822.369:656:381:267:8286:11710:381,267 chr2 179647078 . C A 3374.57 . AB=0.43361;ABP=21.4633;AC=1;AF=0.5;AN=2;AO=209;CIGAR=1X;DP=482;DPB=482;DPRA=0;EPP=6.01296;EPPR=15.8783;GTI=0;LEN=1;MEANALT=2;MQM=37.8947;MQMR=37.1;NS=1;NUMALT=1;ODDS=777.024;PAIRED=0.91866;PAIREDR=0.914815;PAO=0;PQA=0;PQR=0;PRO=0;QA=5912;QR=8118;RO=270;RPL=147;RPP=78.0768;RPPR=130.693;RPR=62;RUN=1;SAF=86;SAP=17.234;SAR=123;SF=0;SRF=121;SRP=9.31561;SRR=149;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon19:c.G3103T:p.A1035S,TTN:NM_133432:exon19:c.G3103T:p.A1035S,TTN:NM_133437:exon19:c.G3103T:p.A1035S,TTN:NM_001256850:exon20:c.G3241T:p.A1081S,TTN:NM_001267550:exon20:c.G3241T:p.A1081S,TTN:NM_133378:exon20:c.G3241T:p.A1081S,TTN:NM_133379:exon20:c.G3241T:p.A1081S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs55914517;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189760;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.119;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.981;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.09;FATHMM_pred=T;PROVEAN_score=-1.87;PROVEAN_pred=N;VEST3_score=0.46;CADD_raw=2.555;CADD_phred=19.82;DANN_score=0.766;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.142;MetaSVM_pred=T;MetaLR_score=0.361;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.067;SiPhy_29way_logOdds=16.474;GDI_full_10282015=.;dpsi_max_tissue=-0.2384;dpsi_zscore=-0.756;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.287e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-355.072,0,-526.697:482:270:209:5912:8118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179647533 . C T 7285.02 . AB=0.498705;ABP=3.02155;AC=1;AF=0.5;AN=2;AO=385;CIGAR=1X;DP=772;DPB=772;DPRA=0;EPP=179.712;EPPR=253.414;GTI=0;LEN=1;MEANALT=3;MQM=38.0078;MQMR=38.2717;NS=1;NUMALT=1;ODDS=1529.52;PAIRED=0.963636;PAIREDR=0.953804;PAO=0;PQA=0;PQR=0;PRO=0;QA=12449;QR=11780;RO=368;RPL=88;RPP=249.379;RPPR=304.397;RPR=297;RUN=1;SAF=295;SAP=240.039;SAR=90;SF=0;SRF=288;SRP=258.3;SRR=80;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon17:c.G2962A:p.V988M,TTN:NM_133432:exon17:c.G2962A:p.V988M,TTN:NM_133437:exon17:c.G2962A:p.V988M,TTN:NM_001256850:exon18:c.G3100A:p.V1034M,TTN:NM_001267550:exon18:c.G3100A:p.V1034M,TTN:NM_133378:exon18:c.G3100A:p.V1034M,TTN:NM_133379:exon18:c.G3100A:p.V1034M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000399361;avsnp147=rs142951505;Kaviar_AF=0.0009379;Kaviar_AC=145;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0.0007;CLNALLELEID=56075;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.124;SIFT_pred=T;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.873;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=0.14;FATHMM_pred=T;PROVEAN_score=-1.87;PROVEAN_pred=N;VEST3_score=0.697;CADD_raw=3.404;CADD_phred=23.0;DANN_score=0.968;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.662;MetaSVM_pred=T;MetaLR_score=0.312;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.761;phastCons20way_mammalian=0.927;SiPhy_29way_logOdds=20.879;GDI_full_10282015=.;dpsi_max_tissue=-0.1136;dpsi_zscore=-0.489;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM123527#"Muscular_dystrophy";gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-805.438,0,-757.8:772:368:385:12449:11780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179647546 . A G 9507.00 . AB=0.507109;ABP=3.47341;AC=2;AF=0.5;AN=4;AO=535;CIGAR=1X;DP=2030;DPB=1055;DPRA=0;EPP=400.65;EPPR=245.494;GTI=0;LEN=1;MEANALT=3;MQM=38.615;MQMR=37.9125;NS=1;NUMALT=1;ODDS=2058.72;PAIRED=0.973832;PAIREDR=0.93837;PAO=0;PQA=0;PQR=0;PRO=0;QA=17179;QR=16198;RO=503;RPL=99;RPP=463.967;RPPR=464.627;RPR=436;RUN=1;SAF=437;SAP=469.455;SAR=98;SF=0;SRF=392;SRP=343.888;SRR=111;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon17:c.T2949C:p.Y983Y,TTN:NM_133432:exon17:c.T2949C:p.Y983Y,TTN:NM_133437:exon17:c.T2949C:p.Y983Y,TTN:NM_001256850:exon18:c.T3087C:p.Y1029Y,TTN:NM_001267550:exon18:c.T3087C:p.Y1029Y,TTN:NM_133378:exon18:c.T3087C:p.Y1029Y,TTN:NM_133379:exon18:c.T3087C:p.Y1029Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0363;esp6500siv2_ea=0.0476;esp6500siv2_all=0.0363;esp6500siv2_ea=0.0476;1000g2015aug_all=0.0776757;avsnp147=rs55863869;Kaviar_AF=0.0718878;Kaviar_AC=11114;Kaviar_AN=154602;ExAC_ALL=0.0745;ExAC_AFR=0.0116;ExAC_AMR=0.2607;ExAC_EAS=0.2090;ExAC_FIN=0.0639;ExAC_NFE=0.0500;ExAC_OTH=0.0530;ExAC_SAS=0.0187;CLNALLELEID=56072;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0295;dpsi_zscore=-0.162;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0814;gnomAD_exome_AFR=0.0116;gnomAD_exome_AMR=0.2418;gnomAD_exome_ASJ=0.0499;gnomAD_exome_EAS=0.2050;gnomAD_exome_FIN=0.0600;gnomAD_exome_NFE=0.0483;gnomAD_exome_OTH=0.0721;gnomAD_exome_SAS=0.0188;gnomAD_genome_ALL=0.0544;gnomAD_genome_AFR=0.0139;gnomAD_genome_AMR=0.2064;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1900;gnomAD_genome_FIN=0.0664;gnomAD_genome_NFE=0.0520;gnomAD_genome_OTH=0.0580;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . 0/1:-1128.19,0,-1013.5:1055:503:535:17179:16198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1029.58,0,-1011.87:975:476:491:15703:15526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179648457 . G T 6847.20 . AB=0.469945;ABP=8.75343;AC=1;AF=0.5;AN=2;AO=344;CIGAR=1X;DP=732;DPB=732;DPRA=0;EPP=9.47422;EPPR=20.744;GTI=0;LEN=1;MEANALT=3;MQM=40.8023;MQMR=40.9062;NS=1;NUMALT=1;ODDS=1576.63;PAIRED=0.97093;PAIREDR=0.976562;PAO=0;PQA=0;PQR=0;PRO=0;QA=10653;QR=12033;RO=384;RPL=99;RPP=137.566;RPPR=79.1023;RPR=245;RUN=1;SAF=181;SAP=5.05552;SAR=163;SF=1;SRF=174;SRP=10.339;SRR=210;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon16:c.C2693A:p.T898N,TTN:NM_133432:exon16:c.C2693A:p.T898N,TTN:NM_133437:exon16:c.C2693A:p.T898N,TTN:NM_001256850:exon17:c.C2831A:p.T944N,TTN:NM_001267550:exon17:c.C2831A:p.T944N,TTN:NM_133378:exon17:c.C2831A:p.T944N,TTN:NM_133379:exon17:c.C2831A:p.T944N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.226;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.913;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=0.94;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_pred=D;VEST3_score=0.31;CADD_raw=2.837;CADD_phred=21.6;DANN_score=0.933;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.185;MetaSVM_pred=T;MetaLR_score=0.367;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=20.354;GDI_full_10282015=.;dpsi_max_tissue=-0.2920;dpsi_zscore=-0.841;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-707.524,0,-827.666:732:384:344:10653:12033:384,344 . . . . . . . . . . . . . chr2 179648562 . T C 6114.36 . AB=0.446381;ABP=21.6396;AC=1;AF=0.5;AN=2;AO=333;CIGAR=1X;DP=746;DPB=746;DPRA=0;EPP=32.2828;EPPR=3.14368;GTI=0;LEN=1;MEANALT=3;MQM=40.0631;MQMR=40.7666;NS=1;NUMALT=1;ODDS=1407.88;PAIRED=0.981982;PAIREDR=0.987715;PAO=0;PQA=0;PQR=0;PRO=0;QA=10297;QR=13141;RO=407;RPL=257;RPP=216.643;RPPR=144.764;RPR=76;RUN=1;SAF=81;SAP=193.689;SAR=252;SF=0;SRF=105;SRP=210.068;SRR=302;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs773937498;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.572e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.682e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0694;dpsi_zscore=-0.346;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.658e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.67e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-666.024,0,-911.023:746:407:333:10297:13141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179650408 . G A 11069.32 . AB=0.484794;ABP=5.25558;AC=53;AF=0.5;AN=92;AO=542;CIGAR=1X;DP=46864;DPB=1118;DPRA=0;EPP=113.411;EPPR=51.5669;GTI=0;LEN=1;MEANALT=3;MQM=39.559;MQMR=39.6842;NS=1;NUMALT=1;ODDS=2333.03;PAIRED=0.987085;PAIREDR=0.974592;PAO=0;PQA=0;PQR=0;PRO=0;QA=15791;QR=16299;RO=551;RPL=283;RPP=5.31799;RPPR=31.4838;RPR=259;RUN=1;SAF=277;SAP=3.58722;SAR=265;SF=0,1;SRF=304;SRP=15.8145;SRR=247;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon14:c.C2294T:p.T765I,TTN:NM_133432:exon14:c.C2294T:p.T765I,TTN:NM_133437:exon14:c.C2294T:p.T765I,TTN:NM_001256850:exon15:c.C2432T:p.T811I,TTN:NM_001267550:exon15:c.C2432T:p.T811I,TTN:NM_133378:exon15:c.C2432T:p.T811I,TTN:NM_133379:exon15:c.C2432T:p.T811I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1897;esp6500siv2_ea=0.2345;esp6500siv2_all=0.1897;esp6500siv2_ea=0.2345;1000g2015aug_all=0.100439;avsnp147=rs35813871;Kaviar_AF=0.174571;Kaviar_AC=26989;Kaviar_AN=154602;ExAC_ALL=0.1691;ExAC_AFR=0.1061;ExAC_AMR=0.1090;ExAC_EAS=0.0001;ExAC_FIN=0.1225;ExAC_NFE=0.2383;ExAC_OTH=0.1861;ExAC_SAS=0.0771;CLNALLELEID=55970;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.903;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=-3.19;PROVEAN_pred=D;VEST3_score=0.639;CADD_raw=2.681;CADD_phred=20.7;DANN_score=0.939;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.116;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.51;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.784;GDI_full_10282015=.;dpsi_max_tissue=0.6407;dpsi_zscore=1.263;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1695;gnomAD_exome_AFR=0.1046;gnomAD_exome_AMR=0.1168;gnomAD_exome_ASJ=0.3282;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.1335;gnomAD_exome_NFE=0.2369;gnomAD_exome_OTH=0.2057;gnomAD_exome_SAS=0.0789;gnomAD_genome_ALL=0.1597;gnomAD_genome_AFR=0.1050;gnomAD_genome_AMR=0.1587;gnomAD_genome_ASJ=0.3675;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1328;gnomAD_genome_NFE=0.2096;gnomAD_genome_OTH=0.1802;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1032.74,0,-1068.29:1118:551:542:15791:16299 0/1:-762.266,0,-665.127:782:364:398:11451:10427 . . . 0/1:-1006.04,0,-1367.09:1260:687:552:16074:20225 0/1:-894.369,0,-1083.8:1060:552:488:14012:16287 0/1:-914.651,0,-1237.37:1171:634:514:14784:18454 . 0/1:-1052.84,0,-1211.39:1228:620:579:16565:18363 . 0/1:-870.131,0,-847.025:976:464:494:13851:13338 0/1:-910.361,0,-1025.3:1056:531:495:14328:15533 . . 1/1:-5077.51,-576.843,0:2166:26:2098:59963:705 . . . 0/1:-1145.77,0,-1282.37:1284:650:614:17824:19418 0/1:-507.416,0,-601.914:628:319:289:8200:9175 . 0/1:-1108.15,0,-1291.98:1286:654:606:17345:19553 0/1:-729.041,0,-918.624:935:484:422:11832:14207 . 0/1:-1197.27,0,-1357.66:1358:687:642:18694:20495 0/1:-817.419,0,-809.604:880:426:439:12570:12459 0/1:-680.678,0,-892.665:831:453:365:10745:13208 0/1:-837.217,0,-962.993:952:493:447:12930:14552 0/1:-1240,0,-1405.33:1380:705:654:19117:20918 . 0/1:-313.567,0,-327.342:332:166:163:4786:4976 . . 1/1:-1027.84,-108.864,0:450:9:429:12318:259 . 0/1:-939.868,0,-1087.31:1113:566:519:14848:16667 . 0/1:-1290.23,0,-1403.39:1407:704:682:19971:20985 . . . . . . . . . 0/1:-1038.21,0,-1347.16:1252:675:563:16271:19991 0/1:-831.023,0,-1086.27:1093:582:483:13640:16723 . . . 0/1:-675.269,0,-972.833:869:473:379:10853:14311 . . . 0/1:-963.894,0,-1199.88:1154:609:527:15253:18023 . . 0/1:-905.677,0,-1097.76:1067:564:478:14271:16519 . . 0/1:-1179.61,0,-1160.98:1245:599:622:18050:17768 0/1:-573.188,0,-573.642:640:314:312:8941:9018 . . . 0/1:-976.45,0,-1336.29:1226:676:535:15593:19831 0/1:-1265.21,0,-1361.23:1412:691:691:19626:20777 1/1:-2791.18,-277.294,0:1224:33:1169:33251:980 1/1:-1596.55,-205.853,0:762:9:738:19605:232 . . . . 1/1:-1892.92,-202.205,0:807:15:776:22581:404 . . 0/1:-1145.27,0,-1192.07:1245:606:609:17725:18181 1/1:-3043.31,-337.237,0:1290:19:1247:36367:514 . . . . 0/1:-1072.56,0,-1176.86:1190:599:571:16630:17757 0/1:-568.931,0,-685.851:696:361:323:9126:10388 . . . . . 1/1:-2897.18,-331.54,0:1227:13:1184:34073:368 . 0/1:-836.101,0,-984.114:880:460:410:12703:14278:460,410 . . . 0/1:-530.619,0,-722.181:613:339:270:8297:10442:339,270 . 0/1:-631.914,0,-694.955:645:330:310:9534:10280:330,310 . 0/1:-761.153,0,-772.806:736:362:365:11295:11478:362,365 . . 0/1:-659.195,0,-612.84:615:288:319:9763:9113:288,319 . . . . . 0/1:-595.909,0,-826.959:683:382:294:9183:11803:382,294 . 0/1:-711.432,0,-642.902:640:304:333:10358:9558:304,333 chr2 179650427 . C T 7997.34 . AB=0.445144;ABP=32.0752;AC=1;AF=0.5;AN=2;AO=495;CIGAR=1X;DP=1112;DPB=1112;DPRA=0;EPP=149.92;EPPR=155.252;GTI=0;LEN=1;MEANALT=3;MQM=38.897;MQMR=39.488;NS=1;NUMALT=1;ODDS=1841.46;PAIRED=0.973737;PAIREDR=0.982818;PAO=0;PQA=0;PQR=0;PRO=0;QA=13459;QR=16476;RO=582;RPL=239;RPP=4.27809;RPPR=19.2628;RPR=256;RUN=1;SAF=213;SAP=23.8959;SAR=282;SF=0;SRF=272;SRP=8.39794;SRR=310;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon14:c.G2275A:p.V759M,TTN:NM_133432:exon14:c.G2275A:p.V759M,TTN:NM_133437:exon14:c.G2275A:p.V759M,TTN:NM_001256850:exon15:c.G2413A:p.V805M,TTN:NM_001267550:exon15:c.G2413A:p.V805M,TTN:NM_133378:exon15:c.G2413A:p.V805M,TTN:NM_133379:exon15:c.G2413A:p.V805M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.975;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.975;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-1.56;PROVEAN_pred=N;VEST3_score=0.689;CADD_raw=2.982;CADD_phred=22.2;DANN_score=0.965;fathmm-MKL_coding_score=0.921;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.670;MetaSVM_pred=T;MetaLR_score=0.322;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.51;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.556;GDI_full_10282015=.;dpsi_max_tissue=0.7916;dpsi_zscore=1.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-826.442,0,-1090.76:1112:582:495:13459:16476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179650701 . C T 14407.44 . AB=0.452422;ABP=25.7394;AC=77;AF=0.5;AN=118;AO=523;CIGAR=1X;DP=76697;DPB=1156;DPRA=0;EPP=3.1141;EPPR=15.6766;GTI=0;LEN=1;MEANALT=3;MQM=36.6673;MQMR=37.4273;NS=1;NUMALT=1;ODDS=1775.18;PAIRED=0.93499;PAIREDR=0.913824;PAO=0;PQA=0;PQR=0;PRO=0;QA=13385;QR=16378;RO=557;RPL=223;RPP=27.6272;RPPR=28.5885;RPR=300;RUN=1;SAF=308;SAP=38.9206;SAR=215;SF=0,1;SRF=332;SRP=47.6444;SRR=225;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon13:c.G2106A:p.E702E,TTN:NM_133432:exon13:c.G2106A:p.E702E,TTN:NM_133437:exon13:c.G2106A:p.E702E,TTN:NM_001256850:exon14:c.G2244A:p.E748E,TTN:NM_001267550:exon14:c.G2244A:p.E748E,TTN:NM_133378:exon14:c.G2244A:p.E748E,TTN:NM_133379:exon14:c.G2244A:p.E748E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3360;esp6500siv2_ea=0.4057;esp6500siv2_all=0.3360;esp6500siv2_ea=0.4057;1000g2015aug_all=0.204673;avsnp147=rs6715406;Kaviar_AF=0.322059;Kaviar_AC=49791;Kaviar_AN=154602;ExAC_ALL=0.3192;ExAC_AFR=0.1882;ExAC_AMR=0.1525;ExAC_EAS=0.0707;ExAC_FIN=0.4780;ExAC_NFE=0.4010;ExAC_OTH=0.3656;ExAC_SAS=0.2516;CLNALLELEID=55939;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0894;dpsi_zscore=0.450;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3178;gnomAD_exome_AFR=0.1916;gnomAD_exome_AMR=0.1695;gnomAD_exome_ASJ=0.3298;gnomAD_exome_EAS=0.0725;gnomAD_exome_FIN=0.4680;gnomAD_exome_NFE=0.4034;gnomAD_exome_OTH=0.3388;gnomAD_exome_SAS=0.2536;gnomAD_genome_ALL=0.3392;gnomAD_genome_AFR=0.1907;gnomAD_genome_AMR=0.2189;gnomAD_genome_ASJ=0.3113;gnomAD_genome_EAS=0.0847;gnomAD_genome_FIN=0.4734;gnomAD_genome_NFE=0.4251;gnomAD_genome_OTH=0.3959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-784.551,0,-1029.19:1156:557:523:13385:16378 . 0/1:-859.005,0,-1335.93:1291:683:560:14663:20667 . 1/1:-2588.13,-295.854,0:1414:48:1275:32643:1221 . . . 0/1:-942.556,0,-1304.01:1354:681:614:15855:20207 . . . 1/1:-2189.32,-246.364,0:1186:40:1068:27218:1018 . . 1/1:-3899.74,-481.434,0:2009:46:1843:47821:1072 . . . 0/1:-683.055,0,-859.587:970:470:454:11629:14004 0/1:-643.464,0,-963.073:994:512:434:11111:15137 . 0/1:-539.262,0,-641.893:782:374:379:9623:11057 . 0/1:-1166.05,0,-1414.09:1594:763:759:19594:22686 . 1/1:-2672.4,-298.51,0:1434:52:1278:33077:1280 . 0/1:-693.148,0,-978.259:1078:542:476:12272:16106 . . 0/1:-1168.07,0,-1597.26:1680:837:764:19615:25047 . 0/1:-352.451,0,-460.144:503:239:232:5914:7325 . 0/1:-1060.5,0,-1591.84:1621:841:715:18253:25066 . 0/1:-913.557,0,-1054.45:1223:567:596:15346:17090 . . . . . . 0/1:-1217.65,0,-1490.68:1650:802:779:20277:23808 1/1:-2813.38,-319.125,0:1476:43:1357:35324:1211 . 0/1:-613.654,0,-788:869:427:399:10243:12435 0/1:-889.815,0,-1047.77:1143:557:546:14565:16518 0/1:-1256.53,0,-1419.29:1666:765:818:20635:22805 0/1:-1071.63,0,-1441.01:1490:746:671:17734:22708 0/1:-939.782,0,-1163.51:1367:660:623:15963:19081 0/1:-1128.44,0,-1656.46:1679:849:749:19411:25555 1/1:-3248.98,-422.197,0:1656:28:1540:39704:612 0/1:-602.389,0,-887.405:978:484:443:10983:14412 . . 1/1:-1413.58,-162.901,0:817:31:724:17988:824 1/1:-2077.06,-269.226,0:1061:14:981:25597:371 . . 1/1:-3423.81,-421.049,0:1763:36:1630:42072:916 . 0/1:-556.303,0,-871.324:903:464:397:10311:13623 0/1:-1272.53,0,-1508.33:1711:807:828:21045:24041 . 0/1:-412.524,0,-690.581:714:378:301:7637:11099 0/1:-936.828,0,-1423.76:1416:728:623:16183:22004 0/1:-869.9,0,-1165.74:1247:614:583:14836:18544 1/1:-2766.44,-351.319,0:1477:31:1343:34169:809 0/1:-946.169,0,-1390.47:1386:712:612:16206:21735 0/1:-1249.11,0,-1629.2:1734:847:809:20841:25837 . . 1/1:-2234.31,-266.928,0:1137:29:1049:27508:702 0/1:-1210.23,0,-1872.36:1885:966:828:21212:28832 . . . 0/1:-654.183,0,-737.877:882:419:425:10878:12619 0/1:-1021.98,0,-1528.07:1592:798:713:17801:23825 . . . 1/1:-2322.8,-267.356,0:1228:40:1125:29175:1032 1/1:-2595.51,-334.885,0:1357:28:1236:31777:574 1/1:-1778.25,-189.328,0:968:38:867:22256:1064 . 0/1:-495.734,0,-915.086:830:445:336:8631:13526 0/1:-849.024,0,-1056.64:1226:589:580:14479:17065 1/1:-3096.85,-358.983,0:1661:53:1512:39037:1356 1/1:-2535.9,-335.032,0:1304:17:1204:30540:395 0/1:-1241.44,0,-1417.19:1611:754:785:20317:22577 0/1:-1090.86,0,-1288.58:1465:697:704:18154:20808 . . . . 1/1:-3317.2,-341.452,0:1376:24:1314:39157:744:24,1314 0/1:-797.31,0,-1116.57:939:504:416:12417:16008:504,416 0/1:-1004.23,0,-1235.5:1107:566:514:15498:18044:566,514 0/1:-1223.18,0,-1365.5:1338:653:653:18709:20667:653,653 0/1:-1140.28,0,-1134.39:1162:542:591:17156:16936:542,591 0/1:-1077.21,0,-1368.17:1258:631:581:16696:20163:631,581 0/1:-1243.33,0,-1464.47:1363:678:661:19198:21680:678,661 0/1:-1135.82,0,-1419.64:1269:648:594:17532:20657:648,594 . . . 1/1:-2949.12,-328.641,0:1247:12:1187:34619:384:12,1187 . . . . . . chr2 179650794 . G A 7128.66 . AB=0.476082;ABP=7.37303;AC=1;AF=0.5;AN=2;AO=418;CIGAR=1X;DP=878;DPB=878;DPRA=0;EPP=37.9409;EPPR=22.9146;GTI=0;LEN=1;MEANALT=3;MQM=35.9043;MQMR=36.351;NS=1;NUMALT=1;ODDS=1641.43;PAIRED=0.937799;PAIREDR=0.935335;PAO=0;PQA=0;PQR=0;PRO=0;QA=12155;QR=12492;RO=433;RPL=247;RPP=33.0161;RPPR=3.01531;RPR=171;RUN=1;SAF=189;SAP=11.3222;SAR=229;SF=0;SRF=213;SRP=3.25603;SRR=220;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon13:c.C2013T:p.P671P,TTN:NM_133432:exon13:c.C2013T:p.P671P,TTN:NM_133437:exon13:c.C2013T:p.P671P,TTN:NM_001256850:exon14:c.C2151T:p.P717P,TTN:NM_001267550:exon14:c.C2151T:p.P717P,TTN:NM_133378:exon14:c.C2151T:p.P717P,TTN:NM_133379:exon14:c.C2151T:p.P717P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs374570732;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.799e-05;ExAC_AFR=9.707e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.038e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=55920;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1341;dpsi_zscore=-0.543;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.11e-05;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.461e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-728.061,0,-752.838:878:433:418:12155:12492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179654695 . C G 6536.01 . AB=0.481638;ABP=5.08363;AC=1;AF=0.5;AN=2;AO=341;CIGAR=1X;DP=708;DPB=708;DPRA=0;EPP=3.78082;EPPR=10.0615;GTI=0;LEN=1;MEANALT=3;MQM=39.9648;MQMR=40.7135;NS=1;NUMALT=1;ODDS=1504.97;PAIRED=0.979472;PAIREDR=0.991573;PAO=0;PQA=0;PQR=0;PRO=0;QA=10143;QR=10877;RO=356;RPL=133;RPP=38.83;RPPR=59.2246;RPR=208;RUN=1;SAF=190;SAP=12.696;SAR=151;SF=0;SRF=205;SRP=20.7969;SRR=151;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00599042;avsnp147=rs190935632;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;ExAC_ALL=0.0048;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0024;ExAC_OTH=0.0022;ExAC_SAS=0.0242;CLNALLELEID=55876;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2333;dpsi_zscore=0.785;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0231;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-665.93,0,-733.433:708:356:341:10143:10877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179658175 . C T 10571.68 . AB=0.455564;ABP=24.4312;AC=6;AF=0.5;AN=12;AO=569;CIGAR=1X;DP=6909;DPB=1249;DPRA=0;EPP=33.2392;EPPR=30.5478;GTI=0;LEN=1;MEANALT=3;MQM=39.2513;MQMR=39.0873;NS=1;NUMALT=1;ODDS=2529.82;PAIRED=0.966608;PAIREDR=0.984686;PAO=0;PQA=0;PQR=0;PRO=0;QA=17449;QR=19757;RO=653;RPL=368;RPP=109.443;RPPR=24.8281;RPR=201;RUN=1;SAF=304;SAP=8.81489;SAR=265;SF=0;SRF=344;SRP=7.08389;SRR=309;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon9:c.G1492A:p.V498I,TTN:NM_001267550:exon9:c.G1492A:p.V498I,TTN:NM_003319:exon9:c.G1492A:p.V498I,TTN:NM_133378:exon9:c.G1492A:p.V498I,TTN:NM_133379:exon9:c.G1492A:p.V498I,TTN:NM_133432:exon9:c.G1492A:p.V498I,TTN:NM_133437:exon9:c.G1492A:p.V498I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0233;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0233;1000g2015aug_all=0.00758786;avsnp147=rs72647851;Kaviar_AF=0.0157048;Kaviar_AC=2428;Kaviar_AN=154602;ExAC_ALL=0.0148;ExAC_AFR=0.0045;ExAC_AMR=0.0122;ExAC_EAS=0;ExAC_FIN=0.0239;ExAC_NFE=0.0200;ExAC_OTH=0.0231;ExAC_SAS=0.0060;CLNALLELEID=55806;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.953;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=0.41;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_pred=N;VEST3_score=0.103;CADD_raw=2.756;CADD_phred=21.1;DANN_score=0.949;fathmm-MKL_coding_score=0.797;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.037;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=4.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.958;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=12.353;GDI_full_10282015=.;dpsi_max_tissue=-0.4267;dpsi_zscore=-1.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0163;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0133;gnomAD_exome_ASJ=0.0043;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0278;gnomAD_exome_NFE=0.0225;gnomAD_exome_OTH=0.0197;gnomAD_exome_SAS=0.0065;gnomAD_genome_ALL=0.0148;gnomAD_genome_AFR=0.0046;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0266;gnomAD_genome_NFE=0.0207;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-1122.4,0,-1304.94:1249:653:569:17449:19757 . . . . . . . . 0/1:-980.814,0,-662.491:915:383:511:14980:11015 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1255.09,0,-1238.23:1350:646:663:19580:19123 . . . . . 0/1:-971.204,0,-1166.89:1130:580:521:15564:17576 . . . . . . . . . 0/1:-1120.35,0,-1245.85:1230:625:578:17411:18928 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1028.61,0,-948.966:1035:493:519:15853:14622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179659108 . T C 839.83 . AB=0.438462;ABP=7.28643;AC=1;AF=0.5;AN=2;AO=57;CIGAR=1X;DP=130;DPB=130;DPRA=0;EPP=9.44853;EPPR=30.2671;GTI=0;LEN=1;MEANALT=3;MQM=36.6316;MQMR=35.3284;NS=1;NUMALT=1;ODDS=193.377;PAIRED=1;PAIREDR=0.970149;PAO=0;PQA=0;PQR=0;PRO=0;QA=1719;QR=2136;RO=67;RPL=13;RPP=39.6206;RPPR=52.306;RPR=44;RUN=1;SAF=48;SAP=60.9543;SAR=9;SF=0;SRF=62;SRP=108.311;SRR=5;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0021;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0021;1000g2015aug_all=0.00119808;avsnp147=rs72647849;Kaviar_AF=0.0023674;Kaviar_AC=366;Kaviar_AN=154602;ExAC_ALL=0.0025;ExAC_AFR=0.0007;ExAC_AMR=0.0003;ExAC_EAS=0.0003;ExAC_FIN=0.0094;ExAC_NFE=0.0031;ExAC_OTH=0.0055;ExAC_SAS=0.0008;CLNALLELEID=141488;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0925;dpsi_zscore=-0.426;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0105;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0032;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-100.892,0,-130.302:130:67:57:1719:2136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179659110 . G A 980.76 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=77;CIGAR=1X;DP=154;DPB=154;DPRA=0;EPP=33.7211;EPPR=7.12467;GTI=0;LEN=1;MEANALT=2;MQM=37;MQMR=36.8684;NS=1;NUMALT=1;ODDS=225.829;PAIRED=0.961039;PAIREDR=0.973684;PAO=0;PQA=0;PQR=0;PRO=0;QA=2139;QR=2415;RO=76;RPL=6;RPP=122.159;RPPR=32.268;RPR=71;RUN=1;SAF=61;SAP=60.1172;SAR=16;SF=0;SRF=66;SRP=92.6121;SRR=10;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00599042;avsnp147=rs144043280;Kaviar_AF=0.0041138;Kaviar_AC=636;Kaviar_AN=154602;ExAC_ALL=0.0048;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0024;ExAC_OTH=0.0022;ExAC_SAS=0.0242;CLNALLELEID=141487;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1061;dpsi_zscore=0.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0231;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-127.289,0,-153.712:154:76:77:2139:2415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179659294 . C T 6145.73 . AB=0.552699;ABP=12.394;AC=2;AF=0.5;AN=4;AO=215;CIGAR=1X;DP=1338;DPB=389;DPRA=0;EPP=146.035;EPPR=137.052;GTI=0;LEN=1;MEANALT=3;MQM=38.6326;MQMR=39.4012;NS=1;NUMALT=1;ODDS=566.168;PAIRED=1;PAIREDR=0.981481;PAO=0;PQA=0;PQR=0;PRO=0;QA=6082;QR=4506;RO=162;RPL=118;RPP=7.46434;RPPR=24.4569;RPR=97;RUN=1;SAF=118;SAP=7.46434;SAR=97;SF=0;SRF=88;SRP=5.63751;SRR=74;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0014;1000g2015aug_all=0.000998403;avsnp147=rs72647847;Kaviar_AF=0.0016494;Kaviar_AC=255;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0033;ExAC_SAS=0.0079;CLNALLELEID=141486;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0260;dpsi_zscore=-0.142;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0025;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.489e-05;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0078;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-403.517,0,-271.231:389:162:215:6082:4506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-905.528,0,-727.893:949:427:484:13792:11861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179659757 . T C 10368.20 . AB=0.45;ABP=32.108;AC=1;AF=0.5;AN=2;AO=603;CIGAR=1X;DP=1340;DPB=1340;DPRA=0;EPP=29.0284;EPPR=65.9953;GTI=0;LEN=1;MEANALT=3;MQM=35.2703;MQMR=37.9759;NS=1;NUMALT=1;ODDS=2387.37;PAIRED=0.872305;PAIREDR=0.913475;PAO=0;PQA=0;PQR=0;PRO=0;QA=18194;QR=21481;RO=705;RPL=313;RPP=4.91529;RPPR=5.97028;RPR=290;RUN=1;SAF=295;SAP=3.61889;SAR=308;SF=0;SRF=327;SRP=11.0216;SRR=378;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.A1137G:p.R379R,TTN:NM_001267550:exon7:c.A1137G:p.R379R,TTN:NM_003319:exon7:c.A1137G:p.R379R,TTN:NM_133378:exon7:c.A1137G:p.R379R,TTN:NM_133379:exon7:c.A1137G:p.R379R,TTN:NM_133432:exon7:c.A1137G:p.R379R,TTN:NM_133437:exon7:c.A1137G:p.R379R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00599042;avsnp147=rs55972547;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;ExAC_ALL=0.0048;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0024;ExAC_OTH=0.0022;ExAC_SAS=0.0242;CLNALLELEID=55762;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0920;dpsi_zscore=-0.425;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=5.807e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0231;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1049.53,0,-1382.03:1340:705:603:18194:21481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179659815 . C G 8198.32 . AB=0.453299;ABP=25.1176;AC=1;AF=0.5;AN=2;AO=529;CIGAR=1X;DP=1167;DPB=1167;DPRA=0;EPP=3.04724;EPPR=6.32792;GTI=0;LEN=1;MEANALT=3;MQM=34.1059;MQMR=37.0668;NS=1;NUMALT=1;ODDS=1887.73;PAIRED=0.899811;PAIREDR=0.879173;PAO=0;PQA=0;PQR=0;PRO=0;QA=14962;QR=19483;RO=629;RPL=241;RPP=12.0779;RPPR=10.6363;RPR=288;RUN=1;SAF=276;SAP=5.18177;SAR=253;SF=0;SRF=319;SRP=3.28993;SRR=310;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.G1079C:p.R360T,TTN:NM_001267550:exon7:c.G1079C:p.R360T,TTN:NM_003319:exon7:c.G1079C:p.R360T,TTN:NM_133378:exon7:c.G1079C:p.R360T,TTN:NM_133379:exon7:c.G1079C:p.R360T,TTN:NM_133432:exon7:c.G1079C:p.R360T,TTN:NM_133437:exon7:c.G1079C:p.R360T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0022;1000g2015aug_all=0.0119808;avsnp147=rs56128843;Kaviar_AF=0.0056015;Kaviar_AC=866;Kaviar_AN=154602;ExAC_ALL=0.0062;ExAC_AFR=0.0158;ExAC_AMR=0.0023;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0024;ExAC_OTH=0.0022;ExAC_SAS=0.0242;CLNALLELEID=55752;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.617;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.173;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-2.16;PROVEAN_pred=N;VEST3_score=0.56;CADD_raw=2.453;CADD_phred=19.16;DANN_score=0.876;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.012;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.37;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.935;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=6.433;GDI_full_10282015=.;dpsi_max_tissue=0.0313;dpsi_zscore=0.204;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0171;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0231;gnomAD_genome_ALL=0.0053;gnomAD_genome_AFR=0.0149;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-830.844,0,-1238.81:1167:629:529:14962:19483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179659912 . G A 4852.54 . AB=0.409449;ABP=48.2351;AC=21;AF=0.5;AN=40;AO=260;CIGAR=1X;DP=11365;DPB=635;DPRA=0;EPP=29.2016;EPPR=4.90624;GTI=0;LEN=1;MEANALT=3;MQM=36.3846;MQMR=36.6375;NS=1;NUMALT=1;ODDS=897.924;PAIRED=0.911538;PAIREDR=0.909366;PAO=0;PQA=0;PQR=0;PRO=0;QA=7203;QR=10072;RO=331;RPL=176;RPP=73.7001;RPPR=22.8553;RPR=84;RUN=1;SAF=114;SAP=11.5626;SAR=146;SF=0,1;SRF=151;SRP=8.52755;SRR=180;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.C982T:p.R328C,TTN:NM_001267550:exon7:c.C982T:p.R328C,TTN:NM_003319:exon7:c.C982T:p.R328C,TTN:NM_133378:exon7:c.C982T:p.R328C,TTN:NM_133379:exon7:c.C982T:p.R328C,TTN:NM_133432:exon7:c.C982T:p.R328C,TTN:NM_133437:exon7:c.C982T:p.R328C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0881;esp6500siv2_ea=0.0531;esp6500siv2_all=0.0881;esp6500siv2_ea=0.0531;1000g2015aug_all=0.236022;avsnp147=rs16866538;Kaviar_AF=0.118575;Kaviar_AC=18332;Kaviar_AN=154602;ExAC_ALL=0.1238;ExAC_AFR=0.1655;ExAC_AMR=0.1040;ExAC_EAS=0.5968;ExAC_FIN=0.0490;ExAC_NFE=0.0508;ExAC_OTH=0.0837;ExAC_SAS=0.1918;CLNALLELEID=56867;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.766;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.158;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.007;MutationTaster_pred=P;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_pred=T;PROVEAN_score=-4.61;PROVEAN_pred=D;VEST3_score=0.809;CADD_raw=2.207;CADD_phred=17.56;DANN_score=0.678;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.891;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.3;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.158;phastCons20way_mammalian=0.086;SiPhy_29way_logOdds=11.731;GDI_full_10282015=.;dpsi_max_tissue=-0.0603;dpsi_zscore=-0.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1222;gnomAD_exome_AFR=0.1704;gnomAD_exome_AMR=0.1018;gnomAD_exome_ASJ=0.0662;gnomAD_exome_EAS=0.5983;gnomAD_exome_FIN=0.0488;gnomAD_exome_NFE=0.0513;gnomAD_exome_OTH=0.0816;gnomAD_exome_SAS=0.1884;gnomAD_genome_ALL=0.1139;gnomAD_genome_AFR=0.1678;gnomAD_genome_AMR=0.0901;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0.5748;gnomAD_genome_FIN=0.0375;gnomAD_genome_NFE=0.0551;gnomAD_genome_OTH=0.0866;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-409.898,0,-638.285:635:331:260:7203:10072 . . . . . . . 0/1:-325.071,0,-363.544:421:200:199:5637:5914 . . . . . . . 0/1:-587.744,0,-541.033:653:300:327:9343:9077 . . . . . . . . . . . 1/1:-803.99,-83.5298,0:379:10:347:10110:282 . . 0/1:-441.32,0,-602.414:621:325:272:7914:9533 0/1:-405.855,0,-507.229:536:276:237:6808:8228 . . 0/1:-457.357,0,-602.339:630:321:285:7923:9762 0/1:-263.933,0,-384.147:367:194:155:4366:5939 . 0/1:-660.157,0,-693.225:801:379:375:10768:11158 . . . . 0/1:-317.479,0,-330.774:432:190:212:5974:5629 . 0/1:-577.313,0,-520.755:623:274:318:9146:8562 . . . 0/1:-277.468,0,-245.89:340:152:172:4890:4475 . . 0/1:-317.091,0,-387.909:431:222:193:5602:6335 . 0/1:-535.837,0,-615.816:654:321:311:8963:9769 . . . . . . . . . . . 0/1:-522.036,0,-656.286:700:352:318:8925:10448 . . . . . . . . . . . 0/1:-461.566,0,-497.13:571:273:273:7801:8198 . . . . . . . . . . . . . 0/1:-727.882,0,-582.464:649:292:343:10720:9078:292,343 . 0/1:-675.666,0,-638.589:660:313:332:10083:9753:313,332 . . . . . . . 0/1:-618.81,0,-635.606:620:302:300:9322:9392:302,300 . 0/1:-724.577,0,-559.437:642:281:345:10667:8799:281,345 chr2 179665279 . G A 13874.20 . AB=0.488506;ABP=4.80738;AC=1;AF=0.5;AN=2;AO=765;CIGAR=1X;DP=1566;DPB=1566;DPRA=0;EPP=78.4271;EPPR=118.081;GTI=0;LEN=1;MEANALT=3;MQM=37.6693;MQMR=38.1701;NS=1;NUMALT=1;ODDS=3194.66;PAIRED=0.912418;PAIREDR=0.937662;PAO=0;PQA=0;PQR=0;PRO=0;QA=22379;QR=23252;RO=770;RPL=465;RPP=80.2892;RPPR=44.9846;RPR=300;RUN=1;SAF=342;SAP=21.6339;SAR=423;SF=0;SRF=352;SRP=15.2946;SRR=418;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon4:c.C426T:p.A142A,TTN:NM_001267550:exon4:c.C426T:p.A142A,TTN:NM_003319:exon4:c.C426T:p.A142A,TTN:NM_133378:exon4:c.C426T:p.A142A,TTN:NM_133379:exon4:c.C426T:p.A142A,TTN:NM_133432:exon4:c.C426T:p.A142A,TTN:NM_133437:exon4:c.C426T:p.A142A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00599042;avsnp147=rs56137037;Kaviar_AF=0.0041073;Kaviar_AC=635;Kaviar_AN=154602;ExAC_ALL=0.0048;ExAC_AFR=0.0002;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0024;ExAC_OTH=0.0022;ExAC_SAS=0.0243;CLNALLELEID=56209;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0559;dpsi_zscore=-0.291;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0231;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-1412.97,0,-1478.75:1566:770:765:22379:23252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179666933 . C G 10727.00 . AB=0.450694;ABP=31.9183;AC=1;AF=0.5;AN=2;AO=617;CIGAR=1X;DP=1369;DPB=1369;DPRA=0;EPP=21.7652;EPPR=6.43957;GTI=0;LEN=1;MEANALT=3;MQM=35.9919;MQMR=36.6817;NS=1;NUMALT=1;ODDS=2469.98;PAIRED=0.910859;PAIREDR=0.904372;PAO=0;PQA=0;PQR=0;PRO=0;QA=18712;QR=22194;RO=732;RPL=275;RPP=18.8089;RPPR=36.3418;RPR=342;RUN=1;SAF=336;SAP=13.6565;SAR=281;SF=0;SRF=396;SRP=13.6897;SRR=336;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon3:c.G227C:p.G76A,TTN:NM_001267550:exon3:c.G227C:p.G76A,TTN:NM_003319:exon3:c.G227C:p.G76A,TTN:NM_133378:exon3:c.G227C:p.G76A,TTN:NM_133379:exon3:c.G227C:p.G76A,TTN:NM_133432:exon3:c.G227C:p.G76A,TTN:NM_133437:exon3:c.G227C:p.G76A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs138750421;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=272181;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.845;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.165;MutationAssessor_pred=M;FATHMM_score=-0.98;FATHMM_pred=T;PROVEAN_score=-3.73;PROVEAN_pred=D;VEST3_score=0.689;CADD_raw=2.526;CADD_phred=19.63;DANN_score=0.982;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=0.212;MetaSVM_pred=D;MetaLR_score=0.595;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.919;GDI_full_10282015=.;dpsi_max_tissue=-0.9491;dpsi_zscore=-1.441;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.75e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-1087.5,0,-1389.44:1369:732:617:18712:22194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179666982 . C A 6904.66 . AB=0.471255;ABP=11.8738;AC=3;AF=0.5;AN=6;AO=582;CIGAR=1X;DP=2566;DPB=1235;DPRA=0;EPP=3.07;EPPR=4.51363;GTI=0;LEN=1;MEANALT=3;MQM=36.6082;MQMR=37.2857;NS=1;NUMALT=1;ODDS=2288.78;PAIRED=0.914089;PAIREDR=0.913658;PAO=0;PQA=0;PQR=0;PRO=0;QA=16658;QR=19119;RO=637;RPL=351;RPP=56.7375;RPPR=87.0364;RPR=231;RUN=1;SAF=290;SAP=3.02522;SAR=292;SF=0;SRF=322;SRP=3.17734;SRR=315;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon3:c.G178T:p.D60Y,TTN:NM_001267550:exon3:c.G178T:p.D60Y,TTN:NM_003319:exon3:c.G178T:p.D60Y,TTN:NM_133378:exon3:c.G178T:p.D60Y,TTN:NM_133379:exon3:c.G178T:p.D60Y,TTN:NM_133432:exon3:c.G178T:p.D60Y,TTN:NM_133437:exon3:c.G178T:p.D60Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0258;esp6500siv2_ea=0.0059;esp6500siv2_all=0.0258;esp6500siv2_ea=0.0059;1000g2015aug_all=0.0289537;avsnp147=rs35683768;Kaviar_AF=0.0131499;Kaviar_AC=2033;Kaviar_AN=154602;ExAC_ALL=0.0139;ExAC_AFR=0.0683;ExAC_AMR=0.0102;ExAC_EAS=0.0088;ExAC_FIN=0.0157;ExAC_NFE=0.0065;ExAC_OTH=0.0099;ExAC_SAS=0.0142;CLNALLELEID=55852;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.16;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_pred=T;PROVEAN_score=-5.57;PROVEAN_pred=D;VEST3_score=0.606;CADD_raw=3.822;CADD_phred=23.4;DANN_score=0.946;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.919;GDI_full_10282015=.;dpsi_max_tissue=0.0447;dpsi_zscore=0.273;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0132;gnomAD_exome_AFR=0.0704;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0055;gnomAD_exome_EAS=0.0088;gnomAD_exome_FIN=0.0175;gnomAD_exome_NFE=0.0065;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0137;gnomAD_genome_ALL=0.0244;gnomAD_genome_AFR=0.0684;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0093;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0050;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-1008.03,0,-1199.75:1235:637:582:16658:19119 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-511.492,0,-597.468:651:322:313:8702:9567 . . . . . . . 0/1:-591.656,0,-621.164:680:331:342:9628:9935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr2 179669244 . GAAAAAAAAACAAAAGTG GAAAAAAAAAACAAAAGTG 4379.37 . AB=0.288926;ABP=467.769;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1M1I17M;DP=1201;DPB=1234.89;DPRA=0;EPP=9.02409;EPPR=6.46249;GTI=0;LEN=1;MEANALT=140;MQM=39.7003;MQMR=41.1021;NS=1;NUMALT=1;ODDS=1008.39;PAIRED=0.95389;PAIREDR=0.964083;PAO=4.5;PQA=92.5;PQR=92.5;PRO=4.5;QA=8261;QR=16996;RO=529;RPL=210;RPP=36.3584;RPPR=75.6212;RPR=137;RUN=1;SAF=192;SAP=11.5773;SAR=155;SF=1;SRF=289;SRP=12.8661;SRR=240;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0038;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0038;esp6500siv2_ea=0.0045;1000g2015aug_all=0.00419329;avsnp147=rs200033767;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;ExAC_ALL=0.0069;ExAC_AFR=0.0032;ExAC_AMR=0.0050;ExAC_EAS=0.0036;ExAC_FIN=0.0009;ExAC_NFE=0.0057;ExAC_OTH=0.0075;ExAC_SAS=0.0185;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0033;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0134;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0035;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-458.68,0,-1218.42:1201:529:347:8261:16996:529,347 . . . . . . . . . . . . . . . . . . chr2 220283259 . A G 8481.79 . AB=0;ABP=0;AC=228;AF=1;AN=230;AO=315;CIGAR=1X;DP=51407;DPB=319;DPRA=0;EPP=14.5984;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=24.8921;MQMR=23;NS=1;NUMALT=1;ODDS=434.578;PAIRED=0.809524;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8880;QR=14;RO=1;RPL=140;RPP=11.4549;RPPR=5.18177;RPR=175;RUN=1;SAF=167;SAP=5.49888;SAR=148;SF=0,1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.A75G:p.P25P;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.8972;esp6500siv2_ea=0.9877;esp6500siv2_all=0.8972;esp6500siv2_ea=0.9877;1000g2015aug_all=0.886182;avsnp147=rs1318299;Kaviar_AF=0.877634;Kaviar_AC=135684;Kaviar_AN=154602;ExAC_ALL=0.9652;ExAC_AFR=0.6654;ExAC_AMR=0.9818;ExAC_EAS=0.9996;ExAC_FIN=0.9978;ExAC_NFE=0.9889;ExAC_OTH=0.9711;ExAC_SAS=0.9748;CLNALLELEID=44666;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9680;gnomAD_exome_AFR=0.6441;gnomAD_exome_AMR=0.9791;gnomAD_exome_ASJ=0.9883;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=0.9975;gnomAD_exome_NFE=0.9886;gnomAD_exome_OTH=0.9778;gnomAD_exome_SAS=0.9736;gnomAD_genome_ALL=0.8972;gnomAD_genome_AFR=0.6583;gnomAD_genome_AMR=0.9844;gnomAD_genome_ASJ=0.9834;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9977;gnomAD_genome_NFE=0.9896;gnomAD_genome_OTH=0.9756;Whole_Blood=Whole_Blood::0.0582656::-0.35563;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-561.438,-93.905,0:319:1:315:8880:14 1/1:-893.902,-152.321,0:516:0:506:14718:0 1/1:-732.893,-121.917,0:410:0:405:11740:0 1/1:-613.002,-100.815,0:341:1:336:10034:14 1/1:-733.918,-127.035,0:426:0:422:12058:0 1/1:-1111.65,-187.138,0:642:3:630:17740:55 1/1:-569.895,-99.3399,0:338:0:330:9441:0 1/1:-802.554,-134.861,0:454:0:448:12901:0 1/1:-635.618,-113.543,0:385:1:377:10991:14 1/1:-1011.85,-158.192,0:535:2:528:15479:50 1/1:-641.289,-111.682,0:378:0:371:10811:0 1/1:-798.413,-130.097,0:440:1:432:12353:14 1/1:-824.545,-131.18,0:460:2:455:13050:72 1/1:-594.957,-97.2327,0:328:0:323:9282:0 1/1:-522.33,-86.9977,0:292:0:289:8348:0 1/1:-756.609,-122.241,0:420:2:409:11957:41 1/1:-659.919,-108.726,0:369:1:361:10327:14 1/1:-1765.56,-286.447,0:975:4:958:27784:56 1/1:-450.15,-74.3544,0:248:0:247:7317:0 1/1:-985.622,-161.396,0:540:1:536:15683:32 1/1:-435.103,-68.0109,0:230:1:227:6756:14 1/1:-583.314,-97.2891,0:330:1:323:9253:14 1/1:-443.467,-74.0189,0:253:1:247:7189:14 1/1:-1160.86,-195.971,0:664:0:651:18865:0 1/1:-544.349,-93.6203,0:319:0:311:9095:0 1/1:-686.273,-121.315,0:413:0:403:11551:0 1/1:-749.085,-129.744,0:442:0:431:12299:0 1/1:-412.405,-69.9006,0:244:2:235:6953:68 1/1:-662.06,-109.876,0:370:0:365:10416:0 1/1:-772.04,-129.443,0:440:0:430:12201:0 1/1:-429.788,-73.4513,0:246:0:244:7035:0 1/1:-1071.02,-181.809,0:618:1:607:17334:14 1/1:-759.814,-128.841,0:437:0:428:11919:0 1/1:-355.261,-60.8507,0:206:1:202:6129:21 1/1:-923.573,-155.331,0:523:0:516:15075:0 1/1:-880.515,-146.59,0:497:1:490:13755:14 1/1:-504.177,-80.375,0:273:0:267:8113:0 1/1:-742.127,-120.711,0:413:1:411:12170:36 1/1:-708.045,-117.43,0:399:2:393:11240:35 1/1:-315.826,-51.4761,0:174:0:171:5090:0 1/1:-1214.37,-201.955,0:681:1:672:19417:14 1/1:-671.563,-118.078,0:408:3:395:11358:55 1/1:-493.497,-86.9977,0:293:0:289:8464:0 1/1:-654.705,-101.447,0:345:0:337:9678:0 1/1:-1182.55,-198.823,0:673:2:663:19297:41 1/1:-415.864,-70.4327,0:252:3:245:7376:82 1/1:-864.193,-148.338,0:501:1:496:14493:14 1/1:-548.4,-88.5028,0:297:0:294:8403:0 1/1:-312.727,-51.2213,0:173:1:170:5096:14 1/1:-1057.5,-179.124,0:609:2:596:17312:28 0/1:-319.035,0,-294.192:599:261:301:8220:6358 1/1:-883.545,-158.342,0:544:0:526:15012:0 1/1:-1251.88,-202.526,0:696:3:680:19975:42 1/1:-1015.9,-169.48,0:572:0:563:16350:0 1/1:-557.476,-91.5131,0:308:0:304:8858:0 1/1:-795.776,-140.581,0:481:0:467:13170:0 1/1:-803.148,-136.33,0:462:1:454:12843:14 1/1:-470.561,-82.1594,0:279:1:276:7864:14 1/1:-372.283,-63.7884,0:218:1:213:6353:14 1/1:-614.731,-100.799,0:345:1:336:9642:14 1/1:-537.971,-93.0183,0:315:0:309:8783:0 1/1:-990.247,-160.877,0:552:3:540:15863:64 1/1:-735.175,-119.793,0:408:1:401:11424:14 1/1:-592.647,-94.8962,0:332:1:321:9465:32 1/1:-1049.95,-173.995,0:588:0:578:17004:0 1/1:-829.526,-136.652,0:469:1:457:13283:14 1/1:-509.471,-90.61,0:306:0:301:8788:0 1/1:-635.776,-100.184,0:347:1:336:9901:14 1/1:-460.214,-81.2781,0:271:0:270:7837:0 1/1:-695.012,-119.509,0:404:0:397:11679:0 1/1:-637.332,-106.866,0:360:0:355:10140:0 1/1:-1209.09,-190.208,0:639:1:633:18894:14 1/1:-1016.92,-169.179,0:571:0:562:16141:0 1/1:-438.179,-87.9008,0:301:0:292:7594:0 1/1:-604.311,-99.5219,0:341:1:332:9450:36 1/1:-673.423,-121.014,0:407:0:402:11269:0 1/1:-790.107,-124.066,0:437:3:428:12408:64 1/1:-1084.24,-174.348,0:591:1:579:17072:14 1/1:-666.98,-107.769,0:366:0:358:10468:0 1/1:-204.677,-35.5215,0:119:0:118:3357:0 1/1:-899.799,-151.771,0:514:1:504:14585:14 1/1:-954.563,-163.215,0:550:1:542:15551:14 1/1:-762.561,-135.519,0:455:1:450:13129:14 1/1:-680.499,-120.111,0:405:0:399:11400:0 1/1:-502.774,-88.8531,0:299:1:295:8400:27 1/1:-827.827,-141.785,0:475:0:471:13624:0 1/1:-568.541,-94.5234,0:315:0:314:9192:0 1/1:-739.468,-123.723,0:418:0:411:12276:0 1/1:-539.561,-87.5997,0:296:0:291:8479:0 1/1:-628.674,-108.36,0:365:1:363:10882:14 1/1:-1253.82,-213.129,0:715:0:708:20339:0 1/1:-674.548,-108.06,0:368:1:362:10521:14 1/1:-1132.99,-182.55,0:629:5:612:17661:70 1/1:-835.795,-140.882,0:476:0:468:13700:0 1/1:-995.42,-163.158,0:549:0:542:15707:0 . 1/1:-1246.11,-140.882,0:473:0:468:14577:0:0,468 1/1:-1402.37,-162.499,0:551:1:543:16819:14:1,543 1/1:-1510.88,-172.49,0:575:0:573:17892:0:0,573 1/1:-635.459,-73.4513,0:246:0:244:7641:0:0,244 0/1:-447.62,0,-476.086:513:261:231:7134:7211:261,231 1/1:-1745.62,-200.164,0:677:1:668:20974:14:1,668 1/1:-1491.33,-171.286,0:573:0:569:17797:0:0,569 1/1:-1466.2,-166.827,0:559:1:554:17437:32:1,554 1/1:-1441.32,-165.868,0:562:0:551:16990:0:0,551 1/1:-1746.27,-197.421,0:675:1:659:20819:14:1,659 1/1:-1673.02,-193.863,0:651:0:644:20136:0:0,644 1/1:-1389.43,-155.934,0:523:0:518:16577:0:0,518 1/1:-1435.92,-164.663,0:551:0:547:17120:0:0,547 1/1:-1379.23,-160.635,0:548:2:540:16932:28:2,540 1/1:-1793.72,-203.195,0:680:0:675:21150:0:0,675 1/1:-1491.53,-170.912,0:583:2:576:18041:46:2,576 1/1:-1655.49,-187.822,0:636:1:627:19697:14:1,627 1/1:-1601.91,-180.317,0:605:0:599:18898:0:0,599 1/1:-1512.44,-171.888,0:578:0:571:17920:0:0,571 1/1:-1700.9,-193.253,0:652:1:645:20366:14:1,645 chr2 220283275 . AGT AGC,CGT 6868.96 . AB=0;ABP=0;AC=8,0;AF=0;AN=28;AO=31;CIGAR=1X;DP=8640;DPB=591;DPRA=0;EPP=28.2974;EPPR=15.6766;GTI=0;LEN=1;MEANALT=3;MQM=32;MQMR=38.7792;NS=1;NUMALT=1;ODDS=583.338;PAIRED=0.870968;PAIREDR=0.912029;PAO=0;PQA=0;PQR=0;PRO=0;QA=777;QR=16359;RO=557;RPL=21;RPP=11.486;RPPR=49.3285;RPR=10;RUN=1;SAF=27;SAP=40.0654;SAR=4;SF=1;SRF=289;SRP=4.72954;SRR=268;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=DES:NM_001927:exon1:c.93delT:p.S31fs\x3bDES:NM_001927:exon1:c.93delT:p.S31fs;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.A91C:p.S31R;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.255;SIFT_pred=T;Polyphen2_HDIV_score=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_pred=B;LRT_score=0.060;LRT_pred=N;MutationTaster_score=0.825;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-1.84;FATHMM_pred=D;PROVEAN_score=-0.99;PROVEAN_pred=N;VEST3_score=0.534;CADD_raw=1.765;CADD_phred=14.78;DANN_score=0.964;fathmm-MKL_coding_score=0.369;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.623;MetaSVM_pred=T;MetaLR_score=0.355;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.06;phyloP7way_vertebrate=-0.193;phyloP20way_mammalian=0.170;phastCons7way_vertebrate=0.894;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=7.374;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-1322.15:591:557:.,31:.,777:16359:557,31 . . 1/1:-1696.22,-190.552,0,.,.,.:700:0:633,.:20230,.:0:0,633 0/0:.,.,.,.,.,-1231.41:575:534:.,37:.,900:15568:534,37 0/0:.,.,.,.,.,-1298.27:581:541:.,36:.,849:16101:541,36 1/1:-1418.71,-158.396,0,.,.,.:582:1:527,.:16770,.:22:1,527 . 1/1:-1627.06,-185.736,0,.,.,.:666:0:611,.:19545,.:0:0,611 0/0:.,.,.,.,.,-1182.81:540:508:.,31:.,740:14816:508,31 0/0:.,.,.,.,.,-1216.32:570:532:.,34:.,829:15352:532,34 0/0:.,.,.,.,.,-1217.68:578:542:.,33:.,769:15571:542,33 0/0:.,.,.,.,.,-1502.6:692:648:.,39:.,966:18852:648,39 . 0/0:.,.,.,.,.,-1466.74:657:618:.,34:.,845:18184:618,34 1/1:-1510.86,-169.179,0,.,.,.:602:0:556,.:17924,.:0:0,556 0/0:.,.,.,.,.,-1358.24:622:584:.,35:.,863:17038:584,35 0/0:.,.,.,.,.,-1503.68:684:640:.,35:.,836:18818:640,35 chr2 220283276 . GT GC 15650.08 . AB=0;ABP=0;AC=20;AF=1;AN=20;AO=584;CIGAR=1M1X;DP=6098;DPB=591;DPRA=0;EPP=34.4818;EPPR=0;GTI=0;LEN=1;MEANALT=5;MQM=38.4897;MQMR=0;NS=1;NUMALT=1;ODDS=814.201;PAIRED=0.910959;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=18457;QR=0;RO=0;RPL=378;RPP=113.012;RPPR=0;RPR=206;RUN=1;SAF=312;SAP=8.95954;SAR=272;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=DES:NM_001927:exon1:c.93delT:p.S31fs\x3bDES:NM_001927:exon1:c.93delT:p.S31fs;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1551.57,-175.802,0:591:0:584:18457:0:0,584 . . . 1/1:-1499.56,-166.643,0:575:1:557:18014:25:1,557 1/1:-1512.53,-170.383,0:579:0:564:18007:0:0,564 . . . 1/1:-1413.06,-160.449,0:542:0:530:16906:0:0,530 1/1:-1466.51,-166.753,0:571:1:557:17592:14:1,557 1/1:-1442.28,-167.505,0:579:1:559:17656:20:1,559 1/1:-1835.38,-204.399,0:695:0:679:21764:0:0,679 . 1/1:-1701.39,-192.004,0:658:1:641:20282:14:1,641 . 1/1:-1633.72,-184.531,0:622:0:611:19338:0:0,611 1/1:-1783.49,-201.014,0:686:1:669:21327:17:1,669 chr2 220283277 . T C 8333.54 . AB=0;ABP=0;AC=200;AF=1;AN=202;AO=325;CIGAR=1X;DP=45592;DPB=334;DPRA=0;EPP=40.5935;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=24.5569;MQMR=3;NS=1;NUMALT=1;ODDS=448.433;PAIRED=0.821538;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9313;QR=35;RO=2;RPL=194;RPP=29.529;RPPR=7.35324;RPR=131;RUN=1;SAF=165;SAP=3.17734;SAR=160;SF=0,1;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.T93C:p.S31S;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.8794;esp6500siv2_ea=0.9880;esp6500siv2_all=0.8794;esp6500siv2_ea=0.9880;1000g2015aug_all=0.866014;avsnp147=rs2017800;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.9611;ExAC_AFR=0.6090;ExAC_AMR=0.9793;ExAC_EAS=0.9998;ExAC_FIN=0.9977;ExAC_NFE=0.9886;ExAC_OTH=0.9706;ExAC_SAS=0.9749;CLNALLELEID=44667;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9641;gnomAD_exome_AFR=0.5932;gnomAD_exome_AMR=0.9758;gnomAD_exome_ASJ=0.9882;gnomAD_exome_EAS=0.9998;gnomAD_exome_FIN=0.9975;gnomAD_exome_NFE=0.9882;gnomAD_exome_OTH=0.9759;gnomAD_exome_SAS=0.9737;gnomAD_genome_ALL=0.8806;gnomAD_genome_AFR=0.6009;gnomAD_genome_AMR=0.9808;gnomAD_genome_ASJ=0.9834;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9980;gnomAD_genome_NFE=0.9892;gnomAD_genome_OTH=0.9705;Whole_Blood=Whole_Blood::0.0609756::-0.317287;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-582.655,-97.9349,0:334:2:325:9313:35 1/1:-950.116,-165.265,0:558:0:549:15487:0 1/1:-736.342,-124.902,0:424:1:418:11834:14 1/1:-632.449,-107.758,0:364:1:361:10256:14 1/1:-802.354,-136.367,0:460:0:453:13107:0 1/1:-1181.55,-198.732,0:675:1:660:18763:14 1/1:-579.13,-102.651,0:343:0:341:9699:0 1/1:-849.557,-142.403,0:484:2:474:13690:28 1/1:-672.279,-120.111,0:405:0:399:11218:0 1/1:-1037.34,-164.649,0:560:1:550:15872:14 1/1:-652.615,-113.488,0:385:0:377:10878:0 1/1:-810.256,-135.765,0:462:0:451:12889:0 1/1:-888.655,-144.795,0:491:0:481:14046:0 1/1:-608.796,-101.447,0:346:0:337:9473:0 1/1:-559.646,-86.6933,0:312:2:307:9079:72 1/1:-805.349,-135.582,0:458:2:450:12875:28 1/1:-686.886,-116.186,0:398:1:389:11037:14 1/1:-1904.38,-312.469,0:1053:0:1038:29903:0 1/1:-517.436,-85.166,0:290:1:286:8373:14 1/1:-1030.15,-170.383,0:569:0:566:16275:0 1/1:-428.333,-69.2369,0:233:0:230:6504:0 1/1:-673.728,-113.254,0:379:1:376:10685:32 1/1:-515.106,-83.6863,0:285:0:278:7805:0 1/1:-1187.75,-202.593,0:684:0:673:18971:0 1/1:-598.033,-102.941,0:345:1:343:9947:14 1/1:-696.868,-125.831,0:424:0:418:11767:0 1/1:-860.127,-146.602,0:497:0:487:13703:0 1/1:-489.349,-81.3753,0:288:5:277:7967:84 1/1:-669.457,-113.187,0:381:0:376:10259:0 1/1:-852.889,-141.484,0:476:0:470:13411:0 1/1:-459.232,-80.074,0:270:0:266:7555:0 1/1:-1090.5,-189.609,0:644:1:631:17612:14 1/1:-826.039,-139.076,0:472:0:462:12989:0 1/1:-372.987,-65.3235,0:221:0:217:6496:0 1/1:-921.048,-156.536,0:529:0:520:14840:0 1/1:-955.708,-155.633,0:526:0:517:14799:0 1/1:-517.179,-84.849,0:291:1:283:8179:14 1/1:-831.091,-136.066,0:458:0:452:13299:0 1/1:-749.184,-125.281,0:427:1:416:12286:14 1/1:-376.35,-61.1091,0:209:0:203:6032:0 1/1:-1318.31,-216.742,0:726:0:720:20822:0 1/1:-735.402,-129.423,0:438:1:433:12397:14 1/1:-544.659,-96.9317,0:326:0:322:9012:0 1/1:-670.998,-105.122,0:353:1:349:10073:14 1/1:-1250.32,-213.616,0:723:1:711:20276:36 1/1:-475.104,-81.6361,0:277:1:271:7853:14 1/1:-877.816,-154.984,0:530:1:521:14814:36 1/1:-600.562,-95.4265,0:321:0:317:9079:0 1/1:-344.482,-58.7009,0:196:0:195:5769:0 1/1:-1106.08,-188.144,0:630:0:625:17840:0 0/1:-359.106,0,-328.357:629:270:320:8898:6893 1/1:-902.588,-161.16,0:558:2:547:15256:46 1/1:-1319.86,-219.408,0:742:1:730:20764:14 1/1:-1016.95,-176.103,0:595:0:585:16454:0 1/1:-561.835,-94.5129,0:324:1:317:9355:14 1/1:-826.778,-147.806,0:499:0:491:13520:0 1/1:-871.68,-149.913,0:501:0:498:13816:0 1/1:-479.768,-86.1114,0:296:2:287:7937:28 1/1:-401.413,-69.5379,0:233:0:231:6758:0 1/1:-617.992,-106.565,0:359:0:354:10051:0 1/1:-573.529,-99.942,0:336:0:332:9556:0 1/1:-1063.29,-170.927,0:593:2:582:16815:59 1/1:-736.128,-124.927,0:420:0:415:11546:0 1/1:-620.428,-104.457,0:352:0:347:9888:0 1/1:-1099.61,-185.381,0:632:2:620:17107:28 1/1:-847.552,-143.022,0:488:2:478:13693:28 1/1:-539.894,-96.3296,0:328:0:320:9170:0 1/1:-643.359,-103.855,0:346:0:345:9879:0 1/1:-492.415,-84.9352,0:288:1:282:8026:32 1/1:-726.441,-126.488,0:427:1:420:12323:14 1/1:-673.832,-114.434,0:387:1:380:10572:21 1/1:-1258.16,-200.175,0:676:1:668:19365:14 1/1:-1066.63,-176.68,0:602:3:591:17006:55 1/1:-481.747,-93.0691,0:322:1:309:8229:14 1/1:-652.527,-106.963,0:369:1:360:10241:21 1/1:-737.288,-129.142,0:440:0:429:12019:0 1/1:-838.85,-137.571,0:463:0:457:13217:0 1/1:-1120.2,-186.639,0:630:0:620:17595:0 1/1:-690.561,-113.379,0:389:2:381:11010:35 1/1:-223.836,-39.1339,0:134:0:130:3740:0 1/1:-930.388,-163.209,0:554:1:542:15173:14 1/1:-960.23,-166.73,0:566:1:555:15556:14 1/1:-798.09,-143.055,0:480:1:475:13414:14 1/1:-717.988,-131.851,0:442:0:438:12056:0 1/1:-541.439,-94.0424,0:317:2:312:9005:28 1/1:-822.626,-144.494,0:487:0:480:13505:0 1/1:-593.391,-99.0232,0:334:1:330:9562:14 1/1:-772.701,-131.603,0:444:1:437:12508:14 1/1:-542.663,-90.008,0:299:0:299:8709:0 1/1:-650.998,-117.703,0:397:0:391:11099:0 1/1:-1348.71,-226.375,0:759:0:752:21582:0 1/1:-727.905,-118.606,0:401:0:394:10989:0 1/1:-1187.48,-193.863,0:655:0:644:18420:0 1/1:-886.735,-153.279,0:518:1:509:14511:14 1/1:-985.498,-169.48,0:572:0:563:15562:0 . 1/1:-1277.44,-142.688,0:477:0:474:15015:0:0,474 1/1:-1431.99,-163.457,0:551:1:546:17186:14:1,546 . 1/1:-669.792,-76.1625,0:260:1:256:8172:14:1,256 0/1:-501.878,0,-491.721:528:261:252:7832:7535:261,252 . . . . 1/1:-1711.74,-193.261,0:647:0:642:20457:0:0,642 . . . . . 1/1:-1581.68,-179.617,0:616:3:606:19160:42:3,606 . . . . chr2 220283592 . C T 2262.20 . AB=0.443262;ABP=18.7804;AC=8;AF=0.5;AN=16;AO=250;CIGAR=1X;DP=3369;DPB=564;DPRA=0;EPP=24.725;EPPR=57.7314;GTI=0;LEN=1;MEANALT=3;MQM=29.528;MQMR=30.9607;NS=1;NUMALT=1;ODDS=645.926;PAIRED=0.924;PAIREDR=0.896429;PAO=0;PQA=0;PQR=0;PRO=0;QA=6261;QR=8301;RO=280;RPL=166;RPP=61.4142;RPPR=27.3308;RPR=84;RUN=1;SAF=136;SAP=7.21427;SAR=114;SF=0,1;SRF=116;SRP=20.8784;SRR=164;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.C408T:p.L136L;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.0255;esp6500siv2_ea=0.0352;esp6500siv2_all=0.0255;esp6500siv2_ea=0.0352;1000g2015aug_all=0.0123802;avsnp147=rs111828114;Kaviar_AF=0.0179817;Kaviar_AC=2780;Kaviar_AN=154602;ExAC_ALL=0.0412;ExAC_AFR=0.0083;ExAC_AMR=0.0399;ExAC_EAS=0;ExAC_FIN=0.1170;ExAC_NFE=0.0753;ExAC_OTH=0.0487;ExAC_SAS=0.0064;CLNALLELEID=53429;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0265;gnomAD_exome_AFR=0.0055;gnomAD_exome_AMR=0.0194;gnomAD_exome_ASJ=0.0322;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0441;gnomAD_exome_NFE=0.0384;gnomAD_exome_OTH=0.0380;gnomAD_exome_SAS=0.0049;gnomAD_genome_ALL=0.0304;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0461;gnomAD_genome_NFE=0.0435;gnomAD_genome_OTH=0.0398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-296.765,0,-442.022:564:280:250:6261:8301 . . . . 0/1:-212.424,0,-295.172:408:197:187:4519:5955 . . . . . . . . . . . . . 0/1:-233.583,0,-368.169:477:237:214:4969:7122 0/1:-189.205,0,-286.305:365:175:165:4017:5301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-152.843,0,-218.595:307:153:134:3340:4386 . . . . . . . . . . . . . . . . 0/1:-183.685,0,-368.535:393:220:161:3893:6712 . 0/1:-221.617,0,-419.572:445:240:194:4666:7372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-372.836,0,-377.405:410:185:218:5804:5948:185,218 . . . . . . . . chr2 220284778 . TC TT 30771.80 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1373;CIGAR=1M1X;DP=1442;DPB=1445;DPRA=0;EPP=114.075;EPPR=7.35324;GTI=0;LEN=1;MEANALT=10;MQM=36.4501;MQMR=35;NS=1;NUMALT=1;ODDS=1842.18;PAIRED=0.859432;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=40923;QR=201;RO=8;RPL=115;RPP=2069.23;RPPR=20.3821;RPR=1258;RUN=1;SAF=762;SAP=39.0713;SAR=611;SF=1;SRF=6;SRP=7.35324;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3334.05,-398.501,0:1442:8:1373:40923:201:8,1373 . . . . . . . . . . . . . . chr2 220284779 . C T 16378.30 . AB=0.49595;ABP=3.16862;AC=147;AF=0.5;AN=196;AO=551;CIGAR=1X;DP=121883;DPB=1111;DPRA=0;EPP=68.5919;EPPR=36.2796;GTI=0;LEN=1;MEANALT=3;MQM=32.7786;MQMR=33.2689;NS=1;NUMALT=1;ODDS=1585.64;PAIRED=0.820327;PAIREDR=0.802708;PAO=0;PQA=0;PQR=0;PRO=0;QA=16080;QR=14402;RO=517;RPL=37;RPP=899.694;RPPR=761.661;RPR=514;RUN=1;SAF=315;SAP=27.6059;SAR=236;SF=0,1;SRF=267;SRP=4.22414;SRR=250;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.4796;esp6500siv2_ea=0.6303;esp6500siv2_all=0.4796;esp6500siv2_ea=0.6303;1000g2015aug_all=0.529353;avsnp147=rs12991025;Kaviar_AF=0.601318;Kaviar_AC=92965;Kaviar_AN=154602;ExAC_ALL=0.6169;ExAC_AFR=0.1601;ExAC_AMR=0.6753;ExAC_EAS=0.8116;ExAC_FIN=0.7292;ExAC_NFE=0.6272;ExAC_OTH=0.6178;ExAC_SAS=0.6755;CLNALLELEID=250577;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1315;dpsi_zscore=0.571;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6287;gnomAD_exome_AFR=0.1530;gnomAD_exome_AMR=0.6648;gnomAD_exome_ASJ=0.5607;gnomAD_exome_EAS=0.8089;gnomAD_exome_FIN=0.7188;gnomAD_exome_NFE=0.6307;gnomAD_exome_OTH=0.6218;gnomAD_exome_SAS=0.6754;gnomAD_genome_ALL=0.5274;gnomAD_genome_AFR=0.1659;gnomAD_genome_AMR=0.6420;gnomAD_genome_ASJ=0.5530;gnomAD_genome_EAS=0.8007;gnomAD_genome_FIN=0.7249;gnomAD_genome_NFE=0.6482;gnomAD_genome_OTH=0.6360;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-911.312,0,-787.6:1111:517:551:16080:14402 . 0/1:-904.989,0,-799.495:1124:516:573:16318:14160 1/1:-1619.61,-211.027,0:771:8:750:21115:222 0/1:-806.293,0,-956.411:1190:595:545:15067:16682 1/1:-3359.92,-448.631,0:1623:12:1555:43720:303 0/1:-929.947,0,-623.797:1051:439:569:15934:12230 . 0/1:-864.118,0,-886.803:1181:565:561:15799:15671 0/1:-990.288,0,-1013.35:1334:647:637:17846:18132 0/1:-829.548,0,-806.659:1128:547:535:14969:14905 0/1:-860.78,0,-954.488:1225:610:575:15892:16598 0/1:-776.77,0,-838.654:1104:530:523:14538:14785 0/1:-703.763,0,-768.877:1021:496:489:13722:13920 . 0/1:-1426.23,0,-1480.91:1891:930:903:25504:26299 0/1:-568.319,0,-612.968:850:402:408:11346:11332 1/1:-5600.28,-762.163,0:2709:16:2615:73241:409 0/1:-925.617,0,-895.253:1179:574:571:16389:15833 0/1:-617.882,0,-744.262:943:478:435:11797:12894 1/1:-1905.48,-260.668,0:938:10:900:24956:181 0/1:-1070.22,0,-1115.03:1472:720:691:19274:20036 . 1/1:-3460.93,-467.982,0:1674:9:1603:44576:219 1/1:-2772.49,-369.079,0:1340:14:1284:36138:269 1/1:-1641.69,-239.881,0:863:7:826:22485:155 . 0/1:-872.688,0,-905.038:1165:565:565:15513:15708 0/1:-634.565,0,-583.966:882:411:434:11840:11283 1/1:-2083.22,-284.466,0:1024:9:984:27267:191 1/1:-2345.33,-317.652,0:1122:7:1091:30678:190 1/1:-3117.7,-423.789,0:1507:11:1445:40560:189 1/1:-2958.86,-387.618,0:1444:18:1387:38679:441 0/1:-1023.85,0,-885.335:1285:581:647:17878:16249 . 0/1:-1274.06,0,-942.508:1441:627:769:21447:17558 0/1:-1078.22,0,-1131.18:1488:713:715:19346:20105 1/1:-2654.79,-365.158,0:1255:5:1220:34435:92 0/1:-874.47,0,-840.938:1191:570:573:16226:15482 . 0/1:-1217.49,0,-1043.75:1511:666:783:21672:18705 1/1:-2545.28,-335.167,0:1251:17:1199:33693:387 . 1/1:-2496.63,-340.931,0:1221:8:1174:32645:204 1/1:-3003.98,-390.482,0:1467:21:1409:39499:564 1/1:-2784.76,-363.381,0:1327:16:1277:36004:370 1/1:-2613.7,-364.166,0:1261:3:1225:34150:78 0/1:-604.656,0,-515.837:758:340:392:10666:9409 . . 0/1:-1126.67,0,-1111.28:1459:695:704:19973:19303 1/1:-1982.46,-274.148,0:1068:18:1014:27422:477 . 1/1:-3267.38,-437.03,0:1577:15:1530:43045:382 1/1:-1317.76,-190.636,0:694:7:660:18090:142 0/1:-833.097,0,-713.241:1009:467:503:14326:12969 . 0/1:-458.437,0,-423.5:633:302:302:8540:8226 1/1:-1678.55,-217.374,0:836:14:793:22014:388 1/1:-2767.18,-360.934,0:1376:22:1312:36770:545 1/1:-1395.2,-198.623,0:713:4:684:18762:96 1/1:-3126.83,-415.907,0:1544:22:1491:41406:542 1/1:-2429.22,-305.513,0:1149:15:1098:31446:357 1/1:-1583.4,-220.742,0:823:10:789:21504:272 1/1:-3165.12,-411.424,0:1573:19:1506:41363:560 0/1:-925.053,0,-954.095:1271:617:611:16854:16929 0/1:-497.293,0,-450.528:668:302:337:9231:8585 0/1:-869.463,0,-811.187:1111:538:534:15180:14736 0/1:-690.968,0,-815.075:1028:514:481:12918:14439 0/1:-828.594,0,-941.594:1243:597:584:16044:16721 . 0/1:-1407.4,0,-1263.03:1715:810:854:24321:22511 0/1:-1192.06,0,-968.858:1463:661:745:21110:17931 0/1:-493.621,0,-465.497:722:331:358:9878:9165 1/1:-2090.62,-273.307,0:1001:10:965:27509:275 1/1:-3091.96,-409.085,0:1531:21:1459:40619:430 1/1:-2817.76,-371.189,0:1378:19:1327:36928:439 1/1:-3083.02,-418.951,0:1499:13:1446:40468:323 0/1:-601.063,0,-515.734:764:355:390:10664:9677 0/1:-548.255,0,-518.111:697:327:346:9736:9267 1/1:-2705.25,-366.367,0:1353:14:1292:35590:341 1/1:-3006.73,-416.2,0:1506:15:1442:40155:314 0/1:-988.676,0,-998.863:1338:635:653:17967:17691 1/1:-2203.26,-300.541,0:1078:9:1036:28950:190 1/1:-2256.9,-310.156,0:1113:8:1066:29345:187 1/1:-2325.96,-329.456,0:1159:4:1120:30520:113 0/1:-687.701,0,-612.319:887:420:431:12420:11474 1/1:-2251.07,-295.633,0:1110:12:1062:29378:312 1/1:-1360.6,-183.566,0:663:5:635:17612:114 0/1:-1022.74,0,-838.269:1222:578:609:17492:15691 0/1:-1383.55,0,-1228.23:1697:772:861:23924:21758 1/1:-2430.7,-347.188,0:1228:6:1179:32420:119 1/1:-2981.74,-410.285,0:1450:6:1399:39437:163 1/1:-2685.63,-362.146,0:1317:11:1268:35219:260 1/1:-2900.11,-397.299,0:1401:4:1349:37494:113 . 0/1:-1553.44,0,-1358.22:1629:740:819:24430:21903:740,819 0/1:-1379.15,0,-1221.38:1459:670:727:21835:19439:670,727 0/1:-1595.7,0,-1435.39:1639:768:809:24916:22716:768,809 0/1:-892.939,0,-773.069:956:434:482:14304:12638:434,482 0/1:-1172.92,0,-1092.67:1270:595:630:18969:17671:595,630 . 1/1:-3301.18,-379.508,0:1367:11:1332:40405:289:11,1332 0/1:-1376.82,0,-1398.79:1575:779:746:22211:22730:779,746 0/1:-1310.63,0,-1165.26:1381:648:687:20629:18818:648,687 0/1:-1434.34,0,-1292.67:1541:711:774:22873:20801:711,774 . 1/1:-2764.7,-304.124,0:1144:14:1114:33768:437:14,1114 1/1:-3015.86,-333.839,0:1265:15:1221:37019:458:15,1221 1/1:-3148.15,-370.573,0:1324:8:1289:38377:238:8,1289 1/1:-4176.12,-477.341,0:1757:20:1712:51125:545:20,1712 1/1:-3139.69,-377.878,0:1325:5:1294:38598:149:5,1294 . . 0/1:-1249.14,0,-1049.8:1272:594:645:19560:17215:594,645 1/1:-3829.43,-444.509,0:1590:9:1542:46609:254:9,1542 chr2 220284876 . C T 15259.61 . AB=0.450124;ABP=90.0869;AC=4;AF=0.5;AN=8;AO=1814;CIGAR=1X;DP=9380;DPB=4030;DPRA=0;EPP=13.5875;EPPR=21.6114;GTI=0;LEN=1;MEANALT=3;MQM=33.7701;MQMR=34.7153;NS=1;NUMALT=1;ODDS=6112.75;PAIRED=0.800441;PAIREDR=0.813559;PAO=0;PQA=0;PQR=0;PRO=0;QA=49422;QR=62231;RO=2065;RPL=1041;RPP=88.9882;RPPR=8.01678;RPR=773;RUN=1;SAF=699;SAP=210.169;SAR=1115;SF=0;SRF=767;SRP=299.509;SRR=1298;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon2:c.C638T:p.A213V;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0137;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0137;1000g2015aug_all=0.00559105;avsnp147=rs41272699;Kaviar_AF=0.0106014;Kaviar_AC=1639;Kaviar_AN=154602;ExAC_ALL=0.0101;ExAC_AFR=0.0034;ExAC_AMR=0.0053;ExAC_EAS=0;ExAC_FIN=0.0088;ExAC_NFE=0.0153;ExAC_OTH=0.0077;ExAC_SAS=0.0032;CLNALLELEID=53432;CLNDN=Congenital_diaphragmatic_hernia|Scapuloperoneal_weakness|Myofibrillar_myopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Gene:1732,MeSH:D065630,MedGen:C1840644,OMIM:142340|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.42;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.981;MutationTaster_pred=D;MutationAssessor_score=1.265;MutationAssessor_pred=L;FATHMM_score=-2.49;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_pred=N;VEST3_score=0.227;CADD_raw=5.554;CADD_phred=26.4;DANN_score=0.999;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_pred=D;MetaSVM_score=0.004;MetaSVM_pred=D;MetaLR_score=0.405;MetaLR_pred=T;integrated_fitCons_score=0.677;integrated_confidence_value=0;GERP++_RS=3.67;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.807;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=14.599;GDI_full_10282015=.;dpsi_max_tissue=0.0694;dpsi_zscore=0.379;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM117560#"Heart_dilation_association_with";gnomAD_exome_ALL=0.0093;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0080;gnomAD_exome_NFE=0.0153;gnomAD_exome_OTH=0.0093;gnomAD_exome_SAS=0.0033;gnomAD_genome_ALL=0.0098;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0106;gnomAD_genome_NFE=0.0150;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-2697.91,0,-3671.46:4030:2065:1814:49422:62231 . . . . . . . . . . . . . . . . . . . 0/1:-1303.78,0,-1814.01:1895:963:848:23144:29615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-739.623,0,-1092.46:1167:599:517:13716:18122 . . . . . . . . . . . . 0/1:-1461.62,0,-2201.91:2288:1208:999:27276:36810 . . . . . . . . . . . . . . . . . . . . . . . chr2 220285002 . T C 15565.84 . AB=0.45995;ABP=30.6662;AC=2;AF=0.5;AN=4;AO=913;CIGAR=1X;DP=3778;DPB=1985;DPRA=0;EPP=10.2049;EPPR=75.3751;GTI=0;LEN=1;MEANALT=3;MQM=34.713;MQMR=35.8043;NS=1;NUMALT=1;ODDS=3495.58;PAIRED=0.877327;PAIREDR=0.902629;PAO=0;PQA=0;PQR=0;PRO=0;QA=26894;QR=32579;RO=1027;RPL=497;RPP=18.6149;RPPR=22.0926;RPR=416;RUN=1;SAF=471;SAP=5.01053;SAR=442;SF=0,1;SRF=513;SRP=3.01241;SRR=514;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon3:c.T669C:p.I223I;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.0265;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0265;esp6500siv2_ea=0.0008;1000g2015aug_all=0.029353;avsnp147=rs75882680;Kaviar_AF=0.0083181;Kaviar_AC=1286;Kaviar_AN=154602;ExAC_ALL=0.0086;ExAC_AFR=0.0880;ExAC_AMR=0.0054;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0088;ExAC_SAS=0.0001;CLNALLELEID=44665;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1823;dpsi_zscore=0.688;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0907;gnomAD_exome_AMR=0.0068;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0274;gnomAD_genome_AFR=0.0937;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1530.52,0,-1983.73:1985:1027:913:26894:32579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1755.55,0,-1957.55:1793:922:852:26957:29464:922,852 . . . . . . . . . . . . . . . chr2 220285088 . C T 7585.76 . AB=0.456432;ABP=18.9044;AC=6;AF=0.5;AN=12;AO=440;CIGAR=1X;DP=7241;DPB=964;DPRA=0;EPP=4.60929;EPPR=5.70592;GTI=0;LEN=1;MEANALT=3;MQM=31.4364;MQMR=31.9784;NS=1;NUMALT=1;ODDS=1380.43;PAIRED=0.956818;PAIREDR=0.922414;PAO=0;PQA=0;PQR=0;PRO=0;QA=11615;QR=13451;RO=464;RPL=286;RPP=89.0006;RPPR=15.6647;RPR=154;RUN=1;SAF=225;SAP=3.50382;SAR=215;SF=0,1;SRF=216;SRP=7.80251;SRR=248;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0109;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0109;1000g2015aug_all=0.00419329;avsnp147=rs151226355;Kaviar_AF=0.0093854;Kaviar_AC=1451;Kaviar_AN=154602;ExAC_ALL=0.0096;ExAC_AFR=0.0014;ExAC_AMR=0.0050;ExAC_EAS=0;ExAC_FIN=0.0043;ExAC_NFE=0.0136;ExAC_OTH=0.0112;ExAC_SAS=0.0088;CLNALLELEID=53436;CLNDN=Myofibrillar_myopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.5520;dpsi_zscore=-1.739;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0090;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0061;gnomAD_exome_ASJ=0.0171;gnomAD_exome_EAS=5.806e-05;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0126;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0084;gnomAD_genome_ALL=0.0060;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-616.409,0,-730.172:964:464:440:11615:13451 . . 0/1:-484.137,0,-826.49:907:497:369:9776:14669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-960.523,0,-1162.41:1438:707:666:17973:20304 . . . . . . 0/1:-870.989,0,-1570.04:1580:878:631:17413:26088 0/1:-362.847,0,-605.66:769:413:311:8425:11500 . . . . . . . . . . . . . . . . . . . . . . 0/1:-1333.17,0,-1587.5:1583:801:741:21550:24292:801,741 . . . . . . . . . . . . . . . . . . . chr2 220285309 . C T 17698.64 . AB=0.453074;ABP=26.6505;AC=79;AF=0.5;AN=126;AO=560;CIGAR=1X;DP=98665;DPB=1236;DPRA=0;EPP=3.07234;EPPR=5.16112;GTI=0;LEN=1;MEANALT=3;MQM=34.4429;MQMR=34.9065;NS=1;NUMALT=1;ODDS=2039.57;PAIRED=0.9125;PAIREDR=0.892235;PAO=0;PQA=0;PQR=0;PRO=0;QA=16060;QR=19231;RO=631;RPL=332;RPP=44.9507;RPPR=9.3733;RPR=228;RUN=1;SAF=306;SAP=13.4954;SAR=254;SF=0,1;SRF=343;SRP=13.4203;SRR=288;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon4:c.C828T:p.D276D;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.3845;esp6500siv2_ea=0.3555;esp6500siv2_all=0.3845;esp6500siv2_ea=0.3555;1000g2015aug_all=0.33746;avsnp147=rs1058261;Kaviar_AF=0.336574;Kaviar_AC=52035;Kaviar_AN=154602;ExAC_ALL=0.3363;ExAC_AFR=0.4452;ExAC_AMR=0.3020;ExAC_EAS=0.1882;ExAC_FIN=0.2695;ExAC_NFE=0.3603;ExAC_OTH=0.3448;ExAC_SAS=0.2988;CLNALLELEID=53439;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4236;dpsi_zscore=1.744;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3314;gnomAD_exome_AFR=0.4410;gnomAD_exome_AMR=0.3103;gnomAD_exome_ASJ=0.4203;gnomAD_exome_EAS=0.1903;gnomAD_exome_FIN=0.2789;gnomAD_exome_NFE=0.3562;gnomAD_exome_OTH=0.3489;gnomAD_exome_SAS=0.2968;gnomAD_genome_ALL=0.3509;gnomAD_genome_AFR=0.4309;gnomAD_genome_AMR=0.3341;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.1976;gnomAD_genome_FIN=0.2734;gnomAD_genome_NFE=0.3400;gnomAD_genome_OTH=0.3313;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-899.314,0,-1134.34:1236:631:560:16060:19231 1/1:-3661.07,-445.317,0:1818:31:1674:46931:826 0/1:-1050.71,0,-1333.21:1412:718:642:18323:21932 . 0/1:-1066.86,0,-1624.12:1677:880:725:20139:26598 . 0/1:-1023.1,0,-1334.83:1454:741:655:18257:22435 1/1:-3597.2,-403.09,0:1805:49:1641:46784:1372 0/1:-1187.44,0,-1487.39:1595:788:741:20738:24262 0/1:-1264.35,0,-1365.19:1607:756:782:21500:23071 0/1:-955.622,0,-1489.31:1457:786:617:17336:24246 0/1:-1135.46,0,-1308.44:1497:707:712:19410:21509 0/1:-965.797,0,-1307.5:1417:707:641:17393:21718 0/1:-869.442,0,-997.177:1218:584:574:16085:17894 1/1:-2430.03,-271.005,0:1238:35:1125:31940:1027 0/1:-1605.66,0,-2173.53:2238:1153:994:27880:35626 0/1:-944.831,0,-952.148:1195:548:597:16709:16702 . 0/1:-1265.99,0,-1186.16:1492:660:751:21066:20252 0/1:-802.571,0,-976.69:1121:556:522:14372:16779 . 0/1:-1110.11,0,-1713.12:1681:899:726:19991:27769 1/1:-1851.29,-236.036,0:939:18:864:24274:484 . . . 1/1:-3410.64,-395.557,0:1731:43:1552:43942:1155 0/1:-1145.09,0,-1319.74:1467:713:695:19667:21742 0/1:-931.071,0,-1081.09:1271:597:616:16734:18502 . . . . 0/1:-1298.86,0,-1565.89:1752:856:816:23074:26608 1/1:-3111.9,-374.669,0:1539:35:1410:39658:924 0/1:-1361.93,0,-1555.19:1771:851:829:23575:25858 0/1:-1932.79,0,-1839.42:2261:1042:1129:32480:31666 . 0/1:-1151.11,0,-1393.04:1587:787:717:20617:23528 1/1:-2493.4,-307.491,0:1182:11:1087:31203:298 0/1:-1353.24,0,-1798.36:1854:943:828:23884:29180 . 1/1:-3251.22,-398.943,0:1552:25:1445:41169:672 . . . . 0/1:-793.803,0,-812.46:955:440:474:13623:13552 1/1:-2655.29,-331.959,0:1272:14:1175:33425:337 1/1:-3989.51,-489.353,0:1944:29:1790:50842:817 . . 1/1:-3672.07,-451.537,0:1774:27:1641:46680:752 . . 0/1:-875.01,0,-1070.03:1185:591:544:15085:18134 1/1:-3433.08,-414.116,0:1683:33:1544:43860:876 0/1:-676.636,0,-787.219:945:461:445:12566:14097 . . . . . . . 0/1:-1422,0,-1641.34:1803:884:847:24871:27336 0/1:-655.646,0,-727.07:906:430:428:12164:13025 0/1:-1171.92,0,-1393.98:1535:750:714:20100:23133 0/1:-1133,0,-1546.86:1611:822:717:19985:25104 0/1:-1222.55,0,-1522.28:1695:841:772:21520:26089 1/1:-3322.85,-424.396,0:1632:20:1503:42006:441 0/1:-1541.15,0,-2154.5:2115:1101:925:26550:34394 0/1:-1284.71,0,-1788.32:1800:928:789:22736:28770 0/1:-601.057,0,-829.433:1007:517:440:12027:15304 . . . . 0/1:-766.707,0,-1024.15:1060:545:474:13263:16947 0/1:-738.4,0,-975.613:991:507:454:13025:15875 . . 0/1:-1430.84,0,-1960.06:2100:1062:948:26245:32485 . . . 0/1:-832.027,0,-1044.03:1138:580:518:14928:17352 . . 0/1:-973.87,0,-1326.8:1406:716:621:17282:22101 0/1:-1224.63,0,-1920.61:1920:1025:810:22577:31056 . . . . . 0/1:-2063.67,0,-2473.18:2171:1135:1002:31448:36160:1135,1002 0/1:-1826.02,0,-2030.82:1829:926:871:27545:29922:926,871 0/1:-1806.36,0,-2006.81:1824:916:879:27516:29565:916,879 0/1:-1412.66,0,-1414.47:1375:664:685:21268:21174:664,685 . . . 0/1:-2071.13,0,-2142.43:2013:1002:990:31126:32031:1002,990 0/1:-1899.67,0,-1961.62:1857:909:912:28367:29166:909,912 0/1:-2120.45,0,-2150.66:2077:1012:1030:32138:32387:1012,1030 1/1:-5054.12,-510.833,0:1941:26:1888:59228:774:26,1888 . . . . . 1/1:-4619.9,-461.625,0:1822:29:1749:54789:903:29,1749 1/1:-4388.47,-465.303,0:1669:11:1633:51365:339:11,1633 0/1:-1643.06,0,-1615.33:1546:743:777:24489:23973:743,777 . chr2 220285666 . G C 15423.89 . AB=0.496914;ABP=3.09072;AC=79;AF=0.5;AN=126;AO=483;CIGAR=1X;DP=80555;DPB=972;DPRA=0;EPP=15.639;EPPR=46.2776;GTI=0;LEN=1;MEANALT=3;MQM=33.8427;MQMR=36.0913;NS=1;NUMALT=1;ODDS=1820.03;PAIRED=0.890269;PAIREDR=0.89834;PAO=0;PQA=0;PQR=0;PRO=0;QA=14296;QR=15103;RO=482;RPL=327;RPP=134.472;RPPR=148.976;RPR=156;RUN=1;SAF=165;SAP=108.253;SAR=318;SF=0,1;SRF=149;SRP=155.536;SRR=333;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon5:c.G1014C:p.L338L;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.3866;esp6500siv2_ea=0.3551;esp6500siv2_all=0.3866;esp6500siv2_ea=0.3551;1000g2015aug_all=0.33766;avsnp147=rs12920;Kaviar_AF=0.334828;Kaviar_AC=51765;Kaviar_AN=154602;ExAC_ALL=0.3414;ExAC_AFR=0.4560;ExAC_AMR=0.3077;ExAC_EAS=0.1923;ExAC_FIN=0.2791;ExAC_NFE=0.3631;ExAC_OTH=0.3506;ExAC_SAS=0.3053;CLNALLELEID=53409;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6110;dpsi_zscore=-1.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3312;gnomAD_exome_AFR=0.4475;gnomAD_exome_AMR=0.3100;gnomAD_exome_ASJ=0.4201;gnomAD_exome_EAS=0.1893;gnomAD_exome_FIN=0.2777;gnomAD_exome_NFE=0.3551;gnomAD_exome_OTH=0.3483;gnomAD_exome_SAS=0.2965;gnomAD_genome_ALL=0.3524;gnomAD_genome_AFR=0.4369;gnomAD_genome_AMR=0.3321;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.1949;gnomAD_genome_FIN=0.2731;gnomAD_genome_NFE=0.3399;gnomAD_genome_OTH=0.3320;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-822.997,0,-911.415:972:482:483:14296:15103 1/1:-3351.32,-392.763,0:1483:24:1451:43705:626 0/1:-1026.13,0,-1269.09:1269:658:602:17548:20591 . 0/1:-1016.19,0,-1298.77:1315:703:604:17771:21718 . 0/1:-1012.28,0,-1092.47:1155:578:571:17277:18046 1/1:-3135.17,-340.299,0:1449:37:1398:41222:1123 0/1:-978.125,0,-1208.06:1209:637:560:16642:19640 0/1:-1159.21,0,-1378.4:1412:728:676:19974:22722 0/1:-924.684,0,-1247.15:1245:682:552:16649:20496 0/1:-1024.21,0,-1168.54:1185:607:574:17190:18943 0/1:-988.091,0,-1272.82:1232:649:575:17064:20350 0/1:-804.066,0,-1052.2:1101:587:511:14681:17764 1/1:-2217.92,-254.237,0:965:14:944:28643:397 0/1:-1489.53,0,-1879.66:1895:989:891:26163:30863 0/1:-764.607,0,-800.628:908:440:458:13550:13465 . 0/1:-992.725,0,-1162.03:1180:612:561:16725:19113 0/1:-677.31,0,-1069.09:996:553:435:12539:17239 . 0/1:-1149.29,0,-1354.88:1397:720:673:19794:22146 1/1:-1592.06,-206.033,0:751:9:737:21455:254 . . . 1/1:-3242.99,-377.993,0:1403:18:1379:41123:506 0/1:-1018.52,0,-1104.59:1168:585:572:17017:17858 0/1:-873.151,0,-796.013:973:454:505:14855:13656 . . . . 0/1:-1320.22,0,-1340.39:1495:733:753:21963:22613 1/1:-2674.02,-316.378,0:1141:10:1115:33479:272 0/1:-1207.76,0,-1536.91:1515:796:711:20876:24597 0/1:-1646.82,0,-1752.03:1937:956:968:28112:29232 . 0/1:-1141.13,0,-1341.19:1435:734:692:20254:22516 1/1:-1989.87,-253.748,0:906:10:892:25708:226 0/1:-1147.95,0,-1281.91:1334:674:650:19164:20935 . 1/1:-3078.33,-379.737,0:1316:7:1290:38634:140 . . . . 0/1:-776.074,0,-703.463:820:386:429:12950:11637 1/1:-2266.3,-258.747,0:973:13:951:28870:368 1/1:-3494.74,-419.653,0:1525:17:1492:44343:433 . . 1/1:-3805.02,-453.28,0:1650:20:1619:48610:506 . . 0/1:-811.531,0,-1004.29:1006:525:473:14192:16379 1/1:-3293.55,-386.776,0:1424:19:1401:41601:505 0/1:-588.002,0,-656.356:752:382:365:10634:11726 . . . . . . . 0/1:-1177.99,0,-1340.83:1374:699:664:19754:21748 0/1:-642.728,0,-622.621:787:380:403:11597:11267 0/1:-1074.73,0,-1303.01:1363:711:641:18377:21797 0/1:-1078.27,0,-1116.89:1236:587:638:18525:18476 0/1:-1071.67,0,-1215.04:1302:657:638:18847:20160 1/1:-3071.45,-366.867,0:1334:19:1310:39055:443 0/1:-1346.94,0,-1854.07:1774:960:796:23068:29493 0/1:-1102.86,0,-1304.45:1384:716:658:19250:22039 0/1:-573.538,0,-656.136:820:398:415:11335:11579 . . . . 0/1:-825.872,0,-727.132:876:401:469:13654:12294 0/1:-663.269,0,-730.138:790:404:381:11369:12251 . . 0/1:-1282.8,0,-1366.13:1475:733:735:21975:22655 . . . 0/1:-781.13,0,-857.161:910:467:435:13093:14159 . . 0/1:-1160.95,0,-943.297:1158:514:637:19030:16171 0/1:-1443.89,0,-1625.77:1710:871:828:24627:26887 . . . . . 0/1:-1732.58,0,-1879.47:1689:860:822:26060:27650:860,822 0/1:-1512.11,0,-1901.14:1604:858:733:23238:27729:858,733 0/1:-1777.69,0,-1731.14:1649:794:839:26719:25817:794,839 0/1:-1091.37,0,-1197.86:1101:562:527:16403:17839:562,527 . . . 0/1:-1607.04,0,-1681.68:1578:793:770:24202:25155:793,770 0/1:-1552.22,0,-1488.75:1448:699:733:23041:22505:699,733 0/1:-1610.34,0,-1627.37:1529:758:760:24260:24484:758,760 1/1:-4315.27,-454.391,0:1641:13:1613:50645:398:13,1613 . . . . . 1/1:-4157.6,-427.209,0:1581:18:1546:49058:522:18,1546 1/1:-3382.44,-352.425,0:1276:11:1253:39787:336:11,1253 0/1:-1325.57,0,-1416.4:1274:644:625:19928:20902:644,625 . chr2 220286142 . G A 11598.86 . AB=0.450382;ABP=25.4212;AC=79;AF=0.5;AN=126;AO=472;CIGAR=1X;DP=71150;DPB=1048;DPRA=0;EPP=4.85053;EPPR=35.5249;GTI=0;LEN=1;MEANALT=3;MQM=35;MQMR=35.1928;NS=1;NUMALT=1;ODDS=1516.57;PAIRED=0.947034;PAIREDR=0.924386;PAO=0;PQA=0;PQR=0;PRO=0;QA=12005;QR=15387;RO=529;RPL=264;RPP=17.4377;RPPR=27.348;RPR=208;RUN=1;SAF=200;SAP=26.8597;SAR=272;SF=0,1;SRF=225;SRP=28.6287;SRR=304;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon6:c.G1104A:p.A368A;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.3844;esp6500siv2_ea=0.3552;esp6500siv2_all=0.3844;esp6500siv2_ea=0.3552;1000g2015aug_all=0.333666;avsnp147=rs1058284;Kaviar_AF=0.337221;Kaviar_AC=52135;Kaviar_AN=154602;ExAC_ALL=0.3362;ExAC_AFR=0.4421;ExAC_AMR=0.3024;ExAC_EAS=0.1887;ExAC_FIN=0.2696;ExAC_NFE=0.3603;ExAC_OTH=0.3436;ExAC_SAS=0.2989;CLNALLELEID=53412;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1133;dpsi_zscore=-0.488;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3317;gnomAD_exome_AFR=0.4397;gnomAD_exome_AMR=0.3102;gnomAD_exome_ASJ=0.4201;gnomAD_exome_EAS=0.1902;gnomAD_exome_FIN=0.2788;gnomAD_exome_NFE=0.3567;gnomAD_exome_OTH=0.3494;gnomAD_exome_SAS=0.2971;gnomAD_genome_ALL=0.3510;gnomAD_genome_AFR=0.4292;gnomAD_genome_AMR=0.3357;gnomAD_genome_ASJ=0.4133;gnomAD_genome_EAS=0.1973;gnomAD_genome_FIN=0.2735;gnomAD_genome_NFE=0.3410;gnomAD_genome_OTH=0.3327;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-670.562,0,-921.497:1048:529:472:12005:15387 1/1:-2708.44,-369.644,0:1459:21:1323:34115:471 0/1:-786.84,0,-950.232:1118:541:527:13742:16328 . 0/1:-793.171,0,-902.307:1160:556:555:14548:16048 . 0/1:-650.533,0,-841.075:1035:504:476:11987:14406 1/1:-2309.36,-256.86,0:1283:50:1145:30052:1318 0/1:-718.581,0,-1049.37:1143:595:494:13019:17730 0/1:-869.414,0,-1023.01:1262:600:598:15211:17864 0/1:-726.006,0,-753.224:1014:476:490:12863:13714 0/1:-717.946,0,-968.49:1142:553:516:13137:16257 0/1:-665.013,0,-856.071:1038:516:461:11871:15033 0/1:-556.882,0,-584.177:835:368:428:10563:10911 1/1:-1724.06,-215.075,0:925:20:839:22110:522 0/1:-1038,0,-1472.75:1661:821:749:18989:24442 0/1:-536.427,0,-629.837:825:386:396:10239:11335 . 0/1:-747.083,0,-989.346:1122:545:518:13590:16354 0/1:-527.041,0,-626.643:835:403:381:9897:11426 . 0/1:-862.8,0,-1116.07:1330:632:608:15479:18947 1/1:-1116.11,-158.298,0:649:15:577:14758:290 . . . 1/1:-2091.77,-259.829,0:1161:29:1043:26838:804 0/1:-760.587,0,-705.487:968:422:487:12782:12360 0/1:-545.068,0,-552.818:798:363:389:9937:10476 . . . . 0/1:-802.827,0,-915.209:1120:543:523:14094:15897 1/1:-2337.03,-324.575,0:1266:16:1134:28925:303 0/1:-777.403,0,-1246.2:1330:690:551:14319:20844 0/1:-960.283,0,-1037.32:1350:632:644:16805:18190 . 0/1:-782.987,0,-802.923:1062:471:524:13744:14067 1/1:-1280.58,-166.957,0:696:16:625:16400:350 0/1:-857.904,0,-1342.13:1458:752:625:15940:22520 . 1/1:-2399.55,-317.415,0:1248:22:1140:29928:440 . . . . 0/1:-486.036,0,-461.457:630:271:323:8245:7979 1/1:-1725.71,-220.102,0:929:20:845:22315:483 1/1:-2624.18,-345.459,0:1452:25:1293:33262:620 . . 1/1:-2738.64,-373.797,0:1483:20:1338:34624:442 . . 0/1:-666.735,0,-832.151:985:483:455:12012:14054 1/1:-2446.61,-324.97,0:1346:33:1203:31163:649 0/1:-370.453,0,-504.118:601:291:280:7061:8802 . . . . . . . 0/1:-870.818,0,-999.214:1246:583:579:15325:17117 0/1:-415.144,0,-572.184:683:332:309:7781:9789 0/1:-772.092,0,-980.071:1109:547:511:13567:16413 0/1:-678.785,0,-774.603:971:447:466:12034:13273 0/1:-762.187,0,-993.355:1196:571:556:14027:16572 1/1:-1977.43,-266.671,0:1082:16:975:25071:388 0/1:-1205.14,0,-1192.36:1529:688:774:20394:20324 0/1:-864.915,0,-1142.29:1358:675:606:15651:19362 0/1:-385.661,0,-408.66:616:279:294:7480:7919 . . . . 0/1:-471.738,0,-737.962:804:420:341:8688:12264 0/1:-474.605,0,-562.477:671:316:315:8484:9576 . . 0/1:-922.757,0,-1177.18:1403:679:629:16439:19950 . . . 0/1:-557.238,0,-717.391:820:416:369:9920:12322 . . 0/1:-670.567,0,-912.865:1053:518:473:12383:15237 0/1:-1091.93,0,-1524.17:1739:874:781:20098:26108 . . . . . 0/1:-1257.07,0,-1318.56:1326:638:652:19123:19911:638,652 0/1:-1191.57,0,-1270.56:1297:615:635:18461:19264:615,635 0/1:-1456.49,0,-1506.87:1529:742:750:22490:23054:742,750 0/1:-778.169,0,-573.371:736:298:411:11636:9367:298,411 . . . 0/1:-1286.55,0,-1350.82:1388:669:671:19723:20459:669,671 0/1:-1095.43,0,-1316.28:1247:633:585:17081:19831:633,585 0/1:-1159.05,0,-1440.23:1410:704:647:18483:21861:704,647 1/1:-3329.62,-380.697,0:1417:15:1355:39611:359:15,1355 . . . . . 1/1:-3003.17,-299.436,0:1345:33:1253:36559:1046:33,1253 1/1:-2948.24,-334.894,0:1258:11:1191:34703:318:11,1191 0/1:-1066.26,0,-1119.36:1150:557:564:16328:17200:557,564 . chr20 30407387 . G A 6132.34 . AB=0.463048;ABP=13.2809;AC=1;AF=0.5;AN=2;AO=401;CIGAR=1X;DP=866;DPB=866;DPRA=0;EPP=4.96517;EPPR=3.51296;GTI=0;LEN=1;MEANALT=3;MQM=33.7681;MQMR=34.4329;NS=1;NUMALT=1;ODDS=1412.02;PAIRED=0.892768;PAIREDR=0.87963;PAO=0;PQA=0;PQR=0;PRO=0;QA=11239;QR=13163;RO=432;RPL=227;RPP=18.2214;RPPR=10.2686;RPR=174;RUN=1;SAF=234;SAP=27.3189;SAR=167;SF=0;SRF=270;SRP=61.6401;SRR=162;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon2:c.G4A:p.A2T;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0016;1000g2015aug_all=0.00119808;avsnp147=rs117502839;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=55691;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.123;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.974;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-0.72;FATHMM_pred=T;PROVEAN_score=-0.09;PROVEAN_pred=N;VEST3_score=0.291;CADD_raw=4.332;CADD_phred=24.0;DANN_score=0.999;fathmm-MKL_coding_score=0.891;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.960;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.52;phyloP7way_vertebrate=-0.273;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=7.289;GDI_full_10282015=.;dpsi_max_tissue=2.0690;dpsi_zscore=1.989;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=8.763e-05;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-625.396,0,-778.344:866:432:401:11239:13163 . . . . . . . . . . . . . . . . . . . . . . . . chr20 30407934 . G A 6003.98 . AB=0.46281;ABP=11.7321;AC=1;AF=0.5;AN=2;AO=336;CIGAR=1X;DP=726;DPB=726;DPRA=0;EPP=3.65657;EPPR=7.98634;GTI=0;LEN=1;MEANALT=3;MQM=37.8661;MQMR=38.3842;NS=1;NUMALT=1;ODDS=1382.47;PAIRED=0.958333;PAIREDR=0.920981;PAO=0;PQA=0;PQR=0;PRO=0;QA=9976;QR=11658;RO=367;RPL=130;RPP=40.3389;RPPR=38.0911;RPR=206;RUN=1;SAF=211;SAP=50.8085;SAR=125;SF=1;SRF=243;SRP=86.7984;SRR=124;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon3:c.G58A:p.A20T;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.261;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-0.45;FATHMM_pred=T;PROVEAN_score=-0.15;PROVEAN_pred=N;VEST3_score=0.1;CADD_raw=0.768;CADD_phred=9.262;DANN_score=0.918;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.026;MetaSVM_pred=T;MetaLR_score=0.125;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=-1.32;phyloP7way_vertebrate=-0.155;phyloP20way_mammalian=-0.393;phastCons7way_vertebrate=0.095;phastCons20way_mammalian=0.451;SiPhy_29way_logOdds=2.768;GDI_full_10282015=.;dpsi_max_tissue=0.7283;dpsi_zscore=1.334;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.097e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.125e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-616.938,0,-761.909:726:367:336:9976:11658:367,336 . . . . . . . . . . . . . chr20 30408306 . C G 4623.90 . AB=0.535494;ABP=10.1011;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=648;DPB=648;DPRA=0;EPP=32.8039;EPPR=6.95775;GTI=0;LEN=1;MEANALT=3;MQM=29.8415;MQMR=30.5808;NS=1;NUMALT=1;ODDS=925.104;PAIRED=0.89049;PAIREDR=0.831615;PAO=0;PQA=0;PQR=0;PRO=0;QA=9247;QR=8519;RO=291;RPL=135;RPP=40.1131;RPPR=16.8077;RPR=212;RUN=1;SAF=166;SAP=4.41832;SAR=181;SF=0;SRF=124;SRP=16.8077;SRR=167;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon3:c.C430G:p.P144A;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0202;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0202;1000g2015aug_all=0.00838658;avsnp147=rs34396614;Kaviar_AF=0.0137838;Kaviar_AC=2131;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0041;ExAC_AMR=0.0175;ExAC_EAS=0;ExAC_FIN=0.0077;ExAC_NFE=0.0194;ExAC_OTH=0.0150;ExAC_SAS=0.0017;CLNALLELEID=45314;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-1.77;PROVEAN_pred=N;VEST3_score=0.093;CADD_raw=4.119;CADD_phred=23.8;DANN_score=0.992;fathmm-MKL_coding_score=0.051;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.876;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.72;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.312;phastCons20way_mammalian=0.943;SiPhy_29way_logOdds=9.771;GDI_full_10282015=.;dpsi_max_tissue=-0.2317;dpsi_zscore=-0.745;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0140;gnomAD_exome_AFR=0.0036;gnomAD_exome_AMR=0.0187;gnomAD_exome_ASJ=0.0032;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0082;gnomAD_exome_NFE=0.0212;gnomAD_exome_OTH=0.0196;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0125;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0054;gnomAD_genome_NFE=0.0203;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-477.924,0,-413.48:648:291:347:9247:8519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 30409452 . T C 5176.45 . AB=0.507102;ABP=3.31875;AC=28;AF=0.5;AN=50;AO=357;CIGAR=1X;DP=18192;DPB=704;DPRA=0;EPP=8.12573;EPPR=3.59465;GTI=0;LEN=1;MEANALT=3;MQM=31.0168;MQMR=34.3787;NS=1;NUMALT=1;ODDS=987.614;PAIRED=0.840336;PAIREDR=0.76412;PAO=0;PQA=0;PQR=0;PRO=0;QA=9290;QR=8290;RO=301;RPL=219;RPP=42.9179;RPPR=62.751;RPR=138;RUN=1;SAF=119;SAP=89.1454;SAR=238;SF=0,1;SRF=110;SRP=50.3426;SRR=191;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon4:c.T684C:p.I228I;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.1009;esp6500siv2_ea=0.0802;esp6500siv2_all=0.1009;esp6500siv2_ea=0.0802;1000g2015aug_all=0.0720847;avsnp147=rs6058469;Kaviar_AF=0.0680134;Kaviar_AC=10515;Kaviar_AN=154602;ExAC_ALL=0.0678;ExAC_AFR=0.1439;ExAC_AMR=0.0442;ExAC_EAS=0.0005;ExAC_FIN=0.0736;ExAC_NFE=0.0791;ExAC_OTH=0.0843;ExAC_SAS=0.0236;CLNALLELEID=55693;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2077;dpsi_zscore=0.738;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0650;gnomAD_exome_AFR=0.1405;gnomAD_exome_AMR=0.0456;gnomAD_exome_ASJ=0.0819;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0708;gnomAD_exome_NFE=0.0781;gnomAD_exome_OTH=0.0777;gnomAD_exome_SAS=0.0256;gnomAD_genome_ALL=0.0805;gnomAD_genome_AFR=0.1317;gnomAD_genome_AMR=0.0477;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0696;gnomAD_genome_NFE=0.0654;gnomAD_genome_OTH=0.0602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-505.998,0,-448.352:704:301:357:9290:8290 . 1/1:-1205.79,-171.41,0:674:13:637:16454:354 . . . . . 0/1:-416.356,0,-457.27:636:297:300:7854:8245 0/1:-409.994,0,-535.102:713:340:324:8205:9414 . . . . . . 0/1:-459.02,0,-524.819:718:333:339:8671:9144 . . . . . . . 0/1:-460.789,0,-619.59:806:397:352:9183:10817 . . . 0/1:-424.617,0,-387.284:609:268:296:7600:7059 . . . . . 1/1:-1652.93,-229.235,0:858:12:821:21807:301 . . . 0/1:-429.738,0,-763.621:913:481:350:9152:13331 0/1:-371.011,0,-593.341:757:380:314:7758:10381 0/1:-460.967,0,-586.218:782:388:341:8839:10286 . 0/1:-606.606,0,-656.054:939:444:434:11101:12044 . 0/1:-476.804,0,-553.798:809:375:371:9246:9941 1/1:-891.799,-130.025,0:462:4:447:11621:74 0/1:-381.815,0,-455.977:592:287:266:7107:7642 . . 0/1:-329.963,0,-490.143:681:340:296:7299:9159 . . . . 0/1:-419.899,0,-590.072:753:395:311:8414:10533 . . . . . . . 0/1:-620.32,0,-718.066:956:452:440:11473:12650 . . 0/1:-382.626,0,-539.935:653:333:280:7297:9170 . . . 0/1:-623.046,0,-778.463:1021:509:450:11664:13626 . . . . . . 0/1:-325.669,0,-396.097:520:258:238:6170:6971 . . . . . . . . . 0/1:-248.807,0,-277.552:408:184:190:4720:5071 . 0/1:-515.818,0,-792.079:932:477:403:10334:13205 . . . . . . . . . . . . . . . . 0/1:-457.79,0,-700.565:627:351:252:7466:10525:351,252 . . . . . . 0/1:-574.231,0,-712.047:669:361:297:9061:10739:361,297 . chr20 30412101 . C T 6639.86 . AB=0.453202;ABP=14.5951;AC=5;AF=0.5;AN=10;AO=276;CIGAR=1X;DP=5197;DPB=609;DPRA=0;EPP=6.81824;EPPR=76.3609;GTI=0;LEN=1;MEANALT=3;MQM=31.279;MQMR=32.3409;NS=1;NUMALT=1;ODDS=846.18;PAIRED=0.960145;PAIREDR=0.951299;PAO=0;PQA=0;PQR=0;PRO=0;QA=7417;QR=8840;RO=308;RPL=150;RPP=7.54207;RPPR=5.29458;RPR=126;RUN=1;SAF=149;SAP=6.81824;SAR=127;SF=0,1;SRF=148;SRP=4.02553;SRR=160;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon6:c.C918T:p.A306A;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0193;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0193;1000g2015aug_all=0.00599042;avsnp147=rs41293106;Kaviar_AF=0.0114358;Kaviar_AC=1768;Kaviar_AN=154602;ExAC_ALL=0.0114;ExAC_AFR=0.0042;ExAC_AMR=0.0076;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0163;ExAC_OTH=0.0125;ExAC_SAS=0.0085;CLNALLELEID=45316;CLNDN=Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2356;dpsi_zscore=-0.751;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0075;gnomAD_exome_ASJ=0.0024;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0171;gnomAD_exome_OTH=0.0126;gnomAD_exome_SAS=0.0081;gnomAD_genome_ALL=0.0098;gnomAD_genome_AFR=0.0034;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0163;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-376.521,0,-489.212:609:308:276:7417:8840 . . . . . . . . . . 0/1:-557.763,0,-695.344:811:393:392:10344:11752 . . . . . . . . . . . . . . . . . . . . . 0/1:-849.755,0,-1021.79:1263:622:588:15461:17730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1019.57,0,-1286.95:1181:623:543:16342:19229:623,543 0/1:-1143.97,0,-1390.87:1333:682:623:18340:21109:682,623 . . . . . . . . . . . . . . chr20 30412168 . CG CA 6959.79 . AB=0.476758;ABP=6.9469;AC=1;AF=0.5;AN=2;AO=400;CIGAR=1M1X;DP=839;DPB=839.5;DPRA=0;EPP=4.40004;EPPR=25.0527;GTI=0;LEN=1;MEANALT=9;MQM=38.8675;MQMR=39.2558;NS=1;NUMALT=1;ODDS=1602.55;PAIRED=0.9675;PAIREDR=0.959079;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=11562;QR=11969;RO=391;RPL=315;RPP=290.188;RPPR=157.896;RPR=85;RUN=1;SAF=143;SAP=73.5614;SAR=257;SF=1;SRF=155;SRP=39.4477;SRR=236;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.75e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.974e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-741.491,0,-778.719:839:391:400:11562:11969:391,400 . . . . . . . . . . . . . chr20 30412169 . G A 2647.37 . AB=0.421663;ABP=30.5674;AC=1;AF=0.5;AN=2;AO=218;CIGAR=1X;DP=517;DPB=517;DPRA=0;EPP=8.74777;EPPR=20.3272;GTI=0;LEN=1;MEANALT=3;MQM=33.4174;MQMR=34.0289;NS=1;NUMALT=1;ODDS=609.58;PAIRED=0.93578;PAIREDR=0.909747;PAO=0;PQA=0;PQR=0;PRO=0;QA=5564;QR=8352;RO=277;RPL=169;RPP=146.447;RPPR=277.141;RPR=49;RUN=1;SAF=80;SAP=36.5187;SAR=138;SF=0;SRF=80;SRP=110.322;SRR=197;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000399361;avsnp147=rs193922713;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0052;CLNALLELEID=45317;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1341;dpsi_zscore=-0.543;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0;gnomAD_exome_AMR=6.141e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-292.557,0,-490.781:517:277:218:5564:8352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 30414503 . C T 9174.38 . AB=0.477651;ABP=7.96034;AC=5;AF=0.5;AN=10;AO=545;CIGAR=1X;DP=7518;DPB=1141;DPRA=0;EPP=52.1015;EPPR=3.01437;GTI=0;LEN=1;MEANALT=3;MQM=33.0532;MQMR=33.546;NS=1;NUMALT=1;ODDS=1822.39;PAIRED=0.886239;PAIREDR=0.883677;PAO=0;PQA=0;PQR=0;PRO=0;QA=14675;QR=16454;RO=533;RPL=314;RPP=30.4585;RPPR=23.5476;RPR=231;RUN=1;SAF=232;SAP=29.1516;SAR=313;SF=0;SRF=227;SRP=28.4365;SRR=306;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon7:c.C1068T:p.V356V;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0185;1000g2015aug_all=0.00499201;avsnp147=rs17340492;Kaviar_AF=0.0106661;Kaviar_AC=1649;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0035;ExAC_AMR=0.0056;ExAC_EAS=0;ExAC_FIN=0.0206;ExAC_NFE=0.0157;ExAC_OTH=0.0110;ExAC_SAS=0.0005;CLNALLELEID=55682;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0964;dpsi_zscore=-0.438;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0115;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0136;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0228;gnomAD_exome_NFE=0.0163;gnomAD_exome_OTH=0.0129;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0109;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0232;gnomAD_genome_NFE=0.0132;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-809.799,0,-932.994:1141:533:545:14675:16454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-551.384,0,-744.278:905:448:402:10471:13286 . . . . . . . . . . . 0/1:-958.564,0,-1794.6:1847:982:751:19344:30162 . . . . . . . . . . . . . . 0/1:-1307.91,0,-1604.11:1918:921:886:23327:28463 . . 0/1:-1066.18,0,-1572.3:1707:874:754:19896:26942 . . . . . . . . . . . . . . . . . . . . . . chr20 30414528 . G A 8288.94 . AB=0.480186;ABP=5.93597;AC=7;AF=0.5;AN=14;AO=412;CIGAR=1X;DP=7639;DPB=858;DPRA=0;EPP=100.495;EPPR=51.5838;GTI=0;LEN=1;MEANALT=3;MQM=30.3398;MQMR=33.1019;NS=1;NUMALT=1;ODDS=1366.29;PAIRED=0.873786;PAIREDR=0.883495;PAO=0;PQA=0;PQR=0;PRO=0;QA=11953;QR=12309;RO=412;RPL=244;RPP=33.4531;RPPR=7.14242;RPR=168;RUN=1;SAF=178;SAP=19.5388;SAR=234;SF=0,1;SRF=172;SRP=27.3814;SRR=240;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0265;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0265;1000g2015aug_all=0.00958466;avsnp147=rs76530988;Kaviar_AF=0.0202779;Kaviar_AC=3135;Kaviar_AN=154602;ExAC_ALL=0.0206;ExAC_AFR=0.0062;ExAC_AMR=0.0113;ExAC_EAS=0.0001;ExAC_FIN=0.0393;ExAC_NFE=0.0300;ExAC_OTH=0.0199;ExAC_SAS=0.0018;CLNALLELEID=45311;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1748;dpsi_zscore=0.672;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0204;gnomAD_exome_AFR=0.0052;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0375;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0403;gnomAD_exome_NFE=0.0281;gnomAD_exome_OTH=0.0212;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0203;gnomAD_genome_AFR=0.0056;gnomAD_genome_AMR=0.0275;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0399;gnomAD_genome_NFE=0.0257;gnomAD_genome_OTH=0.0173;Whole_Blood=Whole_Blood::0.0271003::0.447299;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-615.062,0,-681.108:858:412:412:11953:12309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-895.943,0,-900.326:1130:541:552:16102:16012 . . . . . . . . . . . . . . . . . 0/1:-481.265,0,-610.124:750:388:329:9516:11335 0/1:-1035.22,0,-1170.52:1440:727:675:19628:21490 . 0/1:-359.616,0,-506.046:609:317:273:7691:9149 . . . . 0/1:-1345.89,0,-1070.09:1550:696:805:23374:20111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1171.88,0,-1259.92:1302:656:607:18568:19184:656,607 . . . . . . . . . . . chr20 30414621 . C T 7821.87 . AB=0.483318;ABP=5.69086;AC=3;AF=0.5;AN=6;AO=536;CIGAR=1X;DP=3414;DPB=1109;DPRA=0;EPP=3.26958;EPPR=23.3161;GTI=0;LEN=1;MEANALT=3;MQM=34.041;MQMR=33.8912;NS=1;NUMALT=1;ODDS=1931.37;PAIRED=0.942164;PAIREDR=0.929389;PAO=0;PQA=0;PQR=0;PRO=0;QA=14982;QR=15232;RO=524;RPL=248;RPP=9.49231;RPPR=6.73993;RPR=288;RUN=1;SAF=260;SAP=4.04742;SAR=276;SF=0;SRF=250;SRP=5.39726;SRR=274;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon8:c.C1104T:p.F368F;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0216;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0216;1000g2015aug_all=0.0081869;avsnp147=rs6089088;Kaviar_AF=0.0202326;Kaviar_AC=3128;Kaviar_AN=154602;ExAC_ALL=0.0203;ExAC_AFR=0.0035;ExAC_AMR=0.0386;ExAC_EAS=0.0003;ExAC_FIN=0.0342;ExAC_NFE=0.0230;ExAC_OTH=0.0255;ExAC_SAS=0.0120;CLNALLELEID=55683;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3534;dpsi_zscore=-0.927;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0209;gnomAD_exome_AFR=0.0034;gnomAD_exome_AMR=0.0343;gnomAD_exome_ASJ=0.0027;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0330;gnomAD_exome_NFE=0.0244;gnomAD_exome_OTH=0.0210;gnomAD_exome_SAS=0.0112;gnomAD_genome_ALL=0.0206;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0312;gnomAD_genome_NFE=0.0287;gnomAD_genome_OTH=0.0275;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-847.589,0,-849.822:1109:524:536:14982:15232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-758.385,0,-957.88:1092:548:505:13997:16241 . . . . . . . . . . . 0/1:-784.443,0,-1078.72:1213:623:541:14590:17886 . . . . . . . . . . . . . . . . . . . . . . . chr20 30419813 . G A 6232.15 . AB=0.416034;ABP=75.5778;AC=1;AF=0.5;AN=2;AO=493;CIGAR=1X;DP=1185;DPB=1185;DPRA=0;EPP=4.28323;EPPR=4.10961;GTI=0;LEN=1;MEANALT=3;MQM=30.6937;MQMR=33.1469;NS=1;NUMALT=1;ODDS=1435.01;PAIRED=0.778905;PAIREDR=0.751563;PAO=0;PQA=0;PQR=0;PRO=0;QA=13365;QR=19522;RO=640;RPL=236;RPP=4.95273;RPPR=3.13245;RPR=257;RUN=1;SAF=265;SAP=9.04021;SAR=228;SF=0;SRF=352;SRP=16.9077;SRR=288;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon12:c.G1584A:p.R528R;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000399361;avsnp147=rs55807353;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0004;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0029;ExAC_SAS=0.0014;CLNALLELEID=45312;CLNDN=Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0300;dpsi_zscore=1.538;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.019e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-636.247,0,-1119.26:1185:640:493:13365:19522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 30419834 . C T 7044.17 . AB=0.420811;ABP=74.2004;AC=1;AF=0.5;AN=2;AO=550;CIGAR=1X;DP=1307;DPB=1307;DPRA=0;EPP=7.57434;EPPR=5.4776;GTI=0;LEN=1;MEANALT=3;MQM=31.7291;MQMR=33.2826;NS=1;NUMALT=1;ODDS=1621.98;PAIRED=0.774545;PAIREDR=0.72029;PAO=0;PQA=0;PQR=0;PRO=0;QA=14894;QR=20948;RO=690;RPL=205;RPP=80.3937;RPPR=70.0931;RPR=345;RUN=1;SAF=317;SAP=30.8683;SAR=233;SF=0;SRF=423;SRP=79.5972;SRR=267;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon12:c.C1605T:p.L535L;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs780842075;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.107e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.981e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.2697;dpsi_zscore=-1.980;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.586e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=3.118e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.11e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.568e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.391e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-726.961,0,-1198.22:1307:690:550:14894:20948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 30419886 . C T 8409.78 . AB=0.487288;ABP=4.66651;AC=1;AF=0.5;AN=2;AO=575;CIGAR=1X;DP=1180;DPB=1180;DPRA=0;EPP=105.825;EPPR=66.7413;GTI=0;LEN=1;MEANALT=3;MQM=32.6261;MQMR=33.8977;NS=1;NUMALT=1;ODDS=1936.42;PAIRED=0.746087;PAIREDR=0.693122;PAO=0;PQA=0;PQR=0;PRO=0;QA=15864;QR=17230;RO=567;RPL=344;RPP=51.2321;RPPR=92.6611;RPR=231;RUN=1;SAF=346;SAP=54.7064;SAR=229;SF=0;SRF=348;SRP=66.7413;SRR=219;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon12:c.C1657T:p.R553C;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs765059037;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=2.288e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.059e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=198525;CLNDN=Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.525;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.495;MutationAssessor_pred=L;FATHMM_score=-0.42;FATHMM_pred=T;PROVEAN_score=-5.31;PROVEAN_pred=D;VEST3_score=0.418;CADD_raw=6.466;CADD_phred=29.9;DANN_score=0.999;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.425;MetaSVM_pred=T;MetaLR_score=0.281;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.88;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.843;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=17.207;GDI_full_10282015=.;dpsi_max_tissue=-3.6410;dpsi_zscore=-2.282;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.407e-05;gnomAD_exome_AFR=7.021e-05;gnomAD_exome_AMR=3.082e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.644e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.464e-05;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-869.502,0,-991.293:1180:567:575:15864:17230 . . . . . . . . . . . . . . . . . . . . . . . . . chr20 30419954 . AGGGT GGGGT,TGGGG,CGGGG,CGGGT,TGGGT 2580.11 . AB=0.431034;ABP=22.1792;AC=28,0,0,0,0;AF=0.5;AN=86;AO=200;CIGAR=1X;DP=25420;DPB=464;DPRA=0;EPP=83.3113;EPPR=35.6495;GTI=0;LEN=1;MEANALT=3;MQM=31.98;MQMR=34.4021;NS=1;NUMALT=1;ODDS=529.547;PAIRED=0.66;PAIREDR=0.654639;PAO=0;PQA=0;PQR=0;PRO=0;QA=4736;QR=5233;RO=194;RPL=143;RPP=83.3113;RPPR=210.039;RPR=57;RUN=1;SAF=128;SAP=37.059;SAR=72;SF=0,1;SRF=143;SRP=97.7492;SRR=51;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1,1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0973;esp6500siv2_ea=0.0755;esp6500siv2_all=0.0973;esp6500siv2_ea=0.0755;1000g2015aug_all=0.0722843;avsnp147=rs6060980;Kaviar_AF=0.0641389;Kaviar_AC=9916;Kaviar_AN=154602;ExAC_ALL=0.0794;ExAC_AFR=0.1671;ExAC_AMR=0.0549;ExAC_EAS=0.0005;ExAC_FIN=0.1004;ExAC_NFE=0.0912;ExAC_OTH=0.0971;ExAC_SAS=0.0275;CLNALLELEID=45313;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5252;dpsi_zscore=1.157;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0631;gnomAD_exome_AFR=0.1425;gnomAD_exome_AMR=0.0446;gnomAD_exome_ASJ=0.0812;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0708;gnomAD_exome_NFE=0.0747;gnomAD_exome_OTH=0.0754;gnomAD_exome_SAS=0.0263;gnomAD_genome_ALL=0.0805;gnomAD_genome_AFR=0.1345;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0703;gnomAD_genome_NFE=0.0637;gnomAD_genome_OTH=0.0603;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1824;dpsi_zscore=-0.651;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1864;dpsi_zscore=0.696;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:.,.,-293.556,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:464:194:200,.,.,.,.:4736,.,.,.,.:5233 . 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:416:10:393,.,.,.,.:9272,.,.,.,.:272 . . . . . 0/1:.,.,-331.947,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:455:216:192,.,.,.,.:4585,.,.,.,.:5967 0/1:.,.,-268.453,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:503:183:262,.,.,.,.:5778,.,.,.,.:5066 . . . . . . 0/1:.,.,-324.886,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:480:199:214,.,.,.,.:4862,.,.,.,.:5843 . . . . . . . 0/1:.,.,-368.428,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:561:225:268,.,.,.,.:6558,.,.,.,.:6572 . . . 0/1:.,.,-326.253,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:454:198:200,.,.,.,.:4463,.,.,.,.:5663 . . . . . 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:559:8:525,.,.,.,.:12713,.,.,.,.:200 . . . 0/1:.,.,-375.325,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:612:254:282,.,.,.,.:6610,.,.,.,.:7016 0/1:.,.,-368.552,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:568:238:254,.,.,.,.:5996,.,.,.,.:6657 0/1:.,.,-349.215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:535:222:248,.,.,.,.:5744,.,.,.,.:6354 . 0/1:.,.,-505.196,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:637:304:267,.,.,.,.:6485,.,.,.,.:8691 . 0/1:.,.,-350.871,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:523:230:229,.,.,.,.:5151,.,.,.,.:6411 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:232:2:218,.,.,.,.:5136,.,.,.,.:53 0/1:.,.,-345.732,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:477:216:195,.,.,.,.:4470,.,.,.,.:6125 . . 0/1:.,.,-370.758,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:473:233:191,.,.,.,.:4454,.,.,.,.:6352 . . . . 0/1:.,.,-536.121,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:681:320:285,.,.,.,.:6824,.,.,.,.:9021 . . . . . . . 0/1:.,.,-457.224,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:630:277:269,.,.,.,.:6329,.,.,.,.:7861 . . 0/1:.,.,-317.803,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:499:210:228,.,.,.,.:5327,.,.,.,.:5850 . . . 0/1:.,.,-540.788,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:706:325:291,.,.,.,.:6796,.,.,.,.:9019 . . . . . . 0/1:.,.,-250.24,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:365:160:153,.,.,.,.:3723,.,.,.,.:4330 . . . . . . . . . 0/1:.,.,-222.413,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:338:150:141,.,.,.,.:3570,.,.,.,.:4223 . 0/1:.,.,-487.081,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:704:326:293,.,.,.,.:6920,.,.,.,.:9089 . . . . . 0/0:.,.,-1249.94,.,.,.,.,.,.,.,.,-1165.34,.,.,-1187.13,.,-1168.33,.,.,-1119.36,-1191.32:773:553:44,.,.,90,86:867,.,.,1770,1662:16110:553,90,44,86 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1207.42,.,.,.,.,-1171.62,-1261.57:745:555:.,.,.,94,60:.,.,.,1814,1151:16330:555,94,60 0/0:0,.,.,.,.,.,-64.9804,.,.,-1277.41,.,.,.,.,.,.,.,.,.,.,.:752:476:.,.,72,.,.:.,.,1462,.,.:14517:476,72 0/0:0,.,.,-52.1071,.,-677.728,-25.3073,.,-625.595,-643.409,.,.,.,.,.,.,.,.,.,.,.:438:244:.,31,56,.,.:.,625,1133,.,.:7456:244,56,31 0/0:0,.,.,.,.,.,-55.5877,.,.,-961.901,.,.,.,.,.,.,.,.,.,.,.:608:363:.,.,58,.,.:.,.,1250,.,.:10819:363,58 0/0:0,.,.,.,.,.,-36.0449,.,.,-1191.23,.,.,.,.,.,.,.,.,.,.,.:810:492:.,.,89,.,.:.,.,1878,.,.:14960:492,89 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-990.705,.,.,.,.,-947.81,-1035.42:681:485:.,.,.,97,67:.,.,.,1938,1299:13998:485,97,67 0/0:0,.,.,-98.9571,.,-1111.82,-60.8164,.,-1043.06,-1065.86,.,.,.,.,.,.,.,.,.,.,.:682:406:.,38,65,.,.:.,805,1390,.,.:12210:406,65,38 0/0:.,.,-1107.53,.,.,.,.,.,.,.,.,-1048.08,.,.,-1067.13,.,-1033.34,.,.,-1001.36,-1046.36:675:494:35,.,.,63,83:686,.,.,1247,1558:14330:494,63,35,83 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1200.33,.,.,.,.,-1149.78,-1222.05:775:582:.,.,.,88,75:.,.,.,1694,1396:16382:582,88,75 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1214.67,.,.,.,.,-1174.56,-1265.95:754:562:.,.,.,97,60:.,.,.,1844,1151:16344:562,97,60 0/1:.,.,-404.416,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:528:229:222,.,.,.,.:5968,.,.,.,.:6676:229,222 0/0:0,.,.,-89.2453,.,-1036.57,-69.2874,.,-984.967,-1013,.,.,.,.,.,.,.,.,.,.,.:602:377:.,33,49,.,.:.,665,1056,.,.:11388:377,49,33 0/0:.,.,-1084.09,.,.,.,.,.,.,.,.,-1009.46,.,.,-1035.97,.,-1028.15,.,.,-990.87,-1058.58:656:480:39,.,.,75,62:756,.,.,1442,1136:13852:480,75,39,62 0/0:.,.,-1234.18,.,.,.,.,.,.,.,.,-1147.09,.,.,-1167.08,.,-1179.1,.,.,-1126.45,-1208.42:739:545:43,.,.,91,60:855,.,.,1754,1139:15798:545,91,43,60 0/0:.,.,-1194.91,.,.,.,.,.,.,.,.,-1125.73,.,.,-1150.6,.,-1133.18,.,.,-1095.8,-1157.46:694:520:42,.,.,65,67:844,.,.,1282,1249:15216:520,65,42,67 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1166.83,.,.,.,.,-1113.67,-1199.63:735:540:.,.,.,90,71:.,.,.,1777,1346:15910:540,90,71 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-919.029,.,.,.,.,-871.484,-918.462:593:430:.,.,.,70,65:.,.,.,1332,1187:12379:430,70,65 0/1:.,.,-365.355,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:534:209:261,.,.,.,.:7080,.,.,.,.:6095:209,261 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1214.83,.,.,.,.,-1166.58,-1256.36:774:576:.,.,.,93,68:.,.,.,1823,1287:16644:576,93,68 chr20 31996308 . G A 7434.00 . AB=0.426918;ABP=67.1237;AC=1;AF=0.5;AN=2;AO=590;CIGAR=1X;DP=1382;DPB=1382;DPRA=0;EPP=20.0288;EPPR=4.06252;GTI=0;LEN=1;MEANALT=3;MQM=33.0373;MQMR=34.2564;NS=1;NUMALT=1;ODDS=1711.74;PAIRED=0.884746;PAIREDR=0.926174;PAO=0;PQA=0;PQR=0;PRO=0;QA=15530;QR=23415;RO=745;RPL=150;RPP=312.537;RPPR=267.088;RPR=440;RUN=1;SAF=395;SAP=150.229;SAR=195;SF=0;SRF=494;SRP=175.122;SRR=251;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=SNTA1;GeneDetail.refGene=NM_003098:c.*5C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs779917751;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.367e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.127e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.958e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR 0/1:-803.698,0,-1403.54:1382:745:590:15530:23415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 31996708 . A G 7742.34 . AB=0.493467;ABP=3.37912;AC=1;AF=0.5;AN=2;AO=491;CIGAR=1X;DP=995;DPB=995;DPRA=0;EPP=19.4666;EPPR=3.91201;GTI=0;LEN=1;MEANALT=3;MQM=32.0876;MQMR=33.6631;NS=1;NUMALT=1;ODDS=1640.83;PAIRED=0.88391;PAIREDR=0.849576;PAO=0;PQA=0;PQR=0;PRO=0;QA=14452;QR=13452;RO=472;RPL=325;RPP=114.817;RPPR=88.1026;RPR=166;RUN=1;SAF=181;SAP=76.606;SAR=310;SF=0;SRF=153;SRP=129.784;SRR=319;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs369876616;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=9.808e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.575e-05;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0034;dpsi_zscore=0.005;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.92e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-802.675,0,-742.206:995:472:491:14452:13452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 32000158 . G A 6294.26 . AB=0.453271;ABP=23.3044;AC=1;AF=0.5;AN=2;AO=485;CIGAR=1X;DP=1070;DPB=1070;DPRA=0;EPP=40.0865;EPPR=4.94227;GTI=0;LEN=1;MEANALT=3;MQM=30.701;MQMR=31.8015;NS=1;NUMALT=1;ODDS=1449.31;PAIRED=0.859794;PAIREDR=0.860294;PAO=0;PQA=0;PQR=0;PRO=0;QA=13267;QR=16329;RO=544;RPL=141;RPP=187.514;RPPR=182.412;RPR=344;RUN=1;SAF=285;SAP=35.3585;SAR=200;SF=0;SRF=315;SRP=32.5327;SRR=229;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon5:c.C984T:p.P328P;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0013;1000g2015aug_all=.;avsnp147=rs138863915;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0025;ExAC_NFE=0.0017;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=142925;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.4215;dpsi_zscore=-2.241;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=6.838e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=6.642e-05;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-664.044,0,-887.529:1070:544:485:13267:16329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 32000462 . C T 10909.35 . AB=0.46888;ABP=13.1468;AC=6;AF=0.5;AN=12;AO=565;CIGAR=1X;DP=8613;DPB=1205;DPRA=0;EPP=5.81208;EPPR=3.71965;GTI=0;LEN=1;MEANALT=3;MQM=34.3929;MQMR=35.3967;NS=1;NUMALT=1;ODDS=1970.5;PAIRED=0.869027;PAIREDR=0.895;PAO=0;PQA=0;PQR=0;PRO=0;QA=15517;QR=18602;RO=600;RPL=333;RPP=42.2159;RPPR=82.2835;RPR=232;RUN=1;SAF=246;SAP=23.4913;SAR=319;SF=0,1;SRF=283;SRP=7.194;SRR=317;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon4:c.G828A:p.K276K;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0195;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0195;1000g2015aug_all=0.0071885;avsnp147=rs35938843;Kaviar_AF=0.0109184;Kaviar_AC=1688;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0026;ExAC_AMR=0.0031;ExAC_EAS=0.0003;ExAC_FIN=0.0034;ExAC_NFE=0.0139;ExAC_OTH=0.0067;ExAC_SAS=0.0164;CLNALLELEID=222853;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0302;dpsi_zscore=0.198;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0046;gnomAD_exome_ASJ=0.0054;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0153;gnomAD_exome_OTH=0.0099;gnomAD_exome_SAS=0.0166;gnomAD_genome_ALL=0.0106;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0178;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:-870.322,0,-1110.69:1205:600:565:15517:18602 . . . . . . . 0/1:-1005.38,0,-1372.55:1430:731:648:17891:22477 . 0/1:-790.24,0,-1013.13:1107:541:522:13826:16539 . . . . . . . 0/1:-976.324,0,-1136.52:1306:620:640:17416:19418 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-996.935,0,-1333.68:1460:736:658:17696:22674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1972.81,0,-2277.78:2105:1069:1002:30320:33808:1069,1002 . . . . . chr20 32031310 . C T 26.00 . AB=0.666667;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=3.0103;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1.67962;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=68;QR=36;RO=1;RPL=0;RPP=7.35324;RPPR=5.18177;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.G117A:p.V39V;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=378229;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.39e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.721e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.42517,0,-2.59961:3:1:2:68:36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 32031359 . GCCCCCG GCCCCG 25.97 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1M1D5M;DP=2;DPB=1.71429;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=23;MQMR=0;NS=1;NUMALT=1;ODDS=5.9775;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=46;QR=0;RO=0;RPL=1;RPP=3.0103;RPPR=0;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SNTA1:NM_003098:exon1:c.67delG:p.A23fs;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.468e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 1/1:-3.80011,-0.60206,0:2:0:2:46:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 32031368 . C A 34.53 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=50;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.G59T:p.G20V;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.054;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_pred=T;PROVEAN_score=-0.85;PROVEAN_pred=N;VEST3_score=0.101;CADD_raw=3.577;CADD_phred=23.2;DANN_score=0.981;fathmm-MKL_coding_score=0.532;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.051;MetaSVM_pred=T;MetaLR_score=0.057;MetaLR_pred=T;integrated_fitCons_score=0.652;integrated_confidence_value=0;GERP++_RS=3.03;phyloP7way_vertebrate=0.853;phyloP20way_mammalian=0.719;phastCons7way_vertebrate=0.572;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=6.728;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.65694,-0.60206,0:2:0:2:50:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 32031392 . A C 21.30 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=23;MQMR=0;NS=1;NUMALT=1;ODDS=4.89558;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=41;QR=0;RO=0;RPL=1;RPP=3.0103;RPPR=0;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.T35G:p.L12R;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.86;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.625;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-2.74;PROVEAN_pred=D;VEST3_score=0.552;CADD_raw=5.761;CADD_phred=27.0;DANN_score=0.996;fathmm-MKL_coding_score=0.584;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.678;MetaSVM_pred=T;MetaLR_score=0.229;MetaLR_pred=T;integrated_fitCons_score=0.564;integrated_confidence_value=0;GERP++_RS=3.6;phyloP7way_vertebrate=1.039;phyloP20way_mammalian=0.913;phastCons7way_vertebrate=0.975;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=12.037;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3.33024,-0.60206,0:2:0:2:41:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 32031401 . C A 30.69 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=23;MQMR=0;NS=1;NUMALT=1;ODDS=7.06548;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=64;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.G26T:p.R9L;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.033;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.630;MutationTaster_pred=N;MutationAssessor_score=1.35;MutationAssessor_pred=L;FATHMM_score=0.77;FATHMM_pred=T;PROVEAN_score=-3.14;PROVEAN_pred=D;VEST3_score=0.217;CADD_raw=4.543;CADD_phred=24.3;DANN_score=0.986;fathmm-MKL_coding_score=0.537;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.930;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_pred=T;integrated_fitCons_score=0.564;integrated_confidence_value=0;GERP++_RS=1.33;phyloP7way_vertebrate=0.020;phyloP20way_mammalian=0.719;phastCons7way_vertebrate=0.949;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=8.193;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.27262,-0.60206,0:2:0:2:64:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42743452 . ACA ACG,CCA 449.24 . AB=0;ABP=0;AC=1,0;AF=0;AN=6;AO=7;CIGAR=1X;DP=401;DPB=138;DPRA=0;EPP=10.7656;EPPR=12.7819;GTI=0;LEN=1;MEANALT=2;MQM=18.2857;MQMR=38.4609;NS=1;NUMALT=1;ODDS=155.782;PAIRED=1;PAIREDR=0.960938;PAO=0;PQA=0;PQR=0;PRO=0;QA=129;QR=3417;RO=128;RPL=4;RPP=3.32051;RPPR=64.083;RPR=3;RUN=1;SAF=5;SAP=5.80219;SAR=2;SF=1;SRF=84;SRP=30.1537;SRR=44;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=JPH2:NM_020433:exon5:c.2073delT:p.F691fs\x3bJPH2:NM_020433:exon5:c.2073delT:p.F691fs;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon5:c.T2075G:p.V692G;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.975;MutationAssessor_pred=M;FATHMM_score=0.63;FATHMM_pred=T;PROVEAN_score=-3.47;PROVEAN_pred=D;VEST3_score=0.935;CADD_raw=6.037;CADD_phred=28.0;DANN_score=0.997;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.571;MetaSVM_pred=T;MetaLR_score=0.255;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.71;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=11.702;GDI_full_10282015=.;dpsi_max_tissue=1.0527;dpsi_zscore=1.551;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-284.375:138:128:.,7:.,129:3417:128,7 0/1:-150.945,0,-104.03,.,.,.:152:60:81,.:2343,.:1812:60,81 . . . . . . . 0/0:.,.,.,.,.,-223.47:111:101:.,6:.,132:2791:101,6 . . . . . . chr20 42743453 . CA CG 1760.98 . AB=0.59375;ABP=15.2248;AC=4;AF=0.5;AN=6;AO=95;CIGAR=1M1X;DP=412;DPB=160;DPRA=0;EPP=3.21602;EPPR=3.90025;GTI=0;LEN=1;MEANALT=4;MQM=37.1053;MQMR=38.1639;NS=1;NUMALT=1;ODDS=215.899;PAIRED=0.926316;PAIREDR=0.918033;PAO=0;PQA=0;PQR=0;PRO=0;QA=2726;QR=1880;RO=61;RPL=18;RPP=82.5776;RPPR=57.1547;RPR=77;RUN=1;SAF=64;SAP=27.9022;SAR=31;SF=1;SRF=42;SRP=21.8416;SRR=19;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=JPH2:NM_020433:exon5:c.2073delT:p.F691fs\x3bJPH2:NM_020433:exon5:c.2073delT:p.F691fs;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-178.877,0,-109.283:160:61:95:2726:1880:61,95 . . . . . . 1/1:-272.779,-24.8207,0:123:6:112:3334:160:6,112 . . 0/1:-119.721,0,-107.779:129:58:63:1859:1687:58,63 . . . . . . . chr20 42743454 . A G 1622.46 . AB=0;ABP=0;AC=65;AF=1;AN=120;AO=196;CIGAR=1X;DP=15415;DPB=202;DPRA=0;EPP=24.4591;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=30.1582;MQMR=3;NS=1;NUMALT=1;ODDS=273.943;PAIRED=0.923469;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4881;QR=14;RO=1;RPL=49;RPP=109.412;RPPR=5.18177;RPR=147;RUN=1;SAF=125;SAP=35.3165;SAR=71;SF=0,1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon5:c.T2073C:p.F691F;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.3544;esp6500siv2_ea=0.3065;esp6500siv2_all=0.3544;esp6500siv2_ea=0.3065;1000g2015aug_all=0.257388;avsnp147=rs6093935;Kaviar_AF=0.247313;Kaviar_AC=38235;Kaviar_AN=154602;ExAC_ALL=0.3120;ExAC_AFR=0.4795;ExAC_AMR=0.2489;ExAC_EAS=0.1095;ExAC_FIN=0.3875;ExAC_NFE=0.3485;ExAC_OTH=0.2893;ExAC_SAS=0.1401;CLNALLELEID=141314;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8819;dpsi_zscore=1.930;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2472;gnomAD_exome_AFR=0.4470;gnomAD_exome_AMR=0.1486;gnomAD_exome_ASJ=0.3223;gnomAD_exome_EAS=0.0872;gnomAD_exome_FIN=0.2801;gnomAD_exome_NFE=0.2967;gnomAD_exome_OTH=0.2716;gnomAD_exome_SAS=0.1199;gnomAD_genome_ALL=0.3289;gnomAD_genome_AFR=0.4602;gnomAD_genome_AMR=0.1579;gnomAD_genome_ASJ=0.3477;gnomAD_genome_EAS=0.0858;gnomAD_genome_FIN=0.2740;gnomAD_genome_NFE=0.3031;gnomAD_genome_OTH=0.2955;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-372.135,-59.0603,0:202:1:196:4881:14 0/1:-200.255,0,-185.952:284:132:143:3626:3594 . . 0/1:-186.99,0,-215.052:319:150:150:3723:4146 . . 0/1:-143.349,0,-162.265:235:111:111:2810:2937 1/1:-553.569,-73.4863,0:288:7:277:7277:147 0/1:-168.875,0,-172.772:272:118:133:3233:3164 0/1:-124.633,0,-121.632:178:80:87:2307:2194 . . 0/1:-135.23,0,-82.9857:181:69:105:2507:1931 0/1:-406.793,0,-399.171:586:264:289:7380:7118 0/1:-138.036,0,-206.237:253:130:105:2686:3601 . . 0/1:-175.112,0,-288.576:328:171:141:3498:4976 0/1:-92.2559,0,-93.2054:153:74:72:1855:1920 0/1:-188.36,0,-267.019:324:162:145:3625:4574 0/1:-227.265,0,-194.964:317:139:160:4040:3719 0/1:-99.696,0,-152.15:215:109:94:2299:2876 0/1:-205.023,0,-171.423:274:119:141:3620:3129 . 0/1:-98.7858,0,-159.826:206:102:89:2059:2831 . 0/1:-142.931,0,-155.557:210:100:96:2573:2786 . . . . . 0/1:-283.382,0,-264.94:410:181:211:5425:4900 0/1:-105.929,0,-194.806:222:125:86:2266:3424 0/1:-166.156,0,-223.49:300:146:137:3402:3986 . 0/1:-219.452,0,-283.701:366:181:165:4327:4923 0/1:-167.039,0,-246.195:304:150:142:3412:4241 . 0/1:-200.786,0,-180.415:283:124:146:3642:3491 0/1:-206.09,0,-294.188:380:191:168:4284:5283 0/1:-161.203,0,-204.476:287:133:132:3235:3796 0/1:-156.791,0,-250.339:313:164:127:3196:4313 0/1:-119.11,0,-102.249:186:83:93:2275:2218 . . 0/1:-235.846,0,-276.359:375:177:174:4390:4753 . 0/1:-206.33,0,-260.526:329:162:153:3960:4488 0/1:-208.293,0,-232.843:314:151:139:3653:4011 . 0/1:-142.772,0,-169.672:226:109:108:2753:2985 0/1:-201.275,0,-141.187:259:104:145:3596:2796 . 1/1:-310.304,-49.3689,0:172:0:164:4012:0 0/1:-217.999,0,-206.626:315:137:156:3989:3709 0/1:-142.428,0,-126.572:210:92:112:2740:2471 0/1:-225.173,0,-320.788:399:207:161:4404:5555 0/1:-222.483,0,-191.739:295:133:151:3961:3540 . . . . 0/1:-174.591,0,-147.366:246:103:130:3164:2851 0/1:-141.399,0,-165.732:263:120:121:2902:3124 0/1:-178.977,0,-178.723:284:123:144:3394:3391 . . 0/1:-217.784,0,-209.179:320:141:161:3922:3899 0/1:-98.7926,0,-103.56:182:82:78:1947:2245 0/1:-152.607,0,-165.268:238:106:118:2933:2964 . . . . 1/1:-256.133,-34.688,0:141:5:135:3495:132 0/1:-226.225,0,-179.234:322:140:162:4178:3706 . . . . . 1/1:-343.673,-51.8296,0:188:3:181:4629:91 . 0/1:-114.82,0,-103.751:164:75:78:1998:1902 0/1:-128.121,0,-201.231:250:125:111:2774:3426 0/1:-184.069,0,-263.863:333:169:143:3600:4692 0/1:-160.213,0,-192.654:257:124:119:3061:3395 0/1:-227.023,0,-295.514:368:190:161:4150:5028 . . . 0/1:-132.49,0,-181.832:178:100:75:2238:2904:100,75 0/1:-133.004,0,-187.612:164:85:76:2198:2727:85,76 . 0/1:-92.234,0,-85.0214:88:42:46:1384:1277:42,46 0/1:-88.4368,0,-152.301:138:81:54:1567:2274:81,54 . . 0/1:-91.8799,0,-147.33:125:72:49:1522:2226:72,49 . . . 0/1:-96.0112,0,-87.8873:106:51:51:1538:1467:51,51 . . . 0/1:-137.467,0,-206.082:175:98:75:2193:2955:98,75 . . 0/1:-102.358,0,-130.632:115:61:52:1584:1928:61,52 . chr20 42744448 . C G 1121.30 . AB=0.487179;ABP=3.34437;AC=1;AF=0.5;AN=2;AO=114;CIGAR=1X;DP=234;DPB=234;DPRA=0;EPP=25.0298;EPPR=41.9239;GTI=0;LEN=1;MEANALT=3;MQM=25.4211;MQMR=24.5487;NS=1;NUMALT=1;ODDS=258.189;PAIRED=0.815789;PAIREDR=0.840708;PAO=0;PQA=0;PQR=0;PRO=0;QA=3289;QR=3556;RO=113;RPL=90;RPP=85.9834;RPPR=89.2735;RPR=24;RUN=1;SAF=26;SAP=76.2308;SAR=88;SF=0;SRF=33;SRP=45.4597;SRR=80;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.G1867C:p.E623Q;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750828996;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=7.252e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.514;SIFT_pred=T;Polyphen2_HDIV_score=0.596;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.26;Polyphen2_HVAR_pred=B;LRT_score=0.871;LRT_pred=U;MutationTaster_score=0.863;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=0.11;FATHMM_pred=T;PROVEAN_score=-0.2;PROVEAN_pred=N;VEST3_score=0.072;CADD_raw=0.897;CADD_phred=10.06;DANN_score=0.913;fathmm-MKL_coding_score=0.633;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.975;MetaSVM_pred=T;MetaLR_score=0.143;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=2.35;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.739;phastCons7way_vertebrate=0.841;phastCons20way_mammalian=0.982;SiPhy_29way_logOdds=9.085;GDI_full_10282015=.;dpsi_max_tissue=-0.2307;dpsi_zscore=-0.743;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.443e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.646e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.677e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-137.413,0,-137.815:234:113:114:3289:3556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42744463 . T C 1019.71 . AB=0.460064;ABP=7.34631;AC=1;AF=0.5;AN=2;AO=144;CIGAR=1X;DP=313;DPB=313;DPRA=0;EPP=60.9765;EPPR=100.152;GTI=0;LEN=1;MEANALT=3;MQM=19.0694;MQMR=26.5882;NS=1;NUMALT=1;ODDS=234.796;PAIRED=0.888889;PAIREDR=0.933824;PAO=0;PQA=0;PQR=0;PRO=0;QA=4261;QR=3831;RO=136;RPL=95;RPP=34.9189;RPPR=53.0819;RPR=49;RUN=1;SAF=50;SAP=32.2045;SAR=94;SF=0;SRF=53;SRP=17.3803;SRR=83;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.A1852G:p.T618A;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=.;avsnp147=rs376612687;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=426337;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.203;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.353;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-0.47;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-2.234;CADD_phred=0.001;DANN_score=0.561;fathmm-MKL_coding_score=0.006;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.985;MetaSVM_pred=T;MetaLR_score=0.040;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=-6.4;phyloP7way_vertebrate=-1.006;phyloP20way_mammalian=-0.209;phastCons7way_vertebrate=0.072;phastCons20way_mammalian=0.088;SiPhy_29way_logOdds=0.236;GDI_full_10282015=.;dpsi_max_tissue=-0.2329;dpsi_zscore=-0.747;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.006e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=6.715e-05;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-120.992,0,-160.323:313:136:144:4261:3831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42744514 . T G 61.87 . AB=0.394495;ABP=13.5489;AC=1;AF=0.5;AN=2;AO=43;CIGAR=1X;DP=109;DPB=109;DPRA=0;EPP=72.1439;EPPR=3.32051;GTI=0;LEN=1;MEANALT=3;MQM=22.4884;MQMR=23.6984;NS=1;NUMALT=1;ODDS=14.2462;PAIRED=0.860465;PAIREDR=0.904762;PAO=0;PQA=0;PQR=0;PRO=0;QA=721;QR=1488;RO=63;RPL=19;RPP=4.27278;RPPR=10.7656;RPR=24;RUN=1;SAF=16;SAP=9.12072;SAR=27;SF=0;SRF=36;SRP=5.80219;SRR=27;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.A1801C:p.T601P;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.266;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.028;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.15;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_pred=N;VEST3_score=0.07;CADD_raw=-0.606;CADD_phred=0.121;DANN_score=0.540;fathmm-MKL_coding_score=0.008;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.081;MetaSVM_pred=T;MetaLR_score=0.105;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=-4.18;phyloP7way_vertebrate=-0.859;phyloP20way_mammalian=-0.840;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.011;SiPhy_29way_logOdds=0.882;GDI_full_10282015=.;dpsi_max_tissue=-0.1152;dpsi_zscore=-0.494;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-21.5299,0,-64.2763:109:63:43:721:1488 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42744586 . CG CC 3067.71 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=130;CIGAR=1M1X;DP=134;DPB=134.5;DPRA=0;EPP=27.1303;EPPR=9.52472;GTI=0;LEN=1;MEANALT=2;MQM=34.3538;MQMR=34.6667;NS=1;NUMALT=1;ODDS=164.246;PAIRED=0.792308;PAIREDR=1;PAO=0.5;PQA=13.5;PQR=13.5;PRO=0.5;QA=4156;QR=106;RO=3;RPL=60;RPP=4.68066;RPPR=9.52472;RPR=70;RUN=1;SAF=44;SAP=32.4755;SAR=86;SF=1;SRF=0;SRP=9.52472;SRR=3;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=JPH2:NM_020433:exon4:c.1728delC:p.P576fs;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-313.1,-32.1684,0:134:3:130:4156:106:3,130 . . . . . . . . . . chr20 42744587 . G C 1147.29 . AB=0.40724;ABP=19.5272;AC=51;AF=0.5;AN=100;AO=90;CIGAR=1X;DP=11021;DPB=221;DPRA=0;EPP=7.73928;EPPR=5.81167;GTI=0;LEN=1;MEANALT=1;MQM=24.2;MQMR=25.2595;NS=1;NUMALT=1;ODDS=200.515;PAIRED=0.788889;PAIREDR=0.824427;PAO=0;PQA=0;PQR=0;PRO=0;QA=2704;QR=4167;RO=131;RPL=36;RPP=10.8276;RPPR=13.3704;RPR=54;RUN=1;SAF=38;SAP=7.73928;SAR=52;SF=0,1;SRF=58;SRP=6.73993;SRR=73;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.C1728G:p.P576P;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.1883;esp6500siv2_ea=0.1887;esp6500siv2_all=0.1883;esp6500siv2_ea=0.1887;1000g2015aug_all=0.152955;avsnp147=rs74352869;Kaviar_AF=0.139054;Kaviar_AC=21498;Kaviar_AN=154602;ExAC_ALL=0.2132;ExAC_AFR=0.2989;ExAC_AMR=0.1504;ExAC_EAS=0.0773;ExAC_FIN=0.2840;ExAC_NFE=0.2759;ExAC_OTH=0.2117;ExAC_SAS=0.0946;CLNALLELEID=141312;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1959;dpsi_zscore=0.714;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1698;gnomAD_exome_AFR=0.2514;gnomAD_exome_AMR=0.1070;gnomAD_exome_ASJ=0.2308;gnomAD_exome_EAS=0.0635;gnomAD_exome_FIN=0.2176;gnomAD_exome_NFE=0.2230;gnomAD_exome_OTH=0.1839;gnomAD_exome_SAS=0.0840;gnomAD_genome_ALL=0.2249;gnomAD_genome_AFR=0.2603;gnomAD_genome_AMR=0.1079;gnomAD_genome_ASJ=0.2417;gnomAD_genome_EAS=0.0696;gnomAD_genome_FIN=0.2137;gnomAD_genome_NFE=0.2293;gnomAD_genome_OTH=0.2342;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-96.9537,0,-188.357:221:131:90:2704:4167 . . 0/1:-100.192,0,-214.901:268:151:115:3464:4547 . . . 0/1:-92.1553,0,-192.394:234:136:96:2742:4197 . 0/1:-116.194,0,-140.987:207:101:105:2861:3137 . . 0/1:-103.421,0,-181.623:230:129:96:2761:4000 0/1:-382.273,0,-504.532:671:362:302:8972:11030 0/1:-65.8716,0,-131.154:166:96:69:2047:3016 . . . 0/1:-74.6223,0,-79.8887:128:63:64:1868:1991 0/1:-203.11,0,-204.735:367:187:176:5043:5530 0/1:-106.049,0,-183.091:225:127:96:2843:3922 0/1:-113.288,0,-109.368:187:82:102:2839:2559 0/1:-150.854,0,-189.506:273:137:134:3821:4180 . 0/1:-61.2986,0,-175.107:196:127:66:1985:3894 . 0/1:-69.8328,0,-125.241:135:71:64:1804:2264 . . . . . 0/1:-72.4752,0,-139.911:159:92:66:1932:2911 0/1:-109.319,0,-204.823:220:133:86:2682:4297 0/1:-120.367,0,-137.889:237:121:115:3411:3699 . 0/1:-120.78,0,-306.104:335:212:120:3437:6548 0/1:-127.362,0,-164.668:231:125:101:2816:3743 . . 0/1:-189.787,0,-256.768:338:182:151:4414:5610 0/1:-86.8171,0,-107.258:152:78:71:2062:2573 0/1:-152.037,0,-170.289:260:131:128:3941:3888 . . . . . . 0/1:-201.434,0,-268.21:372:197:171:4948:5984 . 0/1:-106.396,0,-225.178:257:150:103:3032:4797 . . 0/1:-131.663,0,-80.1405:154:67:85:2525:1972 . . 0/1:-234.677,0,-274.1:368:190:172:5025:5979 0/1:-124.945,0,-193.613:245:139:102:3131:4256 . . . . 0/1:-74.8098,0,-126.753:156:81:74:2136:2551 0/1:-79.036,0,-127.562:165:92:73:2108:2789 . . . . 0/1:-92.3491,0,-104.624:177:88:83:2281:2555 0/1:-74.1149,0,-172.947:213:132:77:2122:3966 . . . . 1/1:-101.323,-19.3769,0:77:1:74:2124:36 0/1:-99.2554,0,-207.771:246:142:101:2898:4371 . . . . . 0/1:-77.2341,0,-101.77:159:81:75:2076:2502 . 0/1:-116.167,0,-125.302:162:84:76:2330:2619 0/1:-98.4798,0,-121.518:169:92:76:2274:2776 0/1:-198.274,0,-292.456:385:215:166:5048:6521 0/1:-117.535,0,-186.726:244:139:101:3225:4078 0/1:-188.717,0,-255.237:389:209:175:4927:6422 . . . 0/1:-96.111,0,-198.96:154:97:55:1779:3065:97,55 0/1:-94.9105,0,-179.747:133:78:55:1764:2606:78,55 0/1:-145.463,0,-206.335:187:103:83:2643:3251:103,83 0/1:-91.7307,0,-27.181:59:20:39:1331:615:20,39 0/1:-131.332,0,-135.143:132:68:63:2087:2232:68,63 0/1:-191.755,0,-169.501:184:87:97:3044:2779:87,97 . 0/1:-110.224,0,-272.36:208:131:75:2324:4301:131,75 . . . 0/1:-142.124,0,-176.976:165:92:72:2339:2822:92,72 0/1:-120.848,0,-134.776:127:64:62:2002:2104:64,62 . . 0/1:-120.711,0,-137.854:137:74:63:2013:2385:74,63 . . 0/1:-150.048,0,-171.485:157:80:77:2419:2617:80,77 . chr20 42744802 . C T 240.02 . AB=0.5625;ABP=4.09604;AC=4;AF=0.5;AN=8;AO=18;CIGAR=1X;DP=195;DPB=32;DPRA=0;EPP=20.3821;EPPR=16.9077;GTI=0;LEN=1;MEANALT=2;MQM=29.8889;MQMR=30.8;NS=1;NUMALT=1;ODDS=19.1906;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=459;QR=312;RO=10;RPL=14;RPP=15.074;RPPR=6.48466;RPR=4;RUN=1;SAF=3;SAP=20.3821;SAR=15;SF=0;SRF=2;SRP=10.8276;SRR=8;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.G1513A:p.G505S;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.0071;esp6500siv2_ea=0.004;esp6500siv2_all=0.0071;esp6500siv2_ea=0.004;1000g2015aug_all=0.0153754;avsnp147=rs140740776;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;ExAC_ALL=0.0530;ExAC_AFR=0.1042;ExAC_AMR=0.0227;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0368;ExAC_OTH=0;ExAC_SAS=0.0728;CLNALLELEID=39415;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.617;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.122;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=0.26;FATHMM_pred=T;PROVEAN_score=0.13;PROVEAN_pred=N;VEST3_score=0.125;CADD_raw=0.202;CADD_phred=4.698;DANN_score=0.803;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.061;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.03;phyloP7way_vertebrate=-0.070;phyloP20way_mammalian=-0.649;phastCons7way_vertebrate=0.046;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=3.534;GDI_full_10282015=.;dpsi_max_tissue=-0.1187;dpsi_zscore=-0.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM073153#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0091;gnomAD_exome_AFR=0.0211;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0209;gnomAD_exome_EAS=0.0019;gnomAD_exome_FIN=0.0145;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0158;gnomAD_exome_SAS=0.0283;gnomAD_genome_ALL=0.0117;gnomAD_genome_AFR=0.0204;gnomAD_genome_AMR=0.0073;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0098;gnomAD_genome_NFE=0.0081;gnomAD_genome_OTH=0.0165;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-25.0375,0,-15.2447:32:10:18:459:312 . . . . . . . . . . . . . 0/1:-9.48724,0,-30.9186:27:17:8:214:560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-71.1592,0,-49.3997:76:27:44:1241:916 . . . . . . . 0/1:-39.1024,0,-73.3707:60:34:25:743:1188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42745033 . G A 3287.37 . AB=0.420472;ABP=37.8941;AC=2;AF=0.5;AN=4;AO=267;CIGAR=1X;DP=1253;DPB=635;DPRA=0;EPP=3.40881;EPPR=20.1775;GTI=0;LEN=1;MEANALT=3;MQM=30.5393;MQMR=31.9179;NS=1;NUMALT=1;ODDS=746.741;PAIRED=0.865169;PAIREDR=0.81155;PAO=0;PQA=0;PQR=0;PRO=0;QA=6847;QR=9573;RO=329;RPL=147;RPP=8.93915;RPPR=48.4792;RPR=120;RUN=1;SAF=125;SAP=5.3607;SAR=142;SF=0;SRF=175;SRP=5.921;SRR=154;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00738818;avsnp147=rs116986535;Kaviar_AF=0.0055627;Kaviar_AC=860;Kaviar_AN=154602;ExAC_ALL=0.0125;ExAC_AFR=0.0083;ExAC_AMR=0.0246;ExAC_EAS=0;ExAC_FIN=0.0833;ExAC_NFE=0.0269;ExAC_OTH=0.0072;ExAC_SAS=0.0060;CLNALLELEID=141311;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9441;dpsi_zscore=1.487;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0189;gnomAD_exome_AFR=0.0045;gnomAD_exome_AMR=0.0154;gnomAD_exome_ASJ=0.0165;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0257;gnomAD_exome_NFE=0.0308;gnomAD_exome_OTH=0.0229;gnomAD_exome_SAS=0.0064;gnomAD_genome_ALL=0.0217;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0286;gnomAD_genome_NFE=0.0320;gnomAD_genome_OTH=0.0265;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-333.993,0,-525.723:635:329:267:6847:9573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-342.684,0,-500.175:618:314:266:6829:9144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42747247 . C T 12178.31 . AB=0.434312;ABP=75.7563;AC=34;AF=0.5;AN=66;AO=843;CIGAR=1X;DP=61726;DPB=1941;DPRA=0;EPP=11.977;EPPR=12.9238;GTI=0;LEN=1;MEANALT=3;MQM=33.9715;MQMR=35.5879;NS=1;NUMALT=1;ODDS=2591.3;PAIRED=0.895611;PAIREDR=0.847981;PAO=0;PQA=0;PQR=0;PRO=0;QA=21365;QR=23860;RO=842;RPL=583;RPP=271.75;RPPR=322.552;RPR=260;RUN=1;SAF=417;SAP=3.21895;SAR=426;SF=0,1;SRF=413;SRP=3.67051;SRR=429;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.G1186A:p.A396T;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.1971;esp6500siv2_ea=0.1290;esp6500siv2_all=0.1971;esp6500siv2_ea=0.1290;1000g2015aug_all=0.270367;avsnp147=rs3810510;Kaviar_AF=0.17732;Kaviar_AC=27414;Kaviar_AN=154602;ExAC_ALL=0.1846;ExAC_AFR=0.3438;ExAC_AMR=0.0907;ExAC_EAS=0.3714;ExAC_FIN=0.1023;ExAC_NFE=0.1362;ExAC_OTH=0.1789;ExAC_SAS=0.2811;CLNALLELEID=141310;CLNDN=Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_pred=P;LRT_score=0.097;LRT_pred=N;MutationTaster_score=0.006;MutationTaster_pred=P;MutationAssessor_score=1.53;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_pred=D;VEST3_score=0.102;CADD_raw=5.490;CADD_phred=26.2;DANN_score=0.998;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.000;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=3.84;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.956;SiPhy_29way_logOdds=11.654;GDI_full_10282015=.;dpsi_max_tissue=1.6128;dpsi_zscore=1.827;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1768;gnomAD_exome_AFR=0.3488;gnomAD_exome_AMR=0.0963;gnomAD_exome_ASJ=0.1564;gnomAD_exome_EAS=0.3660;gnomAD_exome_FIN=0.1031;gnomAD_exome_NFE=0.1342;gnomAD_exome_OTH=0.1575;gnomAD_exome_SAS=0.2848;gnomAD_genome_ALL=0.1983;gnomAD_genome_AFR=0.3399;gnomAD_genome_AMR=0.1050;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.3668;gnomAD_genome_FIN=0.1030;gnomAD_genome_NFE=0.1291;gnomAD_genome_OTH=0.1656;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-1162.24,0,-1400.02:1941:842:843:21365:23860 1/1:-3605.28,-486.527,0:2275:33:1797:45648:862 . 0/1:-1146.12,0,-1405.32:1972:837:819:20851:23843 . . 0/1:-755.224,0,-1367.07:1547:773:567:14614:22413 . . . 0/1:-672.11,0,-1141.76:1302:634:481:12454:18524 . . 0/1:-2185.29,0,-2586.16:3532:1506:1488:37743:43968 . 0/1:-813.846,0,-1223.3:1475:683:582:14712:19967 . . . . . . . . . . . . . . . 0/1:-1080.04,0,-1698.73:2070:956:779:19646:27628 . . . . . 0/1:-863.308,0,-1257.58:1618:735:639:15752:20898 . . . 0/1:-1028.39,0,-1380.12:1803:803:728:18723:23227 0/1:-976.34,0,-1492.77:1865:871:706:17877:24763 . 0/1:-893.087,0,-1037.26:1361:602:588:15371:17543 . . 0/1:-805.245,0,-1277.44:1652:751:626:15705:21669 . 0/1:-1257.45,0,-1654.51:2168:973:897:22633:27776 . . . 0/1:-515.022,0,-801.717:1011:451:392:9772:13113 . . . 0/1:-1235.09,0,-1749.83:2238:993:898:22389:28518 . . 0/1:-1283.87,0,-1660.11:2132:945:887:22598:27244 . 0/1:-553.834,0,-808.029:1068:470:417:10298:13403 0/1:-1030.54,0,-1279.99:1691:749:714:18165:21829 0/1:-946.576,0,-1124.4:1569:655:677:16924:18938 . 0/1:-1031.46,0,-1253.89:1767:744:728:18234:21019 . 0/1:-1145.13,0,-1410.62:1907:821:801:20318:23455 . . 0/1:-1201.61,0,-1560.06:2133:932:882:21811:26468 . 0/1:-1196.81,0,-1674.27:2067:924:851:21260:27339 . . . . 0/1:-1275.04,0,-1547.19:2138:890:921:22635:26142 0/1:-902.264,0,-1277.83:1602:727:642:16140:21224 . . . . . 0/1:-809.862,0,-1186.93:1504:687:596:14896:19641 0/1:-1471.16,0,-1669.34:2368:969:1018:25651:28282 . . 0/1:-1112.47,0,-1612.83:1997:931:798:20336:26540 0/1:-1153.33,0,-1436.33:1899:853:775:20142:24074 . . . . . . . . 0/1:-1917.85,0,-2172.55:2198:1062:1034:29733:32665:1062,1034 0/1:-1938.14,0,-1783.82:1978:871:1020:29280:27225:871,1020 . . . . 0/1:-1599.32,0,-1999.74:1878:933:848:24685:29287:933,848 . . . . . . chr20 42747254 . G A 12708.69 . AB=0.408874;ABP=108.677;AC=23;AF=0.5;AN=44;AO=599;CIGAR=1X;DP=36502;DPB=1465;DPRA=0;EPP=54.3462;EPPR=14.9836;GTI=0;LEN=1;MEANALT=3;MQM=35.7362;MQMR=36.7544;NS=1;NUMALT=1;ODDS=2130.27;PAIRED=0.944908;PAIREDR=0.9;PAO=0;PQA=0;PQR=0;PRO=0;QA=17239;QR=23380;RO=790;RPL=361;RPP=57.8554;RPPR=138.477;RPR=238;RUN=1;SAF=244;SAP=47.6759;SAR=355;SF=0,1;SRF=376;SRP=6.97942;SRR=414;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.C1179T:p.H393H;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.0939;esp6500siv2_ea=0.1027;esp6500siv2_all=0.0939;esp6500siv2_ea=0.1027;1000g2015aug_all=0.048722;avsnp147=rs7268512;Kaviar_AF=0.0727675;Kaviar_AC=11250;Kaviar_AN=154602;ExAC_ALL=0.0715;ExAC_AFR=0.0805;ExAC_AMR=0.0392;ExAC_EAS=0.0094;ExAC_FIN=0.0786;ExAC_NFE=0.0937;ExAC_OTH=0.0622;ExAC_SAS=0.0295;CLNALLELEID=141309;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3260;dpsi_zscore=0.927;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0689;gnomAD_exome_AFR=0.0782;gnomAD_exome_AMR=0.0423;gnomAD_exome_ASJ=0.0574;gnomAD_exome_EAS=0.0084;gnomAD_exome_FIN=0.0786;gnomAD_exome_NFE=0.0951;gnomAD_exome_OTH=0.0731;gnomAD_exome_SAS=0.0289;gnomAD_genome_ALL=0.0840;gnomAD_genome_AFR=0.0783;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0.0148;gnomAD_genome_FIN=0.0704;gnomAD_genome_NFE=0.1001;gnomAD_genome_OTH=0.0845;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-954.169,0,-1483.16:1465:790:599:17239:23380 . . . . . 0/1:-2132.93,0,-2955.39:3059:1600:1320:37562:47827 0/1:-1170.92,0,-1403.99:1545:765:719:20321:22918 . . . . 0/1:-1228.91,0,-1948.46:1923:1048:785:22147:31184 0/1:-1086.19,0,-1547.26:1610:853:697:19496:25222 0/1:-804.868,0,-1024.1:1195:592:538:14883:17533 . . . . . . . . . . 0/1:-1441.03,0,-1797.29:1972:997:884:24921:29734 . . . . . . . . 0/1:-1095.63,0,-1409.41:1566:803:689:19555:23990 0/1:-1277.38,0,-1301.59:1605:744:788:21770:22369 . . . . . . 0/1:-1327.58,0,-1697.61:1877:952:832:23107:28406 . 0/1:-850.807,0,-1226.76:1240:651:529:14867:19624 . . . . . . . . . . . . 0/1:-898.5,0,-1327:1373:736:580:16134:22041 . . . . 0/1:-701.724,0,-831.379:1070:522:496:13692:14747 0/1:-880.025,0,-1187.03:1281:656:561:15752:19361 . . . . . . . . . . . 0/1:-791.41,0,-1020.84:1127:569:500:13833:16767 . . . 0/1:-1297.38,0,-2123.61:2065:1152:827:23320:34772 . . . . . 0/1:-1727.49,0,-1941.5:1810:923:866:26494:28746:923,866 0/1:-1834.06,0,-2062.92:1882:959:900:27723:30420:959,900 . . . . . 0/1:-1924.04,0,-1949.13:1879:922:938:29000:29404:922,938 . 1/1:-4631.59,-414.675,0:1943:61:1843:56104:1810:61,1843 . 0/1:-1187.26,0,-1513.31:1320:703:608:18370:22156:703,608 0/1:-1576.37,0,-1896.46:1695:889:779:24036:27831:889,779 . . . . . . . chr20 42788237 . CCA CCC 64.51 . AB=0.244681;ABP=162.683;AC=11;AF=0.5;AN=22;AO=69;CIGAR=2M1X;DP=2155;DPB=282.667;DPRA=0;EPP=19.6583;EPPR=4.33064;GTI=0;LEN=1;MEANALT=9;MQM=30.3478;MQMR=34.3266;NS=1;NUMALT=1;ODDS=31.6098;PAIRED=0.985507;PAIREDR=0.929648;PAO=0;PQA=0;PQR=0;PRO=2;QA=1355;QR=5609;RO=199;RPL=20;RPP=29.4771;RPPR=152.384;RPR=49;RUN=1;SAF=66;SAP=127.917;SAR=3;SF=1;SRF=146;SRP=97.3875;SRR=53;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-26.2654,0,-364.62:282:199:69:1355:5609:199,69 . 0/1:-21.728,0,-281.095:213:153:51:1006:4287:153,51 0/1:-35.8314,0,-148.124:133:79:47:937:2252:79,47 . 0/1:-9.15778,0,-332.821:233:172:51:931:4897:172,51 . 0/1:-40.7862,0,-261.152:219:138:65:1224:3930:138,65 0/1:-33.4982,0,-220.281:177:115:54:1041:3321:115,54 . . . 0/1:-12.2155,0,-283.73:207:151:46:915:4218:151,46 0/1:-27.0044,0,-174.555:146:94:47:868:2687:94,47 . 0/1:-40.6757,0,-187.347:165:100:57:1108:2851:100,57 0/1:-28.5362,0,-236.736:199:133:55:1020:3721:133,55 . . 0/1:-30.2032,0,-224.882:181:123:50:1013:3417:123,50 chr20 42788239 . A C 93.82 . AB=0.330049;ABP=53.9383;AC=39;AF=0.5;AN=78;AO=67;CIGAR=1X;DP=6217;DPB=203;DPRA=0;EPP=3.04271;EPPR=5.01601;GTI=0;LEN=1;MEANALT=3;MQM=23.403;MQMR=25.9389;NS=1;NUMALT=1;ODDS=13.0832;PAIRED=0.910448;PAIREDR=0.885496;PAO=0;PQA=0;PQR=0;PRO=0;QA=1147;QR=2485;RO=131;RPL=17;RPP=38.3048;RPPR=172.103;RPR=50;RUN=1;SAF=51;SAP=42.7126;SAR=16;SF=0;SRF=86;SRP=30.8748;SRR=45;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0842;dpsi_zscore=0.433;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-24.2542,0,-121.851:203:131:67:1147:2485 . 0/1:-21.9017,0,-83.5112:165:98:61:1086:1937 0/1:-25.6937,0,-97.8858:169:105:60:988:1980 0/1:-19.5402,0,-65.4697:134:79:49:755:1578 . . 0/1:-20.7467,0,-93.4344:165:101:59:987:1931 . . . 0/1:-18.4257,0,-46.8769:99:55:39:700:1140 . . 0/1:-23.8879,0,-38.5849:110:60:47:802:1182 0/1:-25.3004,0,-54.3722:111:62:43:734:1209 . . 0/1:-22.9197,0,-129.975:207:132:70:1184:2771 0/1:-21.016,0,-92.3891:183:114:64:1048:2278 . . . . 0/1:-20.8292,0,-50.7322:99:56:39:681:1101 0/1:-25.9173,0,-66.9189:129:78:47:879:1606 0/1:-34.265,0,-71.0365:146:79:59:1058:1546 . 0/1:-31.495,0,-133.139:228:140:78:1368:2840 0/1:-19.5292,0,-52.8983:99:57:39:639:1065 . 0/1:-30.3163,0,-157.08:251:153:87:1448:3110 . 0/1:-18.9913,0,-90.458:154:91:56:960:1741 0/1:-25.2616,0,-48.693:105:56:46:768:1108 . . . . 0/1:-22.9617,0,-115.967:207:122:77:1221:2515 0/1:-17.9096,0,-97.209:169:106:57:922:2021 . . . 0/1:-20.372,0,-123.858:165:104:54:919:2226 0/1:-31.6029,0,-129.946:189:118:66:1165:2483 . . . . . . . . 0/1:-22.148,0,-143.641:205:139:64:1163:2830 0/1:-19.3269,0,-72.6465:128:76:45:764:1623 . . . 0/1:-21.2162,0,-98.4427:190:117:65:1066:2289 . 0/1:-19.4002,0,-39.6855:86:47:38:628:950 0/1:-26.5755,0,-92.1895:144:90:52:957:1819 0/1:-19.0384,0,-116.386:170:109:53:880:2221 . . 0/1:-25.3651,0,-109.04:220:136:75:1253:2600 . 0/1:-14.6378,0,-37.9414:81:41:36:689:880 . . 0/1:-30.6157,0,-106.934:194:118:69:1144:2356 0/1:-21.7389,0,-64.4069:138:82:53:852:1672 . . . 0/1:-20.0252,0,-101.026:168:107:53:942:2129 . . . 0/1:-15.312,0,-90.1429:135:88:45:815:1699 . 0/1:-41.5701,0,-91.9142:194:107:77:1371:2081 . . 0/1:-32.2514,0,-103.427:164:102:56:1001:1985 0/1:-37.1191,0,-80.7768:164:97:62:1118:1828 0/1:-27.9141,0,-103.313:171:103:62:1028:2171 . 0/1:-19.3264,0,-94.5004:178:109:63:1080:2159 . . . . . . . . . . . . . . . . . . . . . chr20 42788245 . A C 139.83 . AB=0.348837;ABP=28.6135;AC=70;AF=0.5;AN=140;AO=45;CIGAR=1X;DP=13459;DPB=129;DPRA=0;EPP=11.1654;EPPR=4.79202;GTI=0;LEN=1;MEANALT=3;MQM=22.1333;MQMR=26.3077;NS=1;NUMALT=1;ODDS=14.1752;PAIRED=0.866667;PAIREDR=0.782051;PAO=0;PQA=0;PQR=0;PRO=0;QA=769;QR=1730;RO=78;RPL=10;RPP=33.1696;RPPR=84.19;RPR=35;RUN=1;SAF=26;SAP=5.37479;SAR=19;SF=0;SRF=55;SRP=31.5178;SRR=23;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0855;dpsi_zscore=0.437;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR 0/1:-17.4688,0,-82.888:129:78:45:769:1730 . 0/1:-25.9129,0,-114.304:174:105:59:986:2232 . 0/1:-31.3851,0,-114.097:195:120:69:1394:2398 . 0/1:-31.587,0,-113.412:175:103:66:1118:2196 0/1:-39.3999,0,-100.781:199:113:82:1437:2179 . . . 0/1:-38.6498,0,-128.417:201:127:70:1299:2562 0/1:-34.3405,0,-126.517:196:124:69:1255:2531 . . 0/1:-37.8903,0,-182.813:264:164:93:1569:3476 . 0/1:-71.5227,0,-239.17:393:234:149:2522:4947 . 0/1:-22.288,0,-70.7608:135:79:51:1004:1657 0/1:-15.6435,0,-103.189:145:94:46:772:1969 0/1:-18.565,0,-139.24:204:132:65:1173:2734 0/1:-19.9557,0,-55.0652:94:54:38:630:1240 . . . 0/1:-25.1915,0,-119.164:174:113:58:1029:2396 0/1:-30.4449,0,-108.202:206:126:73:1262:2574 0/1:-19.8792,0,-85.6763:156:98:53:919:2115 0/1:-27.5368,0,-74.739:124:72:49:862:1507 0/1:-19.9901,0,-94.012:159:98:57:1012:1980 0/1:-38.2259,0,-97.0979:189:112:68:1259:1978 0/1:-23.7971,0,-142.9:208:134:68:1283:2802 0/1:-56.6823,0,-145.584:264:151:107:1878:3099 . . 0/1:-44.3743,0,-185.735:299:183:109:1930:3696 0/1:-16.6602,0,-65.9938:108:62:41:716:1358 0/1:-20.1954,0,-143.058:187:122:59:983:2638 0/1:-19.2332,0,-88.1676:131:83:46:835:1668 0/1:-32.3672,0,-126.86:203:126:70:1275:2595 0/1:-20.2295,0,-106.841:174:114:56:1053:2284 0/1:-23.0247,0,-136.328:192:119:66:1189:2463 . 0/1:-30.8687,0,-145.837:244:150:86:1450:3164 0/1:-40.7551,0,-132.695:212:130:76:1384:2672 0/1:-40.6755,0,-141.854:224:142:80:1447:2933 . . 0/1:-29.4102,0,-151.754:208:140:64:1150:2834 0/1:-51.8716,0,-140.994:229:126:98:1805:2652 0/1:-27.0924,0,-125.349:205:127:74:1226:2559 . 0/1:-35.4013,0,-167.984:267:161:100:1783:3559 0/1:-31.5529,0,-116.381:185:109:68:1140:2341 0/1:-27.8483,0,-86.4894:140:86:51:893:1785 0/1:-30.3762,0,-151.332:240:154:82:1456:3113 0/1:-16.7118,0,-86.0042:127:78:45:771:1662 . 0/1:-33.5733,0,-161.266:237:157:78:1472:3131 0/1:-23.7535,0,-98.0506:148:92:56:997:2143 0/1:-36.6022,0,-133.887:224:134:81:1514:2696 . 0/1:-15.8717,0,-88.0731:140:86:48:759:1693 0/1:-27.7022,0,-147.19:241:151:82:1400:3062 0/1:-28.6785,0,-131.003:214:131:77:1327:2585 0/1:-18.7076,0,-67.2957:105:64:38:718:1377 0/1:-30.8675,0,-121.302:176:110:65:1075:2219 0/1:-25.9618,0,-163.845:206:134:69:1152:3018 . 0/1:-29.1844,0,-109.986:187:116:67:1185:2284 0/1:-38.1551,0,-183.983:282:186:93:1691:3801 0/1:-30.3108,0,-136.821:220:135:77:1304:2772 0/1:-18.8941,0,-68.9822:106:62:43:881:1391 . 0/1:-29.2328,0,-186.419:282:185:92:1646:3652 0/1:-55.7537,0,-155.118:246:143:97:1699:3209 0/1:-30.7001,0,-94.4872:174:101:64:1181:2019 0/1:-14.9681,0,-82.1252:132:83:46:777:1689 0/1:-16.6577,0,-35.1422:89:47:36:647:796 0/1:-24.2482,0,-101.39:169:100:64:1123:2092 0/1:-24.0952,0,-157.36:216:138:70:1211:3007 0/1:-39.6896,0,-134.648:234:139:84:1508:2878 0/1:-23.2275,0,-132.35:194:125:65:1137:2593 0/1:-29.3802,0,-128.523:209:123:79:1460:2799 . 0/1:-24.4834,0,-95.9711:130:83:44:850:1767 0/1:-36.7107,0,-125.911:224:134:83:1550:2885 0/1:-20.0262,0,-63.0196:102:65:35:651:1293 0/1:-24.7593,0,-127.46:172:111:59:1005:2440 0/1:-38.3114,0,-147.458:209:133:72:1333:2692 0/1:-21.5814,0,-140.31:190:126:62:1013:2676 . 0/1:-25.1534,0,-148.329:228:141:76:1350:3023 0/1:-23.8601,0,-138.504:214:137:72:1405:2882 . . . . . . . . . . . . . . . . . . . . . chr20 42788790 . G A 34.07 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=40;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=50;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon2:c.C637T:p.R213W;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs767328866;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0132;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0012;CLNALLELEID=198534;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.029;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.446;Polyphen2_HVAR_pred=B;LRT_score=0.944;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.05;FATHMM_pred=T;PROVEAN_score=-2.88;PROVEAN_pred=D;VEST3_score=0.364;CADD_raw=5.096;CADD_phred=25.3;DANN_score=0.996;fathmm-MKL_coding_score=0.208;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.877;MetaSVM_pred=T;MetaLR_score=0.182;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=3.12;phyloP7way_vertebrate=-0.141;phyloP20way_mammalian=0.700;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.008;SiPhy_29way_logOdds=11.723;GDI_full_10282015=.;dpsi_max_tissue=-0.0141;dpsi_zscore=-0.065;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0138;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.135e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0052;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.61077,-0.60206,0:2:0:2:50:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42789053 . G A 3649.30 . AB=0.41924;ABP=50.7105;AC=2;AF=0.5;AN=4;AO=353;CIGAR=1X;DP=1496;DPB=842;DPRA=0;EPP=3.01645;EPPR=23.5991;GTI=0;LEN=1;MEANALT=3;MQM=28.4901;MQMR=32.0023;NS=1;NUMALT=1;ODDS=836.134;PAIRED=0.72238;PAIREDR=0.768519;PAO=0;PQA=0;PQR=0;PRO=0;QA=8783;QR=12928;RO=432;RPL=188;RPP=6.26443;RPPR=6.40825;RPR=165;RUN=1;SAF=216;SAP=41.4017;SAR=137;SF=0,1;SRF=249;SRP=24.906;SRR=183;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0021;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0021;1000g2015aug_all=0.00199681;avsnp147=rs201197277;Kaviar_AF=0.002652;Kaviar_AC=410;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0007;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0032;ExAC_OTH=0.0079;ExAC_SAS=0.0142;CLNALLELEID=141307;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0384;dpsi_zscore=0.242;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0028;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0.0113;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-376.704,0,-725.281:842:432:353:8783:12928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-395.272,0,-760.731:654:368:250:7092:11437:368,250 . . . . . . . chr20 42806645 . G A 10348.10 . AB=0.472103;ABP=10.8854;AC=1;AF=0.5;AN=2;AO=550;CIGAR=1X;DP=1165;DPB=1165;DPRA=0;EPP=7.05319;EPPR=3.06979;GTI=0;LEN=1;MEANALT=3;MQM=38.8436;MQMR=39.1678;NS=1;NUMALT=1;ODDS=2382.74;PAIRED=0.952727;PAIREDR=0.938356;PAO=0;PQA=0;PQR=0;PRO=0;QA=16671;QR=18318;RO=584;RPL=359;RPP=114.442;RPPR=110.468;RPR=191;RUN=1;SAF=194;SAP=106.625;SAR=356;SF=0;SRF=229;SRP=62.0416;SRR=355;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs758960565;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.239e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.206e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.831e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1065.27,0,-1204.26:1165:584:550:16671:18318 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42815120 . T C 2476.78 . AB=0.428322;ABP=28.5365;AC=1;AF=0.5;AN=2;AO=245;CIGAR=1X;DP=572;DPB=572;DPRA=0;EPP=40.4571;EPPR=14.2282;GTI=0;LEN=1;MEANALT=3;MQM=26.7796;MQMR=30.0038;NS=1;NUMALT=1;ODDS=570.3;PAIRED=0.914286;PAIREDR=0.901887;PAO=0;PQA=0;PQR=0;PRO=0;QA=6064;QR=7065;RO=265;RPL=83;RPP=58.3252;RPPR=51.5939;RPR=162;RUN=1;SAF=121;SAP=3.09007;SAR=124;SF=0;SRF=136;SRP=3.41182;SRR=129;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon1:c.A226G:p.T76A,JPH2:NM_175913:exon1:c.A226G:p.T76A;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764474492;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.24e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=446245;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.126;SIFT_pred=T;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.963;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.715;MutationAssessor_pred=L;FATHMM_score=0.98;FATHMM_pred=T;PROVEAN_score=-3.07;PROVEAN_pred=D;VEST3_score=0.534;CADD_raw=4.909;CADD_phred=25.0;DANN_score=0.988;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.887;MetaSVM_pred=T;MetaLR_score=0.190;MetaLR_pred=T;integrated_fitCons_score=0.546;integrated_confidence_value=1;GERP++_RS=4.56;phyloP7way_vertebrate=0.987;phyloP20way_mammalian=1.059;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.982;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.626e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.691e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.483e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.697e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-264.569,0,-350.389:572:265:245:6064:7065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 42815190 . G A 21303.80 . AB=0;ABP=0;AC=196;AF=1;AN=224;AO=862;CIGAR=1X;DP=133380;DPB=885;DPRA=0;EPP=17.5607;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=32;MQMR=29.3333;NS=1;NUMALT=1;ODDS=1177.12;PAIRED=0.822506;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24918;QR=60;RO=3;RPL=384;RPP=25.2692;RPPR=3.73412;RPR=478;RUN=1;SAF=329;SAP=107.846;SAR=533;SF=0,1;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.8663;esp6500siv2_ea=0.8293;esp6500siv2_all=0.8663;esp6500siv2_ea=0.8293;1000g2015aug_all=0.854233;avsnp147=rs1883790;Kaviar_AF=0.83832;Kaviar_AC=129606;Kaviar_AN=154602;ExAC_ALL=0.8450;ExAC_AFR=0.9394;ExAC_AMR=0.9240;ExAC_EAS=0.7468;ExAC_FIN=0.8417;ExAC_NFE=0.8316;ExAC_OTH=0.8565;ExAC_SAS=0.8359;CLNALLELEID=141305;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8455;gnomAD_exome_AFR=0.9388;gnomAD_exome_AMR=0.9157;gnomAD_exome_ASJ=0.8447;gnomAD_exome_EAS=0.7481;gnomAD_exome_FIN=0.8464;gnomAD_exome_NFE=0.8292;gnomAD_exome_OTH=0.8395;gnomAD_exome_SAS=0.8367;gnomAD_genome_ALL=0.8612;gnomAD_genome_AFR=0.9363;gnomAD_genome_AMR=0.9043;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.7379;gnomAD_genome_FIN=0.8314;gnomAD_genome_NFE=0.8375;gnomAD_genome_OTH=0.8432;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1828.93,-255.801,0:885:3:862:24918:60 . 1/1:-2595.47,-344.559,0:1196:6:1173:34441:141 1/1:-1597.69,-215.825,0:738:1:720:21323:14 1/1:-2596.78,-345.202,0:1226:9:1198:34752:206 1/1:-3281.21,-447.889,0:1585:12:1548:45390:295 1/1:-2070.13,-269.702,0:974:9:944:28026:214 1/1:-2731.96,-358.709,0:1321:15:1276:37683:422 0/1:-735.834,0,-1043.02:1048:555:474:13810:17909 1/1:-2402.43,-322.488,0:1137:7:1107:32400:180 1/1:-2306.92,-312.437,0:1094:5:1065:31186:121 1/1:-2434.93,-325.069,0:1129:6:1103:32454:106 0/1:-882.866,0,-967.56:1137:561:557:16423:18105 0/1:-718.106,0,-1039.91:1099:581:498:14438:18443 1/1:-1827.99,-233.423,0:868:11:838:24918:293 0/1:-1362.34,0,-1874.56:1899:995:879:26030:32144 1/1:-1658.82,-239.503,0:834:5:806:22777:70 1/1:-5507.94,-737.493,0:2626:20:2549:73808:472 1/1:-2063.62,-280.494,0:956:4:939:28249:56 1/1:-2003.13,-274.471,0:946:2:918:26577:28 0/1:-663.429,0,-888.076:950:500:436:12281:15996 0/1:-1043.6,0,-1239.08:1343:675:648:19097:21899 1/1:-1376.66,-192.561,0:662:3:642:18968:55 1/1:-3080.32,-409.635,0:1422:6:1393:41469:164 1/1:-2899.76,-405.505,0:1421:9:1376:40111:139 1/1:-1935.68,-271.184,0:963:6:929:26571:127 0/1:-1049.44,0,-1150.87:1297:645:633:18615:20541 1/1:-2644.01,-344.936,0:1207:6:1170:34819:102 1/1:-1937.8,-275.558,0:969:5:934:26652:92 1/1:-1871.8,-241.265,0:886:8:864:24787:253 1/1:-2092.93,-277.927,0:974:6:948:28020:128 0/1:-941.365,0,-1563.81:1452:814:621:18701:26229 0/1:-982.747,0,-1276.31:1379:714:635:18364:22672 . 1/1:-2445.11,-322.279,0:1114:4:1096:32396:113 0/1:-845.879,0,-1234.03:1286:697:565:16541:21654 1/1:-3170.42,-437.066,0:1534:7:1489:43103:178 1/1:-2220.82,-281.716,0:989:6:969:28980:142 0/1:-893.72,0,-1089.23:1204:586:589:17036:18838 1/1:-1894.01,-261.47,0:918:9:891:25532:126 1/1:-2856.98,-367.402,0:1311:9:1277:38063:236 1/1:-2373.81,-325.723,0:1186:10:1151:32267:290 0/1:-983.489,0,-1441.43:1369:729:622:18202:23548 0/1:-883.191,0,-1084.16:1187:591:574:16439:19005 1/1:-3143.38,-415.13,0:1449:6:1405:41273:126 1/1:-2564.13,-346.024,0:1225:6:1183:34301:141 1/1:-2689.59,-352.989,0:1324:20:1277:37123:484 1/1:-1348.81,-189.348,0:640:0:629:18209:0 0/1:-694.23,0,-860.913:913:476:423:12591:15054 1/1:-2919.76,-391.628,0:1380:9:1342:39486:177 1/1:-2626.75,-364.49,0:1253:2:1220:35554:50 1/1:-2079.94,-300.8,0:1044:6:1013:28960:97 1/1:-2825.33,-371.949,0:1303:6:1270:37148:146 1/1:-3124.7,-439.981,0:1521:6:1484:42732:124 1/1:-1642.14,-230.627,0:797:3:775:21802:60 1/1:-2030.48,-274.647,0:957:5:926:26993:70 1/1:-2841.85,-379.972,0:1374:9:1337:38945:302 1/1:-1288.75,-181.587,0:661:6:642:18111:164 1/1:-1635.22,-220.874,0:773:5:753:22776:118 0/1:-1041.11,0,-1496.62:1523:800:699:20189:25616 1/1:-1541.27,-218.004,0:766:5:740:21287:70 1/1:-3346.24,-467.106,0:1613:7:1574:45504:123 1/1:-2593.68,-351.366,0:1215:4:1186:34932:78 0/1:-591.49,0,-893.082:898:482:398:11477:15571 1/1:-3283.76,-428.706,0:1511:7:1467:43461:177 0/1:-1060.47,0,-1183.36:1365:667:674:19712:21047 1/1:-1240.5,-179.577,0:653:6:624:17681:137 1/1:-2307.44,-312.278,0:1082:2:1046:31058:41 1/1:-2511.9,-351.755,0:1239:6:1206:34063:150 1/1:-2408.08,-316.446,0:1196:14:1150:33589:429 0/1:-935.637,0,-1128.95:1260:621:620:17803:19822 0/1:-1173.28,0,-1519.17:1616:840:744:21839:26561 1/1:-2550.81,-352.142,0:1222:6:1193:34710:124 0/1:-516.77,0,-679.183:797:407:377:10742:12581 1/1:-2032.96,-275.959,0:979:5:954:27399:145 1/1:-3032.33,-418.569,0:1487:13:1440:41573:319 1/1:-2990.73,-403.533,0:1420:8:1376:40468:156 1/1:-2804.33,-369.084,0:1317:12:1288:37791:274 0/1:-558.449,0,-799.752:859:442:397:11257:13903 1/1:-1479.76,-207.175,0:716:4:697:20032:78 0/1:-764.836,0,-1218.16:1234:681:536:15745:21442 1/1:-2928.62,-400.185,0:1412:6:1367:39822:150 1/1:-2972.83,-433.372,0:1485:2:1446:40835:28 1/1:-2218.03,-300.877,0:1057:8:1032:29796:169 1/1:-2309.45,-323.464,0:1151:9:1117:31894:188 1/1:-2448.28,-333.792,0:1178:6:1140:33319:128 1/1:-1655.64,-236.127,0:811:2:796:22706:46 1/1:-2422.77,-329.295,0:1188:8:1144:33286:218 1/1:-1528.52,-211.437,0:738:3:718:20747:64 1/1:-2142.19,-280.459,0:1023:10:990:28755:268 1/1:-3310.89,-448.066,0:1632:16:1573:45231:390 0/1:-846.889,0,-1256.48:1256:667:567:16415:21453 . 1/1:-3069.14,-423.403,0:1461:7:1423:40819:160 1/1:-2802.48,-401.399,0:1378:2:1345:38307:46 . 1/1:-3674.7,-406.929,0:1438:8:1411:44745:244:8,1411 1/1:-3416.55,-381.784,0:1332:6:1310:41955:163:6,1310 1/1:-3690.36,-402.159,0:1430:10:1408:45027:317:10,1408 1/1:-2311.11,-266.111,0:891:0:884:28070:0:0,884 1/1:-2967.74,-334.138,0:1148:2:1129:35776:72:2,1129 1/1:-3703.43,-409.95,0:1452:8:1428:45418:266:8,1428 1/1:-3047.05,-349.839,0:1184:2:1171:37286:50:2,1171 1/1:-3482.56,-396.758,0:1328:0:1318:42341:0:0,1318 1/1:-3218.53,-361.91,0:1249:5:1238:39541:167:5,1238 1/1:-3631.15,-403.51,0:1405:5:1382:43908:158:5,1382 0/1:-1560.44,0,-1563.76:1514:750:753:24249:24403:750,753 0/1:-962.68,0,-1370.26:1129:633:487:15668:20586:633,487 1/1:-3079.74,-342.223,0:1208:6:1183:37736:177:6,1183 1/1:-3128.24,-342.798,0:1214:8:1198:38119:262:8,1198 1/1:-3319.46,-371.74,0:1276:3:1261:40047:99:3,1261 1/1:-3114.78,-354.065,0:1221:5:1204:38335:136:5,1204 1/1:-3479.17,-377.681,0:1343:9:1317:41894:263:9,1317 0/1:-1071.11,0,-1332.64:1192:633:553:17750:20467:633,553 0/1:-931.035,0,-1292.96:1084:597:480:15303:19277:597,480 0/1:-1250.7,0,-1387.81:1269:646:611:19502:21016:646,611 chr20 61039957 . TT TC,GT 2315.50 . AB=0;ABP=0;AC=7,0;AF=0;AN=36;AO=38;CIGAR=1X;DP=7888;DPB=455;DPRA=0;EPP=69.0688;EPPR=95.2926;GTI=0;LEN=1;MEANALT=3;MQM=36.2368;MQMR=39.0683;NS=1;NUMALT=1;ODDS=388.668;PAIRED=0.868421;PAIREDR=0.836585;PAO=0;PQA=0;PQR=0;PRO=0;QA=750;QR=11414;RO=410;RPL=6;RPP=41.6397;RPPR=245.558;RPR=32;RUN=1;SAF=8;SAP=30.668;SAR=30;SF=1;SRF=219;SRP=7.16258;SRR=191;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=GATA5:NM_080473:exon7:c.1128delA:p.P376fs;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.A1129C:p.S377R;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.627;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.1;Polyphen2_HVAR_pred=B;LRT_score=0.123;LRT_pred=N;MutationTaster_score=0.871;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=-4.94;FATHMM_pred=D;PROVEAN_score=-3.16;PROVEAN_pred=D;VEST3_score=0.056;CADD_raw=1.828;CADD_phred=15.15;DANN_score=0.979;fathmm-MKL_coding_score=0.765;fathmm-MKL_coding_pred=D;MetaSVM_score=0.476;MetaSVM_pred=D;MetaLR_score=0.820;MetaLR_pred=D;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=1.83;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=-0.300;phastCons7way_vertebrate=0.027;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=7.230;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-898.1:455:410:.,38:.,750:11414:410,38 0/0:.,.,.,.,.,-982.897:470:437:.,32:.,646:12243:437,32 0/0:.,.,.,.,.,-1035.53:493:457:.,33:.,699:13166:457,33 . 0/0:.,.,.,.,.,-872.659:425:391:.,32:.,641:11045:391,32 0/0:.,.,.,.,.,-984.342:478:444:.,32:.,630:12396:444,32 . 1/1:-902.839,-106.305,0,.,.,.:410:1:359,.:10751,.:23:1,359 0/0:.,.,.,.,.,-895.065:418:383:.,30:.,486:11076:383,30 0/0:.,.,.,.,.,-1148.43:555:514:.,36:.,780:14399:514,36 0/0:.,.,.,.,.,-873.081:432:394:.,37:.,745:11125:394,37 0/0:.,.,.,.,.,-687.987:327:304:.,22:.,435:8502:304,22 0/0:.,.,.,.,.,-901.532:425:396:.,27:.,449:11146:396,27 0/0:.,.,.,.,.,-723.151:347:318:.,28:.,507:9094:318,28 0/0:.,.,.,.,.,-1045.72:515:474:.,38:.,781:13336:474,38 1/1:-908.801,-99.3448,0,.,.,.:409:4:356,.:10929,.:101:4,356 0/0:.,.,.,.,.,-900.454:464:418:.,45:.,868:11544:418,45 0/0:.,.,.,.,.,-826.013:380:359:.,21:.,456:10025:359,21 1/1:-860.595,-98.7378,0,.,.,.:356:0:328,.:10155,.:0:0,328 0/1:-453.473,0,-432.037,.,.,.:529:233:230,.:6967,.:6629:233,230 chr20 61039958 . T C,G 4613.54 . AB=0;ABP=0;AC=109,0;AF=1;AN=164;AO=324;CIGAR=1X;DP=37313;DPB=334;DPRA=0;EPP=57.2971;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=30.0833;MQMR=32;NS=1;NUMALT=1;ODDS=411.443;PAIRED=0.771605;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=8557;QR=128;RO=6;RPL=101;RPP=102.764;RPPR=4.45795;RPR=223;RUN=1;SAF=166;SAP=3.43923;SAR=158;SF=0,1;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.A1128G:p.P376P;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=0.6006;esp6500siv2_ea=0.5094;esp6500siv2_all=0.6006;esp6500siv2_ea=0.5094;1000g2015aug_all=0.629193;avsnp147=rs6061550;Kaviar_AF=0.532716;Kaviar_AC=82359;Kaviar_AN=154602;ExAC_ALL=0.5504;ExAC_AFR=0.7971;ExAC_AMR=0.4291;ExAC_EAS=0.5205;ExAC_FIN=0.5229;ExAC_NFE=0.5152;ExAC_OTH=0.5491;ExAC_SAS=0.6518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5374;gnomAD_exome_AFR=0.8023;gnomAD_exome_AMR=0.4333;gnomAD_exome_ASJ=0.5052;gnomAD_exome_EAS=0.5123;gnomAD_exome_FIN=0.5147;gnomAD_exome_NFE=0.5142;gnomAD_exome_OTH=0.5200;gnomAD_exome_SAS=0.6482;gnomAD_genome_ALL=0.6055;gnomAD_genome_AFR=0.8005;gnomAD_genome_AMR=0.4432;gnomAD_genome_ASJ=0.5265;gnomAD_genome_EAS=0.5012;gnomAD_genome_FIN=0.5152;gnomAD_genome_NFE=0.5374;gnomAD_genome_OTH=0.5619;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.A1128C:p.P376P;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-603.131,-88.6401,0,.,.,.:334:6:324,.:8557,.:128 . 0/1:-258.353,0,-203.11,.,.,.:381:165:187,.:5121,.:4241 1/1:-603.895,-93.0039,0,.,.,.:324:1:312,.:8527,.:14 1/1:-749.332,-124.851,0,.,.,.:437:2:422,.:10642,.:50 1/1:-1072.68,-163.877,0,.,.,.:607:7:576,.:15365,.:138 . . 0/1:-240.118,0,-225.525,.,.,.:370:166:178,.:4814,.:4411 1/1:-856.732,-133.4,0,.,.,.:478:4:458,.:12219,.:78 0/1:-194.767,0,-275.026,.,.,.:397:203:169,.:4592,.:5270 0/1:-265.726,0,-250.725,.,.,.:419:175:207,.:5487,.:4815 . 0/1:-250.007,0,-226.738,.,.,.:390:170:190,.:5060,.:4499 . 1/1:-1185.05,-172.776,0,.,.,.:656:11:628,.:16810,.:229 . 1/1:-1841.53,-273.473,0,.,.,.:1006:13:958,.:25607,.:283 . 0/1:-197.057,0,-182.721,.,.,.:314:149:144,.:3847,.:3761 0/1:-252.574,0,-190.428,.,.,.:377:168:178,.:4843,.:4280 . 0/1:-197.577,0,-158.6,.,.,.:294:123:149,.:4047,.:3203 0/1:-434.039,0,-334.981,.,.,.:623:276:310,.:8553,.:6909 0/1:-296.06,0,-304.77,.,.,.:521:231:245,.:6467,.:6185 1/1:-569.861,-87.3371,0,.,.,.:315:6:300,.:7872,.:102 0/1:-338.698,0,-267.279,.,.,.:501:221:251,.:6701,.:5707 1/1:-704.604,-103.659,0,.,.,.:386:4:368,.:9937,.:118 0/1:-209.48,0,-246.277,.,.,.:389:188:178,.:4620,.:4795 0/1:-229.489,0,-281.304,.,.,.:390:183:176,.:4849,.:4891 0/1:-282.188,0,-246.933,.,.,.:439:198:213,.:5671,.:4963 . 0/1:-392.688,0,-280.603,.,.,.:557:233:287,.:7742,.:5925 1/1:-816.75,-133.945,0,.,.,.:470:1:448,.:11511,.:14 0/1:-333.499,0,-295.123,.,.,.:470:209:238,.:6315,.:5499 0/1:-299.614,0,-280.561,.,.,.:482:215:237,.:6269,.:5402 . 0/1:-228.08,0,-261.203,.,.,.:401:198:174,.:4929,.:5046 1/1:-672.018,-110.428,0,.,.,.:403:3:387,.:9903,.:78 0/1:-258.379,0,-248.66,.,.,.:414:188:196,.:5114,.:4676 1/1:-1042.08,-158.759,0,.,.,.:568:6:546,.:14893,.:97 . . 1/1:-707.32,-103.861,0,.,.,.:378:5:364,.:9880,.:88 0/1:-302.749,0,-379.416,.,.,.:543:268:241,.:6527,.:7159 0/1:-345.964,0,-277.042,.,.,.:499:209:253,.:6881,.:5433 0/1:-306.704,0,-351.757,.,.,.:527:253:247,.:6623,.:6697 0/1:-150.401,0,-189.272,.,.,.:277:135:122,.:3132,.:3621 1/1:-619.35,-90.8212,0,.,.,.:343:5:325,.:8654,.:95 1/1:-1089.28,-167.851,0,.,.,.:594:3:567,.:15037,.:42 1/1:-1038.03,-151.242,0,.,.,.:575:11:547,.:14573,.:251 0/1:-249.044,0,-213.78,.,.,.:376:163:193,.:5072,.:4336 1/1:-1026.32,-153.008,0,.,.,.:532:2:517,.:14162,.:41 0/1:-406.841,0,-336.449,.,.,.:605:255:303,.:8065,.:6534 . 0/1:-202.229,0,-217.769,.,.,.:356:166:171,.:4410,.:4364 1/1:-845.307,-131.839,0,.,.,.:477:3:459,.:11867,.:82 0/1:-186.42,0,-123.379,.,.,.:265:110:139,.:3666,.:2675 . . . 1/1:-1114.95,-177.344,0,.,.,.:625:4:605,.:16025,.:74 . . 0/1:-310.101,0,-360.81,.,.,.:542:257:256,.:6895,.:6950 . 1/1:-433.626,-66.2377,0,.,.,.:259:4:247,.:6581,.:118 . . 0/1:-369.554,0,-311.016,.,.,.:567:255:275,.:7176,.:6530 . 0/1:-354.15,0,-355.682,.,.,.:588:265:275,.:7522,.:7250 1/1:-911.326,-131.728,0,.,.,.:481:4:457,.:12378,.:91 0/1:-126.365,0,-153.372,.,.,.:250:124:102,.:2705,.:3214 0/1:-200.638,0,-208.287,.,.,.:364:168:164,.:4347,.:4548 0/1:-401.368,0,-264.993,.,.,.:509:211:267,.:7130,.:5548 1/1:-1026.63,-147.423,0,.,.,.:548:6:523,.:14072,.:146 0/1:-357.344,0,-339.559,.,.,.:554:247:266,.:6903,.:6756 0/1:-193.004,0,-134.351,.,.,.:270:111:139,.:3903,.:2833 1/1:-572.079,-88.4816,0,.,.,.:305:1:297,.:7830,.:14 . 1/1:-946.97,-151.046,0,.,.,.:553:6:525,.:13699,.:134 1/1:-895.57,-143.341,0,.,.,.:495:1:476,.:12397,.:14 0/1:-319.567,0,-241.488,.,.,.:436:181:236,.:6428,.:4815 . 0/1:-265.419,0,-279.924,.,.,.:478:213:230,.:5761,.:5567 . . 1/1:-467.122,-73.7524,0,.,.,.:250:0:245,.:6467,.:0 1/1:-821.731,-124.204,0,.,.,.:452:4:428,.:11778,.:98 0/1:-355.507,0,-422.887,.,.,.:641:312:281,.:7565,.:8166 1/1:-783.545,-111.085,0,.,.,.:414:7:392,.:10841,.:123 0/1:-333.758,0,-335.699,.,.,.:542:260:247,.:6477,.:6643 0/1:-417.152,0,-275.411,.,.,.:518:214:279,.:7609,.:5497 0/1:-261.245,0,-339.257,.,.,.:514:254:219,.:5733,.:6539 . 0/1:-290.959,0,-525.85,.,.,.:455:263:177,.:5146,.:7781:263,177 0/1:-400.502,0,-444.678,.,.,.:467:235:216,.:6314,.:6853:235,216 0/1:-437.606,0,-468.013,.,.,.:494:245:231,.:6913,.:7331:245,231 0/1:-285.332,0,-266.552,.,.,.:297:141:146,.:4434,.:4046:141,146 0/1:-333.532,0,-432.125,.,.,.:423:221:184,.:5481,.:6578:221,184 0/1:-438.626,0,-460.911,.,.,.:476:237:229,.:6839,.:7226:237,229 . . . 0/1:-493.784,0,-500.105,.,.,.:552:270:264,.:7878,.:7762:270,264 0/1:-435.456,0,-352.406,.,.,.:431:197:221,.:6593,.:5687:197,221 0/1:-319.291,0,-296.163,.,.,.:327:158:162,.:4910,.:4545:158,162 0/0:0,.,.,-94.047,.,-956.894:425:398:.,24:.,422:11881:398,24 . 0/1:-476.172,0,-427.622,.,.,.:511:243:255,.:7474,.:6950:243,255 . 0/1:-431.491,0,-420.732,.,.,.:463:221:228,.:6755,.:6540:221,228 0/1:-375.364,0,-358.054,.,.,.:377:182:186,.:5654,.:5418:182,186 . . chr20 61040376 . A C 39.11 . AB=0.545455;ABP=3.20771;AC=2;AF=0.5;AN=4;AO=6;CIGAR=1X;DP=38;DPB=11;DPRA=0;EPP=16.0391;EPPR=6.91895;GTI=0;LEN=1;MEANALT=1;MQM=17.5;MQMR=8;NS=1;NUMALT=1;ODDS=6.95552;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=154;QR=167;RO=5;RPL=5;RPP=8.80089;RPPR=6.91895;RPR=1;RUN=1;SAF=5;SAP=8.80089;SAR=1;SF=0;SRF=2;SRP=3.44459;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs782610369;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.356e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.391e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1332;dpsi_zscore=0.576;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.885e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.056e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.08546,0,-0.319992:11:5:6:154:167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-13.8865,0,-8.94622:27:13:13:304:291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 61040381 . A C 42.83 . AB=0.6;ABP=5.18177;AC=1;AF=0.5;AN=2;AO=15;CIGAR=1X;DP=25;DPB=25;DPRA=0;EPP=27.4756;EPPR=16.9077;GTI=0;LEN=1;MEANALT=1;MQM=26.9333;MQMR=30.7;NS=1;NUMALT=1;ODDS=9.86245;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=284;QR=300;RO=10;RPL=11;RPP=10.1038;RPPR=3.87889;RPR=4;RUN=1;SAF=12;SAP=14.7363;SAR=3;SF=0;SRF=7;SRP=6.48466;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0151;dpsi_zscore=0.103;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-13.8717,0,-14.472:25:10:15:284:300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 61040386 . A C 34.75 . AB=0.409091;ABP=4.58955;AC=2;AF=0.5;AN=4;AO=9;CIGAR=1X;DP=51;DPB=22;DPRA=0;EPP=5.18177;EPPR=9.52472;GTI=0;LEN=1;MEANALT=2;MQM=25.2222;MQMR=23.25;NS=1;NUMALT=1;ODDS=5.47072;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=217;QR=345;RO=12;RPL=5;RPP=3.25157;RPPR=9.52472;RPR=4;RUN=1;SAF=8;SAP=14.8328;SAR=1;SF=0;SRF=10;SRP=14.5915;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1909;dpsi_zscore=0.705;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-7.90109,0,-13.2755:22:12:9:217:345 0/1:-9.93853,0,-2.54416:29:12:16:302:257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 61040451 . TTC TTG,GTC 1786.59 . AB=0;ABP=0;AC=10,0;AF=1;AN=18;AO=123;CIGAR=2M1X;DP=1226;DPB=147;DPRA=0;EPP=6.98251;EPPR=9.52472;GTI=0;LEN=1;MEANALT=8;MQM=37.8374;MQMR=30;NS=1;NUMALT=1;ODDS=136.518;PAIRED=0.829268;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3829;QR=92;RO=3;RPL=16;RPP=149.205;RPPR=9.52472;RPR=107;RUN=1;SAF=79;SAP=24.6368;SAR=44;SF=1;SRF=3;SRP=9.52472;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=GATA5:NM_080473:exon6:c.981delG:p.S327fs\x3bGATA5:NM_080473:exon6:c.981delG:p.S327fs;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.A983C:p.K328T;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.086;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=2.125;MutationAssessor_pred=M;FATHMM_score=-4.98;FATHMM_pred=D;PROVEAN_score=-1.99;PROVEAN_pred=N;VEST3_score=0.361;CADD_raw=2.095;CADD_phred=16.82;DANN_score=0.991;fathmm-MKL_coding_score=0.106;fathmm-MKL_coding_pred=N;MetaSVM_score=0.719;MetaSVM_pred=D;MetaLR_score=0.940;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.66;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.138;phastCons7way_vertebrate=0.020;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=8.132;GDI_full_10282015=.;dpsi_max_tissue=-0.0614;dpsi_zscore=-0.314;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-311.514,-31.5565,0,.,.,.:147:3:123,.:3829,.:92:3,123 1/1:-390.318,-46.3586,0,.,.,.:163:0:154,.:4754,.:0:0,154 0/1:-113.784,0,-57.7277,.,.,.:93:34:52,.:1598,.:984:34,52 . . 0/1:-110.891,0,-107.466,.,.,.:123:55:59,.:1709,.:1636:55,59 1/1:-354.851,-41.2411,0,.,.,.:156:0:137,.:4202,.:0:0,137 0/1:-154.4,0,-130.413,.,.,.:151:68:78,.:2320,.:2034:68,78 . . 0/0:.,.,.,.,.,-250.789:114:104:.,8:.,139:3103:104,8 . . 0/0:.,.,.,.,.,-405.043:180:168:.,11:.,250:5052:168,11 . . . 0/1:-127.953,0,-40.3572,.,.,.:99:27:63,.:1896,.:798:27,63 . chr20 61040452 . TC TG,GC 1416.52 . AB=0.482558;ABP=3.46479;AC=2,0;AF=0.5;AN=6;AO=83;CIGAR=1M1X;DP=451;DPB=172;DPRA=0;EPP=6.17594;EPPR=7.5409;GTI=0;LEN=1;MEANALT=6;MQM=38.1325;MQMR=38.3333;NS=1;NUMALT=1;ODDS=319.315;PAIRED=0.86747;PAIREDR=0.839506;PAO=0;PQA=0;PQR=0;PRO=0;QA=2571;QR=2449;RO=81;RPL=10;RPP=106.849;RPPR=109.412;RPR=73;RUN=1;SAF=44;SAP=3.66436;SAR=39;SF=1;SRF=54;SRP=22.5536;SRR=27;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion;AAChange.refGene=GATA5:NM_080473:exon6:c.981delG:p.S327fs\x3bGATA5:NM_080473:exon6:c.981delG:p.S327fs;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.A982C:p.K328Q;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=2.125;MutationAssessor_pred=M;FATHMM_score=-4.94;FATHMM_pred=D;PROVEAN_score=-2.0;PROVEAN_pred=N;VEST3_score=0.218;CADD_raw=3.191;CADD_phred=22.7;DANN_score=0.981;fathmm-MKL_coding_score=0.191;fathmm-MKL_coding_pred=N;MetaSVM_score=0.742;MetaSVM_pred=D;MetaLR_score=0.942;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.81;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.049;phastCons7way_vertebrate=0.024;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=9.439;GDI_full_10282015=.;dpsi_max_tissue=-0.5306;dpsi_zscore=-1.121;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-164.48,0,-158.902,.,.,.:172:81:83,.:2571,.:2449:81,83 . . 0/0:.,.,.,.,.,-212.796:99:91:.,7:.,114:2670:91,7 0/1:-154.257,0,-199.564,.,.,.:180:95:78,.:2454,.:2954:95,78 . . . . . chr20 61040453 . C G,A 949.61 . AB=0;ABP=0;AC=107,0;AF=1;AN=158;AO=51;CIGAR=1X;DP=7056;DPB=51;DPRA=0;EPP=15.3153;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=27.5882;MQMR=0;NS=1;NUMALT=1;ODDS=73.6967;PAIRED=0.823529;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1438;QR=0;RO=0;RPL=2;RPP=97.0649;RPPR=0;RPR=49;RUN=1;SAF=34;SAP=15.3153;SAR=17;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.G981C:p.S327S;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=0.5395;esp6500siv2_ea=0.4841;esp6500siv2_all=0.5395;esp6500siv2_ea=0.4841;1000g2015aug_all=0.534545;avsnp147=rs6061243;Kaviar_AF=0.469942;Kaviar_AC=72654;Kaviar_AN=154602;ExAC_ALL=0.4965;ExAC_AFR=0.6694;ExAC_AMR=0.4595;ExAC_EAS=0.4920;ExAC_FIN=0.4878;ExAC_NFE=0.4912;ExAC_OTH=0.5235;ExAC_SAS=0.4408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7884;dpsi_zscore=-1.335;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4856;gnomAD_exome_AFR=0.6681;gnomAD_exome_AMR=0.4604;gnomAD_exome_ASJ=0.4207;gnomAD_exome_EAS=0.4802;gnomAD_exome_FIN=0.4670;gnomAD_exome_NFE=0.4921;gnomAD_exome_OTH=0.4783;gnomAD_exome_SAS=0.4363;gnomAD_genome_ALL=0.5419;gnomAD_genome_AFR=0.6670;gnomAD_genome_AMR=0.4617;gnomAD_genome_ASJ=0.4205;gnomAD_genome_EAS=0.4665;gnomAD_genome_FIN=0.4693;gnomAD_genome_NFE=0.5042;gnomAD_genome_OTH=0.4949;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.G981T:p.S327S;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8297;dpsi_zscore=-1.364;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 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C T 14416.93 . 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0/1:-1477.54,0,-1644.86:1577:788:763:22642:24754:788,763 . 0/1:-1463.8,0,-1581.01:1560:781:752:22537:23896:781,752 0/1:-1223.36,0,-1623.44:1433:762:644:19221:24050:762,644 0/1:-1790.2,0,-1971.4:1930:969:912:27649:29615:969,912 0/1:-1485.55,0,-1640.87:1585:782:770:23191:24421:782,770 1/1:-3812.59,-393.261,0:1578:25:1519:45552:825:25,1519 0/1:-1281.27,0,-1548.09:1413:736:659:19785:22943:736,659 0/1:-1086.07,0,-1401.8:1252:658:567:17036:20768:658,567 . chr20 61048450 . C G 9110.18 . AB=0.46618;ABP=17.9917;AC=1;AF=0.5;AN=2;AO=703;CIGAR=1X;DP=1508;DPB=1508;DPRA=0;EPP=24.2895;EPPR=87.5135;GTI=0;LEN=1;MEANALT=3;MQM=31.3585;MQMR=31.6337;NS=1;NUMALT=1;ODDS=2097.7;PAIRED=0.913229;PAIREDR=0.899743;PAO=0;PQA=0;PQR=0;PRO=0;QA=18639;QR=22342;RO=778;RPL=201;RPP=282.865;RPPR=218.717;RPR=502;RUN=1;SAF=425;SAP=69.7576;SAR=278;SF=0;SRF=446;SRP=39.2834;SRR=332;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs782776140;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=8.192e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.842e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0199;dpsi_zscore=-0.103;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.113e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.088e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-957.802,0,-1218.28:1508:778:703:18639:22342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 61048460 . A G 9555.98 . AB=0.498211;ABP=3.04138;AC=2;AF=0.5;AN=4;AO=557;CIGAR=1X;DP=2679;DPB=1118;DPRA=0;EPP=71.9711;EPPR=12.6229;GTI=0;LEN=1;MEANALT=3;MQM=31.2478;MQMR=32.728;NS=1;NUMALT=1;ODDS=1326.16;PAIRED=0.877917;PAIREDR=0.834728;PAO=0;PQA=0;PQR=0;PRO=0;QA=15295;QR=11863;RO=478;RPL=215;RPP=65.8894;RPPR=94.6119;RPR=342;RUN=1;SAF=291;SAP=5.44687;SAR=266;SF=0;SRF=264;SRP=14.3674;SRR=214;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.T698C:p.L233P;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0014;1000g2015aug_all=0.00219649;avsnp147=rs116164480;Kaviar_AF=0.001216;Kaviar_AC=188;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0010;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0033;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.039;SIFT_pred=D;Polyphen2_HDIV_score=0.723;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.412;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.03;MutationAssessor_pred=M;FATHMM_score=-6.4;FATHMM_pred=D;PROVEAN_score=-4.34;PROVEAN_pred=D;VEST3_score=0.377;CADD_raw=3.750;CADD_phred=23.3;DANN_score=0.998;fathmm-MKL_coding_score=0.934;fathmm-MKL_coding_pred=D;MetaSVM_score=0.906;MetaSVM_pred=D;MetaLR_score=0.959;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=4.65;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.193;phastCons7way_vertebrate=0.894;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=14.124;GDI_full_10282015=.;dpsi_max_tissue=-0.0619;dpsi_zscore=-0.316;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM149082#"Bicuspid_aortic_valve";gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0052;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.016e-05;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-834.45,0,-596.547:1118:478:557:15295:11863 . . . . . . . . . . . . . . . . . . 0/1:-1142.74,0,-956.148:1561:685:763:21209:17791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr20 61048549 . G A 14147.80 . AB=0.417484;ABP=69.307;AC=102;AF=0.5;AN=158;AO=468;CIGAR=1X;DP=110160;DPB=1121;DPRA=0;EPP=3.91972;EPPR=24.341;GTI=0;LEN=1;MEANALT=3;MQM=30.4594;MQMR=32.9371;NS=1;NUMALT=1;ODDS=1365.81;PAIRED=0.818376;PAIREDR=0.845238;PAO=0;PQA=0;PQR=0;PRO=0;QA=12794;QR=18026;RO=588;RPL=272;RPP=29.8104;RPPR=86.1024;RPR=196;RUN=1;SAF=195;SAP=31.2394;SAR=273;SF=0,1;SRF=253;SRP=27.8419;SRR=335;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.C609T:p.D203D;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=0.4308;esp6500siv2_ea=0.4344;esp6500siv2_all=0.4308;esp6500siv2_ea=0.4344;1000g2015aug_all=0.388179;avsnp147=rs41305803;Kaviar_AF=0.383902;Kaviar_AC=59352;Kaviar_AN=154602;ExAC_ALL=0.4429;ExAC_AFR=0.4618;ExAC_AMR=0.4787;ExAC_EAS=0.4120;ExAC_FIN=0.4961;ExAC_NFE=0.4679;ExAC_OTH=0.4612;ExAC_SAS=0.3045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0152;dpsi_zscore=0.104;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4062;gnomAD_exome_AFR=0.4235;gnomAD_exome_AMR=0.4314;gnomAD_exome_ASJ=0.4049;gnomAD_exome_EAS=0.3686;gnomAD_exome_FIN=0.4108;gnomAD_exome_NFE=0.4383;gnomAD_exome_OTH=0.4247;gnomAD_exome_SAS=0.2714;gnomAD_genome_ALL=0.4237;gnomAD_genome_AFR=0.4263;gnomAD_genome_AMR=0.4378;gnomAD_genome_ASJ=0.4205;gnomAD_genome_EAS=0.3586;gnomAD_genome_FIN=0.4086;gnomAD_genome_NFE=0.4330;gnomAD_genome_OTH=0.4104;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-608.947,0,-1036.91:1121:588:468:12794:18026 . 0/1:-758.047,0,-1079.57:1204:615:543:14877:19309 . 1/1:-2477.48,-314.899,0:1448:60:1274:34991:1293 0/1:-1208.51,0,-1696.6:1942:975:874:23211:30115 0/1:-716.729,0,-1008.28:1202:607:527:14079:18189 . 0/1:-828.593,0,-1173.87:1292:680:571:15793:20781 0/1:-845.034,0,-1306.56:1466:779:618:16997:23503 0/1:-817.879,0,-1012.14:1211:570:583:15871:17599 . 0/1:-764.72,0,-1285.51:1324:720:547:15230:22266 1/1:-2052.73,-293.297,0:1197:31:1069:28200:553 . . . 0/1:-1992.74,0,-2348.84:2939:1416:1367:37343:42874 0/1:-870.042,0,-1071.86:1356:664:616:16563:20064 0/1:-690.293,0,-898.568:1091:534:504:13687:16480 1/1:-2008,-261.416,0:1086:27:979:26894:559 . 0/1:-494.448,0,-686.497:817:408:371:10318:12309 0/1:-986.602,0,-1595.5:1655:872:723:19669:26764 . 1/1:-1815.89,-234.392,0:1105:49:971:26404:1068 . . . 0/1:-734.928,0,-1033.71:1147:593:514:13703:18147 1/1:-2044.05,-272.24,0:1140:32:1010:28066:689 . 1/1:-2596.93,-331.514,0:1465:55:1295:35483:1066 . 0/1:-838.801,0,-1176.46:1277:663:571:15697:20555 . 0/1:-1161.04,0,-1505.6:1795:894:816:22456:27048 1/1:-2197.32,-286.389,0:1231:35:1099:30083:702 . 0/1:-643.128,0,-1025.14:1071:565:453:12295:17358 0/1:-966.213,0,-1471.57:1620:844:703:19180:25845 0/1:-1077.74,0,-1277.41:1511:735:710:19695:22716 0/1:-1012.26,0,-1188.47:1435:688:671:18734:21160 0/1:-826.929,0,-1109.93:1272:641:577:15752:19921 1/1:-3005.91,-374.885,0:1667:60:1469:40605:1366 0/1:-951.354,0,-1254.61:1441:730:658:18120:22221 1/1:-2778.7,-370.881,0:1536:40:1366:37535:787 0/1:-512.022,0,-713.151:810:399:367:9850:12133 1/1:-1874.28,-225.885,0:1054:40:932:25816:882 . 1/1:-2739.63,-356.537,0:1510:44:1350:37024:902 0/1:-744.134,0,-1139.3:1343:693:583:15571:20930 0/1:-1005.84,0,-1505.73:1639:857:708:19529:26411 . 0/1:-640.641,0,-932.839:1080:552:472:12830:16808 1/1:-2016.44,-261.575,0:1075:35:972:27075:594 0/1:-1035.74,0,-1388.07:1620:813:739:20177:24613 . . . . 1/1:-2721.51,-355.125,0:1565:49:1380:38092:1109 . . . . 0/1:-422.152,0,-904.426:916:523:344:9311:15871 . 0/1:-785.012,0,-1250.12:1325:707:565:15492:21478 1/1:-2652.12,-360.313,0:1499:41:1337:36029:726 1/1:-2345.02,-324.486,0:1352:37:1189:31752:701 0/1:-1062.21,0,-1804.87:1856:993:766:20836:30193 0/1:-1017.82,0,-1283.08:1545:746:728:19436:22948 . 0/1:-819.176,0,-927.702:1153:548:553:15099:17115 0/1:-1016.66,0,-1372.78:1616:820:721:19917:25047 0/1:-874.141,0,-1320.56:1476:761:637:17023:23418 0/1:-962.056,0,-1386.13:1621:821:708:19018:25228 0/1:-539.943,0,-765.329:895:450:395:10499:13849 1/1:-1696.62,-218.358,0:922:25:834:23202:591 1/1:-2476.81,-303.874,0:1428:63:1250:33767:1316 . 0/1:-1168.26,0,-1353.79:1716:809:827:22148:24545 0/1:-654.025,0,-1228.85:1242:697:499:13355:21402 . 0/1:-854.211,0,-1150.46:1359:682:610:16324:20987 . 0/1:-1011.13,0,-1423.34:1696:853:751:19921:25987 0/1:-468.014,0,-853.69:851:458:357:9595:14468 0/1:-752.992,0,-989.898:1200:598:533:14446:17947 0/1:-1087.76,0,-1595.05:1792:901:799:21714:27785 1/1:-2396.19,-319.411,0:1402:54:1237:33569:1015 1/1:-2988.5,-380.825,0:1640:48:1472:40342:1121 0/1:-921.83,0,-1432.95:1607:845:697:19150:25745 . . . 1/1:-3536.37,-379.601,0:1395:14:1352:41812:413:14,1352 0/1:-1629.69,0,-1626.57:1586:773:795:24453:24522:773,795 0/1:-1043.43,0,-938.234:978:458:501:15614:14468:458,501 0/1:-1381.8,0,-1659.72:1506:785:702:21485:24711:785,702 . 0/1:-1584.05,0,-1471.43:1481:706:760:23707:22409:706,760 0/1:-1563.05,0,-1891.88:1696:880:793:24129:28292:880,793 0/1:-1443.22,0,-1445.12:1423:681:719:21959:21797:681,719 . . 0/1:-1268.52,0,-1330.99:1260:612:620:19076:19741:612,620 0/1:-1537.87,0,-1279.15:1393:622:749:23035:19907:622,749 0/1:-1345.28,0,-1445.66:1357:685:655:20278:21769:685,655 0/1:-1608.8,0,-1724.4:1656:834:795:24718:26482:834,795 1/1:-4052.21,-434.148,0:1610:17:1557:48142:476:17,1557 1/1:-4126.05,-427.684,0:1654:25:1592:49410:714:25,1592 1/1:-3342.21,-371.525,0:1315:7:1275:39546:208:7,1275 0/1:-1203.05,0,-1431.38:1277:670:590:18602:21316:670,590 0/1:-1651.49,0,-1854.67:1704:869:804:25300:27740:869,804 chr20 61050378 . GT GG 1990.73 . AB=0.590643;ABP=15.2137;AC=1;AF=0.5;AN=2;AO=101;CIGAR=1M1X;DP=171;DPB=172;DPRA=0;EPP=6.64375;EPPR=3.13803;GTI=0;LEN=1;MEANALT=3;MQM=39.6436;MQMR=40.1471;NS=1;NUMALT=1;ODDS=263.638;PAIRED=0.910891;PAIREDR=0.867647;PAO=1;PQA=29.5;PQR=29.5;PRO=1;QA=3072;QR=1995;RO=68;RPL=58;RPP=7.84774;RPPR=3.13803;RPR=43;RUN=1;SAF=36;SAP=21.0916;SAR=65;SF=1;SRF=28;SRP=7.60871;SRR=40;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=GATA5:NM_080473:exon2:c.199delA:p.T67fs;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-208.324,0,-121.315:171:68:101:3072:1995:68,101 . . . . . . . . chr20 61050379 . T G 346.66 . AB=0.625;ABP=5.18177;AC=21;AF=0.5;AN=60;AO=10;CIGAR=1X;DP=3491;DPB=16;DPRA=0;EPP=3.87889;EPPR=16.0391;GTI=0;LEN=1;MEANALT=1;MQM=28.9;MQMR=35.6667;NS=1;NUMALT=1;ODDS=9.21618;PAIRED=0.6;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=278;QR=216;RO=6;RPL=1;RPP=16.9077;RPPR=16.0391;RPR=9;RUN=1;SAF=7;SAP=6.48466;SAR=3;SF=0,1;SRF=6;SRP=16.0391;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.A199C:p.T67P;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.142572;avsnp147=rs6142775;Kaviar_AF=0.0343851;Kaviar_AC=5316;Kaviar_AN=154602;ExAC_ALL=0.2564;ExAC_AFR=0.2;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.2407;ExAC_OTH=.;ExAC_SAS=0.3571;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.851;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.948;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=-4.73;FATHMM_pred=D;PROVEAN_score=0.56;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=0.113;CADD_phred=3.744;DANN_score=0.440;fathmm-MKL_coding_score=0.231;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.686;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.8;phyloP7way_vertebrate=-0.071;phyloP20way_mammalian=-0.428;phastCons7way_vertebrate=0.035;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=6.326;GDI_full_10282015=.;dpsi_max_tissue=-0.0268;dpsi_zscore=-0.146;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1625;gnomAD_exome_AFR=0.0625;gnomAD_exome_AMR=0.225;gnomAD_exome_ASJ=0.0882;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.1567;gnomAD_exome_NFE=0.1733;gnomAD_exome_OTH=0.1471;gnomAD_exome_SAS=0.1667;gnomAD_genome_ALL=0.1524;gnomAD_genome_AFR=0.0988;gnomAD_genome_AMR=0.2141;gnomAD_genome_ASJ=0.16;gnomAD_genome_EAS=0.1210;gnomAD_genome_FIN=0.1588;gnomAD_genome_NFE=0.1805;gnomAD_genome_OTH=0.1738;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-15.6595,0,-12.334:16:6:10:278:216 . 0/1:-41.9704,0,-62.5204:90:48:37:1108:1309 . . . . . . . . . . . 0/1:-59.2293,0,-93.4063:132:70:60:1611:1950 . . . . . 0/1:-52.6904,0,-55.5074:83:40:39:1188:1142 0/1:-10.983,0,-1.85951:8:2:5:147:68 . . . 0/1:-12.8443,0,-7.96252:11:4:7:226:125 . . . . . . . . . 0/1:-16.8682,0,-12.921:20:10:10:307:295 . . . . . . . . 0/1:-12.8851,0,-8.97843:16:7:9:250:195 . . . . . 0/1:-32.478,0,-30.1875:48:24:22:671:681 . . . . . . . . . . . . . . . . . . . . . 0/1:-19.0934,0,-18.082:26:12:13:429:347 . . . . . 1/1:-66.4264,-8.76553,0:38:1:35:1115:36 . . . . . . . . . . . 0/1:-8.11916,0,-8.31114:12:5:7:248:158 . . 0/1:-116.265,0,-83.8605:107:48:58:1708:1365:48,58 0/0:0,-26.7841,-340.242:166:152:13:258:4214:152,13 0/1:-175.291,0,-180.314:176:91:84:2683:2805:91,84 . 0/0:0,-31.1301,-408.618:194:177:14:311:5039:177,14 0/1:-191.585,0,-151.931:188:88:99:2977:2387:88,99 0/0:0,-34.4812,-382.497:188:174:14:262:4925:174,14 0/1:-165.991,0,-133.795:167:80:87:2522:2161:80,87 0/0:0,-38.0529,-413.811:190:174:13:221:5067:174,13 0/1:-128.239,0,-148.86:149:81:68:2074:2243:81,68 0/1:-81.6065,0,-118.525:112:63:48:1444:1814:63,48 . 0/0:0,-17.623,-288.043:143:127:15:290:3648:127,15 0/0:0,-29.3573,-372.335:180:162:16:298:4637:162,16 0/0:0,-29.2495,-369.837:184:166:16:296:4679:166,16 0/0:0,-26.8316,-350.409:156:143:13:229:4306:143,13 0/0:0,-24.792,-323.257:165:149:16:311:4074:149,16 0/0:0,-36.4231,-390.506:180:168:11:194:4851:168,11 0/1:-276.412,0,-110.492:198:67:129:3884:1939:67,129 0/1:-104.222,0,-179.4:148:88:59:1758:2685:88,59 chr20 61050568 . T G 24.08 . AB=0.348485;ABP=16.1707;AC=1;AF=0.5;AN=2;AO=23;CIGAR=1X;DP=66;DPB=66;DPRA=0;EPP=30.2953;EPPR=26.3669;GTI=0;LEN=1;MEANALT=3;MQM=33.3043;MQMR=33.4878;NS=1;NUMALT=1;ODDS=5.54024;PAIRED=0.869565;PAIREDR=0.878049;PAO=0;PQA=0;PQR=0;PRO=0;QA=373;QR=1055;RO=41;RPL=18;RPP=18.9659;RPPR=67.8897;RPR=5;RUN=1;SAF=15;SAP=7.63648;SAR=8;SF=0;SRF=13;SRP=14.9269;SRR=28;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.A10C:p.S4R;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.972;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.548;MutationTaster_pred=N;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=-5.11;FATHMM_pred=D;PROVEAN_score=-2.12;PROVEAN_pred=N;VEST3_score=0.381;CADD_raw=5.299;CADD_phred=25.7;DANN_score=0.997;fathmm-MKL_coding_score=0.895;fathmm-MKL_coding_pred=D;MetaSVM_score=1.073;MetaSVM_pred=D;MetaLR_score=0.957;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=3.86;phyloP7way_vertebrate=0.970;phyloP20way_mammalian=0.977;phastCons7way_vertebrate=0.904;phastCons20way_mammalian=0.664;SiPhy_29way_logOdds=8.632;GDI_full_10282015=.;dpsi_max_tissue=-0.0211;dpsi_zscore=-0.111;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-13.8109,0,-62.9669:66:41:23:373:1055 . . . . . . . . . . . . . . . . . . . . . . chr21 35742799 . A G 5137.58 . AB=0.466767;ABP=9.36071;AC=3;AF=0.5;AN=6;AO=309;CIGAR=1X;DP=1993;DPB=662;DPRA=0;EPP=36.4678;EPPR=11.2458;GTI=0;LEN=1;MEANALT=3;MQM=38.7152;MQMR=39.2724;NS=1;NUMALT=1;ODDS=1155.4;PAIRED=0.983819;PAIREDR=0.965944;PAO=0;PQA=0;PQR=0;PRO=0;QA=8219;QR=9780;RO=323;RPL=161;RPP=4.19793;RPPR=6.56667;RPR=148;RUN=1;SAF=165;SAP=6.10939;SAR=144;SF=0;SRF=174;SRP=7.21207;SRR=149;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.A22G:p.T8A;cytoBand=21q22.11;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0069;1000g2015aug_all=0.00139776;avsnp147=rs2234916;Kaviar_AF=0.0040426;Kaviar_AC=625;Kaviar_AN=154602;ExAC_ALL=0.0038;ExAC_AFR=0.0012;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0053;ExAC_NFE=0.0054;ExAC_OTH=0.0055;ExAC_SAS=0.0009;CLNALLELEID=78511;CLNDN=Long_QT_syndrome_6|not_specified|Long_QT_syndrome,_drug-associated|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-3.29;FATHMM_pred=D;PROVEAN_score=-2.63;PROVEAN_pred=D;VEST3_score=0.824;CADD_raw=4.000;CADD_phred=23.6;DANN_score=0.995;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=0.702;MetaSVM_pred=D;MetaLR_score=0.766;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.53;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.868;phastCons20way_mammalian=0.968;SiPhy_29way_logOdds=15.319;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM003449#"Long_QT_interval_drug_induced_association_with";gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0060;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0040;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0064;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-513.169,0,-643.287:662:323:309:8219:9780 . . . . . . . . . . . . . . . . . . 0/1:-609.533,0,-724.064:757:380:349:9621:11147 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-453.945,0,-537.944:574:276:275:7270:8140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr21 35742806 . C T 3638.12 . AB=0.463801;ABP=8.04104;AC=1;AF=0.5;AN=2;AO=205;CIGAR=1X;DP=442;DPB=442;DPRA=0;EPP=13.1897;EPPR=4.877;GTI=0;LEN=1;MEANALT=3;MQM=39.3073;MQMR=40.2105;NS=1;NUMALT=1;ODDS=837.708;PAIRED=0.956098;PAIREDR=0.969298;PAO=0;PQA=0;PQR=0;PRO=0;QA=5947;QR=6784;RO=228;RPL=120;RPP=15.9862;RPPR=3.35316;RPR=85;RUN=1;SAF=121;SAP=17.5115;SAR=84;SF=0;SRF=144;SRP=37.2967;SRR=84;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.C29T:p.T10M;cytoBand=21q22.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199473648;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=9.789e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=78515;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_6|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C3150953,OMIM:613693|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.952;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.557;Polyphen2_HVAR_pred=P;LRT_score=0.047;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-3.0;FATHMM_pred=D;PROVEAN_score=-1.16;PROVEAN_pred=N;VEST3_score=0.782;CADD_raw=2.699;CADD_phred=20.8;DANN_score=0.997;fathmm-MKL_coding_score=0.216;fathmm-MKL_coding_pred=N;MetaSVM_score=0.022;MetaSVM_pred=D;MetaLR_score=0.672;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.65;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.871;phastCons20way_mammalian=0.794;SiPhy_29way_logOdds=13.752;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Long_QT_syndrome#15840476;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM055291#"Long_QT_syndrome";gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0.0038;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=9.687e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-375.022,0,-453.044:442:228:205:5947:6784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr21 35742947 . T C 8027.49 . AB=0.504158;ABP=3.15476;AC=4;AF=0.5;AN=8;AO=485;CIGAR=1X;DP=3476;DPB=962;DPRA=0;EPP=3.76696;EPPR=10.1747;GTI=0;LEN=1;MEANALT=3;MQM=38.1608;MQMR=38.8438;NS=1;NUMALT=1;ODDS=2097.73;PAIRED=0.964948;PAIREDR=0.969631;PAO=0;PQA=0;PQR=0;PRO=0;QA=14721;QR=14494;RO=461;RPL=129;RPP=233.719;RPPR=96.6568;RPR=356;RUN=1;SAF=242;SAP=3.01478;SAR=243;SF=0,1;SRF=220;SRP=5.08757;SRR=241;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.T170C:p.I57T;cytoBand=21q22.11;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000798722;avsnp147=rs74315448;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0011;ExAC_OTH=0.0055;ExAC_SAS=0.0009;CLNALLELEID=21093;CLNDN=Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.918;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=A;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-3.06;FATHMM_pred=D;PROVEAN_score=-3.39;PROVEAN_pred=D;VEST3_score=0.982;CADD_raw=5.453;CADD_phred=26.1;DANN_score=0.999;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=0.631;MetaSVM_pred=D;MetaLR_score=0.747;MetaLR_pred=D;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=15.564;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Cardiac_arrhythmia#10219239;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM993509#"Cardiac_arrhythmia";gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-943.096,0,-934.419:962:461:485:14721:14494 . . . . . . 0/1:-745.242,0,-722.379:757:360:384:11573:11448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-777.737,0,-896.88:882:451:411:12377:13826 . . . . . . . . . . . . . . . . . . 0/1:-865.683,0,-989.457:875:455:412:13005:14632:455,412 . . . . . . . . . chr21 35743006 . C T 9860.98 . AB=0.475512;ABP=8.85955;AC=1;AF=0.5;AN=2;AO=534;CIGAR=1X;DP=1123;DPB=1123;DPRA=0;EPP=27.7504;EPPR=15.9164;GTI=0;LEN=1;MEANALT=3;MQM=38.3933;MQMR=37.6961;NS=1;NUMALT=1;ODDS=2270.57;PAIRED=0.947566;PAIREDR=0.943463;PAO=0;PQA=0;PQR=0;PRO=0;QA=15871;QR=17482;RO=566;RPL=285;RPP=8.28039;RPPR=103.696;RPR=249;RUN=1;SAF=297;SAP=17.6494;SAR=237;SF=0;SRF=288;SRP=3.39395;SRR=278;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.C229T:p.R77W;cytoBand=21q22.11;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs141423405;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=7.415e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=78510;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.727;Polyphen2_HVAR_pred=P;LRT_score=0.430;LRT_pred=N;MutationTaster_score=0.880;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-2.99;FATHMM_pred=D;PROVEAN_score=-2.52;PROVEAN_pred=D;VEST3_score=0.745;CADD_raw=7.201;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.461;fathmm-MKL_coding_pred=N;MetaSVM_score=0.327;MetaSVM_pred=D;MetaLR_score=0.770;MetaLR_pred=D;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.935;phastCons20way_mammalian=0.696;SiPhy_29way_logOdds=14.227;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Long_QT_syndrome#16922724;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM064063#"Long_QT_syndrome";gnomAD_exome_ALL=7.716e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-998.774,0,-1123.52:1123:566:534:15871:17482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr21 35743116 . C T 6941.28 . AB=0.477366;ABP=6.2541;AC=1;AF=0.5;AN=2;AO=348;CIGAR=1X;DP=729;DPB=729;DPRA=0;EPP=17.3869;EPPR=23.3847;GTI=0;LEN=1;MEANALT=3;MQM=39.4023;MQMR=40.4286;NS=1;NUMALT=1;ODDS=1598.29;PAIRED=0.939655;PAIREDR=0.967655;PAO=0;PQA=0;PQR=0;PRO=0;QA=10842;QR=11761;RO=371;RPL=209;RPP=33.5856;RPPR=129.488;RPR=139;RUN=1;SAF=161;SAP=7.22845;SAR=187;SF=1;SRF=169;SRP=9.38424;SRR=202;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.C339T:p.N113N;cytoBand=21q22.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=471142;CLNDN=Long_QT_syndrome_6;CLNDISDB=MedGen:C3150953,OMIM:613693;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.218e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-706.85,0,-796.76:729:371:348:10842:11761:371,348 . . . . . . . . . . . . . . . chr21 35821817 . TCACT TCACC,GCACT 3100.11 . AB=0;ABP=0;AC=4,0;AF=0;AN=32;AO=45;CIGAR=1X;DP=12232;DPB=832;DPRA=0;EPP=16.956;EPPR=12.3515;GTI=0;LEN=1;MEANALT=3;MQM=37.0222;MQMR=40.0793;NS=1;NUMALT=1;ODDS=804.775;PAIRED=0.977778;PAIREDR=0.968031;PAO=0;PQA=0;PQR=0;PRO=0;QA=1058;QR=23000;RO=782;RPL=19;RPP=5.37479;RPPR=19.0492;RPR=26;RUN=1;SAF=5;SAP=62.1226;SAR=40;SF=1;SRF=315;SRP=67.1659;SRR=467;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic\x3bexonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=KCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.A116C:p.D39A,KCNE1:NM_001270404:exon2:c.A116C:p.D39A,KCNE1:NM_001127668:exon3:c.A116C:p.D39A,KCNE1:NM_001127669:exon3:c.A116C:p.D39A,KCNE1:NM_001270402:exon3:c.A116C:p.D39A,KCNE1:NM_001270403:exon3:c.A116C:p.D39A,KCNE1:NM_001270405:exon3:c.A116C:p.D39A,KCNE1:NM_000219:exon4:c.A116C:p.D39A;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.054;Polyphen2_HVAR_pred=B;LRT_score=0.020;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.595;MutationAssessor_pred=M;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.588;CADD_raw=0.463;CADD_phred=7.142;DANN_score=0.939;fathmm-MKL_coding_score=0.138;fathmm-MKL_coding_pred=N;MetaSVM_score=0.083;MetaSVM_pred=D;MetaLR_score=0.764;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.53;phyloP7way_vertebrate=-0.013;phyloP20way_mammalian=-0.026;phastCons7way_vertebrate=0.058;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=4.547;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-1887.5:832:782:.,45:.,1058:23000:782,45 . 1/1:-1222.69,-134.92,0,.,.,.:541:4:457,.:14429,.:132:4,457 0/0:.,.,.,.,.,-1561.31:727:669:.,55:.,1197:19401:669,55 0/0:.,.,.,.,.,-2096.58:936:870:.,61:.,1343:25668:870,61 0/0:.,.,.,.,.,-1715.57:791:742:.,45:.,1228:21453:742,45 . 0/0:.,.,.,.,.,-1555.22:709:655:.,49:.,869:18965:655,49 0/0:.,.,.,.,.,-1880.51:866:808:.,54:.,1415:23465:808,54 0/0:.,.,.,.,.,-1901.34:845:784:.,53:.,1184:23239:784,53 0/0:.,.,.,.,.,-1577.68:726:672:.,46:.,1196:19516:672,46 1/1:-1586.34,-188.766,0,.,.,.:686:5:592,.:18628,.:119:5,592 0/0:.,.,.,.,.,-1645.14:721:677:.,41:.,948:20046:677,41 . 0/0:.,.,.,.,.,-1713.27:765:716:.,44:.,900:20920:716,44 0/0:.,.,.,.,.,-1892.53:884:823:.,57:.,1250:23553:823,57 0/0:.,.,.,.,.,-1460.92:688:642:.,41:.,879:18051:642,41 0/0:.,.,.,.,.,-1508.95:669:626:.,38:.,805:18392:626,38 0/0:.,.,.,.,.,-1899.19:846:788:.,55:.,1239:23416:788,55 chr21 35821818 . CACT CACC 18961.65 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=732;CIGAR=3M1X;DP=1510;DPB=799.25;DPRA=0;EPP=5.68014;EPPR=3.44459;GTI=0;LEN=1;MEANALT=16;MQM=39.6052;MQMR=41.6;NS=1;NUMALT=1;ODDS=998.649;PAIRED=0.971311;PAIREDR=1;PAO=41;PQA=700.5;PQR=28.5;PRO=1;QA=23177;QR=165;RO=5;RPL=343;RPP=9.2874;RPPR=3.44459;RPR=389;RUN=1;SAF=252;SAP=157.22;SAR=480;SF=1;SRF=2;SRP=3.44459;SRR=3;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic\x3bexonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=KCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2019.48,-220.585,0:788:5:732:23177:165:5,732 . . . . 1/1:-1812.86,-201.859,0:722:4:670:20844:128:4,670 . . . . . . . . chr21 35821819 . ACT ACC 20916.10 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=788;CIGAR=2M1X;DP=866;DPB=874;DPRA=0;EPP=7.87131;EPPR=3.17734;GTI=0;LEN=1;MEANALT=10;MQM=39.4061;MQMR=41.5385;NS=1;NUMALT=1;ODDS=993.558;PAIRED=0.963198;PAIREDR=1;PAO=24;PQA=374;PQR=0;PRO=0;QA=24861;QR=396;RO=13;RPL=349;RPP=25.3313;RPPR=4.51363;RPR=439;RUN=1;SAF=276;SAP=156.49;SAR=512;SF=1;SRF=3;SRP=11.1951;SRR=10;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic\x3bexonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=KCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2111.6,-213.342,0:866:13:788:24861:396:13,788 . . . . . . . . . . chr21 35821820 . CT CC 21600.20 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=857;CIGAR=1M1X;DP=1731;DPB=895.5;DPRA=0;EPP=19.6346;EPPR=8.59409;GTI=0;LEN=1;MEANALT=7;MQM=39.5893;MQMR=35.5;NS=1;NUMALT=1;ODDS=1069.62;PAIRED=0.985998;PAIREDR=0.928571;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=26526;QR=457;RO=14;RPL=371;RPP=36.5199;RPPR=3.63072;RPR=486;RUN=1;SAF=333;SAP=95.4461;SAR=524;SF=1;SRF=4;SRP=8.59409;SRR=10;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic\x3bexonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=KCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs\x3bKCNE1:NM_001127670:exon2:c.112delA:p.S38fs,KCNE1:NM_001270404:exon2:c.112delA:p.S38fs,KCNE1:NM_001127668:exon3:c.112delA:p.S38fs,KCNE1:NM_001127669:exon3:c.112delA:p.S38fs,KCNE1:NM_001270402:exon3:c.112delA:p.S38fs,KCNE1:NM_001270403:exon3:c.112delA:p.S38fs,KCNE1:NM_001270405:exon3:c.112delA:p.S38fs,KCNE1:NM_000219:exon4:c.112delA:p.S38fs;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2232.3,-227.341,0:895:14:857:26526:457:14,857 . . . . . . 1/1:-2119.68,-212.552,0:836:12:805:25151:377:12,805 . . . . . chr21 35821821 . T C 11136.01 . AB=0;ABP=0;AC=122;AF=1;AN=180;AO=1011;CIGAR=1X;DP=79247;DPB=1057;DPRA=0;EPP=50.6946;EPPR=7.94546;GTI=0;LEN=1;MEANALT=3;MQM=33.0287;MQMR=34.2727;NS=1;NUMALT=1;ODDS=1322.18;PAIRED=0.92186;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=28312;QR=238;RO=11;RPL=448;RPP=31.4156;RPPR=3.20771;RPR=563;RUN=1;SAF=391;SAP=115.645;SAR=620;SF=0,1;SRF=5;SRP=3.20771;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.A112G:p.S38G,KCNE1:NM_001270404:exon2:c.A112G:p.S38G,KCNE1:NM_001127668:exon3:c.A112G:p.S38G,KCNE1:NM_001127669:exon3:c.A112G:p.S38G,KCNE1:NM_001270402:exon3:c.A112G:p.S38G,KCNE1:NM_001270403:exon3:c.A112G:p.S38G,KCNE1:NM_001270405:exon3:c.A112G:p.S38G,KCNE1:NM_000219:exon4:c.A112G:p.S38G;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=0.6619;esp6500siv2_ea=0.6369;esp6500siv2_all=0.6619;esp6500siv2_ea=0.6369;1000g2015aug_all=0.673922;avsnp147=rs1805127;Kaviar_AF=0.640548;Kaviar_AC=99030;Kaviar_AN=154602;ExAC_ALL=0.6477;ExAC_AFR=0.7107;ExAC_AMR=0.5946;ExAC_EAS=0.7218;ExAC_FIN=0.5624;ExAC_NFE=0.6443;ExAC_OTH=0.6427;ExAC_SAS=0.6549;CLNALLELEID=136399;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.401;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.774;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.11;MutationAssessor_pred=N;FATHMM_score=-3.09;FATHMM_pred=D;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.236;CADD_raw=-1.420;CADD_phred=0.003;DANN_score=0.891;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.957;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.18;phyloP7way_vertebrate=-0.203;phyloP20way_mammalian=-0.954;phastCons7way_vertebrate=0.009;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.877;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM062783#"Noise-induced_hearing_loss_susceptibility_to_association";gnomAD_exome_ALL=0.6418;gnomAD_exome_AFR=0.7117;gnomAD_exome_AMR=0.5917;gnomAD_exome_ASJ=0.6991;gnomAD_exome_EAS=0.7109;gnomAD_exome_FIN=0.5716;gnomAD_exome_NFE=0.6420;gnomAD_exome_OTH=0.6541;gnomAD_exome_SAS=0.6524;gnomAD_genome_ALL=0.6592;gnomAD_genome_AFR=0.7092;gnomAD_genome_AMR=0.5622;gnomAD_genome_ASJ=0.7133;gnomAD_genome_EAS=0.7323;gnomAD_genome_FIN=0.5809;gnomAD_genome_NFE=0.6458;gnomAD_genome_OTH=0.6429;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2157.4,-287.657,0:1057:11:1011:28312:238 0/1:-647.19,0,-548.51:752:347:385:10906:9926 0/1:-515.605,0,-427.985:613:273:317:8947:7793 1/1:-1859.03,-240.626,0:880:12:854:24122:292 . 1/1:-1603.27,-201.028,0:765:11:730:20852:299 0/1:-806.985,0,-780.147:1025:480:509:13981:13747 0/1:-678.745,0,-576.519:797:366:410:11687:10361 1/1:-2046.42,-275.011,0:979:6:952:26677:177 0/1:-547.829,0,-616.677:762:382:354:9914:10878 1/1:-1821.38,-243.552,0:853:4:828:23243:78 0/1:-683.382,0,-531.016:781:334:432:11766:9585 0/1:-518.02,0,-559.394:730:340:357:9642:9887 0/1:-573.595,0,-486.046:674:305:348:10038:8732 0/1:-1013.36,0,-968.226:1231:587:608:17648:16755 1/1:-1312.39,-172.269,0:628:8:602:17030:200 0/1:-1518.44,0,-1489.96:1883:898:926:26221:25780 0/1:-647.103,0,-670.85:840:402:403:11380:11563 0/1:-532.032,0,-482.165:675:312:339:9378:9119 1/1:-1434.08,-189.791,0:705:11:679:19126:223 0/1:-697.682,0,-755.629:931:458:443:12464:13061 . . 1/1:-2087.72,-276.013,0:1016:11:978:26761:277 . 0/1:-685.919,0,-764.356:919:456:435:12212:13151 1/1:-2017.56,-258.962,0:945:10:912:25937:251 0/1:-524.405,0,-443.915:689:309:359:9831:8746 0/1:-512.969,0,-559.603:661:325:314:8870:9301 0/1:-534.191,0,-582.357:732:354:356:9855:10137 . 0/1:-782.158,0,-764.489:976:462:476:13501:13193 0/1:-784.588,0,-821.148:1016:489:479:13594:13871 0/1:-781.685,0,-643.197:900:401:475:13329:11717 0/1:-829.388,0,-729.413:1022:460:525:14575:13027 0/1:-924.508,0,-970.551:1198:568:581:16064:16448 0/1:-685.636,0,-521.448:763:342:397:11473:9802 0/1:-739.027,0,-653.17:887:399:454:12594:11705 0/1:-461.432,0,-564.129:634:317:288:8227:9357 1/1:-2075.23,-274.989,0:979:6:954:26725:159 0/1:-684.773,0,-637.366:847:387:429:12178:10952 1/1:-1968.2,-252.675,0:927:11:891:25161:220 . 1/1:-2207.52,-293.604,0:1051:9:1016:28573:215 . 1/1:-1918.01,-261.102,0:937:9:904:25040:184 0/1:-457.706,0,-440.113:561:258:285:7948:7435 0/1:-625.949,0,-511.761:733:320:392:10615:9056 1/1:-2341.32,-301.012,0:1118:13:1081:30086:339 0/1:-890.567,0,-806.996:1087:495:545:15549:14285 . . 1/1:-2318.59,-307.091,0:1114:10:1075:30050:263 1/1:-1378.63,-186.121,0:658:3:633:17859:60 . 1/1:-2146.13,-287.131,0:1010:6:978:27705:150 0/1:-382.82,0,-372.217:536:259:259:7218:7245 . 1/1:-2008.93,-250.814,0:983:15:940:26430:415 0/1:-420.119,0,-370.309:546:244:278:7751:7013 0/1:-799.076,0,-870.911:1080:527:511:14354:15064 . 1/1:-1243.65,-176.777,0:636:6:611:16354:124 0/1:-879.869,0,-927.44:1129:545:542:15454:15840 0/1:-848.067,0,-832.55:1073:518:525:15054:14539 . 1/1:-1926.28,-248.874,0:917:10:886:25223:260 0/1:-610.424,0,-696.623:862:430:405:11283:12119 0/1:-812.06,0,-649.038:976:437:497:13919:11896 1/1:-1971.94,-246.365,0:935:14:890:25127:333 0/1:-941.383,0,-934.313:1174:559:575:16206:15991 1/1:-2372.49,-285.726,0:1151:26:1087:30935:680 0/1:-361.256,0,-425.145:587:283:272:7084:8075 1/1:-1297.69,-172.813,0:648:7:615:17197:164 1/1:-2242.63,-313.976,0:1087:4:1057:29046:96 0/1:-965.208,0,-742.163:1101:486:569:16097:13619 0/1:-793.834,0,-729.453:965:448:486:13950:12516 0/1:-533.922,0,-424.767:631:274:332:9322:7726 0/1:-453.848,0,-426.783:548:255:272:7651:7414 1/1:-2075.25,-272.365,0:966:6:941:26606:153 1/1:-1960.5,-261.819,0:977:13:940:26126:339 1/1:-2276.1,-305.846,0:1071:5:1048:29091:150 1/1:-1692.49,-222.131,0:799:7:772:21870:195 1/1:-1593.39,-211.43,0:823:16:788:21391:418 . 0/1:-440.769,0,-531.141:630:326:282:8090:8972 0/1:-680.417,0,-670.608:873:415:433:11707:11887 1/1:-1033.74,-135.174,0:496:5:480:13416:123 1/1:-1726.19,-234.945,0:856:6:819:22791:168 0/1:-1029.24,0,-806.449:1195:526:628:17864:14736 . 1/1:-2384.15,-301.061,0:1114:13:1075:30608:328 0/1:-753.259,0,-768.751:1012:483:501:13741:13508 . . 0/1:-950.378,0,-997.924:961:480:461:14171:15078:480,461 0/1:-961.746,0,-767.428:849:395:451:14163:11912:395,451 0/1:-1007.08,0,-892.565:919:427:486:15060:13499:427,486 . 0/1:-759.972,0,-692.53:739:340:384:11469:10547:340,384 0/1:-893.185,0,-1029.81:965:500:447:13712:15331:500,447 . . . . 0/1:-881.797,0,-798.209:854:403:439:13171:12010:403,439 . . 0/1:-861.004,0,-648.999:743:333:400:12577:10221:333,400 . 0/1:-805.838,0,-711.914:782:367:399:12210:11067:367,399 0/1:-971.994,0,-803.841:889:407:470:14542:12478:407,470 0/1:-624.938,0,-743.535:690:365:318:9826:11149:365,318 0/1:-668.411,0,-681.495:674:332:334:10234:10302:332,334 0/1:-850.987,0,-875.566:864:423:426:12954:13170:423,426 chr22 19865869 . T C 12584.65 . AB=0.464602;ABP=20.2283;AC=2;AF=0.5;AN=4;AO=735;CIGAR=1X;DP=3164;DPB=1582;DPRA=0;EPP=27.4756;EPPR=11.2337;GTI=0;LEN=1;MEANALT=3;MQM=34.1986;MQMR=35.5;NS=1;NUMALT=1;ODDS=2810.91;PAIRED=0.892517;PAIREDR=0.876623;PAO=0;PQA=0;PQR=0;PRO=0;QA=21487;QR=22053;RO=770;RPL=322;RPP=27.4756;RPPR=149.61;RPR=413;RUN=1;SAF=402;SAP=17.0761;SAR=333;SF=0,1;SRF=429;SRP=24.8491;SRR=341;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0793;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0793;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0848642;avsnp147=rs113605285;Kaviar_AF=0.0228393;Kaviar_AC=3531;Kaviar_AN=154602;ExAC_ALL=0.0237;ExAC_AFR=0.2685;ExAC_AMR=0.0134;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0100;ExAC_SAS=0.0002;CLNALLELEID=378690;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0522;dpsi_zscore=1.551;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.2650;gnomAD_exome_AMR=0.0154;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0750;gnomAD_genome_AFR=0.2599;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1235.53,0,-1317.43:1582:770:735:21487:22053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1461.06,0,-1626.89:1582:831:724:22490:24516:831,724 . . . . . . . . . . . . . chr22 19867771 . C T 9793.29 . AB=0.404476;ABP=102.16;AC=48;AF=0.5;AN=84;AO=506;CIGAR=1X;DP=55962;DPB=1251;DPRA=0;EPP=56.8422;EPPR=31.3377;GTI=0;LEN=1;MEANALT=3;MQM=32.6522;MQMR=32.2805;NS=1;NUMALT=1;ODDS=1462.37;PAIRED=0.869565;PAIREDR=0.808446;PAO=0;PQA=0;PQR=0;PRO=0;QA=12987;QR=19747;RO=663;RPL=258;RPP=3.43944;RPPR=3.95684;RPR=248;RUN=1;SAF=281;SAP=16.4683;SAR=225;SF=0,1;SRF=387;SRP=43.3643;SRR=276;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2919;esp6500siv2_ea=0.1615;esp6500siv2_all=0.2919;esp6500siv2_ea=0.1615;1000g2015aug_all=0.269169;avsnp147=rs1139795;Kaviar_AF=0.180043;Kaviar_AC=27835;Kaviar_AN=154602;ExAC_ALL=0.1853;ExAC_AFR=0.5661;ExAC_AMR=0.1439;ExAC_EAS=0.0323;ExAC_FIN=0.0962;ExAC_NFE=0.1620;ExAC_OTH=0.1852;ExAC_SAS=0.1949;CLNALLELEID=259119;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.0958;dpsi_zscore=-1.931;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1751;gnomAD_exome_AFR=0.5660;gnomAD_exome_AMR=0.1472;gnomAD_exome_ASJ=0.2005;gnomAD_exome_EAS=0.0292;gnomAD_exome_FIN=0.0905;gnomAD_exome_NFE=0.1619;gnomAD_exome_OTH=0.1838;gnomAD_exome_SAS=0.1922;gnomAD_genome_ALL=0.2499;gnomAD_genome_AFR=0.5430;gnomAD_genome_AMR=0.1527;gnomAD_genome_ASJ=0.2384;gnomAD_genome_EAS=0.0241;gnomAD_genome_FIN=0.0948;gnomAD_genome_NFE=0.1510;gnomAD_genome_OTH=0.1687;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-654.475,0,-1110.4:1251:663:506:12987:19747 . . . . . . . 0/1:-664.794,0,-1004.11:1206:622:509:13332:18317 . 0/1:-674.053,0,-1100.01:1253:664:516:13342:19063 . . 0/1:-1107.53,0,-1676.09:1961:999:847:22041:29707 . . . . 0/1:-469.248,0,-966.985:1028:579:392:9957:17062 . . . . . . 1/1:-1837.78,-233.132,0:1116:34:953:24612:838 . . . . 0/1:-984.558,0,-1202.76:1541:734:711:18249:21633 . . 0/1:-777.183,0,-1330.99:1502:766:617:15840:22982 . . 0/1:-780.959,0,-1099.64:1426:695:630:15954:20367 . 0/1:-838.231,0,-1242.4:1474:737:636:16357:21804 0/1:-698.556,0,-1356.98:1414:778:551:14181:23030 . 1/1:-1954.44,-259.111,0:1164:25:1013:26378:682 . . . 0/1:-499.287,0,-759.167:843:429:347:9252:12902 0/1:-617.658,0,-801.128:1009:492:452:11564:14605 . 0/1:-844.473,0,-1315.47:1569:792:671:16809:23396 . 1/1:-2485.6,-333.41,0:1458:41:1284:33513:914 . 0/1:-490.041,0,-766.64:974:488:420:10379:14523 . . . . . 0/1:-489.101,0,-713.44:899:444:398:10053:13296 0/1:-997.99,0,-1452.86:1707:874:727:19142:25848 . . 0/1:-917.513,0,-1381.82:1599:820:687:17483:24337 . . . 0/1:-762.952,0,-1217.05:1417:721:589:15210:21254 . . 1/1:-3042.23,-404.654,0:1759:44:1532:40044:1016 0/1:-899.734,0,-1292:1490:752:640:17218:22231 . . 0/1:-920.09,0,-1448.54:1740:885:726:18388:25732 . . . 1/1:-1376.11,-184.482,0:819:24:722:18854:613 . 0/1:-827.158,0,-1348.81:1571:814:638:16336:23872 . 0/1:-631.187,0,-1024.7:1196:613:492:12655:18298 . 0/1:-673.654,0,-1302.75:1401:754:545:13941:22369 . . . . 0/1:-846.12,0,-1562.5:1676:907:656:17110:27119 0/1:-711.716,0,-1094.97:1326:652:563:14287:19084 . . 0/1:-852.11,0,-1354.59:1632:815:683:17353:23975 . . . 0/1:-1132.31,0,-1399.76:1408:697:659:17918:21180:697,659 . . 0/1:-1067.68,0,-1507.95:1409:736:620:17229:22454:736,620 0/1:-881.085,0,-1269.5:1160:616:510:14105:19049:616,510 . . . 0/1:-1030.86,0,-1542.08:1395:741:602:16840:22760:741,602 0/1:-777.001,0,-1110.92:1007:524:449:12599:16361:524,449 0/1:-869.816,0,-1216.87:1115:575:493:13942:17814:575,493 0/1:-856.27,0,-1121.27:1078:552:489:13663:16920:552,489 0/1:-918.068,0,-1542.05:1366:742:573:15447:22579:742,573 0/1:-953.344,0,-1350.16:1249:660:547:15280:20038:660,547 1/1:-2664.78,-315.059,0:1237:18:1147:31731:438:18,1147 0/1:-790.456,0,-1242.5:1117:597:467:12944:18183:597,467 . . chr22 19868177 . C T 10826.39 . AB=0.407426;ABP=149.354;AC=2;AF=0.5;AN=4;AO=801;CIGAR=1X;DP=4172;DPB=1966;DPRA=0;EPP=8.99879;EPPR=68.0956;GTI=0;LEN=1;MEANALT=3;MQM=32.3471;MQMR=34.3227;NS=1;NUMALT=1;ODDS=2183.62;PAIRED=0.900125;PAIREDR=0.901777;PAO=0;PQA=0;PQR=0;PRO=0;QA=20232;QR=32287;RO=1069;RPL=278;RPP=165.735;RPPR=105.845;RPR=523;RUN=1;SAF=423;SAP=8.49998;SAR=378;SF=0,1;SRF=545;SRP=3.90611;SRR=524;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0057;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0057;1000g2015aug_all=0.00179712;avsnp147=rs192869629;Kaviar_AF=0.0067722;Kaviar_AC=1047;Kaviar_AN=154602;ExAC_ALL=0.0077;ExAC_AFR=0.0007;ExAC_AMR=0.0017;ExAC_EAS=0.0001;ExAC_FIN=0.0176;ExAC_NFE=0.0116;ExAC_OTH=0.0091;ExAC_SAS=0.0005;CLNALLELEID=259123;CLNDN=Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.367;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.15;MutationAssessor_pred=M;FATHMM_score=0.1;FATHMM_pred=T;PROVEAN_score=-3.01;PROVEAN_pred=D;VEST3_score=0.311;CADD_raw=2.609;CADD_phred=20.3;DANN_score=0.968;fathmm-MKL_coding_score=0.701;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.941;MetaSVM_pred=T;MetaLR_score=0.116;MetaLR_pred=T;integrated_fitCons_score=0.733;integrated_confidence_value=0;GERP++_RS=4.35;phyloP7way_vertebrate=0.598;phyloP20way_mammalian=0.931;phastCons7way_vertebrate=0.082;phastCons20way_mammalian=0.015;SiPhy_29way_logOdds=8.752;GDI_full_10282015=.;dpsi_max_tissue=-0.2083;dpsi_zscore=-0.703;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0077;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0395;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0185;gnomAD_exome_NFE=0.0085;gnomAD_exome_OTH=0.0079;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0111;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0212;gnomAD_genome_NFE=0.0159;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-982.744,0,-1952.08:1966:1069:801:20232:32287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1765.97,0,-2506.37:2206:1191:964:28245:37432:1191,964 . . . . . . . . . chr22 19868218 . A G 25524.84 . AB=0.525097;ABP=10.0948;AC=167;AF=0.5;AN=214;AO=680;CIGAR=1X;DP=187587;DPB=1295;DPRA=0;EPP=7.62149;EPPR=3.07147;GTI=0;LEN=1;MEANALT=3;MQM=33.175;MQMR=34.3204;NS=1;NUMALT=1;ODDS=2002.93;PAIRED=0.877941;PAIREDR=0.81162;PAO=0;PQA=0;PQR=0;PRO=0;QA=18799;QR=16536;RO=568;RPL=489;RPP=286.592;RPPR=201.746;RPR=191;RUN=1;SAF=320;SAP=8.11965;SAR=360;SF=0,1;SRF=272;SRP=5.21236;SRR=296;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.7961;esp6500siv2_ea=0.7377;esp6500siv2_all=0.7961;esp6500siv2_ea=0.7377;1000g2015aug_all=0.718251;avsnp147=rs1139793;Kaviar_AF=0.69829;Kaviar_AC=107957;Kaviar_AN=154602;ExAC_ALL=0.7012;ExAC_AFR=0.9150;ExAC_AMR=0.5511;ExAC_EAS=0.6030;ExAC_FIN=0.6915;ExAC_NFE=0.7400;ExAC_OTH=0.6950;ExAC_SAS=0.5808;CLNALLELEID=259118;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.271;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=-1.14;MutationAssessor_pred=N;FATHMM_score=0.55;FATHMM_pred=T;PROVEAN_score=-1.35;PROVEAN_pred=N;VEST3_score=0.111;CADD_raw=2.110;CADD_phred=16.92;DANN_score=0.780;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.981;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.733;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=-0.177;phyloP20way_mammalian=0.135;phastCons7way_vertebrate=0.740;phastCons20way_mammalian=0.106;SiPhy_29way_logOdds=13.614;GDI_full_10282015=.;dpsi_max_tissue=-0.2286;dpsi_zscore=-0.740;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6915;gnomAD_exome_AFR=0.9204;gnomAD_exome_AMR=0.5612;gnomAD_exome_ASJ=0.7683;gnomAD_exome_EAS=0.5926;gnomAD_exome_FIN=0.6864;gnomAD_exome_NFE=0.7391;gnomAD_exome_OTH=0.7085;gnomAD_exome_SAS=0.5794;gnomAD_genome_ALL=0.7663;gnomAD_genome_AFR=0.9145;gnomAD_genome_AMR=0.6244;gnomAD_genome_ASJ=0.7914;gnomAD_genome_EAS=0.5772;gnomAD_genome_FIN=0.6794;gnomAD_genome_NFE=0.7310;gnomAD_genome_OTH=0.7177;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1068.72,0,-900.054:1295:568:680:18799:16536 0/1:-1436.02,0,-1679.87:2040:1026:940:26087:29332 1/1:-3215.25,-439.348,0:1603:18:1555:43485:479 1/1:-2296.9,-315.662,0:1118:10:1086:30051:222 0/1:-1203.47,0,-1542.33:1808:903:859:23417:26482 0/1:-1559.05,0,-1971.19:2294:1136:1100:29830:33149 . . 0/1:-1110.15,0,-1495.77:1697:885:756:20776:25330 0/1:-1155.23,0,-1514.37:1783:925:798:22100:26590 1/1:-3067.48,-430.208,0:1593:20:1540:41991:530 1/1:-3207.67,-450.123,0:1558:8:1532:42257:174 0/1:-1027.81,0,-1565.96:1680:891:743:20883:26108 0/1:-1050.91,0,-1084.83:1474:696:723:19429:20237 0/1:-992.617,0,-984.818:1245:582:622:17549:17046 0/1:-1614.69,0,-2304.84:2581:1325:1182:32672:38709 . 0/1:-2904.53,0,-3161.23:3822:1886:1837:51754:54701 1/1:-3391.01,-468.895,0:1634:11:1598:44572:238 0/1:-895.675,0,-1157.13:1323:680:595:16728:19899 1/1:-2490.97,-353.702,0:1238:7:1209:33271:168 1/1:-3610.88,-500.876,0:1767:11:1714:47496:245 1/1:-1713.85,-237.082,0:879:11:854:23475:295 1/1:-4597.01,-613.483,0:2227:20:2159:59863:583 0/1:-1343.06,0,-1752.59:2025:1061:899:24958:30542 1/1:-2698.94,-385.05,0:1426:17:1379:37128:415 0/1:-1633.41,0,-1317.43:1924:854:1013:28198:24348 1/1:-2790.61,-396.108,0:1396:7:1358:38049:171 0/1:-828.232,0,-1118.77:1367:720:598:15903:20094 1/1:-2893.64,-397.182,0:1377:5:1348:37790:172 1/1:-2590.32,-362.222,0:1272:8:1246:34482:191 0/1:-1336.62,0,-1557.12:1847:935:859:24055:27065 0/1:-1430.92,0,-1577.95:2022:970:984:27195:28212 1/1:-4012.69,-549.19,0:1983:20:1924:52596:467 0/1:-1214.83,0,-1385.22:1660:819:793:22375:23680 0/1:-1492.64,0,-1707.16:2135:1016:1055:29047:29619 1/1:-5078.46,-707.172,0:2416:6:2366:65953:91 0/1:-1058.78,0,-1095.35:1383:660:691:19063:19135 0/1:-957.822,0,-1555.05:1709:927:727:20004:26519 1/1:-2814.35,-397.038,0:1346:1:1322:36445:14 0/1:-1462.24,0,-1422.03:1940:874:1007:27989:25783 1/1:-3429.34,-480.193,0:1705:12:1668:45743:336 1/1:-3647.06,-487.584,0:1759:13:1701:47700:354 1/1:-3060.36,-428.872,0:1557:15:1510:41495:346 0/1:-1459.43,0,-1627.12:2037:986:968:26446:28479 1/1:-3380.52,-469.522,0:1605:3:1564:43735:55 0/1:-1281.82,0,-1389.56:1808:868:864:23770:24552 1/1:-2030.41,-289.387,0:992:3:969:26959:49 1/1:-2406.65,-333.676,0:1164:6:1138:31867:128 . 1/1:-4287.06,-604.187,0:2086:10:2040:57231:188 1/1:-3225.6,-461.857,0:1615:8:1571:42400:188 1/1:-4021.46,-542.556,0:1981:22:1929:53492:594 1/1:-4315.38,-597.689,0:2083:13:2031:55873:235 0/1:-666.976,0,-1035.52:1261:647:564:15101:18570 . . 1/1:-1974.7,-284.897,0:994:4:964:26320:89 1/1:-2453.35,-340.738,0:1245:16:1211:32736:421 0/1:-1467.3,0,-1851.98:2202:1125:995:27220:32292 1/1:-2158.1,-318.409,0:1144:11:1098:30038:240 1/1:-4398.65,-616.437,0:2208:19:2142:59403:417 0/1:-1156.73,0,-1379.1:1621:814:767:21203:23671 0/1:-784.148,0,-961.459:1177:606:534:14646:16942 0/1:-1455.92,0,-1692.14:2108:1062:997:27972:30933 1/1:-3572.87,-495.321,0:1695:6:1665:46762:120 0/1:-658.624,0,-810.402:1027:523:480:13039:14839 1/1:-3398.55,-468.56,0:1645:13:1599:44301:276 1/1:-3271.7,-460.874,0:1597:7:1555:43081:123 0/1:-1359.77,0,-1512.2:1869:924:882:24745:26379 1/1:-3694.41,-506.833,0:1809:12:1769:48635:344 1/1:-4571.27,-650.155,0:2229:7:2182:61761:124 1/1:-3611.45,-507.34,0:1796:12:1757:48771:326 1/1:-1748.81,-272.638,0:976:7:935:24770:165 0/1:-968.671,0,-1238.61:1399:711:645:17926:20897 1/1:-4245.02,-608.399,0:2143:16:2094:57146:383 . . 0/1:-841.181,0,-997.197:1202:595:569:15291:17381 1/1:-1830.44,-238.699,0:956:22:919:25507:625 0/1:-1327.45,0,-1479.17:1890:911:905:24786:25826 0/1:-1301.68,0,-1786.7:2155:1118:968:26992:31316 1/1:-4182.38,-572.477,0:2116:22:2043:55938:603 1/1:-2950.05,-390.498,0:1491:27:1436:39883:721 0/1:-1213.23,0,-1448.67:1729:853:819:22435:24819 1/1:-3598.18,-494.44,0:1761:14:1713:47601:331 1/1:-2494.32,-336.132,0:1211:10:1176:33303:263 0/1:-1457.66,0,-1464.02:1948:928:963:26507:26515 1/1:-1963.37,-261.077,0:946:9:919:25155:276 1/1:-3034.54,-408.457,0:1491:14:1448:39936:390 1/1:-4222.8,-599.237,0:2099:10:2055:57686:262 0/1:-1093.1,0,-1351.66:1648:813:779:21385:23519 1/1:-4232.4,-573.251,0:2036:17:1987:54906:401 1/1:-4018.75,-541.699,0:1955:17:1885:52319:437 1/1:-4016.2,-570.888,0:1989:8:1939:53602:185 . 1/1:-5645.74,-624.958,0:2197:11:2157:66583:322:11,2157 0/1:-2171.66,0,-1923.59:1991:948:1026:32320:29124:948,1026 1/1:-5557.89,-602.589,0:2166:17:2130:66417:495:17,2130 1/1:-3829.83,-422.566,0:1493:8:1472:45225:272:8,1472 0/1:-1695.4,0,-2248.99:1939:1049:867:26620:32792:1049,867 1/1:-5489.82,-608.026,0:2113:8:2086:64998:266:8,2086 1/1:-4564.07,-521.184,0:1776:4:1753:54053:118:4,1753 1/1:-5563.84,-613.762,0:2138:9:2109:65292:271:9,2109 0/1:-1976.04,0,-2126.48:2018:1035:960:29972:31743:1035,960 0/1:-4690.54,0,-1743.85:3176:1012:2120:66120:31328:1012,2120 1/1:-5047.18,-561.048,0:1955:9:1917:59790:218:9,1917 0/1:-1524.06,0,-1674.89:1575:796:762:23589:24830:796,762 0/1:-1903.56,0,-2027.22:1943:980:945:29061:30249:980,945 0/1:-1705.85,0,-1937.68:1820:931:866:26550:29000:931,866 1/1:-5704,-629.571,0:2244:16:2201:67739:436:16,2201 0/1:-1884.65,0,-2042.5:1971:985:951:29417:30534:985,951 1/1:-5411.56,-600.348,0:2125:15:2084:64517:407:15,2084 1/1:-4848.34,-547.17,0:1891:7:1863:57532:187:7,1863 1/1:-4392.55,-470.349,0:1694:14:1668:51503:454:14,1668 0/1:-2157.41,0,-2589.37:2315:1214:1070:33490:38366:1214,1070 chr22 19868228 . G A 8816.78 . AB=0.418605;ABP=67.3465;AC=2;AF=0.5;AN=4;AO=468;CIGAR=1X;DP=3276;DPB=1118;DPRA=0;EPP=3.67845;EPPR=17.1102;GTI=0;LEN=1;MEANALT=3;MQM=32.0513;MQMR=33.5287;NS=1;NUMALT=1;ODDS=1324.67;PAIRED=0.91453;PAIREDR=0.869932;PAO=0;PQA=0;PQR=0;PRO=0;QA=12613;QR=17766;RO=592;RPL=371;RPP=351.355;RPPR=442.132;RPR=97;RUN=1;SAF=187;SAP=44.0084;SAR=281;SF=0;SRF=266;SRP=16.2152;SRR=326;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0179;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0179;esp6500siv2_ea=0.0044;1000g2015aug_all=0.0169728;avsnp147=rs35544159;Kaviar_AF=0.006811;Kaviar_AC=1053;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0478;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0044;ExAC_OTH=0.0035;ExAC_SAS=0.0007;CLNALLELEID=259128;CLNDN=Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2662;dpsi_zscore=-0.802;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0474;gnomAD_exome_AMR=0.0066;gnomAD_exome_ASJ=0.0147;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0083;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0387;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0167;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-627.618,0,-1032.39:1118:592:468:12613:17766 . . . . . . . . . . . . . . . . . . . . . . 0/1:-1270.75,0,-1820.82:2158:1131:943:25085:34567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19868255 . AGGGGGGCCA AGGGGGCCA 6563.98 . AB=0.440454;ABP=35.5947;AC=46;AF=0.5;AN=84;AO=466;CIGAR=1M1D6M;DP=51630;DPB=1095.75;DPRA=0;EPP=89.1982;EPPR=64.7643;GTI=0;LEN=1;MEANALT=64;MQM=30.6223;MQMR=33.5278;NS=1;NUMALT=1;ODDS=970.244;PAIRED=0.901288;PAIREDR=0.848552;PAO=136;PQA=3133;PQR=3261;PRO=142;QA=10867;QR=14138;RO=449;RPL=359;RPP=298.927;RPPR=226.566;RPR=107;RUN=1;SAF=134;SAP=185.694;SAR=332;SF=0,1;SRF=131;SRP=172.129;SRR=318;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.1953;esp6500siv2_ea=0.1610;esp6500siv2_all=0.1953;esp6500siv2_ea=0.1610;1000g2015aug_all=0.156749;avsnp147=rs34827823;Kaviar_AF=0.0045536;Kaviar_AC=704;Kaviar_AN=154602;ExAC_ALL=0.1498;ExAC_AFR=0.2909;ExAC_AMR=0.0947;ExAC_EAS=0.0123;ExAC_FIN=0.1104;ExAC_NFE=0.1660;ExAC_OTH=0.1738;ExAC_SAS=0.1242;CLNALLELEID=507628;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1351;gnomAD_exome_AFR=0.2729;gnomAD_exome_AMR=0.0918;gnomAD_exome_ASJ=0.1912;gnomAD_exome_EAS=0.0109;gnomAD_exome_FIN=0.0907;gnomAD_exome_NFE=0.1565;gnomAD_exome_OTH=0.1589;gnomAD_exome_SAS=0.1165;gnomAD_genome_ALL=0.1665;gnomAD_genome_AFR=0.2637;gnomAD_genome_AMR=0.1098;gnomAD_genome_ASJ=0.2252;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0951;gnomAD_genome_NFE=0.1480;gnomAD_genome_OTH=0.1293;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:.,.,-652.058:1058:449:466:10867:14138 . . . . . . . 0/1:.,.,-710.898:1069:473:443:10040:15065 . 0/1:.,.,-973.818:1171:556:457:10502:17691 . . 0/1:.,.,-1510.59:1812:850:714:16537:27024 . . . . 0/1:.,.,-520.581:833:333:378:8868:10625 . . . . . . 1/1:.,.,0:988:14:858:20201:460 . . . . 0/1:.,.,-1028.53:1401:633:574:13713:20074 . . 0/1:.,.,-1011.42:1439:616:609:13857:19675 . . 0/1:.,.,-1050.81:1202:596:430:9982:18466 . 0/1:.,.,-803.914:1335:530:621:14787:16685 0/1:.,.,-780.26:1186:519:494:11721:16437 . 1/1:.,.,0:1091:16:938:22301:528 . . . 0/1:.,.,-419.797:690:283:330:7970:8939 . . 0/1:.,.,-949.092:1456:625:610:14550:19894 . 0/1:.,.,-945.138:1346:592:577:13491:18817 . 0/1:.,.,-592.496:841:378:330:7213:11866 . . . 0/1:.,.,-599.518:903:396:384:9001:12553 . 0/1:.,.,-521.198:787:354:314:7200:11045 0/1:.,.,-912.613:1454:607:613:14064:19145 . . 0/1:.,.,-1037.74:1465:662:587:14325:20809 . . . 0/1:.,.,-808.728:1133:484:465:10882:15346 . . 0/1:.,.,-1033.39:1583:682:708:16417:21816 0/1:.,.,-830.995:1224:530:546:12394:16830 . . 0/1:.,.,-963.698:1497:634:657:15264:20103 . . . 1/1:.,.,0:689:17:593:13295:510 . 0/1:.,.,-1164.74:1513:685:586:13450:21584 . 0/1:.,.,-712.473:1037:448:429:9907:14224 . 0/1:.,.,-819.168:1241:529:540:12561:16586 . . . . 0/1:.,.,-1026.97:1432:652:584:13891:20602 0/1:.,.,-866.288:1113:519:447:10328:16282 . . 0/1:.,.,-949.313:1353:591:562:12924:18786 . . . 0/1:-1256.55,0,-1331.05:1441:615:671:18878:19840:615,671 . . 0/1:-1166.12,0,-1352.23:1390:620:629:17630:19950:620,629 0/1:-998.48,0,-1202.09:1231:557:542:15264:17879:557,542 . . . 0/1:-1213.94,0,-1308.86:1388:611:649:18220:19697:611,649 0/1:-866.84,0,-1083.49:1043:481:462:13163:15657:481,462 0/1:-1028.9,0,-1237.16:1256:552:555:15596:17978:552,555 0/1:-991.051,0,-1129.03:1170:513:521:14922:16522:513,521 0/1:-1108.18,0,-1479.21:1458:669:611:17164:21704:669,611 0/1:-1048.01,0,-1245.24:1266:569:563:15910:18268:569,563 1/1:-3013.35,-323.745,0:1395:21:1236:35103:695:21,1236 0/1:-926.801,0,-1317.61:1250:591:514:14422:19157:591,514 . . chr22 19870831 . C T 1047.04 . AB=0.496552;ABP=3.02528;AC=64;AF=0.5;AN=116;AO=72;CIGAR=1X;DP=8657;DPB=145;DPRA=0;EPP=4.09604;EPPR=10.5269;GTI=0;LEN=1;MEANALT=3;MQM=27.9028;MQMR=30.2;NS=1;NUMALT=1;ODDS=167.901;PAIRED=0.861111;PAIREDR=0.969231;PAO=0;PQA=0;PQR=0;PRO=0;QA=1838;QR=2019;RO=65;RPL=18;RPP=42.0968;RPPR=27.3642;RPR=54;RUN=1;SAF=45;SAP=12.7819;SAR=27;SF=0,1;SRF=47;SRP=31.1058;SRR=18;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2504;esp6500siv2_ea=0.2962;esp6500siv2_all=0.2504;esp6500siv2_ea=0.2962;1000g2015aug_all=0.221645;avsnp147=rs2239893;Kaviar_AF=0.266141;Kaviar_AC=41146;Kaviar_AN=154602;ExAC_ALL=0.2694;ExAC_AFR=0.1607;ExAC_AMR=0.2194;ExAC_EAS=0.2663;ExAC_FIN=0.2795;ExAC_NFE=0.3069;ExAC_OTH=0.2719;ExAC_SAS=0.2151;CLNALLELEID=379816;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1649;dpsi_zscore=0.651;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2698;gnomAD_exome_AFR=0.1611;gnomAD_exome_AMR=0.2295;gnomAD_exome_ASJ=0.3475;gnomAD_exome_EAS=0.2658;gnomAD_exome_FIN=0.2782;gnomAD_exome_NFE=0.3038;gnomAD_exome_OTH=0.2735;gnomAD_exome_SAS=0.2155;gnomAD_genome_ALL=0.2586;gnomAD_genome_AFR=0.1697;gnomAD_genome_AMR=0.2745;gnomAD_genome_ASJ=0.3543;gnomAD_genome_EAS=0.2599;gnomAD_genome_FIN=0.2803;gnomAD_genome_NFE=0.3008;gnomAD_genome_OTH=0.2806;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-83.658,0,-99.6816:145:65:72:1838:2019 0/1:-116.004,0,-152.813:180:88:87:2293:2724 . 0/1:-50.3016,0,-88.4599:97:52:42:1121:1574 0/1:-117.754,0,-130.954:174:84:84:2231:2464 . . . 0/1:-141.064,0,-131.077:175:73:97:2736:2299 0/1:-123.464,0,-133.463:176:80:85:2374:2451 0/1:-63.6383,0,-174.656:163:99:57:1568:2955 1/1:-304.339,-37.3621,0:175:5:153:4230:145 . . . . . 0/1:-244.039,0,-330.072:367:188:165:4495:5716 0/1:-137.128,0,-116.557:171:81:82:2360:2424 0/1:-116.755,0,-91.0149:144:61:77:2142:1956 0/1:-41.0679,0,-137.459:127:81:42:1116:2306 . 0/1:-82.6927,0,-52.4764:112:41:61:1620:1241 0/1:-144.597,0,-145.795:205:98:101:2687:2885 0/1:-167.791,0,-157.445:216:96:114:3002:2894 1/1:-220.563,-30.4202,0:140:3:125:3192:91 0/1:-71.566,0,-180.771:164:96:61:1728:2923 . . 0/1:-79.6481,0,-126.329:137:70:60:1586:2155 0/1:-90.463,0,-133.782:159:85:66:1834:2557 0/1:-138.582,0,-183.985:207:109:90:2458:3252 . 1/1:-345.63,-42.8971,0:185:6:167:4799:128 . . . 0/1:-161.113,0,-167.074:206:100:99:2819:2992 . 0/1:-71.6322,0,-117.033:125:68:52:1364:2064 . 0/1:-90.2379,0,-168.85:184:97:70:1904:2976 0/1:-152.511,0,-128.212:179:83:90:2545:2498 . . . . 0/1:-85.5117,0,-59.9879:100:40:55:1505:1289 . . . 0/1:-82.603,0,-100.052:143:65:67:1759:1992 . 0/1:-157.015,0,-140.941:203:89:102:2778:2673 . . . 0/1:-77.4961,0,-78.3896:111:56:53:1525:1668 0/1:-104.675,0,-84.4586:137:56:74:2050:1772 . . . . 0/1:-85.6169,0,-98.2485:121:60:54:1544:1733 . 1/1:-371.273,-50.1373,0:199:3:187:5022:96 0/1:-34.7295,0,-106.212:94:58:31:875:1686 0/1:-138.324,0,-147.96:185:85:98:2704:2633 0/1:-110.763,0,-118.262:151:69:73:1973:2171 0/1:-111.408,0,-127.13:164:74:78:2161:2197 0/1:-95.1149,0,-154.219:169:88:74:1986:2699 . . 0/1:-41.1907,0,-71.0793:105:54:43:1171:1484 . 0/1:-108.179,0,-170.732:176:97:73:2035:2930 . . . . . . 0/1:-179.213,0,-194.181:242:121:113:3186:3644 0/1:-95.1243,0,-118.267:163:81:72:1955:2330 0/1:-114.505,0,-66.8863:131:43:78:2025:1321 . 0/1:-73.3917,0,-137.353:133:73:51:1452:2258 . 1/1:-193.022,-28.2968,0:107:0:94:2591:0 0/1:-93.1286,0,-113.373:136:68:62:1747:2017 . . 0/1:-132.038,0,-183.319:203:102:90:2577:3105 0/1:-140.628,0,-163.036:213:101:101:2651:3065 0/1:-133.17,0,-168.991:211:103:100:2720:3065 . . 0/1:-82.9547,0,-83.8066:86:42:44:1300:1351:42,44 0/1:-91.2308,0,-82.9981:88:44:43:1398:1340:44,43 1/1:-111.158,-7.96392,0:49:2:46:1399:72:2,46 0/1:-48.335,0,-64.796:56:29:25:768:959:29,25 . 0/1:-68.1137,0,-56.6317:65:29:35:1035:944:29,35 0/1:-86.9191,0,-67.2122:78:34:44:1320:1040:34,44 0/1:-61.7061,0,-73.9963:61:33:28:907:1094:33,28 0/1:-80.2692,0,-153.846:116:70:44:1333:2208:70,44 0/1:-62.0959,0,-71.6113:67:34:31:1011:1031:34,31 . . . 0/1:-60.9562,0,-107.41:81:45:36:1012:1519:45,36 . . . . . chr22 19870995 . CAGAGAGG CAGAGG 318.11 . AB=0.355556;ABP=27.4756;AC=1;AF=0.5;AN=2;AO=48;CIGAR=1M2D5M;DP=135;DPB=126.125;DPRA=0;EPP=3.73412;EPPR=3.04371;GTI=0;LEN=2;MEANALT=17;MQM=31.1875;MQMR=36.3846;NS=1;NUMALT=1;ODDS=73.2478;PAIRED=0.895833;PAIREDR=0.953846;PAO=8.5;PQA=251.5;PQR=219.5;PRO=7.5;QA=955;QR=1972;RO=65;RPL=25;RPP=3.19126;RPPR=8.65613;RPR=23;RUN=1;SAF=11;SAP=33.5919;SAR=37;SF=0;SRF=13;SRP=53.8228;SRR=52;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.124e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-41.5552,0,-117.596:135:65:48:955:1972 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19882976 . G T 7866.50 . AB=0.476068;ABP=8.83059;AC=1;AF=0.5;AN=2;AO=557;CIGAR=1X;DP=1170;DPB=1170;DPRA=0;EPP=4.13697;EPPR=5.83826;GTI=0;LEN=1;MEANALT=3;MQM=32.7612;MQMR=31.7625;NS=1;NUMALT=1;ODDS=1811.33;PAIRED=0.904847;PAIREDR=0.863787;PAO=0;PQA=0;PQR=0;PRO=0;QA=14943;QR=18798;RO=602;RPL=220;RPP=56.3771;RPPR=165.128;RPR=337;RUN=1;SAF=330;SAP=44.3696;SAR=227;SF=0;SRF=360;SRP=53.2355;SRR=242;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon11:c.C903A:p.T301T;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0116;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0116;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0123802;avsnp147=rs35695986;Kaviar_AF=0.003357;Kaviar_AC=519;Kaviar_AN=154602;ExAC_ALL=0.0034;ExAC_AFR=0.0351;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0033;ExAC_SAS=6.057e-05;CLNALLELEID=243645;CLNDN=Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8188;dpsi_zscore=-1.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0029;gnomAD_exome_AFR=0.0367;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0107;gnomAD_genome_AFR=0.0372;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-804.705,0,-1007.2:1170:602:557:14943:18798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19882984 . T G 14367.61 . AB=0.49258;ABP=3.68706;AC=45;AF=0.5;AN=80;AO=697;CIGAR=1X;DP=58880;DPB=1415;DPRA=0;EPP=3.53681;EPPR=20.6869;GTI=0;LEN=1;MEANALT=3;MQM=30.7432;MQMR=32.3922;NS=1;NUMALT=1;ODDS=2327.87;PAIRED=0.857963;PAIREDR=0.871201;PAO=0;PQA=0;PQR=0;PRO=0;QA=19678;QR=20049;RO=691;RPL=295;RPP=38.6791;RPPR=112.901;RPR=402;RUN=1;SAF=401;SAP=37.3582;SAR=296;SF=0,1;SRF=433;SRP=99.2496;SRR=258;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon11:c.A895C:p.S299R;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2709;esp6500siv2_ea=0.1662;esp6500siv2_all=0.2709;esp6500siv2_ea=0.1662;1000g2015aug_all=0.251198;avsnp147=rs5992495;Kaviar_AF=0.185929;Kaviar_AC=28745;Kaviar_AN=154602;ExAC_ALL=0.1879;ExAC_AFR=0.5139;ExAC_AMR=0.1389;ExAC_EAS=0.0655;ExAC_FIN=0.1259;ExAC_NFE=0.1665;ExAC_OTH=0.1778;ExAC_SAS=0.2041;CLNALLELEID=259130;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.495;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.2;FATHMM_pred=T;PROVEAN_score=-0.64;PROVEAN_pred=N;VEST3_score=0.142;CADD_raw=-1.829;CADD_phred=0.002;DANN_score=0.245;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.952;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-2.79;phyloP7way_vertebrate=-0.767;phyloP20way_mammalian=-2.460;phastCons7way_vertebrate=0.019;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=3.766;GDI_full_10282015=.;dpsi_max_tissue=0.2281;dpsi_zscore=0.775;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1790;gnomAD_exome_AFR=0.5226;gnomAD_exome_AMR=0.1379;gnomAD_exome_ASJ=0.1877;gnomAD_exome_EAS=0.0634;gnomAD_exome_FIN=0.1186;gnomAD_exome_NFE=0.1666;gnomAD_exome_OTH=0.1752;gnomAD_exome_SAS=0.2041;gnomAD_genome_ALL=0.2514;gnomAD_genome_AFR=0.5162;gnomAD_genome_AMR=0.1256;gnomAD_genome_ASJ=0.1933;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.1348;gnomAD_genome_NFE=0.1572;gnomAD_genome_OTH=0.2002;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-1026.29,0,-1057.61:1415:691:697:19678:20049 . . . 0/1:-1012.04,0,-1102.84:1333:663:650:18762:19688 . . . . . 0/1:-873.93,0,-940.145:1162:564:591:16726:16914 . . . . . . . . . . 1/1:-2203.51,-296.548,0:1133:22:1092:31722:492 . 0/1:-976.717,0,-1089.79:1284:652:619:17980:19214 0/1:-911.712,0,-810.065:1171:550:608:17121:15612 0/1:-996.987,0,-755.883:1135:496:623:17744:14083 . . 1/1:-3181.42,-375.057,0:1542:45:1483:42800:1075 . . 0/1:-1305.53,0,-1171.33:1594:746:827:23797:21886 0/1:-1568.01,0,-1527.75:1963:925:1012:28501:27138 . 0/1:-1118.09,0,-1064.87:1416:662:735:20940:19528 . . . . . . 0/1:-1117.22,0,-1227.06:1484:744:717:20335:22083 . . . 0/1:-1240.96,0,-1450.56:1711:862:828:22924:25460 0/1:-1430.44,0,-1324.59:1700:786:897:25425:23045 0/1:-962.566,0,-1027.8:1408:693:698:19588:19951 . . 0/1:-837.676,0,-741.693:1099:505:573:15904:14466 . 0/1:-1258.73,0,-1202.66:1604:764:815:23528:22182 . . . . . 0/1:-1001.92,0,-1046.21:1318:653:653:18606:18779 . 1/1:-3631.98,-449.333,0:1712:36:1656:49275:808 . . . . 0/1:-1035.01,0,-1092.11:1368:672:687:19558:19960 0/1:-1097.94,0,-969.698:1372:653:700:20124:18867 1/1:-4226.25,-510.741,0:1925:40:1869:55623:915 0/1:-1442.45,0,-1398.83:1818:877:916:26064:25359 . . . . 0/1:-1280.97,0,-1298.1:1656:805:834:23984:23615 . 1/1:-1652.32,-201.587,0:834:24:802:23477:590 0/1:-1134.91,0,-1100.39:1502:708:767:21682:20691 0/1:-1311.82,0,-1201.58:1655:773:856:24383:22365 . 0/1:-1055.68,0,-1068.52:1368:658:697:19879:19581 0/1:-929.184,0,-869.451:1219:565:632:18134:16237 . 0/1:-840.27,0,-784.404:1046:496:542:15476:14593 . . 0/1:-903.464,0,-1107.26:1320:669:629:17664:19882 0/1:-1670.37,0,-1503.96:2028:944:1063:30445:27647 . . . . . . 0/1:-1679.07,0,-1685.19:1608:793:813:25377:25198:793,813 . . . . . . . . 0/1:-1901.22,0,-1866.61:1755:863:887:28152:27727:863,887 0/1:-1368.63,0,-1352.89:1310:646:663:20499:20339:646,663 0/1:-1689.22,0,-1493.41:1541:733:800:25051:23069:733,800 0/1:-1363.11,0,-1390.85:1348:677:665:20808:21108:677,665 0/1:-1836.37,0,-2028.48:1897:982:906:28131:30312:982,906 . 0/1:-1801.3,0,-1661.69:1695:825:866:27231:25574:825,866 0/1:-1645.76,0,-1353.51:1431:653:775:24152:20603:653,775 . . chr22 19883123 . C T 4075.23 . AB=0.470684;ABP=7.59373;AC=1;AF=0.5;AN=2;AO=289;CIGAR=1X;DP=614;DPB=614;DPRA=0;EPP=6.32386;EPPR=4.86329;GTI=0;LEN=1;MEANALT=3;MQM=33.2803;MQMR=34.0033;NS=1;NUMALT=1;ODDS=938.356;PAIRED=0.903114;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=7676;QR=9006;RO=300;RPL=187;RPP=57.2971;RPPR=47.0478;RPR=102;RUN=1;SAF=81;SAP=124.199;SAR=208;SF=0;SRF=71;SRP=183.706;SRR=229;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=0.000399361;avsnp147=rs189646218;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0005;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=507481;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1764;dpsi_zscore=-0.639;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.878e-05;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-433.354,0,-524.619:614:300:289:7676:9006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19885548 . G T 2861.11 . AB=0.409214;ABP=29.4269;AC=45;AF=0.5;AN=80;AO=151;CIGAR=1X;DP=17268;DPB=369;DPRA=0;EPP=3.36982;EPPR=16.3774;GTI=0;LEN=1;MEANALT=3;MQM=28.7483;MQMR=30.4121;NS=1;NUMALT=1;ODDS=326.547;PAIRED=0.847682;PAIREDR=0.899497;PAO=0;PQA=0;PQR=0;PRO=0;QA=3756;QR=5701;RO=199;RPL=27;RPP=138.317;RPPR=196.031;RPR=124;RUN=1;SAF=100;SAP=37.5381;SAR=51;SF=0,1;SRF=115;SRP=13.4967;SRR=84;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2428;esp6500siv2_ea=0.1568;esp6500siv2_all=0.2428;esp6500siv2_ea=0.1568;1000g2015aug_all=0.242212;avsnp147=rs12169091;Kaviar_AF=0.111493;Kaviar_AC=17237;Kaviar_AN=154602;ExAC_ALL=0.2421;ExAC_AFR=0.5055;ExAC_AMR=0.25;ExAC_EAS=0.0960;ExAC_FIN=0.3077;ExAC_NFE=0.2105;ExAC_OTH=0.1771;ExAC_SAS=0.2133;CLNALLELEID=378611;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0604;dpsi_zscore=0.343;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1753;gnomAD_exome_AFR=0.4911;gnomAD_exome_AMR=0.1389;gnomAD_exome_ASJ=0.1878;gnomAD_exome_EAS=0.0627;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1687;gnomAD_exome_OTH=0.1752;gnomAD_exome_SAS=0.2049;gnomAD_genome_ALL=0.2410;gnomAD_genome_AFR=0.4801;gnomAD_genome_AMR=0.1244;gnomAD_genome_ASJ=0.1921;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.1345;gnomAD_genome_NFE=0.1568;gnomAD_genome_OTH=0.2;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-168.257,0,-308.282:369:199:151:3756:5701 . . . 0/1:-274.877,0,-292.919:383:186:183:5038:5252 . . . . . 0/1:-195.734,0,-271.335:317:170:142:3792:4990 . . . . . . . . . . 1/1:-418.758,-37.2856,0:296:31:249:6581:589 . 0/1:-153.822,0,-376.47:346:210:129:3335:6178 0/1:-176.562,0,-246.263:326:173:143:3648:4843 0/1:-194.365,0,-318.25:354:191:152:4116:5631 . . 1/1:-716.242,-34.7151,0:492:66:402:10775:1274 . . 0/1:-278.591,0,-403.987:497:251:219:5656:7277 0/1:-428.023,0,-594.19:727:381:324:8205:11066 . 0/1:-218.804,0,-379.565:444:248:176:4602:7070 . . . . . . 0/1:-286.692,0,-349.464:442:227:202:5276:6398 . . . 0/1:-230.357,0,-387.763:446:245:188:5019:7129 0/1:-358.316,0,-506.308:556:297:243:6693:8774 0/1:-180.114,0,-302.807:352:198:142:3961:5496 . . 0/1:-140.625,0,-251.499:298:165:120:3132:4623 . 0/1:-251.48,0,-421.345:476:264:203:5371:7474 . . . . . 0/1:-289.454,0,-424.008:481:259:204:5595:7424 . 1/1:-743.618,-67.4569,0:496:49:419:11140:961 . . . . 0/1:-237.01,0,-391.47:444:250:178:4835:6965 0/1:-192.828,0,-488.382:476:290:169:4378:8508 1/1:-778.737,-42.9895,0:540:73:437:11615:1431 0/1:-313.143,0,-367.476:474:234:227:6021:6690 . . . . 0/1:-243.953,0,-380.294:435:228:197:5080:6698 . 1/1:-384.39,-19.8812,0:263:35:210:5740:678 0/1:-282.81,0,-321.31:454:231:212:5557:6462 0/1:-286.533,0,-427.519:522:284:223:5925:8042 . 0/1:-233.602,0,-450.75:466:258:191:5254:7397 0/1:-205.022,0,-357.405:404:225:166:4511:6301 . 0/1:-156.724,0,-284.885:294:162:119:3095:4768 . . 0/1:-172.392,0,-320.588:328:186:132:3546:5383 0/1:-326.931,0,-434.688:537:275:242:6482:7906 . . . . . . 0/1:-386.768,0,-441.856:427:217:207:6111:6619:217,207 . . . . . . . . 0/1:-534.449,0,-442.555:504:231:270:8034:7085:231,270 0/1:-324.233,0,-561.233:437:259:177:5366:8161:259,177 0/1:-456.131,0,-382.882:440:202:236:6984:6097:202,236 0/1:-400.247,0,-409.265:411:206:202:6110:6346:206,202 0/1:-411.186,0,-525.82:477:249:226:6631:7876:249,226 . 0/1:-484.829,0,-479.966:491:240:247:7270:7286:240,247 0/1:-299.785,0,-382.44:346:184:159:4716:5783:184,159 . . chr22 19898879 . C T 9929.93 . AB=0.476458;ABP=9.86043;AC=1;AF=0.5;AN=2;AO=678;CIGAR=1X;DP=1423;DPB=1423;DPRA=0;EPP=11.6706;EPPR=3.09072;GTI=0;LEN=1;MEANALT=3;MQM=35.469;MQMR=36.1422;NS=1;NUMALT=1;ODDS=2286.45;PAIRED=0.957227;PAIREDR=0.943704;PAO=0;PQA=0;PQR=0;PRO=0;QA=18352;QR=19625;RO=675;RPL=98;RPP=747.089;RPPR=640.056;RPR=580;RUN=1;SAF=419;SAP=85.001;SAR=259;SF=0;SRF=385;SRP=32.0437;SRR=290;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200811055;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.504e-05;ExAC_AFR=0;ExAC_AMR=8.721e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.017e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0245;dpsi_zscore=-0.133;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.437e-05;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.686e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1092.63,0,-1188:1423:675:678:18352:19625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19898886 . C T 11237.57 . AB=0.484496;ABP=5.16494;AC=27;AF=0.5;AN=50;AO=500;CIGAR=1X;DP=35979;DPB=1032;DPRA=0;EPP=6.91895;EPPR=8.49495;GTI=0;LEN=1;MEANALT=3;MQM=36.812;MQMR=37.3381;NS=1;NUMALT=1;ODDS=1782.47;PAIRED=0.92;PAIREDR=0.946392;PAO=0;PQA=0;PQR=0;PRO=0;QA=13934;QR=14289;RO=485;RPL=63;RPP=610.484;RPPR=529.756;RPR=437;RUN=1;SAF=300;SAP=46.4397;SAR=200;SF=0,1;SRF=277;SRP=24.3265;SRR=208;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.1060;esp6500siv2_ea=0.0903;esp6500siv2_all=0.1060;esp6500siv2_ea=0.0903;1000g2015aug_all=0.171526;avsnp147=rs9606176;Kaviar_AF=0.125839;Kaviar_AC=19455;Kaviar_AN=154602;ExAC_ALL=0.1302;ExAC_AFR=0.1492;ExAC_AMR=0.2188;ExAC_EAS=0.2250;ExAC_FIN=0.1542;ExAC_NFE=0.0908;ExAC_OTH=0.1325;ExAC_SAS=0.1572;CLNALLELEID=378693;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0576;dpsi_zscore=0.331;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1339;gnomAD_exome_AFR=0.1482;gnomAD_exome_AMR=0.2021;gnomAD_exome_ASJ=0.0865;gnomAD_exome_EAS=0.2201;gnomAD_exome_FIN=0.1610;gnomAD_exome_NFE=0.0908;gnomAD_exome_OTH=0.1182;gnomAD_exome_SAS=0.1590;gnomAD_genome_ALL=0.1351;gnomAD_genome_AFR=0.1518;gnomAD_genome_AMR=0.1933;gnomAD_genome_ASJ=0.1192;gnomAD_genome_EAS=0.2237;gnomAD_genome_FIN=0.1678;gnomAD_genome_NFE=0.1058;gnomAD_genome_OTH=0.1278;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-854.961,0,-878.335:1032:485:500:13934:14289 . 0/1:-1534.2,0,-1673.5:1897:916:892:25312:27139 0/1:-913.17,0,-1274.97:1340:692:583:15842:20471 1/1:-3126.74,-305.972,0:1584:62:1428:39157:1795 . 0/1:-1366.6,0,-1481.14:1689:797:813:22558:23735 . . . . . . 1/1:-2377.74,-301.961,0:1215:20:1113:30327:498 . . . . . . . 0/1:-1168.89,0,-1574.87:1640:849:724:20100:25151 . 0/1:-1358.28,0,-1447.27:1680:787:822:22373:23208 . 0/1:-729.218,0,-1006.06:1123:563:489:12989:16649 . . . . . 0/1:-1121.23,0,-1385.55:1493:734:689:18880:22050 0/1:-1276.72,0,-1432.2:1656:811:777:21334:23521 . . . . 0/1:-1272.7,0,-1954.7:1873:989:802:21877:29812 . . . 0/1:-1395.29,0,-1649.81:1828:883:848:23348:26384 . . . . . . . . 0/1:-1148.38,0,-1708.48:1707:911:723:19818:27238 0/1:-733.313,0,-819.926:1007:473:478:12764:13960 . 0/1:-1176.74,0,-1485.92:1592:802:722:19940:23689 . . . 0/1:-542.958,0,-859.615:876:456:362:9870:13640 . 0/1:-1000.76,0,-1048.25:1228:581:605:16778:17429 . . . . . . . . . . . . . 0/1:-1237.49,0,-1678.92:1738:900:766:21084:26619 . . . . . . . . . . . . . . 0/1:-956.886,0,-1454.79:1387:732:594:16671:22331 . . . . . 0/1:-1081.18,0,-1217.69:1167:601:546:16767:18650:601,546 . . 0/1:-991.343,0,-1142.33:1034:535:491:15331:16893:535,491 . . . . 0/1:-979.855,0,-2817.09:1884:1268:584:17965:39464:1268,584 . . 0/1:-904.36,0,-1184.18:1043:547:478:14336:17267:547,478 . . 0/1:-1242.75,0,-1334.49:1266:631:613:18935:19859:631,613 . . . . chr22 19898887 . G A 7932.75 . AB=0.431457;ABP=59.5689;AC=7;AF=0.5;AN=14;AO=598;CIGAR=1X;DP=9351;DPB=1386;DPRA=0;EPP=16.9687;EPPR=5.44932;GTI=0;LEN=1;MEANALT=3;MQM=34.9064;MQMR=35.7135;NS=1;NUMALT=1;ODDS=1733.39;PAIRED=0.90301;PAIREDR=0.912607;PAO=0;PQA=0;PQR=0;PRO=0;QA=15476;QR=20322;RO=698;RPL=81;RPP=693.292;RPPR=485.948;RPR=517;RUN=1;SAF=329;SAP=16.0827;SAR=269;SF=0,1;SRF=377;SRP=12.7664;SRR=321;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0325;esp6500siv2_ea=0.0214;esp6500siv2_all=0.0325;esp6500siv2_ea=0.0214;1000g2015aug_all=0.048123;avsnp147=rs45550336;Kaviar_AF=0.0331432;Kaviar_AC=5124;Kaviar_AN=154602;ExAC_ALL=0.0349;ExAC_AFR=0.0580;ExAC_AMR=0.0464;ExAC_EAS=0.0393;ExAC_FIN=0.0120;ExAC_NFE=0.0194;ExAC_OTH=0.0234;ExAC_SAS=0.0829;CLNALLELEID=378615;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1198;dpsi_zscore=-0.506;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0349;gnomAD_exome_AFR=0.0595;gnomAD_exome_AMR=0.0472;gnomAD_exome_ASJ=0.0265;gnomAD_exome_EAS=0.0365;gnomAD_exome_FIN=0.0121;gnomAD_exome_NFE=0.0205;gnomAD_exome_OTH=0.0235;gnomAD_exome_SAS=0.0822;gnomAD_genome_ALL=0.0294;gnomAD_genome_AFR=0.0545;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0309;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0185;gnomAD_genome_OTH=0.0286;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-842.142,0,-1245.21:1386:698:598:15476:20322 . . . 0/1:-897.914,0,-1383.34:1444:726:624:15805:21516 . . . . . . . . . . . . . . . . 0/1:-736.587,0,-1026.38:1182:570:533:13504:17008 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-806.127,0,-1238.02:1383:687:603:14953:20299 . . . . . . . . . . . . . . . . . . 0/1:-905.651,0,-1519.22:1536:801:645:16584:23843 . . . . . . . . . . . . . . . 0/1:-754.122,0,-1099.55:1202:601:516:13221:17644 . . . . . . . . . . 0/1:-1074.26,0,-1263.53:1218:599:580:16809:19066:599,580 . . . . . . . . . . . . . . . . . . chr22 19898951 . T C 11007.60 . AB=0.492515;ABP=3.66044;AC=1;AF=0.5;AN=2;AO=658;CIGAR=1X;DP=1336;DPB=1336;DPRA=0;EPP=18.27;EPPR=42.5854;GTI=0;LEN=1;MEANALT=3;MQM=35.8784;MQMR=37.9969;NS=1;NUMALT=1;ODDS=2534.59;PAIRED=0.958967;PAIREDR=0.951562;PAO=0;PQA=0;PQR=0;PRO=0;QA=18380;QR=18641;RO=640;RPL=430;RPP=137.668;RPPR=125.495;RPR=228;RUN=1;SAF=301;SAP=13.3594;SAR=357;SF=0;SRF=319;SRP=3.02387;SRR=321;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon8:c.A611G:p.Y204C;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199765650;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=5.802e-05;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.999e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.078;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.3;MutationAssessor_pred=M;FATHMM_score=0.89;FATHMM_pred=T;PROVEAN_score=-6.32;PROVEAN_pred=D;VEST3_score=0.598;CADD_raw=4.921;CADD_phred=25.0;DANN_score=0.997;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.595;MetaSVM_pred=T;MetaLR_score=0.255;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.57;phyloP7way_vertebrate=0.673;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.971;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.041;GDI_full_10282015=.;dpsi_max_tissue=-0.3034;dpsi_zscore=-0.858;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.498e-05;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.847e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-1125.21,0,-1158.27:1336:640:658:18380:18641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19903379 . GATA GA 12536.90 . AB=0.441279;ABP=62.9401;AC=1;AF=0.5;AN=2;AO=883;CIGAR=1M2D1M;DP=2001;DPB=1566;DPRA=0;EPP=160.421;EPPR=118.301;GTI=0;LEN=2;MEANALT=38;MQM=37.9875;MQMR=39.5208;NS=1;NUMALT=1;ODDS=2886.73;PAIRED=0.988675;PAIREDR=0.975052;PAO=9;PQA=224.5;PQR=461.5;PRO=18;QA=21634;QR=28914;RO=962;RPL=512;RPP=51.9016;RPPR=53.7984;RPR=371;RUN=1;SAF=433;SAP=3.72101;SAR=450;SF=0;SRF=486;SRP=3.23602;SRR=476;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1283.79,0,-1930.32:2001:962:883:21634:28914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19905748 . G A 8756.42 . AB=0.469428;ABP=11.2422;AC=3;AF=0.5;AN=6;AO=476;CIGAR=1X;DP=3694;DPB=1014;DPRA=0;EPP=11.8422;EPPR=3.35051;GTI=0;LEN=1;MEANALT=3;MQM=36.2815;MQMR=38.1934;NS=1;NUMALT=1;ODDS=1825.72;PAIRED=0.968487;PAIREDR=0.961315;PAO=0;PQA=0;PQR=0;PRO=0;QA=13670;QR=16001;RO=517;RPL=317;RPP=116.894;RPPR=193.566;RPR=159;RUN=1;SAF=237;SAP=3.02855;SAR=239;SF=0,1;SRF=275;SRP=7.58425;SRR=242;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000399361;avsnp147=rs180876844;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0001;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0011;ExAC_SAS=0.0008;CLNALLELEID=507646;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1377;dpsi_zscore=0.587;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-813.643,0,-1041.79:1014:517:476:13670:16001 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1278.25,0,-1781.01:1437:788:627:19936:25642:788,627 . . . . 0/1:-1355.37,0,-1252.15:1243:584:641:20192:18801:584,641 . . . . . . chr22 19905802 . G A 15119.17 . AB=0.491296;ABP=3.69072;AC=143;AF=0.5;AN=202;AO=508;CIGAR=1X;DP=110568;DPB=1034;DPRA=0;EPP=96.6401;EPPR=95.1976;GTI=0;LEN=1;MEANALT=3;MQM=37.1713;MQMR=37.6483;NS=1;NUMALT=1;ODDS=1929.62;PAIRED=0.966535;PAIREDR=0.952849;PAO=0;PQA=0;PQR=0;PRO=0;QA=14129;QR=14599;RO=509;RPL=297;RPP=34.6249;RPPR=3.01457;RPR=211;RUN=1;SAF=189;SAP=75.2502;SAR=319;SF=0,1;SRF=194;SRP=65.4711;SRR=315;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.6240;esp6500siv2_ea=0.5597;esp6500siv2_all=0.6240;esp6500siv2_ea=0.5597;1000g2015aug_all=0.7498;avsnp147=rs756661;Kaviar_AF=0.119746;Kaviar_AC=18513;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0994;dpsi_zscore=0.481;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6590;gnomAD_genome_AFR=0.7796;gnomAD_genome_AMR=0.7428;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.9350;gnomAD_genome_FIN=0.6282;gnomAD_genome_NFE=0.5638;gnomAD_genome_OTH=0.6235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-865.222,0,-907.386:1034:509:508:14129:14599 . . 0/1:-575.265,0,-682.38:736:374:330:9278:10604 1/1:-2603.08,-305.079,0:1169:15:1117:31672:421 0/1:-1275.35,0,-1275.91:1487:707:734:20384:20422 1/1:-2216.13,-276.417,0:1006:9:966:26742:235 1/1:-2640.83,-309.838,0:1212:22:1158:32076:524 0/1:-883.46,0,-984.229:1069:532:507:14124:15406 1/1:-2803.64,-358.672,0:1278:6:1229:33670:156 0/1:-796.988,0,-941.462:1031:523:476:13334:15012 1/1:-2238.93,-271.996,0:1006:13:968:26728:270 0/1:-825.933,0,-987.62:1045:522:496:13615:15338 1/1:-2086.67,-259.233,0:929:8:900:25143:179 0/1:-888.143,0,-893.569:1019:488:495:13985:14291 . 1/1:-1959.23,-249.909,0:890:6:863:23714:137 0/1:-1774.25,0,-1982.62:2134:1058:1008:28660:31022 0/1:-909.021,0,-839.676:995:458:511:14222:13354 1/1:-1758.7,-224.754,0:796:5:774:21324:110 0/1:-610.149,0,-790.489:788:414:361:10010:12256 1/1:-2577.88,-313.995,0:1129:10:1094:30624:213 0/1:-568.363,0,-642.238:730:361:340:9354:10389 1/1:-3110.73,-384.539,0:1360:7:1321:37196:209 0/1:-884.133,0,-1071.08:1191:604:553:14901:17052 1/1:-1928.27,-258.701,0:913:3:874:23540:60 0/1:-960.571,0,-1056.38:1146:557:558:15571:16574 0/1:-959.619,0,-817.774:1006:454:529:14925:13128 1/1:-1912.14,-238.814,0:863:6:837:23341:181 0/1:-731.856,0,-744.004:857:412:414:11634:11849 0/1:-660.495,0,-905.741:912:490:398:10926:13990 0/1:-1111.5,0,-1185.83:1323:652:636:17778:18927 1/1:-2608.27,-319.151,0:1184:11:1141:31268:313 1/1:-2589.96,-326.651,0:1182:9:1135:31198:228 0/1:-1025.51,0,-1005.29:1161:553:578:16175:15870 1/1:-2899.02,-362.294,0:1316:10:1260:34946:236 1/1:-3362.09,-414.111,0:1515:13:1450:40665:350 0/1:-948.544,0,-1062.33:1142:572:529:15183:16464 1/1:-2235.9,-275.626,0:1044:15:998:27506:332 0/1:-546.952,0,-705.162:752:384:335:9176:11053 0/1:-1100,0,-1197.17:1326:648:626:17506:18755 1/1:-2425.72,-304.574,0:1096:7:1057:29108:178 0/1:-956.612,0,-831.833:1069:488:546:15365:13670 . 0/1:-1109.74,0,-1270.61:1398:694:650:18046:19934 0/1:-841.491,0,-1141.11:1157:614:503:14088:17681 0/1:-994.494,0,-948.101:1175:547:586:15994:15714 0/1:-561.926,0,-639.611:663:343:307:9002:9724 1/1:-1626.91,-195.001,0:749:11:720:19695:310 . 0/1:-914.818,0,-1272.93:1247:672:548:15084:19402 0/1:-1010.11,0,-960.8:1219:574:610:16547:16152 . 1/1:-3041.9,-364.392,0:1356:13:1306:36476:397 1/1:-1655.17,-214.804,0:788:7:754:20293:199 . 1/1:-2620.97,-332.763,0:1155:4:1121:31401:78 . 0/1:-532.218,0,-783.715:798:430:336:9179:12166 . 0/1:-637.689,0,-614.545:760:356:370:10445:10223 0/1:-1244.04,0,-1251.43:1464:704:709:20029:20204 1/1:-2010.45,-242.991,0:906:9:873:24314:254 0/1:-542.243,0,-803.357:811:444:344:9384:12627 1/1:-2794.46,-344.298,0:1251:14:1215:33825:324 1/1:-2526.84,-321.677,0:1115:6:1084:30057:115 1/1:-1366.09,-174.384,0:641:4:609:16647:123 . 0/1:-824.659,0,-946.244:1050:524:497:13493:14984 1/1:-2511.93,-313.959,0:1142:13:1106:30378:287 0/1:-967.383,0,-965.645:1117:531:557:15305:15543 0/1:-1050.07,0,-1420.02:1385:737:612:17159:21633 0/1:-1067.88,0,-1272.95:1331:674:621:17148:19639 0/1:-379.816,0,-567.289:671:346:297:7408:9251 0/1:-792.228,0,-866.862:936:470:438:12521:13509 1/1:-2606.32,-321.364,0:1203:14:1147:31878:350 0/1:-1159.82,0,-1230.35:1362:667:656:18473:19521 0/1:-1273.9,0,-1213.05:1424:674:705:20229:19500 0/1:-664.476,0,-722.121:802:386:393:10986:11247 1/1:-1251.49,-141.831,0:609:22:563:15388:508 0/1:-963.51,0,-1157.27:1242:634:570:15685:18032 0/1:-1117.48,0,-1393.03:1446:737:658:18491:21559 1/1:-2646.5,-319.124,0:1225:17:1165:32249:431 1/1:-1978.55,-228.371,0:934:20:880:24257:513 1/1:-2414.54,-301.271,0:1094:9:1057:29447:264 0/1:-899.503,0,-724.638:958:420:499:14023:11950 0/1:-777.691,0,-675.866:863:385:453:12165:11131 . 1/1:-1339.26,-172.662,0:594:1:582:16186:32 1/1:-2595.22,-327.467,0:1165:7:1124:31174:182 0/1:-1244.88,0,-1246.72:1426:686:705:20024:19952 0/1:-904.411,0,-934.224:1090:526:540:14859:15196 0/1:-1159.04,0,-1468.84:1535:795:688:19110:22680 . 0/1:-1013.83,0,-1262.03:1321:690:595:16800:19800 . . 1/1:-2842.63,-293.487,0:1094:13:1067:33359:373:13,1067 1/1:-3326.85,-341.747,0:1263:13:1236:38901:395:13,1236 1/1:-1868.63,-189.594,0:731:12:713:22117:338:12,713 0/1:-1170.91,0,-1124.8:1115:534:569:17493:16753:534,569 0/1:-1345.68,0,-1255:1245:602:628:19809:18851:602,628 0/1:-1095.69,0,-1182.23:1111:558:532:16521:17581:558,532 0/1:-1198.25,0,-1224.95:1148:577:563:18002:18167:577,563 1/1:-2563.43,-259.333,0:1003:15:978:30269:466:15,978 0/1:-1013.04,0,-2477.07:1694:1105:565:17657:34458:1105,565 1/1:-3172.36,-332.548,0:1220:12:1189:37067:358:12,1189 0/1:-980.134,0,-1093.65:1009:522:473:14835:16025:522,473 1/1:-2465.96,-267.952,0:947:4:928:29028:144:4,928 1/1:-2426.09,-260.663,0:920:5:907:28497:158:5,907 1/1:-3109.76,-316.83,0:1203:15:1175:36711:470:15,1175 0/1:-1022.54,0,-1258.44:1122:600:505:15806:18494:600,505 0/1:-1311.55,0,-1305.59:1279:629:628:19567:19482:629,628 0/1:-982.129,0,-1200.96:1044:557:475:15012:17420:557,475 0/1:-1040.84,0,-1047.93:1001:498:492:15621:15706:498,492 . chr22 19906370 . G A 1515.39 . AB=0.39267;ABP=22.1215;AC=7;AF=0.5;AN=12;AO=75;CIGAR=1X;DP=1459;DPB=191;DPRA=0;EPP=3.73412;EPPR=36.4988;GTI=0;LEN=1;MEANALT=3;MQM=35.04;MQMR=38.0459;NS=1;NUMALT=1;ODDS=188.873;PAIRED=0.92;PAIREDR=0.880734;PAO=0;PQA=0;PQR=0;PRO=0;QA=1874;QR=3497;RO=109;RPL=40;RPP=3.73412;RPPR=5.42083;RPR=35;RUN=1;SAF=47;SAP=13.4623;SAR=28;SF=0;SRF=70;SRP=22.1551;SRR=39;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0220;esp6500siv2_ea=0.0297;esp6500siv2_all=0.0220;esp6500siv2_ea=0.0297;1000g2015aug_all=0.0297524;avsnp147=rs9606178;Kaviar_AF=0.0298573;Kaviar_AC=4616;Kaviar_AN=154602;ExAC_ALL=0.0310;ExAC_AFR=0.0059;ExAC_AMR=0.0465;ExAC_EAS=0.0122;ExAC_FIN=0.0064;ExAC_NFE=0.0248;ExAC_OTH=0.0213;ExAC_SAS=0.0791;CLNALLELEID=379819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1680;dpsi_zscore=-0.621;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0319;gnomAD_exome_AFR=0.0059;gnomAD_exome_AMR=0.0460;gnomAD_exome_ASJ=0.0114;gnomAD_exome_EAS=0.0122;gnomAD_exome_FIN=0.0062;gnomAD_exome_NFE=0.0276;gnomAD_exome_OTH=0.0233;gnomAD_exome_SAS=0.0774;gnomAD_genome_ALL=0.0157;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0117;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0226;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-90.9188,0,-237.156:191:109:75:1874:3497 . . . . . . . . . . . . 1/1:-321.192,-38.8051,0:200:10:176:4430:219 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-158.798,0,-348.183:321:187:121:3051:5482 . . . . . . . . . . . . . . . . . . . 0/1:-85.6473,0,-212.913:185:107:69:1750:3266 . 0/1:-139.213,0,-244.114:237:127:100:2550:3860 . . . . . . . . . . . . . 0/1:-168.127,0,-385.3:325:183:127:3247:5685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19906511 . G A 1754.05 . AB=0.5;ABP=3.0103;AC=40;AF=0.5;AN=72;AO=76;CIGAR=1X;DP=7266;DPB=152;DPRA=0;EPP=4.83891;EPPR=9.70319;GTI=0;LEN=1;MEANALT=2;MQM=34.6579;MQMR=33.4795;NS=1;NUMALT=1;ODDS=247.393;PAIRED=0.855263;PAIREDR=0.931507;PAO=0;PQA=0;PQR=0;PRO=0;QA=2042;QR=2210;RO=73;RPL=42;RPP=4.83891;RPPR=18.746;RPR=34;RUN=1;SAF=22;SAP=32.268;SAR=54;SF=0,1;SRF=23;SRP=24.6953;SRR=50;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon4:c.C246T:p.L82L;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2113;esp6500siv2_ea=0.1476;esp6500siv2_all=0.2113;esp6500siv2_ea=0.1476;1000g2015aug_all=0.168131;avsnp147=rs11541479;Kaviar_AF=0.141783;Kaviar_AC=21920;Kaviar_AN=154602;ExAC_ALL=0.1463;ExAC_AFR=0.3763;ExAC_AMR=0.0842;ExAC_EAS=0.0126;ExAC_FIN=0.1250;ExAC_NFE=0.1510;ExAC_OTH=0.1578;ExAC_SAS=0.1154;CLNALLELEID=259140;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2325;dpsi_zscore=-0.746;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1355;gnomAD_exome_AFR=0.3716;gnomAD_exome_AMR=0.0831;gnomAD_exome_ASJ=0.1627;gnomAD_exome_EAS=0.0116;gnomAD_exome_FIN=0.1131;gnomAD_exome_NFE=0.1457;gnomAD_exome_OTH=0.1472;gnomAD_exome_SAS=0.1135;gnomAD_genome_ALL=0.1985;gnomAD_genome_AFR=0.3737;gnomAD_genome_AMR=0.0885;gnomAD_genome_ASJ=0.1457;gnomAD_genome_EAS=0.0100;gnomAD_genome_FIN=0.1289;gnomAD_genome_NFE=0.1431;gnomAD_genome_OTH=0.1612;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-118.97,0,-118.166:152:73:76:2042:2210 . . . . . . . . . . 0/1:-122.747,0,-155.517:185:89:89:2259:2699 . 0/1:-99.1558,0,-193.006:170:101:66:1833:3050 . 0/1:-125.132,0,-170.246:174:88:81:2155:2747 . . 1/1:-450.012,-53.8905,0:229:5:212:5940:130 . . 0/1:-183.844,0,-200.49:234:112:111:3154:3467 0/1:-247.563,0,-213.737:277:127:145:4009:3631 . 0/1:-211.108,0,-199.9:252:114:133:3780:3436 . . . 0/1:-119.534,0,-172.437:174:88:76:2293:2738 . . 0/1:-163.992,0,-157.682:202:102:93:2804:2940 . . . . 0/1:-222.924,0,-212.327:255:119:123:3586:3522 . . . 0/1:-86.4184,0,-134.947:136:74:59:1650:2144 . 0/1:-173.893,0,-172.21:226:103:113:3232:3050 . . . . . 0/1:-110.801,0,-213.648:200:112:79:2201:3386 . 1/1:-483.4,-48.2983,0:259:12:229:6590:281 . 0/1:-72.1547,0,-127.988:122:67:51:1487:2027 . . 0/1:-186.995,0,-173.37:213:99:109:3142:3099 . 0/1:-206.617,0,-230.144:246:121:119:3569:3735 0/1:-226.921,0,-216.795:265:124:136:3822:3733 . . 0/1:-229.792,0,-178.39:254:110:135:3901:3223 . 0/1:-176.89,0,-188.221:235:114:111:3058:3371 0/1:-102.393,0,-106.099:135:64:67:1821:1850 1/1:-249.174,-24.5135,0:128:5:118:3422:141 0/1:-145.971,0,-210.209:223:116:99:2594:3509 0/1:-150.63,0,-182.138:218:110:99:2781:3336 . 0/1:-170.154,0,-179.399:222:106:108:2921:3102 . . . . . 0/1:-152.125,0,-182.098:209:106:100:2670:3041 0/1:-180.401,0,-234.049:268:140:119:3256:3932 . . . . . . . . . . . . . 0/1:-161.836,0,-231.847:187:105:80:2557:3354:105,80 . 0/1:-189.493,0,-235.911:209:112:92:2886:3494:112,92 0/1:-161.91,0,-168.344:159:79:77:2443:2491:79,77 0/1:-166.25,0,-172.495:158:80:78:2504:2570:80,78 1/1:-386.132,-44.2514,0:148:0:147:4529:0:0,147 0/1:-176.154,0,-204.807:182:96:83:2686:2985:96,83 . 0/1:-239.622,0,-226.302:218:105:111:3580:3403:105,111 0/1:-164.905,0,-126.327:142:60:81:2456:1946:60,81 . . chr22 19907099 . C A 16576.95 . AB=0.432022;ABP=61.1695;AC=88;AF=0.5;AN=138;AO=626;CIGAR=1X;DP=123876;DPB=1449;DPRA=0;EPP=43.4705;EPPR=133.406;GTI=0;LEN=1;MEANALT=3;MQM=31.2508;MQMR=34.1514;NS=1;NUMALT=1;ODDS=1754.76;PAIRED=0.886581;PAIREDR=0.894541;PAO=0;PQA=0;PQR=0;PRO=0;QA=16031;QR=23496;RO=806;RPL=236;RPP=85.2765;RPPR=108.631;RPR=390;RUN=1;SAF=307;SAP=3.50981;SAR=319;SF=0,1;SRF=419;SRP=5.76909;SRR=387;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.G196T:p.A66S;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2956;esp6500siv2_ea=0.3312;esp6500siv2_all=0.2956;esp6500siv2_ea=0.3312;1000g2015aug_all=0.483027;avsnp147=rs5748469;Kaviar_AF=0.309356;Kaviar_AC=47827;Kaviar_AN=154602;ExAC_ALL=0.4445;ExAC_AFR=0.2673;ExAC_AMR=0.5702;ExAC_EAS=0.7942;ExAC_FIN=0.4653;ExAC_NFE=0.4078;ExAC_OTH=0.5167;ExAC_SAS=0.4973;CLNALLELEID=259137;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=4.24;MutationAssessor_pred=H;FATHMM_score=0.7;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.194;CADD_raw=6.178;CADD_phred=28.6;DANN_score=0.996;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.955;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.96;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.028;phastCons20way_mammalian=0.975;SiPhy_29way_logOdds=15.975;GDI_full_10282015=.;dpsi_max_tissue=-0.5891;dpsi_zscore=-1.176;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4468;gnomAD_exome_AFR=0.2220;gnomAD_exome_AMR=0.6137;gnomAD_exome_ASJ=0.4187;gnomAD_exome_EAS=0.8557;gnomAD_exome_FIN=0.4735;gnomAD_exome_NFE=0.3327;gnomAD_exome_OTH=0.4239;gnomAD_exome_SAS=0.5044;gnomAD_genome_ALL=0.3842;gnomAD_genome_AFR=0.2403;gnomAD_genome_AMR=0.6127;gnomAD_genome_ASJ=0.4536;gnomAD_genome_EAS=0.8759;gnomAD_genome_FIN=0.4773;gnomAD_genome_NFE=0.3772;gnomAD_genome_OTH=0.4131;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-786.88,0,-1400.57:1449:806:626:16031:23496 . . . 0/1:-1194.79,0,-1486.56:1795:901:867:23508:26887 0/1:-1450.91,0,-2621.23:2637:1480:1128:30116:43618 1/1:-2539.95,-245.831,0:1557:140:1384:36564:2925 1/1:-3514.88,-353.353,0:2081:170:1875:49807:3521 . 1/1:-3184.27,-331.004,0:1955:176:1747:45649:3335 0/1:-943.597,0,-1590.73:1656:901:738:19305:26415 1/1:-2888.3,-285.403,0:1676:150:1502:40257:2711 0/1:-968.446,0,-1725.59:1780:989:765:20097:29226 1/1:-2271.62,-214.675,0:1437:163:1248:33221:2985 . . . 0/1:-2466.18,0,-3848.78:3983:2134:1794:48169:64113 0/1:-1170.75,0,-1538.84:1795:906:860:22222:26596 1/1:-2333.21,-258.896,0:1381:107:1244:32875:1948 0/1:-712.742,0,-1371.21:1327:746:562:14716:22315 1/1:-3131.45,-344.691,0:1852:150:1673:43428:2765 0/1:-621.332,0,-943.463:1051:546:494:12698:16241 1/1:-3872.34,-384.413,0:2288:198:2047:54458:3781 0/1:-1217.29,0,-2293.4:2231:1254:943:24631:37404 . 0/1:-1190.89,0,-1912.82:1956:1071:858:22813:31761 . 1/1:-2015.03,-222.694,0:1301:118:1147:29588:2234 . 0/1:-850.668,0,-1371.45:1418:758:640:16972:23138 0/1:-1205.66,0,-2094.56:2091:1150:911:24293:34786 . 1/1:-3241.52,-321.814,0:2021:189:1787:47136:3537 0/1:-1160.38,0,-1800.09:1876:1005:839:22220:29814 0/1:-1182.48,0,-1673.57:2000:1062:908:23065:31279 0/1:-1649.01,0,-2033.46:2526:1290:1198:31579:38167 0/1:-989.209,0,-1412.35:1532:807:704:18969:23507 0/1:-1127.5,0,-1428.05:1759:924:819:21401:27394 0/1:-935.445,0,-1288.55:1367:711:644:17323:21448 . 1/1:-2963.49,-313.804,0:1828:172:1614:42422:3196 . . 0/1:-1287.9,0,-2243.85:2282:1270:982:26231:37770 . 0/1:-1196.51,0,-1672.83:1907:1002:885:23214:29284 0/1:-667.088,0,-883.883:986:500:468:12186:14832 1/1:-2649.65,-278.706,0:1519:120:1371:37008:2286 . . . . 1/1:-3870.4,-387.889,0:2400:216:2139:55487:4031 0/1:-778.732,0,-1071.16:1323:700:609:15722:20730 . 0/1:-1284.18,0,-1833.14:2055:1087:938:24905:32463 . 0/1:-788.564,0,-1289.17:1362:741:600:15404:21875 . . 0/1:-1470.06,0,-2327.99:2420:1303:1078:28674:38645 . 0/1:-598.678,0,-1169.49:1227:675:534:13384:20060 . 1/1:-3250.32,-319.085,0:1900:166:1703:45542:3188 0/1:-610.225,0,-740.106:1054:535:499:12684:15649 . 0/1:-974.098,0,-1622.74:1700:936:737:19447:27615 0/1:-1030.53,0,-1610.7:1838:1015:792:20957:29834 . . . 0/1:-634.732,0,-982.722:1228:651:566:14317:18622 0/1:-886.775,0,-1377.67:1458:782:664:17650:23304 0/1:-1286.59,0,-1920:2252:1204:1008:26269:35364 . . . . . . 1/1:-3604.51,-390.988,0:2133:176:1914:50461:3154 0/1:-1095.69,0,-1380.9:1689:869:802:21026:25854 1/1:-2653.11,-236.422,0:1679:186:1470:39146:3614 0/1:-987.253,0,-1641.47:1708:935:747:19366:27652 . . 1/1:-1583.54,-176.771,0:947:71:858:22501:1295 0/1:-1012.89,0,-1224.3:1572:795:761:19783:23583 . 0/1:-1087.1,0,-1759.14:1815:1002:793:21113:29723 0/1:-1476.63,0,-2360.24:2417:1318:1075:28738:39490 . 0/1:-1241.79,0,-2116.2:2189:1191:967:24988:35466 . . 0/1:-1682.75,0,-1982.45:1841:934:901:26744:29799:934,901 1/1:-4475.8,-390.356,0:1980:106:1860:55375:2289:106,1860 1/1:-2512.23,-186.17,0:1179:89:1075:31817:1915:89,1075 0/1:-1604.06,0,-1793.16:1725:850:863:25186:26832:850,863 0/1:-1739.01,0,-2181.52:1997:1041:949:27793:32625:1041,949 0/1:-1471.56,0,-2022.28:1743:933:805:23577:29872:933,805 0/1:-1787.93,0,-2100.48:1997:1010:977:28466:31505:1010,977 0/1:-1705.78,0,-1777.52:1792:895:891:26552:27885:895,891 . 0/1:-1813.78,0,-2158.08:1996:1045:939:28469:33058:1045,939 . 0/1:-1485.78,0,-1935.5:1766:938:819:24157:29772:938,819 . 0/1:-1709.64,0,-2056.69:1983:1031:940:27412:32003:1031,940 0/1:-1378.31,0,-1896.94:1703:913:783:22679:28497:913,783 . . 0/1:-1305.57,0,-1714.47:1508:798:702:20698:25352:798,702 . chr22 19907118 . G A 19560.24 . AB=0.410526;ABP=108.704;AC=128;AF=0.5;AN=182;AO=624;CIGAR=1X;DP=171678;DPB=1520;DPRA=0;EPP=46.6625;EPPR=99.571;GTI=0;LEN=1;MEANALT=3;MQM=31.4167;MQMR=34.7147;NS=1;NUMALT=1;ODDS=1821.2;PAIRED=0.886218;PAIREDR=0.888175;PAO=0;PQA=0;PQR=0;PRO=0;QA=16061;QR=22662;RO=778;RPL=254;RPP=49.8362;RPPR=79.9217;RPR=370;RUN=1;SAF=292;SAP=8.57818;SAR=332;SF=0,1;SRF=380;SRP=3.91461;SRR=398;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.C177T:p.A59A;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.4538;esp6500siv2_ea=0.4793;esp6500siv2_all=0.4538;esp6500siv2_ea=0.4793;1000g2015aug_all=0.596845;avsnp147=rs5748470;Kaviar_AF=0.414833;Kaviar_AC=64134;Kaviar_AN=154602;ExAC_ALL=0.5649;ExAC_AFR=0.4302;ExAC_AMR=0.6263;ExAC_EAS=0.8092;ExAC_FIN=0.5712;ExAC_NFE=0.5426;ExAC_OTH=0.6339;ExAC_SAS=0.6157;CLNALLELEID=259134;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5922;dpsi_zscore=-1.179;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5712;gnomAD_exome_AFR=0.3910;gnomAD_exome_AMR=0.6922;gnomAD_exome_ASJ=0.5833;gnomAD_exome_EAS=0.8687;gnomAD_exome_FIN=0.5855;gnomAD_exome_NFE=0.4826;gnomAD_exome_OTH=0.5656;gnomAD_exome_SAS=0.6204;gnomAD_genome_ALL=0.5249;gnomAD_genome_AFR=0.4119;gnomAD_genome_AMR=0.6899;gnomAD_genome_ASJ=0.5993;gnomAD_genome_EAS=0.8856;gnomAD_genome_FIN=0.6070;gnomAD_genome_NFE=0.5193;gnomAD_genome_OTH=0.5626;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-811.714,0,-1354.36:1520:778:624:16061:22662 . . . 0/1:-1124.41,0,-1368.63:1858:846:855:22318:24663 0/1:-1495.06,0,-2490.86:2803:1448:1180:30246:41844 1/1:-2652.29,-361.89,0:1632:38:1433:36459:1046 1/1:-3510.21,-480.257,0:2161:51:1857:47977:1322 . 1/1:-3369.77,-497.896,0:2066:34:1795:45233:768 0/1:-923.445,0,-1542.18:1710:864:747:18706:25801 1/1:-3012.02,-427.419,0:1727:23:1517:39159:479 0/1:-982.873,0,-1649.18:1850:941:764:19492:27574 1/1:-2494.03,-385.765,0:1493:13:1322:33639:239 0/1:-816.016,0,-1269.61:1476:758:615:15728:21444 . . 0/1:-2407.42,0,-3483.11:4136:2034:1812:46977:58634 0/1:-1168.35,0,-1448.02:1863:868:858:21781:24813 1/1:-2389.39,-355.738,0:1413:17:1249:32054:382 0/1:-698.13,0,-1261.1:1364:707:561:14272:20600 1/1:-3403.93,-502.507,0:1999:18:1747:45125:438 0/1:-604.494,0,-865.999:1106:522:485:12459:15013 1/1:-4009.7,-585.974,0:2369:28:2070:52712:660 0/1:-1218.95,0,-2181.7:2355:1218:959:24796:35647 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0/1:-1261.4,0,-1882.19:2254:1109:1002:25293:32214 0/1:-643.518,0,-1174.38:1283:660:527:13217:19175 1/1:-1677,-230.157,0:1025:24:875:22487:610 0/1:-1112.5,0,-1740.23:2076:1032:883:22310:29868 0/1:-1218.82,0,-1824.48:2277:1115:988:24644:31964 1/1:-3628.59,-527.029,0:2150:27:1882:48134:727 1/1:-2898.54,-413.743,0:1737:26:1518:38866:647 1/1:-2675.84,-394.691,0:1727:30:1476:36505:750 0/1:-1009.11,0,-1537.78:1791:905:768:19346:26044 . . 1/1:-1575.22,-239.797,0:954:10:838:21250:188 1/1:-2667.85,-388.908,0:1639:21:1414:35972:590 0/1:-1314.94,0,-2429.91:2603:1386:1064:26829:40397 0/1:-994.349,0,-1687.4:1892:978:769:19664:28162 0/1:-1423.21,0,-2170.46:2513:1257:1083:27806:37080 . 0/1:-1209.19,0,-1965.26:2234:1115:959:24015:33063 . . 0/1:-1614.9,0,-1886.58:1972:945:943:26046:28843:945,943 1/1:-4435.5,-501.904,0:2085:40:1937:53346:1076:40,1937 1/1:-2660.71,-293.541,0:1292:26:1159:32005:733:26,1159 0/1:-1571.61,0,-1782.74:1871:867:916:25039:26910:867,916 0/1:-1696.89,0,-2099.01:2119:1035:982:27293:31768:1035,982 0/1:-1475.92,0,-1834.63:1830:906:844:23598:27645:906,844 0/1:-1619.73,0,-2084.44:2097:1036:966:26243:31329:1036,966 1/1:-4147.54,-498.609,0:1954:22:1794:49664:550:22,1794 . 1/1:-4661.18,-555.224,0:2155:21:1980:55291:578:21,1980 0/1:-1240.18,0,-1519.28:1546:755:728:19907:22762:755,728 1/1:-4063.82,-495.071,0:1897:16:1754:48587:434:16,1754 1/1:-3866.33,-462.945,0:1804:19:1655:45896:512:19,1655 1/1:-4441.73,-517.614,0:2118:32:1923:53761:887:32,1923 0/1:-1343.22,0,-1786.47:1763:895:793:22082:27077:895,793 0/1:-1496.51,0,-1824.43:1894:917:886:24366:27663:917,886 0/1:-1275.86,0,-1820.37:1752:889:776:21369:26937:889,776 0/1:-1239.31,0,-1678.66:1598:811:726:19997:24840:811,726 . chr22 19907192 . A G 21206.27 . AB=0.46249;ABP=17.8347;AC=142;AF=0.5;AN=200;AO=561;CIGAR=1X;DP=163440;DPB=1213;DPRA=0;EPP=13.078;EPPR=11.0183;GTI=0;LEN=1;MEANALT=3;MQM=30.893;MQMR=34.8915;NS=1;NUMALT=1;ODDS=1822.71;PAIRED=0.868093;PAIREDR=0.889816;PAO=0;PQA=0;PQR=0;PRO=0;QA=16412;QR=16903;RO=599;RPL=423;RPP=317.409;RPPR=371.91;RPR=138;RUN=1;SAF=187;SAP=138.365;SAR=374;SF=0,1;SRF=200;SRP=146.57;SRR=399;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.6290;esp6500siv2_ea=0.5575;esp6500siv2_all=0.6290;esp6500siv2_ea=0.5575;1000g2015aug_all=0.754393;avsnp147=rs5748471;Kaviar_AF=0.106415;Kaviar_AC=16452;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3834;dpsi_zscore=-0.963;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6644;gnomAD_genome_AFR=0.7974;gnomAD_genome_AMR=0.7470;gnomAD_genome_ASJ=0.6567;gnomAD_genome_EAS=0.9361;gnomAD_genome_FIN=0.6278;gnomAD_genome_NFE=0.5641;gnomAD_genome_OTH=0.6217;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-846.884,0,-969.173:1213:599:561:16412:16903 . . 0/1:-741.553,0,-799.374:999:486:462:13132:13847 1/1:-2981.11,-389.261,0:1518:28:1445:40902:730 0/1:-1651.83,0,-1828.25:2382:1139:1109:31971:31935 1/1:-2911.72,-377.755,0:1432:22:1375:39920:543 1/1:-3785.2,-501.732,0:1867:27:1795:52115:651 0/1:-1151.74,0,-1228.74:1586:767:738:21130:21193 1/1:-3630.45,-493.31,0:1792:24:1730:49925:476 0/1:-1087.49,0,-1025:1489:677:730:20547:18608 1/1:-3180.23,-421.488,0:1532:15:1478:42395:384 0/1:-1177.89,0,-1121.56:1565:709:778:22018:19749 1/1:-2516.21,-360.77,0:1273:7:1235:35801:204 0/1:-902.579,0,-943.005:1267:592:606:17200:16258 . 1/1:-2481.07,-344.634,0:1206:8:1169:33092:130 0/1:-2810.06,0,-2682.5:3644:1684:1774:51870:47093 0/1:-1300.31,0,-1127.76:1576:720:797:23414:20242 1/1:-2362.99,-331.161,0:1167:11:1130:32619:203 0/1:-873.896,0,-924.92:1196:575:570:16347:15955 1/1:-3670.21,-494.261,0:1741:14:1692:49553:280 0/1:-714.772,0,-576.496:961:407:504:14017:11078 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0/1:-1356.22,0,-1500.17:1969:960:916:26243:26639 0/1:-1277.1,0,-1278.12:1737:799:866:24139:22605 0/1:-1324.67,0,-1122.93:1669:728:859:24137:20623 0/1:-754.828,0,-605.406:903:396:473:13637:10885 1/1:-2582.54,-345.087,0:1280:21:1221:34746:498 . 0/1:-1376.08,0,-1319.18:1859:873:895:25580:24161 0/1:-1195.46,0,-1146.56:1655:761:799:22288:20913 . 1/1:-4396.02,-592.406,0:2195:31:2104:59848:710 1/1:-2316.53,-340.927,0:1215:12:1159:32577:203 . 1/1:-3682.15,-501.796,0:1808:15:1751:49845:376 . 0/1:-863.233,0,-977.309:1251:609:574:16207:17140 . 0/1:-746.634,0,-780.929:1075:517:502:14027:14281 0/1:-1662.48,0,-1526.59:2074:949:1037:30319:26846 1/1:-3524.78,-474.766,0:1691:13:1643:46185:299 0/1:-786.1,0,-860.142:1157:561:536:15236:15479 1/1:-3793.81,-506.943,0:1915:26:1832:52723:644 1/1:-3697.82,-483.695,0:1778:20:1716:49603:474 1/1:-1821.22,-259.178,0:955:14:913:25876:333 . 0/1:-1117.16,0,-1233.17:1631:781:763:21520:21554 1/1:-3439.17,-459.759,0:1712:23:1649:47237:542 0/1:-1250.56,0,-1328.19:1744:850:806:22917:23163 0/1:-1706.13,0,-1573.09:2201:992:1114:31388:27977 0/1:-1287.83,0,-1541.72:1942:956:897:25191:26562 0/1:-699.807,0,-725.045:1195:539:582:15241:14609 0/1:-872.326,0,-1008.94:1263:617:584:16642:17232 1/1:-4192.87,-581.061,0:2078:17:2005:57251:356 0/1:-1415.01,0,-1497.93:1923:924:904:25893:25578 0/1:-1400.04,0,-1284.25:1851:830:946:26657:23051 0/1:-853.639,0,-879.3:1142:539:558:16021:14961 1/1:-1658.54,-214.987,0:849:18:800:22876:465 0/1:-1335.38,0,-1268.11:1814:826:894:25887:22640 0/1:-1595.12,0,-1160.81:1950:814:1049:29831:22283 1/1:-3862.76,-529.144,0:1916:20:1843:52654:418 1/1:-3167.7,-434.066,0:1574:20:1521:43103:417 1/1:-3101.73,-433.752,0:1571:15:1511:42853:308 0/1:-1202.16,0,-1122.95:1544:702:753:22055:19493 0/1:-883.585,0,-686.432:1079:475:560:15769:13137 . 1/1:-1856.92,-251.606,0:904:10:874:25033:214 1/1:-2871.51,-397.791,0:1426:12:1383:39744:304 0/1:-1533.96,0,-1701.22:2183:1054:1020:29018:29371 0/1:-1252.47,0,-1197.67:1661:790:788:22933:21688 0/1:-1495.62,0,-1646.14:2089:1006:979:27949:28732 . 0/1:-1375,0,-1447.65:1934:919:924:26086:25913 . . 1/1:-4551.73,-505.177,0:1802:13:1760:54361:335:13,1760 1/1:-4730.48,-507.561,0:1905:26:1855:56687:683:26,1855 1/1:-3194.26,-338.008,0:1291:20:1255:38416:540:20,1255 0/1:-1817.86,0,-1627.83:1770:840:901:27667:24897:840,901 0/1:-1967.9,0,-1802.04:1920:917:968:30098:27786:917,968 0/1:-1800.37,0,-1480.18:1707:789:895:27213:23418:789,895 0/1:-2009.33,0,-1843.01:1971:934:997:30859:28146:934,997 1/1:-4507.94,-503.275,0:1827:13:1783:54243:438:13,1783 . 1/1:-4960.44,-545.687,0:1965:16:1925:59630:450:16,1925 0/1:-1463.5,0,-1145.58:1374:614:729:22390:17882:614,729 1/1:-4481.3,-503.91,0:1804:12:1766:54101:376:12,1766 1/1:-4144.94,-468.395,0:1644:9:1615:49465:230:9,1615 1/1:-4964.5,-545.203,0:2040:24:1983:60906:687:24,1983 0/1:-1738.55,0,-1478.37:1677:778:870:26791:23300:778,870 0/1:-1765.1,0,-1591.49:1782:835:918:27939:24755:835,918 0/1:-1443.39,0,-1609.55:1600:811:750:23092:24052:811,750 0/1:-1367.97,0,-1443.38:1444:730:689:21288:21850:730,689 . chr22 19929193 . C T 480.41 . AB=0.315315;ABP=35.8954;AC=1;AF=0.5;AN=2;AO=35;CIGAR=1X;DP=111;DPB=111;DPRA=0;EPP=10.5174;EPPR=4.03889;GTI=0;LEN=1;MEANALT=1;MQM=38.6857;MQMR=38.9474;NS=1;NUMALT=1;ODDS=110.618;PAIRED=0.914286;PAIREDR=0.934211;PAO=0;PQA=0;PQR=0;PRO=0;QA=1100;QR=2430;RO=76;RPL=8;RPP=25.4075;RPPR=44.2683;RPR=27;RUN=1;SAF=27;SAP=25.4075;SAR=8;SF=1;SRF=54;SRP=32.268;SRR=22;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-61.1195,0,-171.423:111:76:35:1100:2430:76,35 . . . . . . . . chr22 19929212 . A C 100.72 . AB=0.365145;ABP=41.0786;AC=1;AF=0.5;AN=2;AO=88;CIGAR=1X;DP=241;DPB=241;DPRA=0;EPP=80.3937;EPPR=4.58383;GTI=0;LEN=1;MEANALT=3;MQM=20.0909;MQMR=23.3406;NS=1;NUMALT=1;ODDS=23.1909;PAIRED=0.897727;PAIREDR=0.753623;PAO=0;PQA=0;PQR=0;PRO=0;QA=1523;QR=2952;RO=138;RPL=37;RPP=7.84676;RPPR=42.3486;RPR=51;RUN=1;SAF=53;SAP=11.0053;SAR=35;SF=0;SRF=72;SRP=3.57677;SRR=66;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-28.5076,0,-126.701:241:138:88:1523:2952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 8775589 . C T 8531.42 . AB=0.444342;ABP=32.2583;AC=18;AF=0.5;AN=34;AO=483;CIGAR=1X;DP=17503;DPB=1087;DPRA=0;EPP=4.63328;EPPR=11.411;GTI=0;LEN=1;MEANALT=3;MQM=34.6294;MQMR=35.2557;NS=1;NUMALT=1;ODDS=1705.54;PAIRED=0.902692;PAIREDR=0.921191;PAO=0;PQA=0;PQR=0;PRO=0;QA=13673;QR=17125;RO=571;RPL=160;RPP=122.459;RPPR=130.367;RPR=323;RUN=1;SAF=236;SAP=3.55429;SAR=247;SF=0,1;SRF=276;SRP=4.38316;SRR=295;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon1:c.C27T:p.L9L,CAV3:NM_033337:exon1:c.C27T:p.L9L;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.0915;esp6500siv2_ea=0.1248;esp6500siv2_all=0.0915;esp6500siv2_ea=0.1248;1000g2015aug_all=0.0425319;avsnp147=rs1974763;Kaviar_AF=0.0890609;Kaviar_AC=13769;Kaviar_AN=154602;ExAC_ALL=0.0873;ExAC_AFR=0.0229;ExAC_AMR=0.0442;ExAC_EAS=0.0013;ExAC_FIN=0.1121;ExAC_NFE=0.1275;ExAC_OTH=0.0761;ExAC_SAS=0.0277;CLNALLELEID=40376;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0861;gnomAD_exome_AFR=0.0212;gnomAD_exome_AMR=0.0531;gnomAD_exome_ASJ=0.0666;gnomAD_exome_EAS=0.0017;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1301;gnomAD_exome_OTH=0.0930;gnomAD_exome_SAS=0.0268;gnomAD_genome_ALL=0.0867;gnomAD_genome_AFR=0.0249;gnomAD_genome_AMR=0.0682;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.1178;gnomAD_genome_NFE=0.1246;gnomAD_genome_OTH=0.1119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-762.608,0,-1043.38:1087:571:483:13673:17125 . . 0/1:-846.268,0,-1170.93:1209:629:541:14940:19171 . . . . . . . . . . . . 0/1:-422.554,0,-719.577:699:382:296:8036:11639 . . . . . . . . . . . . 0/1:-799.804,0,-905.079:1057:517:511:13940:15577 . . . . . . . 0/1:-679.854,0,-840.688:931:468:435:12191:14087 . . . . . . . . 0/1:-951.506,0,-1063.64:1224:589:596:16346:17655 . . . . . 0/1:-810.168,0,-1189.64:1238:645:551:14851:19466 . . 0/1:-794.865,0,-980.425:1089:549:505:14068:16382 . . . 0/1:-497.999,0,-536.724:692:339:336:9339:9783 . 0/1:-835.953,0,-1069.6:1194:593:555:15022:17620 . . 0/1:-621.865,0,-815.032:888:451:412:11259:13562 . . . . . 0/1:-807.112,0,-849.397:1019:478:501:13555:14476 . . . . 0/1:-464.775,0,-455.947:553:266:271:7763:8055 . . . . . . . . . . . 0/1:-653.268,0,-970.867:991:525:438:11791:15983 . 1/1:-2351.44,-285.974,0:1188:30:1106:30197:717 . . 0/1:-1248.43,0,-1325.54:1294:626:644:19177:19698:626,644 . . . . . . . . 0/1:-1079.51,0,-1198.59:1150:576:559:16624:18207:576,559 . . . . . . . . . . chr3 8775661 . C T 9080.05 . AB=0.45487;ABP=22.8058;AC=61;AF=0.5;AN=112;AO=509;CIGAR=1X;DP=58470;DPB=1119;DPRA=0;EPP=3.35586;EPPR=5.23587;GTI=0;LEN=1;MEANALT=3;MQM=33.8782;MQMR=34.1601;NS=1;NUMALT=1;ODDS=1745.13;PAIRED=0.917485;PAIREDR=0.905694;PAO=0;PQA=0;PQR=0;PRO=0;QA=14309;QR=17228;RO=562;RPL=383;RPP=284.786;RPPR=196.882;RPR=126;RUN=1;SAF=213;SAP=32.3998;SAR=296;SF=0,1;SRF=232;SRP=40.1185;SRR=330;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon1:c.C99T:p.N33N,CAV3:NM_033337:exon1:c.C99T:p.N33N;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.3431;esp6500siv2_ea=0.2388;esp6500siv2_all=0.3431;esp6500siv2_ea=0.2388;1000g2015aug_all=0.371006;avsnp147=rs1008642;Kaviar_AF=0.292357;Kaviar_AC=45199;Kaviar_AN=154602;ExAC_ALL=0.3010;ExAC_AFR=0.5617;ExAC_AMR=0.3314;ExAC_EAS=0.3999;ExAC_FIN=0.2995;ExAC_NFE=0.2648;ExAC_OTH=0.3217;ExAC_SAS=0.2104;CLNALLELEID=40369;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2931;gnomAD_exome_AFR=0.5618;gnomAD_exome_AMR=0.3228;gnomAD_exome_ASJ=0.3015;gnomAD_exome_EAS=0.3977;gnomAD_exome_FIN=0.2869;gnomAD_exome_NFE=0.2547;gnomAD_exome_OTH=0.3024;gnomAD_exome_SAS=0.2090;gnomAD_genome_ALL=0.3597;gnomAD_genome_AFR=0.5489;gnomAD_genome_AMR=0.3365;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.41;gnomAD_genome_FIN=0.2971;gnomAD_genome_NFE=0.2666;gnomAD_genome_OTH=0.2832;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-798.871,0,-1004.99:1119:562:509:14309:17228 . 0/1:-401.698,0,-706.96:651:364:263:7307:11188 0/1:-724.103,0,-950.431:994:511:454:12736:15870 0/1:-1191.07,0,-1188.16:1355:636:678:19613:19700 . . . . . 1/1:-2133.93,-267.375,0:1018:12:962:26961:318 0/1:-753.865,0,-760.889:912:437:446:12635:13272 0/1:-536.415,0,-724.145:785:404:354:9701:12238 . 0/1:-1168.54,0,-1526.8:1580:811:724:20420:25096 0/1:-566.861,0,-656.792:762:391:350:9890:11704 0/1:-1517.99,0,-2063.5:2065:1061:959:26557:32985 0/1:-749.39,0,-1008.63:1023:521:474:13292:16173 0/1:-583.981,0,-732.331:790:397:363:10282:12059 0/1:-592.246,0,-541.558:686:317:349:9787:9613 0/1:-983.93,0,-1112.33:1251:624:587:16477:18955 . 0/1:-1076.39,0,-1250.07:1354:674:640:18198:20656 . . . 0/1:-775.161,0,-1137.68:1158:616:508:14012:18627 0/1:-515.003,0,-615.995:707:345:330:9294:10426 0/1:-554.091,0,-617.492:721:351:345:9705:10626 . . 0/1:-799.326,0,-1197.26:1148:615:506:14275:19173 0/1:-709.057,0,-890.747:971:498:451:12669:15036 0/1:-777.444,0,-1087.87:1086:568:483:13589:17477 . 1/1:-2506.56,-320.345,0:1194:13:1132:32005:304 . . 0/1:-473.278,0,-562.188:630:312:294:8233:9204 . 0/1:-684.404,0,-848.417:934:464:433:12155:14014 . . 0/1:-957.779,0,-1163.07:1279:640:596:16579:19388 0/1:-810.532,0,-855.056:1016:481:501:14284:14453 . 0/1:-417.351,0,-547.939:584:296:275:7732:9091 . 0/1:-1100.15,0,-1177.11:1337:645:647:18545:19627 . . 0/1:-1049.21,0,-1227.75:1308:633:638:17743:20115 0/1:-792.947,0,-1193.83:1185:639:505:14030:19396 . . . . 0/1:-437.137,0,-661.613:653:357:273:7589:11007 . . 0/1:-999.236,0,-1202.57:1325:648:640:17623:19853 0/1:-580.819,0,-1022.67:943:537:379:10665:16314 0/1:-474.373,0,-532.115:650:321:315:8856:9697 0/1:-947.832,0,-1355.28:1367:721:614:17316:22111 . 0/1:-335.53,0,-413.479:499:253:236:6380:7515 0/1:-795.453,0,-1026.85:1038:529:479:13561:16430 0/1:-672.722,0,-769.044:891:445:420:11538:13204 0/1:-633.786,0,-905.896:957:510:420:11758:15286 . . 0/1:-955.794,0,-1064.47:1194:573:598:16500:17577 . . . 0/1:-867.643,0,-1110.19:1181:602:534:15112:18232 0/1:-970.669,0,-1221.34:1317:655:627:17423:20091 . . 1/1:-2162.43,-277.574,0:1040:10:981:27127:246 . . . . . 0/1:-535.005,0,-781.071:783:404:346:9687:12425 . . 0/1:-603.79,0,-943.801:946:508:410:11323:15694 . . . . 1/1:-2434.24,-309.093,0:1143:13:1085:30848:261 . . 0/1:-1144.85,0,-1320.35:1232:629:583:17760:20001:629,583 . . . 0/1:-1167.76,0,-1162.81:1187:567:595:17885:17845:567,595 . 0/1:-1124.43,0,-1361.87:1252:642:593:17729:20639:642,593 0/1:-1014.44,0,-1101.07:1043:522:498:15517:16496:522,498 . 1/1:-2689.25,-290.616,0:1076:10:1052:31990:330:10,1052 0/1:-883.978,0,-1059.63:936:488:437:13653:15642:488,437 0/1:-1019.45,0,-1126.17:1049:532:507:15782:16963:532,507 . . 0/1:-1015.41,0,-1030.65:1026:505:510:15522:15745:505,510 . 0/1:-886.864,0,-963.553:924:458:448:13488:14567:458,448 . 0/1:-1149.69,0,-1325.97:1215:620:582:17811:19762:620,582 chr3 8775702 . G A 4392.20 . AB=0.414211;ABP=39.8952;AC=14;AF=0.5;AN=28;AO=239;CIGAR=1X;DP=8737;DPB=577;DPRA=0;EPP=3.23744;EPPR=12.0885;GTI=0;LEN=1;MEANALT=3;MQM=32.7615;MQMR=36.2645;NS=1;NUMALT=1;ODDS=792.822;PAIRED=0.933054;PAIREDR=0.941935;PAO=0;PQA=0;PQR=0;PRO=0;QA=7135;QR=9494;RO=310;RPL=175;RPP=114.955;RPPR=177.877;RPR=64;RUN=1;SAF=65;SAP=110.957;SAR=174;SF=0,1;SRF=81;SRP=156.442;SRR=229;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.0837;esp6500siv2_ea=0.0499;esp6500siv2_all=0.0837;esp6500siv2_ea=0.0499;1000g2015aug_all=0.076877;avsnp147=rs11922879;Kaviar_AF=0.0510925;Kaviar_AC=7899;Kaviar_AN=154602;ExAC_ALL=0.0572;ExAC_AFR=0.1690;ExAC_AMR=0.0217;ExAC_EAS=0.0029;ExAC_FIN=0.0778;ExAC_NFE=0.0556;ExAC_OTH=0.0543;ExAC_SAS=0.0424;CLNALLELEID=40383;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0500;gnomAD_exome_AFR=0.1581;gnomAD_exome_AMR=0.0231;gnomAD_exome_ASJ=0.0473;gnomAD_exome_EAS=0.0027;gnomAD_exome_FIN=0.0726;gnomAD_exome_NFE=0.0503;gnomAD_exome_OTH=0.0424;gnomAD_exome_SAS=0.0404;gnomAD_genome_ALL=0.0818;gnomAD_genome_AFR=0.1505;gnomAD_genome_AMR=0.0408;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.0702;gnomAD_genome_NFE=0.0580;gnomAD_genome_OTH=0.0556;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-375.706,0,-602.843:577:310:239:7135:9494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-305.187,0,-353.31:424:207:191:5456:6224 . 0/1:-555.286,0,-730.192:791:406:356:10055:12247 . . . . . 0/1:-480.76,0,-595.11:619:316:282:8329:9682 . . . . . . . . . . . . . . . . . . . . 0/1:-305.682,0,-369.008:403:204:189:5433:6211 . . . . . . . . . . . . . . . . 0/1:-540.734,0,-586.287:707:341:342:9706:10209 . . . . . 0/1:-472.079,0,-589.012:653:342:288:8304:10166 0/1:-582.396,0,-656.007:754:371:359:10221:11071 . . . . 0/1:-528.863,0,-564.37:659:322:321:9239:9756 0/1:-263.491,0,-377.86:375:198:167:4751:6061 . . . . . . . . . 0/1:-649.681,0,-937.072:802:438:351:10554:13746:438,351 . 0/1:-549.244,0,-533.241:546:267:271:8380:8283:267,271 0/1:-638.187,0,-680.555:679:342:323:9846:10470:342,323 . . . . . . . . 0/1:-700.431,0,-770.516:748:375:358:10953:11717:375,358 . . . . . chr3 8787220 . T C 5083.93 . AB=0.326489;ABP=257.71;AC=25;AF=0.5;AN=50;AO=318;CIGAR=1X;DP=26619;DPB=974;DPRA=0;EPP=6.31531;EPPR=127.199;GTI=0;LEN=1;MEANALT=3;MQM=17.9088;MQMR=36.7071;NS=1;NUMALT=1;ODDS=234.641;PAIRED=0.915094;PAIREDR=0.928803;PAO=0;PQA=0;PQR=0;PRO=0;QA=9155;QR=18608;RO=618;RPL=91;RPP=129.311;RPPR=51.9352;RPR=227;RUN=1;SAF=203;SAP=55.8904;SAR=115;SF=0,1;SRF=327;SRP=7.56407;SRR=291;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.T123C:p.F41F,CAV3:NM_033337:exon2:c.T123C:p.F41F;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.2556;esp6500siv2_ea=0.2410;esp6500siv2_all=0.2556;esp6500siv2_ea=0.2410;1000g2015aug_all=0.152955;avsnp147=rs13087941;Kaviar_AF=0.188866;Kaviar_AC=29199;Kaviar_AN=154602;ExAC_ALL=0.1886;ExAC_AFR=0.2890;ExAC_AMR=0.0844;ExAC_EAS=0.0059;ExAC_FIN=0.2622;ExAC_NFE=0.2372;ExAC_OTH=0.1726;ExAC_SAS=0.0671;CLNALLELEID=40377;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4904;dpsi_zscore=1.123;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1828;gnomAD_exome_AFR=0.2925;gnomAD_exome_AMR=0.1011;gnomAD_exome_ASJ=0.1519;gnomAD_exome_EAS=0.0065;gnomAD_exome_FIN=0.2614;gnomAD_exome_NFE=0.2384;gnomAD_exome_OTH=0.1849;gnomAD_exome_SAS=0.0675;gnomAD_genome_ALL=0.2411;gnomAD_genome_AFR=0.2882;gnomAD_genome_AMR=0.1158;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.0142;gnomAD_genome_FIN=0.2574;gnomAD_genome_NFE=0.2446;gnomAD_genome_OTH=0.2264;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-149.438,0,-1220.16:974:618:318:9155:18608 . . 0/1:-260.221,0,-1191.7:1048:627:394:11409:18796 . . . . . . . . . . . . 0/1:-52.1182,0,-902.664:655:462:178:5108:13829 . . . . . . . . . . 0/1:-1256.61,0,-1291.47:1496:718:744:21223:21631 . 0/1:-201.739,0,-1273.33:1019:652:338:9529:19309 . . . . . . . 0/1:-206.621,0,-1218.69:968:616:328:9069:18549 . . . . . . . . 0/1:-202.669,0,-1363.86:1101:683:387:10619:20668 . . . . . . . 0/1:-631.254,0,-798.914:855:434:389:11108:12961 0/1:-228.807,0,-1383.44:1094:693:376:10472:20498 . . . 0/1:-119.137,0,-799.789:641:409:209:5895:12209 . . . . 0/1:-233.655,0,-1216.83:987:615:354:10157:18553 0/1:-857.989,0,-1130.22:1227:622:560:15239:18441 . . . . 0/1:-151.721,0,-1140.38:844:556:271:7721:17036 0/1:-1090.28,0,-1182.88:1414:673:700:19069:20050 . . . 0/1:-141.349,0,-701.543:568:354:194:5436:10754 . 0/1:-1102.91,0,-1279.62:1422:692:691:19299:21121 . . . . . 0/1:-974.421,0,-1116.19:1316:635:638:17268:19211 0/1:-492.342,0,-572.533:650:308:319:8915:9196 . . 0/1:-231.858,0,-1063.51:895:544:324:9075:16388 . 0/1:-249.226,0,-1343.59:1100:678:393:10986:20272 . . . . 0/1:-1643.07,0,-1706.95:1586:778:793:24648:25256:778,793 . 0/1:-1247.36,0,-1292.02:1230:609:608:18789:19398:609,608 . . . . . . 0/1:-340.055,0,-1444.44:1016:641:366:11411:20387:641,366 . . 0/1:-1475.18,0,-1643.53:1505:753:726:22680:24371:753,726 . . . 0/1:-454.307,0,-1394.99:1008:608:388:12160:19665:608,388 . chr3 8787330 . C T 7605.03 . AB=0.47508;ABP=9.72022;AC=5;AF=0.5;AN=10;AO=591;CIGAR=1X;DP=5373;DPB=1244;DPRA=0;EPP=24.7948;EPPR=10.2071;GTI=0;LEN=1;MEANALT=3;MQM=33.8579;MQMR=34.1375;NS=1;NUMALT=1;ODDS=2116.84;PAIRED=0.932318;PAIREDR=0.908347;PAO=0;PQA=0;PQR=0;PRO=0;QA=16791;QR=18644;RO=611;RPL=241;RPP=46.6639;RPPR=35.0848;RPR=350;RUN=1;SAF=317;SAP=9.80396;SAR=274;SF=0,1;SRF=316;SRP=4.5776;SRR=295;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.C233T:p.T78M,CAV3:NM_033337:exon2:c.C233T:p.T78M;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0044;1000g2015aug_all=0.00199681;avsnp147=rs72546668;Kaviar_AF=0.0028395;Kaviar_AC=439;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0046;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0039;ExAC_NFE=0.0042;ExAC_OTH=0.0022;ExAC_SAS=0.0004;CLNALLELEID=23332;CLNDN=Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.738;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=-3.08;FATHMM_pred=D;PROVEAN_score=-0.83;PROVEAN_pred=N;VEST3_score=0.8;CADD_raw=4.085;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_pred=D;MetaSVM_score=0.466;MetaSVM_pred=D;MetaLR_score=0.710;MetaLR_pred=D;integrated_fitCons_score=0.428;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.869;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=16.203;GDI_full_10282015=.;dpsi_max_tissue=0.4160;dpsi_zscore=1.040;hgmdCODING=HGMD::Long_QT_syndrome#17060380;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM065052#"Long_QT_syndrome";gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0041;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0040;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0031;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0043;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-934.737,0,-1051.77:1244:611:591:16791:18644 . . . . . . . 0/1:-758.852,0,-942.979:1091:537:507:14116:16388 0/1:-599.869,0,-855.581:930:497:404:11697:15018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-794.394,0,-1181.02:1196:632:530:15215:19641 . . . . . . . . . . . . . . . . . . . . . . 0/1:-792.178,0,-1033.87:912:495:405:12733:15560:495,405 . . . . . . . . . . . . . . . . chr3 12626019 . G A 7174.82 . AB=0.44489;ABP=29.3378;AC=2;AF=0.5;AN=4;AO=444;CIGAR=1X;DP=2242;DPB=998;DPRA=0;EPP=17.2716;EPPR=20.3821;GTI=0;LEN=1;MEANALT=3;MQM=35.8626;MQMR=35.959;NS=1;NUMALT=1;ODDS=1446.14;PAIRED=0.95045;PAIREDR=0.916016;PAO=0;PQA=0;PQR=0;PRO=0;QA=11410;QR=15145;RO=512;RPL=265;RPP=39.1819;RPPR=60.0793;RPR=179;RUN=1;SAF=236;SAP=6.84461;SAR=208;SF=0;SRF=272;SRP=7.35324;SRR=240;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RAF1:NM_002880:exon17:c.C1941T:p.V647V;cytoBand=3p25.2;genomicSuperDups=.;esp6500siv2_all=0.0083;esp6500siv2_ea=0.0112;esp6500siv2_all=0.0083;esp6500siv2_ea=0.0112;1000g2015aug_all=0.00439297;avsnp147=rs3730297;Kaviar_AF=0.0073091;Kaviar_AC=1130;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0012;ExAC_AMR=0.0026;ExAC_EAS=0;ExAC_FIN=0.0074;ExAC_NFE=0.0111;ExAC_OTH=0.0066;ExAC_SAS=0.0015;CLNALLELEID=53790;CLNDN=Rasopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0076;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0071;gnomAD_exome_NFE=0.0107;gnomAD_exome_OTH=0.0084;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0066;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0095;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-642.396,0,-926.986:998:512:444:11410:15145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-825.246,0,-1092.82:1244:601:578:14290:17715 . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 12629158 . T C 10777.70 . AB=0.508254;ABP=3.69136;AC=1;AF=0.5;AN=2;AO=585;CIGAR=1X;DP=1151;DPB=1151;DPRA=0;EPP=275.617;EPPR=253.411;GTI=0;LEN=1;MEANALT=3;MQM=39.3504;MQMR=39.3137;NS=1;NUMALT=1;ODDS=2352.45;PAIRED=0.957265;PAIREDR=0.935424;PAO=0;PQA=0;PQR=0;PRO=0;QA=17333;QR=16748;RO=542;RPL=223;RPP=74.7283;RPPR=48.0263;RPR=362;RUN=1;SAF=186;SAP=171.416;SAR=399;SF=0;SRF=170;SRP=166.488;SRR=372;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs748624022;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.472e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0;ExAC_SAS=6.059e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7470;dpsi_zscore=-1.307;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1138.9,0,-1077.23:1151:542:585:17333:16748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 12633168 . A G 6541.16 . AB=0.490768;ABP=3.77211;AC=3;AF=0.5;AN=6;AO=505;CIGAR=1X;DP=2773;DPB=1029;DPRA=0;EPP=86.0895;EPPR=212.116;GTI=0;LEN=1;MEANALT=3;MQM=33.8356;MQMR=34.2556;NS=1;NUMALT=1;ODDS=1608.87;PAIRED=0.857426;PAIREDR=0.862986;PAO=0;PQA=0;PQR=0;PRO=0;QA=15064;QR=14079;RO=489;RPL=141;RPP=216.842;RPPR=239.967;RPR=364;RUN=1;SAF=359;SAP=198.095;SAR=146;SF=0;SRF=368;SRP=273.929;SRR=121;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p25.2;genomicSuperDups=.;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0119;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0119;1000g2015aug_all=0.0213658;avsnp147=rs2290161;Kaviar_AF=0.01608;Kaviar_AC=2486;Kaviar_AN=154602;ExAC_ALL=0.0158;ExAC_AFR=0.0057;ExAC_AMR=0.0343;ExAC_EAS=0.0265;ExAC_FIN=0.0112;ExAC_NFE=0.0133;ExAC_OTH=0.0201;ExAC_SAS=0.0154;CLNALLELEID=250893;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0187;dpsi_zscore=-0.096;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0169;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0365;gnomAD_exome_ASJ=0.0040;gnomAD_exome_EAS=0.0280;gnomAD_exome_FIN=0.0094;gnomAD_exome_NFE=0.0137;gnomAD_exome_OTH=0.0212;gnomAD_exome_SAS=0.0159;gnomAD_genome_ALL=0.0105;gnomAD_genome_AFR=0.0057;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0191;gnomAD_genome_FIN=0.0100;gnomAD_genome_NFE=0.0116;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-842.371,0,-781.243:1029:489:505:15064:14079 . . . . . . . . . . . . . . . . 0/1:-945.385,0,-954.647:1169:585:552:16561:17234 . . . . . . . . . . . . . . . . . . . . 0/1:-374.443,0,-420.024:575:278:273:7813:7877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 12647755 . G C 7435.21 . AB=0.518417;ABP=5.16992;AC=1;AF=0.5;AN=2;AO=380;CIGAR=1X;DP=733;DPB=733;DPRA=0;EPP=15.102;EPPR=28.866;GTI=0;LEN=1;MEANALT=3;MQM=38.5947;MQMR=39.2267;NS=1;NUMALT=1;ODDS=1572.03;PAIRED=0.978947;PAIREDR=0.956395;PAO=0;PQA=0;PQR=0;PRO=0;QA=11683;QR=10789;RO=344;RPL=122;RPP=108.704;RPPR=71.2854;RPR=258;RUN=1;SAF=197;SAP=4.13032;SAR=183;SF=0;SRF=168;SRP=3.41429;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RAF1:NM_002880:exon6:c.C625G:p.L209V;cytoBand=3p25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.534;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_pred=M;FATHMM_score=-0.89;FATHMM_pred=T;PROVEAN_score=-0.5;PROVEAN_pred=N;VEST3_score=0.337;CADD_raw=2.070;CADD_phred=16.66;DANN_score=0.960;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.683;MetaSVM_pred=T;MetaLR_score=0.300;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.11;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=11.359;GDI_full_10282015=.;dpsi_max_tissue=0.1319;dpsi_zscore=0.572;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-763.701,0,-700.288:733:344:380:11683:10789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 12647830 . G A 5076.40 . AB=0.44802;ABP=12.4917;AC=3;AF=0.5;AN=6;AO=181;CIGAR=1X;DP=1498;DPB=404;DPRA=0;EPP=6.47746;EPPR=10.0004;GTI=0;LEN=1;MEANALT=3;MQM=38.5138;MQMR=39.1571;NS=1;NUMALT=1;ODDS=792.692;PAIRED=0.977901;PAIREDR=0.980952;PAO=0;PQA=0;PQR=0;PRO=0;QA=5606;QR=6508;RO=210;RPL=97;RPP=5.03781;RPPR=4.04433;RPR=84;RUN=1;SAF=95;SAP=3.98206;SAR=86;SF=0;SRF=96;SRP=6.36057;SRR=114;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p25.2;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0042;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0042;1000g2015aug_all=0.00299521;avsnp147=rs3729927;Kaviar_AF=0.0033893;Kaviar_AC=524;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0006;ExAC_AMR=0.0053;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0045;ExAC_OTH=0.0041;ExAC_SAS=0.0091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1692;dpsi_zscore=-0.624;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0039;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0049;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=6.343e-05;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0061;gnomAD_exome_SAS=0.0092;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-352.449,0,-431.246:404:210:181:5606:6508 . . 0/1:-576.252,0,-375.03:500:204:287:8626:6276 . 0/1:-629.289,0,-515.337:594:271:309:9387:8221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 14166739 . G C 3047.51 . AB=0.464837;ABP=9.27144;AC=1;AF=0.5;AN=2;AO=271;CIGAR=1X;DP=583;DPB=583;DPRA=0;EPP=41.1593;EPPR=49.7219;GTI=0;LEN=1;MEANALT=3;MQM=29.7454;MQMR=32.7934;NS=1;NUMALT=1;ODDS=701.714;PAIRED=0.870849;PAIREDR=0.822951;PAO=0;PQA=0;PQR=0;PRO=0;QA=6932;QR=8571;RO=305;RPL=174;RPP=50.5183;RPPR=49.7219;RPR=97;RUN=1;SAF=105;SAP=32.826;SAR=166;SF=0;SRF=133;SRP=13.8392;SRR=172;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0037;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0037;1000g2015aug_all=0.00199681;avsnp147=rs202159933;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0004;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0270;ExAC_NFE=0.0054;ExAC_OTH=0;ExAC_SAS=0.0018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0196;gnomAD_exome_NFE=0.0045;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0249;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-324.247,0,-469.94:583:305:271:6932:8571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 14170981 . C T 3260.29 . AB=0.492308;ABP=3.24415;AC=1;AF=0.5;AN=2;AO=224;CIGAR=1X;DP=455;DPB=455;DPRA=0;EPP=8.59409;EPPR=5.51434;GTI=0;LEN=1;MEANALT=3;MQM=32.0312;MQMR=33.7027;NS=1;NUMALT=1;ODDS=750.708;PAIRED=0.848214;PAIREDR=0.81982;PAO=0;PQA=0;PQR=0;PRO=0;QA=6389;QR=6919;RO=222;RPL=74;RPP=59.0033;RPPR=48.2395;RPR=150;RUN=1;SAF=90;SAP=21.778;SAR=134;SF=0;SRF=100;SRP=7.7445;SRR=122;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon2:c.C82T:p.R28W;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0010;1000g2015aug_all=0.00838658;avsnp147=rs35028636;Kaviar_AF=0.0027813;Kaviar_AC=430;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0185;ExAC_AMR=0.0014;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0011;ExAC_OTH=0.0077;ExAC_SAS=0.0035;CLNALLELEID=55318;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.645;MutationAssessor_pred=M;FATHMM_score=0.82;FATHMM_pred=T;PROVEAN_score=-4.17;PROVEAN_pred=D;VEST3_score=0.551;CADD_raw=7.959;CADD_phred=35;DANN_score=0.999;fathmm-MKL_coding_score=0.898;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.423;MetaSVM_pred=T;MetaLR_score=0.204;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.04;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=17.177;GDI_full_10282015=.;dpsi_max_tissue=-0.4733;dpsi_zscore=-1.065;hgmdCODING=HGMD::Arrhythmogenic_right_ventricular_cardiomyopathy#23161701;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1211064#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0173;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0120;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0036;gnomAD_exome_SAS=0.0032;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0179;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-341.397,0,-395.54:455:222:224:6389:6919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 14172300 . C T 4772.13 . AB=0.536424;ABP=9.97052;AC=1;AF=0.5;AN=2;AO=324;CIGAR=1X;DP=604;DPB=604;DPRA=0;EPP=3.68051;EPPR=4.42721;GTI=0;LEN=1;MEANALT=3;MQM=33.1821;MQMR=35.2046;NS=1;NUMALT=1;ODDS=964.144;PAIRED=0.882716;PAIREDR=0.930502;PAO=0;PQA=0;PQR=0;PRO=0;QA=8950;QR=7925;RO=259;RPL=77;RPP=196.7;RPPR=146.889;RPR=247;RUN=1;SAF=198;SAP=37.7539;SAR=126;SF=0;SRF=170;SRP=58.0181;SRR=89;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00139776;avsnp147=rs555034992;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0045;ExAC_FIN=0;ExAC_NFE=4.523e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0448;dpsi_zscore=-0.241;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0039;gnomAD_exome_FIN=4.488e-05;gnomAD_exome_NFE=2.694e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0049;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-510.192,0,-448.417:604:259:324:8950:7925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 14172381 . C T 8508.19 . AB=0.469512;ABP=9.63064;AC=4;AF=0.5;AN=8;AO=385;CIGAR=1X;DP=4746;DPB=820;DPRA=0;EPP=3.96349;EPPR=3.93005;GTI=0;LEN=1;MEANALT=3;MQM=32.4052;MQMR=34.4461;NS=1;NUMALT=1;ODDS=1311.03;PAIRED=0.898701;PAIREDR=0.862155;PAO=0;PQA=0;PQR=0;PRO=0;QA=10693;QR=11772;RO=399;RPL=196;RPP=3.28667;RPPR=6.41173;RPR=189;RUN=1;SAF=213;SAP=12.4915;SAR=172;SF=0;SRF=230;SRP=23.261;SRR=169;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon3:c.C222T:p.P74P;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0121;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0121;1000g2015aug_all=0.00399361;avsnp147=rs34099410;Kaviar_AF=0.0084928;Kaviar_AC=1313;Kaviar_AN=154602;ExAC_ALL=0.0080;ExAC_AFR=0.0025;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0.0033;ExAC_NFE=0.0124;ExAC_OTH=0.0088;ExAC_SAS=0.0013;CLNALLELEID=55306;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1222;dpsi_zscore=0.547;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0037;gnomAD_exome_NFE=0.0137;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-578.215,0,-694.18:820:399:385:10693:11772 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1345.37,0,-1444.04:1711:837:818:23261:24936 . 0/1:-735.109,0,-977.067:1114:564:516:13936:16319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-797.308,0,-1003.66:1101:555:518:14227:16541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 14173190 . G A 6606.19 . AB=0.47335;ABP=7.87131;AC=1;AF=0.5;AN=2;AO=373;CIGAR=1X;DP=788;DPB=788;DPRA=0;EPP=105.989;EPPR=130.482;GTI=0;LEN=1;MEANALT=3;MQM=36.6917;MQMR=38.448;NS=1;NUMALT=1;ODDS=1521.13;PAIRED=0.978552;PAIREDR=0.970297;PAO=0;PQA=0;PQR=0;PRO=0;QA=11323;QR=12929;RO=404;RPL=212;RPP=18.1524;RPPR=5.16027;RPR=161;RUN=1;SAF=147;SAP=39.3432;SAR=226;SF=0;SRF=171;SRP=23.6715;SRR=233;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00119808;avsnp147=rs150859949;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0026;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.708e-05;ExAC_OTH=0.0012;ExAC_SAS=0;CLNALLELEID=141378;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0879;dpsi_zscore=-0.412;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.259e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-684.248,0,-849.461:788:404:373:11323:12929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 14174146 . T C 5439.28 . AB=0.44802;ABP=12.4917;AC=71;AF=0.5;AN=118;AO=181;CIGAR=1X;DP=30646;DPB=404;DPRA=0;EPP=14.5395;EPPR=22.8403;GTI=0;LEN=1;MEANALT=3;MQM=30.2265;MQMR=32.1368;NS=1;NUMALT=1;ODDS=588.012;PAIRED=0.966851;PAIREDR=0.943396;PAO=0;PQA=0;PQR=0;PRO=0;QA=5435;QR=6538;RO=212;RPL=73;RPP=17.7067;RPPR=9.93443;RPR=108;RUN=1;SAF=123;SAP=53.698;SAR=58;SF=0,1;SRF=125;SRP=17.8009;SRR=87;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.4616;esp6500siv2_ea=0.4069;esp6500siv2_all=0.4616;esp6500siv2_ea=0.4069;1000g2015aug_all=0.557308;avsnp147=rs4685075;Kaviar_AF=0.457271;Kaviar_AC=70695;Kaviar_AN=154602;ExAC_ALL=0.4707;ExAC_AFR=0.5780;ExAC_AMR=0.6340;ExAC_EAS=0.6742;ExAC_FIN=0.5079;ExAC_NFE=0.3973;ExAC_OTH=0.4888;ExAC_SAS=0.4639;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0941;dpsi_zscore=0.465;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4783;gnomAD_exome_AFR=0.5818;gnomAD_exome_AMR=0.6213;gnomAD_exome_ASJ=0.3761;gnomAD_exome_EAS=0.6699;gnomAD_exome_FIN=0.5103;gnomAD_exome_NFE=0.3989;gnomAD_exome_OTH=0.4447;gnomAD_exome_SAS=0.4652;gnomAD_genome_ALL=0.4893;gnomAD_genome_AFR=0.5779;gnomAD_genome_AMR=0.5955;gnomAD_genome_ASJ=0.3974;gnomAD_genome_EAS=0.6629;gnomAD_genome_FIN=0.5057;gnomAD_genome_NFE=0.4133;gnomAD_genome_OTH=0.4521;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-270.056,0,-358.602:404:212:181:5435:6538 0/1:-412.228,0,-479.826:584:293:263:7901:8611 . 0/1:-247.222,0,-302.3:346:170:161:4671:5294 . 0/1:-360.025,0,-615.763:643:350:265:7509:10649 . . 1/1:-1020.35,-109.671,0:497:14:473:13990:448 0/1:-349.678,0,-472.375:539:273:252:7386:8258 . . . 0/1:-272.112,0,-301.414:402:197:184:5529:5917 . 1/1:-1474.46,-188.314,0:693:9:669:19663:236 0/1:-246.426,0,-302.32:388:198:166:4841:5746 0/1:-886.29,0,-921.536:1080:521:528:15990:15855 . 0/1:-270.661,0,-290.658:372:180:177:5106:5351 . 0/1:-416.12,0,-410.065:522:241:268:8081:7332 0/1:-186.645,0,-248.286:279:145:123:3644:4295 0/1:-510.719,0,-504.014:631:298:311:9337:8989 . 0/1:-288.376,0,-303.279:414:197:200:5766:5876 . . 0/1:-287.133,0,-282.137:374:176:181:5364:5505 . . 0/1:-416.984,0,-485.857:574:291:261:7866:8814 . . 0/1:-341.053,0,-435.505:467:243:209:6210:7399 . 1/1:-1495.22,-184.486,0:720:13:692:20408:384 . . . 1/1:-1130.27,-135.509,0:548:10:523:15824:323 0/1:-401.239,0,-551.284:580:314:252:7493:9763 0/1:-415.713,0,-513.051:563:290:255:7404:8803 0/1:-384.247,0,-421.582:503:239:253:7671:7299 . . 0/1:-378.579,0,-508.536:551:297:239:7276:8955 . 0/1:-255.812,0,-480.423:448:253:176:5183:7727 0/1:-414.5,0,-469.006:558:281:257:7516:8568 0/1:-504.648,0,-448.098:599:268:298:8934:7890 0/1:-319.058,0,-265.247:410:183:206:6168:5576 0/1:-518.896,0,-472.39:618:280:311:9266:8690 . 0/1:-305.585,0,-272.792:412:193:205:6013:5762 1/1:-895.23,-120.366,0:425:5:416:12196:110 1/1:-1112.61,-126.993,0:544:12:514:15052:397 . . 1/1:-1322.09,-167.275,0:640:9:620:18801:282 0/1:-210.61,0,-255.042:337:166:153:4425:4948 . . . 0/1:-416.276,0,-500.055:571:286:265:7988:8738 0/1:-371.964,0,-486.353:566:303:247:7378:8994 1/1:-517.523,-73.7341,0:254:1:248:7339:14 . 0/1:-402.958,0,-415.487:525:240:263:7752:7593 0/1:-308.03,0,-487.863:541:285:229:6581:8652 . 0/1:-472.562,0,-639.064:657:338:293:8848:10696 0/1:-376.304,0,-425.463:529:265:240:7050:7897 0/1:-210.402,0,-230.7:341:163:155:4432:4798 . . . 0/1:-485.634,0,-472.755:605:279:305:9046:8554 0/1:-316.735,0,-340.988:414:197:199:5846:5985 . . 1/1:-1196.13,-159.328,0:582:6:563:16382:168 0/1:-426.389,0,-580.827:653:346:284:8446:10101 . . . 0/1:-286.189,0,-370.124:400:204:178:5355:6140 . 0/1:-221.273,0,-248.408:313:155:143:4402:4590 0/1:-342.249,0,-411.198:491:237:234:6818:7190 0/1:-479.647,0,-579.062:683:335:313:9162:10195 . 0/1:-472.775,0,-522.014:619:308:291:8734:9266 1/1:-1139.25,-139.616,0:543:10:521:15381:268 . . . . 1/1:-1397.74,-128.279,0:550:12:531:16698:411:12,531 0/1:-462.766,0,-437.955:454:216:231:7083:6778:216,231 . 0/1:-599.026,0,-603.918:622:311:301:9249:9393:311,301 . . . . 1/1:-1428.15,-152.439,0:574:6:560:17143:212:6,560 . 0/1:-422.089,0,-557.769:496:274:215:6664:8535:274,215 0/1:-484.242,0,-480.851:493:237:247:7434:7409:237,247 . . . 0/1:-529.083,0,-483.065:505:239:258:8000:7548:239,258 . . chr3 14174427 . A T 14092.89 . AB=0.4664;ABP=15.2678;AC=47;AF=0.5;AN=86;AO=583;CIGAR=1X;DP=61082;DPB=1250;DPRA=0;EPP=3.01402;EPPR=36.1132;GTI=0;LEN=1;MEANALT=3;MQM=35.6518;MQMR=35.9873;NS=1;NUMALT=1;ODDS=2217.19;PAIRED=0.919383;PAIREDR=0.912698;PAO=0;PQA=0;PQR=0;PRO=0;QA=16643;QR=18638;RO=630;RPL=368;RPP=90.2007;RPPR=97.9898;RPR=215;RUN=1;SAF=295;SAP=3.19281;SAR=288;SF=0,1;SRF=306;SRP=4.12706;SRR=324;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon6:c.A504T:p.K168N;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.2876;esp6500siv2_ea=0.2878;esp6500siv2_all=0.2876;esp6500siv2_ea=0.2878;1000g2015aug_all=0.352636;avsnp147=rs4685076;Kaviar_AF=0.31735;Kaviar_AC=49063;Kaviar_AN=154602;ExAC_ALL=0.3209;ExAC_AFR=0.2861;ExAC_AMR=0.4409;ExAC_EAS=0.4366;ExAC_FIN=0.3004;ExAC_NFE=0.2792;ExAC_OTH=0.3521;ExAC_SAS=0.3728;CLNALLELEID=55313;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.219;SIFT_pred=T;Polyphen2_HDIV_score=0.203;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.017;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_pred=N;VEST3_score=0.122;CADD_raw=2.489;CADD_phred=19.40;DANN_score=0.994;fathmm-MKL_coding_score=0.854;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.896;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.56;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=0.106;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=7.874;GDI_full_10282015=.;dpsi_max_tissue=-0.0785;dpsi_zscore=-0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3251;gnomAD_exome_AFR=0.2843;gnomAD_exome_AMR=0.4218;gnomAD_exome_ASJ=0.2501;gnomAD_exome_EAS=0.4396;gnomAD_exome_FIN=0.3009;gnomAD_exome_NFE=0.2838;gnomAD_exome_OTH=0.2966;gnomAD_exome_SAS=0.3720;gnomAD_genome_ALL=0.2969;gnomAD_genome_AFR=0.2786;gnomAD_genome_AMR=0.4212;gnomAD_genome_ASJ=0.2682;gnomAD_genome_EAS=0.4300;gnomAD_genome_FIN=0.2923;gnomAD_genome_NFE=0.2893;gnomAD_genome_OTH=0.2740;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-979.52,0,-1125.16:1250:630:583:16643:18638 . . 0/1:-783.134,0,-764.106:884:420:439:12907:12460 . 0/1:-1626.41,0,-1635.63:1878:890:931:26723:26790 . . 0/1:-1068.93,0,-1251.78:1329:660:632:18214:19946 0/1:-1387.79,0,-1342.19:1592:750:800:22615:22253 . . . . . 0/1:-1834.49,0,-1883.54:2109:1025:1022:29973:30414 . . . 0/1:-890.628,0,-1043.16:1176:583:558:15560:17138 . 0/1:-1573.53,0,-1314.33:1677:745:882:25342:21975 0/1:-720.752,0,-726.056:855:416:423:12118:12432 0/1:-1629.18,0,-1740.26:1939:961:926:26715:28174 . 0/1:-737.525,0,-964.84:1051:547:469:13063:15928 . . 0/1:-859.041,0,-1008.23:1187:584:561:15426:16972 . . 0/1:-1456.53,0,-1470.78:1658:780:835:23737:23942 . . . . 0/1:-1452.56,0,-1455.21:1678:811:829:23781:23913 . . . 1/1:-4203.85,-483.084,0:1879:44:1801:52532:939 . 0/1:-1302.14,0,-1104.74:1413:636:747:21428:18669 . . . 0/1:-1140.34,0,-1307.88:1479:749:679:19199:21588 . 0/1:-774.088,0,-1061.88:1043:553:468:13267:16898 0/1:-1487.83,0,-1709.72:1814:916:852:24670:27694 0/1:-1300.6,0,-1527.14:1634:816:771:22046:24422 0/1:-1040.46,0,-1237.57:1393:700:657:18658:20595 . . 0/1:-884.441,0,-893.464:1081:512:544:15282:15371 1/1:-2514.74,-298.674,0:1120:22:1088:31403:431 . . . 0/1:-1354.25,0,-1456.5:1634:794:788:22646:23561 0/1:-830.791,0,-679.135:950:420:503:14057:12082 . . . . 0/1:-1492.79,0,-1447.22:1681:815:829:24183:23917 1/1:-1834.76,-221.063,0:883:27:847:23982:597 . 0/1:-1000.18,0,-1148.91:1265:638:582:16834:18545 0/1:-1087.82,0,-1206.09:1352:671:637:18248:19686 . . 0/1:-1414.29,0,-1482.9:1717:829:835:23612:24216 . . . . . 0/1:-840.128,0,-859.783:1003:471:498:14119:13899 . . 0/1:-1416.28,0,-1318.21:1629:763:822:23407:22363 . . . . 0/1:-979.176,0,-1025.23:1171:577:564:16384:16884 . 0/1:-606.329,0,-681.887:774:387:359:10382:11185 0/1:-1169.7,0,-1030.5:1346:617:690:19465:17901 0/1:-1887.5,0,-2021.76:2213:1085:1073:31230:32672 . . 0/1:-1196.94,0,-1324.28:1465:728:701:20266:21396 . . . . 0/1:-1953.53,0,-1891.58:1838:894:932:28989:28300:894,932 0/1:-944.177,0,-895.718:900:429:462:14177:13633:429,462 . 0/1:-1871.15,0,-1740.86:1752:844:893:27947:26392:844,893 . . . . 1/1:-4338.95,-459.691,0:1669:22:1640:50836:481:22,1640 . 0/1:-1418.86,0,-1264.46:1307:616:677:20945:19290:616,677 0/1:-1374.04,0,-1554.3:1414:728:675:20946:23192:728,675 . . . . . . chr3 14175262 . T C 15185.01 . AB=0.5;ABP=3.0103;AC=48;AF=0.5;AN=88;AO=672;CIGAR=1X;DP=69763;DPB=1344;DPRA=0;EPP=11.0887;EPPR=3.76779;GTI=0;LEN=1;MEANALT=3;MQM=34.9673;MQMR=36.6233;NS=1;NUMALT=1;ODDS=2493.77;PAIRED=0.91369;PAIREDR=0.899225;PAO=0;PQA=0;PQR=0;PRO=0;QA=18663;QR=19481;RO=645;RPL=250;RPP=98.6068;RPPR=108.483;RPR=422;RUN=1;SAF=351;SAP=5.91852;SAR=321;SF=0,1;SRF=332;SRP=4.22565;SRR=313;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon7:c.T536C:p.M179T;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.3328;esp6500siv2_ea=0.2955;esp6500siv2_all=0.3328;esp6500siv2_ea=0.2955;1000g2015aug_all=0.463259;avsnp147=rs2340917;Kaviar_AF=0.366011;Kaviar_AC=56586;Kaviar_AN=154602;ExAC_ALL=0.3724;ExAC_AFR=0.4177;ExAC_AMR=0.5811;ExAC_EAS=0.6735;ExAC_FIN=0.3161;ExAC_NFE=0.2864;ExAC_OTH=0.3855;ExAC_SAS=0.4091;CLNALLELEID=55315;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.59;MutationAssessor_pred=N;FATHMM_score=1.6;FATHMM_pred=T;PROVEAN_score=2.58;PROVEAN_pred=N;VEST3_score=0.146;CADD_raw=0.428;CADD_phred=6.855;DANN_score=0.191;fathmm-MKL_coding_score=0.120;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.943;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.32;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.040;phastCons7way_vertebrate=0.760;phastCons20way_mammalian=0.297;SiPhy_29way_logOdds=14.217;GDI_full_10282015=.;dpsi_max_tissue=2.6544;dpsi_zscore=2.156;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3782;gnomAD_exome_AFR=0.4174;gnomAD_exome_AMR=0.5584;gnomAD_exome_ASJ=0.2542;gnomAD_exome_EAS=0.6687;gnomAD_exome_FIN=0.3145;gnomAD_exome_NFE=0.2909;gnomAD_exome_OTH=0.3367;gnomAD_exome_SAS=0.4095;gnomAD_genome_ALL=0.3565;gnomAD_genome_AFR=0.4188;gnomAD_genome_AMR=0.5095;gnomAD_genome_ASJ=0.2682;gnomAD_genome_EAS=0.6592;gnomAD_genome_FIN=0.3033;gnomAD_genome_NFE=0.2967;gnomAD_genome_OTH=0.3037;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1101.4,0,-1183.95:1344:645:672:18663:19481 . . 0/1:-948.874,0,-922.527:1076:508:542:15717:15303 . 0/1:-1975.93,0,-1912.97:2275:1084:1148:32804:32141 . . 0/1:-1285.07,0,-1217.4:1485:683:762:21452:20275 0/1:-1442.22,0,-1458.6:1710:816:866:24357:24084 . . . . . 0/1:-1809.52,0,-2309.03:2390:1217:1111:31264:36928 . . . 0/1:-1092.12,0,-1189.99:1289:636:621:18145:19317 . 0/1:-1670.73,0,-1592.98:1879:876:966:27586:26245 0/1:-771.479,0,-882.935:1053:511:508:13779:15322 0/1:-1727.8,0,-1909.77:2104:1035:1025:29305:31386 . 0/1:-974.083,0,-1072.8:1295:632:632:17577:18724 . . 0/1:-1040.9,0,-1113.4:1324:644:634:17930:19178 . . 0/1:-1844.47,0,-1662.63:1996:920:1043:30415:28180 . . . . 0/1:-1433.36,0,-1843.83:1914:967:896:25044:29402 . . . 1/1:-4463.6,-520.658,0:2050:34:1983:56543:1040 0/1:-1323.17,0,-1458.15:1609:789:787:22124:24027 0/1:-1296.06,0,-1404.73:1572:753:783:22174:23023 . . . 0/1:-1303.36,0,-1734.7:1744:901:799:22824:27375 . 0/1:-1103.02,0,-1334:1367:695:645:18496:21565 0/1:-1475.04,0,-1921.63:1950:1015:902:25386:30676 0/1:-1638.05,0,-1649.82:1874:888:953:27302:27044 0/1:-1186.4,0,-1395.63:1573:798:737:21063:23676 . . 0/1:-924.239,0,-1106.77:1240:611:602:16873:18712 1/1:-2772.05,-343.77,0:1241:10:1216:34743:303 . . . 0/1:-1516.11,0,-1438.13:1761:805:914:25191:23896 0/1:-896.457,0,-1029.98:1158:591:544:15496:17557 . . . . 0/1:-1447.29,0,-1589.4:1780:880:862:24864:25967 1/1:-2160.19,-292.125,0:1026:7:1005:27987:200 . 0/1:-1142.26,0,-1365.2:1497:746:711:20136:22381 0/1:-1322.77,0,-1601.37:1762:890:833:23367:26461 . . 0/1:-1625.46,0,-1725.07:1943:949:948:27172:28161 . . . . . 0/1:-771.75,0,-1017.14:1048:537:491:13633:16361 . . 0/1:-1640.98,0,-1671.81:1958:932:988:27681:28113 . . . . 0/1:-1066.59,0,-1167.83:1338:643:659:18411:19296 . 0/1:-775.936,0,-819.777:930:455:459:12982:13827 0/1:-1260.05,0,-1424.6:1548:765:740:21305:23072 0/1:-1815.92,0,-2096.9:2283:1154:1089:31033:34584 . . 0/1:-1461.51,0,-1490.42:1747:818:877:24547:24370 . . . . 0/1:-1787.57,0,-1616.31:1614:761:842:26308:24432:761,842 0/1:-784.052,0,-985.429:866:459:396:12160:14485:459,396 . 0/1:-2008.27,0,-1819.81:1794:850:935:29461:27545:850,935 . . . . 1/1:-3936.82,-408.301,0:1548:19:1517:46518:614:19,1517 . 0/1:-1418.32,0,-1525.05:1408:703:688:21322:22760:703,688 0/1:-1405.37,0,-1534.42:1400:699:688:21243:22557:699,688 . . . . . . chr3 14180706 . C T 11183.49 . AB=0.438155;ABP=50.5505;AC=10;AF=0.5;AN=20;AO=627;CIGAR=1X;DP=17046;DPB=1431;DPRA=0;EPP=50.419;EPPR=66.2602;GTI=0;LEN=1;MEANALT=3;MQM=32.7416;MQMR=33.9415;NS=1;NUMALT=1;ODDS=1930.07;PAIRED=0.878788;PAIREDR=0.885638;PAO=0;PQA=0;PQR=0;PRO=0;QA=16743;QR=22546;RO=752;RPL=200;RPP=181.469;RPPR=204.264;RPR=427;RUN=1;SAF=305;SAP=4.01119;SAR=322;SF=0,1;SRF=358;SRP=6.75262;SRR=394;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon11:c.C909T:p.S303S;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0213;esp6500siv2_ea=0.02;esp6500siv2_all=0.0213;esp6500siv2_ea=0.02;1000g2015aug_all=0.0213658;avsnp147=rs35100587;Kaviar_AF=0.0200838;Kaviar_AC=3105;Kaviar_AN=154602;ExAC_ALL=0.0200;ExAC_AFR=0.0288;ExAC_AMR=0.0092;ExAC_EAS=0;ExAC_FIN=0.0115;ExAC_NFE=0.0210;ExAC_OTH=0.0177;ExAC_SAS=0.0317;CLNALLELEID=55319;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7035;dpsi_zscore=-1.272;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0184;gnomAD_exome_AFR=0.0290;gnomAD_exome_AMR=0.0105;gnomAD_exome_ASJ=0.0056;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0117;gnomAD_exome_NFE=0.0213;gnomAD_exome_OTH=0.0179;gnomAD_exome_SAS=0.0307;gnomAD_genome_ALL=0.0195;gnomAD_genome_AFR=0.0284;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0181;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-871.928,0,-1337.23:1431:752:627:16743:22546 . . . . . . 0/1:-2364.42,0,-3051.67:3536:1762:1622:42817:52609 . . . . . . . . . . 0/1:-768.951,0,-1022.3:1246:618:565:15122:18083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-619.537,0,-806.382:946:468:433:11608:13734 . . . . . . . . . . . 0/1:-1313.7,0,-1838.84:2056:1030:928:24032:30672 . 0/1:-1210.92,0,-1637.84:1832:941:807:21940:28636 . 0/1:-594.472,0,-804.156:919:459:418:10930:13772 . . . 0/1:-884.57,0,-1323.69:1470:746:654:16689:22370 . . . . . . . . . . 0/1:-1256.46,0,-1612.82:1919:950:878:23364:27858 . . . . . . . . . . . . . . . 0/1:-1383.73,0,-1926.2:1691:911:750:22437:28596:911,750 . . . . . chr3 14180731 . C T 9014.20 . AB=0.397953;ABP=162.113;AC=1;AF=0.5;AN=2;AO=700;CIGAR=1X;DP=1759;DPB=1759;DPRA=0;EPP=34.0313;EPPR=26.3037;GTI=0;LEN=1;MEANALT=3;MQM=32.9686;MQMR=35.5197;NS=1;NUMALT=1;ODDS=2075.6;PAIRED=0.865714;PAIREDR=0.870576;PAO=0;PQA=0;PQR=0;PRO=0;QA=18418;QR=30543;RO=989;RPL=361;RPP=4.51172;RPPR=3.27597;RPR=339;RUN=1;SAF=329;SAP=8.48241;SAR=371;SF=0;SRF=466;SRP=10.1439;SRR=523;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon11:c.C934T:p.R312W;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0134;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0134;1000g2015aug_all=0.00379393;avsnp147=rs113449357;Kaviar_AF=0.0092625;Kaviar_AC=1432;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0021;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0.0354;ExAC_NFE=0.0113;ExAC_OTH=0.0143;ExAC_SAS=0.0023;CLNALLELEID=45534;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_pred=M;FATHMM_score=-0.14;FATHMM_pred=T;PROVEAN_score=-7.55;PROVEAN_pred=D;VEST3_score=0.664;CADD_raw=7.570;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.836;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.194;MetaSVM_pred=T;MetaLR_score=0.293;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=4.37;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.207;GDI_full_10282015=.;dpsi_max_tissue=-0.5571;dpsi_zscore=-1.147;hgmdCODING=HGMD::Arrhythmogenic_right_ventricular_cardiomyopathy#23161701;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1211063#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0098;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0354;gnomAD_exome_NFE=0.0121;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0114;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0366;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-924.284,0,-1921.76:1759:989:700:18418:30543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 14183188 . G A 5943.49 . AB=0.449;ABP=25.6023;AC=1;AF=0.5;AN=2;AO=449;CIGAR=1X;DP=1000;DPB=1000;DPRA=0;EPP=3.13121;EPPR=4.14943;GTI=0;LEN=1;MEANALT=3;MQM=32.1581;MQMR=32.2111;NS=1;NUMALT=1;ODDS=1368.54;PAIRED=0.917595;PAIREDR=0.903689;PAO=0;PQA=0;PQR=0;PRO=0;QA=11826;QR=14725;RO=488;RPL=275;RPP=52.3448;RPPR=15.9857;RPR=174;RUN=1;SAF=236;SAP=5.56867;SAR=213;SF=0;SRF=273;SRP=17.9792;SRR=215;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon12:c.G1096A:p.A366T;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00559105;avsnp147=rs36083134;Kaviar_AF=0.00163;Kaviar_AC=252;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0178;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.994e-05;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=55303;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.197;SIFT_pred=T;Polyphen2_HDIV_score=0.684;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.197;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=1.22;FATHMM_pred=T;PROVEAN_score=-0.46;PROVEAN_pred=N;VEST3_score=0.251;CADD_raw=3.885;CADD_phred=23.5;DANN_score=0.997;fathmm-MKL_coding_score=0.828;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.126;MetaSVM_pred=T;MetaLR_score=0.022;MetaLR_pred=T;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=5.71;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.994;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.044;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0180;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.06e-05;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0059;gnomAD_genome_AFR=0.0205;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-607.791,0,-807.194:1000:488:449:11826:14725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 14183242 . C G 9385.44 . AB=0.535021;ABP=15.6342;AC=1;AF=0.5;AN=2;AO=634;CIGAR=1X;DP=1185;DPB=1185;DPRA=0;EPP=72.0727;EPPR=38.8072;GTI=0;LEN=1;MEANALT=3;MQM=32.4416;MQMR=33.1642;NS=1;NUMALT=1;ODDS=1819.23;PAIRED=0.917981;PAIREDR=0.908582;PAO=0;PQA=0;PQR=0;PRO=0;QA=17203;QR=15365;RO=536;RPL=250;RPP=64.5102;RPPR=43.5228;RPR=384;RUN=1;SAF=330;SAP=5.32562;SAR=304;SF=0;SRF=265;SRP=3.15615;SRR=271;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon12:c.C1150G:p.L384V;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs193922706;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.778e-05;ExAC_AFR=9.636e-05;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.002e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=45531;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;SIFT_score=0.689;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=0.959;MutationTaster_pred=N;MutationAssessor_score=1.24;MutationAssessor_pred=L;FATHMM_score=1.29;FATHMM_pred=T;PROVEAN_score=0.02;PROVEAN_pred=N;VEST3_score=0.184;CADD_raw=-0.518;CADD_phred=0.198;DANN_score=0.550;fathmm-MKL_coding_score=0.169;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.016;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_pred=T;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=2.52;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.572;phastCons20way_mammalian=0.377;SiPhy_29way_logOdds=0.501;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.687e-05;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.373e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-961.829,0,-807.557:1185:536:634:17203:15365 . . . . . . . . . . . . . . . . . . . . . chr3 32148311 . T G 21.63 . AB=0.388889;ABP=6.8707;AC=3;AF=0.5;AN=6;AO=14;CIGAR=1X;DP=93;DPB=36;DPRA=0;EPP=25.3454;EPPR=3.94093;GTI=0;LEN=1;MEANALT=2;MQM=28.5714;MQMR=27.4762;NS=1;NUMALT=1;ODDS=4.70957;PAIRED=0.714286;PAIREDR=0.809524;PAO=0;PQA=0;PQR=0;PRO=0;QA=251;QR=462;RO=21;RPL=10;RPP=8.59409;RPPR=26.2761;RPR=4;RUN=1;SAF=9;SAP=5.49198;SAR=5;SF=0;SRF=6;SRP=11.386;SRR=15;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . 0/1:-10.4111,0,-23.0812:36:21:14:251:462 . . . . 0/1:-8.19926,0,-18.0233:23:12:9:164:300 . . . . . . . . . . . . . . . . . . . . . . 0/1:-10.2551,0,-24.0438:34:19:13:255:451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 32181709 . CA AT 7160.77 . AB=0.49144;ABP=3.64228;AC=1;AF=0.5;AN=2;AO=488;CIGAR=2X;DP=993;DPB=993.5;DPRA=0;EPP=3.29508;EPPR=4.40797;GTI=0;LEN=2;MEANALT=9;MQM=36.8607;MQMR=38.2004;NS=1;NUMALT=1;ODDS=1648.83;PAIRED=0.959016;PAIREDR=0.957684;PAO=0;PQA=0;PQR=0;PRO=1;QA=12349;QR=13348;RO=449;RPL=160;RPP=128.6;RPPR=76.1778;RPR=328;RUN=1;SAF=346;SAP=188.191;SAR=142;SF=0;SRF=305;SRP=128.371;SRR=144;TYPE=mnp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-756.218,0,-837.903:993:449:488:12349:13348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 32181725 . A G 11890.20 . AB=0.504095;ABP=3.20594;AC=1;AF=0.5;AN=2;AO=677;CIGAR=1X;DP=1343;DPB=1343;DPRA=0;EPP=4.70706;EPPR=6.57374;GTI=0;LEN=1;MEANALT=3;MQM=37.2097;MQMR=38.1795;NS=1;NUMALT=1;ODDS=2737.81;PAIRED=0.929099;PAIREDR=0.910256;PAO=0;PQA=0;PQR=0;PRO=0;QA=19625;QR=19438;RO=624;RPL=239;RPP=130.03;RPPR=32.4644;RPR=438;RUN=1;SAF=459;SAP=189.305;SAR=218;SF=0;SRF=394;SRP=96.6063;SRR=230;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.A372G:p.I124M;cytoBand=3p22.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs182826539;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=5.766e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=293883;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.5;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.097;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=0.33;FATHMM_pred=T;PROVEAN_score=-1.14;PROVEAN_pred=N;VEST3_score=0.553;CADD_raw=2.478;CADD_phred=19.33;DANN_score=0.640;fathmm-MKL_coding_score=0.261;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.108;MetaSVM_pred=T;MetaLR_score=0.114;MetaLR_pred=T;integrated_fitCons_score=0.653;integrated_confidence_value=0;GERP++_RS=-4.57;phyloP7way_vertebrate=0.042;phyloP20way_mammalian=1.178;phastCons7way_vertebrate=0.775;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=4.071;GDI_full_10282015=.;dpsi_max_tissue=0.1626;dpsi_zscore=0.646;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.876e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.962e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=6.463e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-1229.74,0,-1224.72:1343:624:677:19625:19438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 32181761 . C T 16534.10 . AB=0.502711;ABP=3.09272;AC=46;AF=0.5;AN=82;AO=649;CIGAR=1X;DP=64099;DPB=1291;DPRA=0;EPP=26.06;EPPR=21.9494;GTI=0;LEN=1;MEANALT=3;MQM=38.2835;MQMR=38.6792;NS=1;NUMALT=1;ODDS=2653.58;PAIRED=0.950693;PAIREDR=0.957447;PAO=0;PQA=0;PQR=0;PRO=0;QA=18535;QR=18380;RO=611;RPL=265;RPP=50.3912;RPPR=32.4407;RPR=384;RUN=1;SAF=334;SAP=4.21816;SAR=315;SF=0,1;SRF=331;SRP=12.2542;SRR=280;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.C408T:p.D136D;cytoBand=3p22.3;genomicSuperDups=.;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1387;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1387;1000g2015aug_all=0.14976;avsnp147=rs9835387;Kaviar_AF=0.129106;Kaviar_AC=19960;Kaviar_AN=154602;ExAC_ALL=0.1286;ExAC_AFR=0.3006;ExAC_AMR=0.0645;ExAC_EAS=0.0005;ExAC_FIN=0.0851;ExAC_NFE=0.1307;ExAC_OTH=0.1244;ExAC_SAS=0.1412;CLNALLELEID=251091;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0282;dpsi_zscore=0.186;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1233;gnomAD_exome_AFR=0.3038;gnomAD_exome_AMR=0.0716;gnomAD_exome_ASJ=0.1208;gnomAD_exome_EAS=0.0007;gnomAD_exome_FIN=0.0965;gnomAD_exome_NFE=0.1348;gnomAD_exome_OTH=0.1169;gnomAD_exome_SAS=0.1384;gnomAD_genome_ALL=0.1626;gnomAD_genome_AFR=0.2965;gnomAD_genome_AMR=0.0875;gnomAD_genome_ASJ=0.1656;gnomAD_genome_EAS=0.0025;gnomAD_genome_FIN=0.0939;gnomAD_genome_NFE=0.1251;gnomAD_genome_OTH=0.1207;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1178.35,0,-1165.87:1291:611:649:18535:18380 1/1:-4210.31,-459.36,0:1840:32:1768:51134:949 0/1:-1237.62,0,-1385.63:1394:693:673:19516:21174 0/1:-918.162,0,-858.227:955:450:485:14276:13545 . . 0/1:-1257.16,0,-1382.6:1407:707:666:19826:21495 . . 0/1:-1535.01,0,-1565.35:1702:809:855:24608:24808 . 0/1:-1277.78,0,-1486.66:1500:761:700:20456:23091 . . 0/1:-1047.17,0,-1276.42:1251:642:582:16954:19317 . . 0/1:-2662.98,0,-2986.73:3080:1534:1481:42760:46076 0/1:-1157.5,0,-1701.69:1527:827:670:19413:25385 0/1:-992.328,0,-1092.13:1159:566:549:16111:17026 . . . . 0/1:-1521.36,0,-1585.67:1720:821:834:23917:24964 . . . . . 0/1:-1111.36,0,-1159.63:1241:602:604:17481:18174 0/1:-1658.82,0,-1937.63:1928:975:908:26273:29817 0/1:-1239.26,0,-1681.84:1620:866:707:20214:25842 . . . . . 0/1:-1371.28,0,-1375.89:1518:729:744:21490:21850 . . . . 0/1:-1227.82,0,-1650:1543:827:685:19978:24908 0/1:-1528.09,0,-1803.38:1817:922:865:24753:27909 . . . . . . . . 0/1:-1445.71,0,-1846.58:1808:940:825:23689:28166 . 0/1:-1024.77,0,-1129.25:1185:576:574:16169:17366 . . . 0/1:-1409.72,0,-1792.29:1709:906:771:22771:27422 . . . . 0/1:-1534.23,0,-1799.89:1853:938:872:25221:27937 0/1:-1343.12,0,-1439.58:1491:744:714:20806:22169 1/1:-2249.01,-267.169,0:1022:11:969:27363:320 . 0/1:-1068.1,0,-1494.54:1403:757:614:17444:22466 . 0/1:-1438.78,0,-1370.66:1528:711:786:22303:21413 1/1:-5071.86,-560.601,0:2136:25:2052:60686:732 0/1:-1430.78,0,-1937.7:1837:989:802:23471:29409 0/1:-823.471,0,-965.844:1120:546:525:14266:15811 . . . . . 0/1:-836.759,0,-772.694:877:412:448:12988:12067 . 0/1:-1478.57,0,-1877.68:1797:945:818:23840:28546 . . 0/1:-1000.07,0,-1431.83:1399:761:603:16917:22284 . . . . 1/1:-3285.58,-366.58,0:1440:24:1385:39850:678 0/1:-1914.68,0,-2157.9:2235:1114:1073:30752:33158 0/1:-1395.35,0,-1300.9:1466:686:751:21764:20430 . . . . . . 0/1:-1762.83,0,-1710.02:1693:813:856:26324:25670:813,856 . . 1/1:-4610.6,-458.136,0:1809:29:1751:54332:890:29,1751 0/1:-1562.13,0,-1289.58:1354:617:723:22715:19593:617,723 . . 0/1:-1655.39,0,-1762.72:1675:833:817:24959:26200:833,817 . . . . . 0/1:-1429.86,0,-1678.1:1499:771:706:21797:24553:771,706 . . 0/1:-1407.57,0,-1292.57:1270:603:653:20613:19369:603,653 . chr3 32188248 . GAG GG 4846.45 . AB=0.430052;ABP=68.627;AC=8;AF=0.5;AN=16;AO=664;CIGAR=1M1D1M;DP=6345;DPB=1326.67;DPRA=0;EPP=74.6427;EPPR=54.3703;GTI=0;LEN=1;MEANALT=19;MQM=37.9096;MQMR=38.9834;NS=1;NUMALT=1;ODDS=2130.07;PAIRED=0.926205;PAIREDR=0.941176;PAO=6.5;PQA=192;PQR=200;PRO=6.5;QA=16258;QR=24528;RO=782;RPL=349;RPP=6.79075;RPPR=16.6167;RPR=315;RUN=1;SAF=293;SAP=22.9067;SAR=371;SF=0,1;SRF=345;SRP=26.5133;SRR=437;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.3;genomicSuperDups=.;esp6500siv2_all=0.0706;esp6500siv2_ea=0.0194;esp6500siv2_all=0.0706;esp6500siv2_ea=0.0194;1000g2015aug_all=0.101637;avsnp147=rs11351972;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;ExAC_ALL=0.0459;ExAC_AFR=0.1771;ExAC_AMR=0.0184;ExAC_EAS=0.1466;ExAC_FIN=0.0245;ExAC_NFE=0.0185;ExAC_OTH=0.0474;ExAC_SAS=0.0491;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0423;gnomAD_exome_AFR=0.1744;gnomAD_exome_AMR=0.0206;gnomAD_exome_ASJ=0.0126;gnomAD_exome_EAS=0.1446;gnomAD_exome_FIN=0.0260;gnomAD_exome_NFE=0.0189;gnomAD_exome_OTH=0.0347;gnomAD_exome_SAS=0.0501;gnomAD_genome_ALL=0.0696;gnomAD_genome_AFR=0.1758;gnomAD_genome_AMR=0.0334;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.1471;gnomAD_genome_FIN=0.0235;gnomAD_genome_NFE=0.0159;gnomAD_genome_OTH=0.0336;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-944.959,0,-1643.11:1544:782:664:16258:24528 . . . . . . . . . . . . 0/1:-410.817,0,-735.1:692:348:294:7201:11083 . . . . . . . 0/1:-424.134,0,-775.681:730:380:296:7441:11791 . . . . . . . . . . . . . . . . 0/1:-399.032,0,-689.83:681:333:282:6807:10494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-525.218,0,-938.054:917:474:378:9268:14657 . . . . . 0/1:-478.959,0,-846.162:820:405:348:8460:12655 . . . . . 0/1:-278.556,0,-357.919:356:166:166:4404:5264:166,166 . . . 0/1:-419.448,0,-624.304:605:284:275:6914:9133:284,275 . . . . . . . . . . . . chr3 32200588 . C T 2754.53 . AB=0.475891;ABP=5.41849;AC=1;AF=0.5;AN=2;AO=227;CIGAR=1X;DP=477;DPB=477;DPRA=0;EPP=68.9102;EPPR=42.0506;GTI=0;LEN=1;MEANALT=3;MQM=34.5683;MQMR=34.8723;NS=1;NUMALT=1;ODDS=634.254;PAIRED=0.973568;PAIREDR=0.923404;PAO=0;PQA=0;PQR=0;PRO=0;QA=5968;QR=7372;RO=235;RPL=185;RPP=198.625;RPPR=161.583;RPR=42;RUN=1;SAF=38;SAP=221.124;SAR=189;SF=0;SRF=39;SRP=230.775;SRR=196;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon6:c.C839T:p.A280V;cytoBand=3p22.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000399361;avsnp147=rs72552291;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.702e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=15825;CLNDN=Death_in_infancy|Brugada_syndrome|Brugada_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001522,MedGen:C1844947|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2673193,OMIM:611777|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.832;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.988;MutationTaster_pred=A;MutationAssessor_score=0.405;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_pred=T;PROVEAN_score=0.29;PROVEAN_pred=N;VEST3_score=0.161;CADD_raw=0.097;CADD_phred=3.573;DANN_score=0.230;fathmm-MKL_coding_score=0.546;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.965;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=3.42;phyloP7way_vertebrate=0.031;phyloP20way_mammalian=0.918;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.861;SiPhy_29way_logOdds=9.107;GDI_full_10282015=.;dpsi_max_tissue=0.4100;dpsi_zscore=1.034;hgmdCODING=HGMD::Brugada_syndrome#17967977;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM074892#"Brugada_syndrome";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.958e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-334.14,0,-441.223:477:235:227:5968:7372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38592019 . G A 1995.87 . AB=0.425163;ABP=25.4363;AC=3;AF=0.5;AN=6;AO=196;CIGAR=1X;DP=1158;DPB=461;DPRA=0;EPP=3.71935;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=30.0765;MQMR=32.4856;NS=1;NUMALT=1;ODDS=513.286;PAIRED=0.94898;PAIREDR=0.958848;PAO=0;PQA=0;PQR=0;PRO=0;QA=5174;QR=7164;RO=243;RPL=113;RPP=12.9813;RPPR=4.5205;RPR=83;RUN=1;SAF=133;SAP=57.2971;SAR=63;SF=0;SRF=182;SRP=133.844;SRR=61;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.C5790T:p.I1930I,SCN5A:NM_001160161:exon27:c.C5682T:p.I1894I,SCN5A:NM_000335:exon28:c.C5841T:p.I1947I,SCN5A:NM_001099404:exon28:c.C5844T:p.I1948I,SCN5A:NM_001160160:exon28:c.C5745T:p.I1915I,SCN5A:NM_198056:exon28:c.C5844T:p.I1948I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0696;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0696;esp6500siv2_ea=0.0017;1000g2015aug_all=0.067492;avsnp147=rs13324293;Kaviar_AF=0.0183503;Kaviar_AC=2837;Kaviar_AN=154602;ExAC_ALL=0.0194;ExAC_AFR=0.2146;ExAC_AMR=0.0098;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0174;ExAC_SAS=0.0010;CLNALLELEID=57474;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0161;gnomAD_exome_AFR=0.2185;gnomAD_exome_AMR=0.0117;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0119;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0623;gnomAD_genome_AFR=0.2166;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-237.75,0,-402.078:461:243:196:5174:7164 . . . . . . . . . . . . . . 0/1:-131.674,0,-177.705:238:120:104:2858:3499 . 0/1:-276.03,0,-405.648:459:243:204:5433:7313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38592406 . A G 15661.52 . AB=0.498473;ABP=3.03682;AC=78;AF=0.5;AN=132;AO=653;CIGAR=1X;DP=98902;DPB=1310;DPRA=0;EPP=4.76943;EPPR=16.1486;GTI=0;LEN=1;MEANALT=3;MQM=34.1639;MQMR=36.3805;NS=1;NUMALT=1;ODDS=2416.4;PAIRED=0.924962;PAIREDR=0.923577;PAO=0;PQA=0;PQR=0;PRO=0;QA=18794;QR=18268;RO=615;RPL=193;RPP=240.073;RPPR=218.424;RPR=460;RUN=1;SAF=411;SAP=97.9864;SAR=242;SF=0,1;SRF=378;SRP=73.2071;SRR=237;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.T5403C:p.D1801D,SCN5A:NM_001160161:exon27:c.T5295C:p.D1765D,SCN5A:NM_000335:exon28:c.T5454C:p.D1818D,SCN5A:NM_001099404:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160160:exon28:c.T5358C:p.D1786D,SCN5A:NM_198056:exon28:c.T5457C:p.D1819D;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.4314;esp6500siv2_ea=0.3336;esp6500siv2_all=0.4314;esp6500siv2_ea=0.3336;1000g2015aug_all=0.492412;avsnp147=rs1805126;Kaviar_AF=0.379568;Kaviar_AC=58682;Kaviar_AN=154602;ExAC_ALL=0.3878;ExAC_AFR=0.6508;ExAC_AMR=0.3916;ExAC_EAS=0.5534;ExAC_FIN=0.4433;ExAC_NFE=0.3338;ExAC_OTH=0.4180;ExAC_SAS=0.3364;CLNALLELEID=57470;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM057565#"Longer_QT_interval_association_with";gnomAD_exome_ALL=0.3872;gnomAD_exome_AFR=0.6551;gnomAD_exome_AMR=0.3766;gnomAD_exome_ASJ=0.3401;gnomAD_exome_EAS=0.5575;gnomAD_exome_FIN=0.4431;gnomAD_exome_NFE=0.3339;gnomAD_exome_OTH=0.3999;gnomAD_exome_SAS=0.3359;gnomAD_genome_ALL=0.4472;gnomAD_genome_AFR=0.6625;gnomAD_genome_AMR=0.3765;gnomAD_genome_ASJ=0.3367;gnomAD_genome_EAS=0.5580;gnomAD_genome_FIN=0.4376;gnomAD_genome_NFE=0.3240;gnomAD_genome_OTH=0.3633;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1091.29,0,-1088.44:1310:615:653:18794:18268 0/1:-1481.5,0,-1568.4:1875:902:911:25923:26370 0/1:-1409.98,0,-1274.1:1573:712:815:23488:21484 0/1:-776.105,0,-830.251:960:466:460:13200:13797 0/1:-1346.98,0,-1413.09:1666:802:817:23382:23991 . 0/1:-1084.44,0,-1189.33:1362:679:634:18621:19878 0/1:-1410.08,0,-1456.11:1726:836:839:24386:24476 . 0/1:-1142.22,0,-1600.9:1662:872:744:20732:26063 . 0/1:-1222.04,0,-1384.35:1582:799:728:21203:23033 0/1:-1165.74,0,-1217.86:1395:680:674:19685:20229 . 1/1:-2727.92,-302.218,0:1237:30:1183:35002:789 . . . . 0/1:-941.93,0,-672.487:1001:430:541:15654:12598 . 0/1:-1222.93,0,-1509.22:1652:849:740:21115:24918 0/1:-701.724,0,-682.136:912:429:464:13009:12319 . . 0/1:-717.028,0,-846.219:1032:512:480:13379:14894 0/1:-1206.57,0,-1571.45:1662:861:752:21336:25515 . 0/1:-787.21,0,-958.73:1147:585:527:15094:16938 . 0/1:-1023.64,0,-1135.14:1270:635:596:17397:18899 . 1/1:-3491.09,-390.511,0:1638:41:1557:45397:1105 . 0/1:-1188.16,0,-1574.46:1601:836:717:20712:25321 . 0/1:-1476.41,0,-1772.01:1957:991:893:25776:29292 . . . 1/1:-3871.12,-468.732,0:1730:21:1664:48828:515 . 0/1:-1141.5,0,-1522.34:1598:849:704:20342:25031 0/1:-1089.8,0,-1482.04:1550:823:687:19579:24228 . 1/1:-3283.97,-400.027,0:1499:23:1449:42403:602 0/1:-1254.5,0,-1430.43:1642:824:779:22376:24132 . . . 1/1:-3975.27,-484.32,0:1790:19:1732:50641:529 0/1:-945.761,0,-852.214:1210:538:616:17286:15371 0/1:-1477.72,0,-1810.27:1914:978:881:25755:29101 0/1:-1559.04,0,-1749.1:1983:994:924:27157:28992 0/1:-734.106,0,-735.569:973:465:471:13368:13346 . . 0/1:-518.549,0,-645.697:754:368:352:9956:11001 0/1:-946.798,0,-1003.94:1166:565:560:16262:16563 . 0/1:-696.065,0,-626.122:883:400:449:12603:11339 0/1:-1350.56,0,-1950.17:1950:1043:853:24119:30941 0/1:-1196.55,0,-1208.66:1415:675:704:20307:20271 . 0/1:-1664.4,0,-1804.65:2048:1010:977:28378:29714 . . 0/1:-1123.98,0,-1435.34:1505:779:677:19500:22994 0/1:-1224.47,0,-1281.57:1537:759:735:21103:21882 0/1:-1248.98,0,-1481.51:1675:865:758:21830:25157 0/1:-1114.48,0,-1318.54:1478:760:677:19278:22097 . . 0/1:-608.486,0,-641.343:894:415:440:11775:12025 1/1:-2833.91,-343.075,0:1281:17:1236:35910:417 0/1:-1533.59,0,-1479.42:1856:865:941:27103:25611 . 0/1:-1254.08,0,-1485.05:1645:844:748:22014:24636 . 0/1:-908.41,0,-773.95:1002:451:516:15267:13475 0/1:-1302.84,0,-1504.7:1720:876:790:22937:25598 0/1:-1453.41,0,-1707.86:1908:949:899:25804:27677 . 0/1:-1089.24,0,-1227.33:1428:719:665:19507:20827 0/1:-1017.82,0,-1193.26:1398:706:632:18343:20331 . 1/1:-2231.96,-280.067,0:1040:12:1000:28580:322 0/1:-1212.29,0,-1563.39:1711:886:776:21799:25824 . 0/1:-1083.66,0,-1286.53:1437:738:660:18926:21195 . . 1/1:-3984.4,-470.432,0:1834:33:1753:51189:857 . 1/1:-3940.66,-482.233,0:1833:29:1762:50787:711 . . 0/1:-1610.01,0,-1935.46:1749:913:803:25085:28671:913,803 . 0/1:-1209.29,0,-1319.43:1250:626:606:18704:19818:626,606 . . 1/1:-3818.15,-405.566,0:1501:18:1469:45783:490:18,1469 . 0/1:-1707.66,0,-1838.51:1733:867:846:26243:27488:867,846 . . 0/1:-1182.58,0,-1370.47:1258:650:598:18417:20513:650,598 . 1/1:-3747.75,-395.007,0:1465:16:1432:44705:510:16,1432 0/1:-1764.08,0,-2028.01:1842:950:863:26903:30105:950,863 . 1/1:-4316.99,-471.894,0:1715:17:1672:51824:460:17,1672 0/1:-1335.75,0,-1603.22:1459:765:667:20802:24031:765,667 0/1:-1517.52,0,-1548.03:1498:736:736:23021:23470:736,736 0/1:-1960.55,0,-1969.5:1925:944:944:29617:29632:944,944 chr3 38592527 . G A 10244.01 . AB=0.468818;ABP=18.4482;AC=2;AF=0.5;AN=4;AO=857;CIGAR=1X;DP=3041;DPB=1828;DPRA=0;EPP=5.44529;EPPR=24.907;GTI=0;LEN=1;MEANALT=3;MQM=30.7573;MQMR=30.8112;NS=1;NUMALT=1;ODDS=2753.35;PAIRED=0.950992;PAIREDR=0.941899;PAO=0;PQA=0;PQR=0;PRO=0;QA=23851;QR=26577;RO=895;RPL=426;RPP=3.07365;RPPR=3.03214;RPR=431;RUN=1;SAF=463;SAP=15.0738;SAR=394;SF=0;SRF=502;SRP=31.8363;SRR=393;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.C5282T:p.T1761M,SCN5A:NM_001160161:exon27:c.C5174T:p.T1725M,SCN5A:NM_000335:exon28:c.C5333T:p.T1778M,SCN5A:NM_001099404:exon28:c.C5336T:p.T1779M,SCN5A:NM_001160160:exon28:c.C5237T:p.T1746M,SCN5A:NM_198056:exon28:c.C5336T:p.T1779M;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs199473634;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=3.305e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.495e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=78877;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.11;MutationAssessor_pred=M;FATHMM_score=-4.0;FATHMM_pred=D;PROVEAN_score=-5.55;PROVEAN_pred=D;VEST3_score=0.904;CADD_raw=6.023;CADD_phred=27.9;DANN_score=0.999;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=1.097;MetaSVM_pred=D;MetaLR_score=0.948;MetaLR_pred=D;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=4.82;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.933;SiPhy_29way_logOdds=18.087;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM055519#"Long_QT_syndrome";gnomAD_exome_ALL=4.061e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.371e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=6.467e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.674e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-1205.81,0,-1383.35:1828:895:857:23851:26577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-861.944,0,-984.231:1213:583:583:16637:17783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38595797 . A T 10628.60 . AB=0.484685;ABP=5.27176;AC=1;AF=0.5;AN=2;AO=538;CIGAR=1X;DP=1110;DPB=1110;DPRA=0;EPP=7.67614;EPPR=15.258;GTI=0;LEN=1;MEANALT=3;MQM=40.2323;MQMR=39.5881;NS=1;NUMALT=1;ODDS=2426.92;PAIRED=0.972119;PAIREDR=0.976619;PAO=0;PQA=0;PQR=0;PRO=0;QA=16638;QR=16722;RO=556;RPL=167;RPP=170.981;RPPR=129.549;RPR=371;RUN=1;SAF=389;SAP=235.495;SAR=149;SF=1;SRF=394;SRP=213.221;SRR=162;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon26:c.T4732A:p.F1578I,SCN5A:NM_001160161:exon26:c.T4624A:p.F1542I,SCN5A:NM_000335:exon27:c.T4783A:p.F1595I,SCN5A:NM_001099404:exon27:c.T4786A:p.F1596I,SCN5A:NM_198056:exon27:c.T4786A:p.F1596I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199473278;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=6.651e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=78817;CLNDN=Congenital_long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.032;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.93;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.995;MutationAssessor_pred=M;FATHMM_score=-5.29;FATHMM_pred=D;PROVEAN_score=-3.8;PROVEAN_pred=D;VEST3_score=0.96;CADD_raw=5.103;CADD_phred=25.3;DANN_score=0.992;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=1.083;MetaSVM_pred=D;MetaLR_score=0.973;MetaLR_pred=D;integrated_fitCons_score=0.693;integrated_confidence_value=0;GERP++_RS=3.98;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=13.063;GDI_full_10282015=.;dpsi_max_tissue=-0.2145;dpsi_zscore=-0.715;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM097680#"Long_QT_syndrome";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.977e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1112.63,0,-1097.81:1110:556:538:16638:16722:556,538 . . . . . . . . . . . . . . chr3 38597180 . G A 3531.73 . AB=0.450704;ABP=14.9993;AC=2;AF=0.5;AN=4;AO=256;CIGAR=1X;DP=1039;DPB=568;DPRA=0;EPP=33.5466;EPPR=68.2726;GTI=0;LEN=1;MEANALT=3;MQM=33.9492;MQMR=33.2687;NS=1;NUMALT=1;ODDS=779.667;PAIRED=0.886719;PAIREDR=0.914966;PAO=0;PQA=0;PQR=0;PRO=0;QA=6777;QR=8461;RO=294;RPL=68;RPP=125.156;RPPR=45.6716;RPR=188;RUN=1;SAF=140;SAP=7.89611;SAR=116;SF=0,1;SRF=177;SRP=29.5998;SRR=117;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon25:c.C4455T:p.S1485S,SCN5A:NM_001160161:exon25:c.C4347T:p.S1449S,SCN5A:NM_000335:exon26:c.C4506T:p.S1502S,SCN5A:NM_001099404:exon26:c.C4509T:p.S1503S,SCN5A:NM_001160160:exon26:c.C4506T:p.S1502S,SCN5A:NM_198056:exon26:c.C4509T:p.S1503S;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0045;1000g2015aug_all=0.00119808;avsnp147=rs45548237;Kaviar_AF=0.0030207;Kaviar_AC=467;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0004;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0080;ExAC_NFE=0.0044;ExAC_OTH=0.0022;ExAC_SAS=0.0005;CLNALLELEID=45424;CLNDN=Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1493;dpsi_zscore=-1.554;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0033;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0074;gnomAD_exome_NFE=0.0047;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0040;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0060;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-362.761,0,-483.755:568:294:256:6777:8461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-444.912,0,-486.158:471:236:229:7177:7317:236,229 . . . . . . . . . . . chr3 38601667 . C G 4556.83 . AB=0.493506;ABP=3.23591;AC=1;AF=0.5;AN=2;AO=304;CIGAR=1X;DP=616;DPB=616;DPRA=0;EPP=27.0394;EPPR=30.0339;GTI=0;LEN=1;MEANALT=3;MQM=33.3553;MQMR=33.5953;NS=1;NUMALT=1;ODDS=1049.25;PAIRED=0.934211;PAIREDR=0.913043;PAO=0;PQA=0;PQR=0;PRO=0;QA=8506;QR=8882;RO=299;RPL=112;RPP=48.7255;RPPR=89.2955;RPR=192;RUN=1;SAF=189;SAP=42.1254;SAR=115;SF=0;SRF=166;SRP=10.9191;SRR=133;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001160161:exon22:c.G4054C:p.G1352R,SCN5A:NM_000335:exon23:c.G4213C:p.G1405R,SCN5A:NM_001099404:exon23:c.G4216C:p.G1406R,SCN5A:NM_001099405:exon23:c.G4216C:p.G1406R,SCN5A:NM_001160160:exon23:c.G4213C:p.G1405R,SCN5A:NM_198056:exon23:c.G4216C:p.G1406R;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.42;MutationAssessor_pred=H;FATHMM_score=-4.49;FATHMM_pred=D;PROVEAN_score=-6.48;PROVEAN_pred=D;VEST3_score=0.993;CADD_raw=6.995;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=1.003;MetaSVM_pred=D;MetaLR_score=0.984;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.3;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=17.330;GDI_full_10282015=.;dpsi_max_tissue=0.5146;dpsi_zscore=1.146;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM023680#"Brugada_syndrome";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-474.158,0,-494.05:616:299:304:8506:8882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38620853 . G A 11737.90 . AB=0.453841;ABP=29.2715;AC=1;AF=0.5;AN=2;AO=644;CIGAR=1X;DP=1419;DPB=1419;DPRA=0;EPP=5.65383;EPPR=5.9672;GTI=0;LEN=1;MEANALT=3;MQM=39.7919;MQMR=40.3551;NS=1;NUMALT=1;ODDS=2702.75;PAIRED=0.945652;PAIREDR=0.957447;PAO=0;PQA=0;PQR=0;PRO=0;QA=18751;QR=23851;RO=752;RPL=304;RPP=7.38022;RPPR=20.5784;RPR=340;RUN=1;SAF=392;SAP=69.0986;SAR=252;SF=1;SRF=481;SRP=130.353;SRR=271;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon18:c.C3359T:p.A1120V,SCN5A:NM_001099404:exon18:c.C3362T:p.A1121V,SCN5A:NM_001099405:exon18:c.C3362T:p.A1121V,SCN5A:NM_001160160:exon18:c.C3359T:p.A1120V,SCN5A:NM_198056:exon18:c.C3362T:p.A1121V\x3bSCN5A:NM_000335:exon18:c.C3359T:p.A1120V,SCN5A:NM_001099404:exon18:c.C3362T:p.A1121V,SCN5A:NM_001099405:exon18:c.C3362T:p.A1121V,SCN5A:NM_001160160:exon18:c.C3359T:p.A1120V,SCN5A:NM_198056:exon18:c.C3362T:p.A1121V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751938579;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0009;ExAC_FIN=0;ExAC_NFE=3.934e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.72;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.463;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-3.77;FATHMM_pred=D;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.376;CADD_raw=0.264;CADD_phred=5.334;DANN_score=0.806;fathmm-MKL_coding_score=0.086;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.292;MetaSVM_pred=T;MetaLR_score=0.653;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-1.86;phyloP7way_vertebrate=-1.123;phyloP20way_mammalian=-0.769;phastCons7way_vertebrate=0.108;phastCons20way_mammalian=0.304;SiPhy_29way_logOdds=4.394;GDI_full_10282015=.;dpsi_max_tissue=-1.6039;dpsi_zscore=-1.758;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.457e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.138e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.985e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.568e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon18:c.C3359T:p.A1120V,SCN5A:NM_001099404:exon18:c.C3362T:p.A1121V,SCN5A:NM_001099405:exon18:c.C3362T:p.A1121V,SCN5A:NM_001160160:exon18:c.C3359T:p.A1120V,SCN5A:NM_198056:exon18:c.C3362T:p.A1121V\x3bSCN5A:NM_000335:exon18:c.C3359T:p.A1120V,SCN5A:NM_001099404:exon18:c.C3362T:p.A1121V,SCN5A:NM_001099405:exon18:c.C3362T:p.A1121V,SCN5A:NM_001160160:exon18:c.C3359T:p.A1120V,SCN5A:NM_198056:exon18:c.C3362T:p.A1121V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751938579;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0009;ExAC_FIN=0;ExAC_NFE=3.934e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.72;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.463;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-3.77;FATHMM_pred=D;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.376;CADD_raw=0.264;CADD_phred=5.334;DANN_score=0.806;fathmm-MKL_coding_score=0.086;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.292;MetaSVM_pred=T;MetaLR_score=0.653;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-1.86;phyloP7way_vertebrate=-1.123;phyloP20way_mammalian=-0.769;phastCons7way_vertebrate=0.108;phastCons20way_mammalian=0.304;SiPhy_29way_logOdds=4.394;GDI_full_10282015=.;dpsi_max_tissue=-1.6039;dpsi_zscore=-1.758;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.457e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.138e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.985e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.568e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1190.66,0,-1639.81:1419:752:644:18751:23851:752,644 . . . . . . . . . chr3 38620946 . G A 6932.77 . AB=0.432742;ABP=40.6907;AC=2;AF=0.5;AN=4;AO=415;CIGAR=1X;DP=2598;DPB=959;DPRA=0;EPP=20.0106;EPPR=120.288;GTI=0;LEN=1;MEANALT=3;MQM=32.2627;MQMR=34.3165;NS=1;NUMALT=1;ODDS=1116.9;PAIRED=0.93253;PAIREDR=0.93038;PAO=0;PQA=0;PQR=0;PRO=0;QA=9874;QR=14151;RO=474;RPL=264;RPP=69.8236;RPPR=10.3402;RPR=151;RUN=1;SAF=175;SAP=25.1175;SAR=240;SF=0;SRF=204;SRP=22.9659;SRR=270;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon18:c.C3266T:p.P1089L,SCN5A:NM_001099404:exon18:c.C3269T:p.P1090L,SCN5A:NM_001099405:exon18:c.C3269T:p.P1090L,SCN5A:NM_001160160:exon18:c.C3266T:p.P1089L,SCN5A:NM_198056:exon18:c.C3269T:p.P1090L;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=8e-05;esp6500siv2_ea=.;esp6500siv2_all=8e-05;esp6500siv2_ea=.;1000g2015aug_all=0.00439297;avsnp147=rs1805125;Kaviar_AF=0.0014877;Kaviar_AC=230;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0205;ExAC_FIN=0;ExAC_NFE=4.901e-05;ExAC_OTH=0.0012;ExAC_SAS=0.0010;CLNALLELEID=57461;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.19;SIFT_pred=T;Polyphen2_HDIV_score=0.056;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=-3.68;FATHMM_pred=D;PROVEAN_score=-0.76;PROVEAN_pred=N;VEST3_score=0.275;CADD_raw=0.558;CADD_phred=7.862;DANN_score=0.676;fathmm-MKL_coding_score=0.132;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.349;MetaSVM_pred=T;MetaLR_score=0.605;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-0.553;phyloP7way_vertebrate=-0.269;phyloP20way_mammalian=-0.942;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=0.767;GDI_full_10282015=.;dpsi_max_tissue=-0.3638;dpsi_zscore=-0.940;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM058368#"Negative_shift_activation";gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=6.76e-05;gnomAD_exome_AMR=5.973e-05;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0.0205;gnomAD_exome_FIN=4.498e-05;gnomAD_exome_NFE=3.645e-05;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0259;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.678e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-504.375,0,-835.802:959:474:415:9874:14151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-921.858,0,-1430.34:1639:816:716:17726:24257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38622467 . T C 12659.42 . AB=0;ABP=0;AC=211;AF=1;AN=228;AO=483;CIGAR=1X;DP=76128;DPB=501;DPRA=0;EPP=24.4148;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=31.3333;MQMR=42;NS=1;NUMALT=1;ODDS=666.957;PAIRED=0.795031;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13300;QR=14;RO=1;RPL=286;RPP=38.6215;RPPR=5.18177;RPR=197;RUN=1;SAF=255;SAP=6.28774;SAR=228;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099404:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099405:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160160:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160161:exon17:c.A3183G:p.E1061E,SCN5A:NM_198056:exon17:c.A3183G:p.E1061E;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.8850;esp6500siv2_ea=0.8830;esp6500siv2_all=0.8850;esp6500siv2_ea=0.8830;1000g2015aug_all=0.923123;avsnp147=rs7430407;Kaviar_AF=0.898106;Kaviar_AC=138849;Kaviar_AN=154602;ExAC_ALL=0.9128;ExAC_AFR=0.8880;ExAC_AMR=0.9542;ExAC_EAS=0.9990;ExAC_FIN=0.9254;ExAC_NFE=0.8898;ExAC_OTH=0.9195;ExAC_SAS=0.9410;CLNALLELEID=57460;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.2623;dpsi_zscore=-1.977;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS1510231#"Long_QT_syndrome";gnomAD_exome_ALL=0.9140;gnomAD_exome_AFR=0.8882;gnomAD_exome_AMR=0.9447;gnomAD_exome_ASJ=0.8678;gnomAD_exome_EAS=0.9992;gnomAD_exome_FIN=0.9283;gnomAD_exome_NFE=0.8897;gnomAD_exome_OTH=0.9012;gnomAD_exome_SAS=0.9399;gnomAD_genome_ALL=0.9032;gnomAD_genome_AFR=0.8836;gnomAD_genome_AMR=0.9284;gnomAD_genome_ASJ=0.8742;gnomAD_genome_EAS=0.9994;gnomAD_genome_FIN=0.9242;gnomAD_genome_NFE=0.8978;gnomAD_genome_OTH=0.9155;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-986.156,-144.438,0:501:1:483:13300:14 1/1:-1480.99,-209.286,0:726:3:709:19907:71 1/1:-1222.04,-169.958,0:598:3:580:16083:62 1/1:-897.278,-124.767,0:438:1:424:11911:36 1/1:-1216.25,-184.23,0:627:0:612:17067:0 1/1:-2001.8,-284.277,0:991:4:966:27005:87 0/1:-443.685,0,-380.269:549:258:267:7692:7068 1/1:-1537.78,-221.873,0:774:4:751:21087:81 1/1:-1361.5,-193.146,0:658:1:643:18154:32 1/1:-1384.88,-191.389,0:658:2:643:18581:68 1/1:-1154.34,-161.843,0:566:1:547:15420:36 1/1:-1281.43,-176.465,0:621:3:606:16940:77 0/1:-422.052,0,-497.55:633:314:295:8159:8885 1/1:-1118.24,-162.651,0:565:2:552:15280:46 0/1:-396.335,0,-390.814:536:254:266:7618:7207 0/1:-791.19,0,-759.51:1015:492:491:14118:13996 1/1:-986.765,-143.29,0:491:0:476:13183:0 1/1:-2903.46,-416.634,0:1431:4:1397:38938:69 1/1:-1496.45,-199.662,0:700:4:684:19637:127 1/1:-1088.62,-151.67,0:519:2:505:14421:35 1/1:-955.935,-133.958,0:456:0:445:12547:0 1/1:-1525.9,-216.441,0:739:0:719:20383:0 1/1:-722.599,-109.551,0:379:1:367:10018:14 1/1:-1705.55,-239.319,0:813:0:795:22437:0 0/1:-530.559,0,-528.049:764:357:374:9938:10056 1/1:-1128.8,-161.898,0:563:1:541:14999:14 1/1:-1553.82,-209.16,0:771:8:746:21229:209 0/1:-502.309,0,-661.481:723:383:318:9287:11065 0/1:-413.455,0,-272.591:506:214:264:7358:5902 1/1:-946.961,-129.705,0:458:2:450:12765:72 1/1:-1209.01,-174.579,0:597:1:587:16049:27 1/1:-1583.64,-219.802,0:765:3:748:21349:71 1/1:-1645.96,-232.997,0:792:0:774:21860:0 1/1:-1616.94,-234.502,0:796:0:779:21969:0 . 0/1:-686.47,0,-552.642:834:377:431:12236:10799 1/1:-2049.82,-293.203,0:996:0:974:27123:0 1/1:-1110.41,-155.633,0:526:0:517:14759:0 1/1:-1373.93,-196.021,0:666:1:651:18083:14 1/1:-975.475,-137.872,0:464:0:458:12764:0 1/1:-1637.06,-228.726,0:782:1:763:21649:14 1/1:-1255.52,-178.135,0:620:2:599:16748:50 1/1:-1446.95,-205.881,0:708:2:690:19581:28 1/1:-1302.28,-179.892,0:623:1:606:16921:32 1/1:-1601.41,-216.243,0:771:4:748:21527:122 1/1:-1437.56,-207.999,0:716:1:694:19318:14 0/1:-470.541,0,-620.044:768:401:331:9114:11190 1/1:-951.755,-128.841,0:438:0:428:12449:0 1/1:-1107.1,-141.972,0:514:3:499:14395:104 1/1:-1599.69,-232.696,0:794:0:773:21645:0 1/1:-1598.33,-227.803,0:782:2:764:21600:50 0/1:-471.684,0,-411.357:648:295:327:9017:8054 1/1:-1608.35,-222.762,0:759:0:740:21213:0 1/1:-1623.26,-227.078,0:774:1:759:21517:21 1/1:-1060.1,-156.837,0:533:0:521:14339:0 1/1:-1318.96,-177.307,0:602:0:589:17023:0 1/1:-1524.08,-213.181,0:739:1:714:19990:36 1/1:-759.563,-113.789,0:390:0:378:10361:0 1/1:-1085.98,-154.127,0:522:0:512:14322:0 1/1:-1516.73,-221.021,0:768:3:746:20731:64 1/1:-909.941,-140.933,0:481:1:468:12453:14 1/1:-1813.45,-258.466,0:891:3:866:24450:42 1/1:-1349.92,-185.249,0:653:4:628:18161:87 1/1:-935.573,-140.28,0:481:0:466:12586:0 1/1:-1703.72,-243.895,0:831:2:817:22530:41 1/1:-1715.7,-239.563,0:817:1:799:22654:14 1/1:-741.095,-114.692,0:398:0:381:10243:0 1/1:-1336.56,-187.24,0:676:4:646:17871:96 1/1:-1451,-211.81,0:725:1:705:19794:36 1/1:-1287.69,-184.832,0:633:0:614:17148:0 1/1:-1411.27,-202.861,0:705:3:682:19112:67 1/1:-1811.39,-254.237,0:873:2:849:24120:41 1/1:-1447.41,-207.711,0:710:2:696:19502:72 1/1:-755.534,-117.101,0:407:0:389:10771:0 0/1:-464.375,0,-450.97:614:300:291:8424:8473 1/1:-1618.95,-237.863,0:824:2:807:22178:64 1/1:-1515.29,-215.783,0:745:1:720:20158:14 1/1:-1630.32,-229.577,0:792:1:772:21904:36 1/1:-944.266,-131.55,0:447:0:437:12558:0 1/1:-815.927,-111.051,0:411:4:396:11046:114 1/1:-1382.66,-197.153,0:672:1:658:18184:14 0/1:-632.094,0,-551.197:837:369:420:11992:10494 1/1:-1706.79,-236.451,0:839:5:813:22436:139 1/1:-1231.84,-174.177,0:611:2:591:16189:50 1/1:-1228.3,-190.301,0:653:1:632:17207:14 1/1:-1377.52,-200.185,0:681:0:665:18696:0 0/1:-336.57,0,-335.602:491:240:227:6443:6529 1/1:-1417.99,-200.642,0:736:7:712:19536:207 1/1:-804.822,-115.253,0:403:1:384:10927:14 1/1:-1226.28,-173.143,0:591:1:575:16302:14 1/1:-1692.01,-233.977,0:846:6:817:22865:163 1/1:-1332.25,-187.727,0:639:1:625:17631:36 0/1:-674.68,0,-612.383:839:377:423:12048:10884 1/1:-1665.64,-238.103,0:818:1:794:22115:14 1/1:-1502.59,-220.341,0:752:1:735:20337:14 . 1/1:-1798.96,-213.43,0:727:0:709:21959:0:0,709 1/1:-1747.1,-204.098,0:695:0:678:20842:0:0,678 1/1:-1826.97,-213.731,0:723:0:710:21698:0:0,710 0/1:-429.472,0,-430.192:446:219:219:6791:6652:219,219 1/1:-1417.05,-164.964,0:556:0:548:16868:0:0,548 1/1:-1691.55,-200.486,0:680:0:666:20033:0:0,666 1/1:-1724.03,-205.603,0:694:0:683:20708:0:0,683 1/1:-1799.45,-206.552,0:706:2:696:21462:68:2,696 1/1:-1599.82,-178.987,0:618:2:610:18893:72:2,610 1/1:-1886.63,-217.631,0:736:1:726:22515:14:1,726 1/1:-1933.12,-228.094,0:772:1:763:23313:21:1,763 1/1:-1244,-143.591,0:488:0:477:14699:0:0,477 1/1:-1632.3,-188.708,0:641:1:628:19394:14:1,628 0/1:-695.992,0,-559.077:640:289:336:10459:8888:289,336 1/1:-1907.03,-216.621,0:748:1:728:22665:32:1,728 1/1:-1644.08,-190.552,0:643:0:633:19386:0:0,633 1/1:-1797.68,-210.366,0:714:1:702:21409:14:1,702 1/1:-1577.89,-179.7,0:629:2:616:18792:72:2,616 1/1:-1414.69,-156.291,0:570:4:553:16876:129:4,553 0/1:-740.266,0,-639.439:724:337:368:11281:10103:337,368 chr3 38622868 . G A 6761.07 . AB=0.48883;ABP=3.83495;AC=7;AF=0.5;AN=14;AO=372;CIGAR=1X;DP=6163;DPB=761;DPRA=0;EPP=10.5754;EPPR=13.7745;GTI=0;LEN=1;MEANALT=3;MQM=35.9167;MQMR=35.0054;NS=1;NUMALT=1;ODDS=1455.51;PAIRED=0.876344;PAIREDR=0.839142;PAO=0;PQA=0;PQR=0;PRO=0;QA=10783;QR=11561;RO=373;RPL=243;RPP=78.8717;RPPR=105.989;RPR=129;RUN=1;SAF=169;SAP=9.75821;SAR=203;SF=0;SRF=169;SRP=10.1418;SRR=204;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0459;esp6500siv2_ea=0.0430;esp6500siv2_all=0.0459;esp6500siv2_ea=0.0430;1000g2015aug_all=0.0323482;avsnp147=rs41260344;Kaviar_AF=0.0328133;Kaviar_AC=5073;Kaviar_AN=154602;ExAC_ALL=0.0396;ExAC_AFR=0.0613;ExAC_AMR=0.0190;ExAC_EAS=0.0003;ExAC_FIN=0.0335;ExAC_NFE=0.0440;ExAC_OTH=0.0388;ExAC_SAS=0.0489;CLNALLELEID=57459;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.7183;dpsi_zscore=2.548;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0326;gnomAD_exome_AFR=0.0529;gnomAD_exome_AMR=0.0180;gnomAD_exome_ASJ=0.0382;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0287;gnomAD_exome_NFE=0.0386;gnomAD_exome_OTH=0.0381;gnomAD_exome_SAS=0.0364;gnomAD_genome_ALL=0.0391;gnomAD_genome_AFR=0.0555;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0335;gnomAD_genome_NFE=0.0366;gnomAD_genome_OTH=0.0306;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-648.924,0,-678.893:761:373:372:10783:11561 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-739.565,0,-907.818:989:490:448:13285:15062 . . . . . . . . . . . . . . . . . 0/1:-713.082,0,-701.025:871:412:439:12509:12518 . . . . . . . . . . . . . . . . . . . . . . 0/1:-659.465,0,-827.316:814:416:384:11493:13330 . . . . . . 0/1:-726.409,0,-1055.01:1027:550:449:13165:17077 . . . . 0/1:-578.46,0,-552.728:621:292:314:9315:9164 . . . . . 0/1:-819.207,0,-1132.66:1080:573:480:14324:17913 . . . . . . . . . . . . . . . . . . . . . . . chr3 38627130 . GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGC TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,TGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGC 1232.89 . AB=0;ABP=0;AC=12,2,2,0,0,0;AF=1;AN=22;AO=8;CIGAR=1X2M3X2M1X2M3X2M1X3M2X2M1I2M;DP=300;DPB=86.4615;DPRA=0;EPP=7.35324;EPPR=3.73412;GTI=0;LEN=27;MEANALT=14;MQM=11.125;MQMR=41.3333;NS=1;NUMALT=1;ODDS=198.37;PAIRED=0.75;PAIREDR=1;PAO=184;PQA=5662.5;PQR=1485.5;PRO=50;QA=89;QR=105;RO=3;RPL=0;RPP=20.3821;RPPR=3.73412;RPR=8;RUN=1;SAF=6;SAP=7.35324;SAR=2;SF=1;SRF=2;SRP=3.73412;SRR=1;TYPE=complex;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.211062;avsnp147=rs144423561;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0409345;avsnp147=rs144423561;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2228;dpsi_zscore=0.766;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:24:3:8,.,.,.,.,.:89,.,.,.,.,.:105:3,8 . 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:17:1:6,.,.,.,.,.:74,.,.,.,.,.:32:1,6 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-303.46:139:131:.,.,.,.,.,8:.,.,.,.,.,171:3855:131,8 . . . 0/0:0,-14.5373,-1.0133,.,.,.,.,.,.,.,-14.8766,-16.6694,.,.,-2.55475,-13.959,-17.082,.,.,-17.4174,-2.53936,.,.,.,.,.,.,.:20:0:6,.,.,2,2,.:73,.,.,46,31,.:0:0,2,6,2 . 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:16:2:6,.,.,.,.,.:84,.,.,.,.,.:70:2,6 0/0:.,.,-6.87076,.,.,.,.,.,.,.,.,-123.671,.,.,-11.5174,.,.,.,.,.,.,.,.,.,.,.,.,.:18:2:7,.,.,2,.,.:107,.,.,46,.,.:60:2,2,7 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:9:1:5,.,.,.,.,.:66,.,.,.,.,.:26:1,5 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:9:3:2,.,.,.,.,.:26,.,.,.,.,.:81:3,2 . 3/3:-1.70003,.,.,.,.,.,-9.63296,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:16:0:.,.,2,.,.,.:.,.,22,.,.,.:0:0,2 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:15:2:3,.,.,.,.,.:39,.,.,.,.,.:54:2,3 . . 2/2:-2.2848,.,.,-9.0309,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:17:0:.,2,.,.,.,.:.,31,.,.,.,.:0:0,2 . chr3 38639300 . C T 15046.70 . AB=0.44709;ABP=48.9674;AC=1;AF=0.5;AN=2;AO=845;CIGAR=1X;DP=1890;DPB=1890;DPRA=0;EPP=4.61642;EPPR=36.7361;GTI=0;LEN=1;MEANALT=3;MQM=37.0556;MQMR=37.9323;NS=1;NUMALT=1;ODDS=3464.64;PAIRED=0.904142;PAIREDR=0.920202;PAO=0;PQA=0;PQR=0;PRO=0;QA=25149;QR=31012;RO=990;RPL=310;RPP=133.106;RPPR=177.439;RPR=535;RUN=1;SAF=427;SAP=3.21845;SAR=418;SF=0;SRF=489;SRP=3.32615;SRR=501;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon14:c.G2182A:p.V728I,SCN5A:NM_001099404:exon14:c.G2182A:p.V728I,SCN5A:NM_001099405:exon14:c.G2182A:p.V728I,SCN5A:NM_001160160:exon14:c.G2182A:p.V728I,SCN5A:NM_001160161:exon14:c.G2182A:p.V728I,SCN5A:NM_198056:exon14:c.G2182A:p.V728I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.073;SIFT_pred=T;Polyphen2_HDIV_score=0.937;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.305;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.92;MutationAssessor_pred=M;FATHMM_score=-4.36;FATHMM_pred=D;PROVEAN_score=-0.95;PROVEAN_pred=N;VEST3_score=0.725;CADD_raw=3.459;CADD_phred=23.0;DANN_score=0.999;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_pred=D;MetaSVM_score=0.930;MetaSVM_pred=D;MetaLR_score=0.857;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.68;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=17.753;GDI_full_10282015=.;dpsi_max_tissue=-0.0779;dpsi_zscore=-0.377;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM133678#"Brugada_syndrome";gnomAD_exome_ALL=8.123e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.954e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1528.91,0,-2018.27:1890:990:845:25149:31012 . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38645189 . C T 292.99 . AB=0.43038;ABP=6.33623;AC=1;AF=0.5;AN=2;AO=34;CIGAR=1X;DP=79;DPB=79;DPRA=0;EPP=4.03217;EPPR=3.20771;GTI=0;LEN=1;MEANALT=2;MQM=26.2941;MQMR=31.5455;NS=1;NUMALT=1;ODDS=67.4626;PAIRED=0.882353;PAIREDR=0.931818;PAO=0;PQA=0;PQR=0;PRO=0;QA=1038;QR=1421;RO=44;RPL=13;RPP=7.09778;RPPR=10.1169;RPR=21;RUN=1;SAF=30;SAP=46.1843;SAR=4;SF=0;SRF=33;SRP=26.8965;SRR=11;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=.;esp6500siv2_all=0.0024;esp6500siv2_ea=.;1000g2015aug_all=0.00239617;avsnp147=rs145427253;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0081;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.294e-05;ExAC_OTH=0.0027;ExAC_SAS=0.0011;CLNALLELEID=173789;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7437;dpsi_zscore=1.880;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0085;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.828e-05;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0024;gnomAD_genome_AFR=0.0079;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.676e-05;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-40.4224,0,-76.0073:79:44:34:1038:1421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38645283 . G C 1594.57 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=142;CIGAR=1X;DP=284;DPB=284;DPRA=0;EPP=13.3477;EPPR=44.9507;GTI=0;LEN=1;MEANALT=3;MQM=30.1408;MQMR=32.9;NS=1;NUMALT=1;ODDS=367.162;PAIRED=0.992958;PAIREDR=0.971429;PAO=0;PQA=0;PQR=0;PRO=0;QA=3677;QR=4369;RO=140;RPL=56;RPP=16.7732;RPPR=51.6513;RPR=86;RUN=1;SAF=132;SAP=230.617;SAR=10;SF=0;SRF=126;SRP=197.574;SRR=14;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.C1810G:p.L604V,SCN5A:NM_001099404:exon12:c.C1810G:p.L604V,SCN5A:NM_001099405:exon12:c.C1810G:p.L604V,SCN5A:NM_001160160:exon12:c.C1810G:p.L604V,SCN5A:NM_001160161:exon12:c.C1810G:p.L604V,SCN5A:NM_198056:exon12:c.C1810G:p.L604V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.866;Polyphen2_HVAR_pred=P;LRT_score=0.461;LRT_pred=N;MutationTaster_score=0.565;MutationTaster_pred=D;MutationAssessor_score=0.66;MutationAssessor_pred=N;FATHMM_score=-2.59;FATHMM_pred=D;PROVEAN_score=0.24;PROVEAN_pred=N;VEST3_score=0.57;CADD_raw=2.190;CADD_phred=17.44;DANN_score=0.965;fathmm-MKL_coding_score=0.830;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.143;MetaSVM_pred=T;MetaLR_score=0.528;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=3.28;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.062;phastCons7way_vertebrate=0.723;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=3.132;GDI_full_10282015=.;dpsi_max_tissue=-1.1167;dpsi_zscore=-1.538;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.377e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.549e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-195.466,0,-243.736:284:140:142:3677:4369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38645420 . T C 14388.32 . AB=0.479339;ABP=7.04816;AC=55;AF=0.5;AN=94;AO=522;CIGAR=1X;DP=64336;DPB=1089;DPRA=0;EPP=7.27005;EPPR=78.1789;GTI=0;LEN=1;MEANALT=3;MQM=33.7931;MQMR=34.7984;NS=1;NUMALT=1;ODDS=1853.59;PAIRED=0.885057;PAIREDR=0.90411;PAO=0;PQA=0;PQR=0;PRO=0;QA=14891;QR=15066;RO=511;RPL=172;RPP=134.813;RPPR=192.2;RPR=350;RUN=1;SAF=349;SAP=131.868;SAR=173;SF=0,1;SRF=366;SRP=210.558;SRR=145;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.A1673G:p.H558R,SCN5A:NM_001099404:exon12:c.A1673G:p.H558R,SCN5A:NM_001099405:exon12:c.A1673G:p.H558R,SCN5A:NM_001160160:exon12:c.A1673G:p.H558R,SCN5A:NM_001160161:exon12:c.A1673G:p.H558R,SCN5A:NM_198056:exon12:c.A1673G:p.H558R;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2463;esp6500siv2_ea=0.2321;esp6500siv2_all=0.2463;esp6500siv2_ea=0.2321;1000g2015aug_all=0.230431;avsnp147=rs1805124;Kaviar_AF=0.219577;Kaviar_AC=33947;Kaviar_AN=154602;ExAC_ALL=0.2217;ExAC_AFR=0.2880;ExAC_AMR=0.2139;ExAC_EAS=0.0993;ExAC_FIN=0.2024;ExAC_NFE=0.2246;ExAC_OTH=0.2152;ExAC_SAS=0.2483;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-2.085;MutationAssessor_pred=N;FATHMM_score=-3.39;FATHMM_pred=D;PROVEAN_score=3.92;PROVEAN_pred=N;VEST3_score=0.29;CADD_raw=-1.102;CADD_phred=0.010;DANN_score=0.286;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.924;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=2.44;phyloP7way_vertebrate=-0.763;phyloP20way_mammalian=-1.897;phastCons7way_vertebrate=0.961;phastCons20way_mammalian=0.751;SiPhy_29way_logOdds=15.575;GDI_full_10282015=.;dpsi_max_tissue=0.7396;dpsi_zscore=1.342;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM031355#"Phenotype_modifier_association_with";gnomAD_exome_ALL=0.2208;gnomAD_exome_AFR=0.2930;gnomAD_exome_AMR=0.2163;gnomAD_exome_ASJ=0.2005;gnomAD_exome_EAS=0.0940;gnomAD_exome_FIN=0.2006;gnomAD_exome_NFE=0.2301;gnomAD_exome_OTH=0.2274;gnomAD_exome_SAS=0.2473;gnomAD_genome_ALL=0.2453;gnomAD_genome_AFR=0.2934;gnomAD_genome_AMR=0.2315;gnomAD_genome_ASJ=0.2152;gnomAD_genome_EAS=0.1072;gnomAD_genome_FIN=0.2009;gnomAD_genome_NFE=0.2467;gnomAD_genome_OTH=0.2051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-841.306,0,-860.747:1089:511:522:14891:15066 0/1:-1317.35,0,-1175.87:1577:719:788:22976:21398 0/1:-1000.93,0,-1106.84:1336:651:618:17717:18951 . . 0/1:-1420.25,0,-1418.79:1764:827:851:24652:24354 1/1:-2702.26,-339.38,0:1251:12:1203:34687:327 0/1:-1159.17,0,-1245.75:1530:739:724:20823:21546 . 1/1:-3312.08,-387.691,0:1555:31:1480:43355:862 . . . 0/1:-841.898,0,-781.57:1038:472:516:14886:13901 . . 0/1:-740.713,0,-750.468:998:464:480:13681:13466 . 0/1:-991.175,0,-969.417:1216:577:585:16997:16995 0/1:-786.324,0,-783.694:990:465:489:14057:13698 . . . 0/1:-1505.69,0,-1352.9:1763:804:888:25501:23575 0/1:-1183.51,0,-1310.94:1574:777:722:21115:22565 0/1:-805.903,0,-646.048:963:433:496:14259:12381 0/1:-1071.27,0,-1225.6:1414:717:638:19177:20833 . . . . . 0/1:-1347.99,0,-1198.03:1559:711:791:22731:21204 0/1:-1100.39,0,-1049.13:1399:658:671:19290:18740 . . . 1/1:-2787.48,-340.222,0:1242:14:1194:35577:355 . 0/1:-668.402,0,-677.698:825:394:398:11563:11702 . 0/1:-1121.5,0,-867.675:1264:548:660:19020:16119 0/1:-1226.7,0,-1145.54:1469:672:734:20882:19721 0/1:-884.146,0,-958.566:1153:564:550:15763:16529 . . 0/1:-1126.2,0,-1181.15:1453:688:706:20194:20520 0/1:-638.059,0,-655.965:795:384:382:11087:11142 . . 0/1:-1295.59,0,-1396.55:1651:810:773:22289:23846 . 0/1:-1387.15,0,-1410.65:1712:829:808:23953:24057 0/1:-1477.97,0,-1335.24:1746:803:871:25383:23564 . 0/1:-880.672,0,-835.055:1082:490:548:15593:14365 . . . . . . . . . . . . 1/1:-2643.72,-330.759,0:1220:14:1175:34395:350 0/1:-1119.09,0,-933.103:1365:611:700:19649:17397 . . 0/1:-1314.85,0,-1178.55:1546:714:754:22163:20919 . 0/1:-1043.49,0,-926.279:1231:560:623:18045:16436 . . 1/1:-3479.71,-433.777,0:1601:19:1543:45024:572 0/1:-741.427,0,-554.111:816:355:424:12425:10291 . 0/1:-1166.36,0,-1324.85:1572:776:738:20905:22808 0/1:-1083.39,0,-1425.39:1589:816:692:19953:23873 . . . . 0/1:-808.797,0,-917.788:1062:534:479:14327:15581 1/1:-2860.83,-340.569,0:1401:33:1328:38165:906 . . . 0/1:-1117.73,0,-946.597:1299:587:651:19063:16658 . . 0/1:-1252.02,0,-1328.85:1602:784:749:22140:23206 . 0/1:-1705.07,0,-1820.55:1758:883:842:26450:27488:883,842 0/1:-1646.65,0,-1665.89:1630:805:786:25007:25226:805,786 . . 0/1:-1477.26,0,-1568.92:1481:752:709:22385:23648:752,709 . 1/1:-3852.64,-390.853,0:1467:18:1429:45538:508:18,1429 . . . 1/1:-3893.57,-391.211,0:1520:23:1475:46671:678:23,1475 0/1:-1197.93,0,-1384.73:1246:654:576:18175:20539:654,576 . . . 0/1:-1453.26,0,-1639.86:1522:777:718:22509:24723:777,718 . . . . chr3 38645522 . G T 8511.35 . AB=0.457868;ABP=18.1974;AC=2;AF=0.5;AN=4;AO=451;CIGAR=1X;DP=2467;DPB=985;DPRA=0;EPP=37.7972;EPPR=59.6299;GTI=0;LEN=1;MEANALT=3;MQM=32.6031;MQMR=33.6667;NS=1;NUMALT=1;ODDS=1389.45;PAIRED=0.900222;PAIREDR=0.933333;PAO=0;PQA=0;PQR=0;PRO=0;QA=11877;QR=15723;RO=525;RPL=317;RPP=164.253;RPPR=173.456;RPR=134;RUN=1;SAF=186;SAP=33.0594;SAR=265;SF=0;SRF=214;SRP=41.9272;SRR=311;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.C1571A:p.S524Y,SCN5A:NM_001099404:exon12:c.C1571A:p.S524Y,SCN5A:NM_001099405:exon12:c.C1571A:p.S524Y,SCN5A:NM_001160160:exon12:c.C1571A:p.S524Y,SCN5A:NM_001160161:exon12:c.C1571A:p.S524Y,SCN5A:NM_198056:exon12:c.C1571A:p.S524Y;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0008;1000g2015aug_all=0.0113818;avsnp147=rs41313691;Kaviar_AF=0.0036028;Kaviar_AC=557;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0492;ExAC_AMR=0.0019;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.005;ExAC_SAS=0.0002;CLNALLELEID=57450;CLNDN=Long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|Brugada_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN029323,OMIM:601144|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.518;LRT_pred=N;MutationTaster_score=0.873;MutationTaster_pred=N;MutationAssessor_score=2.175;MutationAssessor_pred=M;FATHMM_score=-2.9;FATHMM_pred=D;PROVEAN_score=-2.35;PROVEAN_pred=N;VEST3_score=0.616;CADD_raw=2.438;CADD_phred=19.07;DANN_score=0.994;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.164;MetaSVM_pred=T;MetaLR_score=0.485;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.06;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.870;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=10.149;GDI_full_10282015=.;dpsi_max_tissue=-0.3115;dpsi_zscore=-0.870;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM068609#"Sudden_infant_death_syndrome";gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0379;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0119;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0030;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0108;gnomAD_genome_AFR=0.0368;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-635.583,0,-904.998:985:525:451:11877:15723 . 0/1:-1133.62,0,-1316.05:1482:746:724:19735:22109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38647642 . G T 10268.54 . AB=0.507246;ABP=3.41942;AC=48;AF=0.5;AN=82;AO=455;CIGAR=1X;DP=47139;DPB=897;DPRA=0;EPP=6.48943;EPPR=91.7197;GTI=0;LEN=1;MEANALT=3;MQM=34.2352;MQMR=33.2425;NS=1;NUMALT=1;ODDS=1445.95;PAIRED=0.938462;PAIREDR=0.953811;PAO=0;PQA=0;PQR=0;PRO=0;QA=11472;QR=12127;RO=433;RPL=312;RPP=139.317;RPPR=22.9146;RPR=143;RUN=1;SAF=136;SAP=162.835;SAR=319;SF=0,1;SRF=136;SRP=133.003;SRR=297;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.1664;esp6500siv2_ea=0.1850;esp6500siv2_all=0.1664;esp6500siv2_ea=0.1850;1000g2015aug_all=0.151158;avsnp147=rs41312433;Kaviar_AF=0.169442;Kaviar_AC=26196;Kaviar_AN=154602;ExAC_ALL=0.1722;ExAC_AFR=0.1257;ExAC_AMR=0.1836;ExAC_EAS=0.0956;ExAC_FIN=0.1792;ExAC_NFE=0.1847;ExAC_OTH=0.1757;ExAC_SAS=0.1783;CLNALLELEID=57444;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.6962;dpsi_zscore=-2.292;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS057601#"Longer_QT_interval_association_with";gnomAD_exome_ALL=0.1721;gnomAD_exome_AFR=0.1262;gnomAD_exome_AMR=0.1834;gnomAD_exome_ASJ=0.1508;gnomAD_exome_EAS=0.0902;gnomAD_exome_FIN=0.1776;gnomAD_exome_NFE=0.1870;gnomAD_exome_OTH=0.1786;gnomAD_exome_SAS=0.1760;gnomAD_genome_ALL=0.1745;gnomAD_genome_AFR=0.1281;gnomAD_genome_AMR=0.1866;gnomAD_genome_ASJ=0.1722;gnomAD_genome_EAS=0.1038;gnomAD_genome_FIN=0.1742;gnomAD_genome_NFE=0.2089;gnomAD_genome_OTH=0.1701;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-665.926,0,-661.336:897:433:455:11472:12127 0/1:-994.192,0,-1138.38:1378:681:681:17506:19792 . . . 0/1:-1092.55,0,-1291.34:1526:761:746:19185:22060 . 0/1:-754.491,0,-1145.55:1251:683:546:14028:19357 . 1/1:-1961.04,-203.407,0:1146:81:1046:26791:1635 . . . 0/1:-598.803,0,-710.64:895:449:436:10978:13072 . . 0/1:-591.158,0,-697.779:851:420:425:10798:12148 . 0/1:-712.761,0,-998.44:1083:573:495:12494:16950 0/1:-552.445,0,-683.455:814:410:396:9853:11921 . . . 0/1:-882.934,0,-1195.29:1326:691:625:15866:19868 0/1:-931.255,0,-1049.31:1318:646:653:16504:18215 0/1:-533.079,0,-721.74:907:466:422:10447:13187 0/1:-791.899,0,-1161.83:1252:667:564:14300:19427 . . . . . 0/1:-828.433,0,-1090.32:1255:639:596:14994:18291 0/1:-767.206,0,-979.932:1152:581:555:14069:16632 . . . 1/1:-1840.07,-207.621,0:991:55:922:23671:1041 . 0/1:-614.362,0,-587.355:778:360:413:10348:10503 . 0/1:-806.454,0,-900.739:1135:556:562:13971:15687 0/1:-768.73,0,-1053.54:1177:620:543:13982:17543 0/1:-788.229,0,-958.127:1138:571:551:13920:16340 . . 0/1:-846.707,0,-972.591:1177:576:587:14840:16828 0/1:-576.598,0,-635.495:799:393:400:10016:11161 . . 0/1:-885.702,0,-1182.6:1331:694:621:16010:19967 . 0/1:-813.569,0,-1356.21:1381:770:599:15282:22475 0/1:-907.778,0,-1196.18:1377:704:654:16205:20421 . 0/1:-618.798,0,-795.909:899:457:421:10933:13281 . . . . . . . . . . . . 1/1:-1934.07,-204.232,0:1145:89:1035:25409:1574 0/1:-891.836,0,-1008.03:1271:623:621:15587:18018 . . 0/1:-917.713,0,-1083.04:1269:639:619:15918:18675 . . . . 1/1:-2392.97,-271.21,0:1378:93:1268:31648:1721 0/1:-532.942,0,-667.388:785:405:369:9482:11761 . 0/1:-901.807,0,-995.55:1262:614:637:15871:17478 . . . . . . 1/1:-2061.4,-188.728,0:1197:107:1069:27301:2155 . . . 0/1:-677.099,0,-1070.17:1101:609:480:12423:17876 . . . . 0/1:-1091.6,0,-1602.09:1400:778:619:17744:23467:778,619 0/1:-1115.9,0,-1255.23:1263:646:605:17538:19313:646,605 . . 0/1:-976.932,0,-1170.05:1120:585:529:15396:17875:585,529 . 1/1:-2953.44,-306.589,0:1251:41:1205:35093:828:41,1205 . . . 1/1:-2945.43,-314.712,0:1259:39:1215:35120:740:39,1215 0/1:-938.425,0,-1096.3:1046:544:494:14538:16718:544,494 . . . 0/1:-975.585,0,-1237.58:1158:613:540:15474:18630:613,540 . . . . chr3 38651442 . G A 4819.07 . AB=0.425799;ABP=44.9029;AC=1;AF=0.5;AN=2;AO=373;CIGAR=1X;DP=876;DPB=876;DPRA=0;EPP=3.29556;EPPR=13.3126;GTI=0;LEN=1;MEANALT=3;MQM=30.9517;MQMR=31.4619;NS=1;NUMALT=1;ODDS=1109.63;PAIRED=0.924933;PAIREDR=0.939462;PAO=0;PQA=0;PQR=0;PRO=0;QA=10243;QR=13004;RO=446;RPL=268;RPP=157.686;RPPR=150.417;RPR=105;RUN=1;SAF=105;SAP=157.686;SAR=268;SF=0;SRF=136;SRP=150.417;SRR=310;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon7:c.C717T:p.I239I,SCN5A:NM_001099404:exon7:c.C717T:p.I239I,SCN5A:NM_001099405:exon7:c.C717T:p.I239I,SCN5A:NM_001160160:exon7:c.C717T:p.I239I,SCN5A:NM_001160161:exon7:c.C717T:p.I239I,SCN5A:NM_198056:exon7:c.C717T:p.I239I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0047;esp6500siv2_ea=0.0067;esp6500siv2_all=0.0047;esp6500siv2_ea=0.0067;1000g2015aug_all=0.00139776;avsnp147=rs41285129;Kaviar_AF=0.0039715;Kaviar_AC=614;Kaviar_AN=154602;ExAC_ALL=0.0039;ExAC_AFR=0.0009;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0118;ExAC_NFE=0.0053;ExAC_OTH=0.0056;ExAC_SAS=0;CLNALLELEID=57479;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8489;dpsi_zscore=-1.850;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0111;gnomAD_exome_NFE=0.0054;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0042;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0106;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-522.968,0,-725.982:876:446:373:10243:13004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38655196 . C T 7114.88 . AB=0.467169;ABP=11.7079;AC=1;AF=0.5;AN=2;AO=434;CIGAR=1X;DP=929;DPB=929;DPRA=0;EPP=8.79422;EPPR=8.80562;GTI=0;LEN=1;MEANALT=3;MQM=36.523;MQMR=35.976;NS=1;NUMALT=1;ODDS=1638.26;PAIRED=0.940092;PAIREDR=0.947712;PAO=0;PQA=0;PQR=0;PRO=0;QA=12515;QR=13928;RO=459;RPL=95;RPP=300.892;RPPR=134.95;RPR=339;RUN=1;SAF=249;SAP=23.5042;SAR=185;SF=0;SRF=262;SRP=22.9983;SRR=197;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0612;dpsi_zscore=0.347;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-753.61,0,-831.777:929:459:434:12515:13928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38655272 . C T 12488.40 . AB=0.491132;ABP=4.01161;AC=2;AF=0.5;AN=4;AO=720;CIGAR=1X;DP=3036;DPB=1466;DPRA=0;EPP=19.5256;EPPR=9.2831;GTI=0;LEN=1;MEANALT=3;MQM=37.0722;MQMR=36.3723;NS=1;NUMALT=1;ODDS=2888.16;PAIRED=0.95;PAIREDR=0.9301;PAO=0;PQA=0;PQR=0;PRO=0;QA=21035;QR=20843;RO=701;RPL=346;RPP=5.37479;RPPR=16.9158;RPR=374;RUN=1;SAF=319;SAP=23.2894;SAR=401;SF=0;SRF=323;SRP=12.3808;SRR=378;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon6:c.G665A:p.R222Q,SCN5A:NM_198056:exon6:c.G665A:p.R222Q;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs45546039;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=48043;CLNDN=Primary_dilated_cardiomyopathy|Congenital_long_QT_syndrome|Brugada_syndrome|Dilated_cardiomyopathy_1E|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832680,OMIM:601154|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.915;MutationAssessor_pred=H;FATHMM_score=-5.12;FATHMM_pred=D;PROVEAN_score=-3.9;PROVEAN_pred=D;VEST3_score=0.972;CADD_raw=2.608;CADD_phred=20.2;DANN_score=1.000;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=1.043;MetaSVM_pred=D;MetaLR_score=0.980;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.3;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=17.040;GDI_full_10282015=.;dpsi_max_tissue=-3.7084;dpsi_zscore=-2.294;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM087605#"Cardiomyopathy_dilated";gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-1304.48,0,-1265.56:1466:701:720:21035:20843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1222.39,0,-1498.27:1570:809:719:20603:23815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38671944 . G A 6614.87 . AB=0.411866;ABP=81.4764;AC=1;AF=0.5;AN=2;AO=479;CIGAR=1X;DP=1163;DPB=1163;DPRA=0;EPP=7.36684;EPPR=6.26751;GTI=0;LEN=1;MEANALT=3;MQM=34.3048;MQMR=35.485;NS=1;NUMALT=1;ODDS=1523.13;PAIRED=0.893528;PAIREDR=0.903333;PAO=0;PQA=0;PQR=0;PRO=0;QA=12744;QR=18327;RO=600;RPL=327;RPP=141.844;RPPR=214.96;RPR=152;RUN=1;SAF=188;SAP=51.1046;SAR=291;SF=0;SRF=266;SRP=19.7451;SRR=334;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0602;esp6500siv2_ea=0.0175;esp6500siv2_all=0.0602;esp6500siv2_ea=0.0175;1000g2015aug_all=0.0644968;avsnp147=rs7627488;Kaviar_AF=0.0311833;Kaviar_AC=4821;Kaviar_AN=154602;ExAC_ALL=0.0336;ExAC_AFR=0.1783;ExAC_AMR=0.0133;ExAC_EAS=0.0006;ExAC_FIN=0.0239;ExAC_NFE=0.0184;ExAC_OTH=0.0235;ExAC_SAS=0.0449;CLNALLELEID=489880;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8126;dpsi_zscore=1.906;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS994154#"Brugada_syndrome";gnomAD_exome_ALL=0.0300;gnomAD_exome_AFR=0.1781;gnomAD_exome_AMR=0.0135;gnomAD_exome_ASJ=0.0130;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0207;gnomAD_exome_NFE=0.0185;gnomAD_exome_OTH=0.0263;gnomAD_exome_SAS=0.0454;gnomAD_genome_ALL=0.0615;gnomAD_genome_AFR=0.1725;gnomAD_genome_AMR=0.0144;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0218;gnomAD_genome_NFE=0.0191;gnomAD_genome_OTH=0.0234;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/1:-691.818,0,-1132.75:1163:600:479:12744:18327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38674698 . C T 2314.89 . AB=0.484419;ABP=3.75463;AC=1;AF=0.5;AN=2;AO=171;CIGAR=1X;DP=353;DPB=353;DPRA=0;EPP=12.2676;EPPR=3.65516;GTI=0;LEN=1;MEANALT=3;MQM=33.4327;MQMR=36.1091;NS=1;NUMALT=1;ODDS=533.023;PAIRED=0.935673;PAIREDR=0.963636;PAO=0;PQA=0;PQR=0;PRO=0;QA=4411;QR=4757;RO=165;RPL=63;RPP=28.7251;RPPR=3.33931;RPR=108;RUN=1;SAF=93;SAP=5.8675;SAR=78;SF=0;SRF=86;SRP=3.65516;SRR=79;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.G101A:p.R34H,SCN5A:NM_001099404:exon2:c.G101A:p.R34H,SCN5A:NM_001099405:exon2:c.G101A:p.R34H,SCN5A:NM_001160160:exon2:c.G101A:p.R34H,SCN5A:NM_001160161:exon2:c.G101A:p.R34H,SCN5A:NM_198056:exon2:c.G101A:p.R34H;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199473046;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.519e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=78523;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=0.074;SIFT_pred=T;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.482;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.654;MutationTaster_pred=D;MutationAssessor_score=1.705;MutationAssessor_pred=L;FATHMM_score=-1.62;FATHMM_pred=D;PROVEAN_score=-2.16;PROVEAN_pred=N;VEST3_score=0.583;CADD_raw=5.028;CADD_phred=25.2;DANN_score=0.997;fathmm-MKL_coding_score=0.511;fathmm-MKL_coding_pred=D;MetaSVM_score=0.063;MetaSVM_pred=D;MetaLR_score=0.448;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=3.67;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.881;phastCons7way_vertebrate=0.629;phastCons20way_mammalian=0.410;SiPhy_29way_logOdds=8.990;GDI_full_10282015=.;dpsi_max_tissue=-0.1040;dpsi_zscore=-0.461;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1617950#"Congenital_complete_heart_block";gnomAD_exome_ALL=4.476e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.753e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-242.314,0,-285.589:353:165:171:4411:4757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38674699 . G A 4456.88 . AB=0.420732;ABP=29.8624;AC=3;AF=0.5;AN=6;AO=207;CIGAR=1X;DP=2163;DPB=492;DPRA=0;EPP=3.10471;EPPR=5.41473;GTI=0;LEN=1;MEANALT=3;MQM=30.8986;MQMR=32.3831;NS=1;NUMALT=1;ODDS=572.481;PAIRED=0.917874;PAIREDR=0.931034;PAO=0;PQA=0;PQR=0;PRO=0;QA=5391;QR=7493;RO=261;RPL=79;RPP=28.1973;RPPR=28.1777;RPR=128;RUN=1;SAF=104;SAP=3.02079;SAR=103;SF=0,1;SRF=141;SRP=6.67934;SRR=120;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.C100T:p.R34C,SCN5A:NM_001099404:exon2:c.C100T:p.R34C,SCN5A:NM_001099405:exon2:c.C100T:p.R34C,SCN5A:NM_001160160:exon2:c.C100T:p.R34C,SCN5A:NM_001160161:exon2:c.C100T:p.R34C,SCN5A:NM_198056:exon2:c.C100T:p.R34C;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0296;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0296;esp6500siv2_ea=0.0013;1000g2015aug_all=0.0371406;avsnp147=rs6791924;Kaviar_AF=0.0092948;Kaviar_AC=1437;Kaviar_AN=154602;ExAC_ALL=0.0095;ExAC_AFR=0.0997;ExAC_AMR=0.0066;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0012;ExAC_OTH=0.0091;ExAC_SAS=0.0003;CLNALLELEID=57443;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.685;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.605;MutationAssessor_pred=M;FATHMM_score=-1.66;FATHMM_pred=D;PROVEAN_score=-3.7;PROVEAN_pred=D;VEST3_score=0.596;CADD_raw=5.725;CADD_phred=26.9;DANN_score=0.998;fathmm-MKL_coding_score=0.824;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.654;MetaSVM_pred=T;MetaLR_score=0.048;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.55;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.985;phastCons7way_vertebrate=0.815;phastCons20way_mammalian=0.575;SiPhy_29way_logOdds=10.612;GDI_full_10282015=.;dpsi_max_tissue=0.1206;dpsi_zscore=0.543;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM148752#"Focal_epilepsy";gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.1009;gnomAD_exome_AMR=0.0071;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0075;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0290;gnomAD_genome_AFR=0.0986;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-259.722,0,-426.726:492:261:207:5391:7493 . . . . . . . . . . . 0/1:-505.089,0,-667.675:762:375:362:9625:11524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-827.413,0,-921.984:909:455:437:12935:13963:455,437 chr3 38674712 . T C 11662.00 . AB=0;ABP=0;AC=177;AF=1;AN=216;AO=541;CIGAR=1X;DP=74103;DPB=555;DPRA=0;EPP=3.20698;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=32.1257;MQMR=33;NS=1;NUMALT=1;ODDS=723.798;PAIRED=0.896488;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=15323;QR=96;RO=4;RPL=217;RPP=48.9644;RPPR=11.6962;RPR=324;RUN=1;SAF=279;SAP=4.17029;SAR=262;SF=0,1;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.A87G:p.A29A,SCN5A:NM_001099404:exon2:c.A87G:p.A29A,SCN5A:NM_001099405:exon2:c.A87G:p.A29A,SCN5A:NM_001160160:exon2:c.A87G:p.A29A,SCN5A:NM_001160161:exon2:c.A87G:p.A29A,SCN5A:NM_198056:exon2:c.A87G:p.A29A;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.8360;esp6500siv2_ea=0.8072;esp6500siv2_all=0.8360;esp6500siv2_ea=0.8072;1000g2015aug_all=0.781749;avsnp147=rs6599230;Kaviar_AF=0.763852;Kaviar_AC=118093;Kaviar_AN=154602;ExAC_ALL=0.7737;ExAC_AFR=0.8941;ExAC_AMR=0.7194;ExAC_EAS=0.6902;ExAC_FIN=0.6934;ExAC_NFE=0.7906;ExAC_OTH=0.7517;ExAC_SAS=0.7485;CLNALLELEID=57481;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1612;dpsi_zscore=0.642;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7655;gnomAD_exome_AFR=0.8977;gnomAD_exome_AMR=0.7155;gnomAD_exome_ASJ=0.7483;gnomAD_exome_EAS=0.6899;gnomAD_exome_FIN=0.6952;gnomAD_exome_NFE=0.7949;gnomAD_exome_OTH=0.7468;gnomAD_exome_SAS=0.7495;gnomAD_genome_ALL=0.7947;gnomAD_genome_AFR=0.8943;gnomAD_genome_AMR=0.7255;gnomAD_genome_ASJ=0.7417;gnomAD_genome_EAS=0.7012;gnomAD_genome_FIN=0.6997;gnomAD_genome_NFE=0.7774;gnomAD_genome_OTH=0.7398;Whole_Blood=Whole_Blood::0.178862::-0.446413;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1157.96,-156.131,0:555:4:541:15323:96 0/1:-637.217,0,-765.994:863:429:406:11588:13228 0/1:-432.402,0,-595.736:624:336:272:7937:10076 0/1:-320.787,0,-328.341:378:177:193:5621:5462 0/1:-542.721,0,-521.03:640:297:327:9602:9014 1/1:-1614.61,-208.309,0:756:6:733:20899:172 1/1:-1213.2,-166.432,0:565:1:554:15983:14 1/1:-1646.21,-207.049,0:743:6:723:21443:164 0/1:-428.93,0,-569.697:599:310:276:8095:9558 1/1:-1716.47,-210.487,0:769:8:748:21976:214 1/1:-1204.09,-161.412,0:570:2:554:16089:68 1/1:-1454.12,-191.116,0:656:1:641:18923:36 1/1:-1321.22,-168.388,0:586:2:574:16717:68 0/1:-455.119,0,-500.518:600:305:285:8230:9097 0/1:-364.757,0,-429.368:474:239:229:6629:7270 . 1/1:-1123.94,-155.132,0:536:2:521:14782:50 1/1:-3052.44,-396.497,0:1417:9:1377:39456:247 0/1:-527.816,0,-556.238:634:308:318:9354:9334 0/1:-423.22,0,-501.867:543:277:256:7521:8675 1/1:-922.149,-127.81,0:445:3:437:12020:64 1/1:-1604.14,-214.935,0:725:0:714:20410:0 1/1:-951.727,-128.342,0:478:6:454:12919:168 1/1:-1904.7,-249.041,0:883:6:868:24763:159 1/1:-1601.85,-206.349,0:730:4:716:20795:118 1/1:-1133.77,-151.832,0:533:3:521:14944:108 0/1:-570.511,0,-701.744:759:380:360:10285:11975 0/1:-447.097,0,-625.573:651:339:292:8232:10163 1/1:-1031.59,-129.034,0:522:12:496:14075:332 0/1:-392.08,0,-567.121:579:306:259:7255:9352 1/1:-1383.38,-178.723,0:639:5:622:17923:114 1/1:-1977.67,-258.568,0:906:5:887:25703:135 1/1:-1529.3,-203.561,0:721:7:698:20082:147 1/1:-1434.64,-192.172,0:663:3:645:18197:55 0/1:-547.215,0,-626.74:674:351:313:9466:10807 1/1:-1546.21,-208.544,0:709:2:694:20054:54 0/1:-617.372,0,-747.922:811:408:380:11126:12631 1/1:-1512.58,-197.631,0:692:3:673:19699:86 1/1:-1297.28,-176.93,0:623:3:613:17339:108 1/1:-928.891,-125.473,0:429:1:420:12019:14 1/1:-1722.49,-224.007,0:803:5:782:22698:158 1/1:-1228.41,-167.293,0:582:3:570:16224:73 1/1:-1423.64,-183.874,0:630:1:614:17978:14 . 1/1:-1970.96,-261.149,0:916:4:887:25517:91 0/1:-510.513,0,-639.574:680:347:321:9214:10802 1/1:-1448.96,-196.702,0:682:2:669:19235:59 1/1:-906.364,-120.677,0:412:1:402:11683:14 . 0/1:-652.735,0,-896.072:914:487:412:12217:14786 1/1:-1795.78,-231.232,0:786:2:771:22549:28 0/1:-447.597,0,-532.065:613:313:287:8410:9409 1/1:-1902.9,-231.245,0:858:13:832:24885:345 0/1:-798.813,0,-697.906:876:399:467:13073:12240 1/1:-1046.65,-143.038,0:498:3:488:13995:86 0/1:-498.547,0,-393.352:549:240:291:8506:7383 1/1:-1477.82,-195.561,0:699:5:684:19540:154 1/1:-804.991,-112.284,0:381:0:373:10815:0 1/1:-1032.56,-131.873,0:473:4:459:13243:118 . 0/1:-324.801,0,-379.842:454:228:213:6184:6868 0/1:-616.188,0,-748.482:827:417:389:11157:12754 1/1:-1213.44,-153.9,0:543:4:534:15631:91 1/1:-964.23,-133.564,0:466:2:453:12584:50 0/1:-710.514,0,-752.06:893:432:443:12659:13108 0/1:-543.604,0,-647.235:711:352:341:9839:10737 1/1:-861.793,-123.913,0:439:3:428:11828:86 1/1:-1303.05,-150.595,0:592:11:573:17096:326 1/1:-1068.99,-142.071,0:495:3:484:14023:86 0/1:-449.328,0,-604.998:635:331:286:8386:10172 1/1:-1338.83,-170.122,0:622:7:608:17912:200 1/1:-1868.74,-245.828,0:873:7:853:24531:204 1/1:-1711.31,-219.343,0:782:5:759:21861:127 0/1:-208.802,0,-343.221:424:223:183:4765:6663 1/1:-1223.71,-161.797,0:566:4:554:16125:69 0/1:-642.554,0,-787.025:862:431:404:11665:13319 1/1:-1531.13,-188.291,0:709:8:686:19782:235 1/1:-1646.88,-219.282,0:772:6:752:21745:155 0/1:-307.303,0,-503.168:478:261:203:5712:8092 0/1:-265.793,0,-373.924:385:200:180:5308:6295 1/1:-1438.86,-188.252,0:690:5:663:19260:145 0/1:-696.949,0,-625.553:810:367:429:12101:11469 0/1:-661.889,0,-759.352:861:426:410:11717:12920 . 1/1:-1099.55,-154.852,0:537:2:527:14653:50 . 1/1:-1076.06,-140.013,0:492:3:483:13847:82 0/1:-472.378,0,-581.701:659:335:311:8620:10186 1/1:-926.795,-121.604,0:415:1:410:11598:32 1/1:-1457.32,-185.949,0:686:9:664:19172:232 0/1:-790.142,0,-1073.54:1065:563:487:14165:17445 1/1:-1219.34,-156.755,0:562:4:550:15819:114 1/1:-1692.56,-215.346,0:774:6:754:21910:160 1/1:-1375.81,-183.46,0:638:2:622:17875:50 1/1:-1528.19,-199.502,0:712:4:692:20496:113 . 1/1:-2176.12,-244.521,0:832:2:825:25320:50:2,825 1/1:-2092.59,-213.752,0:819:11:801:24676:348:11,801 0/1:-923.198,0,-1209.79:1015:539:467:14206:17455:539,467 0/1:-406.218,0,-474.348:444:228:210:6237:7155:228,210 0/1:-731.13,0,-844.572:766:390:369:11072:12502:390,369 1/1:-2393.01,-256.338,0:955:11:929:28193:313:11,929 1/1:-1983.6,-209.392,0:769:9:751:23151:231:9,751 1/1:-2339.33,-260.694,0:916:5:902:27586:143:5,902 0/1:-673.552,0,-768.248:690:347:336:10245:11291:347,336 1/1:-2151.25,-232.482,0:821:5:808:25115:172:5,808 1/1:-2432.99,-262.157,0:945:7:930:28406:226:7,930 . 1/1:-1953.85,-215.44,0:755:6:745:22971:172:6,745 0/1:-669.698,0,-736.559:680:343:328:10196:10858:343,328 0/1:-1165.14,0,-1171.66:1128:556:565:17369:17656:556,565 1/1:-2069.12,-215.713,0:798:8:782:24260:258:8,782 1/1:-2490.73,-274.812,0:967:5:956:29131:163:5,956 0/1:-678.525,0,-835.328:731:385:342:10429:12338:385,342 1/1:-1643.8,-186.338,0:626:0:619:19094:0:0,619 1/1:-2532.89,-287.488,0:985:5:974:29826:141:5,974 chr3 38674747 . G A 4881.87 . AB=0.479592;ABP=5.49198;AC=1;AF=0.5;AN=2;AO=329;CIGAR=1X;DP=686;DPB=686;DPRA=0;EPP=18.8574;EPPR=3.32417;GTI=0;LEN=1;MEANALT=3;MQM=34.6809;MQMR=33.6165;NS=1;NUMALT=1;ODDS=1124.09;PAIRED=0.975684;PAIREDR=0.929204;PAO=0;PQA=0;PQR=0;PRO=0;QA=8685;QR=10277;RO=339;RPL=149;RPP=9.35311;RPPR=51.4937;RPR=180;RUN=1;SAF=153;SAP=6.50182;SAR=176;SF=0;SRF=154;SRP=9.16601;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.C52T:p.R18W,SCN5A:NM_001099404:exon2:c.C52T:p.R18W,SCN5A:NM_001099405:exon2:c.C52T:p.R18W,SCN5A:NM_001160160:exon2:c.C52T:p.R18W,SCN5A:NM_001160161:exon2:c.C52T:p.R18W,SCN5A:NM_198056:exon2:c.C52T:p.R18W;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs199473044;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.096e-05;ExAC_OTH=0.0011;ExAC_SAS=0.0019;CLNALLELEID=78870;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Brugada_syndrome|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.967;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.48;MutationAssessor_pred=M;FATHMM_score=-1.63;FATHMM_pred=D;PROVEAN_score=-4.64;PROVEAN_pred=D;VEST3_score=0.821;CADD_raw=7.377;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=0.610;MetaSVM_pred=D;MetaLR_score=0.717;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.37;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.591;SiPhy_29way_logOdds=17.097;GDI_full_10282015=.;dpsi_max_tissue=-0.2025;dpsi_zscore=-0.692;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM055520#"Long_QT_syndrome";gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.862e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-498.369,0,-584.145:686:339:329:8685:10277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38738936 . A C 8105.78 . AB=0.482966;ABP=5.52555;AC=1;AF=0.5;AN=2;AO=482;CIGAR=1X;DP=998;DPB=998;DPRA=0;EPP=16.1473;EPPR=35.8164;GTI=0;LEN=1;MEANALT=3;MQM=37.9876;MQMR=38.9102;NS=1;NUMALT=1;ODDS=1866.43;PAIRED=0.96888;PAIREDR=0.946108;PAO=0;PQA=0;PQR=0;PRO=0;QA=13311;QR=15343;RO=501;RPL=271;RPP=19.2288;RPPR=20.213;RPR=211;RUN=1;SAF=289;SAP=44.5296;SAR=193;SF=0;SRF=303;SRP=50.7957;SRR=198;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.T5481G:p.T1827T,SCN10A:NM_001293306:exon27:c.T5772G:p.T1924T,SCN10A:NM_006514:exon27:c.T5775G:p.T1925T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-825.378,0,-992.305:998:501:482:13311:15343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739455 . G A 7430.58 . AB=0.448743;ABP=26.6067;AC=1;AF=0.5;AN=2;AO=464;CIGAR=1X;DP=1034;DPB=1034;DPRA=0;EPP=3.08518;EPPR=16.2918;GTI=0;LEN=1;MEANALT=3;MQM=35.5776;MQMR=36.6218;NS=1;NUMALT=1;ODDS=1710.95;PAIRED=0.961207;PAIREDR=0.96;PAO=0;PQA=0;PQR=0;PRO=0;QA=13281;QR=17014;RO=550;RPL=185;RPP=44.3619;RPPR=17.2236;RPR=279;RUN=1;SAF=243;SAP=5.27537;SAR=221;SF=0;SRF=281;SRP=3.57883;SRR=269;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C4962T:p.D1654D,SCN10A:NM_001293306:exon27:c.C5253T:p.D1751D,SCN10A:NM_006514:exon27:c.C5256T:p.D1752D;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs138532656;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=4.943e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.994e-05;ExAC_OTH=0.0011;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.473e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.935e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.285e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-756.927,0,-1056.7:1034:550:464:13281:17014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739494 . G A 7340.28 . AB=0.460948;ABP=22.0054;AC=2;AF=0.5;AN=4;AO=661;CIGAR=1X;DP=2249;DPB=1434;DPRA=0;EPP=4.45904;EPPR=6.33623;GTI=0;LEN=1;MEANALT=3;MQM=31.0469;MQMR=33.2166;NS=1;NUMALT=1;ODDS=2176.25;PAIRED=0.962179;PAIREDR=0.931083;PAO=0;PQA=0;PQR=0;PRO=0;QA=18908;QR=21349;RO=711;RPL=358;RPP=12.9478;RPPR=49.2159;RPR=303;RUN=1;SAF=333;SAP=3.09243;SAR=328;SF=0;SRF=346;SRP=4.11283;SRR=365;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C4923T:p.D1641D,SCN10A:NM_001293306:exon27:c.C5214T:p.D1738D,SCN10A:NM_006514:exon27:c.C5217T:p.D1739D;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0231;esp6500siv2_ea=0.0308;esp6500siv2_all=0.0231;esp6500siv2_ea=0.0308;1000g2015aug_all=0.014377;avsnp147=rs116353929;Kaviar_AF=0.0256077;Kaviar_AC=3959;Kaviar_AN=154602;ExAC_ALL=0.0257;ExAC_AFR=0.0049;ExAC_AMR=0.0349;ExAC_EAS=0.0002;ExAC_FIN=0.0239;ExAC_NFE=0.0303;ExAC_OTH=0.0187;ExAC_SAS=0.0286;CLNALLELEID=239216;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0264;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0336;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0248;gnomAD_exome_NFE=0.0317;gnomAD_exome_OTH=0.0243;gnomAD_exome_SAS=0.0288;gnomAD_genome_ALL=0.0225;gnomAD_genome_AFR=0.0069;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0223;gnomAD_genome_NFE=0.0334;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 0/1:-954.868,0,-1188.56:1434:711:661:18908:21349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-531.712,0,-601.125:815:399:389:10642:12018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739574 . T C 28634.42 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=1329;CIGAR=1X;DP=196058;DPB=1366;DPRA=0;EPP=4.78963;EPPR=18.2106;GTI=0;LEN=1;MEANALT=3;MQM=22.6479;MQMR=31.1429;NS=1;NUMALT=1;ODDS=1795.42;PAIRED=0.962378;PAIREDR=0.571429;PAO=0;PQA=0;PQR=0;PRO=0;QA=37416;QR=124;RO=7;RPL=560;RPP=74.3813;RPPR=3.32051;RPR=769;RUN=1;SAF=631;SAP=10.3449;SAR=698;SF=0,1;SRF=3;SRP=3.32051;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.A4843G:p.M1615V,SCN10A:NM_001293306:exon27:c.A5134G:p.M1712V,SCN10A:NM_006514:exon27:c.A5137G:p.M1713V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs6599241;Kaviar_AF=0.938267;Kaviar_AC=145058;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=251110;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_pred=P;MutationAssessor_score=-2.045;MutationAssessor_pred=N;FATHMM_score=-4.81;FATHMM_pred=D;PROVEAN_score=2.78;PROVEAN_pred=N;VEST3_score=0.309;CADD_raw=0.227;CADD_phred=4.957;DANN_score=0.457;fathmm-MKL_coding_score=0.235;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.898;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=14.472;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.0000;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2232.05,-391.2,0:1366:7:1329:37416:124 1/1:-3372.65,-599.65,0:2051:3:1999:56260:49 1/1:-2710.99,-462.731,0:1605:5:1553:44011:103 1/1:-1703.35,-305.044,0:1035:2:1013:28220:28 1/1:-3022.84,-531.719,0:1841:8:1789:49601:150 1/1:-3762.76,-664.084,0:2301:11:2230:61733:167 1/1:-2585.81,-449.395,0:1573:9:1520:42630:133 1/1:-3142.92,-542.944,0:1882:8:1822:51259:119 1/1:-2514.39,-443.839,0:1524:5:1484:41465:70 1/1:-2690.04,-483.098,0:1673:4:1619:45290:91 1/1:-2507.38,-454.821,0:1552:3:1517:41905:42 1/1:-2810.93,-488.808,0:1693:5:1636:46297:70 1/1:-2488.75,-434.014,0:1515:9:1462:40888:151 1/1:-2159.37,-408.716,0:1419:8:1363:37778:130 1/1:-2357.25,-420.98,0:1446:2:1411:39595:50 1/1:-4181.57,-730.6,0:2499:7:2447:68150:129 1/1:-1887.38,-354.916,0:1237:6:1201:32704:137 1/1:-5709.72,-1008.31,0:3503:13:3379:94645:226 1/1:-2715.49,-475.43,0:1642:7:1600:45406:120 1/1:-1869.03,-347.338,0:1186:2:1159:32105:57 1/1:-2021.13,-351.54,0:1232:5:1185:32993:77 1/1:-3229.76,-552.259,0:1901:8:1847:53054:119 1/1:-1375.51,-255.633,0:890:4:866:23411:76 1/1:-3559.3,-617.584,0:2173:16:2096:58860:286 1/1:-3174.22,-556.746,0:1904:4:1858:52144:56 1/1:-1769.31,-338.415,0:1195:9:1151:31114:151 1/1:-3124.67,-534.667,0:1844:8:1793:50298:147 1/1:-3051.17,-518.161,0:1793:10:1742:49113:153 1/1:-1990.17,-376.115,0:1309:6:1263:34970:97 1/1:-2195.96,-366.986,0:1264:5:1238:35224:88 1/1:-2467.29,-429.634,0:1495:5:1443:40641:110 1/1:-3298.24,-558.634,0:1929:8:1883:53573:150 1/1:-3152.82,-552.751,0:1900:4:1851:51696:76 1/1:-1885.49,-331.735,0:1134:0:1102:30460:0 1/1:-2872.31,-475.613,0:1649:9:1612:45971:184 1/1:-3190.78,-558.602,0:1948:11:1892:52834:190 1/1:-2206.5,-386.632,0:1327:4:1301:36274:78 1/1:-2599.81,-450.477,0:1559:7:1517:43271:116 1/1:-2877.65,-506.073,0:1764:9:1712:47515:151 1/1:-1903.35,-327.649,0:1139:9:1108:31303:182 1/1:-3558.06,-616.646,0:2121:11:2068:59289:180 1/1:-2675.73,-478.087,0:1670:7:1621:44700:146 1/1:-2983.97,-524.228,0:1800:8:1748:48908:152 1/1:-2965.07,-516.895,0:1801:9:1741:48592:164 1/1:-3428.55,-592.457,0:2069:8:1998:56238:181 1/1:-2986.33,-524.595,0:1836:9:1772:48826:214 1/1:-2898.96,-498.277,0:1726:7:1668:47918:98 1/1:-1817.52,-317.265,0:1082:1:1057:29662:14 1/1:-2326.4,-405.436,0:1390:5:1356:38048:83 1/1:-3533.37,-615.96,0:2111:6:2065:58051:106 1/1:-3027.44,-540.569,0:1888:8:1816:50960:165 1/1:-2366.15,-451.523,0:1562:3:1510:41220:68 1/1:-3390.04,-586.89,0:2022:8:1967:56312:160 1/1:-3224.54,-563.493,0:1950:13:1888:52779:204 1/1:-1784.62,-335.511,0:1161:4:1127:30715:56 1/1:-2301.05,-407.417,0:1396:3:1365:38255:67 1/1:-3093.4,-549.151,0:1899:6:1847:51040:134 1/1:-1590.19,-310.636,0:1083:5:1039:28475:77 1/1:-2187.94,-368.5,0:1273:5:1239:35037:70 1/1:-3106.5,-558.961,0:1933:4:1864:51718:56 1/1:-1543.75,-288.423,0:996:2:961:26460:28 1/1:-3548.16,-628.049,0:2199:13:2131:58829:262 1/1:-2850.5,-491.041,0:1681:2:1638:46177:41 1/1:-1720.95,-322.707,0:1132:6:1093:29837:105 1/1:-3426.62,-601.299,0:2088:6:2012:56986:109 1/1:-3108.36,-540.004,0:1869:7:1804:50869:111 1/1:-1466.73,-276.753,0:959:4:928:26001:69 1/1:-2725.01,-471.651,0:1627:2:1571:44496:28 1/1:-2574.5,-440.5,0:1523:5:1480:41653:92 1/1:-2893.14,-508.163,0:1758:7:1707:47201:129 1/1:-2828.78,-506.421,0:1759:5:1703:47301:99 1/1:-3796.87,-661.812,0:2277:6:2216:62809:91 1/1:-3058.6,-542.631,0:1872:9:1818:50443:158 1/1:-1412.02,-277.02,0:1021:12:962:25144:219 1/1:-2458.05,-437.284,0:1501:2:1457:40603:35 1/1:-3481.06,-617,0:2131:8:2071:57419:156 1/1:-3281.93,-565.675,0:1970:10:1919:53223:242 1/1:-3376.49,-603.386,0:2074:3:2008:55975:49 1/1:-1998.26,-343.533,0:1193:6:1153:32401:84 1/1:-1605.54,-276.096,0:958:4:935:26301:85 1/1:-2978.6,-530.011,0:1844:6:1785:50118:146 1/1:-3391.35,-609.257,0:2116:12:2052:56194:226 1/1:-3335.6,-572.62,0:1997:9:1931:54035:174 1/1:-2631.29,-460.919,0:1601:6:1554:43840:137 1/1:-2490.26,-443.331,0:1537:6:1488:41398:84 1/1:-2816.81,-494.075,0:1715:6:1672:46410:133 1/1:-1893.4,-328.364,0:1130:4:1107:31539:96 1/1:-3037.34,-529.523,0:1835:4:1774:50056:78 1/1:-1765.15,-306.995,0:1054:1:1023:28977:14 1/1:-2341.95,-420.843,0:1445:3:1413:39643:64 1/1:-3756.19,-655.97,0:2265:9:2212:62121:201 1/1:-2378.11,-421.332,0:1494:9:1439:40034:201 1/1:-3563.54,-615.125,0:2133:7:2067:59026:138 1/1:-3029.45,-523.159,0:1820:6:1767:49363:137 1/1:-3079.45,-545.116,0:1890:6:1824:51040:84 . 1/1:-4220.24,-656.204,0:2220:1:2181:66000:14:1,2181 1/1:-3912.1,-597.913,0:2056:8:2015:61577:225:8,2015 1/1:-3939,-601.004,0:2063:6:2023:61450:150:6,2023 1/1:-2345.95,-361.345,0:1239:2:1215:36306:57:2,1215 1/1:-3434.12,-533.329,0:1801:2:1776:53809:28:2,1776 1/1:-4194.27,-652.1,0:2214:4:2179:66032:63:4,2179 1/1:-3466.35,-535.8,0:1824:2:1786:54190:28:2,1786 1/1:-3831.03,-594.241,0:2013:2:1975:59637:28:2,1975 1/1:-3570.93,-547.272,0:1870:5:1838:55823:99:5,1838 1/1:-3553.39,-569.192,0:1929:1:1894:57602:14:1,1894 1/1:-4085.5,-625.311,0:2128:5:2093:63797:150:5,2093 1/1:-3125.43,-483.538,0:1652:5:1621:48898:92:5,1621 1/1:-3440.67,-527.274,0:1792:2:1763:53038:46:2,1763 1/1:-3436.91,-536.298,0:1831:4:1787:53889:69:4,1787 1/1:-3654.99,-562.627,0:1926:5:1880:56814:101:5,1880 1/1:-3358.07,-530.264,0:1800:3:1769:53582:42:3,1769 1/1:-3678.7,-587.599,0:1987:1:1955:58896:14:1,1955 1/1:-3451.86,-539.124,0:1828:2:1794:54443:50:2,1794 1/1:-3367.85,-517.128,0:1753:1:1719:52570:14:1,1719 1/1:-3773.53,-590.255,0:2003:3:1971:60405:73:3,1971 chr3 38739622 . C T 7253.10 . AB=0.513342;ABP=5.44389;AC=2;AF=0.5;AN=4;AO=808;CIGAR=1X;DP=2976;DPB=1574;DPRA=0;EPP=12.0509;EPPR=4.59911;GTI=0;LEN=1;MEANALT=3;MQM=20.578;MQMR=22.2918;NS=1;NUMALT=1;ODDS=1832.59;PAIRED=0.950495;PAIREDR=0.943292;PAO=0;PQA=0;PQR=0;PRO=0;QA=22958;QR=22000;RO=723;RPL=518;RPP=142.716;RPPR=32.4468;RPR=290;RUN=1;SAF=409;SAP=3.27905;SAR=399;SF=0;SRF=346;SRP=5.89659;SRR=377;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4795A:p.V1599I,SCN10A:NM_001293306:exon27:c.G5086A:p.V1696I,SCN10A:NM_006514:exon27:c.G5089A:p.V1697I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0101;esp6500siv2_ea=0.0137;esp6500siv2_all=0.0101;esp6500siv2_ea=0.0137;1000g2015aug_all=0.00638978;avsnp147=rs77804526;Kaviar_AF=0.0119468;Kaviar_AC=1847;Kaviar_AN=154602;ExAC_ALL=0.0123;ExAC_AFR=0.0021;ExAC_AMR=0.0048;ExAC_EAS=0.0001;ExAC_FIN=0.0050;ExAC_NFE=0.0144;ExAC_OTH=0.0231;ExAC_SAS=0.0243;CLNALLELEID=239217;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.245;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=-0.23;MutationAssessor_pred=N;FATHMM_score=-4.9;FATHMM_pred=D;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.037;CADD_raw=0.274;CADD_phred=5.435;DANN_score=0.701;fathmm-MKL_coding_score=0.058;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.027;MetaSVM_pred=T;MetaLR_score=0.627;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=0.236;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.127;phastCons20way_mammalian=0.798;SiPhy_29way_logOdds=3.277;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM147576#"Brugada_syndrome";gnomAD_exome_ALL=0.0117;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0204;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0242;gnomAD_genome_ALL=0.0083;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0133;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-821.738,0,-808.58:1574:723:808:22958:22000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-676.313,0,-792.331:1402:709:659:19115:21895 . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739727 . C T 3247.34 . AB=0.457335;ABP=24.1334;AC=2;AF=0.5;AN=4;AO=611;CIGAR=1X;DP=2235;DPB=1336;DPRA=0;EPP=40.7143;EPPR=9.06619;GTI=0;LEN=1;MEANALT=3;MQM=17.4026;MQMR=19.1704;NS=1;NUMALT=1;ODDS=884.573;PAIRED=0.947627;PAIREDR=0.957768;PAO=0;PQA=0;PQR=0;PRO=0;QA=17194;QR=19992;RO=663;RPL=128;RPP=450.899;RPPR=280.359;RPR=483;RUN=1;SAF=409;SAP=155.294;SAR=202;SF=0;SRF=421;SRP=107.952;SRR=242;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4690A:p.G1564S,SCN10A:NM_001293306:exon27:c.G4981A:p.G1661S,SCN10A:NM_006514:exon27:c.G4984A:p.G1662S;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0019;1000g2015aug_all=0.000998403;avsnp147=rs151090729;Kaviar_AF=0.0013648;Kaviar_AC=211;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=0.0003;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0007;ExAC_OTH=0.0011;ExAC_SAS=0.0076;CLNALLELEID=393998;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.48;MutationAssessor_pred=M;FATHMM_score=-7.52;FATHMM_pred=D;PROVEAN_score=-5.67;PROVEAN_pred=D;VEST3_score=0.919;CADD_raw=6.647;CADD_phred=32;DANN_score=0.999;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=0.938;MetaSVM_pred=D;MetaLR_score=0.995;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.972;SiPhy_29way_logOdds=19.321;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM139002#"Small_fibre_neuropathy";gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0076;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-459.678,0,-651.715:1336:663:611:17194:19992 . . . . . . . . . . . . . . . 0/1:-302.573,0,-369.866:899:444:417:11520:13322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739834 . A G 1201.79 . AB=0.387659;ABP=166.453;AC=2;AF=0.5;AN=4;AO=578;CIGAR=1X;DP=3303;DPB=1491;DPRA=0;EPP=9.0213;EPPR=8.25134;GTI=0;LEN=1;MEANALT=3;MQM=14.7353;MQMR=20.4505;NS=1;NUMALT=1;ODDS=375.899;PAIRED=0.977509;PAIREDR=0.98093;PAO=0;PQA=0;PQR=0;PRO=0;QA=13238;QR=25606;RO=839;RPL=385;RPP=141.504;RPPR=103.454;RPR=193;RUN=1;SAF=220;SAP=74.5562;SAR=358;SF=0;SRF=299;SRP=153.334;SRR=540;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.T4583C:p.M1528T,SCN10A:NM_001293306:exon27:c.T4874C:p.M1625T,SCN10A:NM_006514:exon27:c.T4877C:p.M1626T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.69;MutationAssessor_pred=M;FATHMM_score=-5.07;FATHMM_pred=D;PROVEAN_score=-5.69;PROVEAN_pred=D;VEST3_score=0.855;CADD_raw=4.556;CADD_phred=24.4;DANN_score=0.993;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=1.100;MetaSVM_pred=D;MetaLR_score=0.969;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.42;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.969;SiPhy_29way_logOdds=15.622;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-203.756,0,-938.896:1491:839:578:13238:25606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-138.658,0,-1385.57:1812:1092:622:13687:32938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739837 . C A 386.23 . AB=0.29113;ABP=532.763;AC=2;AF=0.5;AN=4;AO=407;CIGAR=1X;DP=3140;DPB=1398;DPRA=0;EPP=11.979;EPPR=7.88368;GTI=0;LEN=1;MEANALT=3;MQM=14.7346;MQMR=21.0496;NS=1;NUMALT=1;ODDS=128.298;PAIRED=0.982801;PAIREDR=0.978372;PAO=0;PQA=0;PQR=0;PRO=0;QA=10362;QR=23408;RO=786;RPL=248;RPP=45.2713;RPPR=88.5873;RPR=159;RUN=1;SAF=128;SAP=124.661;SAR=279;SF=0;SRF=283;SRP=136.724;SRR=503;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4580T:p.G1527V,SCN10A:NM_001293306:exon27:c.G4871T:p.G1624V,SCN10A:NM_006514:exon27:c.G4874T:p.G1625V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.56;MutationAssessor_pred=H;FATHMM_score=-4.38;FATHMM_pred=D;PROVEAN_score=-8.54;PROVEAN_pred=D;VEST3_score=0.978;CADD_raw=6.226;CADD_phred=28.8;DANN_score=0.998;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=1.056;MetaSVM_pred=D;MetaLR_score=0.976;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.42;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=19.406;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-107.72,0,-958.358:1398:786:407:10362:23408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-99.197,0,-1430.9:1742:1023:457:11476:30635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739838 . C T 1176.45 . AB=0.360515;ABP=239.263;AC=2;AF=0.5;AN=4;AO=504;CIGAR=1X;DP=3118;DPB=1398;DPRA=0;EPP=3.0103;EPPR=5.86105;GTI=0;LEN=1;MEANALT=3;MQM=14.5774;MQMR=21.2154;NS=1;NUMALT=1;ODDS=316.146;PAIRED=0.978175;PAIREDR=0.976923;PAO=0;PQA=0;PQR=0;PRO=0;QA=12280;QR=22845;RO=780;RPL=310;RPP=60.9852;RPPR=105.637;RPR=194;RUN=1;SAF=166;SAP=130.472;SAR=338;SF=0;SRF=286;SRP=123.455;SRR=494;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4579A:p.G1527S,SCN10A:NM_001293306:exon27:c.G4870A:p.G1624S,SCN10A:NM_006514:exon27:c.G4873A:p.G1625S;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs776389291;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.647e-05;ExAC_AFR=9.61e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.81;MutationAssessor_pred=H;FATHMM_score=-4.47;FATHMM_pred=D;PROVEAN_score=-5.69;PROVEAN_pred=D;VEST3_score=0.957;CADD_raw=6.917;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=1.087;MetaSVM_pred=D;MetaLR_score=0.968;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.42;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.406;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-177.092,0,-909.685:1398:780:504:12280:22845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-164.25,0,-1346.18:1720:1007:550:13305:29044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739845 . A G 17496.10 . AB=0;ABP=0;AC=207;AF=1;AN=228;AO=1065;CIGAR=1X;DP=149824;DPB=1116;DPRA=0;EPP=7.51432;EPPR=20.3821;GTI=0;LEN=1;MEANALT=3;MQM=20.5831;MQMR=20.875;NS=1;NUMALT=1;ODDS=1427.06;PAIRED=0.97277;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=29477;QR=173;RO=8;RPL=651;RPP=117.536;RPPR=7.35324;RPR=414;RUN=1;SAF=326;SAP=350.79;SAR=739;SF=0,1;SRF=6;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.T4572C:p.S1524S,SCN10A:NM_001293306:exon27:c.T4863C:p.S1621S,SCN10A:NM_006514:exon27:c.T4866C:p.S1622S;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.9305;esp6500siv2_ea=0.9151;esp6500siv2_all=0.9305;esp6500siv2_ea=0.9151;1000g2015aug_all=0.92472;avsnp147=rs6599242;Kaviar_AF=0.910105;Kaviar_AC=140704;Kaviar_AN=154602;ExAC_ALL=0.9199;ExAC_AFR=0.9606;ExAC_AMR=0.9185;ExAC_EAS=0.9703;ExAC_FIN=0.9342;ExAC_NFE=0.9180;ExAC_OTH=0.9306;ExAC_SAS=0.8703;CLNALLELEID=101303;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9195;gnomAD_exome_AFR=0.9601;gnomAD_exome_AMR=0.9144;gnomAD_exome_ASJ=0.9422;gnomAD_exome_EAS=0.9700;gnomAD_exome_FIN=0.9335;gnomAD_exome_NFE=0.9162;gnomAD_exome_OTH=0.9211;gnomAD_exome_SAS=0.8712;gnomAD_genome_ALL=0.9325;gnomAD_genome_AFR=0.9633;gnomAD_genome_AMR=0.9091;gnomAD_genome_ASJ=0.9267;gnomAD_genome_EAS=0.9685;gnomAD_genome_FIN=0.9356;gnomAD_genome_NFE=0.9122;gnomAD_genome_OTH=0.9196;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1685.81,-310.755,0:1116:8:1065:29477:173 1/1:-2500.86,-458.605,0:1629:9:1555:43083:194 1/1:-2044.97,-370.917,0:1284:4:1241:34567:63 1/1:-1416.01,-254.144,0:885:3:851:23459:42 1/1:-1777.58,-371.854,0:1320:9:1265:35559:205 1/1:-2910.55,-542.455,0:1917:11:1827:51186:263 1/1:-1914.35,-356.331,0:1262:7:1200:33229:173 1/1:-2526.96,-471.234,0:1661:9:1592:43973:155 1/1:-1904.03,-342.256,0:1237:9:1170:32411:192 1/1:-2389.69,-445.033,0:1560:8:1503:41438:196 1/1:-2054.38,-372.372,0:1326:10:1271:35340:264 1/1:-2059.86,-378.87,0:1350:12:1288:35568:278 0/1:-688.072,0,-792.833:1331:628:668:18325:18965 1/1:-1745.97,-325.418,0:1156:7:1102:30676:120 1/1:-1511.64,-271.963,0:991:10:938:25955:224 0/1:-991.745,0,-1431.89:2102:1062:980:27712:32602 1/1:-1472.24,-290.775,0:1015:4:969:26421:63 0/1:-1446.67,0,-1981.02:3029:1502:1430:39854:46039 1/1:-2217.78,-390.126,0:1370:7:1311:37252:160 1/1:-1415.45,-268.552,0:934:1:892:24844:32 1/1:-1606.66,-302.529,0:1055:3:1009:27477:42 1/1:-2346.38,-418.614,0:1495:11:1429:40197:260 1/1:-1363.34,-261.314,0:915:4:871:24534:87 1/1:-2653.21,-483.071,0:1722:12:1644:45483:263 0/1:-778.387,0,-1055.14:1608:787:766:21080:23969 1/1:-1612.31,-316.585,0:1129:5:1064:28950:70 1/1:-2490.94,-439.203,0:1573:15:1506:42215:382 0/1:-652.784,0,-1000.16:1431:734:643:17979:22399 1/1:-1657.94,-309.175,0:1073:5:1034:28934:83 0/1:-578.438,0,-640.713:1070:503:523:14594:15002 1/1:-1795.34,-325.053,0:1150:5:1108:30840:123 1/1:-2610.91,-465.137,0:1617:8:1568:44080:160 1/1:-2502.57,-454.901,0:1614:6:1541:42734:172 0/1:-496.181,0,-538.76:945:430:477:12797:12999 . 1/1:-2425.56,-438.006,0:1556:10:1488:42077:242 1/1:-1531,-284.969,0:983:3:949:26357:55 0/1:-641.838,0,-930.805:1296:646:614:17564:19707 0/1:-648.336,0,-909.386:1414:699:669:18462:21440 1/1:-1385.26,-255.238,0:885:2:851:23318:28 1/1:-2504.33,-429.779,0:1572:16:1508:42609:431 1/1:-2224.98,-409.963,0:1433:7:1381:38164:138 1/1:-2274.67,-407.765,0:1423:8:1361:37971:156 1/1:-2273.77,-398.475,0:1436:12:1369:38357:279 1/1:-2665.62,-476.254,0:1700:9:1622:44973:223 1/1:-1966.78,-367.919,0:1288:6:1237:34106:84 0/1:-738.271,0,-985.133:1564:762:755:20867:23271 1/1:-1333.27,-250.284,0:865:2:840:23020:46 1/1:-1696.4,-293.976,0:1032:4:999:28721:144 1/1:-2570.91,-468.233,0:1634:6:1572:44312:84 1/1:-2564.86,-473.013,0:1649:4:1584:44681:78 1/1:-1984.79,-397.055,0:1396:7:1337:36067:120 1/1:-2552.29,-459.439,0:1623:8:1555:43389:152 0/1:-341.482,0,-1156.76:1606:860:700:19320:26065 1/1:-1453.4,-281.365,0:974:2:939:25545:28 1/1:-1798.17,-318.084,0:1118:4:1075:29967:78 1/1:-2658.38,-481.946,0:1664:4:1605:44669:56 1/1:-1280.65,-245.931,0:860:3:821:22670:60 0/1:-505.927,0,-525.958:936:425:476:13069:12696 1/1:-2527.64,-455.756,0:1631:7:1551:42982:204 1/1:-1360.91,-256.941,0:896:2:856:23989:46 1/1:-2867.47,-531.703,0:1862:7:1784:48444:152 1/1:-2014.58,-368.947,0:1275:4:1228:34274:56 1/1:-1408.24,-282.692,0:977:4:947:26004:74 1/1:-2693.53,-477.091,0:1686:10:1614:45860:205 1/1:-2321.36,-429.984,0:1487:2:1433:39568:28 1/1:-1130.78,-216.351,0:759:3:721:19967:64 1/1:-1971.02,-340.366,0:1234:12:1174:33166:252 1/1:-2072.78,-377.179,0:1325:6:1264:34590:84 1/1:-2317.81,-434.381,0:1523:6:1462:40245:124 0/1:-709.656,0,-924.406:1449:711:701:19310:21479 1/1:-3007.24,-543.741,0:1913:7:1823:51108:147 1/1:-2462.14,-442.162,0:1562:7:1501:41943:182 1/1:-1142.3,-231.856,0:857:9:791:21112:161 1/1:-1851.74,-332.871,0:1170:4:1116:31335:56 1/1:-2793.24,-513.205,0:1829:9:1747:48078:239 0/1:-778.648,0,-1062.42:1603:801:761:21162:24259 1/1:-2367.07,-431.22,0:1511:6:1453:40544:124 0/1:-402.992,0,-690.111:937:509:399:11212:15719 0/1:-417.861,0,-599.191:862:448:398:11487:13663 1/1:-2421.57,-458.714,0:1592:2:1527:42323:28 1/1:-2432.79,-448.927,0:1594:13:1530:42668:279 1/1:-2441.26,-459.641,0:1583:5:1535:42736:92 1/1:-2027.85,-376.632,0:1310:5:1260:34684:119 0/1:-611.379,0,-822.452:1322:652:631:17019:19739 1/1:-1949.02,-347.597,0:1237:6:1180:33034:135 1/1:-1594.38,-294.078,0:1010:1:980:27794:14 1/1:-2438.74,-435.435,0:1541:10:1477:40896:215 1/1:-1347.78,-244.24,0:854:2:817:22718:50 1/1:-1935.94,-356.035,0:1252:6:1201:33205:163 0/1:-878.533,0,-1309.11:1890:967:874:24333:29608 1/1:-1986.98,-366.138,0:1279:4:1233:34568:100 1/1:-2690.28,-467.064,0:1697:14:1608:45683:324 1/1:-2320.6,-420.074,0:1518:10:1437:39725:228 1/1:-2379.92,-442.469,0:1539:3:1474:40751:91 . 0/1:-967.762,0,-1081.41:1484:712:742:22212:22174:712,742 1/1:-1896.58,-302.411,0:1047:3:1019:30628:62:3,1019 1/1:-2153.08,-319.548,0:1173:11:1134:34349:353:11,1134 0/1:-549.109,0,-555.968:814:380:408:12207:11593:380,408 1/1:-1862.25,-293.904,0:1009:2:976:29228:28:2,976 1/1:-2150.64,-337.145,0:1188:4:1149:34083:136:4,1149 1/1:-1962.18,-311.022,0:1073:2:1044:31307:57:2,1044 0/1:-732.514,0,-753.117:1095:523:549:16756:15951:523,549 1/1:-1757.72,-276.83,0:955:1:926:27659:36:1,926 1/1:-2110.36,-333.357,0:1210:9:1159:34184:258:9,1159 1/1:-2044.83,-313.242,0:1102:4:1069:32232:114:4,1069 1/1:-1686.06,-261.886,0:911:2:885:26717:72:2,885 1/1:-1720,-266.719,0:962:7:929:27597:195:7,929 1/1:-1795.36,-288.032,0:980:1:957:28556:27:1,957 1/1:-2207.68,-353.805,0:1250:8:1211:35914:247:8,1211 1/1:-1715.86,-273.033,0:941:1:910:27542:14:1,910 1/1:-2150,-331.059,0:1213:8:1163:35207:279:8,1163 1/1:-1880.51,-300.997,0:1028:1:1000:30002:14:1,1000 1/1:-1720.86,-267.315,0:912:0:888:26661:0:0,888 1/1:-2043.41,-324.614,0:1132:3:1096:32919:82:3,1096 chr3 38739857 . C T 5820.28 . AB=0.461538;ABP=21.2173;AC=1;AF=0.5;AN=2;AO=654;CIGAR=1X;DP=1417;DPB=1417;DPRA=0;EPP=7.8048;EPPR=3.01329;GTI=0;LEN=1;MEANALT=3;MQM=20.2232;MQMR=21.5406;NS=1;NUMALT=1;ODDS=1340.17;PAIRED=0.969419;PAIREDR=0.977992;PAO=0;PQA=0;PQR=0;PRO=0;QA=19307;QR=22876;RO=727;RPL=352;RPP=11.311;RPPR=51.1859;RPR=302;RUN=1;SAF=152;SAP=409.746;SAR=502;SF=0;SRF=192;SRP=354.415;SRR=535;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4560A:p.M1520I,SCN10A:NM_001293306:exon27:c.G4851A:p.M1617I,SCN10A:NM_006514:exon27:c.G4854A:p.M1618I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.027;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.824;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.48;MutationAssessor_pred=L;FATHMM_score=-4.85;FATHMM_pred=D;PROVEAN_score=-3.66;PROVEAN_pred=D;VEST3_score=0.868;CADD_raw=6.248;CADD_phred=28.9;DANN_score=0.998;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_pred=D;MetaSVM_score=1.082;MetaSVM_pred=D;MetaLR_score=0.937;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.42;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.406;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-635.166,0,-859.606:1417:727:654:19307:22876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38739976 . G A 5752.58 . AB=0.499281;ABP=3.01342;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=695;DPB=695;DPRA=0;EPP=117.06;EPPR=85.2878;GTI=0;LEN=1;MEANALT=3;MQM=36.0346;MQMR=35.8694;NS=1;NUMALT=1;ODDS=1324.58;PAIRED=0.962536;PAIREDR=0.967359;PAO=0;PQA=0;PQR=0;PRO=0;QA=10543;QR=10451;RO=337;RPL=105;RPP=120.464;RPPR=157.816;RPR=242;RUN=1;SAF=252;SAP=157.26;SAR=95;SF=0;SRF=214;SRP=56.3692;SRR=123;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C4441T:p.R1481X,SCN10A:NM_001293306:exon27:c.C4732T:p.R1578X,SCN10A:NM_006514:exon27:c.C4735T:p.R1579X;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751743006;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.242e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=13.467;CADD_phred=42;DANN_score=0.998;fathmm-MKL_coding_score=0.866;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.52;phyloP7way_vertebrate=-0.020;phyloP20way_mammalian=0.079;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.917;SiPhy_29way_logOdds=12.917;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM166538#"Neurodevelopmental_disorder_severe";gnomAD_exome_ALL=4.066e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.973e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-622.572,0,-614.81:695:337:347:10543:10451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38740001 . C T 9333.83 . AB=0.47012;ABP=12.743;AC=2;AF=0.5;AN=4;AO=590;CIGAR=1X;DP=2425;DPB=1255;DPRA=0;EPP=5.49829;EPPR=28.294;GTI=0;LEN=1;MEANALT=3;MQM=37.5271;MQMR=38.3135;NS=1;NUMALT=1;ODDS=2223.11;PAIRED=0.962712;PAIREDR=0.980198;PAO=0;PQA=0;PQR=0;PRO=0;QA=16574;QR=17329;RO=606;RPL=166;RPP=247.997;RPPR=205.982;RPR=424;RUN=1;SAF=356;SAP=57.7903;SAR=234;SF=0;SRF=359;SRP=47.9591;SRR=247;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4416A:p.T1472T,SCN10A:NM_001293306:exon27:c.G4707A:p.T1569T,SCN10A:NM_006514:exon27:c.G4710A:p.T1570T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0142;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0142;1000g2015aug_all=0.0579073;avsnp147=rs78425180;Kaviar_AF=0.0356852;Kaviar_AC=5517;Kaviar_AN=154602;ExAC_ALL=0.0370;ExAC_AFR=0.0039;ExAC_AMR=0.0905;ExAC_EAS=0.2114;ExAC_FIN=0.0062;ExAC_NFE=0.0148;ExAC_OTH=0.0453;ExAC_SAS=0.0297;CLNALLELEID=101302;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0388;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0862;gnomAD_exome_ASJ=0.0209;gnomAD_exome_EAS=0.2092;gnomAD_exome_FIN=0.0055;gnomAD_exome_NFE=0.0143;gnomAD_exome_OTH=0.0272;gnomAD_exome_SAS=0.0296;gnomAD_genome_ALL=0.0216;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0634;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.2065;gnomAD_genome_FIN=0.0060;gnomAD_genome_NFE=0.0139;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1004.68,0,-1077.97:1255:606:590:16574:17329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-955.14,0,-970.664:1170:557:573:15768:15773 . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38740051 . G A 8521.85 . AB=0.477842;ABP=7.43692;AC=1;AF=0.5;AN=2;AO=496;CIGAR=1X;DP=1038;DPB=1038;DPRA=0;EPP=164.4;EPPR=158.035;GTI=0;LEN=1;MEANALT=3;MQM=38.5;MQMR=39.1076;NS=1;NUMALT=1;ODDS=1962.23;PAIRED=0.987903;PAIREDR=0.972603;PAO=0;PQA=0;PQR=0;PRO=0;QA=13932;QR=14930;RO=511;RPL=203;RPP=38.4718;RPPR=25.6557;RPR=293;RUN=1;SAF=239;SAP=4.42876;SAR=257;SF=0;SRF=257;SRP=3.04855;SRR=254;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C4366T:p.L1456L,SCN10A:NM_001293306:exon27:c.C4657T:p.L1553L,SCN10A:NM_006514:exon27:c.C4660T:p.L1554L;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs745999522;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=1.676e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.038e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=519179;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.859e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.328e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.462e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-880.404,0,-959.018:1038:511:496:13932:14930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38743571 . G A 4352.95 . AB=0.522059;ABP=5.30951;AC=4;AF=0.5;AN=8;AO=284;CIGAR=1X;DP=1963;DPB=544;DPRA=0;EPP=105.895;EPPR=12.9881;GTI=0;LEN=1;MEANALT=3;MQM=37.6655;MQMR=38.6835;NS=1;NUMALT=1;ODDS=946.518;PAIRED=0.978873;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8097;QR=7065;RO=237;RPL=131;RPP=6.71098;RPPR=23.2499;RPR=153;RUN=1;SAF=81;SAP=116.814;SAR=203;SF=0,1;SRF=53;SRP=160.245;SRR=184;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon25:c.C4122T:p.I1374I,SCN10A:NM_001293306:exon26:c.C4413T:p.I1471I,SCN10A:NM_006514:exon26:c.C4416T:p.I1472I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000199681;avsnp147=rs144944369;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0012;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0018;ExAC_NFE=0.0016;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=393570;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0738;dpsi_zscore=-0.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=9.27e-05;gnomAD_genome_ALL=0.0027;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0042;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-528.371,0,-438.891:544:237:284:8097:7065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-572.926,0,-608.718:636:309:311:9070:9355 . . . . . . . 0/1:-428.109,0,-604.547:556:297:238:6817:9066 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-261.686,0,-200.891:227:99:124:3801:3116:99,124 . . . . . chr3 38748833 . T C 7754.57 . AB=0.435673;ABP=27.5949;AC=41;AF=0.5;AN=76;AO=298;CIGAR=1X;DP=36676;DPB=684;DPRA=0;EPP=8.72317;EPPR=8.82674;GTI=0;LEN=1;MEANALT=3;MQM=34.6544;MQMR=36.2411;NS=1;NUMALT=1;ODDS=978.768;PAIRED=0.963087;PAIREDR=0.925595;PAO=0;PQA=0;PQR=0;PRO=0;QA=7883;QR=9817;RO=336;RPL=181;RPP=32.8571;RPPR=55.3583;RPR=117;RUN=1;SAF=150;SAP=3.03945;SAR=148;SF=0,1;SRF=176;SRP=4.66476;SRR=160;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon24:c.A4029G:p.K1343K,SCN10A:NM_001293306:exon25:c.A4320G:p.K1440K,SCN10A:NM_006514:exon25:c.A4323G:p.K1441K;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2099;esp6500siv2_ea=0.1430;esp6500siv2_all=0.2099;esp6500siv2_ea=0.1430;1000g2015aug_all=0.242412;avsnp147=rs6790627;Kaviar_AF=0.174959;Kaviar_AC=27049;Kaviar_AN=154602;ExAC_ALL=0.1786;ExAC_AFR=0.3387;ExAC_AMR=0.2586;ExAC_EAS=0.3301;ExAC_FIN=0.0771;ExAC_NFE=0.1396;ExAC_OTH=0.1589;ExAC_SAS=0.1418;CLNALLELEID=367531;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5344;dpsi_zscore=1.166;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1779;gnomAD_exome_AFR=0.3405;gnomAD_exome_AMR=0.2509;gnomAD_exome_ASJ=0.1622;gnomAD_exome_EAS=0.3307;gnomAD_exome_FIN=0.0856;gnomAD_exome_NFE=0.1404;gnomAD_exome_OTH=0.1745;gnomAD_exome_SAS=0.1403;gnomAD_genome_ALL=0.2000;gnomAD_genome_AFR=0.3336;gnomAD_genome_AMR=0.2160;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.3274;gnomAD_genome_FIN=0.0896;gnomAD_genome_NFE=0.1377;gnomAD_genome_OTH=0.1405;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-436.645,0,-601.862:684:336:298:7883:9817 0/1:-679.108,0,-769.022:984:460:470:12392:13204 . . 0/1:-743.447,0,-917.85:1085:532:491:13287:15457 0/1:-673.76,0,-825.117:954:477:435:12127:13890 0/1:-676.198,0,-924.409:1092:539:487:13245:15795 . 0/1:-705.3,0,-863.172:1030:499:471:12671:14619 . . 0/1:-533.324,0,-576.513:740:350:344:9560:10127 . . . 0/1:-801.086,0,-854.984:1057:480:515:14574:14148 0/1:-556.94,0,-640.163:811:379:380:10338:11223 0/1:-483.977,0,-651.46:743:374:320:8959:10768 . . 0/1:-826.457,0,-1036.93:1249:611:577:15241:17632 . 1/1:-1465.56,-203.129,0:783:9:715:19287:241 . . 0/1:-523.906,0,-529.513:779:343:382:9798:9838 . 0/1:-538.321,0,-720.985:862:421:387:9951:12382 . . . . 0/1:-835.404,0,-1026.94:1207:575:566:15149:17139 . 0/1:-591.236,0,-735.312:901:435:419:11160:12439 . . . 0/1:-764.034,0,-766.789:1011:464:490:13198:13359 . 0/1:-737.937,0,-675.347:937:403:464:12438:11695 . 0/1:-699.231,0,-863.453:1068:497:502:12732:14914 . . 0/1:-543.821,0,-693.481:818:393:371:10042:11535 0/1:-817.249,0,-1152.62:1269:656:542:15018:19177 0/1:-796.893,0,-997.027:1141:555:522:14171:16403 . . . . . . . . 0/1:-673.31,0,-978.586:1067:544:458:12064:16014 0/1:-413.773,0,-459.368:604:288:287:7614:8364 0/1:-969.784,0,-1055.94:1353:632:654:17759:18197 0/1:-722.654,0,-705.218:920:421:455:12345:12174 . . . . . . . . . . . . . . . 0/1:-608.141,0,-442.303:716:286:386:10523:8277 0/1:-413.837,0,-441.297:585:272:273:7373:7772 0/1:-773.307,0,-767.848:1095:495:532:14037:13968 1/1:-2319.79,-289.85,0:1197:22:1098:29816:561 . . 0/1:-605.064,0,-654.639:856:396:402:10847:11593 . . . . 1/1:-1770.09,-201.073,0:957:28:873:23119:838 . 0/1:-633.001,0,-651.79:880:397:439:11741:11361 . . 0/1:-695.381,0,-960.621:1117:564:501:13120:16472 . 0/1:-996.943,0,-1099.88:1055:524:507:15745:16711:524,507 . . . . 0/1:-939.922,0,-955.518:1024:483:510:15191:15185:483,510 . . . 0/1:-888.069,0,-1029:1020:521:473:14501:16242:521,473 . . . . . . . . . 0/1:-782.662,0,-1073.16:1025:525:468:13884:16664:525,468 chr3 38753732 . A T 7658.43 . AB=0.434197;ABP=39.3043;AC=2;AF=0.5;AN=4;AO=419;CIGAR=1X;DP=2172;DPB=965;DPRA=0;EPP=78.8875;EPPR=56.0563;GTI=0;LEN=1;MEANALT=3;MQM=37.5203;MQMR=37.8233;NS=1;NUMALT=1;ODDS=1581.25;PAIRED=0.983294;PAIREDR=0.977444;PAO=0;PQA=0;PQR=0;PRO=0;QA=11858;QR=16674;RO=532;RPL=198;RPP=5.75185;RPPR=6.21036;RPR=221;RUN=1;SAF=235;SAP=16.49;SAR=184;SF=0,1;SRF=317;SRP=45.4765;SRR=215;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon21:c.T3715A:p.S1239T,SCN10A:NM_001293306:exon22:c.T4006A:p.S1336T,SCN10A:NM_006514:exon22:c.T4009A:p.S1337T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0065;1000g2015aug_all=0.00119808;avsnp147=rs11711062;Kaviar_AF=0.0044307;Kaviar_AC=685;Kaviar_AN=154602;ExAC_ALL=0.0045;ExAC_AFR=0.0007;ExAC_AMR=0.0047;ExAC_EAS=0.0001;ExAC_FIN=0.0008;ExAC_NFE=0.0066;ExAC_OTH=0.0044;ExAC_SAS=0.0021;CLNALLELEID=236912;CLNDN=Brugada_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.574;SIFT_pred=T;Polyphen2_HDIV_score=0.059;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.05;Polyphen2_HVAR_pred=B;LRT_score=0.937;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=-3.75;FATHMM_pred=D;PROVEAN_score=-0.62;PROVEAN_pred=N;VEST3_score=0.123;CADD_raw=-1.271;CADD_phred=0.005;DANN_score=0.261;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.323;MetaSVM_pred=T;MetaLR_score=0.452;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-9.34;phyloP7way_vertebrate=-1.240;phyloP20way_mammalian=-0.201;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.081;SiPhy_29way_logOdds=1.160;GDI_full_10282015=.;dpsi_max_tissue=0.2671;dpsi_zscore=0.841;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM147574#"Brugada_syndrome";gnomAD_exome_ALL=0.0046;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0072;gnomAD_exome_OTH=0.0082;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0033;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0053;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-706.762,0,-1089.13:965:532:419:11858:16674 . . . . . . . . . . . . . 0/1:-1160.9,0,-1285.64:1207:599:592:17801:19209:599,592 . . . . . . . . . . chr3 38760151 . A G 12237.80 . AB=0.508046;ABP=3.74411;AC=1;AF=0.5;AN=2;AO=663;CIGAR=1X;DP=1305;DPB=1305;DPRA=0;EPP=50.9628;EPPR=12.9285;GTI=0;LEN=1;MEANALT=3;MQM=37.2745;MQMR=37.7496;NS=1;NUMALT=1;ODDS=2653.69;PAIRED=0.950226;PAIREDR=0.941463;PAO=0;PQA=0;PQR=0;PRO=0;QA=20056;QR=19030;RO=615;RPL=190;RPP=265.32;RPPR=151.394;RPR=473;RUN=1;SAF=412;SAP=87.9073;SAR=251;SF=0;SRF=377;SRP=71.2298;SRR=238;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon19:c.T3380C:p.I1127T,SCN10A:NM_001293306:exon20:c.T3671C:p.I1224T,SCN10A:NM_006514:exon20:c.T3674C:p.I1225T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs139638446;Kaviar_AF=0.0005563;Kaviar_AC=86;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=9.61e-05;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0011;ExAC_SAS=0.0007;CLNALLELEID=439143;CLNDN=Brugada_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.85;MutationAssessor_pred=H;FATHMM_score=-5.13;FATHMM_pred=D;PROVEAN_score=-4.81;PROVEAN_pred=D;VEST3_score=0.679;CADD_raw=6.175;CADD_phred=28.6;DANN_score=0.998;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_pred=D;MetaSVM_score=1.056;MetaSVM_pred=D;MetaLR_score=0.979;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.45;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.886;GDI_full_10282015=.;dpsi_max_tissue=-0.0765;dpsi_zscore=-0.372;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM147572#"Brugada_syndrome";gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1272.77,0,-1183.97:1305:615:663:20056:19030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38763863 . G C 11632.53 . AB=0.507181;ABP=3.50931;AC=61;AF=0.5;AN=114;AO=565;CIGAR=1X;DP=72618;DPB=1114;DPRA=0;EPP=3.19862;EPPR=3.11215;GTI=0;LEN=1;MEANALT=3;MQM=34.1044;MQMR=35.6398;NS=1;NUMALT=1;ODDS=2100.72;PAIRED=0.925664;PAIREDR=0.926829;PAO=0;PQA=0;PQR=0;PRO=0;QA=15725;QR=15641;RO=533;RPL=312;RPP=16.3889;RPPR=28.4365;RPR=253;RUN=1;SAF=304;SAP=10.1166;SAR=261;SF=0,1;SRF=271;SRP=3.3403;SRR=262;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon18:c.C3099G:p.T1033T,SCN10A:NM_001293306:exon19:c.C3390G:p.T1130T,SCN10A:NM_006514:exon19:c.C3393G:p.T1131T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2202;esp6500siv2_ea=0.2602;esp6500siv2_all=0.2202;esp6500siv2_ea=0.2602;1000g2015aug_all=0.219649;avsnp147=rs6771157;Kaviar_AF=0.239654;Kaviar_AC=37051;Kaviar_AN=154602;ExAC_ALL=0.2430;ExAC_AFR=0.1359;ExAC_AMR=0.1096;ExAC_EAS=0.3905;ExAC_FIN=0.2743;ExAC_NFE=0.2636;ExAC_OTH=0.2632;ExAC_SAS=0.2301;CLNALLELEID=251111;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0784;dpsi_zscore=0.412;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2394;gnomAD_exome_AFR=0.1322;gnomAD_exome_AMR=0.1137;gnomAD_exome_ASJ=0.3353;gnomAD_exome_EAS=0.3895;gnomAD_exome_FIN=0.2712;gnomAD_exome_NFE=0.2571;gnomAD_exome_OTH=0.2440;gnomAD_exome_SAS=0.2271;gnomAD_genome_ALL=0.2341;gnomAD_genome_AFR=0.1394;gnomAD_genome_AMR=0.1232;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.4056;gnomAD_genome_FIN=0.2573;gnomAD_genome_NFE=0.2677;gnomAD_genome_OTH=0.2648;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-925.337,0,-922.428:1114:533:565:15725:15641 0/1:-1146.29,0,-1399.27:1490:770:692:19612:22628 . . . 1/1:-3469.07,-439.664,0:1576:23:1535:43682:433 . 0/1:-1141.5,0,-1372.37:1497:766:705:19790:22793 . . . . 0/1:-827.458,0,-1052.73:1111:574:517:14710:16991 . . 0/1:-1412.19,0,-1692.92:1795:910:849:24260:27176 0/1:-633.389,0,-823.184:896:462:416:11470:13667 . 0/1:-913.468,0,-1204.26:1239:649:554:15823:19143 . . . 0/1:-670.687,0,-540.634:720:311:394:11055:9421 . . . 0/1:-965.03,0,-1235.28:1301:685:594:16782:20145 . . 0/1:-658.231,0,-810.164:867:448:397:11206:13251 0/1:-710.277,0,-1123.98:1084:602:463:12944:17801 0/1:-1272.35,0,-1610.35:1664:865:764:21703:25943 1/1:-2940.09,-341.872,0:1338:26:1280:37111:625 . . . 0/1:-881.608,0,-1082.91:1187:610:547:15177:17969 . . 0/1:-595.293,0,-783.816:799:418:365:10261:12476 0/1:-1118.57,0,-1496.49:1543:810:698:19800:23862 . . 0/1:-1067.59,0,-977.799:1173:548:613:17360:16383 0/1:-1071.52,0,-1446.03:1483:787:662:19137:23191 . . . 0/1:-782.048,0,-840.015:923:458:446:12918:13663 . 0/1:-1138.1,0,-1378.48:1446:745:681:19305:22299 0/1:-792.329,0,-863.921:1066:521:527:14561:15243 0/1:-1194.35,0,-1472.97:1529:790:709:20326:23686 . 0/1:-578.156,0,-776.764:869:462:391:10928:13602 0/1:-843.143,0,-851.704:962:469:478:13637:13777 0/1:-1091.18,0,-1196.69:1359:676:658:18471:19702 . 0/1:-669.558,0,-795.434:887:437:433:11705:13060 0/1:-1015.95,0,-1209.81:1323:650:641:17465:19736 0/1:-611.456,0,-643.427:776:373:386:10913:10882 . . . . 0/1:-1039.82,0,-1386.44:1420:750:642:17900:22079 0/1:-490.94,0,-645.937:704:369:319:9234:10901 0/1:-1121.96,0,-1079.86:1303:619:653:18736:18277 0/1:-908.6,0,-1069.88:1165:587:559:15405:17464 . . 0/1:-1518.42,0,-1627.97:1796:867:891:25105:26185 . 0/1:-463.808,0,-604.91:751:381:346:9209:10871 0/1:-938.469,0,-996.002:1093:545:524:15483:16313 0/1:-1087.45,0,-1402.13:1491:778:691:19044:23037 0/1:-1223.54,0,-1222.03:1413:677:702:20265:20049 0/1:-1240.52,0,-1329.63:1557:746:773:21113:22389 . . 0/1:-1141.95,0,-1248.52:1394:690:679:19575:20645 . 1/1:-3168.14,-363.886,0:1505:40:1439:40500:1001 . . . 0/1:-731.507,0,-861.125:922:473:433:12688:14267 0/1:-979.818,0,-1134.24:1276:648:604:17115:18892 0/1:-602.324,0,-598.032:707:344:348:10017:9913 . . 0/1:-947.42,0,-1075.32:1185:589:571:16193:18090 . 0/1:-1217.92,0,-1382.53:1488:760:702:20248:22508 . . . 0/1:-1475.93,0,-1817.63:1633:854:748:22813:26667:854,748 1/1:-4152.1,-439.266,0:1670:22:1617:48928:647:22,1617 . . . . 0/1:-1372.29,0,-1721.53:1578:828:716:21434:25407:828,716 0/1:-1309.8,0,-1481.22:1402:710:673:20294:22267:710,673 . 0/1:-1556.72,0,-2037.02:1767:960:774:24007:29820:960,774 0/1:-1071.84,0,-1254.46:1180:605:550:16580:18701:605,550 . 0/1:-1244.72,0,-1576.94:1412:750:640:19316:23225:750,640 0/1:-1563.82,0,-1642.36:1628:802:793:23989:24505:802,793 . . 0/1:-1204.13,0,-1386.35:1315:674:619:18620:20774:674,619 0/1:-1260.31,0,-1350.73:1299:652:627:19110:20209:652,627 0/1:-1525.35,0,-1562.92:1547:769:760:23158:23794:769,760 chr3 38764998 . A G 11468.31 . AB=0.379455;ABP=123.42;AC=61;AF=0.5;AN=114;AO=362;CIGAR=1X;DP=73205;DPB=954;DPRA=0;EPP=7.71316;EPPR=3.33303;GTI=0;LEN=1;MEANALT=3;MQM=34.4199;MQMR=35.0697;NS=1;NUMALT=1;ODDS=1069.73;PAIRED=0.900552;PAIREDR=0.853211;PAO=0;PQA=0;PQR=0;PRO=0;QA=9653;QR=16081;RO=545;RPL=248;RPP=110.72;RPPR=154.515;RPR=114;RUN=1;SAF=155;SAP=19.2304;SAR=207;SF=0,1;SRF=268;SRP=3.33303;SRR=277;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon17:c.T2981C:p.L994P,SCN10A:NM_001293306:exon18:c.T3272C:p.L1091P,SCN10A:NM_006514:exon18:c.T3275C:p.L1092P;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2200;esp6500siv2_ea=0.26;esp6500siv2_all=0.2200;esp6500siv2_ea=0.26;1000g2015aug_all=0.219649;avsnp147=rs12632942;Kaviar_AF=0.237862;Kaviar_AC=36774;Kaviar_AN=154602;ExAC_ALL=0.2790;ExAC_AFR=0.1570;ExAC_AMR=0.1454;ExAC_EAS=0.4314;ExAC_FIN=0.3188;ExAC_NFE=0.3007;ExAC_OTH=0.2917;ExAC_SAS=0.2531;CLNALLELEID=251112;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.604;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-1.72;FATHMM_pred=D;PROVEAN_score=3.19;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=0.961;CADD_phred=10.43;DANN_score=0.836;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.997;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=-0.53;phyloP7way_vertebrate=-0.666;phyloP20way_mammalian=-0.231;phastCons7way_vertebrate=0.769;phastCons20way_mammalian=0.961;SiPhy_29way_logOdds=11.785;GDI_full_10282015=.;dpsi_max_tissue=-0.0516;dpsi_zscore=-0.272;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM108212#"QRS_interval_association_with";gnomAD_exome_ALL=0.2401;gnomAD_exome_AFR=0.1326;gnomAD_exome_AMR=0.1141;gnomAD_exome_ASJ=0.3353;gnomAD_exome_EAS=0.3905;gnomAD_exome_FIN=0.2720;gnomAD_exome_NFE=0.2587;gnomAD_exome_OTH=0.2452;gnomAD_exome_SAS=0.2274;gnomAD_genome_ALL=0.2342;gnomAD_genome_AFR=0.1401;gnomAD_genome_AMR=0.1244;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.4063;gnomAD_genome_FIN=0.2574;gnomAD_genome_NFE=0.2678;gnomAD_genome_OTH=0.2637;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-492.745,0,-999.747:954:545:362:9653:16081 0/1:-1329.06,0,-1243.95:1599:731:797:22128:21283 . . . 1/1:-3754.64,-487.989,0:1800:23:1719:47060:545 . 0/1:-1259.44,0,-1347.95:1595:763:754:21177:22549 . . . . 0/1:-1017.66,0,-980.844:1271:594:624:17345:17158 . . 0/1:-1472.85,0,-1515.02:1828:879:876:24085:25547 0/1:-828.495,0,-808.61:1018:470:511:14170:14009 . 0/1:-811.7,0,-1217.93:1182:639:508:14245:19101 . . . 0/1:-731.79,0,-738.787:939:423:455:12432:12654 . . . 0/1:-1320.62,0,-1062.33:1433:616:753:20925:17931 . . 0/1:-993.062,0,-708.882:1059:446:579:16115:12638 0/1:-738.355,0,-921.931:1044:522:477:13268:15197 0/1:-1183.63,0,-1457.15:1596:798:737:20388:23692 1/1:-2732.96,-322.275,0:1318:30:1248:34666:799 . . . 0/1:-994.056,0,-1071.08:1300:606:631:16889:17502 . . 0/1:-638.149,0,-750.273:863:417:400:11038:12221 0/1:-1056.1,0,-1470.64:1529:797:671:18659:23614 . . 0/1:-894.898,0,-1064.94:1178:591:528:14953:17419 0/1:-1246.93,0,-1304.34:1584:753:753:20923:21670 . . . 0/1:-842.869,0,-933.748:1081:525:509:14277:15127 . 0/1:-1244.99,0,-1185.29:1473:680:740:20307:19804 0/1:-859.381,0,-1147.13:1307:665:585:15656:19063 0/1:-1238.67,0,-1387.28:1568:770:738:20683:22650 . 0/1:-774.14,0,-767.642:1021:459:510:13606:13332 0/1:-856.869,0,-928.534:1074:526:495:14019:15251 0/1:-1172.28,0,-1079.82:1359:619:681:19248:17925 . 0/1:-855.488,0,-657.745:942:414:495:13817:11911 0/1:-1088.29,0,-1423.54:1522:773:671:18644:22774 0/1:-672.584,0,-688.5:871:409:432:11774:12161 . . . . 0/1:-967.55,0,-1466.01:1509:802:629:17354:23760 0/1:-586.421,0,-585.013:739:346:359:10093:10227 0/1:-1049.4,0,-1101.29:1320:642:614:17215:18451 0/1:-947.717,0,-941.274:1178:538:600:16056:15994 . . 0/1:-1436.7,0,-1598.47:1821:882:871:24343:26169 . 0/1:-705.823,0,-732.719:1026:474:504:13312:13597 0/1:-887.374,0,-953.452:1148:549:543:15179:15484 0/1:-1262.73,0,-1253.25:1586:728:788:21529:21829 0/1:-1134.99,0,-1273.31:1467:706:706:19115:20607 0/1:-1191.96,0,-1421.97:1625:791:763:20806:23421 . . 0/1:-1037.99,0,-1270.78:1437:711:649:18205:20890 . 1/1:-3175.06,-392.131,0:1565:30:1471:40645:748 . . . 0/1:-774.541,0,-764.452:933:434:452:12623:12921 0/1:-1095.2,0,-1111.71:1371:638:681:18645:18780 0/1:-579.172,0,-711.444:782:407:351:9809:11766 . . 0/1:-1032.49,0,-964.273:1274:566:646:17776:16599 . 0/1:-1222.54,0,-1112.35:1457:656:746:20649:19202 . . . 0/1:-1205.42,0,-1360.71:1277:645:608:18291:20069:645,608 1/1:-3577.22,-374.637,0:1418:15:1382:41807:522:15,1382 . . . . 0/1:-1371.81,0,-1472.79:1396:703:651:20576:21751:703,651 0/1:-1124.11,0,-1351.78:1198:623:551:16916:19689:623,551 . 0/1:-1295.81,0,-1382.66:1320:645:645:19398:20451:645,645 0/1:-919.867,0,-1007.21:961:486:456:13909:15082:486,456 . 0/1:-1105.76,0,-1210.77:1143:574:543:16641:17979:574,543 0/1:-1148.82,0,-1373.36:1258:644:586:17660:20072:644,586 . . 0/1:-1071.68,0,-1314.21:1190:620:549:16649:19264:620,549 0/1:-1024.97,0,-1116.25:1072:544:505:15533:16671:544,505 0/1:-1507.46,0,-1371.53:1426:674:727:22318:20872:674,727 chr3 38766675 . A G 20087.92 . AB=0.527179;ABP=10.4465;AC=138;AF=0.5;AN=198;AO=611;CIGAR=1X;DP=139975;DPB=1159;DPRA=0;EPP=20.9258;EPPR=3.29508;GTI=0;LEN=1;MEANALT=3;MQM=35.2635;MQMR=36.3299;NS=1;NUMALT=1;ODDS=1674.93;PAIRED=0.895254;PAIREDR=0.922131;PAO=0;PQA=0;PQR=0;PRO=0;QA=17857;QR=13444;RO=488;RPL=239;RPP=65.8764;RPPR=116.924;RPR=372;RUN=1;SAF=359;SAP=43.6996;SAR=252;SF=0,1;SRF=298;SRP=54.9121;SRR=190;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.T2924C:p.V975A,SCN10A:NM_001293306:exon17:c.T3215C:p.V1072A,SCN10A:NM_006514:exon17:c.T3218C:p.V1073A;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.7025;esp6500siv2_ea=0.6019;esp6500siv2_all=0.7025;esp6500siv2_ea=0.6019;1000g2015aug_all=0.757987;avsnp147=rs6795970;Kaviar_AF=0.648258;Kaviar_AC=100222;Kaviar_AN=154602;ExAC_ALL=0.6586;ExAC_AFR=0.9072;ExAC_AMR=0.6796;ExAC_EAS=0.8436;ExAC_FIN=0.5514;ExAC_NFE=0.6036;ExAC_OTH=0.6264;ExAC_SAS=0.6564;CLNALLELEID=251113;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.115;MutationAssessor_pred=N;FATHMM_score=-3.69;FATHMM_pred=D;PROVEAN_score=0.51;PROVEAN_pred=N;VEST3_score=0.018;CADD_raw=-0.943;CADD_phred=0.021;DANN_score=0.538;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.912;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-4.56;phyloP7way_vertebrate=-0.841;phyloP20way_mammalian=-0.733;phastCons7way_vertebrate=0.027;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=0.783;GDI_full_10282015=.;dpsi_max_tissue=0.2564;dpsi_zscore=0.823;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM108213#"QRS_interval_association_with";gnomAD_exome_ALL=0.6508;gnomAD_exome_AFR=0.9122;gnomAD_exome_AMR=0.6879;gnomAD_exome_ASJ=0.5802;gnomAD_exome_EAS=0.8484;gnomAD_exome_FIN=0.5494;gnomAD_exome_NFE=0.6030;gnomAD_exome_OTH=0.6201;gnomAD_exome_SAS=0.6449;gnomAD_genome_ALL=0.7048;gnomAD_genome_AFR=0.9093;gnomAD_genome_AMR=0.6957;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.8673;gnomAD_genome_FIN=0.5289;gnomAD_genome_NFE=0.6167;gnomAD_genome_OTH=0.6237;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1103.68,0,-754.486:1159:488:611:17857:13444 0/1:-1168.87,0,-1398.59:1663:882:722:20937:23455 0/1:-1186.85,0,-944.763:1285:581:656:19536:15992 0/1:-797.919,0,-554.126:863:386:453:13477:10245 0/1:-1373.81,0,-972.528:1488:649:776:22990:17707 1/1:-4121.35,-504.187,0:1816:13:1763:52075:388 0/1:-985.955,0,-977.863:1233:590:593:17460:16273 1/1:-3497.99,-415.398,0:1605:27:1537:45225:660 0/1:-1002.61,0,-1009.81:1268:622:584:17109:16923 1/1:-3090.35,-381.729,0:1409:15:1365:40230:403 . 0/1:-1206.35,0,-973.55:1344:617:678:20040:16921 1/1:-2933.05,-350.384,0:1290:17:1252:37524:438 0/1:-919.566,0,-904.032:1218:587:575:16662:15721 . 1/1:-4496.3,-562.291,0:1927:4:1893:56691:125 0/1:-890.275,0,-799.548:1107:521:534:15511:14360 0/1:-2166.63,0,-2433.26:2895:1470:1304:38148:40156 1/1:-3080.37,-383.235,0:1346:6:1316:38791:168 0/1:-948.104,0,-754.323:1088:503:543:16098:13417 1/1:-2468.64,-295.987,0:1055:9:1027:30657:219 0/1:-1129.72,0,-1253.9:1506:760:666:19540:20380 0/1:-796.32,0,-677.896:951:438:479:13940:12004 . 0/1:-1421.8,0,-1253.28:1638:760:816:23935:20734 1/1:-2431.87,-318.561,0:1096:4:1075:31447:87 0/1:-1314.97,0,-1057.56:1471:671:743:21628:18281 0/1:-1092.07,0,-942.681:1264:602:598:17936:15869 1/1:-2383.27,-319.985,0:1105:4:1078:31030:74 1/1:-2222.87,-260.676,0:952:9:927:27892:289 1/1:-2564.08,-323.556,0:1144:10:1114:32884:249 0/1:-1439.74,0,-1395.86:1755:851:822:24393:23430 1/1:-3378.16,-417.226,0:1477:11:1431:42112:300 0/1:-1031.19,0,-741.606:1114:491:576:17084:13030 0/1:-1231.51,0,-1147.83:1487:698:720:21320:19237 0/1:-1507.39,0,-1099.67:1580:710:814:24552:19351 0/1:-1233.15,0,-1067.74:1415:655:688:20129:17920 1/1:-2955.75,-363.141,0:1290:10:1257:37777:238 0/1:-1107.55,0,-1024.17:1362:647:660:19406:17635 0/1:-747.864,0,-767.725:981:487:453:12752:12924 1/1:-4242.21,-525.033,0:1871:14:1823:53796:356 0/1:-1194.53,0,-760.611:1249:525:673:19700:14012 0/1:-1369.21,0,-1187.89:1528:701:766:22566:19698 1/1:-3202.03,-400.497,0:1399:7:1362:40549:151 0/1:-1544.47,0,-1297.15:1749:797:883:25719:22313 0/1:-1197.08,0,-1230.3:1482:725:695:20386:20275 0/1:-1229.46,0,-1007.45:1389:641:696:20392:17569 . 1/1:-2686.77,-334.737,0:1157:4:1130:33280:109 0/1:-1658.35,0,-1166.13:1744:745:920:27111:20079 1/1:-3817.94,-462.208,0:1648:14:1606:47486:322 1/1:-2891.4,-373.98,0:1352:10:1311:37778:281 0/1:-1342.15,0,-1402.57:1665:819:776:23102:22955 0/1:-1408.39,0,-1385.75:1761:850:828:24503:23128 0/1:-902.647,0,-617.563:1002:432:535:15358:11397 0/1:-1018.95,0,-907.325:1183:556:574:16940:15223 0/1:-1262.96,0,-1098.2:1463:669:720:20906:18715 1/1:-1698.25,-226.05,0:794:7:769:22622:133 1/1:-2196.14,-262.368,0:989:14:959:28382:372 1/1:-3652.16,-454.726,0:1606:7:1551:45455:177 1/1:-1857.31,-240.963,0:854:6:826:23800:141 . 0/1:-997.161,0,-1104.41:1272:661:559:16625:18367 . . 0/1:-1322.31,0,-1133.16:1527:723:750:22131:19461 0/1:-654.995,0,-517.122:774:337:390:11152:9209 0/1:-1115.91,0,-987.819:1311:618:638:18671:16645 0/1:-1286.38,0,-793.205:1312:551:714:20812:14527 . 0/1:-1179.61,0,-940.328:1373:624:687:19858:16356 0/1:-1573.07,0,-1552.09:1910:946:897:26464:25953 . 0/1:-692.788,0,-657.453:964:441:476:12878:12524 0/1:-1106.15,0,-844.302:1211:531:621:18504:14646 0/1:-1529.4,0,-1278.75:1791:834:888:25593:22221 1/1:-3702.1,-449.562,0:1648:15:1597:47240:425 0/1:-1348.07,0,-1132.05:1585:733:784:23043:20022 1/1:-2097.3,-260.815,0:925:5:899:27010:153 1/1:-1920.15,-235.282,0:870:10:846:25213:253 1/1:-3604.7,-455.047,0:1598:9:1559:45946:206 1/1:-3543.27,-432.682,0:1555:14:1507:44756:313 1/1:-3788.42,-484.909,0:1671:3:1633:48259:86 . 1/1:-2580.63,-331.822,0:1171:5:1137:32974:136 . 0/1:-822.973,0,-679.594:938:434:455:13554:11634 1/1:-3134.81,-395.763,0:1397:8:1356:40130:188 1/1:-1743.12,-216.503,0:753:2:732:21597:59 1/1:-3052.52,-370.943,0:1358:17:1319:38784:448 0/1:-1567.65,0,-1423.97:1904:876:935:27178:24275 1/1:-2986.68,-377.722,0:1326:10:1293:37981:222 0/1:-1448.74,0,-1464.4:1774:890:814:24456:24450 0/1:-1391.06,0,-1268.02:1645:797:787:23510:21861 0/1:-1407.17,0,-1135.91:1654:751:814:23564:20037 . 1/1:-4921.35,-538.926,0:1875:9:1847:57907:223:9,1847 0/1:-1860.91,0,-1483.78:1682:767:879:27693:23095:767,879 1/1:-4766.69,-481.505,0:1813:23:1764:55915:650:23,1764 0/1:-983.819,0,-1101.24:1077:569:478:15137:16491:569,478 . 1/1:-4249.63,-456.887,0:1608:10:1577:50224:242:10,1577 . 1/1:-4773.47,-472.425,0:1833:29:1786:56980:853:29,1786 0/1:-1525.74,0,-1455.59:1512:746:734:23269:22078:746,734 0/1:-1791.03,0,-1508.77:1745:823:870:27193:23745:823,870 1/1:-4604.17,-486.447,0:1710:9:1677:54150:250:9,1677 0/1:-1445.89,0,-1256.6:1377:654:687:21593:19521:654,687 . 0/1:-1567.58,0,-1337.5:1465:696:731:23269:20507:696,731 0/1:-1843.69,0,-1738.24:1852:901:900:28101:26488:901,900 . . 0/1:-1625.73,0,-1289.01:1511:704:769:24106:20211:704,769 1/1:-3686.72,-387.731,0:1386:9:1364:43262:290:9,1364 0/1:-1959.91,0,-1570.44:1780:824:917:29321:24430:824,917 chr3 38766701 . C T 11933.19 . AB=0.433312;ABP=62.3832;AC=28;AF=0.5;AN=54;AO=666;CIGAR=1X;DP=42800;DPB=1537;DPRA=0;EPP=113.397;EPPR=97.2596;GTI=0;LEN=1;MEANALT=3;MQM=33.0781;MQMR=34.6962;NS=1;NUMALT=1;ODDS=2126.88;PAIRED=0.923423;PAIREDR=0.886999;PAO=0;PQA=0;PQR=0;PRO=0;QA=18086;QR=24935;RO=823;RPL=340;RPP=3.64935;RPPR=19.4771;RPR=326;RUN=1;SAF=387;SAP=41.0404;SAR=279;SF=0,1;SRF=481;SRP=53.9885;SRR=342;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.G2898A:p.T966T,SCN10A:NM_001293306:exon17:c.G3189A:p.T1063T,SCN10A:NM_006514:exon17:c.G3192A:p.T1064T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.1612;esp6500siv2_ea=0.1414;esp6500siv2_all=0.1612;esp6500siv2_ea=0.1414;1000g2015aug_all=0.115415;avsnp147=rs6791171;Kaviar_AF=0.126564;Kaviar_AC=19567;Kaviar_AN=154602;ExAC_ALL=0.1256;ExAC_AFR=0.2073;ExAC_AMR=0.1187;ExAC_EAS=0.0007;ExAC_FIN=0.1107;ExAC_NFE=0.1411;ExAC_OTH=0.1109;ExAC_SAS=0.0883;CLNALLELEID=251114;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2389;dpsi_zscore=-0.757;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1217;gnomAD_exome_AFR=0.2041;gnomAD_exome_AMR=0.1224;gnomAD_exome_ASJ=0.0869;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.1068;gnomAD_exome_NFE=0.1448;gnomAD_exome_OTH=0.1180;gnomAD_exome_SAS=0.0863;gnomAD_genome_ALL=0.1534;gnomAD_genome_AFR=0.2130;gnomAD_genome_AMR=0.1444;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0999;gnomAD_genome_NFE=0.1510;gnomAD_genome_OTH=0.1235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-950.552,0,-1492.5:1537:823:666:18086:24935 . . 0/1:-1037.29,0,-1356.06:1420:730:649:18236:22207 0/1:-947.401,0,-1289.3:1376:702:625:17240:21248 . 0/1:-1669.84,0,-2017.86:2199:1080:1038:28995:33060 . 0/1:-1960.93,0,-3409.67:3213:1769:1335:36209:53482 . . . . . . 0/1:-1279.61,0,-1746.07:1807:907:835:22371:27709 . . 0/1:-1035.12,0,-1391.97:1412:734:640:18004:22223 . 0/1:-812.825,0,-973.279:1070:523:517:13978:16099 . . . 0/1:-992.437,0,-1054.6:1235:582:597:16681:17364 0/1:-1208.2,0,-1604.92:1667:854:763:21479:25808 . . 0/1:-961.111,0,-1420.67:1462:749:648:17637:22912 0/1:-1058.97,0,-1482.32:1559:810:693:19050:23886 . . . . . . . . . 0/1:-827.785,0,-1291.34:1272:686:546:14904:20304 . . . . 0/1:-1261.69,0,-1892.18:1925:1000:854:22830:30215 . . . 1/1:-1709.05,-218.558,0:914:22:833:22709:561 0/1:-731.737,0,-1120.76:1123:594:492:13434:18049 . . . . . . . . . . . 0/1:-1111.24,0,-1346.4:1475:736:696:19327:22061 . . . . . 0/1:-1407.31,0,-1558.27:1835:880:892:24528:26014 . 0/1:-808.773,0,-877.871:1044:508:508:13995:15315 0/1:-576.921,0,-1002.05:999:554:414:11240:16751 . . . . 0/1:-963.125,0,-1147.51:1333:632:644:17127:19015 . . 0/1:-1072.61,0,-1562.89:1604:834:717:19477:25605 . . 0/1:-1455.16,0,-2054.85:2114:1080:958:26349:32903 . . . . . 0/1:-2095.6,0,-2196.81:2132:1051:1040:31824:33140:1051,1040 . . 0/1:-926.232,0,-1449.2:1178:667:495:14986:20870:667,495 . . . 0/1:-1860.72,0,-2230.36:2033:1052:940:28753:33222:1052,940 . . 0/1:-1809.82,0,-2010.06:1862:950:890:27565:30094:950,890 . . . . . . . . . chr3 38766760 . G T 10858.85 . AB=0.455721;ABP=29.3557;AC=2;AF=0.5;AN=4;AO=705;CIGAR=1X;DP=3341;DPB=1547;DPRA=0;EPP=11.0216;EPPR=21.7412;GTI=0;LEN=1;MEANALT=3;MQM=36.2284;MQMR=35.1161;NS=1;NUMALT=1;ODDS=2359.41;PAIRED=0.934752;PAIREDR=0.900978;PAO=0;PQA=0;PQR=0;PRO=0;QA=18291;QR=24744;RO=818;RPL=461;RPP=148.049;RPPR=161.055;RPR=244;RUN=1;SAF=340;SAP=4.93536;SAR=365;SF=0;SRF=422;SRP=4.80482;SRR=396;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.C2839A:p.P947T,SCN10A:NM_001293306:exon17:c.C3130A:p.P1044T,SCN10A:NM_006514:exon17:c.C3133A:p.P1045T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0227;esp6500siv2_ea=0.0317;esp6500siv2_all=0.0227;esp6500siv2_ea=0.0317;1000g2015aug_all=0.00559105;avsnp147=rs73062575;Kaviar_AF=0.0158342;Kaviar_AC=2448;Kaviar_AN=154602;ExAC_ALL=0.0149;ExAC_AFR=0.0048;ExAC_AMR=0.0079;ExAC_EAS=0;ExAC_FIN=0.0143;ExAC_NFE=0.0224;ExAC_OTH=0.0101;ExAC_SAS=0.0041;CLNALLELEID=239227;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.116;SIFT_pred=T;Polyphen2_HDIV_score=0.101;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.061;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=-3.66;FATHMM_pred=D;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.073;CADD_raw=0.370;CADD_phred=6.350;DANN_score=0.813;fathmm-MKL_coding_score=0.068;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.406;MetaSVM_pred=T;MetaLR_score=0.469;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=2.52;phyloP7way_vertebrate=-1.415;phyloP20way_mammalian=-0.307;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=11.682;GDI_full_10282015=.;dpsi_max_tissue=0.9566;dpsi_zscore=1.495;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0156;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0079;gnomAD_exome_ASJ=0.0215;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0152;gnomAD_exome_NFE=0.0244;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0043;gnomAD_genome_ALL=0.0157;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0246;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1050.47,0,-1486.82:1547:818:705:18291:24744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1174.27,0,-1762.27:1794:961:806:21181:29003 . . . . . . . . . . . . . . . . . . . . . . chr3 38766825 . A G 9637.40 . AB=0.488513;ABP=3.95819;AC=9;AF=0.5;AN=18;AO=404;CIGAR=1X;DP=10456;DPB=827;DPRA=0;EPP=9.22372;EPPR=27.8137;GTI=0;LEN=1;MEANALT=3;MQM=35.4109;MQMR=37.2188;NS=1;NUMALT=1;ODDS=1447.36;PAIRED=0.925743;PAIREDR=0.94402;PAO=0;PQA=0;PQR=0;PRO=0;QA=11715;QR=10652;RO=393;RPL=205;RPP=3.2038;RPPR=16.2767;RPR=199;RUN=1;SAF=136;SAP=96.6631;SAR=268;SF=0;SRF=145;SRP=61.629;SRR=248;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0492;esp6500siv2_ea=0.0492;esp6500siv2_all=0.0492;esp6500siv2_ea=0.0492;1000g2015aug_all=0.0844649;avsnp147=rs11129804;Kaviar_AF=0.0616163;Kaviar_AC=9526;Kaviar_AN=154602;ExAC_ALL=0.0701;ExAC_AFR=0.0555;ExAC_AMR=0.1217;ExAC_EAS=0.1203;ExAC_FIN=0.0440;ExAC_NFE=0.0512;ExAC_OTH=0.0581;ExAC_SAS=0.1110;CLNALLELEID=367220;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1134;dpsi_zscore=0.523;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0684;gnomAD_exome_AFR=0.0553;gnomAD_exome_AMR=0.1158;gnomAD_exome_ASJ=0.0379;gnomAD_exome_EAS=0.1201;gnomAD_exome_FIN=0.0394;gnomAD_exome_NFE=0.0506;gnomAD_exome_OTH=0.0581;gnomAD_exome_SAS=0.0945;gnomAD_genome_ALL=0.0532;gnomAD_genome_AFR=0.0514;gnomAD_genome_AMR=0.1038;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0.1198;gnomAD_genome_FIN=0.0386;gnomAD_genome_NFE=0.0473;gnomAD_genome_OTH=0.0592;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-695.798,0,-646.076:827:393:404:11715:10652 . . . . . . . . . . . . . . 0/1:-1168.34,0,-1016.91:1291:593:653:18846:17062 0/1:-853.406,0,-775.3:1036:473:516:14602:12950 . . . . . . . . 0/1:-887.959,0,-845.667:1112:524:547:15314:14660 . . . . . . . . . . . . . . . . . . . . 0/1:-1350.29,0,-1498.76:1699:846:790:22613:23921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-745.804,0,-666.558:886:411:444:12733:11527 0/1:-701.336,0,-573.997:783:356:403:11605:10024 . 0/1:-1497.49,0,-994.32:1582:664:859:24079:17775 . . . . . . . 0/1:-983.667,0,-1063.03:1240:626:579:16687:17508 . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38768247 . G A 6579.98 . AB=0.466765;ABP=9.50547;AC=60;AF=0.5;AN=112;AO=316;CIGAR=1X;DP=46498;DPB=677;DPRA=0;EPP=12.9331;EPPR=51.2093;GTI=0;LEN=1;MEANALT=3;MQM=34.6203;MQMR=34.5396;NS=1;NUMALT=1;ODDS=1093.73;PAIRED=0.943038;PAIREDR=0.929619;PAO=0;PQA=0;PQR=0;PRO=0;QA=8578;QR=10804;RO=341;RPL=122;RPP=38.6334;RPPR=93.1869;RPR=194;RUN=1;SAF=145;SAP=7.6556;SAR=171;SF=0,1;SRF=173;SRP=3.1695;SRR=168;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.C2643T:p.G881G,SCN10A:NM_001293306:exon16:c.C2937T:p.G979G,SCN10A:NM_006514:exon16:c.C2937T:p.G979G;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.1901;esp6500siv2_ea=0.2614;esp6500siv2_all=0.1901;esp6500siv2_ea=0.2614;1000g2015aug_all=0.190495;avsnp147=rs59468016;Kaviar_AF=0.231646;Kaviar_AC=35813;Kaviar_AN=154602;ExAC_ALL=0.2350;ExAC_AFR=0.0452;ExAC_AMR=0.1043;ExAC_EAS=0.3922;ExAC_FIN=0.2736;ExAC_NFE=0.2635;ExAC_OTH=0.2539;ExAC_SAS=0.2315;CLNALLELEID=251115;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1476;dpsi_zscore=-0.575;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2328;gnomAD_exome_AFR=0.0412;gnomAD_exome_AMR=0.1073;gnomAD_exome_ASJ=0.3350;gnomAD_exome_EAS=0.3893;gnomAD_exome_FIN=0.2700;gnomAD_exome_NFE=0.2571;gnomAD_exome_OTH=0.2382;gnomAD_exome_SAS=0.2290;gnomAD_genome_ALL=0.2070;gnomAD_genome_AFR=0.0493;gnomAD_genome_AMR=0.1181;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.4061;gnomAD_genome_FIN=0.2547;gnomAD_genome_NFE=0.2661;gnomAD_genome_OTH=0.2572;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-487.095,0,-626.195:677:341:316:8578:10804 0/1:-648.212,0,-1027.17:1029:545:441:11995:17048 . . . 1/1:-2189.09,-277.999,0:1141:16:1046:28602:504 . 0/1:-602.055,0,-905.275:909:478:400:11270:14943 . . . . 0/1:-534.745,0,-713.736:759:380:346:9384:12062 . . 0/1:-799.723,0,-1169.8:1146:592:519:14474:18761 0/1:-405.928,0,-558.002:594:297:279:7316:9152 . 0/1:-500.901,0,-775.253:759:403:322:8963:12709 . . . 0/1:-294.67,0,-445.477:473:246:210:5799:7582 . . . 0/1:-553.655,0,-925.396:859:461:369:10132:14491 . . 0/1:-385.8,0,-733.707:660:370:262:7118:11666 0/1:-436.077,0,-791.215:704:394:293:8339:12353 0/1:-608.095,0,-1134.56:1039:574:429:11618:17776 1/1:-1812.97,-209.556,0:887:18:810:23174:517 . . . . . . 0/1:-393.611,0,-596.951:577:305:249:7079:9551 0/1:-583.009,0,-1016.58:935:506:401:11111:16195 . . 0/1:-529.246,0,-732.457:761:382:352:9545:12017 0/1:-568.318,0,-1062.77:948:544:382:10633:17069 . . . . . 0/1:-557.638,0,-985.084:910:489:377:10293:15279 0/1:-451.629,0,-693.076:719:366:310:8479:11622 0/1:-702.088,0,-998.942:1012:519:458:12430:16257 . 0/1:-411.275,0,-649.819:641:337:282:7741:10670 0/1:-452.911,0,-740.355:701:359:315:8432:11729 0/1:-608.518,0,-978.634:957:498:418:11114:15724 . 0/1:-369.859,0,-633.308:601:326:251:6978:10156 0/1:-727.112,0,-860.668:994:464:465:12689:14753 0/1:-362.08,0,-619.716:595:333:240:6706:10449 . . . . 0/1:-726.603,0,-883.806:966:470:466:12707:14907 0/1:-351.388,0,-478.414:505:255:227:6359:7952 0/1:-578.834,0,-837.114:813:426:358:10082:13356 0/1:-512.055,0,-768.227:760:398:322:9078:12608 . . 0/1:-737.938,0,-1089.49:1036:552:451:12761:17290 . 0/1:-306.739,0,-551.417:612:330:251:6547:10207 0/1:-485.755,0,-731.519:730:382:320:8805:11998 0/1:-731.954,0,-1014.47:1062:535:487:13119:16652 0/1:-701.606,0,-903.795:1012:495:462:12737:15381 0/1:-624.856,0,-1022.33:995:528:420:11355:16391 . . 0/1:-525.181,0,-961.7:914:489:380:10213:15444 . 1/1:-1980.83,-249.307,0:1029:17:949:25710:503 . . . 0/1:-444.335,0,-595.518:614:310:289:7850:9796 0/1:-605.021,0,-893.935:921:480:399:10686:14897 0/1:-332.917,0,-519.609:515:273:218:6043:8478 0/1:-496.412,0,-654.31:704:351:327:9026:11099 . 0/1:-521.081,0,-811.445:794:417:345:9560:13166 . 0/1:-615.07,0,-881.009:933:468:422:11437:14456 . . . 0/1:-906.955,0,-986.59:927:449:451:13777:14720:449,451 1/1:-2239.51,-242.126,0:940:14:898:26697:368:14,898 . . . . 0/1:-918.611,0,-1022.87:963:473:473:14210:15314:473,473 0/1:-688.377,0,-970.95:847:447:381:11106:14414:447,381 . 0/1:-843.164,0,-1057.33:961:493:451:13260:15961:493,451 0/1:-667.038,0,-780.165:730:365:346:10371:11756:365,346 . 0/1:-758.608,0,-994.584:875:454:402:11941:14760:454,402 0/1:-740.939,0,-1109.49:915:495:393:11994:16190:495,393 . . 0/1:-710.472,0,-854.957:764:380:369:11071:12564:380,369 0/1:-647.606,0,-933.603:775:416:347:10347:13467:416,347 0/1:-804.516,0,-1031.49:899:463:422:12564:15266:463,422 chr3 38768300 . T C 8148.50 . AB=0.46393;ABP=12.0959;AC=60;AF=0.5;AN=112;AO=373;CIGAR=1X;DP=52489;DPB=804;DPRA=0;EPP=12.7965;EPPR=45.9101;GTI=0;LEN=1;MEANALT=3;MQM=34.3056;MQMR=34.8561;NS=1;NUMALT=1;ODDS=1380;PAIRED=0.932976;PAIREDR=0.914634;PAO=0;PQA=0;PQR=0;PRO=0;QA=10782;QR=12030;RO=410;RPL=166;RPP=12.7965;RPPR=38.6224;RPR=207;RUN=1;SAF=199;SAP=6.64883;SAR=174;SF=0,1;SRF=236;SRP=23.3692;SRR=174;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2590G:p.I864V,SCN10A:NM_001293306:exon16:c.A2884G:p.I962V,SCN10A:NM_006514:exon16:c.A2884G:p.I962V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2103;esp6500siv2_ea=0.2620;esp6500siv2_all=0.2103;esp6500siv2_ea=0.2620;1000g2015aug_all=0.210663;avsnp147=rs57326399;Kaviar_AF=0.235411;Kaviar_AC=36395;Kaviar_AN=154602;ExAC_ALL=0.2409;ExAC_AFR=0.1082;ExAC_AMR=0.1068;ExAC_EAS=0.3919;ExAC_FIN=0.2734;ExAC_NFE=0.2642;ExAC_OTH=0.2550;ExAC_SAS=0.2318;CLNALLELEID=101300;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.117;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.17;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-1.77;FATHMM_pred=D;PROVEAN_score=0.18;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=-1.544;CADD_phred=0.002;DANN_score=0.344;fathmm-MKL_coding_score=0.064;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.095;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.526;integrated_confidence_value=0;GERP++_RS=-4.17;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=-0.205;phastCons7way_vertebrate=0.593;phastCons20way_mammalian=0.965;SiPhy_29way_logOdds=6.362;GDI_full_10282015=.;dpsi_max_tissue=0.0383;dpsi_zscore=0.242;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2373;gnomAD_exome_AFR=0.1021;gnomAD_exome_AMR=0.1103;gnomAD_exome_ASJ=0.3373;gnomAD_exome_EAS=0.3890;gnomAD_exome_FIN=0.2701;gnomAD_exome_NFE=0.2575;gnomAD_exome_OTH=0.2402;gnomAD_exome_SAS=0.2290;gnomAD_genome_ALL=0.2240;gnomAD_genome_AFR=0.1092;gnomAD_genome_AMR=0.1205;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.4057;gnomAD_genome_FIN=0.2547;gnomAD_genome_NFE=0.2662;gnomAD_genome_OTH=0.2597;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-609.025,0,-704.483:804:410:373:10782:12030 0/1:-809.202,0,-940.772:1082:549:496:14349:16073 . . . 1/1:-2590.49,-305.126,0:1226:24:1176:34227:688 . 0/1:-624.14,0,-932.69:1002:526:444:12178:15852 . . . . 0/1:-649.394,0,-797.002:883:455:401:11549:13418 . . 0/1:-861.516,0,-1188.2:1268:661:563:16296:19428 0/1:-486.617,0,-621.133:680:344:306:8854:10250 . 0/1:-580.282,0,-745.438:856:449:376:10820:12932 . . . 0/1:-379.837,0,-512.834:572:291:259:7374:8806 . . . 0/1:-798.099,0,-798.334:939:447:463:13530:13397 . . 0/1:-519.96,0,-664.425:737:373:343:9611:11175 0/1:-511.891,0,-776.44:803:431:338:9705:12732 0/1:-843.475,0,-1119.49:1178:621:514:15007:18364 1/1:-2195.35,-270.818,0:995:9:962:28148:262 . . . . . . 0/1:-458.22,0,-570.236:627:319:287:8269:9535 0/1:-692.258,0,-1114.22:1108:601:472:13531:17843 . . 0/1:-661.052,0,-810.171:915:467:408:11791:13837 0/1:-712.537,0,-1056.75:1058:578:451:13322:17206 . . . . . 0/1:-777.202,0,-1041.96:1061:559:466:13665:16606 0/1:-534.401,0,-723.497:813:412:356:10194:12423 0/1:-809.448,0,-1103.47:1142:609:492:14621:18136 . 0/1:-510.345,0,-546.149:681:323:330:9319:9420 0/1:-529.51,0,-667.307:744:369:349:10084:10894 0/1:-800.464,0,-980.769:1092:554:498:14270:16198 . 0/1:-551.551,0,-569.379:679:314:341:9754:9800 0/1:-854.938,0,-929.827:1109:522:542:15092:15719 0/1:-442.702,0,-571.129:675:347:303:8439:10024 . . . . 0/1:-868.058,0,-886.549:1052:499:512:15147:15441 0/1:-409.914,0,-448.862:554:260:266:7387:7681 0/1:-573.985,0,-820.456:872:457:381:11052:13458 0/1:-679.812,0,-726.299:876:430:416:12065:12704 . . 0/1:-871.458,0,-1190.48:1206:649:515:15132:19308 . 0/1:-468.886,0,-534.521:733:350:342:9609:10067 0/1:-610.479,0,-686.241:781:383:368:10626:11516 0/1:-924.914,0,-991.18:1205:577:584:16487:16852 0/1:-848.695,0,-924.369:1106:534:533:15247:15949 0/1:-803.835,0,-911.538:1068:530:495:14193:15443 . . 0/1:-702.048,0,-907.625:1017:521:461:13273:15255 . 1/1:-2355.81,-308.205,0:1126:10:1093:30652:285 . . . 0/1:-546.837,0,-619.138:718:358:338:9825:10680 0/1:-727.485,0,-908.766:1015:526:451:12852:15437 0/1:-420.033,0,-474.447:551:272:262:7457:8155 0/1:-592.281,0,-649.618:780:391:368:10672:11494 . 0/1:-596.358,0,-871.552:896:479:385:10996:14339 . 0/1:-753.795,0,-867.54:1026:501:479:13889:15004 . . . 0/1:-1117.01,0,-1060.44:1082:520:549:17002:16185:520,549 1/1:-2703.19,-279.739,0:1061:13:1041:32112:438:13,1041 . . . . 0/1:-1028.76,0,-1192.39:1106:566:518:16021:17699:566,518 0/1:-945.102,0,-1077.69:996:512:466:14540:16082:512,466 . 0/1:-1089.26,0,-1179.8:1111:566:526:16673:17739:566,526 0/1:-832.144,0,-823.564:836:415:408:12583:12658:415,408 . 0/1:-884.763,0,-1140.89:1003:538:447:13909:16907:538,447 0/1:-1035.57,0,-1138.96:1086:548:519:15916:17092:548,519 . . 0/1:-889.793,0,-1000.42:939:481:444:13810:14873:481,444 0/1:-858.624,0,-1039.33:915:474:423:13357:15158:474,423 0/1:-984.692,0,-1134.02:1043:539:487:15310:16783:539,487 chr3 38768334 . T C 6566.95 . AB=0.476684;ABP=5.74433;AC=10;AF=0.5;AN=20;AO=276;CIGAR=1X;DP=8655;DPB=579;DPRA=0;EPP=25.9524;EPPR=3.52123;GTI=0;LEN=1;MEANALT=3;MQM=33.5217;MQMR=35.5551;NS=1;NUMALT=1;ODDS=937.04;PAIRED=0.934783;PAIREDR=0.952206;PAO=0;PQA=0;PQR=0;PRO=0;QA=8023;QR=7289;RO=272;RPL=144;RPP=4.14324;RPPR=12.2391;RPR=132;RUN=1;SAF=153;SAP=10.0912;SAR=123;SF=0;SRF=165;SRP=29.8663;SRR=107;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2556G:p.K852K,SCN10A:NM_001293306:exon16:c.A2850G:p.K950K,SCN10A:NM_006514:exon16:c.A2850G:p.K950K;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0707;esp6500siv2_ea=0.0648;esp6500siv2_all=0.0707;esp6500siv2_ea=0.0648;1000g2015aug_all=0.135982;avsnp147=rs7374804;Kaviar_AF=0.0912989;Kaviar_AC=14115;Kaviar_AN=154602;ExAC_ALL=0.0947;ExAC_AFR=0.0876;ExAC_AMR=0.1270;ExAC_EAS=0.2700;ExAC_FIN=0.0482;ExAC_NFE=0.0644;ExAC_OTH=0.0925;ExAC_SAS=0.1257;CLNALLELEID=367520;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0799;dpsi_zscore=0.417;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0949;gnomAD_exome_AFR=0.0909;gnomAD_exome_AMR=0.1220;gnomAD_exome_ASJ=0.0577;gnomAD_exome_EAS=0.2757;gnomAD_exome_FIN=0.0458;gnomAD_exome_NFE=0.0656;gnomAD_exome_OTH=0.0716;gnomAD_exome_SAS=0.1233;gnomAD_genome_ALL=0.0799;gnomAD_genome_AFR=0.0868;gnomAD_genome_AMR=0.1127;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.2727;gnomAD_genome_FIN=0.0470;gnomAD_genome_NFE=0.0613;gnomAD_genome_OTH=0.0755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-454.549,0,-418.041:579:272:276:8023:7289 . . . . . . . . . . . . . . 0/1:-803.813,0,-515.005:878:365:479:13566:9802 0/1:-624.427,0,-660.467:824:411:383:11052:11068 . . . . . . . . 0/1:-611.189,0,-599.207:829:386:398:10908:10657 . . . . . . . . . . . . 0/1:-672.317,0,-723.552:968:467:451:12255:12547 . . . . . . . 0/1:-880.705,0,-940.903:1192:583:552:15836:15996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-505.883,0,-530.039:685:332:324:8964:9258 0/1:-447.981,0,-542.143:649:332:290:8272:8958 . 0/1:-997.559,0,-773.31:1207:542:617:17497:14245 . . . . . . . 0/1:-671.715,0,-551.178:844:383:413:11595:10216 . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38768368 . GGG AGA 5569.90 . AB=0.424714;ABP=50.4197;AC=1;AF=0.5;AN=2;AO=409;CIGAR=1X1M1X;DP=963;DPB=969.333;DPRA=0;EPP=29.7741;EPPR=7.78195;GTI=0;LEN=3;MEANALT=22;MQM=32.7946;MQMR=35.5622;NS=1;NUMALT=1;ODDS=1282.52;PAIRED=0.98533;PAIREDR=0.95279;PAO=8;PQA=167;PQR=104;PRO=4;QA=10560;QR=13967;RO=466;RPL=185;RPP=11.0856;RPPR=44.1844;RPR=224;RUN=1;SAF=212;SAP=4.20488;SAR=197;SF=0;SRF=265;SRP=22.0969;SRR=201;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=SCN10A:NM_001293307:exon15:c.2520_2522TCT,SCN10A:NM_001293306:exon16:c.2814_2816TCT,SCN10A:NM_006514:exon16:c.2814_2816TCT;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-569.187,0,-864.214:963:466:409:10560:13967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38768435 . T C 3889.10 . AB=0.476821;ABP=5.8289;AC=1;AF=0.5;AN=2;AO=288;CIGAR=1X;DP=604;DPB=604;DPRA=0;EPP=4.09604;EPPR=3.28751;GTI=0;LEN=1;MEANALT=3;MQM=29.8819;MQMR=32.2411;NS=1;NUMALT=1;ODDS=895.498;PAIRED=0.947917;PAIREDR=0.953901;PAO=0;PQA=0;PQR=0;PRO=0;QA=7839;QR=7928;RO=282;RPL=143;RPP=3.04046;RPPR=20.7517;RPR=145;RUN=1;SAF=113;SAP=31.9934;SAR=175;SF=0;SRF=129;SRP=7.44565;SRR=153;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2455G:p.I819V,SCN10A:NM_001293306:exon16:c.A2749G:p.I917V,SCN10A:NM_006514:exon16:c.A2749G:p.I917V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.08;SIFT_pred=T;Polyphen2_HDIV_score=0.022;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.945;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_pred=M;FATHMM_score=-2.51;FATHMM_pred=D;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.091;CADD_raw=2.820;CADD_phred=21.5;DANN_score=0.994;fathmm-MKL_coding_score=0.857;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.010;MetaSVM_pred=T;MetaLR_score=0.620;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=2.6;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.571;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=7.665;GDI_full_10282015=.;dpsi_max_tissue=-0.2388;dpsi_zscore=-0.757;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.062e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.959e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-399.406,0,-420.458:604:282:288:7839:7928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 38784029 . T C 10222.11 . AB=0.504601;ABP=3.1302;AC=134;AF=0.5;AN=194;AO=329;CIGAR=1X;DP=76812;DPB=652;DPRA=0;EPP=93.3607;EPPR=62.6327;GTI=0;LEN=1;MEANALT=3;MQM=37.1277;MQMR=37.1556;NS=1;NUMALT=1;ODDS=1191.05;PAIRED=0.902736;PAIREDR=0.926984;PAO=0;PQA=0;PQR=0;PRO=0;QA=9739;QR=9687;RO=315;RPL=297;RPP=466.511;RPPR=345.82;RPR=32;RUN=1;SAF=76;SAP=209.789;SAR=253;SF=0,1;SRF=67;SRP=228.85;SRR=248;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.6975;esp6500siv2_ea=0.5951;esp6500siv2_all=0.6975;esp6500siv2_ea=0.5951;1000g2015aug_all=0.757788;avsnp147=rs6599250;Kaviar_AF=0.642851;Kaviar_AC=99386;Kaviar_AN=154602;ExAC_ALL=0.6537;ExAC_AFR=0.9070;ExAC_AMR=0.6793;ExAC_EAS=0.8559;ExAC_FIN=0.5418;ExAC_NFE=0.5976;ExAC_OTH=0.6158;ExAC_SAS=0.6458;CLNALLELEID=251116;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0316;dpsi_zscore=0.206;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6474;gnomAD_exome_AFR=0.9119;gnomAD_exome_AMR=0.6849;gnomAD_exome_ASJ=0.6007;gnomAD_exome_EAS=0.8598;gnomAD_exome_FIN=0.5421;gnomAD_exome_NFE=0.5958;gnomAD_exome_OTH=0.6171;gnomAD_exome_SAS=0.6384;gnomAD_genome_ALL=0.7003;gnomAD_genome_AFR=0.9080;gnomAD_genome_AMR=0.6902;gnomAD_genome_ASJ=0.6333;gnomAD_genome_EAS=0.8728;gnomAD_genome_FIN=0.5232;gnomAD_genome_NFE=0.6096;gnomAD_genome_OTH=0.6163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-608.381,0,-597.536:652:315:329:9739:9687 0/1:-810.401,0,-903.844:932:469:444:13050:14579 0/1:-665.327,0,-680.898:731:353:366:10824:10859 0/1:-428.972,0,-339.408:426:187:233:6853:5837 0/1:-804.547,0,-679.772:816:366:436:13231:11348 1/1:-2425.67,-293.991,0:1009:3:987:29503:77 . 1/1:-2032.94,-234.693,0:900:13:866:25461:360 0/1:-710.544,0,-757.901:780:379:383:11467:11874 0/1:-828.196,0,-742.177:869:395:450:13171:12237 . 0/1:-763.518,0,-659.551:787:364:410:12264:11027 1/1:-1739.48,-212.794,0:752:6:729:21547:119 0/1:-440.293,0,-571.846:561:301:253:7293:9321 . 1/1:-2751.93,-330.557,0:1174:8:1143:33965:206 0/1:-417.987,0,-541.723:528:276:241:6950:8629 0/1:-1498.66,0,-1719.96:1744:871:837:24509:27336 1/1:-1733.17,-208.749,0:755:7:735:21382:196 0/1:-517.399,0,-534.015:592:288:290:8481:8843 1/1:-1384.05,-162.313,0:589:5:569:17105:123 0/1:-794.172,0,-833.261:923:441:461:13145:13482 0/1:-330.152,0,-413.681:422:219:192:5446:6689 . 0/1:-880.045,0,-984.405:1009:507:489:14264:15684 1/1:-1201.24,-153.013,0:549:4:529:15121:96 0/1:-763.835,0,-836.796:853:424:418:12247:13189 0/1:-559.69,0,-785.382:741:400:329:9697:12261 1/1:-1537.26,-186.215,0:680:8:658:19422:202 1/1:-1422.69,-158.485,0:622:11:592:17375:275 1/1:-1430,-166.207,0:614:7:593:17507:163 0/1:-802.375,0,-925.37:941:469:452:13362:14575 1/1:-1928.32,-237.106,0:854:6:822:23621:150 0/1:-649.843,0,-680.857:761:365:375:11025:11115 0/1:-765.004,0,-763.024:796:388:401:12215:12093 0/1:-702.875,0,-1050.82:944:516:411:12061:16389 . 1/1:-1646.05,-197.288,0:712:8:694:20008:172 0/1:-783.205,0,-696.008:804:377:415:12430:11684 0/1:-503.476,0,-528.327:568:273:287:8520:8450 1/1:-2382.88,-273.584,0:1010:11:981:29125:308 0/1:-710.137,0,-829.406:847:428:404:12096:13308 0/1:-709.741,0,-840.292:844:422:399:11544:13289 1/1:-1811.39,-214.539,0:760:3:735:21953:91 0/1:-855.39,0,-862.355:949:455:477:13842:13929 0/1:-762.444,0,-772.772:834:408:408:12173:12426 0/1:-746.984,0,-832.959:855:426:412:12135:13263 . 1/1:-1568.02,-179.94,0:652:5:637:19009:168 0/1:-906.121,0,-1015.73:1038:518:512:15080:16248 1/1:-2226.65,-273.671,0:960:6:941:27342:191 1/1:-1697.49,-208.563,0:767:10:744:21648:258 0/1:-774.928,0,-900.692:918:468:430:12735:14474 0/1:-780.254,0,-933.88:916:471:428:12872:14707 0/1:-510.932,0,-495.547:585:276:289:8521:8376 0/1:-432.549,0,-612.616:563:310:240:7178:9381 0/1:-864.226,0,-866.347:949:467:464:13771:14152 1/1:-1002.95,-131.123,0:477:3:458:12826:89 1/1:-1484.14,-173.552,0:650:7:624:18720:213 0/1:-808.996,0,-760.356:856:403:445:13117:12472 1/1:-1085.18,-136.074,0:487:4:472:13717:94 . 0/1:-733.243,0,-927.137:856:447:399:12008:14084 . . 1/1:-2127.95,-247.398,0:901:9:875:25881:223 0/1:-342.719,0,-381.557:433:210:214:6187:6422 0/1:-625.14,0,-749.125:751:381:360:10422:11943 0/1:-630.405,0,-656.721:717:344:359:10502:10781 . 0/1:-747.958,0,-828.24:869:444:414:12218:13568 0/1:-940.387,0,-1132.25:1114:566:526:15205:17464 . 0/1:-388.56,0,-491.253:534:270:250:6969:8124 0/1:-650.762,0,-692.691:736:369:355:10445:11027 0/1:-917.464,0,-1036.97:1102:555:529:15759:16749 1/1:-2234.47,-271.222,0:951:5:932:27670:146 0/1:-958.784,0,-886.557:992:465:506:15146:14443 1/1:-1311.09,-154.425,0:594:8:563:16234:206 1/1:-1188.2,-128.993,0:531:10:501:14747:293 1/1:-2201.74,-259.938,0:940:7:920:27132:225 1/1:-2156.85,-273.608,0:948:4:925:26784:87 1/1:-2475.31,-299.405,0:1082:7:1048:30467:208 . 0/1:-600.734,0,-698.504:730:360:355:10037:11241 . 0/1:-562.579,0,-533.001:583:276:295:8886:8644 1/1:-2154.47,-250.83,0:914:14:888:26361:318 1/1:-1112.08,-138.159,0:469:1:462:13613:14 1/1:-1581.79,-192.735,0:674:4:655:19204:96 0/1:-948.555,0,-1024.72:1077:524:532:15383:16350 1/1:-1835.38,-233.957,0:802:5:783:22765:95 0/1:-909.03,0,-845.591:968:447:505:14736:13843 0/1:-743.21,0,-931.686:950:485:444:12799:15026 0/1:-697.356,0,-1016.53:910:495:391:11662:15393 . 1/1:-2608.84,-276.184,0:1030:11:1001:31101:341:11,1001 0/1:-873.711,0,-893.995:842:415:423:12975:13293:415,423 1/1:-2255.43,-238.915,0:873:7:856:26460:237:7,856 0/1:-620.093,0,-540.522:545:257:284:9113:8116:257,284 . 1/1:-2210.85,-248.049,0:841:0:824:25665:0:0,824 . 1/1:-2005.56,-204.462,0:783:10:762:23724:340:10,762 0/1:-751.955,0,-736.612:732:361:363:11224:11254:361,363 0/1:-1014.02,0,-743.291:855:378:471:14883:11702:378,471 1/1:-2062.08,-220.065,0:785:5:774:24097:176:5,774 0/1:-608.711,0,-647.641:603:302:297:9191:9576:302,297 . 0/1:-759.72,0,-746.696:722:358:362:11341:11263:358,362 0/1:-835.197,0,-776.173:789:370:411:12534:11862:370,411 . . 0/1:-639.962,0,-589.609:605:291:308:9633:8927:291,308 1/1:-1590.83,-172.569,0:616:4:604:18683:118:4,604 0/1:-712.243,0,-821.697:756:392:352:10988:12266:392,352 chr3 38793940 . A G,C 4829.80 . AB=0.455479;ABP=18.0916;AC=9,0;AF=0.5;AN=20;AO=399;CIGAR=1X;DP=7287;DPB=876;DPRA=0;EPP=8.93695;EPPR=4.8635;GTI=0;LEN=1;MEANALT=3;MQM=35.6015;MQMR=36.5272;NS=1;NUMALT=1;ODDS=1495.47;PAIRED=0.929825;PAIREDR=0.907801;PAO=0;PQA=0;PQR=0;PRO=0;QA=11310;QR=11703;RO=423;RPL=254;RPP=67.6701;RPPR=43.6728;RPR=145;RUN=1;SAF=171;SAP=20.6923;SAR=228;SF=0,1;SRF=155;SRP=68.56;SRR=268;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.T1525C:p.S509P,SCN10A:NM_006514:exon11:c.T1525C:p.S509P;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0897;esp6500siv2_ea=0.0280;esp6500siv2_all=0.0897;esp6500siv2_ea=0.0280;1000g2015aug_all=0.139976;avsnp147=rs7630989;Kaviar_AF=0.0723859;Kaviar_AC=11191;Kaviar_AN=154602;ExAC_ALL=0.0761;ExAC_AFR=0.2136;ExAC_AMR=0.1076;ExAC_EAS=0.1974;ExAC_FIN=0.0091;ExAC_NFE=0.0288;ExAC_OTH=0.0751;ExAC_SAS=0.1238;CLNALLELEID=367529;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.16;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=-3.81;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-0.356;CADD_phred=0.492;DANN_score=0.932;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.811;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-0.45;phyloP7way_vertebrate=-0.946;phyloP20way_mammalian=-0.291;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=1.015;GDI_full_10282015=.;dpsi_max_tissue=-0.0756;dpsi_zscore=-0.369;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0724;gnomAD_exome_AFR=0.2133;gnomAD_exome_AMR=0.1073;gnomAD_exome_ASJ=0.0357;gnomAD_exome_EAS=0.1979;gnomAD_exome_FIN=0.0109;gnomAD_exome_NFE=0.0285;gnomAD_exome_OTH=0.0509;gnomAD_exome_SAS=0.1145;gnomAD_genome_ALL=0.0863;gnomAD_genome_AFR=0.2001;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.0135;gnomAD_genome_NFE=0.0276;gnomAD_genome_OTH=0.0460;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.T1525G:p.S509A,SCN10A:NM_006514:exon11:c.T1525G:p.S509A;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.452;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-3.72;FATHMM_pred=D;PROVEAN_score=0.3;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-2.180;CADD_phred=0.001;DANN_score=0.322;fathmm-MKL_coding_score=0.002;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.238;MetaSVM_pred=T;MetaLR_score=0.618;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-0.45;phyloP7way_vertebrate=-0.946;phyloP20way_mammalian=-0.291;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=1.015;GDI_full_10282015=.;dpsi_max_tissue=-0.2094;dpsi_zscore=-0.705;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-666.272,0,-698.934,.,.,.:876:423:399,.:11310,.:11703 . . 0/1:-725.327,0,-824.746,.,.,.:964:486:430,.:12233,.:13529 . . . 0/1:-613.286,0,-648.224,.,.,.:804:404:366,.:10515,.:11133 . . . . . . . . . . . . . 0/1:-469.808,0,-541.589,.,.,.:682:341:295,.:8487,.:9403 . . 0/1:-429.282,0,-499.915,.,.,.:638:311:287,.:7745,.:8752 . . . . . . . . . . . . 0/1:-573.327,0,-683.396,.,.,.:810:405:350,.:9870,.:11310 . . . . . . . . . . . . . . . . . . 0/1:-380.517,0,-429.782,.,.,.:538:268:236,.:6688,.:7411 . 0/1:-599.519,0,-686.492,.,.,.:775:395:333,.:9855,.:11129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-460.96,0,-711.339,.,.,.:599:342:239,.:7370,.:10248:342,239 . . . . . . . . . . . . . . 0/0:0,.,.,-135.163,.,-1371.92:601:557:.,33:.,504:16526:557,33 . . . . chr3 38793989 . G A 4704.99 . AB=0.460765;ABP=9.65579;AC=59;AF=0.5;AN=110;AO=229;CIGAR=1X;DP=29871;DPB=497;DPRA=0;EPP=111.574;EPPR=72.258;GTI=0;LEN=1;MEANALT=3;MQM=35.917;MQMR=35.7598;NS=1;NUMALT=1;ODDS=779.845;PAIRED=0.947598;PAIREDR=0.948819;PAO=0;PQA=0;PQR=0;PRO=0;QA=6196;QR=7767;RO=254;RPL=139;RPP=25.7776;RPPR=85.1159;RPR=90;RUN=1;SAF=84;SAP=38.2944;SAR=145;SF=0,1;SRF=98;SRP=31.7695;SRR=156;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.C1476T:p.L492L,SCN10A:NM_006514:exon11:c.C1476T:p.L492L;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2030;esp6500siv2_ea=0.2523;esp6500siv2_all=0.2030;esp6500siv2_ea=0.2523;1000g2015aug_all=0.207668;avsnp147=rs7617919;Kaviar_AF=0.229538;Kaviar_AC=35487;Kaviar_AN=154602;ExAC_ALL=0.2430;ExAC_AFR=0.1118;ExAC_AMR=0.1022;ExAC_EAS=0.4016;ExAC_FIN=0.2684;ExAC_NFE=0.2599;ExAC_OTH=0.2603;ExAC_SAS=0.2592;CLNALLELEID=251117;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2847;dpsi_zscore=-0.830;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2328;gnomAD_exome_AFR=0.1002;gnomAD_exome_AMR=0.1051;gnomAD_exome_ASJ=0.3329;gnomAD_exome_EAS=0.3907;gnomAD_exome_FIN=0.2613;gnomAD_exome_NFE=0.2507;gnomAD_exome_OTH=0.2344;gnomAD_exome_SAS=0.2314;gnomAD_genome_ALL=0.2179;gnomAD_genome_AFR=0.1063;gnomAD_genome_AMR=0.1184;gnomAD_genome_ASJ=0.2914;gnomAD_genome_EAS=0.4068;gnomAD_genome_FIN=0.2454;gnomAD_genome_NFE=0.2585;gnomAD_genome_OTH=0.2469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-362.617,0,-475.082:497:254:229:6196:7767 0/1:-544.198,0,-639.172:725:363:338:9425:10654 . . . 1/1:-1435.34,-174.574,0:709:12:662:18104:332 . . . . . . 0/1:-433.513,0,-558.326:611:303:284:7513:8869 . . 0/1:-728.536,0,-1001.24:1003:515:456:12424:15523 0/1:-296.679,0,-525.845:495:279:200:5577:8584 . 0/1:-488.217,0,-511.773:612:290:303:8199:8718 . . . 0/1:-283.838,0,-363.113:375:196:168:4885:5813 . . . 0/1:-375.966,0,-542.581:552:280:252:6634:8593 . . 0/1:-335.089,0,-346.778:402:202:193:5445:5901 0/1:-340.748,0,-458.165:471:249:206:5988:7296 0/1:-593.219,0,-744.977:793:403:373:10120:12132 1/1:-1356.86,-170.045,0:682:15:634:17101:377 . . . . . . 0/1:-309.053,0,-286.642:366:169:183:5056:5012 0/1:-585.536,0,-661.06:744:356:363:9676:10671 . . 0/1:-475.346,0,-504.486:574:271:281:7961:8148 0/1:-535.589,0,-630.076:698:339:340:9214:10263 . . . . . 0/1:-608.079,0,-513.415:687:301:359:9846:8978 0/1:-393.241,0,-560.936:590:308:262:7061:9259 0/1:-614.219,0,-742.834:787:392:372:10183:11684 . 0/1:-369.255,0,-323.14:448:191:245:6495:5792 0/1:-449.214,0,-417.751:511:233:268:7341:7073 0/1:-512.444,0,-646.899:709:351:334:9291:10526 . 0/1:-385.151,0,-457.298:505:246:240:6377:7342 . 0/1:-295.67,0,-209.336:327:138:180:4965:4029 . . . . 0/1:-483.918,0,-694.079:682:368:295:8293:10912 0/1:-248.28,0,-349.592:378:191:174:4424:5736 0/1:-425.576,0,-390.427:486:219:251:6965:6724 0/1:-293.636,0,-519.285:511:278:208:5493:8278 . . 0/1:-622.539,0,-687.208:768:366:368:10183:11075 . 0/1:-224.214,0,-257.493:364:174:174:4374:4747 0/1:-410.116,0,-448.455:505:243:247:6842:7409 0/1:-527.596,0,-704.319:779:395:352:9430:11607 0/1:-620.308,0,-469.691:685:286:371:10367:8509 0/1:-482.206,0,-640.531:680:347:311:8577:10557 . . 0/1:-475.986,0,-634.711:655:335:296:8066:10192 . 1/1:-1366.94,-166.334,0:659:12:615:17179:287 . . . 0/1:-259.895,0,-459.263:431:237:182:4890:7235 0/1:-475.582,0,-557.206:624:313:295:8096:9152 0/1:-306.056,0,-338.327:396:187:192:5152:5393 0/1:-496.714,0,-438.014:587:260:306:8320:7778 . 0/1:-360.11,0,-454.096:495:248:234:6226:7287 . 0/1:-555.774,0,-681.36:715:365:329:9339:11000 . . . 0/1:-372.46,0,-385.65:364:179:176:5589:5642:179,176 1/1:-1177.97,-117.774,0:481:11:460:14148:290:11,460 . 0/1:-353.653,0,-307.381:320:145:169:5254:4668:145,169 . . 0/1:-493.656,0,-417.765:445:202:237:7287:6424:202,237 0/1:-396.48,0,-356.205:366:172:191:5869:5390:172,191 . 0/1:-537.385,0,-321.816:418:162:246:7642:5195:162,246 0/1:-302.427,0,-332.245:319:156:157:4629:4944:156,157 . 0/1:-404.464,0,-418.675:390:198:188:5997:6229:198,188 0/1:-390.178,0,-427.791:400:204:190:5937:6340:204,190 . . 0/1:-389.246,0,-398.802:384:191:189:5846:5973:191,189 0/1:-375.941,0,-322.535:333:149:177:5522:4880:149,177 0/1:-388.535,0,-379.04:378:184:187:5863:5789:184,187 chr3 38798171 . C T 8980.12 . AB=0.489899;ABP=3.71219;AC=56;AF=0.5;AN=104;AO=388;CIGAR=1X;DP=49922;DPB=792;DPRA=0;EPP=17.0017;EPPR=3.06054;GTI=0;LEN=1;MEANALT=3;MQM=35.9021;MQMR=36.419;NS=1;NUMALT=1;ODDS=1434.63;PAIRED=0.979381;PAIREDR=0.948586;PAO=0;PQA=0;PQR=0;PRO=0;QA=11326;QR=11648;RO=389;RPL=99;RPP=205.047;RPPR=246.846;RPR=289;RUN=1;SAF=284;SAP=184.339;SAR=104;SF=0,1;SRF=267;SRP=120.376;SRR=122;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon9:c.G1284A:p.E428E,SCN10A:NM_001293307:exon9:c.G1284A:p.E428E,SCN10A:NM_006514:exon9:c.G1284A:p.E428E;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2024;esp6500siv2_ea=0.2509;esp6500siv2_all=0.2024;esp6500siv2_ea=0.2509;1000g2015aug_all=0.207468;avsnp147=rs62244070;Kaviar_AF=0.227681;Kaviar_AC=35200;Kaviar_AN=154602;ExAC_ALL=0.2344;ExAC_AFR=0.1052;ExAC_AMR=0.1011;ExAC_EAS=0.3974;ExAC_FIN=0.2622;ExAC_NFE=0.2542;ExAC_OTH=0.2456;ExAC_SAS=0.2319;CLNALLELEID=251118;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2108;dpsi_zscore=-0.708;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2305;gnomAD_exome_AFR=0.1000;gnomAD_exome_AMR=0.1050;gnomAD_exome_ASJ=0.3298;gnomAD_exome_EAS=0.3918;gnomAD_exome_FIN=0.2586;gnomAD_exome_NFE=0.2474;gnomAD_exome_OTH=0.2307;gnomAD_exome_SAS=0.2287;gnomAD_genome_ALL=0.2167;gnomAD_genome_AFR=0.1055;gnomAD_genome_AMR=0.1158;gnomAD_genome_ASJ=0.2914;gnomAD_genome_EAS=0.4045;gnomAD_genome_FIN=0.2448;gnomAD_genome_NFE=0.2567;gnomAD_genome_OTH=0.2469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-671.31,0,-699.671:792:389:388:11326:11648 0/1:-877.359,0,-1062.2:1098:554:518:15010:16962 . . . 1/1:-2682.28,-296.761,0:1155:16:1115:32735:506 . . . . . . 0/1:-705.501,0,-933.434:930:479:425:12159:14587 . . 0/1:-953.111,0,-1258.25:1211:641:538:15745:19621 0/1:-475.041,0,-741.155:721:387:317:8719:11877 . 0/1:-796.161,0,-900.573:933:474:438:13030:14306 . . . 0/1:-502.481,0,-482.778:574:255:305:8434:7924 . . . 0/1:-797.799,0,-934.572:951:488:447:13070:14628 . . 0/1:-608.215,0,-762.289:768:403:343:10109:11890 0/1:-843.008,0,-780.455:909:426:457:13275:12677 0/1:-1168.87,0,-1188.27:1282:628:627:18847:19239 1/1:-2249.56,-246.935,0:1002:20:958:27914:562 . . . . . . 0/1:-464.504,0,-487.414:544:261:269:7859:7766 0/1:-974.386,0,-918.552:1062:492:542:15947:15263 . . 0/1:-853.515,0,-812.768:923:431:470:13814:13206 0/1:-1104.3,0,-1422.35:1379:718:630:18191:21874 . . . . . 0/1:-1027.47,0,-1074.88:1155:560:564:16567:17125 0/1:-598.81,0,-854.151:833:440:370:10492:13311 0/1:-1010.69,0,-1097.76:1156:569:558:16371:17344 . 0/1:-485.59,0,-511.681:603:293:288:8153:8438 0/1:-622.488,0,-827.262:786:409:351:10118:12719 0/1:-971.613,0,-1079.85:1133:557:549:15667:16823 . 0/1:-591.595,0,-737.049:740:386:341:10017:11591 . 0/1:-457.895,0,-562.668:609:317:274:7768:9249 . . . . 0/1:-885.72,0,-1001.29:1062:527:504:14634:15796 0/1:-433.168,0,-453.535:509:248:249:7361:7350 0/1:-869.916,0,-911.916:990:485:490:14282:14932 0/1:-622.757,0,-801.483:807:424:365:10576:12898 . . 0/1:-1075.92,0,-1282.58:1273:648:604:17624:19917 . 0/1:-361.1,0,-514.896:596:322:256:6931:8587 . 0/1:-970.441,0,-1180.34:1239:640:561:16479:19120 0/1:-913.407,0,-873.387:1000:476:504:14624:14350 0/1:-911.317,0,-1026.67:1061:528:515:14983:16173 . . 0/1:-1027.36,0,-793.697:1070:460:575:16521:13543 . 1/1:-2495.61,-294.399,0:1108:14:1064:30825:389 . . . . 0/1:-782.883,0,-997.661:1025:532:463:13373:15917 0/1:-548.733,0,-394.174:524:225:290:8717:6757 0/1:-836.5,0,-792.767:905:430:457:13442:12967 . 0/1:-677.658,0,-775.227:803:404:374:11148:12284 . 0/1:-903.476,0,-1040.81:1084:550:516:15025:16739 . . . 0/1:-1139.81,0,-1095.14:1089:526:549:17165:16614:526,549 1/1:-3115.5,-292.598,0:1220:27:1176:37480:812:27,1176 . . . . 0/1:-1163.93,0,-1150.19:1137:551:567:17721:17293:551,567 0/1:-1032.66,0,-995.473:987:477:495:15412:15145:477,495 . 0/1:-1346.65,0,-1230.54:1237:583:640:20130:18449:583,640 0/1:-838.19,0,-792.565:788:372:401:12597:11932:372,401 . 0/1:-925.355,0,-1251.75:1039:555:468:14373:18184:555,468 0/1:-1148.11,0,-1114.83:1122:538:569:17466:17097:538,569 . . 0/1:-958.034,0,-1127.29:1008:520:473:14705:16551:520,473 0/1:-963.142,0,-990.416:925:465:450:14385:14755:465,450 0/1:-925.724,0,-1294.98:1065:590:467:14557:18929:590,467 chr3 38798632 . A G 10321.20 . AB=0.46055;ABP=17.7444;AC=1;AF=0.5;AN=2;AO=502;CIGAR=1X;DP=1090;DPB=1090;DPRA=0;EPP=3.16602;EPPR=18.4519;GTI=0;LEN=1;MEANALT=3;MQM=40.2032;MQMR=40.4219;NS=1;NUMALT=1;ODDS=2376.53;PAIRED=0.97012;PAIREDR=0.982639;PAO=0;PQA=0;PQR=0;PRO=0;QA=15960;QR=18514;RO=576;RPL=322;RPP=90.2326;RPPR=90.1105;RPR=180;RUN=1;SAF=242;SAP=4.41181;SAR=260;SF=1;SRF=288;SRP=3.0103;SRR=288;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon8:c.T969C:p.Y323Y,SCN10A:NM_001293307:exon8:c.T969C:p.Y323Y,SCN10A:NM_006514:exon8:c.T969C:p.Y323Y;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;1000g2015aug_all=.;avsnp147=rs143668889;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=8.669e-05;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=452310;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0945;dpsi_zscore=0.467;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.027e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1050.16,0,-1267.3:1090:576:502:15960:18514:576,502 . . . . . . . . . . . . . chr3 38802251 . A G 12768.38 . AB=0.466797;ABP=12.8159;AC=67;AF=0.5;AN=120;AO=478;CIGAR=1X;DP=75753;DPB=1024;DPRA=0;EPP=19.3645;EPPR=24.1016;GTI=0;LEN=1;MEANALT=3;MQM=38.2176;MQMR=38.0597;NS=1;NUMALT=1;ODDS=1956.15;PAIRED=0.956067;PAIREDR=0.936416;PAO=0;PQA=0;PQR=0;PRO=0;QA=13766;QR=15717;RO=519;RPL=257;RPP=8.89781;RPPR=5.62527;RPR=221;RUN=1;SAF=234;SAP=3.46458;SAR=244;SF=0,1;SRF=226;SRP=21.7921;SRR=293;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.3057;esp6500siv2_ea=0.2826;esp6500siv2_all=0.3057;esp6500siv2_ea=0.2826;1000g2015aug_all=0.388778;avsnp147=rs7641844;Kaviar_AF=0.321044;Kaviar_AC=49634;Kaviar_AN=154602;ExAC_ALL=0.3299;ExAC_AFR=0.3538;ExAC_AMR=0.2859;ExAC_EAS=0.6870;ExAC_FIN=0.2705;ExAC_NFE=0.2855;ExAC_OTH=0.3370;ExAC_SAS=0.3612;CLNALLELEID=251119;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1827;dpsi_zscore=-0.652;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3257;gnomAD_exome_AFR=0.3480;gnomAD_exome_AMR=0.2901;gnomAD_exome_ASJ=0.3731;gnomAD_exome_EAS=0.6872;gnomAD_exome_FIN=0.2691;gnomAD_exome_NFE=0.2779;gnomAD_exome_OTH=0.3043;gnomAD_exome_SAS=0.3528;gnomAD_genome_ALL=0.3219;gnomAD_genome_AFR=0.3411;gnomAD_genome_AMR=0.2971;gnomAD_genome_ASJ=0.3477;gnomAD_genome_EAS=0.7032;gnomAD_genome_FIN=0.2574;gnomAD_genome_NFE=0.2867;gnomAD_genome_OTH=0.3035;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-859.394,0,-1007.63:1024:519:478:13766:15717 0/1:-1278.63,0,-1543.37:1545:784:718:20588:23976 . . 0/1:-1168.86,0,-1304.6:1390:682:659:18798:20774 1/1:-3671.35,-426.968,0:1657:21:1574:44232:614 . 0/1:-1146.85,0,-1407.94:1428:717:658:18531:21874 . . . 0/1:-997.668,0,-1278.55:1252:642:575:16202:19488 0/1:-1010.01,0,-1245.6:1259:636:580:16589:19288 . . 0/1:-1554.99,0,-1552.29:1742:820:874:24430:24775 0/1:-663.928,0,-1155.8:1045:583:429:11671:17810 . 0/1:-1162.26,0,-1081.52:1214:558:605:17790:17013 . . . 0/1:-550.31,0,-624.233:701:338:338:9281:10093 . . 0/1:-759.909,0,-886.967:940:472:441:12639:13814 0/1:-1208.37,0,-1364.49:1395:699:663:19135:21394 . 0/1:-714.224,0,-853.771:933:469:431:12119:13745 0/1:-731.466,0,-970.253:935:478:422:11942:14587 0/1:-930.162,0,-1132.35:1142:580:525:14929:17487 0/1:-1173.34,0,-1774.82:1600:866:682:19477:26434 1/1:-3074.05,-330.263,0:1389:28:1299:37103:826 . . . . . . 0/1:-520.764,0,-605.508:631:315:298:8301:9600 0/1:-1176.33,0,-1691.84:1556:831:680:19602:25398 0/1:-967.102,0,-1224.91:1199:613:552:15900:18747 . 1/1:-2852.56,-319.908,0:1292:21:1213:34455:615 0/1:-1401.68,0,-1380.98:1547:719:783:22203:21713 . . . . . 1/1:-2948.59,-334.634,0:1291:17:1233:35421:501 0/1:-758.841,0,-1095.96:1115:592:484:13247:17349 0/1:-1206.68,0,-1537.04:1499:783:671:19403:23720 . 0/1:-735.75,0,-844.934:938:472:427:12088:13857 0/1:-850.913,0,-1055.6:1032:531:476:13602:16051 0/1:-1093.75,0,-1231.06:1296:651:601:17312:19456 . 0/1:-932.015,0,-715.848:938:399:509:14344:11861 . 1/1:-1603.85,-167.004,0:784:24:722:20280:685 . 0/1:-894.731,0,-1171.97:1142:587:509:14415:18020 . . 0/1:-1162.77,0,-1338.15:1348:663:638:18365:20629 0/1:-532.279,0,-615.68:680:332:326:8970:9796 0/1:-1108.96,0,-1311.85:1308:650:623:17710:20189 0/1:-897.886,0,-967.921:1019:501:486:14062:15105 . . 0/1:-1268.44,0,-1641.22:1601:831:720:20585:25127 . 0/1:-584.451,0,-656.626:802:381:378:10097:11080 . 0/1:-1326.6,0,-1351.43:1512:713:747:20962:21611 0/1:-1212.28,0,-1447.34:1424:708:674:19255:21825 0/1:-1116.96,0,-1425.46:1436:728:664:18500:21958 . . 0/1:-1242.17,0,-1265.05:1398:673:691:19628:20037 . 1/1:-3079.51,-362.216,0:1372:18:1304:37002:459 . . . . 0/1:-1253.07,0,-1350.77:1444:703:694:19698:21202 0/1:-688.27,0,-773.412:810:397:388:11126:12187 0/1:-931.752,0,-1111.48:1140:561:543:15083:17152 . 0/1:-876.773,0,-1234.8:1165:619:513:14577:18817 . 0/1:-1135.65,0,-1388.02:1410:718:642:18483:21586 . . 0/1:-1511.44,0,-1543.15:1490:737:729:22581:22985:737,729 0/1:-1522.68,0,-1495.02:1476:716:733:22498:22376:716,733 1/1:-3927.33,-385.124,0:1537:27:1483:46559:817:27,1483 . . . . 0/1:-1442.98,0,-1604.46:1510:771:712:21992:23707:771,712 0/1:-1336.42,0,-1589.49:1436:746:663:20502:23374:746,663 . 0/1:-1665.69,0,-1663.3:1629:811:791:24859:25046:811,791 0/1:-1320.55,0,-1059.32:1192:543:629:19330:16423:543,629 . 0/1:-1227.69,0,-1495.88:1344:709:615:18892:21963:709,615 0/1:-1153.12,0,-1708.54:1415:794:595:18292:24773:794,595 . . 0/1:-1245.21,0,-1490.19:1340:703:618:19001:21739:703,618 0/1:-1135.65,0,-1327.51:1219:627:565:17425:19566:627,565 0/1:-1559.82,0,-1375.4:1445:673:749:22979:20783:673,749 chr3 38805069 . T C 11401.53 . AB=0.450102;ABP=34.8659;AC=3;AF=0.5;AN=6;AO=663;CIGAR=1X;DP=4006;DPB=1473;DPRA=0;EPP=41.9232;EPPR=13.5763;GTI=0;LEN=1;MEANALT=3;MQM=38.546;MQMR=39.0304;NS=1;NUMALT=1;ODDS=2775.43;PAIRED=0.983409;PAIREDR=0.944304;PAO=0;PQA=0;PQR=0;PRO=0;QA=19589;QR=25254;RO=790;RPL=355;RPP=10.2453;RPPR=52.3659;RPR=308;RUN=1;SAF=326;SAP=3.4066;SAR=337;SF=0,1;SRF=366;SRP=12.2569;SRR=424;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon5:c.A618G:p.I206M,SCN10A:NM_001293307:exon5:c.A618G:p.I206M,SCN10A:NM_006514:exon5:c.A618G:p.I206M;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0116;esp6500siv2_ea=0.0159;esp6500siv2_all=0.0116;esp6500siv2_ea=0.0159;1000g2015aug_all=0.0419329;avsnp147=rs74717885;Kaviar_AF=0.0243852;Kaviar_AC=3770;Kaviar_AN=154602;ExAC_ALL=0.0256;ExAC_AFR=0.0024;ExAC_AMR=0.0065;ExAC_EAS=0.1489;ExAC_FIN=0.0070;ExAC_NFE=0.0156;ExAC_OTH=0.0352;ExAC_SAS=0.0364;CLNALLELEID=368585;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_pred=B;LRT_score=0.656;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.4;MutationAssessor_pred=N;FATHMM_score=-4.89;FATHMM_pred=D;PROVEAN_score=-1.81;PROVEAN_pred=N;VEST3_score=0.047;CADD_raw=1.807;CADD_phred=15.03;DANN_score=0.913;fathmm-MKL_coding_score=0.204;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.565;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=-0.839;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.274;phastCons20way_mammalian=0.917;SiPhy_29way_logOdds=1.478;GDI_full_10282015=.;dpsi_max_tissue=1.4429;dpsi_zscore=1.754;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM147566#"Brugada_syndrome";gnomAD_exome_ALL=0.0252;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0229;gnomAD_exome_EAS=0.1514;gnomAD_exome_FIN=0.0067;gnomAD_exome_NFE=0.0156;gnomAD_exome_OTH=0.0153;gnomAD_exome_SAS=0.0358;gnomAD_genome_ALL=0.0179;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.1554;gnomAD_genome_FIN=0.0086;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-1220.64,0,-1691.68:1473:790:663:19589:25254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1076.21,0,-1325.01:1219:640:564:16925:19895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1198.4,0,-1604.99:1314:715:582:18321:23212:715,582 . . . . . . . . . . . . . . . . . . chr3 38805130 . C G 9821.16 . AB=0.520522;ABP=6.93191;AC=18;AF=0.5;AN=34;AO=558;CIGAR=1X;DP=17442;DPB=1072;DPRA=0;EPP=4.27115;EPPR=11.1876;GTI=0;LEN=1;MEANALT=3;MQM=38.4068;MQMR=39.055;NS=1;NUMALT=1;ODDS=2273.09;PAIRED=0.964158;PAIREDR=0.942974;PAO=0;PQA=0;PQR=0;PRO=0;QA=16599;QR=15595;RO=491;RPL=315;RPP=23.184;RPPR=24.0661;RPR=243;RUN=1;SAF=179;SAP=158.671;SAR=379;SF=0,1;SRF=185;SRP=67.7609;SRR=306;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0993;esp6500siv2_ea=0.0463;esp6500siv2_all=0.0993;esp6500siv2_ea=0.0463;1000g2015aug_all=0.11901;avsnp147=rs73826327;Kaviar_AF=0.0664222;Kaviar_AC=10269;Kaviar_AN=154602;ExAC_ALL=0.0697;ExAC_AFR=0.2045;ExAC_AMR=0.0291;ExAC_EAS=0.1502;ExAC_FIN=0.0362;ExAC_NFE=0.0471;ExAC_OTH=0.0808;ExAC_SAS=0.0752;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0335;dpsi_zscore=0.217;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0657;gnomAD_exome_AFR=0.2002;gnomAD_exome_AMR=0.0313;gnomAD_exome_ASJ=0.0734;gnomAD_exome_EAS=0.1516;gnomAD_exome_FIN=0.0465;gnomAD_exome_NFE=0.0457;gnomAD_exome_OTH=0.0549;gnomAD_exome_SAS=0.0730;gnomAD_genome_ALL=0.0954;gnomAD_genome_AFR=0.1931;gnomAD_genome_AMR=0.0371;gnomAD_genome_ASJ=0.0867;gnomAD_genome_EAS=0.1545;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0483;gnomAD_genome_OTH=0.0603;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-1078.22,0,-1005.51:1072:491:558:16599:15595 . . 1/1:-2746.46,-255.752,0:1196:43:1131:33615:1228 0/1:-854.703,0,-979.813:953:481:449:13552:15060 . . 0/1:-831.433,0,-1112.11:980:525:440:13105:16635 . . . . . . . . . . . . . . . . . . 0/1:-771.9,0,-968.953:916:476:417:12323:14704 . 0/1:-1121.01,0,-1269.42:1260:631:601:17829:19562 . . . . . . . . 0/1:-813.233,0,-1022.56:953:503:433:12921:15534 . 0/1:-946.05,0,-1154.5:1052:558:484:14770:17405 . . . . 0/1:-677.518,0,-917.299:837:442:376:10791:13700 . 0/1:-1217.47,0,-1177:1228:581:630:18590:18121 . . . . . . . . 0/1:-985.203,0,-1146.87:1096:541:537:15510:17311 0/1:-566.509,0,-664.141:677:333:323:9089:10437 . 0/1:-878.745,0,-1071.54:988:508:462:13903:16072 . . . . . . . . . . . . . . . . . 0/1:-975.804,0,-1226.24:1137:597:525:15681:18647 . . . . . . . . . . . . . 0/1:-990.47,0,-1185.44:1150:580:547:15979:17935 . 0/1:-807.848,0,-1246.82:960:548:398:12565:17698:548,398 0/1:-977.367,0,-1111.54:987:514:460:14573:16385:514,460 . . . . . . . . . . . . . . . . . . chr3 38835348 . G A 12639.00 . AB=0.482733;ABP=6.45988;AC=1;AF=0.5;AN=2;AO=643;CIGAR=1X;DP=1332;DPB=1332;DPRA=0;EPP=70.1503;EPPR=25.3043;GTI=0;LEN=1;MEANALT=3;MQM=40.2877;MQMR=40.2772;NS=1;NUMALT=1;ODDS=2910.23;PAIRED=0.986003;PAIREDR=0.965723;PAO=0;PQA=0;PQR=0;PRO=0;QA=19548;QR=20797;RO=671;RPL=316;RPP=3.41893;RPPR=14.2754;RPR=327;RUN=1;SAF=443;SAP=202.424;SAR=200;SF=1;SRF=462;SRP=210.155;SRR=209;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon1:c.C154T:p.R52W,SCN10A:NM_001293307:exon1:c.C154T:p.R52W,SCN10A:NM_006514:exon1:c.C154T:p.R52W;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs754234000;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.472e-05;ExAC_AFR=9.61e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.673;MutationTaster_pred=D;MutationAssessor_score=2.545;MutationAssessor_pred=M;FATHMM_score=-3.9;FATHMM_pred=D;PROVEAN_score=-5.24;PROVEAN_pred=D;VEST3_score=0.388;CADD_raw=5.592;CADD_phred=26.5;DANN_score=0.999;fathmm-MKL_coding_score=0.554;fathmm-MKL_coding_pred=D;MetaSVM_score=1.139;MetaSVM_pred=D;MetaLR_score=0.911;MetaLR_pred=D;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=3.09;phyloP7way_vertebrate=-0.683;phyloP20way_mammalian=0.079;phastCons7way_vertebrate=0.128;phastCons20way_mammalian=0.264;SiPhy_29way_logOdds=12.786;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.22e-05;gnomAD_exome_AFR=6.536e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.973e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1299.4,0,-1396.14:1332:671:643:19548:20797:671,643 . . . . . . chr3 38835509 . T A 6081.92 . AB=0.470817;ABP=8.71358;AC=1;AF=0.5;AN=2;AO=363;CIGAR=1X;DP=771;DPB=771;DPRA=0;EPP=3.73412;EPPR=3.36483;GTI=0;LEN=1;MEANALT=3;MQM=36.5565;MQMR=35.9949;NS=1;NUMALT=1;ODDS=1400.41;PAIRED=0.980716;PAIREDR=0.969388;PAO=0;PQA=0;PQR=0;PRO=0;QA=10832;QR=11884;RO=392;RPL=258;RPP=143.043;RPPR=190.555;RPR=105;RUN=1;SAF=71;SAP=295.178;SAR=292;SF=0;SRF=88;SRP=261.46;SRR=304;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=upstream;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000599042;avsnp147=rs200901459;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0014;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=367226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0021;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0035;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-661.845,0,-719.167:771:392:363:10832:11884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 46899855 . C T 11834.70 . AB=0.504599;ABP=3.28994;AC=1;AF=0.5;AN=2;AO=768;CIGAR=1X;DP=1522;DPB=1522;DPRA=0;EPP=12.5218;EPPR=27.452;GTI=0;LEN=1;MEANALT=3;MQM=34.737;MQMR=34.859;NS=1;NUMALT=1;ODDS=2690.19;PAIRED=0.921875;PAIREDR=0.899709;PAO=0;PQA=0;PQR=0;PRO=0;QA=20410;QR=20610;RO=688;RPL=379;RPP=3.29304;RPPR=4.53791;RPR=389;RUN=1;SAF=318;SAP=52.2756;SAR=450;SF=0;SRF=295;SRP=33.3225;SRR=393;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p21.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00139776;avsnp147=rs552393482;Kaviar_AF=0.0005498;Kaviar_AC=85;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=9.617e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0.0032;CLNALLELEID=142104;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2826;dpsi_zscore=0.865;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=9.698e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1198.65,0,-1183.16:1522:688:768:20410:20610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 46899881 . G A 14957.10 . AB=0.467532;ABP=24.161;AC=1;AF=0.5;AN=2;AO=1080;CIGAR=1X;DP=2310;DPB=2310;DPRA=0;EPP=138.928;EPPR=71.3514;GTI=0;LEN=1;MEANALT=3;MQM=32.5713;MQMR=34.5709;NS=1;NUMALT=1;ODDS=3444;PAIRED=0.911111;PAIREDR=0.886344;PAO=0;PQA=0;PQR=0;PRO=0;QA=29115;QR=33872;RO=1135;RPL=459;RPP=55.7771;RPPR=68.4893;RPR=621;RUN=1;SAF=419;SAP=120.76;SAR=661;SF=0;SRF=460;SRP=91.4476;SRR=675;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYL3:NM_000258:exon5:c.C552T:p.N184N;cytoBand=3p21.31;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs140829951;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4798;dpsi_zscore=-1.072;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.235e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-1535.49,0,-1972.78:2310:1135:1080:29115:33872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 46899968 . G A 5378.88 . AB=0.393911;ABP=108.98;AC=1;AF=0.5;AN=2;AO=427;CIGAR=1X;DP=1084;DPB=1084;DPRA=0;EPP=90.2811;EPPR=18.316;GTI=0;LEN=1;MEANALT=3;MQM=32.6604;MQMR=34.1877;NS=1;NUMALT=1;ODDS=1238.53;PAIRED=0.925059;PAIREDR=0.899676;PAO=0;PQA=0;PQR=0;PRO=0;QA=12973;QR=19733;RO=618;RPL=359;RPP=433.648;RPPR=559.596;RPR=68;RUN=1;SAF=80;SAP=365.544;SAR=347;SF=0;SRF=166;SRP=290.418;SRR=452;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p21.31;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=.;avsnp147=rs201289145;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=9.722e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=6.082e-05;CLNALLELEID=142103;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2038;dpsi_zscore=0.730;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.549e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-648.283,0,-1187.76:1084:618:427:12973:19733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 46902491 . C A 9297.75 . AB=0.470588;ABP=13.229;AC=2;AF=0.5;AN=4;AO=640;CIGAR=1X;DP=2570;DPB=1360;DPRA=0;EPP=5.67035;EPPR=51.3995;GTI=0;LEN=1;MEANALT=3;MQM=31.4859;MQMR=30.8188;NS=1;NUMALT=1;ODDS=2071.5;PAIRED=0.920312;PAIREDR=0.895652;PAO=0;PQA=0;PQR=0;PRO=0;QA=17374;QR=19995;RO=690;RPL=322;RPP=3.06459;RPPR=11.52;RPR=318;RUN=1;SAF=290;SAP=15.2248;SAR=350;SF=0,1;SRF=338;SRP=3.62712;SRR=352;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p21.31;genomicSuperDups=.;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0037;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0037;1000g2015aug_all=0.000998403;avsnp147=rs192329378;Kaviar_AF=0.0015782;Kaviar_AC=244;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0.0005;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0020;ExAC_OTH=0.0011;ExAC_SAS=0.0018;CLNALLELEID=52289;CLNDN=Familial_hypertrophic_cardiomyopathy_8|not_specified;CLNDISDB=MedGen:C1837471,OMIM:608751|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1450;dpsi_zscore=-0.570;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-909.705,0,-1057.51:1360:690:640:17374:19995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1090.99,0,-1185.24:1210:610:592:17612:18748:610,592 . chr3 52485794 . C T 5428.63 . AB=0.393939;ABP=112.637;AC=1;AF=0.5;AN=2;AO=442;CIGAR=1X;DP=1122;DPB=1122;DPRA=0;EPP=54.1234;EPPR=145.728;GTI=0;LEN=1;MEANALT=3;MQM=31.724;MQMR=32.2026;NS=1;NUMALT=1;ODDS=1249.99;PAIRED=0.923077;PAIREDR=0.92504;PAO=0;PQA=0;PQR=0;PRO=0;QA=11690;QR=18068;RO=627;RPL=168;RPP=58.2109;RPPR=66.1285;RPR=274;RUN=1;SAF=244;SAP=13.4059;SAR=198;SF=0;SRF=308;SRP=3.42936;SRR=319;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNC1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNC1:NM_003280:exon4:c.G283A:p.E95K;cytoBand=3p21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.49;MutationAssessor_pred=L;FATHMM_score=-3.82;FATHMM_pred=D;PROVEAN_score=-2.92;PROVEAN_pred=D;VEST3_score=0.881;CADD_raw=4.669;CADD_phred=24.5;DANN_score=0.999;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_pred=D;MetaSVM_score=0.445;MetaSVM_pred=D;MetaLR_score=0.804;MetaLR_pred=D;integrated_fitCons_score=0.657;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.925;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.564;GDI_full_10282015=.;dpsi_max_tissue=0.0747;dpsi_zscore=0.399;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-569.466,0,-1032.06:1122:627:442:11690:18068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 52485839 . T A 11152.00 . AB=0.471357;ABP=14.4545;AC=1;AF=0.5;AN=2;AO=757;CIGAR=1X;DP=1606;DPB=1606;DPRA=0;EPP=86.8888;EPPR=106.834;GTI=0;LEN=1;MEANALT=3;MQM=34.7503;MQMR=35.578;NS=1;NUMALT=1;ODDS=2567.85;PAIRED=0.927345;PAIREDR=0.916121;PAO=0;PQA=0;PQR=0;PRO=0;QA=19934;QR=20879;RO=763;RPL=496;RPP=161.425;RPPR=160.179;RPR=261;RUN=1;SAF=389;SAP=4.27532;SAR=368;SF=0;SRF=357;SRP=9.84347;SRR=406;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNC1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNC1:NM_003280:exon4:c.A238T:p.M80L;cytoBand=3p21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.179;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.62;MutationAssessor_pred=N;FATHMM_score=-0.92;FATHMM_pred=T;PROVEAN_score=-2.26;PROVEAN_pred=N;VEST3_score=0.889;CADD_raw=2.734;CADD_phred=21.0;DANN_score=0.968;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.858;MetaSVM_pred=T;MetaLR_score=0.149;MetaLR_pred=T;integrated_fitCons_score=0.758;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.743;GDI_full_10282015=.;dpsi_max_tissue=-0.0475;dpsi_zscore=-0.254;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-1148.17,0,-1209.49:1606:763:757:19934:20879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 52486112 . G C 2138.83 . AB=0.452247;ABP=10.0615;AC=1;AF=0.5;AN=2;AO=161;CIGAR=1X;DP=356;DPB=356;DPRA=0;EPP=23.5246;EPPR=10.8184;GTI=0;LEN=1;MEANALT=3;MQM=29.2919;MQMR=31.3883;NS=1;NUMALT=1;ODDS=492.483;PAIRED=0.962733;PAIREDR=0.984043;PAO=0;PQA=0;PQR=0;PRO=0;QA=4660;QR=5584;RO=188;RPL=70;RPP=8.95825;RPPR=4.16534;RPR=91;RUN=1;SAF=86;SAP=4.64228;SAR=75;SF=0;SRF=110;SRP=14.8379;SRR=78;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1248;dpsi_zscore=-1.542;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-224.126,0,-295.023:356:188:161:4660:5584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 57817096 . GTTTTTTTTTG GTTTTTTTTTTG 994.34 . AB=0.279446;ABP=185.961;AC=3;AF=0.5;AN=6;AO=121;CIGAR=1M1I10M;DP=1170;DPB=489.364;DPRA=0;EPP=8.19671;EPPR=15.7926;GTI=0;LEN=1;MEANALT=49;MQM=39.3471;MQMR=40.4541;NS=1;NUMALT=1;ODDS=257.313;PAIRED=1;PAIREDR=0.994595;PAO=41.5;PQA=936.5;PQR=936.5;PRO=41.5;QA=3021;QR=5632;RO=185;RPL=47;RPP=16.093;RPPR=7.24761;RPR=74;RUN=1;SAF=71;SAP=10.9245;SAR=50;SF=0;SRF=89;SRP=3.58545;SRR=96;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.0178;esp6500siv2_ea=0.0146;esp6500siv2_all=0.0178;esp6500siv2_ea=0.0146;1000g2015aug_all=0.0109824;avsnp147=rs199960887;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;ExAC_ALL=0.0147;ExAC_AFR=0.0192;ExAC_AMR=0.0476;ExAC_EAS=0.0037;ExAC_FIN=0.0121;ExAC_NFE=0.0110;ExAC_OTH=0.0145;ExAC_SAS=0.0087;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0102;gnomAD_exome_AFR=0.0157;gnomAD_exome_AMR=0.0353;gnomAD_exome_ASJ=0.0161;gnomAD_exome_EAS=0.0029;gnomAD_exome_FIN=0.0124;gnomAD_exome_NFE=0.0064;gnomAD_exome_OTH=0.0135;gnomAD_exome_SAS=0.0032;gnomAD_genome_ALL=0.0061;gnomAD_genome_AFR=0.0084;gnomAD_genome_AMR=0.0241;gnomAD_genome_ASJ=0.01;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0096;gnomAD_genome_NFE=0.0035;gnomAD_genome_OTH=0.0098;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-123.345,0,-348.243:433:185:121:3021:5632 . . . . . . . . . . . . . . . . . . . . . . 0/1:-169.728,0,-326.917:396:171:130:3460:5250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-43.7611,0,-341.992:341:172:84:1836:5225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 57835502 . A G 7832.81 . AB=0.51776;ABP=5.01565;AC=1;AF=0.5;AN=2;AO=379;CIGAR=1X;DP=732;DPB=732;DPRA=0;EPP=123.473;EPPR=50.9283;GTI=0;LEN=1;MEANALT=3;MQM=40.591;MQMR=40.586;NS=1;NUMALT=1;ODDS=1649.31;PAIRED=0.968338;PAIREDR=0.979592;PAO=0;PQA=0;PQR=0;PRO=0;QA=11818;QR=11017;RO=343;RPL=169;RPP=12.6416;RPPR=50.9283;RPR=210;RUN=1;SAF=187;SAP=3.15354;SAR=192;SF=0;SRF=167;SRP=3.5231;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLMAP:NM_001304420:exon5:c.A478G:p.M160V,SLMAP:NM_001304421:exon5:c.A478G:p.M160V,SLMAP:NM_007159:exon5:c.A478G:p.M160V;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.357;SIFT_pred=T;Polyphen2_HDIV_score=0.179;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.259;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.85;MutationAssessor_pred=N;FATHMM_score=1.72;FATHMM_pred=T;PROVEAN_score=-0.34;PROVEAN_pred=N;VEST3_score=0.879;CADD_raw=1.283;CADD_phred=12.18;DANN_score=0.926;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.193;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.636;GDI_full_10282015=.;dpsi_max_tissue=-4.7577;dpsi_zscore=-2.465;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.066e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.967e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-804.662,0,-734.01:732:343:379:11818:11017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 57835519 . A G 8263.97 . AB=0.501119;ABP=3.02002;AC=2;AF=0.5;AN=4;AO=448;CIGAR=1X;DP=1635;DPB=894;DPRA=0;EPP=57.4716;EPPR=32.7439;GTI=0;LEN=1;MEANALT=3;MQM=40.125;MQMR=40.0785;NS=1;NUMALT=1;ODDS=2034.32;PAIRED=0.970982;PAIREDR=0.965358;PAO=0;PQA=0;PQR=0;PRO=0;QA=13906;QR=13943;RO=433;RPL=118;RPP=220.856;RPPR=201.607;RPR=330;RUN=1;SAF=263;SAP=32.4997;SAR=185;SF=0;SRF=252;SRP=28.2907;SRR=181;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304420:exon5:c.A495G:p.L165L,SLMAP:NM_001304421:exon5:c.A495G:p.L165L,SLMAP:NM_007159:exon5:c.A495G:p.L165L;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0036;1000g2015aug_all=0.000798722;avsnp147=rs149758819;Kaviar_AF=0.0025097;Kaviar_AC=388;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0011;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0092;ExAC_NFE=0.0036;ExAC_OTH=0.0055;ExAC_SAS=0.0002;CLNALLELEID=239290;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6985;dpsi_zscore=-1.797;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0029;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0048;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0103;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-937.004,0,-917.459:894:433:448:13906:13943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-777.682,0,-732.927:741:343:387:11565:11030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 57846576 . TCA TAA 2741.88 . AB=0.376;ABP=86.4817;AC=2;AF=0.5;AN=4;AO=235;CIGAR=1M1X1M;DP=954;DPB=625.333;DPRA=0;EPP=33.0321;EPPR=25.8978;GTI=0;LEN=1;MEANALT=14;MQM=36.4766;MQMR=40.1045;NS=1;NUMALT=1;ODDS=811.492;PAIRED=0.893617;PAIREDR=0.944251;PAO=0;PQA=0;PQR=0;PRO=0;QA=6160;QR=8710;RO=287;RPL=165;RPP=86.4041;RPPR=43.3301;RPR=70;RUN=1;SAF=108;SAP=6.34605;SAR=127;SF=1;SRF=128;SRP=10.2813;SRR=159;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1615;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1615;1000g2015aug_all=0.228634;avsnp147=rs2306056;Kaviar_AF=0.0131305;Kaviar_AC=2030;Kaviar_AN=154602;ExAC_ALL=0.2487;ExAC_AFR=0.2133;ExAC_AMR=0.3799;ExAC_EAS=0.4450;ExAC_FIN=0.1880;ExAC_NFE=0.2301;ExAC_OTH=0.2208;ExAC_SAS=0.1598;CLNALLELEID=251243;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1062;dpsi_zscore=-0.468;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2585;gnomAD_exome_AFR=0.2282;gnomAD_exome_AMR=0.3667;gnomAD_exome_ASJ=0.2264;gnomAD_exome_EAS=0.4495;gnomAD_exome_FIN=0.1939;gnomAD_exome_NFE=0.2452;gnomAD_exome_OTH=0.2435;gnomAD_exome_SAS=0.1817;gnomAD_genome_ALL=0.2179;gnomAD_genome_AFR=0.1895;gnomAD_genome_AMR=0.3218;gnomAD_genome_ASJ=0.1716;gnomAD_genome_EAS=0.4717;gnomAD_genome_FIN=0.2210;gnomAD_genome_NFE=0.2002;gnomAD_genome_OTH=0.2185;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-372.756,0,-597.269:625:287:235:6160:8710:287,235 . 0/1:-208.165,0,-313.533:329:142:124:3322:4528:142,124 . . . . . . . . . . . . . . . . chr3 57846577 . CAAAAAAAAAATACTAAATAG AAAAAAAAAAATACTAAATAG,CAAAAAAAAATACTAAATAG 4506.02 . AB=0.482372;ABP=4.69458;AC=41,0;AF=0.5;AN=104;AO=301;CIGAR=1X;DP=31209;DPB=624;DPRA=0;EPP=65.4059;EPPR=28.4994;GTI=0;LEN=1;MEANALT=2;MQM=36.0897;MQMR=39.5962;NS=1;NUMALT=1;ODDS=1002.05;PAIRED=0.940199;PAIREDR=0.933754;PAO=0;PQA=0;PQR=0;PRO=0;QA=7973;QR=9101;RO=317;RPL=181;RPP=29.8543;RPPR=62.2566;RPR=120;RUN=1;SAF=107;SAP=57.6145;SAR=194;SF=0,1;SRF=119;SRP=45.7616;SRR=198;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1615;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1615;1000g2015aug_all=0.228634;avsnp147=rs2306056;Kaviar_AF=0.0131305;Kaviar_AC=2030;Kaviar_AN=154602;ExAC_ALL=0.2487;ExAC_AFR=0.2133;ExAC_AMR=0.3799;ExAC_EAS=0.4450;ExAC_FIN=0.1880;ExAC_NFE=0.2301;ExAC_OTH=0.2208;ExAC_SAS=0.1598;CLNALLELEID=251243;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1062;dpsi_zscore=-0.468;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2585;gnomAD_exome_AFR=0.2282;gnomAD_exome_AMR=0.3667;gnomAD_exome_ASJ=0.2264;gnomAD_exome_EAS=0.4495;gnomAD_exome_FIN=0.1939;gnomAD_exome_NFE=0.2452;gnomAD_exome_OTH=0.2435;gnomAD_exome_SAS=0.1817;gnomAD_genome_ALL=0.2179;gnomAD_genome_AFR=0.1895;gnomAD_genome_AMR=0.3218;gnomAD_genome_ASJ=0.1716;gnomAD_genome_EAS=0.4717;gnomAD_genome_FIN=0.2210;gnomAD_genome_NFE=0.2002;gnomAD_genome_OTH=0.2185;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs760021345;Kaviar_AF=0.154875;Kaviar_AC=23944;Kaviar_AN=154602;ExAC_ALL=0.0454;ExAC_AFR=0.0410;ExAC_AMR=0.0313;ExAC_EAS=0.0178;ExAC_FIN=0.0248;ExAC_NFE=0.0496;ExAC_OTH=0.0442;ExAC_SAS=0.0670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0128;gnomAD_exome_AFR=0.0232;gnomAD_exome_AMR=0.0182;gnomAD_exome_ASJ=0.0179;gnomAD_exome_EAS=0.0098;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0120;gnomAD_exome_SAS=0.0150;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0039;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0012;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:.,.,-598.887,.,.,.:624:317:301,.:7973,.:9101 0/1:.,.,-413.651,.,.,.:431:219:204,.:5420,.:6424 1/1:.,.,0,.,.,.:554:16:533,.:14234,.:467 1/1:.,.,0,.,.,.:599:21:571,.:15587,.:607 1/1:.,.,0,.,.,.:501:9:486,.:13392,.:230 . . 0/1:.,.,-690.848,.,.,.:674:355:309,.:8342,.:10576 . . . 0/1:.,.,-519.669,.,.,.:514:268:239,.:6415,.:7793 . . . . . 0/1:.,.,-390.788,.,.,.:416:207:199,.:5330,.:6067 . 0/1:.,.,-772.954,.,.,.:776:401:366,.:10086,.:12051 0/1:.,.,-372.491,.,.,.:426:201:220,.:6118,.:5856 0/1:.,.,-512.44,.,.,.:593:283:305,.:8189,.:8257 0/1:.,.,-706.207,.,.,.:694:373:310,.:7996,.:10639 . 0/1:.,.,-483.897,.,.,.:527:254:270,.:7200,.:7533 . . . . 0/1:.,.,-754.182,.,.,.:788:399:376,.:10354,.:11579 . . 0/1:.,.,-649.821,.,.,.:609:328:273,.:7783,.:9735 . . . . 0/1:.,.,-409.293,.,.,.:401:212:185,.:4849,.:6212 . . . 1/1:.,.,0,.,.,.:639:12:622,.:16644,.:330 0/1:.,.,-783.956,.,.,.:781:411:365,.:9914,.:11902 0/1:.,.,-559.729,.,.,.:630:292:334,.:9182,.:8653 . . . 0/1:.,.,-622.24,.,.,.:631:326:297,.:8088,.:9486 . 1/1:.,.,0,.,.,.:554:11:532,.:14225,.:280 0/1:.,.,-644.935,.,.,.:729:353:365,.:9987,.:10214 . 0/1:.,.,-613.918,.,.,.:579:310:262,.:6638,.:9156 . . . 0/1:.,.,-495.552,.,.,.:505:249:248,.:6782,.:7520 0/1:.,.,-576.664,.,.,.:511:288:220,.:5775,.:8461 0/1:.,.,-376.695,.,.,.:447:218:222,.:5990,.:6147 . . . . . . . . 0/1:.,.,-542.402,.,.,.:637:305:323,.:8667,.:8833 0/1:.,.,-489.126,.,.,.:507:257:243,.:6626,.:7508 0/1:.,.,-752.606,.,.,.:700:383:306,.:8477,.:11415 . . . . . . . 0/1:.,.,-535.874,.,.,.:515:279:228,.:6139,.:8098 . . . . . . . . 0/1:.,.,-264.49,.,.,.:371:151:215,.:5818,.:4397 0/1:.,.,-667.774,.,.,.:654:346:299,.:7946,.:10137 . . . 0/1:.,.,-666.775,.,.,.:602:348:246,.:6541,.:10021 0/1:.,.,-586.721,.,.,.:652:317:326,.:8709,.:9222 . 0/0:0,.,.,-21.5769,.,-999.446:566:400:.,45:.,1306:12835:400,45 . 0/1:.,.,-739.456,.,.,.:693:356:331,.:9465,.:10942:356,331 . 0/1:.,.,-529.132,.,.,.:505:261:240,.:6955,.:7954:261,240 0/0:0,.,.,-30.2153,.,-1429.59:819:573:.,66:.,1863:18323:573,66 0/0:0,.,.,-72.266,.,-1304.27:669:502:.,36:.,1028:16008:502,36 0/0:0,.,.,-49.3528,.,-1243.53:683:489:.,47:.,1332:15613:489,47 0/0:0,.,.,-34.5768,.,-1183.75:633:472:.,49:.,1398:15093:472,49 0/0:0,.,.,-36.2898,.,-1053.89:590:416:.,42:.,1165:13318:416,42 0/0:0,.,.,-49.7072,.,-1514.99:806:603:.,58:.,1709:19247:603,58 0/0:0,.,.,-48.1738,.,-973.944:520:378:.,33:.,864:12071:378,33 0/0:0,.,.,-34.2401,.,-973.457:558:387:.,38:.,1077:12315:387,38 0/0:0,.,.,-40.3944,.,-1177.78:648:462:.,44:.,1293:14797:462,44 0/0:0,.,.,-42.7559,.,-1108:605:442:.,45:.,1197:14090:442,45 0/0:0,.,.,-36.0122,.,-1188.8:656:473:.,49:.,1413:15061:473,49 0/0:0,.,.,-54.099,.,-1356.55:736:532:.,51:.,1423:16955:532,51 0/0:0,.,.,-60.5692,.,-1164.65:620:457:.,34:.,1011:14513:457,34 0/0:0,.,.,-38.9798,.,-1234.52:654:482:.,49:.,1375:15460:482,49 0/0:0,.,.,-41.8911,.,-862.144:477:334:.,29:.,781:10587:334,29 chr3 57850310 . G A 4354.19 . AB=0.492205;ABP=3.24728;AC=1;AF=0.5;AN=2;AO=221;CIGAR=1X;DP=449;DPB=449;DPRA=0;EPP=42.0084;EPPR=33.2808;GTI=0;LEN=1;MEANALT=3;MQM=39.2534;MQMR=40.4608;NS=1;NUMALT=1;ODDS=1002.59;PAIRED=0.923077;PAIREDR=0.940092;PAO=0;PQA=0;PQR=0;PRO=0;QA=6846;QR=6708;RO=217;RPL=120;RPP=6.55737;RPPR=11.426;RPR=101;RUN=1;SAF=123;SAP=9.15134;SAR=98;SF=1;SRF=122;SRP=10.3052;SRR=95;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304420:exon10:c.G1002A:p.K334K,SLMAP:NM_001304421:exon10:c.G1002A:p.K334K,SLMAP:NM_007159:exon10:c.G1002A:p.K334K;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs139110404;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1587;dpsi_zscore=0.636;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-447.56,0,-447.991:449:217:221:6846:6708:217,221 . . . . . . . . . . . . . . . . . . chr3 57850505 . CTTTTTTTTTTTTGGAC CTTTTTTTTTTTGGAC,CTTTTTTTTTTTTTGGAC,CTTTTTTTTTTTTGGAA 86.77 . AB=0.125926;ABP=331.176;AC=15,1,0;AF=0.5;AN=40;AO=34;CIGAR=1M1D15M;DP=7390;DPB=268.765;DPRA=0;EPP=9.39698;EPPR=3.30981;GTI=0;LEN=1;MEANALT=54;MQM=38.3529;MQMR=39.9397;NS=1;NUMALT=1;ODDS=10.7436;PAIRED=0.823529;PAIREDR=0.896552;PAO=0.833333;PQA=17.1667;PQR=17.1667;PRO=0.833333;QA=776;QR=3622;RO=116;RPL=19;RPP=4.03217;RPPR=9.07545;RPR=15;RUN=1;SAF=17;SAP=3.0103;SAR=17;SF=1;SRF=49;SRP=9.07545;SRR=67;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs758312747;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.2799;ExAC_AFR=0.2390;ExAC_AMR=0.3017;ExAC_EAS=0.2466;ExAC_FIN=0.1687;ExAC_NFE=0.2750;ExAC_OTH=0.2736;ExAC_SAS=0.3517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2517;gnomAD_exome_AFR=0.2138;gnomAD_exome_AMR=0.2933;gnomAD_exome_ASJ=0.3181;gnomAD_exome_EAS=0.2429;gnomAD_exome_FIN=0.1339;gnomAD_exome_NFE=0.2514;gnomAD_exome_OTH=0.2537;gnomAD_exome_SAS=0.3106;gnomAD_genome_ALL=0.0073;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0139;gnomAD_genome_ASJ=0.0122;gnomAD_genome_EAS=0.0191;gnomAD_genome_FIN=0.0465;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0154;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs549408176;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;ExAC_ALL=0.0890;ExAC_AFR=0.0985;ExAC_AMR=0.1036;ExAC_EAS=0.1282;ExAC_FIN=0.0533;ExAC_NFE=0.0824;ExAC_OTH=0.0906;ExAC_SAS=0.0924;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0801;gnomAD_exome_AFR=0.1017;gnomAD_exome_AMR=0.0997;gnomAD_exome_ASJ=0.0779;gnomAD_exome_EAS=0.1482;gnomAD_exome_FIN=0.0288;gnomAD_exome_NFE=0.0663;gnomAD_exome_OTH=0.0969;gnomAD_exome_SAS=0.0922;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0115;gnomAD_genome_AMR=0.0079;gnomAD_genome_ASJ=0.0041;gnomAD_genome_EAS=0.0445;gnomAD_genome_FIN=0.0072;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0.0064;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-21.3936,0,-265.599,.,.,.,.,.,.,.:270:116:34,.,.:776,.,.:3622:116,34 0/1:-24.8137,0,-464.716,.,.,.,-54.9454,-447.589,.,-523.863:439:204:47,.,27:1143,.,416:6268:204,47,27 0/1:-30.7404,0,-487.864,-61.2573,-469.92,-557.538,.,.,.,.:428:211:50,22,.:1261,478,.:6648:211,50,22 0/0:0,-6.63784,-225.925,-3.20201,-203.547,-221.587,-12.9917,-213.332,-209.897,-231.673:216:97:12,15,13:297,351,215:2985:97,12,15,13 0/0:0,-3.81377,-368.3,-21.6415,-349.909,-387.628,-26.5602,-354.827,-372.65,-391.886:348:160:27,22,20:606,395,323:4957:160,27,22,20 0/0:0,-18.4286,-480.266,.,.,.,-55.3585,-483.796,.,-518.576:491:208:35,.,29:884,.,424:6497:208,35,29 0/1:-20.4644,0,-360.377,-25.7906,-328.683,-390.378,-40.6637,-343.553,-369.339,-405.849:372:160:37,23,20:906,571,374:4996:160,37,23,20 0/1:-45.3423,0,-422.514,.,.,.,.,.,.,.:414:183:53,.,.:1324,.,.:5721:183,53 0/1:-22.1688,0,-393.703,-27.6133,-360.323,-425.524,.,.,.,.:359:169:40,24,.:964,558,.:5309:169,40,24 0/2:-64.07,.,.,0,.,-187.779,.,.,.,.:271:86:.,59,.:.,1234,.:2697:86,59 0/1:-31.4261,0,-426.334,.,.,.,.,.,.,.:409:186:48,.,.:1162,.,.:5825:186,48 0/1:-5.48121,0,-385.052,-24.5248,-363.163,-413.182,-32.158,-370.792,-395.309,-419.907:320:167:31,19,17:744,423,283:5238:167,31,19,17 0/1:-21.4263,0,-309.144,.,.,.,.,.,.,.:340:139:36,.,.:863,.,.:4325:139,36 0/1:-21.2071,0,-404.422,.,.,.,.,.,.,.:402:178:38,.,.:990,.,.:5553:178,38 0/1:-27.6302,0,-340.002,.,.,.,.,.,.,.:353:151:38,.,.:972,.,.:4701:151,38 0/1:-10.8144,0,-366.135,-22.3042,-340.304,-391.745,-38.8095,-356.805,-379.104,-405.272:365:162:38,27,22:857,551,326:5044:162,38,27,22 0/1:-2.43227,0,-493.477,.,.,.,.,.,.,.:448:216:35,.,.:897,.,.:6680:216,35 0/0:0,-1.59264,-498.043,.,.,.,.,.,.,.:431:211:35,.,.:825,.,.:6529:211,35 0/1:-60.6219,0,-386.404,.,.,.,.,.,.,.:444:172:54,.,.:1500,.,.:5378:172,54 0/1:-6.56664,0,-284.718,.,.,.,.,.,.,.:270:131:32,.,.:750,.,.:4037:131,32 chr3 57857439 . A G 8280.13 . AB=0.481579;ABP=5.25035;AC=11;AF=0.5;AN=22;AO=366;CIGAR=1X;DP=9381;DPB=760;DPRA=0;EPP=48.9553;EPPR=23.2624;GTI=0;LEN=1;MEANALT=3;MQM=40.3634;MQMR=40.3109;NS=1;NUMALT=1;ODDS=1632.31;PAIRED=0.969945;PAIREDR=0.987047;PAO=0;PQA=0;PQR=0;PRO=0;QA=10993;QR=12250;RO=386;RPL=141;RPP=44.8734;RPPR=73.5775;RPR=225;RUN=1;SAF=174;SAP=4.93259;SAR=192;SF=0,1;SRF=160;SRP=27.5153;SRR=226;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.0370;esp6500siv2_ea=0.0506;esp6500siv2_all=0.0370;esp6500siv2_ea=0.0506;1000g2015aug_all=0.0147764;avsnp147=rs111294347;Kaviar_AF=0.0342298;Kaviar_AC=5292;Kaviar_AN=154602;ExAC_ALL=0.0331;ExAC_AFR=0.0099;ExAC_AMR=0.0173;ExAC_EAS=0.0003;ExAC_FIN=0.0172;ExAC_NFE=0.0489;ExAC_OTH=0.0341;ExAC_SAS=0.0185;CLNALLELEID=251244;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.7059;dpsi_zscore=-2.583;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0324;gnomAD_exome_AFR=0.0085;gnomAD_exome_AMR=0.0179;gnomAD_exome_ASJ=0.0206;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0176;gnomAD_exome_NFE=0.0523;gnomAD_exome_OTH=0.0376;gnomAD_exome_SAS=0.0186;gnomAD_genome_ALL=0.0282;gnomAD_genome_AFR=0.0091;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0203;gnomAD_genome_NFE=0.0452;gnomAD_genome_OTH=0.0307;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-725.728,0,-823.635:760:386:366:10993:12250 . . 0/1:-576.092,0,-770.485:677:366:303:9099:11475 . . . . . . . 0/1:-922.158,0,-1069.05:984:497:472:14127:15809 . . . . . 0/1:-804.755,0,-924.576:820:418:393:12115:13381 . . 0/1:-787.55,0,-729.981:729:350:372:11604:11008 . . . . . . . . . . . 0/1:-685.037,0,-893.828:764:407:346:10547:13158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-937.283,0,-984.148:932:465:460:14071:14904 . . . . . . . 0/1:-825.63,0,-855.045:819:404:400:12320:12718 . . . . . . 0/1:-1054.28,0,-1339.6:1155:610:533:16238:19661 . . 0/1:-856.35,0,-784.915:800:370:419:12749:11840 . . . . . . . . . . . . . . . . 0/1:-1005.65,0,-1043.68:941:463:466:14794:15149:463,466 . . . . . chr3 57882581 . ATTTTTTTCCTCTCTG ATTTTTTCCTCTCTG 3937.19 . AB=0.401119;ABP=48.5302;AC=1;AF=0.5;AN=2;AO=215;CIGAR=1M1D14M;DP=536;DPB=521.812;DPRA=0;EPP=12.7163;EPPR=24.3831;GTI=0;LEN=1;MEANALT=47;MQM=40.8233;MQMR=41.248;NS=1;NUMALT=1;ODDS=906.571;PAIRED=0.967442;PAIREDR=0.956693;PAO=2;PQA=56.5;PQR=56.5;PRO=2;QA=6218;QR=8290;RO=254;RPL=99;RPP=5.92916;RPPR=6.42994;RPR=116;RUN=1;SAF=100;SAP=5.28277;SAR=115;SF=1;SRF=129;SRP=3.14709;SRR=125;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-403.137,0,-583.103:536:254:215:6218:8290:254,215 . . . . . . . . . . . . . . . . . . chr3 57882601 . C T 8765.94 . AB=0.436306;ABP=36.2048;AC=72;AF=0.5;AN=120;AO=411;CIGAR=1X;DP=43031;DPB=942;DPRA=0;EPP=56.9061;EPPR=46.6242;GTI=0;LEN=1;MEANALT=3;MQM=40.2628;MQMR=39.8687;NS=1;NUMALT=1;ODDS=1799.16;PAIRED=0.987835;PAIREDR=0.955598;PAO=0;PQA=0;PQR=0;PRO=0;QA=12715;QR=16280;RO=518;RPL=128;RPP=129.944;RPPR=127.027;RPR=283;RUN=1;SAF=260;SAP=65.7822;SAR=151;SF=0,1;SRF=319;SRP=63.3756;SRR=199;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304421:exon13:c.C1278T:p.D426D,SLMAP:NM_007159:exon14:c.C1341T:p.D447D,SLMAP:NM_001304420:exon15:c.C1392T:p.D464D;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.2108;esp6500siv2_ea=0.2420;esp6500siv2_all=0.2108;esp6500siv2_ea=0.2420;1000g2015aug_all=0.299521;avsnp147=rs17058639;Kaviar_AF=0.279466;Kaviar_AC=43206;Kaviar_AN=154602;ExAC_ALL=0.2959;ExAC_AFR=0.1563;ExAC_AMR=0.3624;ExAC_EAS=0.4884;ExAC_FIN=0.2989;ExAC_NFE=0.2669;ExAC_OTH=0.2938;ExAC_SAS=0.3540;CLNALLELEID=500813;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3946;dpsi_zscore=1.730;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2978;gnomAD_exome_AFR=0.1545;gnomAD_exome_AMR=0.3616;gnomAD_exome_ASJ=0.3445;gnomAD_exome_EAS=0.4801;gnomAD_exome_FIN=0.2951;gnomAD_exome_NFE=0.2560;gnomAD_exome_OTH=0.3089;gnomAD_exome_SAS=0.3421;gnomAD_genome_ALL=0.2427;gnomAD_genome_AFR=0.1581;gnomAD_genome_AMR=0.3325;gnomAD_genome_ASJ=0.3767;gnomAD_genome_EAS=0.4670;gnomAD_genome_FIN=0.2784;gnomAD_genome_NFE=0.2499;gnomAD_genome_OTH=0.2736;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-816.59,0,-1108.17:942:518:411:12715:16280 . . 0/1:-738.369,0,-743.312:734:359:362:11196:11222 . . . 0/1:-610.888,0,-590.452:581:282:292:9035:9038 0/1:-899.054,0,-817.99:832:395:428:13389:12512 0/1:-613.091,0,-741.217:662:349:304:9491:10823 . 1/1:-1745.16,-183.184,0:695:10:677:20610:295 0/1:-524.745,0,-735.285:624:341:271:8270:10642 0/1:-634.231,0,-675.524:626:311:310:9533:9948 . 1/1:-1666.9,-167.157,0:677:13:658:20030:405 0/1:-1200.3,0,-1453.36:1300:684:594:18310:21403 1/1:-2079.2,-218.11,0:820:11:803:24545:303 . . 0/1:-994.223,0,-954.407:940:452:477:14945:14421 0/1:-549.592,0,-545.642:553:269:271:8319:8394 . 0/1:-816.168,0,-957.585:868:446:410:12598:14158 0/1:-558.523,0,-726.84:658:347:296:8927:10820 . . . . . . . 0/1:-635.873,0,-660.404:648:319:321:9680:9984 0/1:-951.997,0,-877.267:888:425:453:14105:13437 0/1:-766.36,0,-1032.07:873:480:387:11928:14972 1/1:-1552.08,-166.079,0:624:7:611:18525:226 . . 0/1:-413.784,0,-435.313:428:212:205:6326:6562 0/1:-879.545,0,-937.711:879:446:427:13197:14063 0/1:-657.833,0,-683.621:646:322:316:9883:10159 . . . 0/1:-732.525,0,-806.723:754:382:363:11129:12073 0/1:-684.393,0,-677.726:669:322:335:10397:10173 1/1:-1014.85,-85.9992,0:420:13:401:12308:438 0/1:-517.617,0,-804.423:664:378:274:8370:11618 0/1:-832.714,0,-1116.15:944:520:412:13049:16310 0/1:-695.822,0,-789.301:747:384:350:10713:11768 . 0/1:-827.832,0,-971.547:900:470:418:12750:14396 . 0/1:-635.322,0,-566.481:587:278:304:9603:8674 0/1:-468.568,0,-671.056:548:307:236:7390:9848 . . . 0/1:-744.652,0,-584.012:657:290:358:10936:9136 0/1:-494.776,0,-501.177:506:254:250:7625:7837 . 0/1:-606.755,0,-568.014:592:277:299:9047:8575 . . 1/1:-1871.19,-192.851,0:716:8:704:21999:244 . 0/1:-885.424,0,-872.152:863:424:429:13309:13201 . . . . 0/1:-1006.39,0,-976.291:991:473:499:15149:14948 1/1:-1289.01,-139.833,0:554:9:536:15604:275 1/1:-1897.72,-207.649,0:724:3:716:22118:99 0/1:-914.541,0,-995.384:945:473:458:13994:14847 . 0/1:-814.24,0,-966.721:879:456:410:12626:14312 1/1:-1289.25,-133.136,0:514:8:501:15292:240 . 1/1:-2054.75,-204.51,0:822:14:798:24588:452 . . 0/1:-675.679,0,-721.833:712:354:341:10421:10838 . 0/1:-597.124,0,-659.766:620:310:301:9170:9791 . 1/1:-2003.22,-207.099,0:790:11:775:23709:333 . 0/1:-886.449,0,-941.751:930:457:454:13542:14243 0/1:-1112.74,0,-1001.66:1037:484:540:16548:15216 . . 0/1:-740.556,0,-726.161:708:342:353:10939:10836 0/1:-783.792,0,-924.629:841:435:395:12063:13637 . 0/1:-514.519,0,-508.857:474:232:239:7670:7554:232,239 . . . 0/1:-487.709,0,-643.525:539:292:241:7625:9175:292,241 0/1:-611.577,0,-810.999:675:365:296:9416:11659:365,296 0/1:-568.299,0,-643.078:564:292:266:8560:9385:292,266 0/1:-573.272,0,-789.48:633:346:280:8890:11261:346,280 . 0/1:-588.683,0,-637.968:574:294:275:8838:9404:294,275 . 0/1:-464.074,0,-573.876:482:258:223:7002:8315:258,223 . . 0/1:-496.709,0,-765.209:593:348:240:7818:11006:348,240 1/1:-1575.5,-166.185,0:599:5:591:18533:172:5,591 0/1:-705.043,0,-958.813:766:417:343:10792:13639:417,343 . . . chr3 57898376 . T A 5347.07 . AB=0.483421;ABP=4.37837;AC=1;AF=0.5;AN=2;AO=277;CIGAR=1X;DP=573;DPB=573;DPRA=0;EPP=59.6489;EPPR=30.5873;GTI=0;LEN=1;MEANALT=3;MQM=39.4296;MQMR=40.0341;NS=1;NUMALT=1;ODDS=1231.21;PAIRED=0.98556;PAIREDR=0.996587;PAO=0;PQA=0;PQR=0;PRO=0;QA=8647;QR=9451;RO=293;RPL=201;RPP=125.499;RPPR=146.201;RPR=76;RUN=1;SAF=94;SAP=65.105;SAR=183;SF=0;SRF=99;SRP=69.8961;SRR=194;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon4:c.T321A:p.L107L,SLMAP:NM_001311179:exon5:c.T396A:p.L132L,SLMAP:NM_001304422:exon6:c.T519A:p.L173L,SLMAP:NM_001311178:exon6:c.T519A:p.L173L,SLMAP:NM_001304421:exon16:c.T1803A:p.L601L,SLMAP:NM_007159:exon17:c.T1866A:p.L622L,SLMAP:NM_001304420:exon18:c.T1917A:p.L639L;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.0222;esp6500siv2_ea=0.0320;esp6500siv2_all=0.0222;esp6500siv2_ea=0.0320;1000g2015aug_all=0.0071885;avsnp147=rs35219531;Kaviar_AF=0.0167268;Kaviar_AC=2586;Kaviar_AN=154602;ExAC_ALL=0.0178;ExAC_AFR=0.0043;ExAC_AMR=0.0071;ExAC_EAS=0;ExAC_FIN=0.0086;ExAC_NFE=0.0282;ExAC_OTH=0.0111;ExAC_SAS=0.0053;CLNALLELEID=239292;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3555;dpsi_zscore=0.966;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0166;gnomAD_exome_AFR=0.0043;gnomAD_exome_AMR=0.0061;gnomAD_exome_ASJ=0.0038;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0108;gnomAD_exome_NFE=0.0294;gnomAD_exome_OTH=0.0121;gnomAD_exome_SAS=0.0059;gnomAD_genome_ALL=0.0159;gnomAD_genome_AFR=0.0061;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0089;gnomAD_genome_NFE=0.0254;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-566.925,0,-636.948:573:293:277:8647:9451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 57899013 . ACTCTCTG ACTCTG 2502.48 . AB=0.410853;ABP=38.6292;AC=2;AF=0.5;AN=4;AO=212;CIGAR=1M2D5M;DP=957;DPB=461.625;DPRA=0;EPP=78.766;EPPR=87.8481;GTI=0;LEN=2;MEANALT=44;MQM=40.1226;MQMR=40.7922;NS=1;NUMALT=1;ODDS=579.19;PAIRED=1;PAIREDR=0.995671;PAO=7;PQA=226;PQR=226;PRO=7;QA=4631;QR=6404;RO=231;RPL=86;RPP=19.3988;RPPR=23.7756;RPR=126;RUN=1;SAF=105;SAP=3.05127;SAR=107;SF=0,1;SRF=96;SRP=17.3082;SRR=135;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.215e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.342e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.82e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-268.327,0,-420.709:516:231:212:4631:6404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-261.038,0,-474.346:441:219:180:4318:6712:219,180 . . . . . chr3 57902639 . G A 5743.08 . AB=0.479212;ABP=4.72562;AC=8;AF=0.5;AN=14;AO=219;CIGAR=1X;DP=3323;DPB=457;DPRA=0;EPP=3.02022;EPPR=5.40641;GTI=0;LEN=1;MEANALT=2;MQM=39.6667;MQMR=40.6509;NS=1;NUMALT=1;ODDS=993.725;PAIRED=0.981735;PAIREDR=0.987069;PAO=0;PQA=0;PQR=0;PRO=0;QA=6862;QR=7429;RO=232;RPL=82;RPP=33.0044;RPPR=17.986;RPR=137;RUN=1;SAF=155;SAP=85.1197;SAR=64;SF=0;SRF=148;SRP=41.348;SRR=84;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon6:c.G498A:p.Q166Q,SLMAP:NM_001311179:exon7:c.G573A:p.Q191Q,SLMAP:NM_001304422:exon8:c.G696A:p.Q232Q,SLMAP:NM_001311178:exon8:c.G696A:p.Q232Q,SLMAP:NM_001304421:exon18:c.G1980A:p.Q660Q,SLMAP:NM_007159:exon19:c.G2043A:p.Q681Q,SLMAP:NM_001304420:exon20:c.G2094A:p.Q698Q;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.0229;esp6500siv2_ea=0.0322;esp6500siv2_all=0.0229;esp6500siv2_ea=0.0322;1000g2015aug_all=0.0133786;avsnp147=rs17745496;Kaviar_AF=0.0233244;Kaviar_AC=3606;Kaviar_AN=154602;ExAC_ALL=0.0233;ExAC_AFR=0.0042;ExAC_AMR=0.0145;ExAC_EAS=0.0001;ExAC_FIN=0.0243;ExAC_NFE=0.0334;ExAC_OTH=0.0189;ExAC_SAS=0.0127;CLNALLELEID=394180;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0697;dpsi_zscore=0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0239;gnomAD_exome_AFR=0.0043;gnomAD_exome_AMR=0.0184;gnomAD_exome_ASJ=0.0481;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0244;gnomAD_exome_NFE=0.0327;gnomAD_exome_OTH=0.0294;gnomAD_exome_SAS=0.0123;gnomAD_genome_ALL=0.0223;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.033;gnomAD_genome_OTH=0.0296;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-450.325,0,-505.933:457:232:219:6862:7429 . . . . . . . . 0/1:-389.877,0,-396.44:375:185:185:5862:5865 . . . . . . 0/1:-497.243,0,-580.277:531:275:249:7688:8558 . . 0/1:-499.262,0,-557.172:524:263:253:7611:8236 . . 0/1:-329.833,0,-448.812:382:208:171:5185:6559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1472.28,-151.756,0:579:8:566:17464:249 . . . 0/1:-500.21,0,-488.36:475:228:243:7376:7315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 57908594 . CTTTTTTTTTCTTTGCC CTTTTTTTTCTTTGCC 6579.66 . AB=0.464455;ABP=9.95695;AC=42;AF=0.5;AN=76;AO=294;CIGAR=1M1D9M;DP=27583;DPB=618.182;DPRA=0;EPP=5.40335;EPPR=3.39722;GTI=0;LEN=1;MEANALT=39;MQM=40.0612;MQMR=39.8218;NS=1;NUMALT=1;ODDS=1122.2;PAIRED=0.962585;PAIREDR=0.96;PAO=15.5;PQA=415;PQR=251;PRO=10.5;QA=7853;QR=8673;RO=275;RPL=64;RPP=206.538;RPPR=239.338;RPR=230;RUN=1;SAF=182;SAP=39.2015;SAR=112;SF=0,1;SRF=162;SRP=21.9692;SRR=113;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.1439;esp6500siv2_ea=0.1907;esp6500siv2_all=0.1439;esp6500siv2_ea=0.1907;1000g2015aug_all=0.1875;avsnp147=rs3832206;Kaviar_AF=0.0059184;Kaviar_AC=915;Kaviar_AN=154602;ExAC_ALL=0.2117;ExAC_AFR=0.0529;ExAC_AMR=0.3554;ExAC_EAS=0.4523;ExAC_FIN=0.1633;ExAC_NFE=0.1998;ExAC_OTH=0.2067;ExAC_SAS=0.1412;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2196;gnomAD_exome_AFR=0.0461;gnomAD_exome_AMR=0.3364;gnomAD_exome_ASJ=0.1918;gnomAD_exome_EAS=0.4553;gnomAD_exome_FIN=0.1828;gnomAD_exome_NFE=0.2014;gnomAD_exome_OTH=0.1977;gnomAD_exome_SAS=0.1402;gnomAD_genome_ALL=0.1598;gnomAD_genome_AFR=0.0490;gnomAD_genome_AMR=0.2907;gnomAD_genome_ASJ=0.15;gnomAD_genome_EAS=0.4554;gnomAD_genome_FIN=0.1655;gnomAD_genome_NFE=0.1827;gnomAD_genome_OTH=0.1770;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:.,.,-562.258:633:275:294:7853:8673 0/1:.,.,-484.007:481:229:201:5340:7196 0/1:.,.,-551.306:736:278:363:9671:8763 1/1:.,.,0:916:19:827:22068:579 1/1:.,.,0:715:9:641:17310:287 . . 0/1:.,.,-656.403:815:327:376:9986:10275 . . . 0/1:.,.,-512.693:623:254:303:8135:8014 . . . . . 0/1:.,.,-495.918:581:243:263:6719:7656 . 0/1:.,.,-782.152:951:378:465:12840:12024 0/1:.,.,-493.48:598:246:281:7401:7767 0/1:.,.,-700.233:821:342:373:10024:10789 0/1:.,.,-688.351:791:327:352:9309:10418 . 0/1:.,.,-547.123:669:268:312:8462:8439 . . . . 0/1:.,.,-884.714:971:424:433:12093:13333 . . 0/1:.,.,-686.208:801:333:383:10559:10454 . . . . 0/1:.,.,-417.577:503:205:231:6187:6425 . . . 1/1:.,.,0:825:13:728:20033:448 0/1:.,.,-879.536:1040:441:489:13155:13767 0/1:.,.,-687.32:780:326:372:10029:10306 . . . 0/1:.,.,-774.238:868:378:400:11001:11900 . 1/1:.,.,0:734:14:643:16833:443 0/1:.,.,-825.944:870:389:380:10411:12344 . 0/1:.,.,-448.211:586:227:274:7331:7108 . . . 0/1:.,.,-396.905:489:200:230:6030:6326 0/1:.,.,-587.988:704:289:316:8253:9079 0/1:.,.,-425.284:606:218:295:7713:6844 . . . . . . . . 0/1:.,.,-671.904:663:314:263:7049:9931 0/1:.,.,-608.387:734:300:341:9440:9401 0/1:.,.,-865.354:913:404:398:11057:12788 . . . . . . . 0/1:.,.,-483.244:499:230:214:5625:7279 . . . . . . . . 0/1:.,.,-466.901:467:219:192:5274:6952 0/1:.,.,-669.485:844:334:397:10852:10525 . . . 0/1:.,.,-695.37:800:337:362:9813:10627 0/1:.,.,-700.224:816:347:383:10298:10854 . . 0/1:-581.08,0,-679.586:741:309:311:8870:9995:309,311 0/1:-586.978,0,-802.368:846:363:341:9330:11697:363,341 0/1:-301.401,0,-378.557:422:172:168:4668:5535:172,168 0/1:-607.279,0,-602.059:731:285:328:9169:9140:285,328 . . . . . . . . . . . . . . . chr3 57908707 . A G 6778.01 . AB=0.475956;ABP=7.08281;AC=1;AF=0.5;AN=2;AO=386;CIGAR=1X;DP=811;DPB=811;DPRA=0;EPP=17.0742;EPPR=15.6957;GTI=0;LEN=1;MEANALT=3;MQM=38.4145;MQMR=39.2628;NS=1;NUMALT=1;ODDS=1560.69;PAIRED=0.971503;PAIREDR=0.963504;PAO=0;PQA=0;PQR=0;PRO=0;QA=10987;QR=12691;RO=411;RPL=214;RPP=12.9338;RPPR=8.76391;RPR=172;RUN=1;SAF=194;SAP=3.0328;SAR=192;SF=0;SRF=213;SRP=4.19906;SRR=198;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon7:c.A755G:p.Q252R,SLMAP:NM_001304422:exon9:c.A953G:p.Q318R,SLMAP:NM_001311178:exon9:c.A953G:p.Q318R,SLMAP:NM_001304421:exon19:c.A2237G:p.Q746R,SLMAP:NM_007159:exon20:c.A2300G:p.Q767R,SLMAP:NM_001304420:exon21:c.A2351G:p.Q784R;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs142778041;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=9.621e-05;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=519857;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.095;MutationAssessor_pred=M;FATHMM_score=0.65;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.339;CADD_raw=2.207;CADD_phred=17.56;DANN_score=0.999;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.422;MetaSVM_pred=T;MetaLR_score=0.366;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=1.4557;dpsi_zscore=1.760;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=9.748e-05;gnomAD_genome_ALL=6.455e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-688.096,0,-831.29:811:411:386:10987:12691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 180702510 . A G 7126.34 . AB=0.491892;ABP=3.43286;AC=1;AF=0.5;AN=2;AO=364;CIGAR=1X;DP=740;DPB=740;DPRA=0;EPP=9.90651;EPPR=4.04404;GTI=0;LEN=1;MEANALT=3;MQM=40.2885;MQMR=40.3606;NS=1;NUMALT=1;ODDS=1640.9;PAIRED=0.980769;PAIREDR=0.991549;PAO=0;PQA=0;PQR=0;PRO=0;QA=10892;QR=10927;RO=355;RPL=155;RPP=20.4059;RPPR=5.70782;RPR=209;RUN=1;SAF=216;SAP=30.5952;SAR=148;SF=0;SRF=198;SRP=13.2927;SRR=157;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q26.33;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.00139776;avsnp147=rs141982712;Kaviar_AF=0.0014553;Kaviar_AC=225;Kaviar_AN=154602;ExAC_ALL=0.0024;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0048;ExAC_FIN=0.0099;ExAC_NFE=0.0023;ExAC_OTH=0.0147;ExAC_SAS=0.0004;CLNALLELEID=210974;CLNDN=3-methylglutaconic_aciduria_type_V|not_specified;CLNDISDB=MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0031;gnomAD_exome_FIN=0.0093;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0041;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-725.519,0,-725.116:740:355:364:10892:10927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 180704843 . TAATAAAATAAA TAATAAA 2706.99 . AB=0.408428;ABP=47.9496;AC=1;AF=0.5;AN=2;AO=252;CIGAR=1M5D6M;DP=617;DPB=526.333;DPRA=0;EPP=22.8638;EPPR=8.96861;GTI=0;LEN=5;MEANALT=30;MQM=37.7143;MQMR=41.3293;NS=1;NUMALT=1;ODDS=623.307;PAIRED=0.996032;PAIREDR=0.987805;PAO=17;PQA=463;PQR=571;PRO=21;QA=5419;QR=10150;RO=328;RPL=89;RPP=50.1967;RPPR=22.3152;RPR=163;RUN=1;SAF=169;SAP=66.7413;SAR=83;SF=0;SRF=210;SRP=59.0449;SRR=118;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q26.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-293.476,0,-721.215:617:328:252:5419:10150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 180705871 . C T 10082.05 . AB=0.478617;ABP=7.37498;AC=5;AF=0.5;AN=10;AO=526;CIGAR=1X;DP=6209;DPB=1099;DPRA=0;EPP=136.766;EPPR=168.699;GTI=0;LEN=1;MEANALT=3;MQM=37.5228;MQMR=38.8632;NS=1;NUMALT=1;ODDS=1937.66;PAIRED=0.975285;PAIREDR=0.95183;PAO=0;PQA=0;PQR=0;PRO=0;QA=14339;QR=14671;RO=519;RPL=178;RPP=122.317;RPPR=90.9779;RPR=348;RUN=1;SAF=223;SAP=29.4313;SAR=303;SF=0,1;SRF=215;SRP=36.1514;SRR=304;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=DNAJC19:NM_145261:exon3:c.G69A:p.L23L\x3bDNAJC19:NM_145261:exon3:c.G69A:p.L23L;cytoBand=3q26.33;genomicSuperDups=.;esp6500siv2_all=0.0035;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0035;esp6500siv2_ea=0.0044;1000g2015aug_all=0.00279553;avsnp147=rs142023670;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0011;ExAC_AMR=0.0065;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0043;ExAC_OTH=0.0077;ExAC_SAS=0.0098;CLNALLELEID=140823;CLNDN=3-methylglutaconic_aciduria_type_V|not_specified;CLNDISDB=MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1296;dpsi_zscore=0.566;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0047;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0068;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0045;gnomAD_exome_OTH=0.0091;gnomAD_exome_SAS=0.0098;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-877.901,0,-931.893:1099:519:526:14339:14671 0/1:-1108.47,0,-1099.01:1320:618:648:17919:17400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1371.28,0,-1401.58:1365:682:667:20741:20967:682,667 . 0/1:-1041.15,0,-1045.57:1012:502:493:15618:15649:502,493 . . . . 0/1:-1500.74,0,-1469.82:1413:697:695:22322:22007:697,695 . . . chr3 180705871 . C T 12721.23 . AB=0.488645;ABP=4.53908;AC=3;AF=0.5;AN=6;AO=667;CIGAR=1X;DP=3790;DPB=1365;DPRA=0;EPP=134.539;EPPR=84.5201;GTI=0;LEN=1;MEANALT=3;MQM=39.7601;MQMR=40.195;NS=1;NUMALT=1;ODDS=3072.79;PAIRED=0.973013;PAIREDR=0.950147;PAO=0;PQA=0;PQR=0;PRO=0;QA=20741;QR=20967;RO=682;RPL=230;RPP=142.509;RPPR=168.526;RPR=437;RUN=1;SAF=305;SAP=13.5877;SAR=362;SF=1;SRF=304;SRP=20.4458;SRR=378;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=DNAJC19:NM_145261:exon3:c.G69A:p.L23L\x3bDNAJC19:NM_145261:exon3:c.G69A:p.L23L;cytoBand=3q26.33;genomicSuperDups=.;esp6500siv2_all=0.0035;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0035;esp6500siv2_ea=0.0044;1000g2015aug_all=0.00279553;avsnp147=rs142023670;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0011;ExAC_AMR=0.0065;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0043;ExAC_OTH=0.0077;ExAC_SAS=0.0098;CLNALLELEID=140823;CLNDN=3-methylglutaconic_aciduria_type_V|not_specified;CLNDISDB=MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1296;dpsi_zscore=0.566;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0047;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0068;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0045;gnomAD_exome_OTH=0.0091;gnomAD_exome_SAS=0.0098;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1371.28,0,-1401.58:1365:682:667:20741:20967:682,667 . 0/1:-1041.15,0,-1045.57:1012:502:493:15618:15649:502,493 . . . . 0/1:-1500.74,0,-1469.82:1413:697:695:22322:22007:697,695 . . . chr3 196771513 . G A 10118.39 . AB=0.479245;ABP=6.97631;AC=17;AF=0.5;AN=32;AO=508;CIGAR=1X;DP=15961;DPB=1060;DPRA=0;EPP=245.138;EPPR=303.597;GTI=0;LEN=1;MEANALT=3;MQM=39.1673;MQMR=39.6155;NS=1;NUMALT=1;ODDS=2058.65;PAIRED=0.984252;PAIREDR=0.978641;PAO=0;PQA=0;PQR=0;PRO=0;QA=14894;QR=14466;RO=515;RPL=318;RPP=73.0446;RPPR=39.4784;RPR=190;RUN=1;SAF=231;SAP=12.0553;SAR=277;SF=0,1;SRF=232;SRP=13.9773;SRR=283;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.C2348T:p.P783L,DLG1:NM_001204387:exon22:c.C2384T:p.P795L,DLG1:NM_001204386:exon25:c.C2660T:p.P887L,DLG1:NM_001098424:exon26:c.C2696T:p.P899L,DLG1:NM_001290983:exon26:c.C2696T:p.P899L,DLG1:NM_004087:exon26:c.C2762T:p.P921L;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0355;esp6500siv2_ea=0.0471;esp6500siv2_all=0.0355;esp6500siv2_ea=0.0471;1000g2015aug_all=0.0251597;avsnp147=rs34492126;Kaviar_AF=0.0422634;Kaviar_AC=6534;Kaviar_AN=154602;ExAC_ALL=0.0435;ExAC_AFR=0.0078;ExAC_AMR=0.0174;ExAC_EAS=0.0007;ExAC_FIN=0.0722;ExAC_NFE=0.0535;ExAC_OTH=0.0530;ExAC_SAS=0.0544;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.931;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.9;MutationAssessor_pred=M;FATHMM_score=1.09;FATHMM_pred=T;PROVEAN_score=-8.73;PROVEAN_pred=D;VEST3_score=0.431;CADD_raw=4.635;CADD_phred=24.5;DANN_score=0.999;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.729;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.48;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.340;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM161902#"Macrocephaly_autism_epilepsy_phenotype";gnomAD_exome_ALL=0.0420;gnomAD_exome_AFR=0.0061;gnomAD_exome_AMR=0.0182;gnomAD_exome_ASJ=0.0492;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0743;gnomAD_exome_NFE=0.0510;gnomAD_exome_OTH=0.0390;gnomAD_exome_SAS=0.0504;gnomAD_genome_ALL=0.0415;gnomAD_genome_AFR=0.0089;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0799;gnomAD_genome_NFE=0.0556;gnomAD_genome_OTH=0.0524;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-970.475,0,-938.299:1060:515:508:14894:14466 . . 0/1:-736.686,0,-749.369:807:408:376:11155:11299 . . . . . . . . . . . . . . . 0/1:-1022.14,0,-1005.8:1102:531:539:15699:15433 . . . . . . 1/1:-3358.96,-384.232,0:1398:13:1363:39671:338 . . 0/1:-1007.44,0,-914.322:1050:502:519:15330:14299 0/1:-1034.39,0,-1089.56:1158:575:552:16007:16449 . . . . 0/1:-1174.24,0,-1160.98:1286:628:628:18308:17980 . . . . . . . . . . 0/1:-815.097,0,-889.221:1011:501:482:13358:13978 . . . . . . . . 0/1:-510.468,0,-621.324:648:332:294:8297:9413 . 0/1:-669.445,0,-782.786:776:400:357:10394:11664 . . . . . . . . . . . . 0/1:-1044.06,0,-1012.01:1118:540:548:15900:15501 . . . . . . . . . . 0/1:-845.446,0,-675.404:853:382:446:12884:10760 . 0/1:-528.636,0,-523.615:572:285:272:8097:7999 . . . . . . . . . . . . . . . 0/1:-995.949,0,-1042.3:1000:508:478:14891:15378:508,478 . . . . 0/1:-1045.23,0,-1030.57:993:486:495:15483:15219:486,495 0/1:-1103.36,0,-1146.83:1129:573:543:16776:16974:573,543 . . . . . chr3 196771554 . T C 8706.57 . AB=0.479303;ABP=6.42599;AC=17;AF=0.5;AN=32;AO=440;CIGAR=1X;DP=13276;DPB=918;DPRA=0;EPP=44.7815;EPPR=43.3159;GTI=0;LEN=1;MEANALT=3;MQM=39.5432;MQMR=39.3487;NS=1;NUMALT=1;ODDS=1891.01;PAIRED=0.977273;PAIREDR=0.97807;PAO=0;PQA=0;PQR=0;PRO=0;QA=13145;QR=14391;RO=456;RPL=327;RPP=229.021;RPPR=310.236;RPR=113;RUN=1;SAF=177;SAP=39.5108;SAR=263;SF=0,1;SRF=165;SRP=78.6118;SRR=291;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.A2307G:p.K769K,DLG1:NM_001204387:exon22:c.A2343G:p.K781K,DLG1:NM_001204386:exon25:c.A2619G:p.K873K,DLG1:NM_001098424:exon26:c.A2655G:p.K885K,DLG1:NM_001290983:exon26:c.A2655G:p.K885K,DLG1:NM_004087:exon26:c.A2721G:p.K907K;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0354;esp6500siv2_ea=0.0470;esp6500siv2_all=0.0354;esp6500siv2_ea=0.0470;1000g2015aug_all=0.0253594;avsnp147=rs35370245;Kaviar_AF=0.0422634;Kaviar_AC=6534;Kaviar_AN=154602;ExAC_ALL=0.0435;ExAC_AFR=0.0078;ExAC_AMR=0.0174;ExAC_EAS=0.0001;ExAC_FIN=0.0722;ExAC_NFE=0.0535;ExAC_OTH=0.0530;ExAC_SAS=0.0544;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0426;gnomAD_exome_AFR=0.0064;gnomAD_exome_AMR=0.0184;gnomAD_exome_ASJ=0.0495;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0745;gnomAD_exome_NFE=0.0517;gnomAD_exome_OTH=0.0404;gnomAD_exome_SAS=0.0521;gnomAD_genome_ALL=0.0415;gnomAD_genome_AFR=0.0089;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0797;gnomAD_genome_NFE=0.0557;gnomAD_genome_OTH=0.0521;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-860.546,0,-938.776:918:456:440:13145:14391 . . 0/1:-663.997,0,-797.297:693:360:322:10043:11628 . . . . . . . . . . . . . . . 0/1:-843.529,0,-997.074:921:467:437:13177:14786 . . . . . . 1/1:-2901.29,-309.605,0:1171:12:1131:34665:402 . . 0/1:-930.883,0,-926.955:915:447:456:14223:14040 0/1:-978.638,0,-1086.94:997:501:480:14987:16024 . . . . 0/1:-1078.17,0,-1091.7:1095:540:536:16652:16692 . . . . . . . . . . 0/1:-682.665,0,-867.268:821:422:379:11187:13221 . . . . . . . . 0/1:-418.131,0,-620.271:525:291:224:6898:9098 . 0/1:-659.995,0,-684.647:663:321:328:10001:10295 . . . . . . . . . . . . 0/1:-935.428,0,-919.059:938:451:469:14225:14020 . . . . . . . . . . 0/1:-680.756,0,-773.896:734:369:346:10581:11668 . 0/1:-452.806,0,-517.496:486:245:232:7050:7725 . . . . . . . . . . . . . . . 0/1:-809.86,0,-832.343:766:379:377:11973:12210:379,377 . . . . 0/1:-845.884,0,-801.548:780:377:392:12509:11915:377,392 0/1:-863.351,0,-949.749:853:428:408:12984:13788:428,408 . . . . . chr3 196778421 . A C 7391.21 . AB=0.491826;ABP=3.43631;AC=1;AF=0.5;AN=2;AO=361;CIGAR=1X;DP=734;DPB=734;DPRA=0;EPP=4.74868;EPPR=4.00482;GTI=0;LEN=1;MEANALT=3;MQM=39.3269;MQMR=39.9729;NS=1;NUMALT=1;ODDS=1701.89;PAIRED=0.858726;PAIREDR=0.875339;PAO=0;PQA=0;PQR=0;PRO=0;QA=11312;QR=11849;RO=369;RPL=192;RPP=6.19232;RPPR=4.33437;RPR=169;RUN=1;SAF=198;SAP=10.3789;SAR=163;SF=1;SRF=227;SRP=45.5276;SRR=142;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0069;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0069;esp6500siv2_ea=0.0031;1000g2015aug_all=0.0115815;avsnp147=rs112212968;Kaviar_AF=0.0074385;Kaviar_AC=1150;Kaviar_AN=154602;ExAC_ALL=0.0080;ExAC_AFR=0.0179;ExAC_AMR=0.0028;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0046;ExAC_OTH=0.0132;ExAC_SAS=0.0261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8424;dpsi_zscore=-1.373;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0075;gnomAD_exome_AFR=0.0163;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0203;gnomAD_exome_EAS=5.84e-05;gnomAD_exome_FIN=4.494e-05;gnomAD_exome_NFE=0.0038;gnomAD_exome_OTH=0.0099;gnomAD_exome_SAS=0.0265;gnomAD_genome_ALL=0.0063;gnomAD_genome_AFR=0.0165;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-748.029,0,-793.924:734:369:361:11312:11849:369,361 . . chr3 196778438 . C T 10527.80 . AB=0.465608;ABP=12.7187;AC=76;AF=0.5;AN=126;AO=440;CIGAR=1X;DP=55463;DPB=945;DPRA=0;EPP=41.2282;EPPR=7.47534;GTI=0;LEN=1;MEANALT=3;MQM=37.4114;MQMR=38.3916;NS=1;NUMALT=1;ODDS=1812.83;PAIRED=0.745455;PAIREDR=0.757028;PAO=0;PQA=0;PQR=0;PRO=0;QA=13149;QR=15335;RO=498;RPL=217;RPP=3.18797;RPPR=5.95792;RPR=223;RUN=1;SAF=293;SAP=108.208;SAR=147;SF=0,1;SRF=317;SRP=83.66;SRR=181;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.3104;esp6500siv2_ea=0.28;esp6500siv2_all=0.3104;esp6500siv2_ea=0.28;1000g2015aug_all=0.264577;avsnp147=rs7629533;Kaviar_AF=0.258121;Kaviar_AC=39906;Kaviar_AN=154602;ExAC_ALL=0.2626;ExAC_AFR=0.3631;ExAC_AMR=0.1838;ExAC_EAS=0.0741;ExAC_FIN=0.1527;ExAC_NFE=0.2687;ExAC_OTH=0.2808;ExAC_SAS=0.3720;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6015;dpsi_zscore=1.229;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2566;gnomAD_exome_AFR=0.3643;gnomAD_exome_AMR=0.1937;gnomAD_exome_ASJ=0.3362;gnomAD_exome_EAS=0.0727;gnomAD_exome_FIN=0.1546;gnomAD_exome_NFE=0.2717;gnomAD_exome_OTH=0.2616;gnomAD_exome_SAS=0.3685;gnomAD_genome_ALL=0.2645;gnomAD_genome_AFR=0.3658;gnomAD_genome_AMR=0.2212;gnomAD_genome_ASJ=0.2980;gnomAD_genome_EAS=0.0617;gnomAD_genome_FIN=0.1516;gnomAD_genome_NFE=0.2591;gnomAD_genome_OTH=0.2074;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-809.778,0,-995.108:945:498:440:13149:15335 . 1/1:-2294.43,-253.475,0:987:15:943:28553:444 0/1:-537.104,0,-669.109:639:331:292:8680:10386 . . 0/1:-667.049,0,-920.473:851:459:380:11168:14242 . 0/1:-550.072,0,-1018.52:821:500:312:9582:15145 . 0/1:-885.335,0,-825.318:902:432:457:13726:13370 . . . 0/1:-753.135,0,-784.116:785:383:393:11946:12137 0/1:-1086.58,0,-1320.19:1207:645:547:17212:19972 . . 0/1:-959.777,0,-1035.63:1024:516:493:15017:16167 . 0/1:-677.806,0,-781.199:755:387:356:10750:11986 0/1:-1088.68,0,-1043.4:1099:510:572:16974:16091 . 1/1:-2549.27,-270.876,0:1049:15:1017:30563:470 . . 0/1:-721.27,0,-1032.17:914:504:393:11944:15565 1/1:-2410.05,-265.136,0:963:10:944:29161:249 0/1:-558.526,0,-753.602:705:383:316:9292:11698 0/1:-578.655,0,-810.179:715:390:312:9403:12413 0/1:-893.333,0,-909.537:936:468:460:13889:14417 . 0/1:-903.379,0,-1122.76:1046:563:472:14433:17098 . . 0/1:-983.131,0,-1153.32:1093:568:512:15558:17597 . . . 0/1:-508.266,0,-697.822:617:341:271:8279:10642 0/1:-841.652,0,-1349.98:1116:644:454:14184:19989 0/1:-718.851,0,-856.117:785:411:364:11341:12894 . 0/1:-1029.65,0,-937.859:1015:481:520:16186:14905 . . 1/1:-2329.26,-261.915,0:942:7:924:28005:208 1/1:-1213.16,-122.267,0:501:9:487:15078:306 . 1/1:-2504.57,-257.961,0:1020:21:988:30453:561 0/1:-784.564,0,-1080.32:960:522:429:13189:16329 . 0/1:-1085.46,0,-1141.83:1104:567:530:16659:17405 0/1:-873.863,0,-1082.86:1002:531:457:14093:16468 0/1:-707.851,0,-853.79:824:435:376:11475:13455 0/1:-670.095,0,-773.152:738:382:348:10656:11874 1/1:-2152.93,-238.497,0:884:13:862:26089:340 0/1:-412.072,0,-731.124:601:355:235:7165:10944 . 0/1:-793.353,0,-803.92:827:402:409:12551:12606 . 1/1:-2626.03,-279.3,0:1052:11:1028:31856:380 0/1:-623.057,0,-872.31:760:418:333:10204:13017 . . . . 0/1:-979.171,0,-803.377:953:427:508:15275:13132 0/1:-609.856,0,-726.231:701:369:322:9840:11251 0/1:-822.177,0,-1113.51:988:543:437:13568:16955 0/1:-805.901,0,-919.735:869:449:415:12676:14225 0/1:-1003.13,0,-1269.08:1138:604:519:15866:18836 . . 0/1:-777.625,0,-973.284:886:478:397:12360:14659 . 1/1:-2291.3,-222.09,0:946:21:915:28153:696 0/1:-1004.07,0,-1259.08:1170:623:534:16302:19180 0/1:-603.467,0,-802.63:746:399:336:9879:12416 0/1:-662.132,0,-619.841:687:330:350:10534:10096 1/1:-2281.95,-246.303,0:934:12:910:27696:362 . 0/1:-985.007,0,-1004.58:1030:509:500:15440:15631 . . . . . 0/1:-615.521,0,-702.197:679:349:323:9768:10872 0/1:-915.789,0,-985.159:993:504:479:14556:15458 . 0/1:-737.38,0,-878.527:840:437:386:11697:13466 0/1:-1007.64,0,-1144.73:1095:559:521:16064:17361 0/1:-742.478,0,-1173.05:978:562:397:12276:17466 0/1:-984.534,0,-1104.32:1072:554:502:15603:17112 . 0/1:-789.378,0,-960.259:835:446:380:12154:14059:446,380 . . 0/1:-430.911,0,-482.434:445:229:211:6586:7231:229,211 1/1:-1922.19,-187.941,0:739:12:722:22987:392:12,722 . 0/1:-628.729,0,-874.831:742:416:314:9955:13033:416,314 . . . 1/1:-2171.68,-222.48,0:818:8:804:25704:262:8,804 1/1:-1783.46,-187.9,0:684:7:669:21096:202:7,669 0/1:-653.405,0,-862.911:727:401:323:10251:12685:401,323 . . 0/1:-766.157,0,-904.705:818:439:372:11824:13623:439,372 . . 0/1:-714.101,0,-880.225:766:408:347:10980:13151:408,347 . chr3 196792163 . C T 5654.24 . AB=0.388669;ABP=84.7223;AC=1;AF=0.5;AN=2;AO=295;CIGAR=1X;DP=759;DPB=759;DPRA=0;EPP=32.2258;EPPR=3.31507;GTI=0;LEN=1;MEANALT=3;MQM=39.9898;MQMR=40.9518;NS=1;NUMALT=1;ODDS=1301.94;PAIRED=0.925424;PAIREDR=0.980263;PAO=0;PQA=0;PQR=0;PRO=0;QA=9482;QR=14584;RO=456;RPL=138;RPP=5.66759;RPPR=17.9439;RPR=157;RUN=1;SAF=179;SAP=32.2258;SAR=116;SF=1;SRF=248;SRP=10.6295;SRR=208;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon18:c.G2042A:p.R681Q,DLG1:NM_001204387:exon19:c.G2078A:p.R693Q,DLG1:NM_001204386:exon22:c.G2354A:p.R785Q,DLG1:NM_001098424:exon23:c.G2390A:p.R797Q,DLG1:NM_001290983:exon23:c.G2390A:p.R797Q,DLG1:NM_004087:exon23:c.G2456A:p.R819Q;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0245;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0245;1000g2015aug_all=0.00419329;avsnp147=rs78190191;Kaviar_AF=0.0165781;Kaviar_AC=2563;Kaviar_AN=154602;ExAC_ALL=0.0173;ExAC_AFR=0.0040;ExAC_AMR=0.0052;ExAC_EAS=0.0003;ExAC_FIN=0.0268;ExAC_NFE=0.0247;ExAC_OTH=0.0235;ExAC_SAS=0.0085;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.716;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.365;MutationAssessor_pred=L;FATHMM_score=0.88;FATHMM_pred=T;PROVEAN_score=-2.85;PROVEAN_pred=D;VEST3_score=0.227;CADD_raw=7.123;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.041;MetaSVM_pred=T;MetaLR_score=0.074;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.32;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.971;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=11.454;GDI_full_10282015=.;dpsi_max_tissue=0.0178;dpsi_zscore=0.121;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM161900#"Macrocephaly_autism-epilepsy_phenotype";gnomAD_exome_ALL=0.0166;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0061;gnomAD_exome_EAS=5.916e-05;gnomAD_exome_FIN=0.0308;gnomAD_exome_NFE=0.0250;gnomAD_exome_OTH=0.0162;gnomAD_exome_SAS=0.0072;gnomAD_genome_ALL=0.0166;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0264;gnomAD_genome_NFE=0.0240;gnomAD_genome_OTH=0.0286;Whole_Blood=.;Liver=Liver::0.0196078::0.791198;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-586.636,0,-1038.58:759:456:295:9482:14584:456,295 chr3 196792663 . C A 6501.77 . AB=0.486698;ABP=3.99239;AC=2;AF=0.5;AN=4;AO=311;CIGAR=1X;DP=1452;DPB=639;DPRA=0;EPP=7.37419;EPPR=4.94124;GTI=0;LEN=1;MEANALT=2;MQM=40.1383;MQMR=40.4554;NS=1;NUMALT=1;ODDS=1353.19;PAIRED=0.977492;PAIREDR=0.975385;PAO=0;PQA=0;PQR=0;PRO=0;QA=9099;QR=9716;RO=325;RPL=178;RPP=17.1493;RPPR=34.8207;RPR=133;RUN=1;SAF=165;SAP=5.53088;SAR=146;SF=0;SRF=158;SRP=3.5515;SRR=167;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon17:c.G1801T:p.V601L,DLG1:NM_001204387:exon18:c.G1837T:p.V613L,DLG1:NM_001204386:exon21:c.G2113T:p.V705L,DLG1:NM_001098424:exon22:c.G2149T:p.V717L,DLG1:NM_001290983:exon22:c.G2149T:p.V717L,DLG1:NM_004087:exon22:c.G2215T:p.V739L;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0014;1000g2015aug_all=0.000798722;avsnp147=rs148283553;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0016;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0011;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.817;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.13;MutationAssessor_pred=L;FATHMM_score=1.03;FATHMM_pred=T;PROVEAN_score=-2.45;PROVEAN_pred=N;VEST3_score=0.875;CADD_raw=6.053;CADD_phred=28.0;DANN_score=0.997;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.162;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.43;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=18.231;GDI_full_10282015=.;dpsi_max_tissue=-1.6420;dpsi_zscore=-1.774;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.501e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-597.387,0,-650.381:639:325:311:9099:9716 . . . . . . . . . . . . 0/1:-728.483,0,-897.863:813:421:388:11325:13092 . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 196807928 . A C 4159.66 . AB=0.528689;ABP=6.49889;AC=4;AF=0.5;AN=8;AO=258;CIGAR=1X;DP=2009;DPB=488;DPRA=0;EPP=158.683;EPPR=90.0203;GTI=0;LEN=1;MEANALT=1;MQM=40.4806;MQMR=40.4783;NS=1;NUMALT=1;ODDS=945.893;PAIRED=0.984496;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7322;QR=6684;RO=230;RPL=128;RPP=3.04397;RPPR=11.5074;RPR=130;RUN=1;SAF=163;SAP=41.9285;SAR=95;SF=0;SRF=159;SRP=76.1228;SRR=71;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon13:c.T1650G:p.D550E,DLG1:NM_001204388:exon13:c.T1650G:p.D550E,DLG1:NM_001204386:exon17:c.T1899G:p.D633E,DLG1:NM_001098424:exon18:c.T1998G:p.D666E,DLG1:NM_001290983:exon18:c.T1998G:p.D666E,DLG1:NM_004087:exon18:c.T1998G:p.D666E;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.01;esp6500siv2_ea=0.0134;esp6500siv2_all=0.01;esp6500siv2_ea=0.0134;1000g2015aug_all=0.00559105;avsnp147=rs35430440;Kaviar_AF=0.0076713;Kaviar_AC=1186;Kaviar_AN=154602;ExAC_ALL=0.0073;ExAC_AFR=0.0022;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0.0056;ExAC_NFE=0.0109;ExAC_OTH=0.0056;ExAC_SAS=0.0009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.194;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-1.6;FATHMM_pred=D;PROVEAN_score=-0.54;PROVEAN_pred=N;VEST3_score=0.029;CADD_raw=1.923;CADD_phred=15.73;DANN_score=0.978;fathmm-MKL_coding_score=0.568;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.903;MetaSVM_pred=T;MetaLR_score=0.118;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.47;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.157;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=4.871;GDI_full_10282015=.;dpsi_max_tissue=-1.1704;dpsi_zscore=-1.565;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0074;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0072;gnomAD_exome_ASJ=0.0030;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0046;gnomAD_exome_NFE=0.0119;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0065;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0103;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-489.629,0,-435.672:488:230:258:7322:6684 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-511.852,0,-532.494:553:277:276:7764:8035 . . . . . . . . . . . . . 0/1:-418.49,0,-509.111:504:264:239:6578:7641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-350.766,0,-524.927:464:258:205:5698:7691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 196808026 . A C 3229.56 . AB=0.471698;ABP=5.22274;AC=2;AF=0.5;AN=4;AO=150;CIGAR=1X;DP=787;DPB=318;DPRA=0;EPP=39.2015;EPPR=51.3938;GTI=0;LEN=1;MEANALT=2;MQM=40.2867;MQMR=40.2455;NS=1;NUMALT=1;ODDS=687.849;PAIRED=0.98;PAIREDR=0.97006;PAO=0;PQA=0;PQR=0;PRO=0;QA=4697;QR=5347;RO=167;RPL=92;RPP=19.7451;RPPR=3.64744;RPR=58;RUN=1;SAF=72;SAP=3.53145;SAR=78;SF=0;SRF=94;SRP=8.74455;SRR=73;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs201168091;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1053;dpsi_zscore=0.499;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=6.391e-05;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-311.228,0,-366.306:318:167:150:4697:5347 . . . . . . . . . 0/1:-360.065,0,-595.599:469:267:196:5834:8508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 196817911 . AAGA AA 3297.76 . AB=0.476615;ABP=5.14308;AC=1;AF=0.5;AN=2;AO=214;CIGAR=1M2D1M;DP=449;DPB=340.5;DPRA=0;EPP=24.4815;EPPR=57.5561;GTI=0;LEN=2;MEANALT=10;MQM=40.5374;MQMR=41.2202;NS=1;NUMALT=1;ODDS=759.338;PAIRED=0.971963;PAIREDR=0.96789;PAO=0;PQA=0;PQR=0;PRO=0;QA=5438;QR=6474;RO=218;RPL=152;RPP=85.2015;RPPR=60.5444;RPR=62;RUN=1;SAF=106;SAP=3.05089;SAR=108;SF=0;SRF=115;SRP=4.44467;SRR=103;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-347.588,0,-441.621:449:218:214:5438:6474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 196842808 . C T 5734.03 . AB=0.500873;ABP=3.01409;AC=1;AF=0.5;AN=2;AO=287;CIGAR=1X;DP=573;DPB=573;DPRA=0;EPP=3.07839;EPPR=3.78033;GTI=0;LEN=1;MEANALT=3;MQM=40.0244;MQMR=39.9113;NS=1;NUMALT=1;ODDS=1299.89;PAIRED=0.986063;PAIREDR=0.950355;PAO=0;PQA=0;PQR=0;PRO=0;QA=8711;QR=8682;RO=282;RPL=151;RPP=4.71267;RPPR=4.11914;RPR=136;RUN=1;SAF=124;SAP=14.5183;SAR=163;SF=0;SRF=131;SRP=6.0904;SRR=151;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon9:c.G1184A:p.R395H,DLG1:NM_001204388:exon9:c.G1184A:p.R395H,DLG1:NM_001204386:exon13:c.G1433A:p.R478H,DLG1:NM_001098424:exon14:c.G1532A:p.R511H,DLG1:NM_001290983:exon14:c.G1532A:p.R511H,DLG1:NM_004087:exon14:c.G1532A:p.R511H;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs748649814;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.473e-05;ExAC_AFR=9.63e-05;ExAC_AMR=8.642e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.988;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.875;MutationAssessor_pred=L;FATHMM_score=1.53;FATHMM_pred=T;PROVEAN_score=-1.9;PROVEAN_pred=N;VEST3_score=0.732;CADD_raw=7.410;CADD_phred=34;DANN_score=1.000;fathmm-MKL_coding_score=0.920;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.832;MetaSVM_pred=T;MetaLR_score=0.183;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=18.39;GDI_full_10282015=.;dpsi_max_tissue=-0.0951;dpsi_zscore=-0.434;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.228e-05;gnomAD_exome_AFR=6.592e-05;gnomAD_exome_AMR=3.015e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.003e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-582.197,0,-572.485:573:282:287:8711:8682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 196865242 . C T 2580.67 . AB=0.547231;ABP=8.95886;AC=46;AF=0.5;AN=88;AO=168;CIGAR=1X;DP=12860;DPB=307;DPRA=0;EPP=77.6676;EPPR=65.9196;GTI=0;LEN=1;MEANALT=3;MQM=38.8274;MQMR=40.0876;NS=1;NUMALT=1;ODDS=579.269;PAIRED=0.97619;PAIREDR=0.963504;PAO=0;PQA=0;PQR=0;PRO=0;QA=5402;QR=4361;RO=137;RPL=146;RPP=201.752;RPPR=122.98;RPR=22;RUN=1;SAF=44;SAP=85.7331;SAR=124;SF=0,1;SRF=40;SRP=54.5075;SRR=97;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon5:c.G485A:p.R162Q,DLG1:NM_001204388:exon5:c.G485A:p.R162Q,DLG1:NM_001204386:exon9:c.G734A:p.R245Q,DLG1:NM_001098424:exon10:c.G833A:p.R278Q,DLG1:NM_001290983:exon10:c.G833A:p.R278Q,DLG1:NM_004087:exon10:c.G833A:p.R278Q;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.1060;esp6500siv2_ea=0.1473;esp6500siv2_all=0.1060;esp6500siv2_ea=0.1473;1000g2015aug_all=0.127995;avsnp147=rs1134986;Kaviar_AF=0.149519;Kaviar_AC=23116;Kaviar_AN=154602;ExAC_ALL=0.1550;ExAC_AFR=0.0282;ExAC_AMR=0.1292;ExAC_EAS=0.0719;ExAC_FIN=0.1064;ExAC_NFE=0.1487;ExAC_OTH=0.1762;ExAC_SAS=0.3404;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.24;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.955;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.545;MutationAssessor_pred=N;FATHMM_score=1.74;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_pred=N;VEST3_score=0.554;CADD_raw=4.417;CADD_phred=24.2;DANN_score=0.999;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.128;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.31;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.317;GDI_full_10282015=.;dpsi_max_tissue=-0.0569;dpsi_zscore=-0.295;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM146495#"Crohn's_disease_susceptibility_to";gnomAD_exome_ALL=0.1565;gnomAD_exome_AFR=0.0258;gnomAD_exome_AMR=0.1308;gnomAD_exome_ASJ=0.2342;gnomAD_exome_EAS=0.0742;gnomAD_exome_FIN=0.1084;gnomAD_exome_NFE=0.1455;gnomAD_exome_OTH=0.1557;gnomAD_exome_SAS=0.3393;gnomAD_genome_ALL=0.0995;gnomAD_genome_AFR=0.0278;gnomAD_genome_AMR=0.1361;gnomAD_genome_ASJ=0.21;gnomAD_genome_EAS=0.0606;gnomAD_genome_FIN=0.1052;gnomAD_genome_NFE=0.1379;gnomAD_genome_OTH=0.1313;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-358.824,0,-283.011:307:137:168:5402:4361 . 0/1:-301.817,0,-445.243:353:198:151:4898:6513 0/1:-178.054,0,-264.444:202:117:85:2782:3828 . . . . 0/1:-357.847,0,-286.264:308:142:164:5281:4465 . . . . . 0/1:-377.278,0,-400.182:372:192:175:5621:5991 0/1:-403.295,0,-468.658:421:216:198:6339:6927 . . 0/1:-291.988,0,-402.14:345:192:152:4724:5903 . . 0/1:-349.472,0,-409.779:368:190:172:5461:6071 . 0/1:-331.247,0,-312.242:296:147:148:4916:4798 . . 0/1:-275.845,0,-318.585:278:142:134:4319:4672 0/1:-305.732,0,-511.904:376:221:150:4850:7365 . 0/1:-185.191,0,-306.618:227:135:92:2973:4318 . . 0/1:-299.458,0,-414.901:338:185:147:4814:6121 . . 0/1:-316.365,0,-504.299:385:225:157:5147:7232 . . . . . 0/1:-249.95,0,-337.839:276:152:123:4043:4929 . . . . 0/1:-316.137,0,-315.415:297:146:148:4838:4802 . . 0/1:-314.259,0,-439.846:353:193:157:5051:6341 0/1:-255.663,0,-486.781:336:207:125:4147:6784 . 0/1:-326.891,0,-389.848:346:177:165:5324:5674 0/1:-394.407,0,-368.644:362:175:184:5893:5632 . . 0/1:-240.323,0,-354.912:280:161:116:3797:5176 . . 0/1:-216.825,0,-328.935:258:149:108:3512:4774 . 1/1:-956.422,-92.8434,0:363:6:355:11553:178 . . . . . 0/1:-316.813,0,-490.648:380:221:155:5109:7148 0/1:-161.109,0,-249.657:200:111:86:2810:3611 . 0/1:-260.12,0,-320.162:283:148:133:4299:4681 0/1:-343.08,0,-419.912:347:183:159:5201:6142 . . 0/1:-309.658,0,-319.964:292:150:140:4634:4776 . 0/1:-282.222,0,-392.212:318:177:136:4474:5760 . 0/1:-209.393,0,-330.522:258:148:107:3499:4821 0/1:-281.001,0,-392.896:313:169:140:4497:5644 0/1:-323.622,0,-356.335:324:167:152:4921:5312 . 0/1:-402.367,0,-472.839:403:208:193:6134:6853 . . . . . 0/1:-164.135,0,-370.689:243:156:85:2834:5211 . . . 0/1:-455.278,0,-437.869:434:207:222:6863:6785 0/1:-284.627,0,-462.651:353:205:145:4646:6580 . . 0/1:-125.008,0,-197.086:144:83:59:1975:2765:83,59 . . 0/1:-86.8296,0,-122.148:93:52:41:1354:1715:52,41 0/1:-194.907,0,-193.066:175:89:85:2875:2811:89,85 . 0/1:-216.512,0,-194.24:179:83:94:3120:2854:83,94 . . . 0/1:-195.559,0,-266.219:207:113:92:2930:3851:113,92 1/1:-322.94,-27.2191,0:123:3:120:3855:108:3,120 . . . 0/1:-166.789,0,-230.448:182:100:80:2542:3259:100,80 . . 0/1:-139.631,0,-203.441:162:90:69:2185:2934:90,69 . chr3 196869570 . TTAAGAT TT 2253.72 . AB=0.366197;ABP=91.3372;AC=1;AF=0.5;AN=2;AO=208;CIGAR=1M5D1M;DP=568;DPB=430.429;DPRA=0;EPP=148.374;EPPR=237;GTI=0;LEN=5;MEANALT=15;MQM=37.7115;MQMR=39.6555;NS=1;NUMALT=1;ODDS=518.938;PAIRED=0.975962;PAIREDR=0.97561;PAO=4;PQA=114.5;PQR=793.5;PRO=26;QA=5103;QR=10742;RO=328;RPL=71;RPP=48.4859;RPPR=80.23;RPR=137;RUN=1;SAF=150;SAP=91.3725;SAR=58;SF=0;SRF=220;SRP=86.0559;SRR=108;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-267.541,0,-803.118:568:328:208:5103:10742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr3 196869688 . A G 11849.08 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=541;CIGAR=1X;DP=59265;DPB=553;DPRA=0;EPP=30.6615;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=39.8022;MQMR=33;NS=1;NUMALT=1;ODDS=742.292;PAIRED=0.981516;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=14811;QR=28;RO=2;RPL=316;RPP=36.2487;RPPR=7.35324;RPR=225;RUN=1;SAF=327;SAP=54.2627;SAR=214;SF=0,1;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.9955;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9955;esp6500siv2_ea=0.9999;1000g2015aug_all=0.993211;avsnp147=rs7628652;Kaviar_AF=0.944309;Kaviar_AC=145992;Kaviar_AN=154602;ExAC_ALL=0.9987;ExAC_AFR=0.9849;ExAC_AMR=0.9994;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5436;dpsi_zscore=1.798;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9988;gnomAD_exome_AFR=0.9837;gnomAD_exome_AMR=0.9994;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=0.9996;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9956;gnomAD_genome_AFR=0.9846;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=0.9980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1278.86,-160.975,0:553:2:541:14811:28 1/1:-1428.56,-178.4,0:620:1:602:16379:36 1/1:-1259.81,-160.996,0:557:1:538:14520:14 1/1:-820.682,-106.209,0:368:1:356:9440:14 1/1:-1162.25,-149.858,0:518:1:501:13314:14 1/1:-1328.63,-164.944,0:567:3:554:15254:42 1/1:-1264.49,-160.69,0:554:2:538:14620:28 1/1:-1139.1,-141.73,0:496:1:474:13200:14 1/1:-902.081,-115.843,0:407:1:388:10492:14 1/1:-1365.35,-167.551,0:584:3:570:15880:55 1/1:-1172.45,-143.224,0:498:2:486:13570:41 1/1:-1318.47,-162.37,0:580:3:554:15219:60 1/1:-1310.32,-163.76,0:559:0:544:15044:0 1/1:-1112.72,-143.571,0:500:1:480:12900:14 1/1:-1078.4,-140.225,0:490:1:469:12481:14 1/1:-1576.24,-200.523,0:688:1:666:18180:32 1/1:-1109.85,-138.419,0:473:1:463:12724:14 1/1:-2112.21,-269.121,0:928:0:894:24181:0 1/1:-1270.21,-160.731,0:548:1:537:14608:14 1/1:-786.363,-102.651,0:357:0:341:9035:0 1/1:-912.666,-112.886,0:385:0:375:10472:0 1/1:-1388.94,-177.006,0:609:0:588:16078:0 1/1:-832.919,-110.458,0:396:1:370:9716:14 1/1:-1302.23,-166.717,0:572:1:557:14927:14 1/1:-1314.47,-169.159,0:587:1:565:15228:14 1/1:-1096.98,-138.701,0:493:2:467:12721:28 1/1:-1089.73,-136.915,0:472:1:458:12650:14 1/1:-1405.82,-172.864,0:618:4:597:16295:91 1/1:-871.598,-109.503,0:384:2:370:10102:28 1/1:-780.497,-101.447,0:350:0:337:9012:0 1/1:-1168.51,-152.622,0:522:0:507:13588:0 1/1:-1653.18,-211.022,0:728:0:701:19068:0 1/1:-1264.17,-157.026,0:545:2:528:14602:28 1/1:-1058.75,-137.571,0:474:0:457:12137:0 1/1:-1276.98,-161.879,0:565:2:544:14744:28 1/1:-1419.29,-176.008,0:609:2:589:16267:28 1/1:-942.646,-121.315,0:417:0:403:10813:0 1/1:-1544.69,-190.492,0:657:2:637:17707:28 1/1:-1066.26,-136.028,0:487:3:465:12394:55 1/1:-770.059,-95.6712,0:333:1:321:8882:14 1/1:-1574.85,-195.048,0:677:1:651:18068:14 1/1:-919.56,-118.194,0:416:3:400:10598:42 1/1:-1200.19,-150.604,0:525:2:513:13792:50 1/1:-1193.18,-150.214,0:520:0:499:13686:0 1/1:-1650.13,-205.844,0:720:3:690:19061:42 1/1:-1468.61,-187.788,0:649:1:627:16872:14 1/1:-1012.77,-131.55,0:462:0:437:11673:0 1/1:-616.713,-77.8545,0:278:2:265:7162:28 1/1:-991.18,-128.54,0:447:0:427:11491:0 1/1:-1344.05,-167.782,0:597:5:573:15597:70 1/1:-1210.37,-150.211,0:522:2:502:13948:28 1/1:-1296.8,-160.34,0:551:2:539:14905:28 1/1:-1497.87,-190.501,0:667:2:637:17299:28 1/1:-1320.71,-165.202,0:575:2:555:15184:28 1/1:-1064.58,-138.775,0:478:0:461:12267:0 1/1:-1052.22,-133.958,0:459:0:445:12094:0 1/1:-1048.27,-136.026,0:472:1:453:12204:14 1/1:-886.571,-114.09,0:387:0:379:10297:0 1/1:-770.392,-96.3099,0:337:1:323:8882:14 1/1:-922.187,-114.993,0:397:0:382:10575:0 1/1:-731.642,-98.3809,0:343:1:330:8515:14 1/1:-1382.69,-175.993,0:613:2:591:15960:28 1/1:-831.106,-106.255,0:366:1:356:9531:14 1/1:-1068.63,-138.225,0:479:1:459:12260:14 1/1:-1558,-198.68,0:685:0:660:17950:0 1/1:-1200.62,-152.868,0:528:1:511:13923:14 1/1:-836.908,-106.757,0:377:2:361:9771:28 1/1:-1598.42,-199.884,0:686:0:664:18325:0 1/1:-861.662,-110.068,0:389:2:372:9842:28 1/1:-1085.86,-138.964,0:484:2:468:12473:28 1/1:-1027.93,-130.091,0:452:2:440:11892:35 1/1:-1564.26,-194.465,0:663:0:646:17859:0 1/1:-1789.5,-224.208,0:775:2:749:20522:28 1/1:-787.322,-104.653,0:374:3:355:9077:42 1/1:-1216.62,-149.201,0:515:2:502:13948:28 1/1:-1345.88,-172.018,0:602:3:579:15466:49 1/1:-1196.46,-150.515,0:514:0:500:13779:0 1/1:-1276.36,-162.697,0:580:2:553:14685:50 1/1:-939.829,-116.948,0:409:2:393:10802:35 1/1:-853.722,-110.779,0:377:0:368:9832:0 1/1:-1219.75,-151.646,0:529:3:513:14086:42 1/1:-1387.06,-178.81,0:617:2:597:16004:28 1/1:-1240.94,-158.286,0:548:1:529:14237:14 1/1:-1144.77,-141.577,0:502:2:483:13171:50 1/1:-931.02,-121.971,0:421:1:405:10823:14 1/1:-916.32,-118.305,0:416:0:393:10581:0 1/1:-974.141,-120.995,0:416:1:405:11241:14 1/1:-1389.55,-174.187,0:599:2:585:15994:28 1/1:-802.709,-100.845,0:342:0:335:9166:0 1/1:-1457.85,-179.046,0:628:2:601:16725:28 1/1:-1675.07,-211.819,0:744:3:715:19395:49 1/1:-905.475,-118.25,0:407:1:396:10381:14 1/1:-1632.27,-204.645,0:705:1:683:18720:14 1/1:-1030.33,-128.377,0:446:1:436:11882:36 1/1:-1282.39,-158.187,0:551:1:535:14860:36 . 1/1:-1004.67,-109.263,0:376:3:369:11560:42:3,369 1/1:-1420.86,-162.255,0:547:0:539:16203:0:0,539 1/1:-1780.76,-203.797,0:683:0:677:20366:0:0,677 1/1:-688.345,-75.6998,0:270:1:261:7929:36:1,261 1/1:-1183.07,-137.872,0:465:0:458:13637:0:0,458 1/1:-1663.24,-187.063,0:645:2:634:19088:50:2,634 1/1:-1452.26,-167.331,0:565:1:559:16765:14:1,559 1/1:-1504.57,-170.334,0:577:1:569:17285:14:1,569 1/1:-1268.2,-142.368,0:486:1:476:14538:14:1,476 1/1:-1100.04,-123.704,0:420:1:414:12605:14:1,414 1/1:-1399.29,-158.944,0:533:0:528:15962:0:0,528 1/1:-1046.25,-118.305,0:401:0:393:11904:0:0,393 1/1:-1112.14,-126.257,0:435:1:429:12754:36:1,429 1/1:-1318.29,-147.204,0:500:0:489:15038:0:0,489 1/1:-1330.95,-150.809,0:511:1:504:15235:14:1,504 1/1:-1331.04,-149.148,0:518:3:505:15297:42:3,505 1/1:-1806.09,-202.54,0:692:1:676:20665:14:1,676 1/1:-1341.17,-150.816,0:514:0:501:15292:0:0,501 1/1:-1235.99,-140.28,0:470:0:466:14164:0:0,466 1/1:-1034.66,-115.964,0:391:1:385:11847:14:1,385 chr3 196876600 . G A 10321.15 . AB=0.479361;ABP=5.78898;AC=37;AF=0.5;AN=66;AO=360;CIGAR=1X;DP=31418;DPB=751;DPRA=0;EPP=36.0408;EPPR=30.5793;GTI=0;LEN=1;MEANALT=3;MQM=39.6028;MQMR=40.6107;NS=1;NUMALT=1;ODDS=1503.25;PAIRED=0.980556;PAIREDR=0.981333;PAO=0;PQA=0;PQR=0;PRO=0;QA=10527;QR=11102;RO=375;RPL=256;RPP=142.371;RPPR=69.3068;RPR=104;RUN=1;SAF=195;SAP=8.43898;SAR=165;SF=0,1;SRF=204;SRP=9.31626;SRR=171;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.1490;esp6500siv2_ea=0.1783;esp6500siv2_all=0.1490;esp6500siv2_ea=0.1783;1000g2015aug_all=0.0766773;avsnp147=rs73210523;Kaviar_AF=0.135134;Kaviar_AC=20892;Kaviar_AN=154602;ExAC_ALL=0.1336;ExAC_AFR=0.0861;ExAC_AMR=0.0771;ExAC_EAS=0.0198;ExAC_FIN=0.1602;ExAC_NFE=0.1784;ExAC_OTH=0.1333;ExAC_SAS=0.0712;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1708;dpsi_zscore=0.663;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1326;gnomAD_exome_AFR=0.0879;gnomAD_exome_AMR=0.0822;gnomAD_exome_ASJ=0.2086;gnomAD_exome_EAS=0.0199;gnomAD_exome_FIN=0.1667;gnomAD_exome_NFE=0.1725;gnomAD_exome_OTH=0.1565;gnomAD_exome_SAS=0.0739;gnomAD_genome_ALL=0.1381;gnomAD_genome_AFR=0.0895;gnomAD_genome_AMR=0.1017;gnomAD_genome_ASJ=0.2252;gnomAD_genome_EAS=0.0216;gnomAD_genome_FIN=0.1561;gnomAD_genome_NFE=0.1723;gnomAD_genome_OTH=0.1796;Whole_Blood=Whole_Blood::0.180217::-0.450364;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-678.78,0,-742.416:751:375:360:10527:11102 1/1:-2427.67,-233.007,0:1005:27:971:28945:790 0/1:-1161.28,0,-1218.91:1244:625:600:17649:18522 . . . . . 0/1:-956.277,0,-953.401:978:468:493:14450:14335 . . . . . . . . . 0/1:-1184.81,0,-1253.4:1265:637:605:18082:19008 1/1:-1595.52,-183.893,0:672:7:659:19124:200 . . 0/1:-751.736,0,-772.483:826:401:408:11851:11734 . 0/1:-1152.75,0,-1089.87:1121:536:565:17074:16438 . . 0/1:-835.207,0,-972.288:941:477:445:12779:14441 . . . 0/1:-923.981,0,-1118.18:1020:528:475:14222:16334 . . . 0/1:-940.487,0,-865.117:945:443:488:14303:13316 . . . . . . 0/1:-996.758,0,-1024.34:1067:519:525:15361:15487 . 0/1:-476.56,0,-668.435:589:324:259:7541:9696 0/1:-741.638,0,-863.305:840:423:402:11475:12683 . 0/1:-1013.2,0,-1090.81:1063:533:514:15335:16245 . . 0/1:-979.029,0,-1158.88:1108:574:515:15100:17209 . . 0/1:-917.859,0,-977.913:974:475:484:14127:14581 . . 0/1:-832.175,0,-785.479:844:391:435:12638:11973 . . . 1/1:-1676.65,-165.991,0:715:19:683:19944:512 . . . 0/1:-1132.45,0,-950.963:1054:476:566:16740:14543 . . . 0/1:-1160.75,0,-1294.36:1253:634:603:17705:19287 . 0/1:-586.345,0,-741.315:767:389:357:9567:11145 . 0/1:-1176.04,0,-1278.76:1258:635:608:18196:19064 . . . . . 1/1:-2593.71,-299.08,0:1053:8:1034:30570:187 . 0/1:-864.865,0,-858.49:903:435:449:13135:12989 . . . 0/1:-1073.33,0,-1119.11:1131:572:544:16364:16940 . . . . . . 0/1:-1092.23,0,-1278.47:1230:621:587:16989:18862 . . 0/1:-953.631,0,-816.742:828:378:441:13729:12161:378,441 . 0/1:-439.325,0,-561.432:491:258:222:6750:8145:258,222 . . 0/1:-936.828,0,-850.207:832:396:423:13643:12633:396,423 0/1:-1032.75,0,-938.508:927:444:474:15317:13953:444,474 . . . . . . 0/1:-885.874,0,-930.93:886:436:435:13414:13700:436,435 . 0/1:-838.425,0,-921.722:837:429:400:12482:13612:429,400 . . . chr3 196921360 . T C 4252.16 . AB=0.497553;ABP=3.04218;AC=13;AF=0.5;AN=26;AO=305;CIGAR=1X;DP=6585;DPB=613;DPRA=0;EPP=16.1744;EPPR=14.3602;GTI=0;LEN=1;MEANALT=3;MQM=40.4689;MQMR=41.0309;NS=1;NUMALT=1;ODDS=1311.22;PAIRED=0.967213;PAIREDR=0.975945;PAO=0;PQA=0;PQR=0;PRO=0;QA=8810;QR=9210;RO=291;RPL=205;RPP=81.5037;RPPR=82.1758;RPR=100;RUN=1;SAF=134;SAP=12.757;SAR=171;SF=0,1;SRF=125;SRP=15.5541;SRR=166;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001098424:exon5:c.A419G:p.K140R,DLG1:NM_001204386:exon5:c.A419G:p.K140R,DLG1:NM_001290983:exon5:c.A419G:p.K140R,DLG1:NM_004087:exon5:c.A419G:p.K140R;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0443;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0443;1000g2015aug_all=0.0145767;avsnp147=rs1802668;Kaviar_AF=0.0323476;Kaviar_AC=5001;Kaviar_AN=154602;ExAC_ALL=0.0327;ExAC_AFR=0.0084;ExAC_AMR=0.0219;ExAC_EAS=0.0002;ExAC_FIN=0.0475;ExAC_NFE=0.0470;ExAC_OTH=0.0489;ExAC_SAS=0.0082;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.338;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.043;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.385;MutationAssessor_pred=L;FATHMM_score=0.61;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.255;CADD_raw=2.040;CADD_phred=16.47;DANN_score=0.996;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.867;GDI_full_10282015=.;dpsi_max_tissue=1.2408;dpsi_zscore=1.657;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0308;gnomAD_exome_AFR=0.0069;gnomAD_exome_AMR=0.0170;gnomAD_exome_ASJ=0.0277;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0477;gnomAD_exome_NFE=0.0453;gnomAD_exome_OTH=0.0357;gnomAD_exome_SAS=0.0085;gnomAD_genome_ALL=0.0343;gnomAD_genome_AFR=0.0073;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0492;gnomAD_genome_NFE=0.0511;gnomAD_genome_OTH=0.0346;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . 0/1:-587.309,0,-624.319:613:291:305:8810:9210 . . . . . . . . . . 0/1:-338.597,0,-480.234:400:222:175:5272:6897 . . . . . 0/1:-603.83,0,-727.641:675:346:315:9290:10687 . . . . . 0/1:-357.756,0,-473.431:416:223:190:5608:6887 . . . . . . . 0/1:-506.204,0,-721.831:619:336:271:7944:10403 0/1:-598.484,0,-652.443:613:306:299:9014:9760 . 0/1:-613.728,0,-820.263:714:379:325:9484:11918 0/1:-513.663,0,-703.704:613:325:282:8092:10298 . . . . . . . 0/1:-570.206,0,-732.089:666:346:305:8804:10713 . . . . . . . . . . . . . . . . . 0/1:-353.405,0,-432.772:387:203:177:5369:6361 0/1:-560.656,0,-650.985:619:315:291:8610:9625 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-138.124,0,-199.906:159:89:67:2110:2892:89,67 0/1:-92.4568,0,-93.9599:91:45:46:1376:1421:45,46 . . . . . . . . chr4 114120284 . C T 3558.93 . AB=0.396146;ABP=46.7606;AC=4;AF=0.5;AN=8;AO=185;CIGAR=1X;DP=1688;DPB=467;DPRA=0;EPP=22.7414;EPPR=103.838;GTI=0;LEN=1;MEANALT=3;MQM=39.8378;MQMR=40.6909;NS=1;NUMALT=1;ODDS=784.286;PAIRED=0.978378;PAIREDR=0.967273;PAO=0;PQA=0;PQR=0;PRO=0;QA=5727;QR=8996;RO=275;RPL=101;RPP=6.40249;RPPR=32.3923;RPR=84;RUN=1;SAF=84;SAP=6.40249;SAR=101;SF=0,1;SRF=165;SRP=26.8965;SRR=110;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0212;esp6500siv2_ea=0.0293;esp6500siv2_all=0.0212;esp6500siv2_ea=0.0293;1000g2015aug_all=0.0253594;avsnp147=rs45502093;Kaviar_AF=0.029508;Kaviar_AC=4562;Kaviar_AN=154602;ExAC_ALL=0.0303;ExAC_AFR=0.0049;ExAC_AMR=0.0350;ExAC_EAS=0.0536;ExAC_FIN=0.0448;ExAC_NFE=0.0343;ExAC_OTH=0.0301;ExAC_SAS=0.0090;CLNALLELEID=44353;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0979;dpsi_zscore=-0.442;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0310;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.0332;gnomAD_exome_ASJ=0.0047;gnomAD_exome_EAS=0.0593;gnomAD_exome_FIN=0.0425;gnomAD_exome_NFE=0.0358;gnomAD_exome_OTH=0.0290;gnomAD_exome_SAS=0.0083;gnomAD_genome_ALL=0.0317;gnomAD_genome_AFR=0.0069;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0587;gnomAD_genome_FIN=0.0425;gnomAD_genome_NFE=0.0413;gnomAD_genome_OTH=0.0369;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-354.232,0,-637.818:467:275:185:5727:8996 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-442.711,0,-521.186:470:241:224:6794:7676 0/1:-361.08,0,-538.272:431:247:179:5677:7921 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-293.281,0,-387.55:320:176:139:4505:5559:176,139 . . . . . chr4 114161619 . T C 7001.32 . AB=0.454144;ABP=19.5399;AC=1;AF=0.5;AN=2;AO=411;CIGAR=1X;DP=905;DPB=905;DPRA=0;EPP=48.7063;EPPR=41.7853;GTI=0;LEN=1;MEANALT=2;MQM=38.292;MQMR=39.4831;NS=1;NUMALT=1;ODDS=1612.11;PAIRED=0.919708;PAIREDR=0.957806;PAO=0;PQA=0;PQR=0;PRO=0;QA=12077;QR=15080;RO=474;RPL=120;RPP=157.502;RPPR=85.2697;RPR=291;RUN=1;SAF=282;SAP=126.689;SAR=129;SF=0;SRF=317;SRP=120.288;SRR=157;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0116;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0116;1000g2015aug_all=0.00279553;avsnp147=rs45616931;Kaviar_AF=0.007626;Kaviar_AC=1179;Kaviar_AN=154602;ExAC_ALL=0.0072;ExAC_AFR=0.0023;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0110;ExAC_OTH=0.0022;ExAC_SAS=0.0055;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0999;dpsi_zscore=1.580;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0071;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0024;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0021;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0058;gnomAD_exome_SAS=0.0052;gnomAD_genome_ALL=0.0068;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-742.017,0,-1004.36:905:474:411:12077:15080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114161754 . A G 10223.70 . AB=0.461369;ABP=20.6265;AC=1;AF=0.5;AN=2;AO=627;CIGAR=1X;DP=1359;DPB=1359;DPRA=0;EPP=364.33;EPPR=286.745;GTI=0;LEN=1;MEANALT=3;MQM=39.8915;MQMR=40.6519;NS=1;NUMALT=1;ODDS=2354.1;PAIRED=0.980861;PAIREDR=0.974212;PAO=0;PQA=0;PQR=0;PRO=0;QA=16947;QR=20917;RO=698;RPL=358;RPP=30.4429;RPPR=52.4004;RPR=269;RUN=1;SAF=360;SAP=32.9642;SAR=267;SF=0;SRF=426;SRP=76.7906;SRR=272;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000199681;avsnp147=rs375914552;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=368850;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3715;dpsi_zscore=0.986;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1074.96,0,-1419.75:1359:698:627:16947:20917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114186067 . A G 3938.33 . AB=0.480315;ABP=4.72012;AC=1;AF=0.5;AN=2;AO=244;CIGAR=1X;DP=508;DPB=508;DPRA=0;EPP=3.33068;EPPR=7.28263;GTI=0;LEN=1;MEANALT=3;MQM=34.2172;MQMR=34.439;NS=1;NUMALT=1;ODDS=906.833;PAIRED=0.901639;PAIREDR=0.882114;PAO=0;PQA=0;PQR=0;PRO=0;QA=7061;QR=7216;RO=246;RPL=102;RPP=17.2495;RPPR=5.87029;RPR=142;RUN=1;SAF=119;SAP=3.33068;SAR=125;SF=0;SRF=106;SRP=13.2145;SRR=140;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon14:c.A1401G:p.A467A,ANK2:NM_020977:exon14:c.A1401G:p.A467A,ANK2:NM_001127493:exon15:c.A1338G:p.A446A;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0040;1000g2015aug_all=0.00159744;avsnp147=rs142159132;Kaviar_AF=0.0017464;Kaviar_AC=270;Kaviar_AN=154602;ExAC_ALL=0.0042;ExAC_AFR=0.0010;ExAC_AMR=0.0162;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0076;ExAC_OTH=0.0047;ExAC_SAS=0.0006;CLNALLELEID=239302;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.2330;dpsi_zscore=2.041;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0084;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0035;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-402.643,0,-410.038:508:246:244:7061:7216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114195737 . C T 6226.42 . AB=0.431522;ABP=40.4824;AC=1;AF=0.5;AN=2;AO=397;CIGAR=1X;DP=920;DPB=920;DPRA=0;EPP=6.42886;EPPR=4.14017;GTI=0;LEN=1;MEANALT=3;MQM=37.0302;MQMR=38.6077;NS=1;NUMALT=1;ODDS=1433.69;PAIRED=0.93199;PAIREDR=0.926829;PAO=0;PQA=0;PQR=0;PRO=0;QA=10906;QR=14811;RO=492;RPL=175;RPP=15.0929;RPPR=4.44029;RPR=222;RUN=1;SAF=200;SAP=3.05953;SAR=197;SF=0;SRF=239;SRP=3.87536;SRR=253;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon15:c.C1615T:p.R539W,ANK2:NM_020977:exon15:c.C1615T:p.R539W,ANK2:NM_001127493:exon16:c.C1552T:p.R518W;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756495481;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.649e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.999e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=188347;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.235;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-7.03;PROVEAN_pred=D;VEST3_score=0.944;CADD_raw=7.219;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.402;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.314;MetaSVM_pred=T;MetaLR_score=0.376;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=2.2;phyloP7way_vertebrate=-0.444;phyloP20way_mammalian=-0.571;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.984;SiPhy_29way_logOdds=15.855;GDI_full_10282015=.;dpsi_max_tissue=-2.0617;dpsi_zscore=-1.920;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.068e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.288e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-634.168,0,-982.752:920:492:397:10906:14811 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114208877 . C T 15027.70 . AB=0.445087;ABP=48.3225;AC=1;AF=0.5;AN=2;AO=770;CIGAR=1X;DP=1730;DPB=1730;DPRA=0;EPP=61.4878;EPPR=80.1264;GTI=0;LEN=1;MEANALT=3;MQM=40.4662;MQMR=40.895;NS=1;NUMALT=1;ODDS=3460.25;PAIRED=0.974026;PAIREDR=0.965005;PAO=0;PQA=0;PQR=0;PRO=0;QA=23555;QR=29645;RO=943;RPL=465;RPP=75.2047;RPPR=58.3333;RPR=305;RUN=1;SAF=364;SAP=7.98495;SAR=406;SF=1;SRF=443;SRP=10.4919;SRR=500;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0008;1000g2015aug_all=0.00339457;avsnp147=rs45447896;Kaviar_AF=0.0020634;Kaviar_AC=319;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0177;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0011;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=512812;CLNDN=Cardiac_arrhythmia,_ankyrin_B-related;CLNDISDB=MedGen:C1970119,OMIM:600919;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0512;dpsi_zscore=-0.271;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0186;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0129;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=9.799e-05;gnomAD_genome_ALL=0.0061;gnomAD_genome_AFR=0.0198;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1528.54,0,-2055.72:1730:943:770:23555:29645:943,770 . . . . . . . . . . . . . . . . . . . chr4 114209651 . C T 3727.33 . AB=0.477642;ABP=5.14646;AC=2;AF=0.5;AN=4;AO=235;CIGAR=1X;DP=928;DPB=492;DPRA=0;EPP=5.08937;EPPR=3.08879;GTI=0;LEN=1;MEANALT=3;MQM=39.0936;MQMR=40.8835;NS=1;NUMALT=1;ODDS=1060.79;PAIRED=0.970213;PAIREDR=0.959839;PAO=0;PQA=0;PQR=0;PRO=0;QA=7283;QR=7830;RO=249;RPL=159;RPP=66.6668;RPPR=102.854;RPR=76;RUN=1;SAF=103;SAP=10.7814;SAR=132;SF=0;SRF=106;SRP=14.949;SRR=143;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0034;1000g2015aug_all=0.000998403;avsnp147=rs141965666;Kaviar_AF=0.0028654;Kaviar_AC=443;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0006;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0023;ExAC_NFE=0.0046;ExAC_OTH=0.0033;ExAC_SAS=0.0016;CLNALLELEID=239303;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.0287;dpsi_zscore=1.977;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0027;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0041;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0035;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-475.533,0,-532.87:492:249:235:7283:7830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-302.631,0,-598.956:436:266:164:5063:8380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114213551 . C T 4667.92 . AB=0.45799;ABP=12.3151;AC=3;AF=0.5;AN=6;AO=278;CIGAR=1X;DP=2164;DPB=607;DPRA=0;EPP=5.00993;EPPR=9.85222;GTI=0;LEN=1;MEANALT=3;MQM=35.9101;MQMR=36.4787;NS=1;NUMALT=1;ODDS=965.134;PAIRED=0.931655;PAIREDR=0.895082;PAO=0;PQA=0;PQR=0;PRO=0;QA=7435;QR=9160;RO=305;RPL=123;RPP=11.0088;RPPR=8.99787;RPR=155;RUN=1;SAF=134;SAP=3.79141;SAR=144;SF=0;SRF=120;SRP=33.0905;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0070;esp6500siv2_ea=0.0094;esp6500siv2_all=0.0070;esp6500siv2_ea=0.0094;1000g2015aug_all=0.00359425;avsnp147=rs55706912;Kaviar_AF=0.0105497;Kaviar_AC=1631;Kaviar_AN=154602;ExAC_ALL=0.0177;ExAC_AFR=0.0033;ExAC_AMR=0.0084;ExAC_EAS=0;ExAC_FIN=0.0110;ExAC_NFE=0.0183;ExAC_OTH=0.0233;ExAC_SAS=0.0350;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8879;dpsi_zscore=-1.403;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.0038;gnomAD_exome_ASJ=0.0051;gnomAD_exome_EAS=6.334e-05;gnomAD_exome_FIN=0.0054;gnomAD_exome_NFE=0.0125;gnomAD_exome_OTH=0.0132;gnomAD_exome_SAS=0.0265;gnomAD_genome_ALL=0.0069;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0054;gnomAD_genome_NFE=0.0108;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-427.942,0,-567.744:607:305:278:7435:9160 . . . . . . . . . . . 0/1:-463.484,0,-667.685:708:354:317:8324:10618 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-540.563,0,-867.603:849:455:350:9442:13598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114213631 . C T 8697.58 . AB=0.465721;ABP=11.6449;AC=5;AF=0.5;AN=10;AO=394;CIGAR=1X;DP=5627;DPB=846;DPRA=0;EPP=28.4948;EPPR=48.7301;GTI=0;LEN=1;MEANALT=3;MQM=33.8909;MQMR=34.5323;NS=1;NUMALT=1;ODDS=1438.49;PAIRED=0.845178;PAIREDR=0.88806;PAO=0;PQA=0;PQR=0;PRO=0;QA=11372;QR=12848;RO=402;RPL=209;RPP=6.18484;RPPR=27.9876;RPR=185;RUN=1;SAF=234;SAP=33.1905;SAR=160;SF=0,1;SRF=232;SRP=23.7743;SRR=170;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon21:c.C2337T:p.V779V,ANK2:NM_020977:exon21:c.C2337T:p.V779V,ANK2:NM_001127493:exon22:c.C2274T:p.V758V;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0332;esp6500siv2_ea=0.0366;esp6500siv2_all=0.0332;esp6500siv2_ea=0.0366;1000g2015aug_all=0.0215655;avsnp147=rs29341;Kaviar_AF=0.0284343;Kaviar_AC=4396;Kaviar_AN=154602;ExAC_ALL=0.0363;ExAC_AFR=0.0358;ExAC_AMR=0.0210;ExAC_EAS=0;ExAC_FIN=0.0719;ExAC_NFE=0.0445;ExAC_OTH=0.0437;ExAC_SAS=0.0215;CLNALLELEID=258338;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6309;dpsi_zscore=-1.212;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0290;gnomAD_exome_AFR=0.0280;gnomAD_exome_AMR=0.0192;gnomAD_exome_ASJ=0.0175;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0355;gnomAD_exome_OTH=0.0355;gnomAD_exome_SAS=0.0186;gnomAD_genome_ALL=0.0405;gnomAD_genome_AFR=0.0295;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0604;gnomAD_genome_NFE=0.0472;gnomAD_genome_OTH=0.0479;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:-638.384,0,-742.838:846:402:394:11372:12848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-769.143,0,-1056.92:1049:537:482:13738:17091 . . . . . . 0/1:-1014.69,0,-980.419:1240:551:630:17500:17104 . . . . 0/1:-747.799,0,-1035.51:1001:511:448:12764:16727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1323.88,0,-1727.38:1491:787:680:20804:25428:787,680 . . . . . . . . . . chr4 114213705 . C T 9264.13 . AB=0.42114;ABP=68.4252;AC=1;AF=0.5;AN=2;AO=510;CIGAR=1X;DP=1211;DPB=1211;DPRA=0;EPP=52.6732;EPPR=18.797;GTI=0;LEN=1;MEANALT=3;MQM=38.5686;MQMR=40.1929;NS=1;NUMALT=1;ODDS=2133.14;PAIRED=0.94902;PAIREDR=0.962908;PAO=0;PQA=0;PQR=0;PRO=0;QA=15523;QR=20426;RO=674;RPL=311;RPP=56.42;RPPR=43.4242;RPR=199;RUN=1;SAF=294;SAP=28.9147;SAR=216;SF=1;SRF=353;SRP=6.30939;SRR=321;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0087;esp6500siv2_ea=0.0122;esp6500siv2_all=0.0087;esp6500siv2_ea=0.0122;1000g2015aug_all=0.00499201;avsnp147=rs72556366;Kaviar_AF=0.0064876;Kaviar_AC=1003;Kaviar_AN=154602;ExAC_ALL=0.0104;ExAC_AFR=0.0029;ExAC_AMR=0.0071;ExAC_EAS=0;ExAC_FIN=0.0042;ExAC_NFE=0.0152;ExAC_OTH=0.0063;ExAC_SAS=0.0055;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2321;dpsi_zscore=0.782;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0084;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0134;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0021;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0058;gnomAD_exome_SAS=0.0063;gnomAD_genome_ALL=0.0065;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0043;gnomAD_genome_NFE=0.0101;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-952.312,0,-1403.95:1211:674:510:15523:20426:674,510 . . . . . . . . . . . . chr4 114257201 . C T 4211.08 . AB=0.420063;ABP=20.7156;AC=22;AF=0.5;AN=42;AO=134;CIGAR=1X;DP=10518;DPB=319;DPRA=0;EPP=15.715;EPPR=10.2822;GTI=0;LEN=1;MEANALT=3;MQM=35.8134;MQMR=35.6977;NS=1;NUMALT=1;ODDS=438.952;PAIRED=0.895522;PAIREDR=0.906977;PAO=0;PQA=0;PQR=0;PRO=0;QA=3808;QR=5294;RO=172;RPL=99;RPP=69.3861;RPPR=105.272;RPR=35;RUN=1;SAF=40;SAP=50.2641;SAR=94;SF=0,1;SRF=63;SRP=29.7245;SRR=109;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon30:c.C3579T:p.R1193R,ANK2:NM_020977:exon30:c.C3579T:p.R1193R,ANK2:NM_001127493:exon32:c.C3552T:p.R1184R;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.2510;esp6500siv2_ea=0.1038;esp6500siv2_all=0.2510;esp6500siv2_ea=0.1038;1000g2015aug_all=0.260383;avsnp147=rs3736575;Kaviar_AF=0.142657;Kaviar_AC=22055;Kaviar_AN=154602;ExAC_ALL=0.1460;ExAC_AFR=0.5557;ExAC_AMR=0.1412;ExAC_EAS=0.1204;ExAC_FIN=0.0626;ExAC_NFE=0.0990;ExAC_OTH=0.1256;ExAC_SAS=0.1304;CLNALLELEID=140093;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0305;dpsi_zscore=-0.167;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1363;gnomAD_exome_AFR=0.5628;gnomAD_exome_AMR=0.1391;gnomAD_exome_ASJ=0.0989;gnomAD_exome_EAS=0.1203;gnomAD_exome_FIN=0.0616;gnomAD_exome_NFE=0.0993;gnomAD_exome_OTH=0.1371;gnomAD_exome_SAS=0.1304;gnomAD_genome_ALL=0.2250;gnomAD_genome_AFR=0.5426;gnomAD_genome_AMR=0.1316;gnomAD_genome_ASJ=0.0728;gnomAD_genome_EAS=0.1343;gnomAD_genome_FIN=0.0621;gnomAD_genome_NFE=0.1036;gnomAD_genome_OTH=0.1201;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-211.442,0,-320.344:319:172:134:3808:5294 . . . . . 0/1:-419.277,0,-560.913:551:279:252:7126:8739 0/1:-495.083,0,-433.102:541:240:279:8012:7165 . . . . . . . . . . . 0/1:-185.202,0,-285.695:286:147:129:3529:4564 . . . . . 0/1:-273.453,0,-408.27:408:209:173:4864:6407 . . . 0/1:-495.091,0,-574.561:622:312:286:8099:9363 . 0/1:-450.863,0,-499.67:532:256:259:7339:7904 0/1:-477.656,0,-526.38:587:282:278:7808:8513 0/1:-308.154,0,-325.818:394:185:185:5163:5326 . . 0/1:-327.464,0,-295.112:354:157:180:5365:4655 . . . 0/1:-405.856,0,-477.633:518:248:246:6685:7606 . . . . . . . . . . . . . . . . 0/1:-259.949,0,-306.474:345:165:164:4440:5003 . . . . . 0/1:-180.069,0,-318.682:299:172:118:3303:5226 . 0/1:-445.707,0,-499.151:531:259:249:7206:7874 . . . 1/1:-1047.35,-117.727,0:523:15:474:13196:423 . . . 0/1:-435.845,0,-585.409:557:287:251:7287:8928 . . . . . . . . . . 0/1:-435.223,0,-557.786:577:289:265:7355:8720 . . 0/1:-448.905,0,-580.882:605:299:274:7733:9305 . . . 0/1:-459.159,0,-533.996:595:288:278:7851:8800 . 0/1:-670.162,0,-805.309:721:375:334:10166:11905:375,334 . . . . . . . . 0/1:-685.99,0,-655.565:653:305:336:10326:9857:305,336 . . . . . . . . . . chr4 114260492 . G T 5331.03 . AB=0.478673;ABP=4.6775;AC=22;AF=0.5;AN=42;AO=202;CIGAR=1X;DP=11002;DPB=422;DPRA=0;EPP=8.21323;EPPR=55.8495;GTI=0;LEN=1;MEANALT=2;MQM=38.3762;MQMR=39.3425;NS=1;NUMALT=1;ODDS=871.867;PAIRED=0.965347;PAIREDR=0.949772;PAO=0;PQA=0;PQR=0;PRO=0;QA=6263;QR=7046;RO=219;RPL=153;RPP=119.281;RPPR=148.182;RPR=49;RUN=1;SAF=95;SAP=4.55828;SAR=107;SF=0,1;SRF=94;SRP=12.539;SRR=125;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.2194;esp6500siv2_ea=0.1044;esp6500siv2_all=0.2194;esp6500siv2_ea=0.1044;1000g2015aug_all=0.228634;avsnp147=rs2272231;Kaviar_AF=0.134468;Kaviar_AC=20789;Kaviar_AN=154602;ExAC_ALL=0.1377;ExAC_AFR=0.4687;ExAC_AMR=0.1384;ExAC_EAS=0.1201;ExAC_FIN=0.0625;ExAC_NFE=0.0990;ExAC_OTH=0.1200;ExAC_SAS=0.1253;CLNALLELEID=140094;CLNDN=Long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1492;dpsi_zscore=0.614;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1301;gnomAD_exome_AFR=0.4749;gnomAD_exome_AMR=0.1349;gnomAD_exome_ASJ=0.0985;gnomAD_exome_EAS=0.1201;gnomAD_exome_FIN=0.0616;gnomAD_exome_NFE=0.1002;gnomAD_exome_OTH=0.1332;gnomAD_exome_SAS=0.1260;gnomAD_genome_ALL=0.2032;gnomAD_genome_AFR=0.4635;gnomAD_genome_AMR=0.1319;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.1329;gnomAD_genome_FIN=0.0621;gnomAD_genome_NFE=0.1049;gnomAD_genome_OTH=0.1191;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-398.771,0,-467.894:422:219:202:6263:7046 . . . . . 0/1:-626.963,0,-770.604:670:357:309:9701:11472 0/1:-535.697,0,-652.152:582:315:266:8435:9903 . . . . . . . . . . . 0/1:-384.768,0,-378.274:376:193:183:5865:5841 . . . . . 0/1:-482.066,0,-481.013:479:232:245:7511:7304 . . . 0/1:-619.389,0,-606.534:589:288:297:9512:9177 . 0/1:-519.436,0,-719.094:583:321:259:8264:10466 0/1:-644.964,0,-659.512:618:311:300:9685:10048 0/1:-252.385,0,-391.066:310:178:131:4076:5629 . . 0/1:-244.672,0,-363.32:297:165:128:3993:5261 . . . 0/1:-696.508,0,-694.711:660:330:329:10632:10407 . . . . . . . . . . . . . . . . 0/1:-409.871,0,-452.503:415:213:202:6285:6870 . . . . . 0/1:-340.284,0,-457.722:386:215:169:5402:6825 . 0/1:-398.678,0,-410.531:378:192:186:6056:6247 . . . 1/1:-1648.32,-152.006,0:660:16:641:20214:531 . . . 0/1:-566.327,0,-613.422:571:294:275:8744:9238 . . . . . . . . . . 0/1:-668.237,0,-680.677:638:313:321:10178:10124 . . 0/1:-715.871,0,-820.559:743:389:351:11088:12374 . . . 0/1:-607.612,0,-642.331:596:302:290:9319:9568 . 0/1:-437.633,0,-656.326:489:283:205:6724:9353:283,205 . . . . . . . . 0/1:-588.61,0,-584.324:540:275:265:8722:8685:275,265 . . . . . . . . . . chr4 114267117 . C T 6283.22 . AB=0.435832;ABP=31.1567;AC=1;AF=0.5;AN=2;AO=343;CIGAR=1X;DP=787;DPB=787;DPRA=0;EPP=3.32051;EPPR=8.44647;GTI=0;LEN=1;MEANALT=3;MQM=39.5685;MQMR=40.4621;NS=1;NUMALT=1;ODDS=1446.76;PAIRED=0.953353;PAIREDR=0.954023;PAO=0;PQA=0;PQR=0;PRO=0;QA=10239;QR=13052;RO=435;RPL=125;RPP=57.7656;RPPR=113.835;RPR=218;RUN=1;SAF=182;SAP=5.80219;SAR=161;SF=0;SRF=222;SRP=3.41464;SRR=213;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon35:c.C4310T:p.T1437M,ANK2:NM_020977:exon35:c.C4310T:p.T1437M,ANK2:NM_001127493:exon37:c.C4283T:p.T1428M;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs142534126;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=188388;CLNDN=Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.178;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=1.735;MutationAssessor_pred=L;FATHMM_score=1.65;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_pred=D;VEST3_score=0.573;CADD_raw=5.639;CADD_phred=26.6;DANN_score=0.999;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.172;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=20.652;GDI_full_10282015=.;dpsi_max_tissue=-0.1099;dpsi_zscore=-0.478;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.809e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-644.166,0,-895.972:787:435:343:10239:13052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114269433 . A G 408.87 . AB=0.540541;ABP=3.5385;AC=1;AF=0.5;AN=2;AO=20;CIGAR=1X;DP=37;DPB=37;DPRA=0;EPP=6.91895;EPPR=14.7363;GTI=0;LEN=1;MEANALT=2;MQM=41;MQMR=42;NS=1;NUMALT=1;ODDS=52.708;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=666;QR=452;RO=15;RPL=11;RPP=3.44459;RPPR=4.31318;RPR=9;RUN=1;SAF=6;SAP=9.95901;SAR=14;SF=1;SRF=7;SRP=3.15506;SRR=8;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon36:c.A4373G:p.E1458G,ANK2:NM_020977:exon36:c.A4373G:p.E1458G,ANK2:NM_001127493:exon38:c.A4346G:p.E1449G;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000998403;avsnp147=rs72544141;Kaviar_AF=0.0004786;Kaviar_AC=74;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=33095;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_4|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1833154|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.441;SIFT_pred=T;Polyphen2_HDIV_score=0.812;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.355;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.44;FATHMM_pred=T;PROVEAN_score=-1.83;PROVEAN_pred=N;VEST3_score=0.855;CADD_raw=4.056;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.984;MetaSVM_pred=T;MetaLR_score=0.058;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.69;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.937;GDI_full_10282015=.;dpsi_max_tissue=-1.4182;dpsi_zscore=-1.680;hgmdCODING=HGMD::Long_QT_syndrome#12571597;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM030186#"Long_QT_syndrome";gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-47.2703,0,-29.2956:37:15:20:666:452:15,20 . . . chr4 114269509 . G A 37.09 . AB=0.277778;ABP=10.7311;AC=1;AF=0.5;AN=2;AO=5;CIGAR=1X;DP=18;DPB=18;DPRA=0;EPP=6.91895;EPPR=3.17734;GTI=0;LEN=1;MEANALT=1;MQM=41.2;MQMR=37.0769;NS=1;NUMALT=1;ODDS=8.54057;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=176;QR=428;RO=13;RPL=5;RPP=13.8677;RPPR=7.18621;RPR=0;RUN=1;SAF=1;SAP=6.91895;SAR=4;SF=0;SRF=3;SRP=11.1951;SRR=10;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0933;esp6500siv2_ea=0.0213;esp6500siv2_all=0.0933;esp6500siv2_ea=0.0213;1000g2015aug_all=0.0960463;avsnp147=rs2272234;Kaviar_AF=0.0393721;Kaviar_AC=6087;Kaviar_AN=154602;ExAC_ALL=0.0403;ExAC_AFR=0.2464;ExAC_AMR=0.0188;ExAC_EAS=0.0476;ExAC_FIN=0.0084;ExAC_NFE=0.0185;ExAC_OTH=0.0245;ExAC_SAS=0.0231;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1295;dpsi_zscore=-1.544;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0361;gnomAD_exome_AFR=0.2503;gnomAD_exome_AMR=0.0218;gnomAD_exome_ASJ=0.0172;gnomAD_exome_EAS=0.0502;gnomAD_exome_FIN=0.0103;gnomAD_exome_NFE=0.0199;gnomAD_exome_OTH=0.0311;gnomAD_exome_SAS=0.0220;gnomAD_genome_ALL=0.0851;gnomAD_genome_AFR=0.2485;gnomAD_genome_AMR=0.0384;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0502;gnomAD_genome_FIN=0.0123;gnomAD_genome_NFE=0.0182;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-10.3123,0,-29.9179:18:13:5:176:428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114274908 . C A 6660.69 . AB=0.51178;ABP=3.93119;AC=1;AF=0.5;AN=2;AO=391;CIGAR=1X;DP=764;DPB=764;DPRA=0;EPP=87.0313;EPPR=45.5276;GTI=0;LEN=1;MEANALT=3;MQM=37.6496;MQMR=37.6694;NS=1;NUMALT=1;ODDS=1515.01;PAIRED=0.959079;PAIREDR=0.96748;PAO=0;PQA=0;PQR=0;PRO=0;QA=10932;QR=10802;RO=369;RPL=144;RPP=61.9288;RPPR=24.9075;RPR=247;RUN=1;SAF=158;SAP=34.2495;SAR=233;SF=0;SRF=172;SRP=6.68827;SRR=197;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5134A:p.Q1712K;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201219746;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.341e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.516e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189230;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.383;SIFT_pred=T;Polyphen2_HDIV_score=0.622;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.19;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=-0.04;FATHMM_pred=T;PROVEAN_score=-0.98;PROVEAN_pred=N;VEST3_score=0.284;CADD_raw=2.044;CADD_phred=16.49;DANN_score=0.957;fathmm-MKL_coding_score=0.911;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.658;MetaSVM_pred=T;MetaLR_score=0.249;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=4.36;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.126;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.208e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.104e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.261e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-691.534,0,-672.624:764:369:391:10932:10802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114275014 . C G 4664.55 . AB=0.464684;ABP=8.83856;AC=1;AF=0.5;AN=2;AO=250;CIGAR=1X;DP=538;DPB=538;DPRA=0;EPP=18.3322;EPPR=27.5058;GTI=0;LEN=1;MEANALT=3;MQM=37.948;MQMR=38.2122;NS=1;NUMALT=1;ODDS=1074.05;PAIRED=0.972;PAIREDR=0.971223;PAO=0;PQA=0;PQR=0;PRO=0;QA=7618;QR=8601;RO=278;RPL=131;RPP=4.26107;RPPR=3.0103;RPR=119;RUN=1;SAF=109;SAP=11.9047;SAR=141;SF=0;SRF=126;SRP=8.29057;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5240G:p.P1747R;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs200628845;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.558e-05;ExAC_OTH=0.0011;ExAC_SAS=6.081e-05;CLNALLELEID=258341;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.878;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.424;Polyphen2_HVAR_pred=B;LRT_score=0.039;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.87;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-2.32;PROVEAN_pred=N;VEST3_score=0.239;CADD_raw=2.646;CADD_phred=20.5;DANN_score=0.979;fathmm-MKL_coding_score=0.232;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.615;MetaSVM_pred=T;MetaLR_score=0.264;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.829;phastCons20way_mammalian=0.880;SiPhy_29way_logOdds=12.634;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.422e-05;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=6.507e-05;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-476.198,0,-551.882:538:278:250:7618:8601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114275243 . C T 6572.09 . AB=0.479866;ABP=5.1089;AC=31;AF=0.5;AN=60;AO=286;CIGAR=1X;DP=23567;DPB=596;DPRA=0;EPP=17.7095;EPPR=14.0512;GTI=0;LEN=1;MEANALT=3;MQM=34.6573;MQMR=35.4965;NS=1;NUMALT=1;ODDS=1032.55;PAIRED=0.933566;PAIREDR=0.975352;PAO=0;PQA=0;PQR=0;PRO=0;QA=7901;QR=8817;RO=284;RPL=129;RPP=8.96287;RPPR=28.7315;RPR=157;RUN=1;SAF=142;SAP=3.04067;SAR=144;SF=0,1;SRF=138;SRP=3.49965;SRR=146;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5469T:p.P1823P;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0814;esp6500siv2_ea=0.1119;esp6500siv2_all=0.0814;esp6500siv2_ea=0.1119;1000g2015aug_all=0.0389377;avsnp147=rs33966911;Kaviar_AF=0.0808916;Kaviar_AC=12506;Kaviar_AN=154602;ExAC_ALL=0.0796;ExAC_AFR=0.0189;ExAC_AMR=0.0501;ExAC_EAS=0.0002;ExAC_FIN=0.1064;ExAC_NFE=0.1139;ExAC_OTH=0.1024;ExAC_SAS=0.0293;CLNALLELEID=251312;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0795;gnomAD_exome_AFR=0.0159;gnomAD_exome_AMR=0.0533;gnomAD_exome_ASJ=0.1180;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.1034;gnomAD_exome_NFE=0.1123;gnomAD_exome_OTH=0.1110;gnomAD_exome_SAS=0.0303;gnomAD_genome_ALL=0.0809;gnomAD_genome_AFR=0.0194;gnomAD_genome_AMR=0.0609;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0948;gnomAD_genome_NFE=0.1214;gnomAD_genome_OTH=0.0927;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-457.954,0,-521.876:596:284:286:7901:8817 . . . . 0/1:-519.633,0,-671.279:704:358:325:9042:11220 0/1:-669.081,0,-789.564:858:426:407:11503:13030 . . . . . . . . . . . . . 0/1:-730.968,0,-686.284:822:376:422:12023:11643 . . . . . . . . . . 0/1:-644.611,0,-879.305:893:458:405:11344:14054 0/1:-779.109,0,-860.692:975:481:472:13580:14571 . . 0/1:-645.695,0,-583.271:741:345:378:10953:10377 . . 0/1:-590.341,0,-619.523:722:342:357:10270:10426 . 0/1:-677.163,0,-627.81:788:358:402:11180:10821 . . . 0/1:-332.221,0,-367.144:414:201:201:5654:6143 . . 0/1:-659.149,0,-765.157:818:401:387:11188:12525 0/1:-565.055,0,-631.298:775:370:372:10536:11204 0/1:-738.775,0,-953.845:999:512:452:12657:15745 . 0/1:-370.037,0,-487.588:550:280:252:7120:8629 . . . 0/1:-502.364,0,-572.925:644:314:306:8737:9459 . . 0/1:-838.738,0,-961.722:1074:522:515:14670:16212 . . . . 0/1:-319.804,0,-363.515:448:209:221:6106:6604 . 0/1:-511.045,0,-611.217:666:331:316:8900:9978 . . . . . . 0/1:-730.289,0,-889.569:976:485:456:12834:14953 . 0/1:-708.269,0,-761.086:898:443:435:12205:13112 0/1:-409.523,0,-477.409:532:266:252:7028:7959 . . . . 0/1:-488.769,0,-735.41:750:403:318:8898:12121 . . . . 0/1:-428.264,0,-504.644:539:262:261:7236:8122 . 0/1:-888.113,0,-954.218:1066:509:533:15118:15808 . . . . . . 0/1:-799.895,0,-881.053:840:423:401:12294:13604:423,401 0/1:-1111.88,0,-940.633:1034:469:539:16796:14794:469,539 . . 0/1:-998.83,0,-1015.7:992:488:492:15226:15371:488,492 . . 0/1:-749.859,0,-755.814:766:377:374:11542:11627:377,374 . . . . 1/1:-1908.11,-200.967,0:787:12:762:23328:375:12,762 0/1:-835.967,0,-946.069:900:450:428:13255:14341:450,428 . . . . . chr4 114275531 . C T 6396.33 . AB=0.474912;ABP=7.69531;AC=1;AF=0.5;AN=2;AO=407;CIGAR=1X;DP=857;DPB=857;DPRA=0;EPP=28.4117;EPPR=20.26;GTI=0;LEN=1;MEANALT=3;MQM=34.9656;MQMR=35.7433;NS=1;NUMALT=1;ODDS=1472.81;PAIRED=0.958231;PAIREDR=0.97066;PAO=0;PQA=0;PQR=0;PRO=0;QA=11156;QR=11615;RO=409;RPL=267;RPP=89.0636;RPPR=57.1697;RPR=140;RUN=1;SAF=202;SAP=3.05832;SAR=205;SF=0;SRF=207;SRP=3.14303;SRR=202;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5757T:p.S1919S;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs543514702;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.15e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.519e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.45e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.704e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.251e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-658.677,0,-689.675:857:409:407:11156:11615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114275600 . C T 3880.12 . AB=0.423453;ABP=34.2597;AC=1;AF=0.5;AN=2;AO=260;CIGAR=1X;DP=614;DPB=614;DPRA=0;EPP=11.5626;EPPR=8.13811;GTI=0;LEN=1;MEANALT=3;MQM=34.2154;MQMR=35.0813;NS=1;NUMALT=1;ODDS=893.43;PAIRED=0.957692;PAIREDR=0.942771;PAO=0;PQA=0;PQR=0;PRO=0;QA=7131;QR=9678;RO=332;RPL=138;RPP=5.14837;RPPR=3.24576;RPR=122;RUN=1;SAF=102;SAP=29.2016;SAR=158;SF=0;SRF=135;SRP=28.1523;SRR=197;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5826T:p.S1942S;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs368036068;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.948e-05;ExAC_AFR=9.625e-05;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=3e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.069e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.695e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-401.014,0,-592.397:614:332:260:7131:9678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114275942 . C G 6367.20 . AB=0.484672;ABP=4.40828;AC=6;AF=0.5;AN=10;AO=332;CIGAR=1X;DP=2752;DPB=685;DPRA=0;EPP=19.3617;EPPR=53.1568;GTI=0;LEN=1;MEANALT=3;MQM=36.3223;MQMR=37.7347;NS=1;NUMALT=1;ODDS=1296.86;PAIRED=0.987952;PAIREDR=0.965015;PAO=0;PQA=0;PQR=0;PRO=0;QA=9520;QR=10320;RO=343;RPL=118;RPP=63.2883;RPPR=23.5791;RPR=214;RUN=1;SAF=179;SAP=7.43173;SAR=153;SF=0;SRF=199;SRP=22.161;SRR=144;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C6168G:p.L2056L;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.1161;esp6500siv2_ea=0.0244;esp6500siv2_all=0.1161;esp6500siv2_ea=0.0244;1000g2015aug_all=0.11881;avsnp147=rs3796928;Kaviar_AF=0.0476902;Kaviar_AC=7373;Kaviar_AN=154602;ExAC_ALL=0.0492;ExAC_AFR=0.3132;ExAC_AMR=0.0244;ExAC_EAS=0.0495;ExAC_FIN=0.0098;ExAC_NFE=0.0232;ExAC_OTH=0.0299;ExAC_SAS=0.0244;CLNALLELEID=251313;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0434;gnomAD_exome_AFR=0.3142;gnomAD_exome_AMR=0.0274;gnomAD_exome_ASJ=0.0208;gnomAD_exome_EAS=0.0524;gnomAD_exome_FIN=0.0115;gnomAD_exome_NFE=0.0239;gnomAD_exome_OTH=0.0380;gnomAD_exome_SAS=0.0232;gnomAD_genome_ALL=0.1049;gnomAD_genome_AFR=0.3121;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0540;gnomAD_genome_FIN=0.0140;gnomAD_genome_NFE=0.0209;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-579.021,0,-654.963:685:343:332:9520:10320 . 0/1:-536.557,0,-660.498:642:335:297:8844:10151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-269.432,0,-273.11:310:151:153:4566:4510 . 0/1:-332.725,0,-414.95:417:219:187:5560:6548 . . . 1/1:-1536.61,-142.082,0:698:27:662:19286:753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114275980 . G A 4039.22 . AB=0.494505;ABP=3.12961;AC=1;AF=0.5;AN=2;AO=225;CIGAR=1X;DP=455;DPB=455;DPRA=0;EPP=5.18177;EPPR=12.7163;GTI=0;LEN=1;MEANALT=3;MQM=36.6711;MQMR=36.9349;NS=1;NUMALT=1;ODDS=887.055;PAIRED=0.977778;PAIREDR=0.962791;PAO=0;PQA=0;PQR=0;PRO=0;QA=6578;QR=6453;RO=215;RPL=102;RPP=7.26639;RPPR=16.837;RPR=123;RUN=1;SAF=115;SAP=3.25157;SAR=110;SF=0;SRF=121;SRP=10.3731;SRR=94;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G6206A:p.R2069H;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000998403;avsnp147=rs149645600;Kaviar_AF=0.0009314;Kaviar_AC=144;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0004;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0014;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=178534;CLNDN=Cardiac_arrest|Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.584;Polyphen2_HVAR_pred=P;LRT_score=0.516;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.87;MutationAssessor_pred=L;FATHMM_score=-0.31;FATHMM_pred=T;PROVEAN_score=-0.26;PROVEAN_pred=N;VEST3_score=0.143;CADD_raw=3.507;CADD_phred=23.1;DANN_score=0.975;fathmm-MKL_coding_score=0.332;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.812;MetaSVM_pred=T;MetaLR_score=0.265;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.56;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.023;phastCons20way_mammalian=0.087;SiPhy_29way_logOdds=4.717;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-411.88,0,-395.594:455:215:225:6578:6453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114276422 . C G 2868.49 . AB=0.491429;ABP=3.23365;AC=4;AF=0.5;AN=8;AO=172;CIGAR=1X;DP=1407;DPB=350;DPRA=0;EPP=87.8997;EPPR=57.372;GTI=0;LEN=1;MEANALT=2;MQM=34.7558;MQMR=32.9828;NS=1;NUMALT=1;ODDS=659.502;PAIRED=0.994186;PAIREDR=0.971264;PAO=0;PQA=0;PQR=0;PRO=0;QA=5149;QR=5615;RO=174;RPL=103;RPP=17.6046;RPPR=12.7944;RPR=69;RUN=1;SAF=74;SAP=10.2822;SAR=98;SF=0,1;SRF=87;SRP=3.0103;SRR=87;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C6648G:p.G2216G;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0033;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0033;1000g2015aug_all=0.00139776;avsnp147=rs140926982;Kaviar_AF=0.0023221;Kaviar_AC=359;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0002;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0036;ExAC_OTH=0.0022;ExAC_SAS=0.0005;CLNALLELEID=239317;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0031;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-304.412,0,-312.699:350:174:172:5149:5615 . . 0/1:-262.112,0,-307.083:324:163:153:4468:5144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-436.624,0,-380.504:384:178:201:6482:5782:178,201 . . . . . . . 0/1:-348.03,0,-407.66:349:183:163:5232:6022:183,163 chr4 114276686 . T C 14082.90 . AB=0.508242;ABP=3.86934;AC=1;AF=0.5;AN=2;AO=740;CIGAR=1X;DP=1456;DPB=1456;DPRA=0;EPP=3.11594;EPPR=37.6564;GTI=0;LEN=1;MEANALT=3;MQM=38.0959;MQMR=38.6657;NS=1;NUMALT=1;ODDS=3242.71;PAIRED=0.954054;PAIREDR=0.962373;PAO=0;PQA=0;PQR=0;PRO=0;QA=22007;QR=22284;RO=691;RPL=390;RPP=7.70538;RPPR=46.0281;RPR=350;RUN=1;SAF=325;SAP=26.7791;SAR=415;SF=0;SRF=313;SRP=16.2874;SRR=378;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.T6912C:p.T2304T;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000199681;avsnp147=rs190680846;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0003;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=239318;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1419.79,0,-1429.04:1456:691:740:22007:22284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114276880 . TTCAA CTCAG,TTCAG 6033.12 . AB=0.420152;ABP=32.1394;AC=36,2;AF=0.5;AN=64;AO=221;CIGAR=1X3M1X;DP=22196;DPB=530.2;DPRA=0;EPP=74.0007;EPPR=111.574;GTI=0;LEN=5;MEANALT=31;MQM=38.3484;MQMR=40.2183;NS=1;NUMALT=1;ODDS=791.5;PAIRED=0.99095;PAIREDR=0.969432;PAO=4;PQA=101;PQR=61;PRO=3;QA=5714;QR=6788;RO=229;RPL=159;RPP=95.46;RPPR=111.574;RPR=62;RUN=1;SAF=113;SAP=3.25594;SAR=108;SF=0,1;SRF=127;SRP=8.93681;SRR=102;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=ANK2:NM_001148:exon38:c.7106_7110CTCAG;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=ANK2:NM_001148:exon38:c.7110delA:p.Q2370fs;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-367.808,0,-454.757,.,.,.:526:229:221,.:5714,.:6788 . . . . 0/1:-472.708,0,-609.988,.,.,.:708:311:301,.:7689,.:9169 1/2:-1432.52,-724.146,-620.492,-700.8,0,-604.194:868:9:376,356:10001,10028:236 . . . . . . . . . . . . . 0/1:-744.009,0,-841.382,.,.,.:991:421:450,.:11687,.:12606 . . . . . . . . 0/1:-575.616,0,-699.41,.,.,.:847:361:354,.:9359,.:10682 . 1/1:-1498.23,-195.676,0,.,.,.:800:6:676,.:17738,.:156 0/1:-650.678,0,-635.138,.,.,.:879:338:397,.:10388,.:9871 . . 0/1:-551.483,0,-636.496,.,.,.:829:332:354,.:8744,.:9753 . . 0/1:-502.025,0,-684.124,.,.,.:778:345:319,.:8312,.:10299 . 0/1:-628.128,0,-598.282,.,.,.:803:323:359,.:9540,.:9497 . . . 0/1:-348.843,0,-306.453,.,.,.:437:167:204,.:5295,.:4813 . . 0/1:-589.149,0,-735.475,.,.,.:881:379:364,.:9474,.:11016 0/1:-437.968,0,-665.812,.,.,.:806:356:311,.:7672,.:10293 0/1:-666.594,0,-950.384,.,.,.:1030:485:426,.:10980,.:14304 . 0/1:-377.557,0,-584.271,.,.,.:706:323:276,.:6692,.:9172 . . . 0/1:-422.475,0,-466.212,.,.,.:604:241:260,.:6772,.:7104 . . 0/1:-697.806,0,-815.919,.,.,.:1041:435:434,.:11139,.:12732 . . . . 1/2:-758.077,-411.519,-355.463,-345.644,0,-285.203:483:2:186,206:4763,5769:61 . 1/1:-1378.78,-161.744,0,.,.,.:732:13:623,.:16465,.:392 . . . 1/1:-1564.5,-189.035,0,.,.,.:812:13:702,.:18337,.:391 . . 0/1:-763.57,0,-724.952,.,.,.:1042:405:492,.:12489,.:11740 . 0/1:-598.271,0,-841.223,.,.,.:915:424:373,.:9861,.:12477 0/1:-287.247,0,-365.762,.,.,.:441:186:176,.:4707,.:5540 . . . . 0/1:-450.37,0,-570.666,.,.,.:705:303:295,.:7394,.:8933 . . . . 0/1:-355.973,0,-325.587,.,.,.:469:176:221,.:5653,.:5185 . 0/1:-725.047,0,-953.357,.,.,.:1072:482:447,.:11670,.:14203 . . . . . . 0/1:-308.019,0,-311.315,.,.,.:329:149:148,.:4537,.:4611:149,148 0/1:-382.218,0,-245.954,.,.,.:321:125:172,.:5295,.:3837:125,172 . . 0/1:-338.191,0,-318.414,.,.,.:355:158:165,.:5075,.:4769:158,165 . . 0/1:-289.542,0,-355.683,.,.,.:331:169:137,.:4274,.:5235:169,137 . . . . 1/1:-760.034,-83.328,0,.,.,.:321:2:285,.:8723,.:51:2,285 0/1:-302.512,0,-321.127,.,.,.:334:157:147,.:4513,.:4773:157,147 . . . . . chr4 114276884 . A G 4663.53 . AB=0.499377;ABP=3.013;AC=11;AF=0.5;AN=22;AO=401;CIGAR=1X;DP=6748;DPB=803;DPRA=0;EPP=107.636;EPPR=112.866;GTI=0;LEN=1;MEANALT=3;MQM=36.9726;MQMR=37.9757;NS=1;NUMALT=1;ODDS=1474;PAIRED=0.957606;PAIREDR=0.916442;PAO=0;PQA=0;PQR=0;PRO=0;QA=10983;QR=11014;RO=371;RPL=301;RPP=221.787;RPPR=170.179;RPR=100;RUN=1;SAF=188;SAP=6.39476;SAR=213;SF=0,1;SRF=181;SRP=3.4844;SRR=190;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A7110G:p.Q2370Q;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.2941;esp6500siv2_ea=0.1620;esp6500siv2_all=0.2941;esp6500siv2_ea=0.1620;1000g2015aug_all=0.284944;avsnp147=rs3733615;Kaviar_AF=0.185787;Kaviar_AC=28723;Kaviar_AN=154602;ExAC_ALL=0.1902;ExAC_AFR=0.5669;ExAC_AMR=0.1728;ExAC_EAS=0.1205;ExAC_FIN=0.1283;ExAC_NFE=0.1603;ExAC_OTH=0.1876;ExAC_SAS=0.1471;CLNALLELEID=251314;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1816;gnomAD_exome_AFR=0.5730;gnomAD_exome_AMR=0.1714;gnomAD_exome_ASJ=0.2045;gnomAD_exome_EAS=0.1208;gnomAD_exome_FIN=0.1259;gnomAD_exome_NFE=0.1576;gnomAD_exome_OTH=0.2051;gnomAD_exome_SAS=0.1477;gnomAD_genome_ALL=0.2669;gnomAD_genome_AFR=0.5553;gnomAD_genome_AMR=0.1718;gnomAD_genome_ASJ=0.1954;gnomAD_genome_EAS=0.1334;gnomAD_genome_FIN=0.1194;gnomAD_genome_NFE=0.1616;gnomAD_genome_OTH=0.1673;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-681.975,0,-690.46:803:371:401:10983:11014 . . . . . . . . . . . 0/1:-398.361,0,-582.666:587:306:261:6909:9140 . . . . . 0/1:-415.366,0,-589.711:621:317:285:7399:9403 . . . . . . . 0/1:-225.425,0,-264.015:291:140:142:3734:4263 . . 0/1:-267.934,0,-316.001:344:170:166:4570:5058 . . . . . . . . . . . . . . . . . . . . 0/1:-535.242,0,-501.505:614:281:310:8502:8143 . . . . . . . . . . . . . . . 0/1:-765.02,0,-790.255:898:432:447:12202:12659 . . . . . . . . . . 0/1:-594.092,0,-798.606:810:409:369:9923:12499 . . . . . . 0/1:-693.007,0,-961.06:990:509:448:11720:14923 . 0/1:-511.836,0,-415.232:447:203:240:7435:6313:203,240 . . . . . . . . 0/1:-352.806,0,-325.706:343:165:170:5195:5005:165,170 . . . . . . . . . . chr4 114276894 . G T 2122.75 . AB=0.518868;ABP=3.66584;AC=1;AF=0.5;AN=2;AO=110;CIGAR=1X;DP=212;DPB=212;DPRA=0;EPP=44.7815;EPPR=34.3664;GTI=0;LEN=1;MEANALT=3;MQM=38.8636;MQMR=40.84;NS=1;NUMALT=1;ODDS=429.725;PAIRED=0.872727;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=3387;QR=3010;RO=100;RPL=72;RPP=25.8305;RPPR=15.518;RPR=38;RUN=1;SAF=52;SAP=3.72096;SAR=58;SF=1;SRF=45;SRP=5.18177;SRR=55;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G7120T:p.A2374S;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs763277342;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.246e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.086;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.027;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.35;FATHMM_pred=T;PROVEAN_score=0.13;PROVEAN_pred=N;VEST3_score=0.039;CADD_raw=-2.700;CADD_phred=0.001;DANN_score=0.612;fathmm-MKL_coding_score=0.103;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.008;MetaSVM_pred=T;MetaLR_score=0.160;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=-11.2;phyloP7way_vertebrate=-0.687;phyloP20way_mammalian=0.208;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=13.683;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.222e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.801e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-225.632,0,-197.935:212:100:110:3387:3010:100,110 . . . . . . . . . . . . . . . . chr4 114278277 . C T 6155.81 . AB=0.494213;ABP=3.26163;AC=13;AF=0.5;AN=26;AO=427;CIGAR=1X;DP=8868;DPB=864;DPRA=0;EPP=6.71757;EPPR=3.05694;GTI=0;LEN=1;MEANALT=3;MQM=39.3091;MQMR=38.5871;NS=1;NUMALT=1;ODDS=1806.14;PAIRED=0.978923;PAIREDR=0.983294;PAO=0;PQA=0;PQR=0;PRO=0;QA=12756;QR=12638;RO=419;RPL=221;RPP=4.15452;RPPR=27.6842;RPR=206;RUN=1;SAF=306;SAP=177.059;SAR=121;SF=0,1;SRF=288;SRP=130.754;SRR=131;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C8503T:p.P2835S;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.1462;esp6500siv2_ea=0.0457;esp6500siv2_all=0.1462;esp6500siv2_ea=0.0457;1000g2015aug_all=0.187899;avsnp147=rs3733617;Kaviar_AF=0.0872628;Kaviar_AC=13491;Kaviar_AN=154602;ExAC_ALL=0.0900;ExAC_AFR=0.3614;ExAC_AMR=0.1151;ExAC_EAS=0.1203;ExAC_FIN=0.0191;ExAC_NFE=0.0414;ExAC_OTH=0.0749;ExAC_SAS=0.1116;CLNALLELEID=189247;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.567;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.371;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-0.37;PROVEAN_pred=N;VEST3_score=0.04;CADD_raw=0.373;CADD_phred=6.374;DANN_score=0.883;fathmm-MKL_coding_score=0.104;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=2.54;phyloP7way_vertebrate=-0.662;phyloP20way_mammalian=-0.420;phastCons7way_vertebrate=0.068;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=4.192;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM121499#"Long_QT_syndrome_drug-associated";gnomAD_exome_ALL=0.0856;gnomAD_exome_AFR=0.3680;gnomAD_exome_AMR=0.1081;gnomAD_exome_ASJ=0.0829;gnomAD_exome_EAS=0.1205;gnomAD_exome_FIN=0.0201;gnomAD_exome_NFE=0.0410;gnomAD_exome_OTH=0.0818;gnomAD_exome_SAS=0.1113;gnomAD_genome_ALL=0.1346;gnomAD_genome_AFR=0.3624;gnomAD_genome_AMR=0.1050;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0.1312;gnomAD_genome_FIN=0.0215;gnomAD_genome_NFE=0.0371;gnomAD_genome_OTH=0.0601;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-835.922,0,-807.739:864:419:427:12756:12638 0/1:-637.772,0,-781.466:783:405:362:10550:11944 . . . . . . . . . . . 0/1:-423.872,0,-527.341:513:267:236:6865:8189 . . . . . 0/1:-459.188,0,-564.729:568:297:252:7419:8904 . . . . . . . 0/1:-287.722,0,-288.522:303:145:149:4448:4429 . . 0/1:-291.967,0,-344.442:339:173:163:4786:5303 . . . . . . . . . . . . . . . . . . . . 0/1:-529.47,0,-489.376:549:263:272:8312:7803 . . . . . 0/1:-458.864,0,-409.221:479:229:242:7228:6635 . . . . . . . . . 0/1:-898.963,0,-892.814:913:442:448:13661:13629 . . . . . . . . . . 0/1:-789.611,0,-933.933:916:466:425:12554:14217 . . . . . . 0/1:-794.177,0,-883.579:901:453:424:12504:13307 . 0/1:-879.031,0,-988.16:888:454:418:13266:14321:454,418 . . . . . . . . 0/1:-922.532,0,-874.642:852:421:421:13579:13176:421,421 . . . . . . . . . . chr4 114278820 . G A 7107.49 . AB=0.494354;ABP=3.23099;AC=1;AF=0.5;AN=2;AO=394;CIGAR=1X;DP=797;DPB=797;DPRA=0;EPP=3.80393;EPPR=9.18454;GTI=0;LEN=1;MEANALT=3;MQM=38.2665;MQMR=39.7546;NS=1;NUMALT=1;ODDS=1636.56;PAIRED=0.972081;PAIREDR=0.966057;PAO=0;PQA=0;PQR=0;PRO=0;QA=11359;QR=11398;RO=383;RPL=221;RPP=15.7085;RPPR=7.77847;RPR=173;RUN=1;SAF=232;SAP=30.0159;SAR=162;SF=0;SRF=236;SRP=47.9195;SRR=147;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G9046A:p.E3016K;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000399361;avsnp147=rs149963885;Kaviar_AF=0.0004786;Kaviar_AC=74;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0002;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0022;ExAC_SAS=0.0002;CLNALLELEID=189248;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.636;SIFT_pred=T;Polyphen2_HDIV_score=0.226;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_pred=B;LRT_score=0.899;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=-0.16;FATHMM_pred=T;PROVEAN_score=0.5;PROVEAN_pred=N;VEST3_score=0.186;CADD_raw=0.219;CADD_phred=4.874;DANN_score=0.151;fathmm-MKL_coding_score=0.434;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.055;MetaSVM_pred=T;MetaLR_score=0.655;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=2.77;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.128;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=9.088;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-722.571,0,-738.628:797:383:394:11359:11398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114279294 . A G 6239.02 . AB=0.423434;ABP=46.9033;AC=1;AF=0.5;AN=2;AO=365;CIGAR=1X;DP=862;DPB=862;DPRA=0;EPP=22.3394;EPPR=13.7006;GTI=0;LEN=1;MEANALT=3;MQM=37.6795;MQMR=38.9722;NS=1;NUMALT=1;ODDS=1436.59;PAIRED=0.958904;PAIREDR=0.987179;PAO=0;PQA=0;PQR=0;PRO=0;QA=10563;QR=13869;RO=468;RPL=143;RPP=40.1395;RPPR=124.78;RPR=222;RUN=1;SAF=202;SAP=12.0591;SAR=163;SF=0;SRF=255;SRP=11.1951;SRR=213;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A9520G:p.T3174A;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs560480810;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.259e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.503e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.837;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.859;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=-0.18;FATHMM_pred=T;PROVEAN_score=-0.24;PROVEAN_pred=N;VEST3_score=0.055;CADD_raw=-1.082;CADD_phred=0.011;DANN_score=0.498;fathmm-MKL_coding_score=0.070;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.344;MetaSVM_pred=T;MetaLR_score=0.471;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=-2.52;phyloP7way_vertebrate=-0.347;phyloP20way_mammalian=-0.041;phastCons7way_vertebrate=0.457;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=1.052;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.074e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.003e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.458e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-640.94,0,-923.951:862:468:365:10563:13869 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114279422 . A G 8408.64 . AB=0.501603;ABP=3.02422;AC=36;AF=0.5;AN=64;AO=313;CIGAR=1X;DP=26888;DPB=624;DPRA=0;EPP=21.055;EPPR=4.954;GTI=0;LEN=1;MEANALT=3;MQM=38.0767;MQMR=38.2133;NS=1;NUMALT=1;ODDS=1181.5;PAIRED=0.968051;PAIREDR=0.972028;PAO=0;PQA=0;PQR=0;PRO=0;QA=9315;QR=8551;RO=286;RPL=201;RPP=57.9631;RPPR=70.0982;RPR=112;RUN=1;SAF=111;SAP=60.4607;SAR=202;SF=0,1;SRF=85;SRP=105.176;SRR=201;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A9648G:p.E3216E;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.1394;esp6500siv2_ea=0.1158;esp6500siv2_all=0.1394;esp6500siv2_ea=0.1158;1000g2015aug_all=0.0920527;avsnp147=rs10013743;Kaviar_AF=0.0981941;Kaviar_AC=15181;Kaviar_AN=154602;ExAC_ALL=0.0982;ExAC_AFR=0.1817;ExAC_AMR=0.0572;ExAC_EAS=0.0002;ExAC_FIN=0.1090;ExAC_NFE=0.1192;ExAC_OTH=0.1123;ExAC_SAS=0.0352;CLNALLELEID=251315;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0944;gnomAD_exome_AFR=0.1811;gnomAD_exome_AMR=0.0625;gnomAD_exome_ASJ=0.1221;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.1059;gnomAD_exome_NFE=0.1167;gnomAD_exome_OTH=0.1222;gnomAD_exome_SAS=0.0363;gnomAD_genome_ALL=0.1263;gnomAD_genome_AFR=0.1711;gnomAD_genome_AMR=0.0668;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0979;gnomAD_genome_NFE=0.1244;gnomAD_genome_OTH=0.1069;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-600.876,0,-538.333:624:286:313:9315:8551 . . . . 0/1:-566.429,0,-781.624:752:407:323:9490:12004 0/1:-836.975,0,-875.753:995:469:485:13566:13927 . . . . . . . . . . . . . 0/1:-901.11,0,-1022.06:1103:540:517:14701:16038 . . . . . . . . 0/1:-713.803,0,-845.199:882:451:398:11567:13524 . 1/1:-2258.49,-262.857,0:986:13:949:27538:367 0/1:-871.182,0,-897.189:989:473:479:13900:14190 . . 0/1:-676.229,0,-754.647:851:408:406:11466:11983 . . 0/1:-671.133,0,-752.933:780:388:362:10745:11827 . 0/1:-805.309,0,-767.758:884:407:442:12675:12288 . . . 0/1:-467.946,0,-400.638:486:223:247:7255:6541 . . 0/1:-785.641,0,-816.172:937:442:448:12705:13188 0/1:-670.342,0,-570.762:778:338:399:10761:10175 0/1:-1054.84,0,-1170.05:1222:606:573:16807:18321 . 0/1:-537.387,0,-657.244:704:351:322:9124:10397 . . . 0/1:-476.367,0,-658.148:650:339:278:7841:10224 . . 0/1:-844.941,0,-977.378:1029:504:486:13773:15232 . . . . 0/1:-325.578,0,-427.869:472:239:204:5821:6829 . 1/1:-1513.4,-172.224,0:664:13:635:18451:309 . . . 1/1:-2155.18,-228.437,0:999:29:940:26832:842 . . 0/1:-863.771,0,-763.341:981:431:519:14245:12805 . 0/1:-865.986,0,-1009.35:1060:528:495:14347:16015 0/1:-460.96,0,-634.263:602:318:265:7771:9729 . . . . 0/1:-599.267,0,-773.09:781:396:343:9875:12090 . . . . 0/1:-460.491,0,-425.471:501:237:247:7275:6830 . 0/1:-1083.55,0,-1097.63:1245:582:612:17817:17592 . . . . . . 0/1:-803.806,0,-831.367:835:410:407:12270:12309:410,407 0/1:-856.15,0,-848.9:864:419:427:12853:12764:419,427 . . 0/1:-967.25,0,-868.006:933:441:472:14379:13384:441,472 . . 0/1:-630.888,0,-753.428:709:371:319:9789:11210:371,319 . . . . 1/1:-1766.66,-181.835,0:709:12:684:20933:356:12,684 0/1:-849.501,0,-873.556:881:426:437:13041:13092:426,437 . . . . . chr4 114279628 . T C 7895.47 . AB=0.497751;ABP=3.0689;AC=7;AF=0.5;AN=14;AO=664;CIGAR=1X;DP=7170;DPB=1334;DPRA=0;EPP=234.403;EPPR=172.16;GTI=0;LEN=1;MEANALT=3;MQM=37.5828;MQMR=38.1754;NS=1;NUMALT=1;ODDS=2408.26;PAIRED=0.950301;PAIREDR=0.987241;PAO=0;PQA=0;PQR=0;PRO=0;QA=17507;QR=18358;RO=627;RPL=259;RPP=72.7198;RPPR=14.2625;RPR=405;RUN=1;SAF=292;SAP=23.9402;SAR=372;SF=0,1;SRF=264;SRP=36.9538;SRR=363;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.T9854C:p.I3285T;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0090;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0090;1000g2015aug_all=0.00399361;avsnp147=rs36210417;Kaviar_AF=0.0080917;Kaviar_AC=1251;Kaviar_AN=154602;ExAC_ALL=0.0082;ExAC_AFR=0.0013;ExAC_AMR=0.0074;ExAC_EAS=0;ExAC_FIN=0.0059;ExAC_NFE=0.0114;ExAC_OTH=0.0232;ExAC_SAS=0.0047;CLNALLELEID=188392;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.033;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_pred=M;FATHMM_score=-0.57;FATHMM_pred=T;PROVEAN_score=-1.79;PROVEAN_pred=N;VEST3_score=0.936;CADD_raw=4.950;CADD_phred=25.0;DANN_score=0.998;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_pred=D;MetaSVM_score=0.882;MetaSVM_pred=D;MetaLR_score=0.900;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.812;SiPhy_29way_logOdds=16.170;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0087;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0272;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0058;gnomAD_exome_NFE=0.0107;gnomAD_exome_OTH=0.0137;gnomAD_exome_SAS=0.0048;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0054;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1087.18,0,-1154.78:1334:627:664:17507:18358 . . . . . . . . . . . . . . 0/1:-556.821,0,-844.085:812:438:345:9242:13029 . 0/1:-578.837,0,-617.26:688:329:336:9188:9700 . . . . . . . . 0/1:-1080.73,0,-1419.68:1410:716:638:17554:21598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-607.537,0,-890.226:845:454:367:10129:13551 . . . . . . . . . . . . . 0/1:-1077.43,0,-1055.15:1064:507:530:16059:15975:507,530 . . . . . . . . . . . . 0/1:-876.603,0,-1155.8:1017:536:461:13747:16823:536,461 . . chr4 114279674 . C A 7928.63 . AB=0.447481;ABP=31.0651;AC=6;AF=0.5;AN=12;AO=524;CIGAR=1X;DP=5656;DPB=1171;DPRA=0;EPP=35.1017;EPPR=58.4268;GTI=0;LEN=1;MEANALT=3;MQM=37.6298;MQMR=37.9611;NS=1;NUMALT=1;ODDS=2115.18;PAIRED=0.975191;PAIREDR=0.970405;PAO=0;PQA=0;PQR=0;PRO=0;QA=15616;QR=19643;RO=642;RPL=304;RPP=32.2506;RPPR=110.177;RPR=220;RUN=1;SAF=210;SAP=47.8321;SAR=314;SF=0,1;SRF=271;SRP=36.8339;SRR=371;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C9900A:p.S3300R;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0317;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0317;1000g2015aug_all=0.00998403;avsnp147=rs34270799;Kaviar_AF=0.0193529;Kaviar_AC=2992;Kaviar_AN=154602;ExAC_ALL=0.0188;ExAC_AFR=0.0041;ExAC_AMR=0.0113;ExAC_EAS=0.0002;ExAC_FIN=0.0307;ExAC_NFE=0.0264;ExAC_OTH=0.0099;ExAC_SAS=0.0081;CLNALLELEID=189251;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.885;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=-0.36;FATHMM_pred=T;PROVEAN_score=-1.64;PROVEAN_pred=N;VEST3_score=0.283;CADD_raw=2.371;CADD_phred=18.63;DANN_score=0.994;fathmm-MKL_coding_score=0.830;fathmm-MKL_coding_pred=D;MetaSVM_score=0.401;MetaSVM_pred=D;MetaLR_score=0.744;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.09;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=9.521;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0126;gnomAD_exome_ASJ=0.0185;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0297;gnomAD_exome_NFE=0.0271;gnomAD_exome_OTH=0.0205;gnomAD_exome_SAS=0.0088;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0056;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0341;gnomAD_genome_NFE=0.0297;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-939.866,0,-1290.5:1171:642:524:15616:19643 . . . . . . . . . . . . . . . 0/1:-983.535,0,-1167.45:1091:566:521:15814:17693 . . . . . . . . . . . . . . . . 0/1:-729.582,0,-1055.27:916:513:401:12154:15707 . . . 0/1:-934.941,0,-911.129:931:457:469:14517:13984 . . . . . . . . . . . . . . . . . 0/1:-418.273,0,-561.137:537:291:246:7143:8874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-873.462,0,-1272.6:1010:574:434:13739:18240:574,434 . . . chr4 114279918 . A T 4860.89 . AB=0.453822;ABP=14.6422;AC=1;AF=0.5;AN=2;AO=285;CIGAR=1X;DP=628;DPB=628;DPRA=0;EPP=41.4187;EPPR=19.7655;GTI=0;LEN=1;MEANALT=3;MQM=37.0912;MQMR=38.0648;NS=1;NUMALT=1;ODDS=1119.26;PAIRED=0.968421;PAIREDR=0.972222;PAO=0;PQA=0;PQR=0;PRO=0;QA=8610;QR=9922;RO=324;RPL=76;RPP=137.786;RPPR=138.151;RPR=209;RUN=1;SAF=206;SAP=125.9;SAR=79;SF=0;SRF=206;SRP=54.9112;SRR=118;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A10144T:p.I3382F;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs138207015;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.24e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.168;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.086;Polyphen2_HVAR_pred=B;LRT_score=0.280;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=0.15;PROVEAN_pred=N;VEST3_score=0.088;CADD_raw=-0.317;CADD_phred=0.606;DANN_score=0.519;fathmm-MKL_coding_score=0.408;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.296;MetaSVM_pred=T;MetaLR_score=0.586;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=1.41;phyloP7way_vertebrate=0.078;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.100;phastCons20way_mammalian=0.151;SiPhy_29way_logOdds=5.304;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.07e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.992e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-524.613,0,-642.211:628:324:285:8610:9922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114280145 . G A 11684.00 . AB=0.514938;ABP=5.21612;AC=5;AF=0.5;AN=8;AO=586;CIGAR=1X;DP=4031;DPB=1138;DPRA=0;EPP=238.33;EPPR=200.321;GTI=0;LEN=1;MEANALT=3;MQM=38.4761;MQMR=38.5992;NS=1;NUMALT=1;ODDS=1957.73;PAIRED=0.962457;PAIREDR=0.964286;PAO=0;PQA=0;PQR=0;PRO=0;QA=15913;QR=14343;RO=504;RPL=239;RPP=46.2322;RPPR=9.90386;RPR=347;RUN=1;SAF=282;SAP=4.8038;SAR=304;SF=0;SRF=255;SRP=3.16541;SRR=249;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G10371A:p.T3457T;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0031;1000g2015aug_all=0.00199681;avsnp147=rs142908806;Kaviar_AF=0.0026972;Kaviar_AC=417;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0007;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0015;ExAC_NFE=0.0045;ExAC_OTH=0.0011;ExAC_SAS=0.0008;CLNALLELEID=239329;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0038;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1030.16,0,-880.569:1138:504:586:15913:14343 . 0/1:-1022.24,0,-889.466:1100:501:570:15794:14502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-484.651,0,-737.564:718:384:300:8223:11190 . . . 1/1:-2248.37,-221.065,0:1075:37:1003:27502:1076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114280329 . C T 8529.12 . AB=0.472946;ABP=9.355;AC=1;AF=0.5;AN=2;AO=472;CIGAR=1X;DP=998;DPB=998;DPRA=0;EPP=85.6183;EPPR=28.1959;GTI=0;LEN=1;MEANALT=3;MQM=38.2754;MQMR=39.0924;NS=1;NUMALT=1;ODDS=1963.9;PAIRED=0.989407;PAIREDR=0.953815;PAO=0;PQA=0;PQR=0;PRO=0;QA=13756;QR=15530;RO=498;RPL=257;RPP=11.1257;RPPR=5.95792;RPR=215;RUN=1;SAF=244;SAP=4.18805;SAR=228;SF=0;SRF=257;SRP=4.12656;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C10555T:p.L3519L;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750329150;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.649e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.074e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-870.246,0,-1021.24:998:498:472:13756:15530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114280434 . A T 9349.19 . AB=0.495238;ABP=3.19643;AC=1;AF=0.5;AN=2;AO=468;CIGAR=1X;DP=945;DPB=945;DPRA=0;EPP=199.909;EPPR=96.4933;GTI=0;LEN=1;MEANALT=2;MQM=38.8611;MQMR=39.2863;NS=1;NUMALT=1;ODDS=2152.73;PAIRED=0.972222;PAIREDR=0.991579;PAO=0;PQA=0;PQR=0;PRO=0;QA=14866;QR=15311;RO=475;RPL=289;RPP=59.1531;RPPR=79.085;RPR=179;RUN=1;SAF=210;SAP=13.7006;SAR=258;SF=0;SRF=221;SRP=7.98869;SRR=254;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A10660T:p.N3554Y;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs758868149;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.658e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.014e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.084;SIFT_pred=T;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.858;Polyphen2_HVAR_pred=P;LRT_score=0.006;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.36;FATHMM_pred=T;PROVEAN_score=-2.63;PROVEAN_pred=D;VEST3_score=0.428;CADD_raw=3.423;CADD_phred=23.0;DANN_score=0.987;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=0.553;MetaSVM_pred=D;MetaLR_score=0.827;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.86;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.156;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.631e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.606e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-969.873,0,-1005.95:945:475:468:14866:15311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114282025 . T C 9704.67 . AB=0.451395;ABP=27.2856;AC=1;AF=0.5;AN=2;AO=534;CIGAR=1X;DP=1183;DPB=1183;DPRA=0;EPP=65.5357;EPPR=152.607;GTI=0;LEN=1;MEANALT=3;MQM=38.5824;MQMR=40.0621;NS=1;NUMALT=1;ODDS=2234.58;PAIRED=0.960674;PAIREDR=0.963376;PAO=0;PQA=0;PQR=0;PRO=0;QA=15842;QR=19169;RO=628;RPL=226;RPP=30.353;RPPR=4.68386;RPR=308;RUN=1;SAF=311;SAP=34.5007;SAR=223;SF=0;SRF=339;SRP=11.6547;SRR=289;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon38:c.T4473C:p.I1491I,ANK2:NM_001148:exon39:c.T10728C:p.I3576I,ANK2:NM_001127493:exon40:c.T4446C:p.I1482I;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs150548553;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.87e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.603e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.5446;dpsi_zscore=2.794;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.225e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.701e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-992.331,0,-1296.84:1183:628:534:15842:19169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114284645 . C T 10873.18 . AB=0.495622;ABP=3.10537;AC=36;AF=0.5;AN=64;AO=283;CIGAR=1X;DP=29554;DPB=571;DPRA=0;EPP=14.681;EPPR=3.40005;GTI=0;LEN=1;MEANALT=3;MQM=39.4028;MQMR=39.9963;NS=1;NUMALT=1;ODDS=1246.19;PAIRED=0.957597;PAIREDR=0.974359;PAO=0;PQA=0;PQR=0;PRO=0;QA=8654;QR=8402;RO=273;RPL=130;RPP=7.06934;RPPR=50.1702;RPR=153;RUN=1;SAF=119;SAP=18.5482;SAR=164;SF=0,1;SRF=110;SRP=25.3534;SRR=163;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.1184;esp6500siv2_ea=0.1156;esp6500siv2_all=0.1184;esp6500siv2_ea=0.1156;1000g2015aug_all=0.0756789;avsnp147=rs35728190;Kaviar_AF=0.0913895;Kaviar_AC=14129;Kaviar_AN=154602;ExAC_ALL=0.0920;ExAC_AFR=0.1180;ExAC_AMR=0.0554;ExAC_EAS=0.0002;ExAC_FIN=0.1083;ExAC_NFE=0.1185;ExAC_OTH=0.1101;ExAC_SAS=0.0345;CLNALLELEID=140097;CLNDN=Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1794;dpsi_zscore=0.681;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0895;gnomAD_exome_AFR=0.1149;gnomAD_exome_AMR=0.0603;gnomAD_exome_ASJ=0.1218;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.1047;gnomAD_exome_NFE=0.1161;gnomAD_exome_OTH=0.1202;gnomAD_exome_SAS=0.0354;gnomAD_genome_ALL=0.1090;gnomAD_genome_AFR=0.1117;gnomAD_genome_AMR=0.0622;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0967;gnomAD_genome_NFE=0.1243;gnomAD_genome_OTH=0.1008;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-578.201,0,-555.713:571:273:283:8654:8402 . . . . 0/1:-759.901,0,-885.839:796:423:363:11626:12988 0/1:-1138.57,0,-975.632:1064:497:545:16879:15093 . . . . . . . . . . . . . 0/1:-1269.64,0,-1101.49:1167:547:610:19036:16865 . . . . . . . . 0/1:-862.885,0,-1051.38:954:501:436:13490:15649 . 1/1:-2533.78,-247.321,0:978:16:958:30116:519 0/1:-1273.71,0,-991.087:1123:502:598:18833:15526 . . 0/1:-700.248,0,-994.427:862:462:375:11276:14425 . . 0/1:-787.306,0,-920.005:830:447:374:11961:13752 . 0/1:-945.999,0,-1043.34:969:497:460:14452:15484 . . . 0/1:-567.835,0,-492.448:528:249:270:8518:7540 . . 0/1:-900.409,0,-1081.57:979:520:445:13967:15868 0/1:-1006.69,0,-876.962:957:450:497:15421:13666 0/1:-1133.39,0,-1259.65:1164:599:543:17117:18571 . 0/1:-735.05,0,-816.113:823:419:384:11591:12616 . . . 0/1:-712.438,0,-685.893:696:338:348:10854:10556 . . 0/1:-1153.29,0,-1357.05:1249:656:566:17863:20232 . . . . 0/1:-542.666,0,-558.359:565:284:273:8378:8602 . 1/1:-2100.47,-206.027,0:825:16:804:25098:462 . . . 1/1:-2565.36,-226.572,0:1015:27:974:30722:868 . . 0/1:-1032.84,0,-1194.22:1113:580:509:15899:17594 . 0/1:-1113.22,0,-1187.46:1114:564:535:16836:17502 0/1:-565.687,0,-731.524:655:349:293:8936:10672 . . . . 0/1:-846.028,0,-977.948:903:472:419:12949:14540 . . . . 0/1:-451.962,0,-546.888:500:255:232:7055:8104 . 0/1:-1256.39,0,-1148.08:1193:563:600:18669:17580 . . . . . . 0/1:-1053.98,0,-1120.88:1006:508:489:15696:16274:508,489 0/1:-1143.16,0,-1185.37:1085:539:526:16884:17334:539,526 . . 0/1:-1237.19,0,-1223.55:1128:560:559:18096:18153:560,559 . . 0/1:-1061.51,0,-1006.72:957:467:480:15629:14820:467,480 . . . . 1/1:-2432.6,-235.751,0:903:13:882:28494:381:13,882 0/1:-946.876,0,-953.776:882:442:431:13981:14160:442,431 . . . . . chr4 114286207 . T A 12874.97 . AB=0.460775;ABP=17.8307;AC=5;AF=0.5;AN=8;AO=511;CIGAR=1X;DP=4043;DPB=1109;DPRA=0;EPP=16.8168;EPPR=3.31408;GTI=0;LEN=1;MEANALT=3;MQM=39.1272;MQMR=40.323;NS=1;NUMALT=1;ODDS=2053.59;PAIRED=0.949119;PAIREDR=0.972366;PAO=0;PQA=0;PQR=0;PRO=0;QA=14636;QR=17190;RO=579;RPL=180;RPP=99.9022;RPPR=125.877;RPR=331;RUN=1;SAF=183;SAP=92.3551;SAR=328;SF=0;SRF=224;SRP=67.3706;SRR=355;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon40:c.T4646A:p.V1549D,ANK2:NM_001148:exon41:c.T10901A:p.V3634D,ANK2:NM_001127493:exon42:c.T4619A:p.V1540D;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0031;1000g2015aug_all=0.00199681;avsnp147=rs66785829;Kaviar_AF=0.0026067;Kaviar_AC=403;Kaviar_AN=154602;ExAC_ALL=0.0027;ExAC_AFR=0.0007;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0015;ExAC_NFE=0.0043;ExAC_OTH=0.0011;ExAC_SAS=0.0008;CLNALLELEID=78495;CLNDN=Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0011675,MedGen:C0855329,SNOMED_CT:248650006|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.399;SIFT_pred=T;Polyphen2_HDIV_score=0.14;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.23;Polyphen2_HVAR_pred=B;LRT_score=0.369;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.28;MutationAssessor_pred=L;FATHMM_score=-2.11;FATHMM_pred=D;PROVEAN_score=-1.76;PROVEAN_pred=N;VEST3_score=0.798;CADD_raw=4.753;CADD_phred=24.7;DANN_score=0.967;fathmm-MKL_coding_score=0.942;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.501;MetaSVM_pred=T;MetaLR_score=0.376;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.28;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.809;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=1.572;GDI_full_10282015=.;dpsi_max_tissue=1.4298;dpsi_zscore=1.747;hgmdCODING=HGMD::Cardiac_arrhythmia#17242276;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM070017#"Cardiac_arrhythmia";gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-920.996,0,-1151.87:1109:579:511:14636:17190 . 0/1:-1020.71,0,-967.849:1026:490:524:15415:14681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-817.946,0,-799.193:845:403:427:12509:12155 . . . 1/1:-2501.31,-244.322,0:1063:30:1014:29948:837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 114294308 . T C 12274.47 . AB=0.511243;ABP=3.93799;AC=44;AF=0.5;AN=82;AO=432;CIGAR=1X;DP=48522;DPB=845;DPRA=0;EPP=47.425;EPPR=39.5128;GTI=0;LEN=1;MEANALT=3;MQM=39.1921;MQMR=38.815;NS=1;NUMALT=1;ODDS=1822.69;PAIRED=0.967593;PAIREDR=0.9475;PAO=0;PQA=0;PQR=0;PRO=0;QA=13243;QR=12581;RO=400;RPL=242;RPP=16.6021;RPPR=57.2971;RPR=190;RUN=1;SAF=265;SAP=51.2853;SAR=167;SF=0,1;SRF=225;SRP=16.582;SRR=175;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon43:c.T5418C:p.H1806H,ANK2:NM_001148:exon44:c.T11673C:p.H3891H,ANK2:NM_001127493:exon45:c.T5391C:p.H1797H;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.3206;esp6500siv2_ea=0.1601;esp6500siv2_all=0.3206;esp6500siv2_ea=0.1601;1000g2015aug_all=0.313299;avsnp147=rs2293324;Kaviar_AF=0.194545;Kaviar_AC=30077;Kaviar_AN=154602;ExAC_ALL=0.1974;ExAC_AFR=0.6488;ExAC_AMR=0.1786;ExAC_EAS=0.1361;ExAC_FIN=0.1240;ExAC_NFE=0.1581;ExAC_OTH=0.1949;ExAC_SAS=0.1467;CLNALLELEID=140100;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.1791;dpsi_zscore=2.024;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1876;gnomAD_exome_AFR=0.6546;gnomAD_exome_AMR=0.1770;gnomAD_exome_ASJ=0.2044;gnomAD_exome_EAS=0.1388;gnomAD_exome_FIN=0.1213;gnomAD_exome_NFE=0.1561;gnomAD_exome_OTH=0.2092;gnomAD_exome_SAS=0.1473;gnomAD_genome_ALL=0.2908;gnomAD_genome_AFR=0.6378;gnomAD_genome_AMR=0.1790;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0.1502;gnomAD_genome_FIN=0.1133;gnomAD_genome_NFE=0.1617;gnomAD_genome_OTH=0.1724;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-876.174,0,-810.106:845:400:432:13243:12581 . . . . 0/1:-1198.79,0,-1273.93:1222:602:606:18177:18983 1/1:-3569.75,-382.69,0:1445:18:1410:42599:558 0/1:-1165.76,0,-1247.59:1209:598:596:17972:19029 . . . . . . . . . . . 0/1:-736.153,0,-890.115:831:432:389:11870:13638 0/1:-1547.27,0,-1655.54:1586:786:779:23747:25306 . . . . 0/1:-929.723,0,-1039.19:987:494:480:14341:15765 . . . . . 0/1:-1259.83,0,-1503.17:1367:695:647:19427:22240 0/1:-1241.77,0,-1509.58:1411:734:649:19513:22818 0/1:-645.084,0,-816.257:725:374:333:10014:12023 . 0/1:-1167.2,0,-1300.4:1244:624:609:18346:19591 0/1:-639.207,0,-698.127:680:342:325:9946:10625 . 0/1:-1087.11,0,-1138.87:1110:540:555:16486:17312 . 0/1:-1239.46,0,-1357.98:1275:638:614:18813:20391 . . . 0/1:-722.965,0,-773.261:739:369:361:10942:11655 . . 0/1:-1347.94,0,-1505.26:1415:717:674:20588:22569 0/1:-1046.66,0,-1183.06:1174:586:571:16737:18312 0/1:-1292.94,0,-1748.58:1503:807:677:20582:25660 . 0/1:-906.278,0,-906.29:925:445:466:13908:13909 . . . 0/1:-874.5,0,-878.715:879:426:443:13430:13441 . 0/1:-756.882,0,-849.937:808:401:390:11899:12788 0/1:-1491.41,0,-1812.88:1647:859:768:23014:27160 . . . . 1/1:-1727.46,-181.322,0:730:12:701:20798:389 . 0/1:-936.621,0,-1129.71:1033:525:497:14638:16813 . . . . . . 0/1:-1519.45,0,-1653.97:1614:809:786:23465:25220 0/1:-1316.26,0,-1461.19:1394:704:673:20413:21999 0/1:-1278.13,0,-1637.42:1464:773:673:20143:24273 0/1:-825.56,0,-863.316:826:404:411:12599:13046 . . . . 0/1:-1114,0,-1152.12:1104:545:545:16740:17478 . . . 0/1:-1245.35,0,-1631.09:1411:739:646:19362:23874 0/1:-684.425,0,-931.382:800:434:356:10857:13787 . 0/1:-1750.21,0,-1884.63:1800:893:878:26848:28339 . . . 0/1:-1402.88,0,-1684.5:1541:801:719:21730:24994 . 0/1:-1371.21,0,-1354.27:1275:636:630:20247:20068:636,630 0/1:-1133.79,0,-1215.4:1094:552:530:16940:17756:552,530 0/1:-1419.73,0,-1358.38:1303:622:666:20979:20077:622,666 . . 0/1:-1409.6,0,-1455.53:1359:675:669:20927:21544:675,669 . . 0/1:-1276.07,0,-1288.59:1215:595:602:18979:18977:595,602 0/1:-1159.34,0,-1264.23:1158:587:557:17469:18516:587,557 . . . 1/1:-2928.69,-284.11,0:1113:17:1084:34261:537:17,1084 0/1:-1399.7,0,-1285.58:1261:606:647:20463:19417:606,647 . . . . . chr4 114302547 . T C 9708.48 . AB=0.472197;ABP=10.3759;AC=1;AF=0.5;AN=2;AO=518;CIGAR=1X;DP=1097;DPB=1097;DPRA=0;EPP=24.7418;EPPR=20.8133;GTI=0;LEN=1;MEANALT=3;MQM=39.4286;MQMR=39.6915;NS=1;NUMALT=1;ODDS=2235.46;PAIRED=0.959459;PAIREDR=0.973404;PAO=0;PQA=0;PQR=0;PRO=0;QA=16075;QR=17907;RO=564;RPL=101;RPP=421.61;RPPR=422.289;RPR=417;RUN=1;SAF=350;SAP=141.867;SAR=168;SF=0;SRF=381;SRP=153.951;SRR=183;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs72675297;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1040.43,0,-1191.46:1097:564:518:16075:17907 . . . . . . . . . . . . . . . . . . . . . . . chr4 114302634 . C T 9366.96 . AB=0.490071;ABP=4.2177;AC=5;AF=0.5;AN=10;AO=691;CIGAR=1X;DP=5456;DPB=1410;DPRA=0;EPP=142.918;EPPR=81.3465;GTI=0;LEN=1;MEANALT=3;MQM=38.398;MQMR=39.1734;NS=1;NUMALT=1;ODDS=2919.86;PAIRED=0.947902;PAIREDR=0.934971;PAO=0;PQA=0;PQR=0;PRO=0;QA=20424;QR=21318;RO=692;RPL=447;RPP=132.51;RPPR=111.571;RPR=244;RUN=1;SAF=369;SAP=9.9521;SAR=322;SF=0,1;SRF=366;SRP=8.03105;SRR=326;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=ANK2;GeneDetail.refGene=NM_001127493:c.*7C>T,NM_001148:c.*7C>T,NM_020977:c.*7C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0322;esp6500siv2_ea=0.0347;esp6500siv2_all=0.0322;esp6500siv2_ea=0.0347;1000g2015aug_all=0.0177716;avsnp147=rs35446871;Kaviar_AF=0.0294045;Kaviar_AC=4546;Kaviar_AN=154602;ExAC_ALL=0.0289;ExAC_AFR=0.0258;ExAC_AMR=0.0230;ExAC_EAS=0;ExAC_FIN=0.0324;ExAC_NFE=0.0394;ExAC_OTH=0.0257;ExAC_SAS=0.0059;CLNALLELEID=140103;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0281;gnomAD_exome_AFR=0.0257;gnomAD_exome_AMR=0.0215;gnomAD_exome_ASJ=0.0493;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0349;gnomAD_exome_NFE=0.0373;gnomAD_exome_OTH=0.0336;gnomAD_exome_SAS=0.0058;gnomAD_genome_ALL=0.0273;gnomAD_genome_AFR=0.0281;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0367;gnomAD_genome_NFE=0.0282;gnomAD_genome_OTH=0.0276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1304.32,0,-1390.54:1410:692:691:20424:21318 . . . . . . . . . . . . 0/1:-561.148,0,-673.057:646:322:305:8811:10089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-612.427,0,-769.62:857:444:386:10755:12500 . . . . . . . . . . 0/1:-995.244,0,-1158.13:1133:577:532:15824:17708 . . . . . . . . . . . 0/1:-1410.98,0,-1546.55:1410:711:684:21245:22671:711,684 . . . . . . . . . . . . . . . . . . . chr4 120072187 . A G 6875.69 . AB=0;ABP=0;AC=8;AF=1;AN=14;AO=609;CIGAR=1X;DP=4478;DPB=641;DPRA=0;EPP=19.9863;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=40.2217;MQMR=41.625;NS=1;NUMALT=1;ODDS=709.87;PAIRED=0.985222;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=18155;QR=478;RO=16;RPL=445;RPP=284.556;RPPR=7.89611;RPR=164;RUN=1;SAF=282;SAP=10.2307;SAR=327;SF=0;SRF=9;SRP=3.55317;SRR=7;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon3:c.A237G:p.A79A;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0140;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0140;1000g2015aug_all=0.00379393;avsnp147=rs17851524;Kaviar_AF=0.0098446;Kaviar_AC=1522;Kaviar_AN=154602;ExAC_ALL=0.0099;ExAC_AFR=0.0022;ExAC_AMR=0.0071;ExAC_EAS=0;ExAC_FIN=0.0058;ExAC_NFE=0.0149;ExAC_OTH=0.0077;ExAC_SAS=0.0035;CLNALLELEID=40448;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0151;dpsi_zscore=0.103;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0094;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0077;gnomAD_exome_ASJ=0.0131;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0147;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0035;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0127;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . 1/1:-1524.98,-145.987,0:641:16:609:18155:478 . . 0/1:-663.027,0,-702.882:702:337:347:10035:10618 . . . . . . . . . . . . . . . . 0/1:-422.737,0,-563.611:525:273:238:6667:8470 0/1:-652.987,0,-707.863:706:346:343:9968:10716 . . . . . . . . . . . . . . . . . . . 0/1:-603.594,0,-726.752:676:347:312:9257:10803 . . . . . . . . . . . 0/1:-476.843,0,-574.903:551:274:261:7359:8622 . . . . . . . . . . . . . . . . . . . . 0/1:-607.068,0,-717.458:677:344:319:9293:10874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 120079159 . A G 1115.44 . AB=0;ABP=0;AC=131;AF=1;AN=186;AO=62;CIGAR=1X;DP=8240;DPB=68;DPRA=0;EPP=4.27115;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=37.129;MQMR=28.75;NS=1;NUMALT=1;ODDS=72.7795;PAIRED=0.983871;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=1685;QR=74;RO=4;RPL=22;RPP=14.358;RPPR=5.18177;RPR=40;RUN=1;SAF=50;SAP=53.5846;SAR=12;SF=0,1;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.5893;esp6500siv2_ea=0.7257;esp6500siv2_all=0.5893;esp6500siv2_ea=0.7257;1000g2015aug_all=0.546326;avsnp147=rs11721566;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;ExAC_ALL=0.6494;ExAC_AFR=0.3134;ExAC_AMR=0.6986;ExAC_EAS=0.6183;ExAC_FIN=0.7350;ExAC_NFE=0.7014;ExAC_OTH=0.6338;ExAC_SAS=0.5997;CLNALLELEID=40447;CLNDN=Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided;CLNDISDB=MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2763;dpsi_zscore=0.856;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6591;gnomAD_exome_AFR=0.3122;gnomAD_exome_AMR=0.6870;gnomAD_exome_ASJ=0.6414;gnomAD_exome_EAS=0.6180;gnomAD_exome_FIN=0.7315;gnomAD_exome_NFE=0.7092;gnomAD_exome_OTH=0.6581;gnomAD_exome_SAS=0.5958;gnomAD_genome_ALL=0.5932;gnomAD_genome_AFR=0.3215;gnomAD_genome_AMR=0.6802;gnomAD_genome_ASJ=0.63;gnomAD_genome_EAS=0.6154;gnomAD_genome_FIN=0.7314;gnomAD_genome_NFE=0.7063;gnomAD_genome_OTH=0.6640;Whole_Blood=Whole_Blood::0.336957::0.126671;Liver=Liver::0.309211::-0.423151;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-136.171,-13.8882,0:68:4:62:1685:74 0/1:-82.5686,0,-133.315:118:66:50:1386:1933 . 0/1:-44.7036,0,-60.159:57:28:28:767:914 0/1:-74.7881,0,-114.911:100:53:42:1210:1706 0/1:-74.3502,0,-112.007:96:54:41:1213:1662 0/1:-96.2229,0,-75.7784:88:37:48:1440:1188 0/1:-70.6792,0,-82.6608:93:44:42:1163:1275 0/1:-83.8288,0,-95.6337:96:49:42:1344:1442 0/1:-92.3977,0,-117.453:115:58:56:1502:1769 0/1:-93.7197,0,-73.9084:92:40:51:1423:1189 . 1/1:-175.457,-17.2848,0:78:2:70:2108:50 1/1:-167.594,-21.7418,0:75:1:72:2037:27 . 1/1:-254.712,-27.0676,0:124:5:112:3165:117 0/1:-50.8335,0,-52.8451:62:27:33:937:826 0/1:-134.374,0,-163.765:165:82:76:2196:2509 0/1:-85.6518,0,-96.5365:97:49:45:1348:1464 1/1:-145.454,-18.6639,0:63:0:62:1756:0 1/1:-162.727,-17.4173,0:68:2:65:1934:68 0/1:-80.8761,0,-152.163:125:71:52:1420:2211 0/1:-32.4967,0,-33.6161:49:23:23:557:648 0/1:-104.704,0,-93.5124:110:50:53:1579:1479 0/1:-104.582,0,-130.329:131:67:60:1716:2019 0/1:-68.4583,0,-77.8368:78:36:39:1142:1171 1/1:-128.354,-13.7612,0:64:2:56:1595:41 . 1/1:-125.412,-13.1876,0:71:5:63:1683:118 1/1:-148.865,-18.6639,0:64:0:62:1793:0 0/1:-60.518,0,-73.623:88:42:41:1073:1141 1/1:-247.28,-25.8213,0:109:2:104:2977:68 0/1:-59.3983,0,-98.5298:92:49:40:1084:1501 0/1:-86.3131,0,-85.3507:85:41:42:1288:1263 0/1:-54.2851,0,-130.224:110:64:39:1025:1925 0/1:-92.81,0,-86.9619:98:44:51:1412:1330 . 0/1:-90.6968,0,-83.3871:90:39:48:1356:1301 0/1:-77.2189,0,-109.522:105:59:42:1266:1723 1/1:-169.693,-20.47,0:69:0:68:1976:0 0/1:-86.2973,0,-80.955:99:45:49:1385:1345 0/1:-58.4186,0,-100.452:98:55:40:1107:1477 0/1:-84.7846,0,-52.46:77:33:43:1251:882 . . 1/1:-186.431,-23.1101,0:91:2:83:2278:28 1/1:-140.847,-16.2659,0:60:2:57:1698:50 1/1:-111.907,-12.6433,0:43:0:42:1288:0 1/1:-151.201,-17.3327,0:75:3:70:1808:100 . 0/1:-67.4869,0,-168.149:128:78:45:1220:2389 . 1/1:-216.216,-26.7917,0:94:0:89:2537:0 1/1:-276.176,-30.1891,0:119:2:113:3353:50 1/1:-146.631,-18.0618,0:62:0:60:1715:0 . 1/1:-212.502,-26.1815,0:96:1:90:2523:14 . 0/1:-39.5007,0,-90.1906:77:46:28:743:1371 0/1:-61.1754,0,-82.3001:77:39:36:1041:1190 0/1:-30.0481,0,-58.0421:48:29:17:536:837 1/1:-241.866,-30.1855,0:112:3:106:2958:82 0/1:-89.6208,0,-91.3403:100:49:48:1408:1486 0/1:-62.5504,0,-43.4162:61:27:32:945:819 0/1:-63.9467,0,-115.93:102:59:39:1107:1793 1/1:-281.284,-35.2205,0:119:0:117:3450:0 0/1:-39.1675,0,-27.0296:39:15:20:624:474 0/1:-86.8863,0,-124.582:109:58:46:1410:1787 0/1:-67.102,0,-70.3915:75:35:38:1046:1065 . 1/1:-181.492,-22.5644,0:93:2:84:2261:46 . . 1/1:-142.521,-18.7345,0:74:3:68:1812:73 . . 0/1:-68.0876,0,-141.815:112:69:40:1194:2073 1/1:-228.577,-25.2444,0:95:1:91:2748:27 0/1:-56.4781,0,-83.3529:75:42:30:886:1239 0/1:-67.5052,0,-93.5007:86:47:37:1087:1401 1/1:-189.505,-18.0318,0:84:2:78:2315:68 0/1:-84.1606,0,-103.872:108:54:49:1383:1636 1/1:-257.52,-28.0585,0:122:3:113:3175:77 . 0/1:-70.8006,0,-90.7716:85:45:36:1137:1403 . 0/1:-53.8585,0,-47.968:54:24:28:830:722 0/1:-128.821,0,-110.667:136:66:67:1976:1916 0/1:-38.3918,0,-75.8373:61:37:23:686:1080 0/1:-91.9191,0,-58.2502:86:37:46:1354:1113 1/1:-239.367,-21.3055,0:113:4:103:3050:127 1/1:-170.388,-20.47,0:72:0:68:2004:0 1/1:-188.684,-23.5369,0:83:1:78:2239:32 0/1:-67.8167,0,-111.299:103:57:40:1150:1640 1/1:-251.719,-32.502,0:118:1:111:3055:14 . 0/1:-88.1155,0,-100.962:89:47:41:1314:1484:47,41 1/1:-257.8,-26.9018,0:102:1:99:3034:36:1,99 0/1:-74.312,0,-112.857:92:54:37:1152:1633:54,37 0/1:-77.7822,0,-39.0892:55:20:34:1077:628:20,34 1/1:-171.837,-20.169,0:69:0:67:1980:0:0,67 0/1:-113.308,0,-110.542:103:51:52:1639:1666:51,52 1/1:-232.839,-27.0927,0:92:0:90:2682:0:0,90 1/1:-275.057,-28.7371,0:110:1:104:3205:32:1,104 1/1:-221.305,-22.3768,0:83:1:79:2547:21:1,79 0/1:-67.1018,0,-74.4868:65:33:31:980:1083:33,31 . 0/1:-79.5879,0,-86.0244:79:41:36:1166:1302:41,36 . 1/1:-196.303,-22.2762,0:74:0:74:2238:0:0,74 . 0/1:-94.3375,0,-100.215:92:46:44:1425:1539:46,44 . 0/1:-50.0201,0,-93.6259:72:44:27:819:1327:44,27 1/1:-203.253,-20.2199,0:76:2:74:2373:28:2,74 1/1:-189.351,-20.9855,0:73:1:71:2217:32:1,71 chr4 120085448 . A G 12315.07 . AB=0.530283;ABP=8.92851;AC=11;AF=0.5;AN=20;AO=394;CIGAR=1X;DP=9693;DPB=743;DPRA=0;EPP=69.6977;EPPR=41.9066;GTI=0;LEN=1;MEANALT=3;MQM=39.8706;MQMR=40.2931;NS=1;NUMALT=1;ODDS=1422.45;PAIRED=0.959391;PAIREDR=0.990937;PAO=0;PQA=0;PQR=0;PRO=0;QA=11202;QR=9886;RO=331;RPL=184;RPP=6.73597;RPPR=4.119;RPR=210;RUN=1;SAF=216;SAP=10.9687;SAR=178;SF=0,1;SRF=172;SRP=4.119;SRR=159;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon5:c.A459G:p.E153E;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0248;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0248;1000g2015aug_all=0.0838658;avsnp147=rs7687613;Kaviar_AF=0.0428714;Kaviar_AC=6628;Kaviar_AN=154602;ExAC_ALL=0.0443;ExAC_AFR=0.1769;ExAC_AMR=0.0360;ExAC_EAS=0.0339;ExAC_FIN=0.0212;ExAC_NFE=0.0251;ExAC_OTH=0.0474;ExAC_SAS=0.0594;CLNALLELEID=40446;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0890;dpsi_zscore=0.449;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0420;gnomAD_exome_AFR=0.1786;gnomAD_exome_AMR=0.0361;gnomAD_exome_ASJ=0.0329;gnomAD_exome_EAS=0.0357;gnomAD_exome_FIN=0.0222;gnomAD_exome_NFE=0.0257;gnomAD_exome_OTH=0.0387;gnomAD_exome_SAS=0.0611;gnomAD_genome_ALL=0.0673;gnomAD_genome_AFR=0.1711;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0382;gnomAD_genome_FIN=0.0220;gnomAD_genome_NFE=0.0257;gnomAD_genome_OTH=0.0275;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-751.342,0,-630.687:743:331:394:11202:9886 . . 0/1:-916.953,0,-991.907:1021:504:486:14104:15182 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1172.58,0,-1207.55:1287:609:639:18052:18375 . . . . . . . . . . . 0/1:-935.648,0,-888.463:950:443:490:14111:13573 0/1:-1194.86,0,-1334.22:1331:663:640:18408:20051 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-856.029,0,-1067.43:1026:523:467:13419:15835 . . . . . . . . 0/1:-700.063,0,-577.523:687:307:363:10467:9097 0/1:-530.139,0,-779.806:691:370:298:8634:11315 . . . . . . 0/1:-700.698,0,-758.666:789:388:386:10832:11581 . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-3125.16,-330.744,0:1168:7:1149:36077:204:7,1149 . . . chr4 120107098 . GTTTTTTTTTTA GTTTTTTTTTTTA 361.86 . AB=0;ABP=0;AC=50;AF=1;AN=90;AO=73;CIGAR=1M1I11M;DP=3729;DPB=112;DPRA=0;EPP=68.7196;EPPR=14.8328;GTI=0;LEN=1;MEANALT=15;MQM=39.7945;MQMR=41.1111;NS=1;NUMALT=1;ODDS=55.9222;PAIRED=0.986301;PAIREDR=1;PAO=2.5;PQA=58.5;PQR=58.5;PRO=2.5;QA=1800;QR=280;RO=9;RPL=60;RPP=68.7196;RPPR=14.8328;RPR=13;RUN=1;SAF=73;SAP=161.528;SAR=0;SF=0;SRF=9;SRP=22.5536;SRR=0;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.2764;esp6500siv2_ea=0.1878;esp6500siv2_all=0.2764;esp6500siv2_ea=0.1878;1000g2015aug_all=0.240216;avsnp147=rs112369914;Kaviar_AF=0.0057502;Kaviar_AC=889;Kaviar_AN=154602;ExAC_ALL=0.2853;ExAC_AFR=0.4766;ExAC_AMR=0.2976;ExAC_EAS=0.2077;ExAC_FIN=0.2464;ExAC_NFE=0.2616;ExAC_OTH=0.2642;ExAC_SAS=0.3013;CLNALLELEID=54951;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2664;gnomAD_exome_AFR=0.4498;gnomAD_exome_AMR=0.2798;gnomAD_exome_ASJ=0.2433;gnomAD_exome_EAS=0.1886;gnomAD_exome_FIN=0.2731;gnomAD_exome_NFE=0.2415;gnomAD_exome_OTH=0.2549;gnomAD_exome_SAS=0.2910;gnomAD_genome_ALL=0.2823;gnomAD_genome_AFR=0.4709;gnomAD_genome_AMR=0.2520;gnomAD_genome_ASJ=0.2431;gnomAD_genome_EAS=0.1519;gnomAD_genome_FIN=0.2216;gnomAD_genome_NFE=0.2039;gnomAD_genome_OTH=0.2389;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 1/1:-133.877,-2.84984,0:101:9:73:1800:280 1/1:-156.603,-14.9282,0:91:4:68:1870:113 . 0/1:-40.05,0,-47.7:73:27:28:674:754 0/1:-57.1693,0,-61.699:81:33:34:905:967 . 0/1:-43.0842,0,-45.8266:67:24:27:682:709 . 0/1:-57.9907,0,-49.4337:80:29:37:944:836 0/1:-77.6859,0,-2.76387:75:8:47:1107:251 0/1:-107.646,0,-3.36051:81:11:58:1515:325 . . 1/1:-111.596,-12.059,0:64:2:49:1329:64 . 0/1:-47.0077,0,-54.0872:69:27:27:745:812 0/1:-44.3475,0,-128.361:128:64:36:904:1923 0/1:-35.097,0,-85.4456:81:42:27:690:1253 . . . . 0/1:-36.9507,0,-67.0445:77:35:29:667:1016 0/1:-47.5248,0,-107.171:100:53:34:881:1580 0/1:-37.4218,0,-48.1809:78:27:31:664:790 . 0/1:-21.2814,0,-85.0211:77:45:22:519:1237 . . 0/1:-58.938,0,-51.682:79:28:37:937:846 . 0/1:-52.0999,0,-78.1584:97:40:36:905:1199 0/1:-59.5547,0,-79.8851:97:40:40:962:1194 0/1:-65.7366,0,-79.3326:96:41:41:1091:1244 . . . 0/1:-48.8101,0,-81.3543:81:40:29:816:1172 . 0/1:-30.4395,0,-84.3109:90:42:28:645:1265 . . 0/1:-34.7718,0,-59.9629:75:34:25:686:989 0/1:-41.2668,0,-109.434:110:53:32:797:1568 . . . . . . . . . . 0/1:-68.2777,0,-5.66626:61:8:36:964:254 . 1/1:-56.4384,-6.61956,0:44:4:31:732:105 . 0/1:-21.3968,0,-59.5847:62:30:19:425:862 . 0/1:-64.5522,0,-90.9273:109:49:40:1099:1404 . 0/1:-49.7038,0,-71.5349:84:37:34:821:1074 0/1:-39.3427,0,-60.3202:72:31:24:656:887 . 0/1:-50.8398,0,-16.0099:50:11:26:733:337 . 0/1:-42.2198,0,-47.3617:62:24:29:690:744 0/1:-32.407,0,-63.1675:72:33:22:584:942 . 0/1:-56.3465,0,-104.59:93:50:34:931:1505 0/1:-38.0228,0,-79.9566:91:40:28:720:1234 . 0/1:-117.278,0,-4.42098:102:12:69:1630:333 1/1:-123.57,-10.8505,0:87:6:66:1593:182 0/1:-60.7196,0,-77.551:92:39:37:994:1190 . . . 0/1:-48.7712,0,-68.9664:81:40:33:854:1146 0/1:-53.0457,0,-110.829:112:57:37:969:1693 . . . 0/1:-43.0868,0,-62.9844:77:33:27:707:972 . 0/1:-60.8159,0,-66.3279:90:35:38:984:1063 0/1:-40.4324,0,-41.8266:50:22:24:656:679 . . . 0/1:-42.1364,0,-76.0203:87:39:30:730:1131 . 0/1:-61.2329,0,-99.6255:103:48:39:1003:1447 . . . . . . . . . . . . . . . . . . . . . chr4 186064502 . G A 3894.64 . AB=0.430769;ABP=38.1882;AC=7;AF=0.5;AN=14;AO=364;CIGAR=1X;DP=4866;DPB=845;DPRA=0;EPP=4.17955;EPPR=8.61347;GTI=0;LEN=1;MEANALT=3;MQM=32.9423;MQMR=34.404;NS=1;NUMALT=1;ODDS=932.06;PAIRED=0.909341;PAIREDR=0.879464;PAO=0;PQA=0;PQR=0;PRO=0;QA=8798;QR=13632;RO=448;RPL=83;RPP=236.885;RPPR=163.564;RPR=281;RUN=1;SAF=222;SAP=41.19;SAR=142;SF=0,1;SRF=262;SRP=31.0068;SRR=186;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=SLC25A4;GeneDetail.refGene=NM_001151:c.-25G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0345;esp6500siv2_ea=0.0099;esp6500siv2_all=0.0345;esp6500siv2_ea=0.0099;1000g2015aug_all=0.0788738;avsnp147=rs3733652;Kaviar_AF=0.0132857;Kaviar_AC=2054;Kaviar_AN=154602;ExAC_ALL=0.0551;ExAC_AFR=0.0932;ExAC_AMR=0.0914;ExAC_EAS=0.1048;ExAC_FIN=0.0357;ExAC_NFE=0.0167;ExAC_OTH=0.0536;ExAC_SAS=0.0729;CLNALLELEID=142856;CLNDN=not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions;CLNDISDB=MedGen:CN169374|MedGen:CN239267;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=HGMD::SANDO#23524600;hgmdPROM=.;hgmdPRO=id:CR133451#"SANDO";gnomAD_exome_ALL=0.0487;gnomAD_exome_AFR=0.0997;gnomAD_exome_AMR=0.0972;gnomAD_exome_ASJ=0.0239;gnomAD_exome_EAS=0.0889;gnomAD_exome_FIN=0.0540;gnomAD_exome_NFE=0.0102;gnomAD_exome_OTH=0.0359;gnomAD_exome_SAS=0.0704;gnomAD_genome_ALL=0.0497;gnomAD_genome_AFR=0.0983;gnomAD_genome_AMR=0.0929;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0946;gnomAD_genome_FIN=0.0555;gnomAD_genome_NFE=0.0144;gnomAD_genome_OTH=0.0399;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-442.949,0,-814.404:845:448:364:8798:13632 . . . 0/1:-181.483,0,-529.806:483:292:168:4139:9061 . . 0/1:-259.166,0,-374.764:459:219:212:5069:6600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-447.992,0,-836.243:869:453:375:9102:13876 . 0/1:-471.143,0,-791.577:816:434:341:8876:13199 . . . . . 0/1:-736.358,0,-737.938:718:349:350:10878:11077:349,350 . . . . . . . 0/1:-628.351,0,-768.159:676:347:319:9678:11200:347,319 . . . . . . . . . chr4 186064670 . G T 21.61 . AB=0.333333;ABP=5.18177;AC=1;AF=0.5;AN=2;AO=3;CIGAR=1X;DP=9;DPB=9;DPRA=0;EPP=9.52472;EPPR=16.0391;GTI=0;LEN=1;MEANALT=1;MQM=29.3333;MQMR=15.6667;NS=1;NUMALT=1;ODDS=4.96815;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=47;QR=136;RO=6;RPL=3;RPP=9.52472;RPPR=16.0391;RPR=0;RUN=1;SAF=3;SAP=9.52472;SAR=0;SF=0;SRF=6;SRP=16.0391;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SLC25A4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1.56627,0,-2.1179:9:6:3:47:136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186066020 . A G 3347.82 . AB=0.47646;ABP=5.56618;AC=1;AF=0.5;AN=2;AO=253;CIGAR=1X;DP=531;DPB=531;DPRA=0;EPP=203.927;EPPR=148.133;GTI=0;LEN=1;MEANALT=3;MQM=30.9842;MQMR=33.755;NS=1;NUMALT=1;ODDS=770.863;PAIRED=0.932806;PAIREDR=0.943775;PAO=0;PQA=0;PQR=0;PRO=0;QA=6912;QR=7266;RO=249;RPL=166;RPP=56.5761;RPPR=37.623;RPR=87;RUN=1;SAF=144;SAP=13.5243;SAR=109;SF=0;SRF=128;SRP=3.43762;SRR=121;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLC25A4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLC25A4:NM_001151:exon2:c.A214G:p.R72G;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.934;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.73;MutationAssessor_pred=H;FATHMM_score=-1.57;FATHMM_pred=D;PROVEAN_score=-6.06;PROVEAN_pred=D;VEST3_score=0.976;CADD_raw=6.039;CADD_phred=28.0;DANN_score=0.999;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_pred=D;MetaSVM_score=0.998;MetaSVM_pred=D;MetaLR_score=0.843;MetaLR_pred=D;integrated_fitCons_score=0.742;integrated_confidence_value=0;GERP++_RS=5.37;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.193;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.542;GDI_full_10282015=.;dpsi_max_tissue=-0.9443;dpsi_zscore=-1.438;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-370.056,0,-405.193:531:249:253:6912:7266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186066373 . T C 7206.17 . AB=0.49144;ABP=3.64228;AC=2;AF=0.5;AN=4;AO=488;CIGAR=1X;DP=1802;DPB=993;DPRA=0;EPP=10.1299;EPPR=31.3029;GTI=0;LEN=1;MEANALT=3;MQM=35.8504;MQMR=36.1461;NS=1;NUMALT=1;ODDS=1940.65;PAIRED=0.92418;PAIREDR=0.851775;PAO=0;PQA=0;PQR=0;PRO=0;QA=14242;QR=14667;RO=479;RPL=289;RPP=39.0532;RPPR=21.0031;RPR=199;RUN=1;SAF=259;SAP=7.01506;SAR=229;SF=0;SRF=250;SRP=5.00951;SRR=229;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLC25A4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLC25A4:NM_001151:exon2:c.T567C:p.A189A;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0105;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0105;1000g2015aug_all=0.00239617;avsnp147=rs149101873;Kaviar_AF=0.0085963;Kaviar_AC=1329;Kaviar_AN=154602;ExAC_ALL=0.0086;ExAC_AFR=0.0027;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0200;ExAC_NFE=0.0109;ExAC_OTH=0.0111;ExAC_SAS=0.0075;CLNALLELEID=211025;CLNDN=not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions;CLNDISDB=MedGen:CN169374|MedGen:CN239267;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1195;dpsi_zscore=0.540;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0089;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0237;gnomAD_exome_NFE=0.0112;gnomAD_exome_OTH=0.0069;gnomAD_exome_SAS=0.0071;gnomAD_genome_ALL=0.0108;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0232;gnomAD_genome_NFE=0.0143;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-855.48,0,-880.134:993:479:488:14242:14667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-607.986,0,-787.745:809:416:365:10495:12951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186066953 . C A 28.06 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41;MQMR=0;NS=1;NUMALT=1;ODDS=6.45866;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=50;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLC25A4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLC25A4:NM_001151:exon3:c.C639A:p.S213R;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.043;SIFT_pred=D;Polyphen2_HDIV_score=0.569;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.228;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.145;MutationAssessor_pred=M;FATHMM_score=-1.32;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_pred=D;VEST3_score=0.934;CADD_raw=5.420;CADD_phred=26.0;DANN_score=0.998;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.043;MetaSVM_pred=T;MetaLR_score=0.457;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.919;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.372;GDI_full_10282015=.;dpsi_max_tissue=-0.7111;dpsi_zscore=-1.279;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.61114,-0.60206,0:2:0:2:50:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186066962 . TGC TC 41.16 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1M1D1M;DP=2;DPB=1.33333;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=57;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLC25A4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SLC25A4:NM_001151:exon3:c.649delG:p.A217fs;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-5.31933,-0.60206,0:2:0:2:57:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186066991 . TGG TG 47.98 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1M1D1M;DP=2;DPB=1.33333;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=64;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLC25A4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SLC25A4:NM_001151:exon3:c.679delG:p.V227fs;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . 1/1:-6.0014,-0.60206,0:2:0:2:64:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186423436 . G A 51.99 . AB=0.8;ABP=6.91895;AC=1;AF=0.5;AN=2;AO=4;CIGAR=1X;DP=5;DPB=5;DPRA=0;EPP=5.18177;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.5;MQMR=24;NS=1;NUMALT=1;ODDS=6.54139;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=99;QR=36;RO=1;RPL=0;RPP=11.6962;RPPR=5.18177;RPR=4;RUN=1;SAF=3;SAP=5.18177;SAR=1;SF=0;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_001114107:c.*12C>T,NM_014476:c.*12C>T,NM_001257963:c.*12C>T,NM_001257962:c.*12C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0129;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0129;1000g2015aug_all=0.00858626;avsnp147=rs8315;Kaviar_AF=0.0109442;Kaviar_AC=1692;Kaviar_AN=154602;ExAC_ALL=0.0111;ExAC_AFR=0.0022;ExAC_AMR=0.0045;ExAC_EAS=0.0001;ExAC_FIN=0.0023;ExAC_NFE=0.0131;ExAC_OTH=0.0033;ExAC_SAS=0.0231;CLNALLELEID=142379;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0111;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0060;gnomAD_exome_ASJ=0.0344;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0019;gnomAD_exome_NFE=0.0120;gnomAD_exome_OTH=0.0120;gnomAD_exome_SAS=0.0232;gnomAD_genome_ALL=0.0080;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0031;gnomAD_genome_NFE=0.0125;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-7.5717,0,-0.86838:5:1:4:99:36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186423612 . T G 24.88 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=33;MQMR=0;NS=1;NUMALT=1;ODDS=5.72582;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=46;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon5:c.A430C:p.K144Q,PDLIM3:NM_001114107:exon7:c.A787C:p.K263Q,PDLIM3:NM_001257962:exon7:c.A667C:p.K223Q,PDLIM3:NM_014476:exon8:c.A931C:p.K311Q;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.83;MutationAssessor_pred=L;FATHMM_score=-2.47;FATHMM_pred=D;PROVEAN_score=-2.46;PROVEAN_pred=N;VEST3_score=0.74;CADD_raw=6.529;CADD_phred=31;DANN_score=0.996;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=0.712;MetaSVM_pred=D;MetaLR_score=0.781;MetaLR_pred=D;integrated_fitCons_score=0.626;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=15.902;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.29287,-0.60206,0:2:0:2:46:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186423636 . CG CA 82.46 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=7;CIGAR=1M1X;DP=7;DPB=7;DPRA=0;EPP=18.2106;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=38.8571;MQMR=0;NS=1;NUMALT=1;ODDS=14.3092;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=127;QR=0;RO=0;RPL=4;RPP=3.32051;RPPR=0;RPR=3;RUN=1;SAF=4;SAP=3.32051;SAR=3;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PDLIM3:NM_001257963:exon5:c.405delC:p.V135fs,PDLIM3:NM_001114107:exon7:c.762delC:p.V254fs,PDLIM3:NM_001257962:exon7:c.642delC:p.V214fs,PDLIM3:NM_014476:exon8:c.906delC:p.V302fs;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-11.4798,-2.10721,0:7:0:7:127:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186423637 . GCTGT ACTGT 98.87 . AB=0.625;ABP=4.09604;AC=110;AF=0.5;AN=120;AO=5;CIGAR=1X;DP=392;DPB=8;DPRA=0;EPP=3.44459;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=33;MQMR=30;NS=1;NUMALT=1;ODDS=0.199534;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=124;QR=82;RO=3;RPL=3;RPP=3.44459;RPPR=3.73412;RPR=2;RUN=1;SAF=1;SAP=6.91895;SAR=4;SF=0;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon5:c.C405T:p.V135V,PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_001257962:exon7:c.C642T:p.V214V,PDLIM3:NM_014476:exon8:c.C906T:p.V302V;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.6967;esp6500siv2_ea=0.8535;esp6500siv2_all=0.6967;esp6500siv2_ea=0.8535;1000g2015aug_all=0.659545;avsnp147=rs4635850;Kaviar_AF=0.778496;Kaviar_AC=120357;Kaviar_AN=154602;ExAC_ALL=0.7830;ExAC_AFR=0.3708;ExAC_AMR=0.7549;ExAC_EAS=0.8066;ExAC_FIN=0.8770;ExAC_NFE=0.8484;ExAC_OTH=0.7881;ExAC_SAS=0.7463;CLNALLELEID=142378;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7885;gnomAD_exome_AFR=0.3658;gnomAD_exome_AMR=0.7502;gnomAD_exome_ASJ=0.7502;gnomAD_exome_EAS=0.8093;gnomAD_exome_FIN=0.8744;gnomAD_exome_NFE=0.8525;gnomAD_exome_OTH=0.7823;gnomAD_exome_SAS=0.7478;gnomAD_genome_ALL=0.7177;gnomAD_genome_AFR=0.3719;gnomAD_genome_AMR=0.7792;gnomAD_genome_ASJ=0.7450;gnomAD_genome_EAS=0.8156;gnomAD_genome_FIN=0.8817;gnomAD_genome_NFE=0.8604;gnomAD_genome_OTH=0.8;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:.,.,-4.02461:8:3:5:124:82 1/1:.,.,0:6:0:5:132:0 0/1:.,.,-2.67743:4:2:2:72:41 1/1:.,.,0:8:0:8:188:0 1/1:.,.,0:4:0:4:87:0 . . . 1/1:.,.,0:5:0:5:148:0 1/1:.,.,0:7:0:7:239:0 . . 1/1:.,.,0:4:0:3:64:0 1/1:.,.,0:2:0:2:50:0 . 1/1:.,.,0:3:0:3:82:0 . 1/1:.,.,0:5:0:5:135:0 1/1:.,.,0:5:0:4:96:0 1/1:.,.,0:6:0:6:207:0 1/1:.,.,0:5:0:5:136:0 . . 0/1:.,.,-4.52208:6:2:4:100:68 . 1/1:.,.,0:9:0:9:250:0 . 1/1:.,.,0:6:0:6:150:0 . . . . 1/1:.,.,0:4:0:4:100:0 . 0/1:.,.,-2.50216:6:2:4:114:46 . . . . . 1/1:.,.,0:7:0:7:186:0 . . 1/1:.,.,0:17:0:17:430:0 1/1:.,.,0:8:0:5:120:0 1/1:.,.,0:10:0:10:264:0 1/1:.,.,0:8:1:7:133:21 1/1:.,.,0:2:0:2:68:0 . 1/1:.,.,0:6:0:6:186:0 1/1:.,.,0:4:0:4:116:0 1/1:.,.,0:9:1:8:245:14 1/1:.,.,0:7:0:7:199:0 . 1/1:.,.,0:5:0:5:162:0 1/1:.,.,0:6:0:6:204:0 . . 1/1:.,.,0:3:0:3:73:0 1/1:.,.,0:5:0:5:114:0 0/1:.,.,-6.06685:7:3:4:113:89 1/1:.,.,0:6:0:4:69:0 1/1:.,.,0:7:0:7:191:0 0/1:.,.,-0.579296:7:1:6:181:27 1/1:.,.,0:4:0:4:114:0 1/1:.,.,0:4:0:4:118:0 . . 1/1:.,.,0:5:0:4:114:0 1/1:.,.,0:7:1:5:176:14 1/1:.,.,0:13:0:13:370:0 1/1:.,.,0:9:0:8:213:0 1/1:.,.,0:3:0:3:60:0 1/1:.,.,0:9:0:9:214:0 . 1/1:.,.,0:7:0:7:173:0 1/1:.,.,0:11:0:11:291:0 1/1:.,.,0:7:0:6:145:0 1/1:.,.,0:14:0:13:341:0 0/1:.,.,-4.39396:8:3:4:122:86 1/1:.,.,0:5:0:5:127:0 . . . 1/1:.,.,0:3:0:3:77:0 1/1:.,.,0:3:0:3:86:0 1/1:.,.,0:14:1:11:272:36 1/1:.,.,0:2:0:2:64:0 . 0/1:.,.,-11.3513:12:6:6:176:166 0/1:.,.,-1.48239:4:1:3:82:27 0/1:.,.,-1.17365:5:1:4:131:27 1/1:-7.19267,-1.80618,0:8:0:4:88:0 1/1:.,.,0:8:0:8:218:0 . . . . . . . . . . . . . . . . . . . . . chr4 186423655 . G A 66.93 . AB=0;ABP=0;AC=12;AF=1;AN=16;AO=3;CIGAR=1X;DP=57;DPB=3;DPRA=0;EPP=9.52472;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=29.3333;MQMR=0;NS=1;NUMALT=1;ODDS=6.34778;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=60;QR=0;RO=0;RPL=0;RPP=9.52472;RPPR=0;RPR=3;RUN=1;SAF=0;SAP=9.52472;SAR=3;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.1199;esp6500siv2_ea=0.1602;esp6500siv2_all=0.1199;esp6500siv2_ea=0.1602;1000g2015aug_all=0.139177;avsnp147=rs12644280;Kaviar_AF=0.156382;Kaviar_AC=24177;Kaviar_AN=154602;ExAC_ALL=0.1563;ExAC_AFR=0.0361;ExAC_AMR=0.1905;ExAC_EAS=0.3016;ExAC_FIN=0.1350;ExAC_NFE=0.1615;ExAC_OTH=0.1208;ExAC_SAS=0.1206;CLNALLELEID=142377;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1585;gnomAD_exome_AFR=0.0361;gnomAD_exome_AMR=0.1852;gnomAD_exome_ASJ=0.1315;gnomAD_exome_EAS=0.3063;gnomAD_exome_FIN=0.1294;gnomAD_exome_NFE=0.1637;gnomAD_exome_OTH=0.1490;gnomAD_exome_SAS=0.1201;gnomAD_genome_ALL=0.1340;gnomAD_genome_AFR=0.0394;gnomAD_genome_AMR=0.1635;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.3171;gnomAD_genome_FIN=0.1391;gnomAD_genome_NFE=0.1652;gnomAD_genome_OTH=0.1534;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 1/1:-5.46608,-0.90309,0:3:0:3:60:0 . . . . . . . 1/1:-7.12288,-0.405572,0:4:1:3:87:32 . . . . . . 1/1:-5.33413,-0.90309,0:4:0:3:78:0 . . . . . . . . . . . . . . . 1/1:-16.8484,-0.862151,0:13:1:10:281:27 . . . . . . . 0/1:-15.4007,0,-0.721036:10:2:7:215:50 . . . . . . . . . . . . . . . . 0/1:-6.31917,0,-2.29858:4:1:3:82:36 . 0/1:-9.57562,0,-14.0047:15:7:7:167:217 . . . . . . . . . . . . . . . . . . . . 0/1:-6.9471,0,-1.93203:4:1:3:89:32 . . . . . . . . . . . . . . . . . . . . . . . chr4 186425638 . C T 5623.11 . AB=0.409972;ABP=53.8384;AC=1;AF=0.5;AN=2;AO=296;CIGAR=1X;DP=722;DPB=722;DPRA=0;EPP=3.47981;EPPR=4.50805;GTI=0;LEN=1;MEANALT=3;MQM=39.6723;MQMR=40.3484;NS=1;NUMALT=1;ODDS=1294.77;PAIRED=0.966216;PAIREDR=0.976134;PAO=0;PQA=0;PQR=0;PRO=0;QA=9372;QR=13549;RO=419;RPL=101;RPP=67.8317;RPPR=53.8041;RPR=195;RUN=1;SAF=155;SAP=4.44817;SAR=141;SF=1;SRF=228;SRP=10.1052;SRR=191;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon4:c.G395A:p.S132N,PDLIM3:NM_001114107:exon6:c.G752A:p.S251N,PDLIM3:NM_001257962:exon6:c.G632A:p.S211N,PDLIM3:NM_014476:exon7:c.G896A:p.S299N;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000199681;avsnp147=rs143812960;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=9.948e-05;ExAC_AFR=0;ExAC_AMR=8.702e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=198164;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.723;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.56;MutationAssessor_pred=N;FATHMM_score=-2.25;FATHMM_pred=D;PROVEAN_score=0.31;PROVEAN_pred=N;VEST3_score=0.099;CADD_raw=2.167;CADD_phred=17.29;DANN_score=0.917;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.715;MetaSVM_pred=T;MetaLR_score=0.285;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.69;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=9.082;GDI_full_10282015=.;dpsi_max_tissue=0.2601;dpsi_zscore=0.830;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.49e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.455e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-581.213,0,-953.345:722:419:296:9372:13549:419,296 . . . . . . . . . . chr4 186427735 . G A 699.66 . AB=0.447674;ABP=7.10075;AC=3;AF=0.5;AN=6;AO=77;CIGAR=1X;DP=439;DPB=172;DPRA=0;EPP=3.26411;EPPR=3.0347;GTI=0;LEN=1;MEANALT=3;MQM=30.3377;MQMR=33.1798;NS=1;NUMALT=1;ODDS=202.497;PAIRED=0.805195;PAIREDR=0.831461;PAO=0;PQA=0;PQR=0;PRO=0;QA=2027;QR=2708;RO=89;RPL=26;RPP=20.6359;RPPR=32.8985;RPR=51;RUN=1;SAF=47;SAP=11.1604;SAR=30;SF=0;SRF=56;SRP=15.9171;SRR=33;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon3:c.C233T:p.T78I,PDLIM3:NM_001114107:exon5:c.C590T:p.T197I,PDLIM3:NM_001257962:exon5:c.C470T:p.T157I,PDLIM3:NM_014476:exon6:c.C734T:p.T245I;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0148;esp6500siv2_ea=0.0210;esp6500siv2_all=0.0148;esp6500siv2_ea=0.0210;1000g2015aug_all=0.00559105;avsnp147=rs62347360;Kaviar_AF=0.0175095;Kaviar_AC=2707;Kaviar_AN=154602;ExAC_ALL=0.0172;ExAC_AFR=0.0041;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0458;ExAC_NFE=0.0242;ExAC_OTH=0.0122;ExAC_SAS=0.0040;CLNALLELEID=40499;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.049;SIFT_pred=D;Polyphen2_HDIV_score=0.075;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.128;Polyphen2_HVAR_pred=B;LRT_score=0.048;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=2.14;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_pred=N;VEST3_score=0.041;CADD_raw=1.346;CADD_phred=12.51;DANN_score=0.974;fathmm-MKL_coding_score=0.179;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.058;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.09;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.427;phastCons20way_mammalian=0.007;SiPhy_29way_logOdds=11.367;GDI_full_10282015=.;dpsi_max_tissue=0.3187;dpsi_zscore=0.917;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0177;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0056;gnomAD_exome_ASJ=0.0040;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0492;gnomAD_exome_NFE=0.0253;gnomAD_exome_OTH=0.0137;gnomAD_exome_SAS=0.0038;gnomAD_genome_ALL=0.0217;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0495;gnomAD_genome_NFE=0.0287;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . 0/1:-97.0746,0,-154.318:172:89:77:2027:2708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-86.2622,0,-152.543:147:80:59:1796:2502 . . . . . . . . . . . . . . . . . . . . . 0/1:-57.9454,0,-146.795:120:79:39:1183:2402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186444600 . C T 3668.72 . AB=0.459662;ABP=10.5432;AC=1;AF=0.5;AN=2;AO=245;CIGAR=1X;DP=533;DPB=533;DPRA=0;EPP=26.0634;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=34.4327;MQMR=36.906;NS=1;NUMALT=1;ODDS=844.754;PAIRED=0.934694;PAIREDR=0.93985;PAO=0;PQA=0;PQR=0;PRO=0;QA=6722;QR=7787;RO=266;RPL=143;RPP=17.9093;RPPR=11.3697;RPR=102;RUN=1;SAF=154;SAP=38.1882;SAR=91;SF=0;SRF=164;SRP=34.3905;SRR=102;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001114107:exon3:c.G246A:p.R82R,PDLIM3:NM_001257962:exon3:c.G246A:p.R82R,PDLIM3:NM_014476:exon3:c.G246A:p.R82R;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs200354645;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=9.482e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=369104;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=0.989;CADD_phred=10.60;DANN_score=0.990;fathmm-MKL_coding_score=0.900;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.653;integrated_confidence_value=0;GERP++_RS=3.5;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.007;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.797;SiPhy_29way_logOdds=9.801;GDI_full_10282015=.;dpsi_max_tissue=-0.0449;dpsi_zscore=-0.242;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=9.685e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-381.737,0,-479.924:533:266:245:6722:7787 . . . . . . . . . . . . . . . . . . . . . chr4 186446224 . C T 7983.01 . AB=0.48954;ABP=3.91887;AC=4;AF=0.5;AN=8;AO=468;CIGAR=1X;DP=3586;DPB=956;DPRA=0;EPP=23.2217;EPPR=44.1844;GTI=0;LEN=1;MEANALT=3;MQM=38.297;MQMR=39.1524;NS=1;NUMALT=1;ODDS=1870.06;PAIRED=0.938034;PAIREDR=0.935622;PAO=0;PQA=0;PQR=0;PRO=0;QA=13196;QR=14857;RO=466;RPL=270;RPP=27.0635;RPPR=40.7548;RPR=198;RUN=1;SAF=213;SAP=11.1951;SAR=255;SF=0,1;SRF=226;SRP=3.92362;SRR=240;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001114107:exon2:c.G195A:p.A65A,PDLIM3:NM_001257962:exon2:c.G195A:p.A65A,PDLIM3:NM_014476:exon2:c.G195A:p.A65A;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000399361;avsnp147=rs148570356;Kaviar_AF=0.000718;Kaviar_AC=111;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=9.61e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0;ExAC_SAS=0.0016;CLNALLELEID=229168;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0701;dpsi_zscore=-0.348;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0072;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-825.29,0,-972.59:956:466:468:13196:14857 . . . . . . . 0/1:-863.884,0,-771.53:832:374:434:13141:11988 0/1:-543.866,0,-892.529:771:427:324:9190:13107 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1146.74,0,-980.024:1027:462:542:16736:14844:462,542 . . . . . chr4 186446257 . G A 7816.42 . AB=0.481941;ABP=5.51999;AC=1;AF=0.5;AN=2;AO=427;CIGAR=1X;DP=886;DPB=886;DPRA=0;EPP=63.4301;EPPR=40.4539;GTI=0;LEN=1;MEANALT=3;MQM=39.2834;MQMR=39.9618;NS=1;NUMALT=1;ODDS=1799.8;PAIRED=0.936768;PAIREDR=0.97136;PAO=0;PQA=0;PQR=0;PRO=0;QA=12406;QR=13381;RO=419;RPL=171;RPP=39.7524;RPPR=12.5928;RPR=256;RUN=1;SAF=211;SAP=3.13744;SAR=216;SF=0;SRF=216;SRP=3.88614;SRR=203;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001114107:exon2:c.C162T:p.G54G,PDLIM3:NM_001257962:exon2:c.C162T:p.G54G,PDLIM3:NM_014476:exon2:c.C162T:p.G54G;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0081;esp6500siv2_ea=0.0099;esp6500siv2_all=0.0081;esp6500siv2_ea=0.0099;1000g2015aug_all=0.00259585;avsnp147=rs112661328;Kaviar_AF=0.0078201;Kaviar_AC=1209;Kaviar_AN=154602;ExAC_ALL=0.0078;ExAC_AFR=0.0024;ExAC_AMR=0.0037;ExAC_EAS=0.0001;ExAC_FIN=0.0165;ExAC_NFE=0.0107;ExAC_OTH=0.0033;ExAC_SAS=0.0032;CLNALLELEID=142371;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1200;dpsi_zscore=-0.506;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0080;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0049;gnomAD_exome_ASJ=0.0078;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0154;gnomAD_exome_NFE=0.0109;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0076;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0120;gnomAD_genome_NFE=0.0099;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-799.258,0,-892.041:886:419:427:12406:13381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr4 186456614 . TCTA TCTG,GCTA 2812.12 . AB=0;ABP=0;AC=22,0;AF=0;AN=30;AO=10;CIGAR=1X;DP=2257;DPB=175;DPRA=0;EPP=3.87889;EPPR=17.342;GTI=0;LEN=1;MEANALT=1;MQM=41.4;MQMR=40.1152;NS=1;NUMALT=1;ODDS=162.565;PAIRED=0.9;PAIREDR=0.933333;PAO=0;PQA=0;PQR=0;PRO=0;QA=261;QR=4543;RO=165;RPL=7;RPP=6.48466;RPPR=177.057;RPR=3;RUN=1;SAF=3;SAP=6.48466;SAR=7;SF=1;SRF=43;SRP=85.1446;SRR=122;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5\x3bUTR5\x3bUTR5;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_001114107:c.-29delT,NM_014476:c.-29delT,NM_001257963:c.-29delT,NM_001257962:c.-29delT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_001114107:c.-26A>C,NM_014476:c.-26A>C,NM_001257963:c.-26A>C,NM_001257962:c.-26A>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-366.822:175:165:.,10:.,261:4543:165,10 1/1:-471.78,-53.2823,0,.,.,.:194:0:177,.:5579,.:0:0,177 1/1:-126.709,-14.7505,0,.,.,.:57:0:49,.:1486,.:0:0,49 1/1:-304.973,-32.2102,0,.,.,.:121:0:107,.:3570,.:0:0,107 1/1:-357.615,-39.736,0,.,.,.:152:0:132,.:4224,.:0:0,132 . . 0/0:.,.,.,.,.,-287.567:146:136:.,10:.,258:3629:136,10 . 1/1:-315.38,-35.2205,0,.,.,.:133:0:117,.:3605,.:0:0,117 . 1/1:-369.161,-37.4808,0,.,.,.:156:1:134,.:4318,.:36:1,134 0/0:.,.,.,.,.,-284.832:134:127:.,7:.,201:3519:127,7 1/1:-431.176,-46.9607,0,.,.,.:177:0:156,.:5099,.:0:0,156 1/1:-372.195,-37.072,0,.,.,.:158:2:134,.:4345,.:50:2,134 1/1:-398.185,-44.8535,0,.,.,.:172:0:149,.:4771,.:0:0,149 1/1:-353.876,-39.1339,0,.,.,.:153:0:130,.:4210,.:0:0,130 1/1:-400.522,-43.9504,0,.,.,.:165:0:146,.:4752,.:0:0,146 0/0:.,.,.,.,.,-345.846:164:154:.,10:.,221:4243:154,10 chr4 186456615 . CTA CTG 3895.55 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=167;CIGAR=2M1X;DP=318;DPB=173.333;DPRA=0;EPP=15.506;EPPR=0;GTI=0;LEN=1;MEANALT=5;MQM=40.3413;MQMR=0;NS=1;NUMALT=1;ODDS=240.275;PAIRED=0.934132;PAIREDR=0;PAO=1.5;PQA=39;PQR=39;PRO=1.5;QA=5374;QR=0;RO=0;RPL=138;RPP=157.497;RPPR=0;RPR=29;RUN=1;SAF=41;SAP=96.9557;SAR=126;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5\x3bUTR5\x3bUTR5;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_001114107:c.-29delT,NM_014476:c.-29delT,NM_001257963:c.-29delT,NM_001257962:c.-29delT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-464.896,-52.0782,0:172:0:167:5374:0:0,167 . . . . . . 1/1:-375.29,-42.1442,0:146:0:140:4453:0:0,140 . . . . . . . . . . . chr4 186456616 . TA TG 3814.55 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=151;CIGAR=1M1X;DP=160;DPB=160;DPRA=0;EPP=20.6265;EPPR=5.18177;GTI=0;LEN=1;MEANALT=6;MQM=39.2781;MQMR=23;NS=1;NUMALT=1;ODDS=208.042;PAIRED=0.927152;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4864;QR=25;RO=1;RPL=126;RPP=149.707;RPPR=5.18177;RPR=25;RUN=1;SAF=35;SAP=97.3615;SAR=116;SF=1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5\x3bUTR5\x3bUTR5;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_001114107:c.-29delT,NM_014476:c.-29delT,NM_001257963:c.-29delT,NM_001257962:c.-29delT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-411.656,-43.8736,0:160:1:151:4864:25:1,151 chr4 186456617 . A G 2785.51 . AB=0;ABP=0;AC=202;AF=1;AN=202;AO=162;CIGAR=1X;DP=15463;DPB=166;DPRA=0;EPP=24.4569;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=28.3827;MQMR=23;NS=1;NUMALT=1;ODDS=223.149;PAIRED=0.802469;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4681;QR=14;RO=1;RPL=140;RPP=189.65;RPPR=5.18177;RPR=22;RUN=1;SAF=47;SAP=64.9911;SAR=115;SF=0,1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_001114107:c.-29T>C,NM_014476:c.-29T>C,NM_001257963:c.-29T>C,NM_001257962:c.-29T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.9493;esp6500siv2_ea=0.9993;esp6500siv2_all=0.9493;esp6500siv2_ea=0.9993;1000g2015aug_all=0.948283;avsnp147=rs4862545;Kaviar_AF=0.0052781;Kaviar_AC=816;Kaviar_AN=154602;ExAC_ALL=0.9857;ExAC_AFR=0.8357;ExAC_AMR=0.9930;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9971;ExAC_SAS=0.9997;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9909;gnomAD_exome_AFR=0.8241;gnomAD_exome_AMR=0.9930;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9996;gnomAD_exome_OTH=0.9949;gnomAD_exome_SAS=0.9997;gnomAD_genome_ALL=0.9529;gnomAD_genome_AFR=0.8351;gnomAD_genome_AMR=0.9892;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.9994;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9918;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-312.09,-47.8526,0:166:1:162:4681:14 1/1:-255.507,-41.1995,0:144:1:138:3784:14 1/1:-308.568,-49.3689,0:168:0:164:4560:0 1/1:-115.978,-19.567,0:67:0:65:1876:0 1/1:-279.376,-45.4555,0:153:0:151:4096:0 1/1:-455.58,-70.8977,0:242:2:238:6602:50 1/1:-256.737,-39.1339,0:132:0:130:3697:0 1/1:-371.592,-58.0988,0:196:0:193:5402:0 1/1:-265.931,-41.8432,0:141:0:139:3929:0 1/1:-321.074,-50.8741,0:173:0:169:4814:0 1/1:-224.396,-38.8329,0:133:0:129:3542:0 1/1:-287.693,-43.3483,0:145:0:144:4149:0 1/1:-288.79,-42.7463,0:144:0:142:4126:0 1/1:-287.786,-45.7389,0:159:1:155:4276:14 1/1:-247.563,-34.3174,0:115:0:114:3582:0 1/1:-402.565,-61.1091,0:206:0:203:5905:0 1/1:-302.87,-47.4164,0:162:1:161:4573:14 1/1:-769.446,-117.44,0:400:2:393:10899:28 1/1:-279.422,-42.4022,0:144:1:142:4191:14 1/1:-249.438,-39.922,0:140:1:134:3731:27 1/1:-224.756,-34.0164,0:115:0:113:3066:0 1/1:-257.101,-38.7361,0:135:2:131:3798:28 1/1:-197.369,-30.404,0:104:0:101:2899:0 1/1:-430.659,-68.9359,0:232:0:229:6402:0 1/1:-288.091,-44.5524,0:152:0:148:4354:0 1/1:-284.829,-47.5627,0:160:0:158:4148:0 1/1:-327.476,-54.1854,0:183:0:180:4842:0 1/1:-233.977,-37.6288,0:127:0:125:3506:0 1/1:-281.374,-41.8432,0:143:0:139:3956:0 1/1:-295.876,-46.9607,0:157:0:156:4200:0 1/1:-219.778,-30.103,0:100:0:100:3038:0 1/1:-353.385,-57.7978,0:193:0:192:5204:0 1/1:-362.055,-60.1861,0:207:1:203:5632:14 1/1:-184.241,-25.8886,0:86:0:86:2627:0 1/1:-374.228,-55.0279,0:193:1:186:5302:14 1/1:-342.246,-57.1957,0:197:0:190:5387:0 1/1:-213.924,-28.5129,0:107:2:104:3102:46 1/1:-324.01,-45.3601,0:158:1:152:4511:21 1/1:-318.653,-50.5622,0:171:1:169:4426:14 1/1:-162.354,-25.2865,0:84:0:84:2437:0 1/1:-381.274,-62.2996,0:218:1:210:5580:14 1/1:-249.507,-41.8432,0:142:0:139:3838:0 1/1:-261.969,-39.9425,0:137:1:134:4033:27 1/1:-265.663,-40.9401,0:139:0:136:3904:0 1/1:-381.933,-61.9991,0:220:1:209:5638:14 1/1:-253.355,-37.9298,0:127:0:126:3835:0 1/1:-266.876,-38.2308,0:132:0:127:3579:0 1/1:-175.27,-22.4376,0:85:2:81:2366:28 1/1:-232.489,-37.6769,0:127:2:125:3775:50 1/1:-357.938,-52.0782,0:174:0:173:4905:0 1/1:-334.931,-53.8844,0:181:0:179:4908:0 1/1:-296.858,-45.4555,0:157:0:151:4362:0 1/1:-416.458,-63.8908,0:215:1:212:5891:14 1/1:-379.754,-59.0019,0:200:0:196:5318:0 1/1:-236.658,-39.1339,0:131:0:130:3563:0 1/1:-240.301,-36.4246,0:121:0:121:3418:0 1/1:-271.887,-44.5524,0:149:0:148:3992:0 1/1:-192.295,-31.3071,0:107:0:104:2772:0 1/1:-134.155,-20.47,0:68:0:68:1965:0 1/1:-247.646,-38.5318,0:131:0:128:3500:0 1/1:-207.522,-31.9092,0:112:0:106:3023:0 1/1:-375.944,-58.3998,0:195:0:194:5436:0 1/1:-247.909,-37.9298,0:127:0:126:3584:0 1/1:-200.124,-33.1133,0:111:0:110:3096:0 1/1:-360.534,-56.3752,0:190:1:187:5252:14 1/1:-271.404,-41.8432,0:141:0:139:4093:0 1/1:-189.079,-30.103,0:101:0:100:2756:0 1/1:-279.618,-42.7463,0:144:0:142:4136:0 1/1:-159.769,-27.0927,0:92:0:90:2578:0 1/1:-255.941,-40.338,0:137:0:134:3718:0 1/1:-266.898,-43.6494,0:146:0:145:4219:0 1/1:-445.57,-69.218,0:239:1:233:6411:14 1/1:-383.978,-59.5837,0:202:1:199:5474:14 1/1:-160.712,-27.9958,0:99:0:93:2585:0 1/1:-320.578,-46.9607,0:156:0:156:4549:0 1/1:-351.012,-60.206,0:202:0:200:5448:0 1/1:-241.521,-37.5165,0:134:1:126:3589:36 1/1:-339.116,-57.7978,0:192:0:192:5359:0 1/1:-212.609,-33.1133,0:113:0:110:3120:0 1/1:-198.339,-29.1999,0:100:0:97:2843:0 1/1:-290.661,-45.7204,0:158:1:153:4099:14 1/1:-337.733,-55.9916,0:192:0:186:5104:0 1/1:-375.393,-55.9916,0:186:0:186:5349:0 1/1:-325.607,-50.7533,0:172:1:170:4790:32 1/1:-258.338,-40.037,0:133:0:133:3856:0 1/1:-298.731,-43.9504,0:147:0:146:4124:0 1/1:-195.741,-33.1133,0:111:0:110:3045:0 1/1:-213.568,-37.6288,0:127:0:125:3240:0 1/1:-168.355,-23.7814,0:80:0:79:2274:0 1/1:-293.944,-46.6597,0:158:0:155:4474:0 1/1:-409.253,-63.8184,0:215:0:212:5922:0 1/1:-259.053,-37.6288,0:127:0:125:3548:0 1/1:-492.844,-78.2036,0:267:2:261:7406:59 1/1:-254.202,-41.5421,0:139:0:138:3865:0 1/1:-325.157,-51.131,0:176:1:171:4964:14 . 1/1:-398.946,-39.9419,0:146:2:144:4748:50:2,144 . . . . . 1/1:-362.961,-43.0473,0:145:0:143:4339:0:0,143 1/1:-399.248,-42.8525,0:147:1:146:4716:14:1,146 . 1/1:-410.223,-47.5627,0:158:0:158:4971:0:0,158 . 1/1:-325.301,-34.7732,0:120:1:119:3827:14:1,119 . 1/1:-354.813,-38.8329,0:131:0:129:4185:0:0,129 . . . . . . chr5 218441 . T G 22.50 . AB=0.8;ABP=6.91895;AC=1;AF=0.5;AN=2;AO=4;CIGAR=1X;DP=5;DPB=5;DPRA=0;EPP=11.6962;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=23;MQMR=16;NS=1;NUMALT=1;ODDS=5.17593;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=56;QR=36;RO=1;RPL=2;RPP=3.0103;RPPR=5.18177;RPR=2;RUN=1;SAF=2;SAP=3.0103;SAR=2;SF=0;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=SDHA;GeneDetail.refGene=NM_004168:c.-30T>G,NM_001294332:c.-30T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-3.49148,0,-0.0906367:5:1:4:56:36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 218466 . CA CG 72.16 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=5;CIGAR=1M1X;DP=10;DPB=10;DPRA=0;EPP=3.44459;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=28.4;MQMR=13.5;NS=1;NUMALT=1;ODDS=8.50044;PAIRED=0.4;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=158;QR=48;RO=2;RPL=0;RPP=13.8677;RPPR=3.0103;RPR=5;RUN=1;SAF=3;SAP=3.44459;SAR=2;SF=0;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=SDHA;GeneDetail.refGene=NM_004168:c.-4del-,NM_001294332:c.-4del-;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-8.82442,0,-0.297419:10:2:5:158:48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 218487 . G A 61.89 . AB=0.7;ABP=6.48466;AC=1;AF=0.5;AN=2;AO=7;CIGAR=1X;DP=10;DPB=10;DPRA=0;EPP=3.32051;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=22.8571;MQMR=40;NS=1;NUMALT=1;ODDS=2.91925;PAIRED=0.714286;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=200;QR=72;RO=2;RPL=2;RPP=5.80219;RPPR=7.35324;RPR=5;RUN=1;SAF=3;SAP=3.32051;SAR=4;SF=0;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon1:c.G17A:p.G6D,SDHA:NM_004168:exon1:c.G17A:p.G6D;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=0.0054;esp6500siv2_ea=.;esp6500siv2_all=0.0054;esp6500siv2_ea=.;1000g2015aug_all=0.00399361;avsnp147=rs187964306;Kaviar_AF=0.0012548;Kaviar_AC=194;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0284;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0030;ExAC_SAS=0;CLNALLELEID=226821;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.323;SIFT_pred=T;Polyphen2_HDIV_score=0.037;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.243;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.26;FATHMM_pred=T;PROVEAN_score=0.14;PROVEAN_pred=N;VEST3_score=0.102;CADD_raw=-0.144;CADD_phred=1.423;DANN_score=0.745;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.061;MetaLR_pred=T;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=-1.91;phyloP7way_vertebrate=-0.645;phyloP20way_mammalian=-0.408;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=4.366;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0208;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.881e-05;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0053;gnomAD_genome_AFR=0.0187;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-9.96268,0,-3.69133:10:2:7:200:72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 218520 . C T 31.26 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=23;MQMR=0;NS=1;NUMALT=1;ODDS=7.19725;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=72;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon1:c.C50T:p.A17V,SDHA:NM_004168:exon1:c.C50T:p.A17V;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.054;SIFT_pred=T;Polyphen2_HDIV_score=0.251;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.169;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=0.08;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_pred=N;VEST3_score=0.223;CADD_raw=2.284;CADD_phred=18.06;DANN_score=0.893;fathmm-MKL_coding_score=0.325;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.814;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_pred=T;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=2.58;phyloP7way_vertebrate=0.853;phyloP20way_mammalian=0.706;phastCons7way_vertebrate=0.099;phastCons20way_mammalian=0.086;SiPhy_29way_logOdds=5.231;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.32984,-0.60206,0:2:0:2:72:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 218551 . A C 25.01 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=3;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=9.52472;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=23;MQMR=0;NS=1;NUMALT=1;ODDS=5.75494;PAIRED=0.666667;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=49;QR=0;RO=0;RPL=1;RPP=3.73412;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.73412;SAR=2;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 1/1:-4.25437,-0.90309,0:3:0:3:49:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 218576 . A G,C 25.32 . AB=0;ABP=0;AC=2,1;AF=1;AN=4;AO=3;CIGAR=1X;DP=17;DPB=6;DPRA=0;EPP=9.52472;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=23.3333;MQMR=6.5;NS=1;NUMALT=1;ODDS=6.87181;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=62;QR=28;RO=2;RPL=3;RPP=9.52472;RPPR=7.35324;RPR=0;RUN=1;SAF=3;SAP=9.52472;SAR=0;SF=0;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . 1/1:-3.88748,-0.476863,0,.,.,.:6:2:3,.:62,.:28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-2.82618,.,.,0,.,-0.643447:11:4:.,5:.,92:56 . . . . . . . . . . . . . . . . . . . . . . . chr5 218589 . A C 26.41 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=33;MQMR=0;NS=1;NUMALT=1;ODDS=6.07936;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=41;QR=0;RO=0;RPL=1;RPP=3.0103;RPPR=0;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 1/1:-3.84435,-0.60206,0:2:0:2:41:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 218598 . GT AT,AG 37.34 . AB=0;ABP=0;AC=29,2;AF=1;AN=46;AO=7;CIGAR=1X;DP=333;DPB=7;DPRA=0;EPP=10.7656;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=11;MQMR=0;NS=1;NUMALT=1;ODDS=6.86104;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=142;QR=0;RO=0;RPL=3;RPP=3.32051;RPPR=0;RPR=4;RUN=1;SAF=2;SAP=5.80219;SAR=5;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.329872;avsnp147=rs2303740;Kaviar_AF=0.403489;Kaviar_AC=10502;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3851;gnomAD_genome_AFR=0.1600;gnomAD_genome_AMR=0.3668;gnomAD_genome_ASJ=0.4040;gnomAD_genome_EAS=0.2847;gnomAD_genome_FIN=0.4885;gnomAD_genome_NFE=0.4979;gnomAD_genome_OTH=0.4722;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.95775\x3bName\x3dchr5:1594142;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 1/1:.,.,0,.,.,.:7:0:7,.:142,.:0 . . 2/2:-4.92862,.,.,-1.20412,.,0:11:0:.,4:.,56:0 . . . . . 0/1:.,.,-1.87144,.,.,.:20:9:10,.:204,.:254 . . 1/1:.,.,0,.,.,.:5:3:2,.:68,.:64 . . . . . . . . . . . 1/1:.,.,0,.,.,.:13:2:8,.:154,.:54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:.,.,0,.,.,.:2:0:2,.:68,.:0 . . . . . . . . . 1/1:.,.,0,.,.,.:3:0:2,.:50,.:0 . . . . . . . . . . . . 0/1:.,.,-8.82135,.,.,.:20:9:11,.:287,.:302:9,11 0/1:-8.90111,0,-1.72459,.,.,.:14:3:8,.:153,.:90:3,8 0/1:.,.,-7.70001,.,.,.:13:6:7,.:195,.:208:6,7 . 0/1:.,.,-12.305,.,.,.:15:8:6,.:159,.:244:8,6 0/1:.,.,-9.40755,.,.,.:22:8:14,.:409,.:240:8,14 0/1:.,.,-16.6018,.,.,.:15:8:6,.:143,.:280:8,6 0/1:.,.,-5.95334,.,.,.:21:5:16,.:396,.:163:5,16 1/1:.,.,0,.,.,.:12:0:10,.:308,.:0:0,10 0/1:.,.,-15.5198,.,.,.:18:10:8,.:266,.:325:10,8 . 0/1:-16.3912,0,-2.4819,.,.,.:18:3:11,.:252,.:82:3,11 0/1:.,.,-6.19756,.,.,.:21:5:14,.:342,.:180:5,14 0/1:.,.,-1.00731,.,.,.:16:3:13,.:381,.:86:3,13 1/1:-23.4415,-5.11751,0,.,.,.:19:0:15,.:308,.:0:0,15 0/1:.,.,-10.776,.,.,.:15:8:6,.:125,.:249:8,6 0/1:.,.,-13.9192,.,.,.:15:9:5,.:120,.:289:9,5 . 0/1:.,.,-15.8372,.,.,.:18:12:6,.:168,.:378:12,6 . chr5 223646 . A T 4000.15 . AB=0.498708;ABP=3.02713;AC=14;AF=0.5;AN=26;AO=579;CIGAR=1X;DP=13424;DPB=1161;DPRA=0;EPP=75.4715;EPPR=51.1357;GTI=0;LEN=1;MEANALT=3;MQM=15.266;MQMR=17.8975;NS=1;NUMALT=1;ODDS=850.023;PAIRED=0.97582;PAIREDR=0.966431;PAO=0;PQA=0;PQR=0;PRO=0;QA=16692;QR=17309;RO=566;RPL=217;RPP=81.8621;RPPR=44.5061;RPR=362;RUN=1;SAF=301;SAP=4.99425;SAR=278;SF=0,1;SRF=286;SRP=3.14841;SRR=280;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon2:c.A113T:p.D38V,SDHA:NM_004168:exon2:c.A113T:p.D38V;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0456;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0456;1000g2015aug_all=0.0185703;avsnp147=rs34635677;Kaviar_AF=0.0349931;Kaviar_AC=5410;Kaviar_AN=154602;ExAC_ALL=0.0353;ExAC_AFR=0.0062;ExAC_AMR=0.0115;ExAC_EAS=0;ExAC_FIN=0.0271;ExAC_NFE=0.0442;ExAC_OTH=0.0198;ExAC_SAS=0.0568;CLNALLELEID=226826;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.614;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=0.31;PROVEAN_pred=N;VEST3_score=0.361;CADD_raw=0.820;CADD_phred=9.589;DANN_score=0.864;fathmm-MKL_coding_score=0.598;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.079;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=1.56;phyloP7way_vertebrate=-0.330;phyloP20way_mammalian=0.233;phastCons7way_vertebrate=0.652;phastCons20way_mammalian=0.832;SiPhy_29way_logOdds=8.397;GDI_full_10282015=.;dpsi_max_tissue=-1.1343;dpsi_zscore=-1.547;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0353;gnomAD_exome_AFR=0.0064;gnomAD_exome_AMR=0.0132;gnomAD_exome_ASJ=0.0514;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0253;gnomAD_exome_NFE=0.0458;gnomAD_exome_OTH=0.0308;gnomAD_exome_SAS=0.0585;gnomAD_genome_ALL=0.0291;gnomAD_genome_AFR=0.0080;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0260;gnomAD_genome_NFE=0.0444;gnomAD_genome_OTH=0.0448;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-392.717,0,-501.522:1161:566:579:16692:17309 0/1:-278.185,0,-406.915:951:499:434:12964:15042 0/1:-275.819,0,-439.565:898:461:427:12180:14336 . . . . . . . . . . . . . . . . . . . . 1/1:-1237.57,-266.652,0:1040:28:985:28995:772 . . . . . . . 0/1:-456.105,0,-559.61:1248:595:631:18431:18854 . . . 0/1:-483.352,0,-627.227:1380:681:672:20219:21425 . . . . . . . . . . . . . . . . . . . . . 0/1:-197.192,0,-291.122:701:349:340:9756:10692 . 0/1:-278.777,0,-354.594:804:393:394:11633:12105 . . . . . . . . . . . . . . 0/1:-328.805,0,-459.498:1035:524:494:14395:16185 . . . . . . . . . . . . . . . . 0/1:-357.109,0,-462.972:935:454:466:14077:14148:454,466 . . . 0/1:-373.341,0,-624.637:1111:572:526:16150:18293:572,526 . . . 0/1:-363.905,0,-570.015:1051:526:506:15039:16575:526,506 . 0/1:-341.663,0,-648.909:1109:586:512:15453:18547:586,512 . . . . . chr5 224633 . A G 706.57 . AB=0.436219;ABP=34.0342;AC=18;AF=0.5;AN=34;AO=383;CIGAR=1X;DP=20030;DPB=878;DPRA=0;EPP=6.55383;EPPR=7.53695;GTI=0;LEN=1;MEANALT=3;MQM=8.95561;MQMR=14.6334;NS=1;NUMALT=1;ODDS=21.1939;PAIRED=0.963446;PAIREDR=0.960954;PAO=0;PQA=0;PQR=0;PRO=0;QA=10817;QR=13865;RO=461;RPL=284;RPP=197.054;RPPR=185.814;RPR=99;RUN=1;SAF=154;SAP=34.902;SAR=229;SF=0,1;SRF=197;SRP=24.1551;SRR=264;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon3:c.A309G:p.A103A,SDHA:NM_004168:exon3:c.A309G:p.A103A;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.2578;esp6500siv2_ea=0.1294;esp6500siv2_all=0.2578;esp6500siv2_ea=0.1294;1000g2015aug_all=0.240016;avsnp147=rs1139424;Kaviar_AF=0.149092;Kaviar_AC=23050;Kaviar_AN=154602;ExAC_ALL=0.1529;ExAC_AFR=0.5261;ExAC_AMR=0.1768;ExAC_EAS=0.0613;ExAC_FIN=0.0906;ExAC_NFE=0.1253;ExAC_OTH=0.1338;ExAC_SAS=0.0893;CLNALLELEID=135727;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0123;dpsi_zscore=0.084;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1486;gnomAD_exome_AFR=0.5390;gnomAD_exome_AMR=0.1839;gnomAD_exome_ASJ=0.1611;gnomAD_exome_EAS=0.0599;gnomAD_exome_FIN=0.0857;gnomAD_exome_NFE=0.1261;gnomAD_exome_OTH=0.1547;gnomAD_exome_SAS=0.0891;gnomAD_genome_ALL=0.2257;gnomAD_genome_AFR=0.5261;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.0501;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1134;gnomAD_genome_OTH=0.1327;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-42.2384,0,-317.411:878:461:383:10817:13865 . . . . . . . . . . 0/1:-127.348,0,-993.8:2386:1297:979:27863:39157 . . . . . . . . . . . 0/1:-58.8896,0,-298.902:821:422:366:10694:12760 . . . 0/1:-61.3126,0,-518.226:1329:705:564:16590:21535 . . . . . . . . . . . . . . . . . . 0/1:-126.865,0,-454.303:1241:599:578:16766:17973 . . . . . . 0/1:-125.348,0,-469.734:1402:698:637:18370:20603 . . . 1/1:-384.486,-157.612,0:619:36:564:16169:1188 . . . . . . . . . . . 0/1:-65.6927,0,-482.292:1375:712:612:17654:20830 . . . 0/1:-75.8563,0,-247.628:712:349:339:10015:10440 0/1:-58.3911,0,-382.621:1093:566:476:13870:16423 . . . . . . . . . . . . 0/1:-89.3908,0,-452.303:1304:669:587:16651:19720 . . . . . 0/1:-90.4391,0,-500.421:958:522:426:13250:16403:522,426 0/1:-118.676,0,-651.276:1121:610:494:15391:19466:610,494 . . . . 0/1:-121.143,0,-727.596:1249:691:541:16732:22035:691,541 . . . . . . . 0/1:-141.734,0,-621.424:1151:606:522:16214:19569:606,522 0/1:-103.166,0,-576.839:1021:564:446:13938:17912:564,446 0/1:-121.428,0,-801.105:1370:766:585:18068:23904:766,585 chr5 224640 . A G 2116.25 . AB=0.502836;ABP=3.08419;AC=1;AF=0.5;AN=2;AO=532;CIGAR=1X;DP=1058;DPB=1058;DPRA=0;EPP=37.5579;EPPR=27.9952;GTI=0;LEN=1;MEANALT=3;MQM=12.2744;MQMR=8.23108;NS=1;NUMALT=1;ODDS=37.6766;PAIRED=0.960526;PAIREDR=0.966135;PAO=0;PQA=0;PQR=0;PRO=0;QA=15875;QR=15402;RO=502;RPL=379;RPP=211.488;RPPR=146.293;RPR=153;RUN=1;SAF=181;SAP=120.972;SAR=351;SF=0;SRF=175;SRP=102.95;SRR=327;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747036101;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.249e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0335;dpsi_zscore=-1.489;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.067e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.983e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-256.733,0,-51.767:1058:502:532:15875:15402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 225697 . G C 2664.22 . AB=0.475432;ABP=6.95817;AC=3;AF=0.5;AN=6;AO=358;CIGAR=1X;DP=1831;DPB=753;DPRA=0;EPP=7.11062;EPPR=5.05704;GTI=0;LEN=1;MEANALT=3;MQM=21.8687;MQMR=18.8851;NS=1;NUMALT=1;ODDS=720.315;PAIRED=0.977654;PAIREDR=0.979112;PAO=0;PQA=0;PQR=0;PRO=0;QA=9474;QR=10865;RO=383;RPL=171;RPP=4.56308;RPPR=8.45882;RPR=187;RUN=1;SAF=175;SAP=3.3985;SAR=183;SF=0;SRF=183;SRP=4.64883;SRR=200;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0065;1000g2015aug_all=0.00359425;avsnp147=rs193283468;Kaviar_AF=0.0062806;Kaviar_AC=971;Kaviar_AN=154602;ExAC_ALL=0.0068;ExAC_AFR=0.0009;ExAC_AMR=0.0018;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0063;ExAC_OTH=0.0034;ExAC_SAS=0.0210;CLNALLELEID=251938;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7830;dpsi_zscore=-1.331;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0069;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0246;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0058;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0215;gnomAD_genome_ALL=0.0042;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-321.274,0,-335.428:753:383:358:9474:10865 . . . . . . . . . . . 0/1:-347.042,0,-362.667:775:372:385:9910:10508 . . . . . . . . . . . . . . . . . . . . . 0/1:-158.07,0,-115.704:303:124:167:4175:3633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 226160 . A C 1991.79 . AB=0.429932;ABP=34.3534;AC=27;AF=0.5;AN=52;AO=316;CIGAR=1X;DP=19112;DPB=735;DPRA=0;EPP=34.7853;EPPR=17.2619;GTI=0;LEN=1;MEANALT=3;MQM=14.9367;MQMR=16.9636;NS=1;NUMALT=1;ODDS=334.412;PAIRED=0.958861;PAIREDR=0.956311;PAO=0;PQA=0;PQR=0;PRO=0;QA=9083;QR=12061;RO=412;RPL=219;RPP=105.289;RPPR=45.7019;RPR=97;RUN=1;SAF=103;SAP=86.1585;SAR=213;SF=0,1;SRF=159;SRP=49.581;SRR=253;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon4:c.A475C:p.R159R,SDHA:NM_004168:exon5:c.A619C:p.R207R;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.2710;esp6500siv2_ea=0.1359;esp6500siv2_all=0.2710;esp6500siv2_ea=0.1359;1000g2015aug_all=0.247404;avsnp147=rs6555055;Kaviar_AF=0.154228;Kaviar_AC=23844;Kaviar_AN=154602;ExAC_ALL=0.1568;ExAC_AFR=0.5378;ExAC_AMR=0.1861;ExAC_EAS=0.0622;ExAC_FIN=0.0917;ExAC_NFE=0.1279;ExAC_OTH=0.1347;ExAC_SAS=0.0902;CLNALLELEID=135728;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3709;dpsi_zscore=0.986;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1513;gnomAD_exome_AFR=0.5470;gnomAD_exome_AMR=0.1887;gnomAD_exome_ASJ=0.1646;gnomAD_exome_EAS=0.0601;gnomAD_exome_FIN=0.0861;gnomAD_exome_NFE=0.1282;gnomAD_exome_OTH=0.1569;gnomAD_exome_SAS=0.0902;gnomAD_genome_ALL=0.2255;gnomAD_genome_AFR=0.5258;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.05;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1135;gnomAD_genome_OTH=0.1327;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-177.68,0,-359.783:735:412:316:9083:12061 . 0/1:-219.262,0,-293.284:690:341:344:10085:9782 . . . . . 0/1:-266.159,0,-319.488:730:354:364:10818:10551 . . . . 0/1:-437.145,0,-834.505:1634:873:739:21622:26063 . . . 0/1:-238.176,0,-523.846:873:480:385:11165:14457 0/1:-94.443,0,-204.227:374:204:166:4779:5912 . . . . . . 0/1:-193.135,0,-274.313:599:308:286:8452:9114 . . . 0/1:-224.449,0,-459.572:946:510:431:12307:15130 . . . . . . . . . . . . . . . . . . 0/1:-258.962,0,-436.691:868:442:409:12095:13192 . . . . 0/1:-126.851,0,-148.135:446:206:231:6688:5888 . 0/1:-248.831,0,-346.432:802:395:398:11860:11532 . . . 1/1:-440.352,-109.369,0:411:13:394:11364:332 . 0/1:-284.135,0,-351.147:881:419:453:13177:12365 . . . . 0/1:-233.483,0,-393.227:789:412:368:10773:11881 . . . . 0/1:-217.571,0,-437.951:938:500:428:12597:14573 . . 0/1:-132.336,0,-241.205:490:264:222:6607:7655 0/1:-57.0254,0,-274.147:435:271:158:4374:8176 0/1:-249.877,0,-315.656:768:376:383:11417:11165 . . . . . . . . . 0/1:-260.528,0,-514.442:973:529:436:12792:15658 . . 0/1:-333.384,0,-338.117:904:411:472:14042:12140 . . . . . 0/1:-198.05,0,-284.196:462:246:214:6946:7486:246,214 0/1:-227.647,0,-468.711:678:370:303:9198:11334:370,303 . . . . 0/1:-232.479,0,-523.344:736:427:303:9250:12952:427,303 . . . . . . . 0/1:-241.634,0,-400.596:605:319:284:8946:9749:319,284 0/1:-186.242,0,-461.734:586:348:235:7422:10939:348,235 0/1:-254.729,0,-515.241:759:428:329:10302:13108:428,329 chr5 228278 . CTTTTTTTTTC CTTTTTTTTC 2109.07 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=643;CIGAR=1M1D9M;DP=803;DPB=748.273;DPRA=0;EPP=128.804;EPPR=4.1599;GTI=0;LEN=1;MEANALT=63;MQM=7.38258;MQMR=14.1176;NS=1;NUMALT=1;ODDS=485.632;PAIRED=0.984448;PAIREDR=1;PAO=10.5;PQA=235.5;PQR=235.5;PRO=10.5;QA=4701;QR=522;RO=17;RPL=167;RPP=325.459;RPPR=9.26925;RPR=476;RUN=1;SAF=310;SAP=4.79678;SAR=333;SF=0;SRF=8;SRP=3.13803;SRR=9;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.2552;esp6500siv2_ea=0.1308;esp6500siv2_all=0.2552;esp6500siv2_ea=0.1308;1000g2015aug_all=0.234625;avsnp147=rs3835068;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;ExAC_ALL=0.1514;ExAC_AFR=0.5075;ExAC_AMR=0.1828;ExAC_EAS=0.0614;ExAC_FIN=0.0917;ExAC_NFE=0.1271;ExAC_OTH=0.1378;ExAC_SAS=0.0899;CLNALLELEID=251939;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1433;gnomAD_exome_AFR=0.5153;gnomAD_exome_AMR=0.1777;gnomAD_exome_ASJ=0.1491;gnomAD_exome_EAS=0.0585;gnomAD_exome_FIN=0.0870;gnomAD_exome_NFE=0.1225;gnomAD_exome_OTH=0.1515;gnomAD_exome_SAS=0.0868;gnomAD_genome_ALL=0.2247;gnomAD_genome_AFR=0.5226;gnomAD_genome_AMR=0.1899;gnomAD_genome_ASJ=0.1565;gnomAD_genome_EAS=0.0491;gnomAD_genome_FIN=0.0826;gnomAD_genome_NFE=0.1127;gnomAD_genome_OTH=0.1307;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-259.022,-190.19,0:803:17:643:4701:522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 228362 . T C 810.19 . AB=0.541012;ABP=19.753;AC=27;AF=0.5;AN=52;AO=620;CIGAR=1X;DP=28248;DPB=1146;DPRA=0;EPP=104.229;EPPR=142.948;GTI=0;LEN=1;MEANALT=3;MQM=9.72903;MQMR=16.0739;NS=1;NUMALT=1;ODDS=279.11;PAIRED=0.977419;PAIREDR=0.984436;PAO=0;PQA=0;PQR=0;PRO=0;QA=19355;QR=16592;RO=514;RPL=475;RPP=384.419;RPPR=409;RPR=145;RUN=1;SAF=232;SAP=88.2441;SAR=388;SF=0,1;SRF=174;SRP=119.425;SRR=340;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon5:c.T540C:p.N180N,SDHA:NM_004168:exon6:c.T684C:p.N228N;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.2716;esp6500siv2_ea=0.1360;esp6500siv2_all=0.2716;esp6500siv2_ea=0.1360;1000g2015aug_all=0.247404;avsnp147=rs2115272;Kaviar_AF=0.152249;Kaviar_AC=23538;Kaviar_AN=154602;ExAC_ALL=0.1565;ExAC_AFR=0.5364;ExAC_AMR=0.1861;ExAC_EAS=0.0626;ExAC_FIN=0.0915;ExAC_NFE=0.1275;ExAC_OTH=0.1355;ExAC_SAS=0.0901;CLNALLELEID=135729;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0234;dpsi_zscore=0.158;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1513;gnomAD_exome_AFR=0.5466;gnomAD_exome_AMR=0.1888;gnomAD_exome_ASJ=0.1646;gnomAD_exome_EAS=0.0603;gnomAD_exome_FIN=0.0863;gnomAD_exome_NFE=0.1282;gnomAD_exome_OTH=0.1566;gnomAD_exome_SAS=0.0902;gnomAD_genome_ALL=0.2259;gnomAD_genome_AFR=0.5255;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.05;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1140;gnomAD_genome_OTH=0.1319;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-190.426,0,-372.213:1146:514:620:19355:16592 . 0/1:-122.116,0,-365.158:887:421:459:14731:13492 . . . . . 0/1:-79.8949,0,-382.76:919:471:438:13971:15325 . . . . 0/1:-259.783,0,-965.304:2313:1146:1146:36430:37583 . . . 0/1:-111.094,0,-582.184:1200:632:551:17507:20628 0/1:-63.3319,0,-204.524:616:291:317:9869:9478 . . . . . . 0/1:-126.499,0,-335.313:820:395:418:13061:13006 . . . 0/1:-110.511,0,-574.366:1266:678:569:17705:21636 . . . . . . . . . . . . . . . . . . 0/1:-135.187,0,-492.758:1261:598:647:20032:19629 . . . . 0/1:-74.0486,0,-262.544:612:310:296:9051:10032 . 0/1:-150.655,0,-465.061:1182:574:595:18935:18596 . . . 1/1:-576.176,-216.895,0:775:10:753:23094:326 . 0/1:-151.531,0,-500.531:1197:592:592:18948:19153 . . . . 0/1:-106.092,0,-514.234:1123:579:534:16695:18948 . . . . 0/1:-139.162,0,-619.41:1375:717:640:20086:23147 . . 0/1:-81.2129,0,-317.833:709:367:335:10731:11979 0/1:-64.6065,0,-260.715:560:296:259:8200:9407 0/1:-109.997,0,-441.378:1062:526:522:16780:17128 . . . . . . . . . 0/1:-103.314,0,-713.408:1446:764:667:20856:25132 . . 0/1:-179.427,0,-455.28:1237:564:662:21023:18425 . . . . . 0/1:-152.662,0,-395.593:836:403:428:13781:13071:403,428 0/1:-186.233,0,-559.553:1157:559:587:18764:17732:559,587 . . . . 0/1:-131.36,0,-657.881:1183:611:559:18043:19631:611,559 . . . . . . . 0/1:-152.752,0,-581.642:1005:521:473:15136:16946:521,473 0/1:-148.906,0,-579.347:1098:553:531:16951:18025:553,531 0/1:-206.107,0,-532.012:1263:562:683:21634:18392:562,683 chr5 230980 . A G 14693.93 . AB=0;ABP=0;AC=193;AF=1;AN=224;AO=998;CIGAR=1X;DP=152192;DPB=1032;DPRA=0;EPP=23.9069;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=17.983;MQMR=15.1111;NS=1;NUMALT=1;ODDS=1330.82;PAIRED=0.942886;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=27283;QR=218;RO=9;RPL=367;RPP=154.657;RPPR=5.18177;RPR=631;RUN=1;SAF=647;SAP=193.647;SAR=351;SF=0,1;SRF=6;SRP=5.18177;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.9126;esp6500siv2_ea=0.8817;esp6500siv2_all=0.9126;esp6500siv2_ea=0.8817;1000g2015aug_all=0.858427;avsnp147=rs2288461;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.8810;ExAC_AFR=0.9736;ExAC_AMR=0.8950;ExAC_EAS=0.6643;ExAC_FIN=0.9190;ExAC_NFE=0.8837;ExAC_OTH=0.8700;ExAC_SAS=0.9008;CLNALLELEID=251940;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8030;dpsi_zscore=-1.346;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8779;gnomAD_exome_AFR=0.9739;gnomAD_exome_AMR=0.8930;gnomAD_exome_ASJ=0.8099;gnomAD_exome_EAS=0.6603;gnomAD_exome_FIN=0.9230;gnomAD_exome_NFE=0.8844;gnomAD_exome_OTH=0.8697;gnomAD_exome_SAS=0.9026;gnomAD_genome_ALL=0.9009;gnomAD_genome_AFR=0.9713;gnomAD_genome_AMR=0.8923;gnomAD_genome_ASJ=0.7848;gnomAD_genome_EAS=0.6590;gnomAD_genome_FIN=0.9201;gnomAD_genome_NFE=0.8853;gnomAD_genome_OTH=0.8867;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1357.32,-292.625,0:1032:9:998:27283:218 1/1:-1889.46,-412.808,0:1425:3:1386:38114:86 1/1:-1732.04,-353.646,0:1238:6:1202:33096:150 0/1:-324.169,0,-605.768:870:448:402:11010:13456 1/1:-1611.91,-370.95,0:1280:3:1237:33120:42 0/1:-885.324,0,-1117.25:1914:890:955:26617:26506 1/1:-1298.05,-289.719,0:985:1:965:26263:14 1/1:-2019.36,-420.651,0:1456:6:1417:38088:119 1/1:-1787,-365.123,0:1308:12:1255:34455:250 1/1:-1769.88,-389.559,0:1365:8:1327:36654:217 1/1:-1500.09,-336.235,0:1161:4:1134:30114:103 1/1:-1614.39,-343.41,0:1186:4:1150:32427:87 1/1:-1504.44,-320.799,0:1163:14:1123:31017:385 1/1:-1334.31,-281.393,0:1017:10:975:26112:224 1/1:-1436.64,-303.18,0:1071:11:1033:28209:243 0/1:-763.207,0,-1318.34:2083:1033:972:26721:30490 1/1:-1086.26,-249.214,0:881:6:856:23084:142 1/1:-3722.38,-796.149,0:2790:17:2716:75001:434 1/1:-1794.86,-376.495,0:1306:6:1266:35243:91 0/1:-285.566,0,-661.745:970:505:424:11570:15489 0/1:-316.538,0,-754.014:1084:584:457:12401:17134 1/1:-1860.87,-413.011,0:1424:4:1396:38488:120 1/1:-835.306,-190.979,0:666:4:650:17866:91 1/1:-2312.61,-488.015,0:1690:11:1645:44893:218 1/1:-2271.89,-466.192,0:1595:3:1558:41917:82 0/1:-336.463,0,-625.846:1041:526:477:13103:15516 0/1:-543.835,0,-893.723:1495:724:722:19808:21370 1/1:-1718.68,-365.524,0:1252:4:1222:33106:78 0/1:-365.167,0,-698.458:1141:563:534:14664:16239 1/1:-1366.39,-295.194,0:1024:2:997:27768:63 0/1:-411.136,0,-572.727:1026:497:498:13936:14777 1/1:-1928.83,-396.041,0:1388:9:1350:37949:230 1/1:-1956.95,-424.968,0:1465:4:1423:38739:96 1/1:-1902.72,-418.678,0:1542:17:1484:39759:480 1/1:-1794.52,-359.433,0:1284:12:1237:33988:320 0/1:-730.864,0,-1104.14:1777:866:836:23108:25995 1/1:-2783.38,-572.686,0:1994:9:1939:52852:192 . 1/1:-1689.37,-365.933,0:1310:12:1255:33316:269 0/1:-342.155,0,-744.029:1076:579:463:12953:17066 1/1:-2071.76,-428.062,0:1498:8:1462:40543:203 0/1:-541.77,0,-862.225:1452:707:698:18989:20431 1/1:-1896.72,-405.054,0:1392:4:1360:37551:74 1/1:-1584.53,-331.209,0:1174:6:1137:31200:164 1/1:-2040.39,-423.108,0:1461:7:1425:39522:180 0/1:-431.414,0,-970.478:1417:758:612:16760:22041 0/1:-555.35,0,-930.244:1499:728:714:19200:21536 1/1:-1103.24,-228.566,0:808:6:784:21462:119 1/1:-1317.26,-278.971,0:949:2:929:25780:28 0/1:-760.966,0,-951.137:1663:754:847:23682:22533 1/1:-2060.58,-442.872,0:1519:3:1475:39889:67 1/1:-1447.16,-324.65,0:1129:4:1088:29081:118 1/1:-2148.93,-454.006,0:1550:4:1517:43157:96 0/1:-687.032,0,-1097.45:1872:909:882:23890:26193 1/1:-1192.64,-267.966,0:935:5:900:23970:95 1/1:-1382.02,-284.676,0:974:2:950:26227:28 0/1:-499.183,0,-811.836:1374:660:655:17679:19658 1/1:-815.232,-192.691,0:695:4:661:17675:98 0/1:-375.194,0,-626.763:1079:532:497:13392:15533 1/1:-1984.64,-436.766,0:1523:5:1476:39690:149 1/1:-1032.05,-236.51,0:843:6:803:21233:146 1/1:-2297.85,-483.749,0:1713:12:1657:45756:361 1/1:-1983.55,-411.908,0:1427:5:1383:38138:114 1/1:-1050.72,-257.745,0:907:4:869:23487:96 1/1:-2091.62,-436.625,0:1499:3:1461:40416:82 0/1:-421.083,0,-1115.78:1498:801:641:17374:23830 1/1:-889.586,-200.342,0:706:4:683:18367:118 1/1:-1663.37,-349.031,0:1198:4:1171:32741:74 1/1:-1868.09,-393.245,0:1383:8:1337:36127:165 . 1/1:-1643.61,-358.796,0:1232:3:1200:33446:64 0/1:-619.579,0,-1305.71:1844:953:824:23106:28448 0/1:-527.39,0,-934.483:1477:719:708:19759:21432 1/1:-979.793,-231.196,0:818:5:781:20680:92 1/1:-1532.46,-315.358,0:1088:5:1062:29713:121 1/1:-2176.15,-484.417,0:1677:7:1629:43524:138 1/1:-2041.76,-435.738,0:1493:4:1455:40438:63 1/1:-2009.05,-418.851,0:1475:8:1422:38430:190 1/1:-1202.61,-253.269,0:891:7:874:23462:202 1/1:-1086.98,-227.661,0:828:10:800:21750:263 0/1:-423.194,0,-980.299:1529:787:677:18610:22926 1/1:-2329.75,-479.382,0:1640:2:1600:43785:50 0/1:-600.062,0,-1162.09:1709:918:728:19440:26638 1/1:-1621.44,-351.89,0:1244:8:1205:32987:225 . 0/1:-465.941,0,-963.048:1413:725:636:17068:21694 1/1:-1199.45,-239.975,0:897:13:867:23974:419 1/1:-1785.96,-386.567,0:1362:11:1323:35934:280 0/1:-308.258,0,-597.765:853:431:396:10930:13165 0/1:-428.984,0,-705.806:1186:581:561:15512:16818 1/1:-2303.71,-496.14,0:1712:5:1666:45294:110 1/1:-1664.98,-361.303,0:1258:5:1221:32566:132 1/1:-2193.38,-443.58,0:1575:10:1526:42906:242 1/1:-2324.79,-500,0:1726:7:1670:45190:98 0/1:-549.45,0,-1082.59:1692:851:763:20933:24855 . 1/1:-3425.87,-576.215,0:1950:4:1926:60135:74:4,1926 1/1:-2603.33,-439.222,0:1498:4:1480:46359:122:4,1480 1/1:-3144.88,-530.464,0:1845:8:1818:57117:262:8,1818 1/1:-1869.09,-333.818,0:1138:3:1124:34585:100:3,1124 1/1:-2405.67,-430.477,0:1481:6:1462:45509:164:6,1462 1/1:-2855.42,-488.782,0:1658:3:1635:51079:64:3,1635 0/1:-758.59,0,-1370.57:1529:818:699:21890:26042:818,699 0/1:-808.241,0,-1445.8:1692:903:770:24027:28370:903,770 1/1:-2483.78,-436.628,0:1484:1:1459:45483:36:1,1459 1/1:-2441.25,-423.059,0:1484:9:1464:46125:263:9,1464 1/1:-2958.92,-500.934,0:1703:3:1685:52674:100:3,1685 0/1:-638.5,0,-1065.35:1241:648:583:17903:20379:648,583 1/1:-2476.12,-436.002,0:1466:2:1451:45324:35:2,1451 1/1:-2477.21,-424.217,0:1437:3:1428:44903:104:3,1428 1/1:-2660.64,-464.354,0:1608:9:1586:49481:245:9,1586 1/1:-2516.8,-424.02,0:1444:4:1428:44981:109:4,1428 0/1:-814.801,0,-1398.28:1601:845:742:22902:26852:845,742 1/1:-2353.5,-401.982,0:1381:5:1363:42732:150:5,1363 1/1:-2126.06,-382.897,0:1327:6:1314:40900:194:6,1314 1/1:-2858.49,-488.7,0:1694:10:1667:51683:294:10,1667 chr5 231042 . C T 4411.93 . AB=0.468655;ABP=17.0317;AC=1;AF=0.5;AN=2;AO=770;CIGAR=1X;DP=1643;DPB=1643;DPRA=0;EPP=6.27033;EPPR=65.8135;GTI=0;LEN=1;MEANALT=3;MQM=15.4247;MQMR=14.9268;NS=1;NUMALT=1;ODDS=1015.89;PAIRED=0.968831;PAIREDR=0.969512;PAO=0;PQA=0;PQR=0;PRO=0;QA=20763;QR=24880;RO=820;RPL=386;RPP=3.02158;RPPR=3.52933;RPR=384;RUN=1;SAF=414;SAP=12.4971;SAR=356;SF=0;SRF=444;SRP=15.2553;SRR=376;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon6:c.C678T:p.G226G,SDHA:NM_004168:exon7:c.C822T:p.G274G;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.0109;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0109;esp6500siv2_ea=0.0036;1000g2015aug_all=0.00998403;avsnp147=rs34771391;Kaviar_AF=0.0045407;Kaviar_AC=702;Kaviar_AN=154602;ExAC_ALL=0.0046;ExAC_AFR=0.0253;ExAC_AMR=0.0038;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0036;ExAC_OTH=0.0022;ExAC_SAS=0.0006;CLNALLELEID=226822;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2270;dpsi_zscore=-0.737;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0049;gnomAD_exome_AFR=0.0274;gnomAD_exome_AMR=0.0052;gnomAD_exome_ASJ=0.0288;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0080;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0090;gnomAD_genome_AFR=0.0256;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-451.133,0,-553.423:1643:820:770:20763:24880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 231111 . T C 9764.05 . AB=0.45941;ABP=18.5231;AC=157;AF=0.5;AN=212;AO=498;CIGAR=1X;DP=134140;DPB=1084;DPRA=0;EPP=7.47534;EPPR=24.7887;GTI=0;LEN=1;MEANALT=3;MQM=16.0321;MQMR=20.7473;NS=1;NUMALT=1;ODDS=748.228;PAIRED=0.945783;PAIREDR=0.965201;PAO=0;PQA=0;PQR=0;PRO=0;QA=14219;QR=16615;RO=546;RPL=326;RPP=106.421;RPPR=107.384;RPR=172;RUN=1;SAF=221;SAP=16.6845;SAR=277;SF=0,1;SRF=262;SRP=4.93519;SRR=284;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon6:c.T747C:p.P249P,SDHA:NM_004168:exon7:c.T891C:p.P297P;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.7687;esp6500siv2_ea=0.7582;esp6500siv2_all=0.7687;esp6500siv2_ea=0.7582;1000g2015aug_all=0.653355;avsnp147=rs1126417;Kaviar_AF=0.693354;Kaviar_AC=107194;Kaviar_AN=154602;ExAC_ALL=0.7078;ExAC_AFR=0.7843;ExAC_AMR=0.6455;ExAC_EAS=0.3281;ExAC_FIN=0.7652;ExAC_NFE=0.7574;ExAC_OTH=0.6872;ExAC_SAS=0.6801;CLNALLELEID=135730;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3151;dpsi_zscore=-0.875;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7014;gnomAD_exome_AFR=0.7879;gnomAD_exome_AMR=0.6539;gnomAD_exome_ASJ=0.6961;gnomAD_exome_EAS=0.3200;gnomAD_exome_FIN=0.7581;gnomAD_exome_NFE=0.7575;gnomAD_exome_OTH=0.7124;gnomAD_exome_SAS=0.6797;gnomAD_genome_ALL=0.7402;gnomAD_genome_AFR=0.7825;gnomAD_genome_AMR=0.6516;gnomAD_genome_ASJ=0.7067;gnomAD_genome_EAS=0.3323;gnomAD_genome_FIN=0.7666;gnomAD_genome_NFE=0.7589;gnomAD_genome_OTH=0.7423;Whole_Blood=Whole_Blood::0.254076::0.353472;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-344.984,0,-614.215:1084:546:498:14219:16615 1/1:-1698.55,-381.513,0:1346:11:1307:37881:252 0/1:-422.593,0,-785.432:1308:676:582:16947:20436 0/1:-324.824,0,-386.446:811:360:426:12123:10770 1/1:-1339.63,-322.159,0:1133:8:1102:32000:178 . 1/1:-1133.21,-271.252,0:972:8:939:27202:243 0/1:-573.49,0,-693.811:1385:655:699:20149:20176 1/1:-1672.71,-362.489,0:1243:5:1214:35551:136 1/1:-1690.78,-378.792,0:1379:17:1322:37476:460 1/1:-1434.81,-319.75,0:1156:12:1112:32086:321 1/1:-1450.89,-332.588,0:1162:6:1121:32326:153 0/1:-240.741,0,-636.735:1071:547:491:14932:16712 0/1:-346.973,0,-501.811:997:474:503:14288:14370 1/1:-1322.86,-286.108,0:1006:5:976:28567:167 0/1:-636.251,0,-1313.8:2010:1034:906:26359:31977 1/1:-1205.32,-279.232,0:986:5:959:27855:157 1/1:-3171.13,-754.254,0:2591:8:2532:73416:201 1/1:-1653.96,-352.985,0:1214:5:1193:35213:110 0/1:-342.096,0,-592.994:1029:512:489:14252:15496 0/1:-228,0,-705.679:952:541:380:10922:16279 1/1:-1575.9,-377.844,0:1346:8:1304:37929:210 1/1:-778.466,-185.318,0:684:7:660:19301:222 1/1:-2044.99,-452.086,0:1566:6:1526:44734:159 . 0/1:-305.719,0,-697.852:1119:597:489:13945:18025 0/1:-531.088,0,-782.494:1384:671:675:19477:20047 1/1:-1664.33,-350.897,0:1261:12:1226:35550:342 0/1:-349.488,0,-671.047:1151:568:538:15137:17142 1/1:-1052.63,-245.365,0:852:4:833:24407:116 0/1:-453.888,0,-627.135:1165:546:591:17608:16610 0/1:-546.966,0,-902.023:1549:766:749:22339:23576 1/1:-1846.75,-403.214,0:1398:8:1361:39833:200 1/1:-1554.81,-352.438,0:1348:25:1299:37316:717 0/1:-424.72,0,-747.351:1235:625:568:16862:19294 . 1/1:-2332.38,-487.347,0:1691:7:1640:47882:173 . 1/1:-1549.61,-338.857,0:1205:10:1164:33606:246 0/1:-327.213,0,-602.358:979:492:452:13082:14539 0/1:-472.582,0,-961.51:1501:796:657:19534:24293 0/1:-423.626,0,-726.158:1219:599:579:16690:18343 1/1:-1669.55,-368.898,0:1265:2:1234:36081:50 1/1:-1441.94,-308.017,0:1087:7:1052:30568:174 0/1:-416.649,0,-985.343:1531:832:655:19039:25310 0/1:-393.557,0,-917.225:1307:716:554:15684:21835 0/1:-369.662,0,-812.873:1249:662:552:15740:20129 0/1:-281.568,0,-431.277:762:372:369:10393:11464 1/1:-1209.45,-263.98,0:925:3:891:26286:77 . 1/1:-1830.19,-405.023,0:1411:8:1372:40155:192 0/1:-342.556,0,-648.536:1220:638:536:15358:18799 1/1:-1660.77,-391.407,0:1401:14:1358:40469:407 0/1:-513.918,0,-1137.83:1731:899:761:21916:27409 0/1:-265.47,0,-516.518:923:468:429:11988:14001 0/1:-351.514,0,-484.322:927:445:445:12860:13743 0/1:-514.724,0,-794.768:1419:691:682:19638:21008 1/1:-756.516,-185.847,0:668:5:649:18517:163 0/1:-387.915,0,-552.831:1003:477:494:14459:14408 1/1:-1717.87,-394.804,0:1406:12:1356:39589:296 1/1:-1035.77,-231.853,0:839:11:823:23934:316 1/1:-2068.41,-440.084,0:1630:21:1567:45822:570 1/1:-1684.73,-366.441,0:1277:4:1235:36310:96 1/1:-815.036,-222.5,0:788:8:762:21863:209 0/1:-519.476,0,-957.621:1645:842:754:21632:26088 0/1:-326.908,0,-818.962:1320:666:615:18175:20086 1/1:-1001.85,-227.874,0:794:3:767:21981:64 1/1:-1497.04,-322.469,0:1138:7:1099:32216:204 1/1:-1635.59,-358.452,0:1241:5:1205:34958:126 . 1/1:-1461.29,-345.72,0:1211:6:1168:34475:168 0/1:-525.357,0,-1153.82:1664:892:729:21624:27674 0/1:-510.381,0,-893.346:1538:767:732:20926:23062 1/1:-838.109,-210.387,0:780:13:745:20502:302 0/1:-382.148,0,-641.328:1108:551:526:15369:17196 1/1:-1714.35,-408.066,0:1457:11:1401:40718:318 1/1:-1995.26,-426.844,0:1521:15:1472:43011:352 . 0/1:-258.645,0,-477.461:894:439:432:12580:13270 1/1:-973.562,-214.677,0:785:11:761:22517:329 0/1:-309.49,0,-894.776:1415:731:635:18742:22418 0/1:-561.2,0,-868.723:1608:776:770:22188:23635 . 1/1:-1497.52,-333.315,0:1187:11:1146:32769:304 . 0/1:-350.363,0,-862.939:1267:695:523:15368:20669 0/1:-299.267,0,-536.912:926:473:427:12360:14651 1/1:-1744.24,-363.885,0:1335:19:1281:37364:557 0/1:-297.026,0,-450.169:806:390:382:11140:11594 0/1:-487.028,0,-722.287:1277:615:621:18205:18725 0/1:-447.951,0,-1051.11:1766:910:815:23973:27788 1/1:-1510.11,-326.68,0:1146:7:1115:32478:204 1/1:-1818.09,-399.361,0:1402:8:1356:39337:152 0/1:-310.096,0,-871.724:1468:775:643:18957:23513 0/1:-523.958,0,-924.398:1491:746:694:20089:22496 . 0/1:-857.751,0,-1090.02:1711:829:855:26702:25797:829,855 0/1:-634.108,0,-957.659:1400:710:670:20846:21996:710,670 1/1:-2468.62,-456.114,0:1586:7:1558:48681:210:7,1558 1/1:-1238.03,-248.204,0:865:4:848:26202:127:4,848 1/1:-1770.15,-360.492,0:1242:5:1226:37728:127:5,1226 0/1:-791.541,0,-1019.97:1594:770:799:24575:24203:770,799 0/1:-633.249,0,-993.844:1345:675:648:19933:21118:675,648 0/1:-624.624,0,-1153.47:1484:775:682:21372:23769:775,682 1/1:-2060.33,-388.119,0:1358:7:1323:41462:160:7,1323 1/1:-1739.91,-339.271,0:1260:18:1228:38565:565:18,1228 0/1:-688.497,0,-1109.99:1525:793:715:22213:24771:793,715 0/1:-498.423,0,-779.722:1054:533:502:15558:16439:533,502 1/1:-1967.07,-361.722,0:1281:7:1257:39236:244:7,1257 0/1:-636.319,0,-970.702:1375:690:653:20469:21535:690,653 1/1:-2321.9,-433.613,0:1530:14:1501:46768:412:14,1501 0/1:-650.747,0,-892.519:1344:660:662:20172:20662:660,662 0/1:-697.351,0,-1341.96:1648:883:742:23080:27238:883,742 0/1:-500.55,0,-783.934:1271:593:662:20652:18511:593,662 1/1:-1762.64,-357.546,0:1230:6:1209:37929:181:6,1209 0/1:-481.066,0,-1178:1590:851:723:23072:26418:851,723 chr5 231143 . T C 2299.53 . AB=0.424173;ABP=46.8087;AC=27;AF=0.5;AN=52;AO=372;CIGAR=1X;DP=24365;DPB=877;DPRA=0;EPP=18.7943;EPPR=7.80251;GTI=0;LEN=1;MEANALT=3;MQM=13.7097;MQMR=17.4763;NS=1;NUMALT=1;ODDS=339.352;PAIRED=0.965054;PAIREDR=0.950431;PAO=0;PQA=0;PQR=0;PRO=0;QA=10833;QR=13510;RO=464;RPL=252;RPP=104.719;RPPR=63.8302;RPR=120;RUN=1;SAF=130;SAP=76.2333;SAR=242;SF=0,1;SRF=179;SRP=55.5936;SRR=285;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.2710;esp6500siv2_ea=0.1356;esp6500siv2_all=0.2710;esp6500siv2_ea=0.1356;1000g2015aug_all=0.247404;avsnp147=rs2288459;Kaviar_AF=0.152702;Kaviar_AC=23608;Kaviar_AN=154602;ExAC_ALL=0.1560;ExAC_AFR=0.5380;ExAC_AMR=0.1843;ExAC_EAS=0.0618;ExAC_FIN=0.0915;ExAC_NFE=0.1276;ExAC_OTH=0.1353;ExAC_SAS=0.0903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0537;dpsi_zscore=-0.282;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1507;gnomAD_exome_AFR=0.5466;gnomAD_exome_AMR=0.1881;gnomAD_exome_ASJ=0.1644;gnomAD_exome_EAS=0.0600;gnomAD_exome_FIN=0.0861;gnomAD_exome_NFE=0.1278;gnomAD_exome_OTH=0.1560;gnomAD_exome_SAS=0.0901;gnomAD_genome_ALL=0.2261;gnomAD_genome_AFR=0.5263;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.0499;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1139;gnomAD_genome_OTH=0.1327;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-176.652,0,-417.114:877:464:372:10833:13510 . 0/1:-198.79,0,-303.242:755:360:359:10587:10564 . . . . . 0/1:-160.188,0,-532.177:814:441:348:10107:13149 . . . . 0/1:-474.983,0,-953.219:2024:1039:899:26563:30931 . . . 0/1:-266.893,0,-431.449:1042:514:480:13958:14973 0/1:-101.599,0,-268.805:550:302:226:6788:8977 . . . . . . 0/1:-168.262,0,-326.534:680:348:297:8817:10176 . . . 0/1:-287.833,0,-438.63:1060:509:500:14256:14665 . . . . . . . . . . . . . . . . . . 0/1:-259.028,0,-473.814:1058:526:485:14124:15484 . . . . 0/1:-99.4595,0,-222.081:534:275:226:6542:7957 . 0/1:-249.776,0,-534.007:1118:584:484:13914:17084 . . . 1/1:-613.548,-158.614,0:590:10:557:15765:242 . 0/1:-288.577,0,-557.912:1003:475:478:14332:14122 . . . . 0/1:-194.1,0,-430.025:936:481:421:12089:14019 . . . . 0/1:-316.679,0,-442.931:1159:548:558:16132:15950 . . 0/1:-200.616,0,-366.858:677:327:315:9252:9469 0/1:-111.532,0,-331.642:597:341:234:7042:10352 0/1:-262.262,0,-664.355:1078:554:493:14532:16326 . . . . . . . . . 0/1:-340.901,0,-773.082:1348:676:612:18064:19850 . . 0/1:-223.694,0,-670.771:1069:558:469:13850:16991 . . . . . 0/1:-285.921,0,-308.007:648:301:329:10353:8945:301,329 0/1:-287.505,0,-533.074:932:505:408:12702:15402:505,408 . . . . 0/1:-316.399,0,-508.643:933:475:430:13552:14208:475,430 . . . . . . . 0/1:-368.561,0,-581.681:898:425:452:14204:12887:425,452 0/1:-286.937,0,-520.682:886:466:396:12590:13963:466,396 0/1:-325.094,0,-819.984:1099:575:486:15325:17655:575,486 chr5 233665 . C T 3044.51 . AB=0.482412;ABP=6.2184;AC=4;AF=0.5;AN=8;AO=576;CIGAR=1X;DP=4503;DPB=1194;DPRA=0;EPP=3.07062;EPPR=8.21651;GTI=0;LEN=1;MEANALT=3;MQM=15.1944;MQMR=16.6147;NS=1;NUMALT=1;ODDS=753.921;PAIRED=0.967014;PAIREDR=0.970228;PAO=0;PQA=0;PQR=0;PRO=0;QA=15432;QR=17410;RO=571;RPL=221;RPP=70.7029;RPPR=99.1521;RPR=355;RUN=1;SAF=255;SAP=19.4321;SAR=321;SF=0;SRF=240;SRP=34.5024;SRR=331;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.C825T:p.G275G,SDHA:NM_004168:exon8:c.C969T:p.G323G;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0074;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0074;1000g2015aug_all=0.00399361;avsnp147=rs142849100;Kaviar_AF=0.0065523;Kaviar_AC=1013;Kaviar_AN=154602;ExAC_ALL=0.0070;ExAC_AFR=0.0008;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0066;ExAC_OTH=0.0033;ExAC_SAS=0.0220;CLNALLELEID=150956;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0729;dpsi_zscore=-0.359;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0073;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0247;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0017;gnomAD_exome_NFE=0.0061;gnomAD_exome_OTH=0.0077;gnomAD_exome_SAS=0.0227;gnomAD_genome_ALL=0.0042;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-343.961,0,-445.497:1194:571:576:15432:17410 . . . . . . . . . . . . . . . . . . . . 0/1:-380.991,0,-463.176:1259:604:614:17420:18241 . . . . . . . . . . . 0/1:-411.243,0,-547.877:1384:681:647:18186:20949 . . . . . . . . . . . . . . . . . . . . . 0/1:-136.51,0,-276.484:666:370:273:7695:11302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 233698 . G A 2919.61 . AB=0.502528;ABP=3.06519;AC=3;AF=0.5;AN=6;AO=497;CIGAR=1X;DP=3030;DPB=989;DPRA=0;EPP=23.8119;EPPR=21.7748;GTI=0;LEN=1;MEANALT=3;MQM=14.9215;MQMR=17.097;NS=1;NUMALT=1;ODDS=730.614;PAIRED=0.975855;PAIREDR=0.947257;PAO=0;PQA=0;PQR=0;PRO=0;QA=14646;QR=14837;RO=474;RPL=272;RPP=12.6618;RPPR=20.6203;RPR=225;RUN=1;SAF=230;SAP=8.99168;SAR=267;SF=0;SRF=213;SRP=13.5653;SRR=261;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.G858A:p.A286A,SDHA:NM_004168:exon8:c.G1002A:p.A334A;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000399361;avsnp147=rs144252500;Kaviar_AF=0.0008215;Kaviar_AC=127;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0002;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=247306;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4338;dpsi_zscore=-1.022;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-328.996,0,-396.915:989:474:497:14646:14837 . 0/1:-230.794,0,-339.756:851:440:394:11350:13304 . 0/1:-355.343,0,-506.653:1190:602:562:16553:18517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 233734 . C G 1844.12 . AB=0.464253;ABP=14.9645;AC=27;AF=0.5;AN=52;AO=500;CIGAR=1X;DP=34175;DPB=1077;DPRA=0;EPP=24.2907;EPPR=6.75677;GTI=0;LEN=1;MEANALT=3;MQM=10.132;MQMR=16.8528;NS=1;NUMALT=1;ODDS=242.188;PAIRED=0.97;PAIREDR=0.960503;PAO=0;PQA=0;PQR=0;PRO=0;QA=14095;QR=15782;RO=557;RPL=310;RPP=65.5487;RPPR=61.9909;RPR=190;RUN=1;SAF=253;SAP=3.16665;SAR=247;SF=0,1;SRF=251;SRP=14.8033;SRR=306;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.C894G:p.S298S,SDHA:NM_004168:exon8:c.C1038G:p.S346S;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.2824;esp6500siv2_ea=0.1373;esp6500siv2_all=0.2824;esp6500siv2_ea=0.1373;1000g2015aug_all=0.257788;avsnp147=rs1041949;Kaviar_AF=0.157113;Kaviar_AC=24290;Kaviar_AN=154602;ExAC_ALL=0.1597;ExAC_AFR=0.5675;ExAC_AMR=0.1872;ExAC_EAS=0.0625;ExAC_FIN=0.0915;ExAC_NFE=0.1283;ExAC_OTH=0.1388;ExAC_SAS=0.0902;CLNALLELEID=135720;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1914;dpsi_zscore=0.706;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1539;gnomAD_exome_AFR=0.5769;gnomAD_exome_AMR=0.1900;gnomAD_exome_ASJ=0.1751;gnomAD_exome_EAS=0.0603;gnomAD_exome_FIN=0.0862;gnomAD_exome_NFE=0.1285;gnomAD_exome_OTH=0.1590;gnomAD_exome_SAS=0.0902;gnomAD_genome_ALL=0.2339;gnomAD_genome_AFR=0.5549;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.17;gnomAD_genome_EAS=0.0506;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1132;gnomAD_genome_OTH=0.1316;Whole_Blood=Whole_Blood::0.169377::-0.339828;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-122.25,0,-455.223:1077:557:500:14095:15782 . . . . . 0/1:-118.81,0,-529.567:1182:630:532:14945:18150 . . . . 0/1:-303.292,0,-1073.46:2567:1320:1205:33894:38049 . . . 0/1:-199.391,0,-566.33:1432:719:693:19174:20445 0/1:-68.7595,0,-287.466:672:358:304:8294:10417 . . . . . . 0/1:-173.379,0,-355.503:984:471:500:14295:13572 . . . 0/1:-152.035,0,-613.277:1443:771:643:18011:22123 0/1:-235.572,0,-531.545:1288:656:612:17305:19051 . . . . . . . . . . . . . . . . . 0/1:-195.911,0,-668.456:1599:797:786:22159:23080 . . . . 0/1:-71.4103,0,-251.726:637:327:297:8126:9287 . 0/1:-189.905,0,-603.609:1453:741:682:18747:21191 . . . 1/1:-608.288,-219.738,0:775:11:754:21233:264 . 0/1:-143.341,0,-622.845:1372:744:613:17155:21544 . . . . 0/1:-144.183,0,-491.677:1244:625:600:16827:17613 . . . . 0/1:-112.366,0,-659.802:1487:801:654:18219:22858 . . 0/1:-80.4057,0,-343.669:856:435:398:10728:12869 0/1:-57.5612,0,-317.947:653:362:279:7674:10477 0/1:-124.817,0,-564.741:1342:691:609:16706:20458 . . . . . . . . . 0/1:-247.515,0,-672.849:1769:875:863:24456:25040 . . 0/1:-199.237,0,-568.858:1514:747:741:20740:21514 . . . . . 0/1:-216.036,0,-525.55:1011:505:491:15149:15030:505,491 0/1:-351.561,0,-752.984:1523:726:774:24060:22242:726,774 . . . . 0/1:-305.748,0,-804.259:1506:756:727:22513:22857:756,727 . . . . . . . 0/1:-288.959,0,-904.346:1500:788:691:21179:24219:788,691 0/1:-336.853,0,-821.271:1463:728:720:22529:22604:728,720 0/1:-383.69,0,-990.42:1826:917:880:27256:28068:917,880 chr5 235364 . C T 4098.26 . AB=0;ABP=0;AC=4;AF=1;AN=6;AO=630;CIGAR=1X;DP=2988;DPB=659;DPRA=0;EPP=10.3037;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=13.1968;MQMR=13.1667;NS=1;NUMALT=1;ODDS=813.163;PAIRED=0.963492;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=17660;QR=296;RO=12;RPL=435;RPP=201.545;RPPR=3.73412;RPR=195;RUN=1;SAF=273;SAP=27.3308;SAR=357;SF=0;SRF=6;SRP=3.0103;SRR=6;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon8:c.C1026T:p.F342F,SDHA:NM_004168:exon9:c.C1170T:p.F390F;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.1123;esp6500siv2_ea=0.0035;esp6500siv2_all=0.1123;esp6500siv2_ea=0.0035;1000g2015aug_all=0.113618;avsnp147=rs35277230;Kaviar_AF=0.0312415;Kaviar_AC=4830;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.3322;ExAC_AMR=0.0200;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0032;ExAC_OTH=0.0220;ExAC_SAS=0.0007;CLNALLELEID=135721;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0584;dpsi_zscore=-0.302;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0266;gnomAD_exome_AFR=0.3396;gnomAD_exome_AMR=0.0229;gnomAD_exome_ASJ=0.0126;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.484e-05;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0224;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0932;gnomAD_genome_AFR=0.3225;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0092;Whole_Blood=Whole_Blood::0.0487805::-0.456448;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-687.443,-180.226,0:659:12:630:17660:296 . . . . . . . . . . . 0/1:-290.127,0,-513.483:1187:627:536:15101:19454 . . . . 0/1:-310.664,0,-407.074:1142:566:554:15659:17374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 236587 . G T 527.50 . AB=0.456706;ABP=22.1886;AC=5;AF=0.5;AN=10;AO=538;CIGAR=1X;DP=4411;DPB=1178;DPRA=0;EPP=3.26862;EPPR=15.498;GTI=0;LEN=1;MEANALT=3;MQM=9.5;MQMR=9.54952;NS=1;NUMALT=1;ODDS=133.631;PAIRED=0.95539;PAIREDR=0.942492;PAO=0;PQA=0;PQR=0;PRO=0;QA=14568;QR=18958;RO=626;RPL=233;RPP=23.9339;RPPR=85.2765;RPR=305;RUN=1;SAF=322;SAP=48.361;SAR=216;SF=0,1;SRF=357;SRP=29.8727;SRR=269;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon9:c.G1161T:p.L387L,SDHA:NM_004168:exon10:c.G1305T:p.L435L;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0208;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0208;1000g2015aug_all=0.0151757;avsnp147=rs150831951;Kaviar_AF=0.0176582;Kaviar_AC=2730;Kaviar_AN=154602;ExAC_ALL=0.0193;ExAC_AFR=0.0025;ExAC_AMR=0.0080;ExAC_EAS=0;ExAC_FIN=0.0364;ExAC_NFE=0.0235;ExAC_OTH=0.0121;ExAC_SAS=0.0242;CLNALLELEID=226823;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0702;dpsi_zscore=-0.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0190;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0099;gnomAD_exome_ASJ=0.0453;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0358;gnomAD_exome_NFE=0.0197;gnomAD_exome_OTH=0.0254;gnomAD_exome_SAS=0.0240;gnomAD_genome_ALL=0.0164;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0395;gnomAD_genome_NFE=0.0196;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-74.1791,0,-167.897:1178:626:538:14568:18958 . . . . . . . 0/1:-71.4979,0,-188.991:1007:554:438:12217:16945 . 0/1:-84.4437,0,-187.496:983:522:454:12987:15838 . . . . . . . . . . . . . 0/1:-16.2596,0,-52.5175:604:336:258:7130:10222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-100.612,0,-211.194:639:354:284:8782:11195:354,284 . . . . . . . . . . . . . . . . chr5 236695 . C T 1189.92 . AB=0.494232;ABP=3.33592;AC=1;AF=0.5;AN=2;AO=557;CIGAR=1X;DP=1127;DPB=1127;DPRA=0;EPP=18.4835;EPPR=49.0613;GTI=0;LEN=1;MEANALT=3;MQM=9.74147;MQMR=7.86727;NS=1;NUMALT=1;ODDS=45.143;PAIRED=0.976661;PAIREDR=0.94;PAO=0;PQA=0;PQR=0;PRO=0;QA=16054;QR=15569;RO=550;RPL=333;RPP=49.3285;RPPR=89.4902;RPR=224;RUN=1;SAF=240;SAP=26.1246;SAR=317;SF=0;SRF=226;SRP=40.9282;SRR=324;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon9:c.C1269T:p.I423I,SDHA:NM_004168:exon10:c.C1413T:p.I471I;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0036;1000g2015aug_all=0.000798722;avsnp147=rs34779890;Kaviar_AF=0.001934;Kaviar_AC=299;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0008;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0033;ExAC_OTH=0.0011;ExAC_SAS=0.0015;CLNALLELEID=226825;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3041;dpsi_zscore=-0.859;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0281;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0233;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-135.551,0,-44.8114:1127:550:557:16054:15569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 251178 . G A 3262.57 . AB=0.475965;ABP=10.4215;AC=1;AF=0.5;AN=2;AO=703;CIGAR=1X;DP=1477;DPB=1477;DPRA=0;EPP=5.26208;EPPR=13.7484;GTI=0;LEN=1;MEANALT=3;MQM=13.074;MQMR=15.853;NS=1;NUMALT=1;ODDS=751.234;PAIRED=0.960171;PAIREDR=0.96978;PAO=0;PQA=0;PQR=0;PRO=0;QA=19740;QR=22180;RO=728;RPL=403;RPP=35.7801;RPPR=5.69481;RPR=300;RUN=1;SAF=300;SAP=35.7801;SAR=403;SF=0;SRF=301;SRP=50.3651;SRR=427;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon11:c.G1479A:p.K493K,SDHA:NM_004168:exon12:c.G1623A:p.K541K;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0028;1000g2015aug_all=0.00199681;avsnp147=rs35502109;Kaviar_AF=0.0019922;Kaviar_AC=308;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0008;ExAC_AMR=0.0019;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0029;ExAC_OTH=0.0044;ExAC_SAS=0.0010;CLNALLELEID=247307;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0250;dpsi_zscore=-0.136;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-341.386,0,-540.205:1477:728:703:19740:22180 . . . . . . . . . . . . . . . . . . . . . chr5 251199 . C T 709.48 . AB=0.449173;ABP=21.994;AC=1;AF=0.5;AN=2;AO=380;CIGAR=1X;DP=846;DPB=846;DPRA=0;EPP=64.8173;EPPR=81.0086;GTI=0;LEN=1;MEANALT=3;MQM=10.7842;MQMR=14.4529;NS=1;NUMALT=1;ODDS=163.363;PAIRED=0.952632;PAIREDR=0.942529;PAO=0;PQA=0;PQR=0;PRO=0;QA=10455;QR=13943;RO=435;RPL=236;RPP=51.377;RPPR=55.9693;RPR=144;RUN=1;SAF=154;SAP=32.6338;SAR=226;SF=0;SRF=151;SRP=91.3119;SRR=284;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon11:c.C1500T:p.H500H,SDHA:NM_004168:exon12:c.C1644T:p.H548H;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs1126427;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.648e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=395538;CLNDN=Mitochondrial_complex_II_deficiency|Paragangliomas_5;CLNDISDB=MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0508;dpsi_zscore=0.301;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.133e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.796e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.455e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-93.5594,0,-297.489:846:435:380:10455:13943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 251469 . G A 2309.79 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=649;CIGAR=1X;DP=812;DPB=812;DPRA=0;EPP=28.3352;EPPR=5.76954;GTI=0;LEN=1;MEANALT=3;MQM=4.25886;MQMR=1.64662;NS=1;NUMALT=1;ODDS=531.848;PAIRED=0.972265;PAIREDR=0.849624;PAO=0;PQA=0;PQR=0;PRO=0;QA=17354;QR=4144;RO=133;RPL=307;RPP=7.109;RPPR=126.588;RPR=342;RUN=1;SAF=296;SAP=13.881;SAR=353;SF=0;SRF=61;SRP=4.98585;SRR=72;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.G1536A:p.T512T,SDHA:NM_004168:exon13:c.G1680A:p.T560T;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.248403;avsnp147=rs10039029;Kaviar_AF=0.136589;Kaviar_AC=21117;Kaviar_AN=154602;ExAC_ALL=0.1527;ExAC_AFR=0.5266;ExAC_AMR=0.1825;ExAC_EAS=0.0613;ExAC_FIN=0.0909;ExAC_NFE=0.1280;ExAC_OTH=0.1369;ExAC_SAS=0.0901;CLNALLELEID=135723;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7648;dpsi_zscore=-1.319;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1448;gnomAD_exome_AFR=0.5335;gnomAD_exome_AMR=0.1811;gnomAD_exome_ASJ=0.1610;gnomAD_exome_EAS=0.0582;gnomAD_exome_FIN=0.0844;gnomAD_exome_NFE=0.1231;gnomAD_exome_OTH=0.1519;gnomAD_exome_SAS=0.0882;gnomAD_genome_ALL=0.2252;gnomAD_genome_AFR=0.5265;gnomAD_genome_AMR=0.1854;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.0501;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1131;gnomAD_genome_OTH=0.1301;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-222.254,-215.956,0:812:133:649:17354:4144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 251541 . A G 853.53 . AB=0.477858;ABP=7.14527;AC=11;AF=0.5;AN=20;AO=464;CIGAR=1X;DP=10806;DPB=971;DPRA=0;EPP=47.956;EPPR=81.8834;GTI=0;LEN=1;MEANALT=3;MQM=7.71552;MQMR=12.3429;NS=1;NUMALT=1;ODDS=26.3923;PAIRED=0.943966;PAIREDR=0.928131;PAO=0;PQA=0;PQR=0;PRO=0;QA=14439;QR=14282;RO=487;RPL=275;RPP=37.6228;RPPR=28.0915;RPR=189;RUN=1;SAF=208;SAP=13.7928;SAR=256;SF=0,1;SRF=231;SRP=5.7971;SRR=256;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.A1608G:p.A536A,SDHA:NM_004168:exon13:c.A1752G:p.A584A;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.2696;esp6500siv2_ea=0.1357;esp6500siv2_all=0.2696;esp6500siv2_ea=0.1357;1000g2015aug_all=0.248403;avsnp147=rs13070;Kaviar_AF=0.0006145;Kaviar_AC=95;Kaviar_AN=154602;ExAC_ALL=0.1559;ExAC_AFR=0.5376;ExAC_AMR=0.1828;ExAC_EAS=0.0620;ExAC_FIN=0.0915;ExAC_NFE=0.1276;ExAC_OTH=0.1336;ExAC_SAS=0.0902;CLNALLELEID=135724;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1184;dpsi_zscore=0.537;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1501;gnomAD_exome_AFR=0.5468;gnomAD_exome_AMR=0.1871;gnomAD_exome_ASJ=0.1636;gnomAD_exome_EAS=0.0597;gnomAD_exome_FIN=0.0859;gnomAD_exome_NFE=0.1272;gnomAD_exome_OTH=0.1558;gnomAD_exome_SAS=0.0899;gnomAD_genome_ALL=0.2261;gnomAD_genome_AFR=0.5269;gnomAD_genome_AMR=0.1902;gnomAD_genome_ASJ=0.16;gnomAD_genome_EAS=0.0501;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1137;gnomAD_genome_OTH=0.1319;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-28.5349,0,-206.743:971:487:464:14439:14282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-33.9979,0,-248.067:1152:566:560:16944:16798 . . . . . . . . . . 1/1:-314.378,-159.492,0:578:18:552:16754:496 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-20.6661,0,-229.909:1186:570:591:18249:16823 . . . . . . . . 0/1:-69.9692,0,-246.384:800:393:403:12422:12389:393,403 0/1:-111.909,0,-423.94:1217:608:584:18862:18595:608,584 . . . . 0/1:-88.4493,0,-492.755:1275:680:572:18093:20581:680,572 . . . . . . . 0/1:-147.634,0,-352.423:1194:576:596:19339:18009:576,596 0/1:-64.3084,0,-421.774:1042:547:479:15308:16922:547,479 0/1:-147.602,0,-499.614:1391:695:674:21735:21368:695,674 chr5 251590 . C T 2454.24 . AB=0.440736;ABP=29.5203;AC=1;AF=0.5;AN=2;AO=383;CIGAR=1X;DP=869;DPB=869;DPRA=0;EPP=38.3945;EPPR=3.56345;GTI=0;LEN=1;MEANALT=3;MQM=16.1018;MQMR=12.3705;NS=1;NUMALT=1;ODDS=506.415;PAIRED=0.939948;PAIREDR=0.947368;PAO=0;PQA=0;PQR=0;PRO=0;QA=11636;QR=15308;RO=475;RPL=249;RPP=77.9913;RPPR=238.576;RPR=134;RUN=1;SAF=190;SAP=3.06133;SAR=193;SF=1;SRF=242;SRP=3.38059;SRR=233;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0625;dpsi_zscore=0.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-266.456,0,-254.534:869:475:383:11636:15308:475,383 . . chr5 254599 . A T 1788.73 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=584;CIGAR=1X;DP=719;DPB=719;DPRA=0;EPP=44.7888;EPPR=5.29507;GTI=0;LEN=1;MEANALT=3;MQM=4.34247;MQMR=1.49565;NS=1;NUMALT=1;ODDS=411.87;PAIRED=0.94863;PAIREDR=0.834783;PAO=0;PQA=0;PQR=0;PRO=0;QA=16672;QR=3445;RO=115;RPL=394;RPP=157.75;RPPR=7.25883;RPR=190;RUN=1;SAF=215;SAP=91.1929;SAR=369;SF=0;SRF=58;SRP=3.02918;SRR=57;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon13:c.A1742T:p.Y581F,SDHA:NM_004168:exon14:c.A1886T:p.Y629F;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.0927;esp6500siv2_ea=0.0448;esp6500siv2_all=0.0927;esp6500siv2_ea=0.0448;1000g2015aug_all=.;avsnp147=rs6960;Kaviar_AF=0.0751025;Kaviar_AC=11611;Kaviar_AN=154602;ExAC_ALL=0.1515;ExAC_AFR=0.5289;ExAC_AMR=0.2387;ExAC_EAS=0.0657;ExAC_FIN=0.0901;ExAC_NFE=0.1268;ExAC_OTH=0.1185;ExAC_SAS=0.0901;CLNALLELEID=226818;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.669;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.415;MutationAssessor_pred=L;FATHMM_score=-1.36;FATHMM_pred=T;PROVEAN_score=-1.22;PROVEAN_pred=N;VEST3_score=0.263;CADD_raw=0.503;CADD_phred=7.453;DANN_score=0.643;fathmm-MKL_coding_score=0.809;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.068;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.85;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.117;phastCons7way_vertebrate=0.788;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=8.251;GDI_full_10282015=.;dpsi_max_tissue=-3.1994;dpsi_zscore=-2.197;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1421;gnomAD_exome_AFR=0.5338;gnomAD_exome_AMR=0.1872;gnomAD_exome_ASJ=0.1623;gnomAD_exome_EAS=0.0565;gnomAD_exome_FIN=0.0824;gnomAD_exome_NFE=0.1224;gnomAD_exome_OTH=0.1631;gnomAD_exome_SAS=0.0894;gnomAD_genome_ALL=0.2188;gnomAD_genome_AFR=0.5146;gnomAD_genome_AMR=0.1878;gnomAD_genome_ASJ=0.16;gnomAD_genome_EAS=0.0491;gnomAD_genome_FIN=0.0809;gnomAD_genome_NFE=0.1118;gnomAD_genome_OTH=0.1289;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-208.156,-195.265,0:719:115:584:16672:3445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 254636 . C T 1843.82 . AB=0;ABP=0;AC=14;AF=1;AN=14;AO=735;CIGAR=1X;DP=7308;DPB=1689;DPRA=0;EPP=73.9894;EPPR=230.102;GTI=0;LEN=1;MEANALT=3;MQM=5.86122;MQMR=3.16648;NS=1;NUMALT=1;ODDS=489.726;PAIRED=0.942857;PAIREDR=0.915663;PAO=0;PQA=0;PQR=0;PRO=0;QA=21370;QR=29849;RO=913;RPL=452;RPP=87.3905;RPPR=783.906;RPR=283;RUN=1;SAF=327;SAP=22.394;SAR=408;SF=0;SRF=394;SRP=40.1727;SRR=519;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0355431;avsnp147=rs35549341;Kaviar_AF=0.0075096;Kaviar_AC=1161;Kaviar_AN=154602;ExAC_ALL=0.0679;ExAC_AFR=0.0217;ExAC_AMR=0.0535;ExAC_EAS=0;ExAC_FIN=0.1520;ExAC_NFE=0.1175;ExAC_OTH=0.0882;ExAC_SAS=0.0156;CLNALLELEID=251943;CLNDN=Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7888;dpsi_zscore=1.378;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0778;gnomAD_exome_AFR=0.0157;gnomAD_exome_AMR=0.0599;gnomAD_exome_ASJ=0.0982;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.1197;gnomAD_exome_NFE=0.1164;gnomAD_exome_OTH=0.0891;gnomAD_exome_SAS=0.0151;gnomAD_genome_ALL=0.0831;gnomAD_genome_AFR=0.0217;gnomAD_genome_AMR=0.0637;gnomAD_genome_ASJ=0.0833;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1274;gnomAD_genome_NFE=0.1161;gnomAD_genome_OTH=0.0994;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 1/1:-119.123,-239.032,0:1689:913:735:21370:29849 . . . 1/1:-51.1955,-124.349,0:854:476:356:10054:15340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-387.122,-275.536,0:1013:161:833:24224:5102 . 1/1:-37.5953,-131.614,0:900:523:364:10557:16964 . . . . . . 1/1:-53.0945,-128.772,0:961:545:397:11383:17596 . . . . . . . . . . . . . . . 1/1:-61.0639,-124.509,0:1005:536:450:12719:17122 . . . . . . . . . . . . . . . 1/1:-316.476,-236.081,0:886:186:672:19685:5975 . . . . . . . . . . . . . . . . . . . . . . . . chr5 256470 . G A 2418.60 . AB=0.438642;ABP=28.0588;AC=1;AF=0.5;AN=2;AO=336;CIGAR=1X;DP=766;DPB=766;DPRA=0;EPP=14.4105;EPPR=20.486;GTI=0;LEN=1;MEANALT=3;MQM=20.0774;MQMR=20.7464;NS=1;NUMALT=1;ODDS=556.903;PAIRED=0.985119;PAIREDR=0.976077;PAO=0;PQA=0;PQR=0;PRO=0;QA=9731;QR=12341;RO=418;RPL=101;RPP=119.055;RPPR=80.3313;RPR=235;RUN=1;SAF=170;SAP=3.1137;SAR=166;SF=0;SRF=192;SRP=9.01562;SRR=226;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon14:c.G1786A:p.V596M,SDHA:NM_004168:exon15:c.G1930A:p.V644M;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs3211483;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.295e-05;ExAC_AFR=0.0004;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=395107;CLNDN=Mitochondrial_complex_II_deficiency|Paragangliomas_5;CLNDISDB=MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.024;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.555;MutationAssessor_pred=H;FATHMM_score=-1.89;FATHMM_pred=D;PROVEAN_score=-2.27;PROVEAN_pred=N;VEST3_score=0.709;CADD_raw=5.629;CADD_phred=26.6;DANN_score=0.998;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=0.859;MetaSVM_pred=D;MetaLR_score=0.809;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.12;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.893;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.955;SiPhy_29way_logOdds=13.859;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.439e-05;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-264.465,0,-428.28:766:418:336:9731:12341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 256472 . G A 2400.12 . AB=0.520875;ABP=6.81793;AC=27;AF=0.5;AN=68;AO=524;CIGAR=1X;DP=31866;DPB=1006;DPRA=0;EPP=68.8009;EPPR=36.3188;GTI=0;LEN=1;MEANALT=3;MQM=13.4752;MQMR=21.0304;NS=1;NUMALT=1;ODDS=485.265;PAIRED=0.975191;PAIREDR=0.984783;PAO=0;PQA=0;PQR=0;PRO=0;QA=15499;QR=13394;RO=460;RPL=184;RPP=103.859;RPPR=166.324;RPR=340;RUN=1;SAF=265;SAP=3.15949;SAR=259;SF=0,1;SRF=229;SRP=3.02918;SRR=231;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon14:c.G1788A:p.V596V,SDHA:NM_004168:exon15:c.G1932A:p.V644V;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.2783;esp6500siv2_ea=0.1436;esp6500siv2_all=0.2783;esp6500siv2_ea=0.1436;1000g2015aug_all=0.335264;avsnp147=rs6961;Kaviar_AF=0.166518;Kaviar_AC=25744;Kaviar_AN=154602;ExAC_ALL=0.1716;ExAC_AFR=0.5512;ExAC_AMR=0.2069;ExAC_EAS=0.0866;ExAC_FIN=0.1133;ExAC_NFE=0.1407;ExAC_OTH=0.1484;ExAC_SAS=0.0981;CLNALLELEID=135725;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1556;gnomAD_exome_AFR=0.5563;gnomAD_exome_AMR=0.1928;gnomAD_exome_ASJ=0.1670;gnomAD_exome_EAS=0.0626;gnomAD_exome_FIN=0.0895;gnomAD_exome_NFE=0.1323;gnomAD_exome_OTH=0.1601;gnomAD_exome_SAS=0.0916;gnomAD_genome_ALL=0.2417;gnomAD_genome_AFR=0.5394;gnomAD_genome_AMR=0.2049;gnomAD_genome_ASJ=0.1727;gnomAD_genome_EAS=0.0572;gnomAD_genome_FIN=0.0907;gnomAD_genome_NFE=0.1233;gnomAD_genome_OTH=0.1422;Whole_Blood=Whole_Blood::0.171875::-0.34135;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-236.485,0,-431.679:1006:460:524:15499:13394 . 0/1:-204.657,0,-423.833:770:388:368:11126:11651 . . . . . 0/1:-243.13,0,-445.748:796:406:367:10556:12068 . . . . 0/1:-408.275,0,-867.952:1710:827:847:24780:24908 . . . 0/1:-264.206,0,-602.497:1087:523:534:16111:15606 0/1:-208.126,0,-327.605:648:303:327:9493:9029 . . . . . . 0/1:-222.507,0,-372.938:700:342:343:9929:10059 . . . 0/1:-260.184,0,-488.389:1159:506:622:17513:14861 . . . . . . . . . . . . . . . . . . 0/1:-369.834,0,-566.449:1207:539:641:18953:16191 . . . . 0/1:-115.81,0,-346.436:593:318:258:7603:9420 . 0/1:-208.888,0,-500.771:865:434:407:11855:12915 . . . 1/1:-857.14,-218.699,0:790:7:769:21936:229 . 0/1:-230.917,0,-534.188:1002:491:492:14841:14527 . . . . 0/1:-291.041,0,-384.659:842:361:457:13383:10627 . . . . 0/1:-310.27,0,-440.532:1092:462:606:17154:13353 . . 0/1:-149.355,0,-372.277:652:323:320:9299:9912 0/1:-123.65,0,-324.531:658:320:327:9482:9142 0/1:-303.969,0,-575.959:1216:553:625:18686:16019 . . . . . . . . . 0/1:-350.068,0,-754.392:1331:667:641:18624:19676 . . 0/1:-323.583,0,-539.649:1067:494:547:16142:14729 . . . 0/0:0,-262.394,-1651.81:1083:903:152:4625:28130:903,152 . 0/1:-198.366,0,-248.308:510:228:278:8649:7175:228,278 0/1:-254.047,0,-473.564:824:380:429:13201:11703:380,429 0/0:0,-259.738,-1623.97:1046:893:130:4040:27234:893,130 0/0:0,-247.983,-1588.68:956:873:65:1988:27247:873,65 . . 0/1:-213.867,0,-514.584:784:410:364:11509:12328:410,364 0/0:0,-259.648,-1687.68:1103:927:150:4681:28504:927,150 0/0:0,-173.712,-1162.35:698:615:74:2154:19395:615,74 0/0:0,-200.514,-1302.28:802:734:52:1477:22535:734,52 . 0/0:0,-262.527,-1658.62:1086:910:149:4607:28293:910,149 . 0/0:0,-272.387,-1748.67:1032:938:70:2189:29228:938,70 0/1:-324.694,0,-435.545:868:364:492:15628:11551:364,492 0/1:-273.508,0,-588.376:948:447:488:15324:14095:447,488 0/1:-264.845,0,-560.846:935:429:496:15352:13629:429,496 chr5 256509 . G A 2169.16 . AB=0.41958;ABP=67.2737;AC=24;AF=0.5;AN=48;AO=480;CIGAR=1X;DP=26151;DPB=1144;DPRA=0;EPP=59.7581;EPPR=215.815;GTI=0;LEN=1;MEANALT=3;MQM=15.7875;MQMR=17.2469;NS=1;NUMALT=1;ODDS=433.697;PAIRED=0.975;PAIREDR=0.972222;PAO=0;PQA=0;PQR=0;PRO=0;QA=13797;QR=19320;RO=648;RPL=181;RPP=66.0011;RPPR=51.2652;RPR=299;RUN=1;SAF=185;SAP=57.7495;SAR=295;SF=0,1;SRF=276;SRP=33.8935;SRR=372;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon14:c.G1825A:p.V609I,SDHA:NM_004168:exon15:c.G1969A:p.V657I;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.1964;esp6500siv2_ea=0.1299;esp6500siv2_all=0.1964;esp6500siv2_ea=0.1299;1000g2015aug_all=0.175319;avsnp147=rs6962;Kaviar_AF=0.126143;Kaviar_AC=19502;Kaviar_AN=154602;ExAC_ALL=0.1298;ExAC_AFR=0.3087;ExAC_AMR=0.1609;ExAC_EAS=0.0614;ExAC_FIN=0.0897;ExAC_NFE=0.1205;ExAC_OTH=0.1123;ExAC_SAS=0.0863;CLNALLELEID=135726;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.337;SIFT_pred=T;Polyphen2_HDIV_score=0.391;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.07;MutationAssessor_pred=L;FATHMM_score=-1.32;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.174;CADD_raw=0.913;CADD_phred=10.15;DANN_score=0.719;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.12;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.893;phastCons7way_vertebrate=0.727;phastCons20way_mammalian=0.257;SiPhy_29way_logOdds=13.859;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1307;gnomAD_exome_AFR=0.3243;gnomAD_exome_AMR=0.1677;gnomAD_exome_ASJ=0.1516;gnomAD_exome_EAS=0.0597;gnomAD_exome_FIN=0.0856;gnomAD_exome_NFE=0.1229;gnomAD_exome_OTH=0.1346;gnomAD_exome_SAS=0.0877;gnomAD_genome_ALL=0.1616;gnomAD_genome_AFR=0.3120;gnomAD_genome_AMR=0.1615;gnomAD_genome_ASJ=0.1556;gnomAD_genome_EAS=0.0489;gnomAD_genome_FIN=0.0810;gnomAD_genome_NFE=0.1084;gnomAD_genome_OTH=0.1202;Whole_Blood=Whole_Blood::0.139946::-0.311503;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-219.319,0,-538.172:1144:648:480:13797:19320 . 0/1:-239.743,0,-495.413:918:460:437:12900:14414 . . . . . 0/1:-243.792,0,-572.179:918:508:394:11569:15803 . . . . 0/1:-405.161,0,-1111.46:2019:1141:844:24453:35610 . . . 0/1:-278.567,0,-754.834:1275:697:556:16169:21407 . . . . . . . 0/1:-237.386,0,-461.114:779:436:331:9853:13665 . . . 0/1:-186.528,0,-693.83:1269:777:472:13591:23869 . . . . . . . . . . . . . . . . . . 0/1:-364.52,0,-703.232:1361:728:611:17669:22474 . . . . 0/1:-115.466,0,-411.119:678:399:271:7662:11992 . 0/1:-230.435,0,-635.595:1006:571:417:12158:17618 . . . . . 0/1:-233.962,0,-666.849:1155:651:479:13997:20431 . . . . 0/1:-303.771,0,-531.212:976:515:448:12991:15797 . . . . 0/1:-354.408,0,-645.651:1236:696:514:15274:21565 . . 0/1:-165.796,0,-446.353:753:424:314:9119:12853 0/1:-94.2039,0,-428.762:732:453:268:7485:14369 0/1:-247.866,0,-725.609:1350:810:507:14524:24876 . . . . . . . . . 0/1:-353.21,0,-916.842:1509:785:696:20376:24854 . . 0/1:-321.067,0,-683.629:1240:669:546:15784:20526 . . . . . 0/1:-143.123,0,-332.253:579:345:224:6890:10976:345,224 0/1:-239.635,0,-665.044:995:560:424:12947:17825:560,424 . . . . 0/1:-255.301,0,-618.403:921:481:425:13051:15075:481,425 . . . . . . . 0/1:-342.299,0,-587.871:1060:562:482:14831:18216:562,482 0/1:-260.644,0,-722.319:1115:652:437:13525:20772:652,437 0/1:-237.356,0,-762.125:1163:687:457:14217:22019:687,457 chr5 256519 . C G 2607.47 . AB=0.458472;ABP=12.028;AC=1;AF=0.5;AN=2;AO=276;CIGAR=1X;DP=602;DPB=602;DPRA=0;EPP=3.79707;EPPR=26.5583;GTI=0;LEN=1;MEANALT=3;MQM=21.0435;MQMR=16.1558;NS=1;NUMALT=1;ODDS=473.779;PAIRED=0.938406;PAIREDR=0.975078;PAO=0;PQA=0;PQR=0;PRO=0;QA=8680;QR=9937;RO=321;RPL=138;RPP=3.0103;RPPR=5.99354;RPR=138;RUN=1;SAF=111;SAP=25.9524;SAR=165;SF=1;SRF=117;SRP=54.2124;SRR=204;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon14:c.C1835G:p.A612G,SDHA:NM_004168:exon15:c.C1979G:p.A660G;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000998403;avsnp147=rs191412461;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=239848;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.156;SIFT_pred=T;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.25;MutationAssessor_pred=L;FATHMM_score=-1.42;FATHMM_pred=T;PROVEAN_score=-1.84;PROVEAN_pred=N;VEST3_score=0.671;CADD_raw=2.395;CADD_phred=18.79;DANN_score=0.992;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.125;MetaSVM_pred=T;MetaLR_score=0.451;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.12;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.799;phastCons7way_vertebrate=0.827;phastCons20way_mammalian=0.498;SiPhy_29way_logOdds=13.859;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-271.305,0,-221.863:602:321:276:8680:9937:321,276 . . . . . . . . . . . . . . . . chr5 37294473 . T C 6384.83 . AB=0.449635;ABP=18.1028;AC=82;AF=0.5;AN=136;AO=308;CIGAR=1X;DP=36581;DPB=685;DPRA=0;EPP=22.0741;EPPR=45.1035;GTI=0;LEN=1;MEANALT=3;MQM=38.1266;MQMR=37.8709;NS=1;NUMALT=1;ODDS=1227.34;PAIRED=0.896104;PAIREDR=0.873626;PAO=0;PQA=0;PQR=0;PRO=0;QA=9043;QR=11664;RO=364;RPL=205;RPP=76.3609;RPPR=179.496;RPR=103;RUN=1;SAF=175;SAP=15.4469;SAR=133;SF=0,1;SRF=182;SRP=3.0103;SRR=182;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon32:c.A3696G:p.L1232L,NUP155:NM_004298:exon33:c.A3711G:p.L1237L,NUP155:NM_153485:exon33:c.A3888G:p.L1296L;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.2426;esp6500siv2_ea=0.2929;esp6500siv2_all=0.2426;esp6500siv2_ea=0.2929;1000g2015aug_all=0.277157;avsnp147=rs1045908;Kaviar_AF=0.28281;Kaviar_AC=43723;Kaviar_AN=154602;ExAC_ALL=0.3079;ExAC_AFR=0.1459;ExAC_AMR=0.3169;ExAC_EAS=0.3948;ExAC_FIN=0.2355;ExAC_NFE=0.3075;ExAC_OTH=0.3057;ExAC_SAS=0.3831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1472;dpsi_zscore=0.610;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2941;gnomAD_exome_AFR=0.1328;gnomAD_exome_AMR=0.2906;gnomAD_exome_ASJ=0.3558;gnomAD_exome_EAS=0.3883;gnomAD_exome_FIN=0.2234;gnomAD_exome_NFE=0.2896;gnomAD_exome_OTH=0.3049;gnomAD_exome_SAS=0.3707;gnomAD_genome_ALL=0.2406;gnomAD_genome_AFR=0.1298;gnomAD_genome_AMR=0.2835;gnomAD_genome_ASJ=0.3609;gnomAD_genome_EAS=0.3792;gnomAD_genome_FIN=0.2209;gnomAD_genome_NFE=0.2895;gnomAD_genome_OTH=0.2474;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-552.181,0,-762.028:685:364:308:9043:11664 0/1:-423.135,0,-511.389:477:241:226:6783:7765 . 0/1:-685.589,0,-674.437:688:329:353:10716:10593 0/1:-529.865,0,-714.994:663:349:302:8768:11009 . 0/1:-476.521,0,-500.011:485:235:245:7485:7642 . . 0/1:-502.848,0,-676.892:602:319:278:8185:10100 0/1:-444.21,0,-576.552:519:273:238:7377:8574 0/1:-394.377,0,-550.96:489:262:221:6393:8257 0/1:-350.317,0,-768.587:581:362:213:6344:11154 0/1:-656.421,0,-988.143:824:459:362:10856:14629 . 0/1:-837.886,0,-1167.28:1019:550:461:13698:17625 . 0/1:-377.875,0,-541.923:474:255:212:6333:8141 0/1:-373.188,0,-583.277:491:277:209:6140:8866 . 1/1:-1001.06,-100.146,0:442:12:414:12182:358 0/1:-595.364,0,-762.161:688:358:326:9557:11557 0/1:-703.758,0,-724.644:735:357:371:11113:11212 . 0/1:-576.737,0,-550.474:602:281:316:9346:8763 0/1:-528.832,0,-795.827:702:386:306:8911:12172 0/1:-404.207,0,-532.355:490:261:223:6529:8273 0/1:-477.548,0,-444.057:449:210:235:7192:6889 1/1:-1238.76,-119.252,0:547:16:520:15581:480 1/1:-1788.32,-213.419,0:751:3:734:21838:95 . . 0/1:-601.103,0,-675.667:657:328:322:9624:10517 0/1:-575.765,0,-707.721:675:350:323:9543:10988 . . . 1/1:-964.615,-110.492,0:407:4:397:11755:144 . . 1/1:-1422.64,-159.415,0:600:7:582:17583:204 0/1:-522.406,0,-697.468:639:335:291:8707:10804 0/1:-898.565,0,-886.145:916:444:468:14009:13949 0/1:-498.648,0,-679.913:618:329:279:8320:10442 . . . . 0/1:-477.902,0,-633.583:581:304:268:7965:9742 0/1:-479.612,0,-807.443:679:380:291:8275:12074 0/1:-679.475,0,-797.871:755:390:357:10849:12291 . 0/1:-437.152,0,-519.442:502:248:243:6943:7906 0/1:-370.247,0,-502.1:453:243:204:6098:7586 . 0/1:-326.356,0,-410.13:391:197:191:5356:6313 . 1/1:-1401.79,-165.696,0:592:3:579:16953:108 0/1:-389.233,0,-542.839:480:254:221:6378:8226 . . 0/1:-365.9,0,-514.836:462:247:206:6234:7764 1/1:-1736.53,-205.057,0:722:4:706:21285:118 . 0/1:-420.934,0,-532.184:495:257:228:6825:8128 1/1:-1861.55,-210.531,0:790:10:764:22918:290 . 0/1:-641.143,0,-808.346:764:402:354:10566:12516 . . 1/1:-1882.43,-180.35,0:808:23:774:23187:737 . . 0/1:-536.179,0,-754.315:670:363:299:9082:11625 0/1:-574.112,0,-663.205:654:336:308:9264:10329 . . . 0/1:-665.703,0,-585.944:645:296:344:10251:9537 . . . . . 0/1:-511.527,0,-678.59:599:321:271:8386:10210 1/1:-1680.83,-178.965,0:713:11:689:20695:361 . . 0/1:-786.975,0,-1005.57:913:485:420:12544:15539 1/1:-1157.42,-128.287,0:477:4:463:14022:140 0/1:-722.959,0,-886.513:834:429:396:11972:13544 . 0/1:-521.575,0,-801.259:691:374:310:8971:12146 . 0/1:-224.662,0,-238.347:225:113:111:3513:3698:113,111 0/1:-151.182,0,-352.066:249:156:89:2814:5129:156,89 0/1:-275.697,0,-314.294:281:143:133:4310:4759:143,133 . 1/1:-522.312,-51.3942,0:220:5:211:6601:154:5,211 0/1:-302.276,0,-364.574:330:174:150:4762:5659:174,150 1/1:-584.769,-55.8188,0:240:5:231:7265:172:5,231 0/1:-279.293,0,-287.658:276:138:135:4376:4478:138,135 0/1:-268.505,0,-291.699:277:137:136:4297:4517:137,136 0/1:-219.794,0,-203.819:207:97:107:3408:3164:97,107 . . 0/1:-169.125,0,-261.85:224:124:100:2990:4043:124,100 0/1:-196.247,0,-266.32:234:127:102:3239:4027:127,102 . 1/1:-557.809,-65.0225,0:218:0:216:6843:0:0,216 0/1:-318.003,0,-319.221:310:149:159:4912:4930:149,159 0/1:-262.22,0,-288.319:273:140:130:4116:4441:140,130 0/1:-282.003,0,-210.924:255:108:142:4336:3430:108,142 0/1:-168.821,0,-189.002:177:88:86:2776:2887:88,86 chr5 37304962 . A T 11479.30 . AB=0.509418;ABP=3.91012;AC=1;AF=0.5;AN=2;AO=595;CIGAR=1X;DP=1168;DPB=1168;DPRA=0;EPP=5.67081;EPPR=26.8278;GTI=0;LEN=1;MEANALT=3;MQM=39.5076;MQMR=39.7873;NS=1;NUMALT=1;ODDS=2398.36;PAIRED=0.988235;PAIREDR=0.97891;PAO=0;PQA=0;PQR=0;PRO=0;QA=17570;QR=16385;RO=569;RPL=256;RPP=28.1519;RPPR=12.1732;RPR=339;RUN=1;SAF=295;SAP=3.10154;SAR=300;SF=0;SRF=264;SRP=9.42549;SRR=305;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs763457043;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.295e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.508e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3286;dpsi_zscore=0.931;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.068e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.98e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1158.94,0,-1053.72:1168:569:595:17570:16385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 37307389 . T C 3733.39 . AB=0.451163;ABP=16.3724;AC=8;AF=0.5;AN=16;AO=291;CIGAR=1X;DP=4612;DPB=645;DPRA=0;EPP=3.91321;EPPR=3.11956;GTI=0;LEN=1;MEANALT=3;MQM=30.6564;MQMR=32.2799;NS=1;NUMALT=1;ODDS=919.48;PAIRED=0.821306;PAIREDR=0.811321;PAO=0;PQA=0;PQR=0;PRO=0;QA=8015;QR=9555;RO=318;RPL=113;RPP=34.5377;RPPR=88.6674;RPR=178;RUN=1;SAF=159;SAP=8.45017;SAR=132;SF=0,1;SRF=172;SRP=7.62639;SRR=146;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0406;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0406;1000g2015aug_all=0.0589058;avsnp147=rs74646699;Kaviar_AF=0.0483823;Kaviar_AC=7480;Kaviar_AN=154602;ExAC_ALL=0.0499;ExAC_AFR=0.0689;ExAC_AMR=0.0212;ExAC_EAS=0.0358;ExAC_FIN=0.0652;ExAC_NFE=0.0429;ExAC_OTH=0.0529;ExAC_SAS=0.0874;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1242;dpsi_zscore=-0.518;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0489;gnomAD_exome_AFR=0.0699;gnomAD_exome_AMR=0.0208;gnomAD_exome_ASJ=0.0419;gnomAD_exome_EAS=0.0353;gnomAD_exome_FIN=0.0707;gnomAD_exome_NFE=0.0425;gnomAD_exome_OTH=0.0494;gnomAD_exome_SAS=0.0858;gnomAD_genome_ALL=0.0556;gnomAD_genome_AFR=0.0710;gnomAD_genome_AMR=0.0231;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0458;gnomAD_genome_FIN=0.0585;gnomAD_genome_NFE=0.0498;gnomAD_genome_OTH=0.0507;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-410.868,0,-538.615:645:318:291:8015:9555 . . . . 0/1:-373.07,0,-515.444:572:289:254:6891:8713 . . . . . . . . 0/1:-308.567,0,-388.106:519:246:234:6133:7293 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-386.839,0,-506.916:577:284:263:7383:8658 . . . . . . . . . . 0/1:-393.725,0,-576.023:668:336:293:7659:9872 . . . 0/1:-317.9,0,-470.081:532:271:223:6154:8188 . . . . . . . . . . . . . . . . . 0/1:-514.961,0,-484.399:540:258:268:8192:7854:258,268 . . . . . . . 0/1:-477.022,0,-495.612:559:270:260:7813:8027:270,260 . . . . . . . . . chr5 37309255 . T C 9280.58 . AB=0.49556;ABP=3.20315;AC=3;AF=0.5;AN=6;AO=558;CIGAR=1X;DP=2960;DPB=1126;DPRA=0;EPP=85.9621;EPPR=50.0978;GTI=0;LEN=1;MEANALT=3;MQM=39.3495;MQMR=39.7312;NS=1;NUMALT=1;ODDS=2410.84;PAIRED=0.94086;PAIREDR=0.948029;PAO=0;PQA=0;PQR=0;PRO=0;QA=17332;QR=17826;RO=558;RPL=110;RPP=447.594;RPPR=447.594;RPR=448;RUN=1;SAF=390;SAP=194.8;SAR=168;SF=0,1;SRF=364;SRP=115.475;SRR=194;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon23:c.A2551G:p.N851D,NUP155:NM_004298:exon24:c.A2566G:p.N856D,NUP155:NM_153485:exon24:c.A2743G:p.N915D;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs746312378;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.142e-05;ExAC_AFR=0;ExAC_AMR=8.688e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.03e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.622;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.04;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-0.99;FATHMM_pred=T;PROVEAN_score=-0.99;PROVEAN_pred=N;VEST3_score=0.077;CADD_raw=2.004;CADD_phred=16.24;DANN_score=0.984;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.901;MetaSVM_pred=T;MetaLR_score=0.280;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.55;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.056;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.498;GDI_full_10282015=.;dpsi_max_tissue=0.4135;dpsi_zscore=1.037;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.659e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.935e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.482e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.457e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.659e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1130.69,0,-1184.47:1126:558:558:17332:17826 . . . . . . . 0/1:-890.3,0,-977.351:907:458:437:13373:14629 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-976.958,0,-1035.88:927:464:460:14598:15171:464,460 . . . . . chr5 37309280 . T G 8970.01 . AB=0.427256;ABP=52.9262;AC=1;AF=0.5;AN=2;AO=464;CIGAR=1X;DP=1086;DPB=1086;DPRA=0;EPP=17.6865;EPPR=3.36396;GTI=0;LEN=1;MEANALT=3;MQM=40.5754;MQMR=39.3518;NS=1;NUMALT=1;ODDS=2065.42;PAIRED=0.935345;PAIREDR=0.923453;PAO=0;PQA=0;PQR=0;PRO=0;QA=14890;QR=19660;RO=614;RPL=83;RPP=418.604;RPPR=441.209;RPR=381;RUN=1;SAF=307;SAP=108.308;SAR=157;SF=1;SRF=391;SRP=102.827;SRR=223;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon23:c.A2526C:p.K842N,NUP155:NM_004298:exon24:c.A2541C:p.K847N,NUP155:NM_153485:exon24:c.A2718C:p.K906N;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.052;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-1.27;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_pred=N;VEST3_score=0.229;CADD_raw=3.784;CADD_phred=23.4;DANN_score=0.996;fathmm-MKL_coding_score=0.894;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.749;MetaSVM_pred=T;MetaLR_score=0.313;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.88;phyloP7way_vertebrate=0.037;phyloP20way_mammalian=0.140;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.055;GDI_full_10282015=.;dpsi_max_tissue=0.2278;dpsi_zscore=0.774;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-966.532,0,-1344.41:1086:614:464:14890:19660:614,464 . . . . . . . . . . . . chr5 37309371 . TAGAAGAGG TAGAGG 5863.63 . AB=0.355932;ABP=173.195;AC=81;AF=0.5;AN=136;AO=336;CIGAR=1M3D4M;DP=61771;DPB=849.875;DPRA=0;EPP=96.0734;EPPR=63.9499;GTI=0;LEN=3;MEANALT=67;MQM=39.2143;MQMR=41.1648;NS=1;NUMALT=1;ODDS=745.796;PAIRED=0.985119;PAIREDR=0.969231;PAO=8;PQA=232.5;PQR=1735.5;PRO=58;QA=7107;QR=13335;RO=455;RPL=252;RPP=185.414;RPPR=162.835;RPR=84;RUN=1;SAF=192;SAP=17.9004;SAR=144;SF=0,1;SRF=252;SRP=14.469;SRR=203;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.2399;esp6500siv2_ea=0.2911;esp6500siv2_all=0.2399;esp6500siv2_ea=0.2911;1000g2015aug_all=0.269169;avsnp147=rs3835198;Kaviar_AF=0.0083375;Kaviar_AC=1289;Kaviar_AN=154602;ExAC_ALL=0.2997;ExAC_AFR=0.1347;ExAC_AMR=0.3047;ExAC_EAS=0.3760;ExAC_FIN=0.2337;ExAC_NFE=0.3044;ExAC_OTH=0.2935;ExAC_SAS=0.3671;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2873;gnomAD_exome_AFR=0.1290;gnomAD_exome_AMR=0.2845;gnomAD_exome_ASJ=0.3516;gnomAD_exome_EAS=0.3671;gnomAD_exome_FIN=0.2203;gnomAD_exome_NFE=0.2847;gnomAD_exome_OTH=0.2978;gnomAD_exome_SAS=0.3581;gnomAD_genome_ALL=0.2378;gnomAD_genome_AFR=0.1282;gnomAD_genome_AMR=0.2847;gnomAD_genome_ASJ=0.3567;gnomAD_genome_EAS=0.3603;gnomAD_genome_FIN=0.2211;gnomAD_genome_NFE=0.2869;gnomAD_genome_OTH=0.2439;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:.,.,-1040.04:944:455:336:7107:13335 0/1:.,.,-687.225:683:321:244:5218:9353 . 0/1:.,.,-1101.08:1048:510:379:8319:14792 0/1:.,.,-744.448:863:363:328:7161:10514 . 0/1:.,.,-696.946:774:328:323:6853:9563 . . 0/1:.,.,-695.124:898:345:415:9197:9875 0/1:.,.,-922.445:830:413:276:5867:11983 0/1:.,.,-811.307:812:383:304:6702:11021 0/1:.,.,-759.519:787:358:292:6031:10497 0/1:.,.,-1299.9:1259:588:491:10703:17333 . 0/1:.,.,-1658.65:1741:751:744:16281:22076 . 0/1:.,.,-716.108:764:343:302:6081:9860 0/1:.,.,-667.323:710:314:271:5453:9075 . 1/1:.,.,0:629:10:505:10418:276 0/1:.,.,-1005.47:1032:473:395:8322:13702 0/1:.,.,-903.055:978:430:381:7982:12359 . 0/1:.,.,-851.028:863:401:333:6865:11643 0/1:.,.,-980.891:1051:458:397:8382:13256 0/1:.,.,-801.819:746:364:248:5219:10713 0/1:.,.,-578.24:644:262:275:5765:7767 0/1:.,.,-776.166:853:361:324:6978:10416 1/1:.,.,0:1162:7:972:20908:177 . . 0/1:.,.,-796.868:1003:400:443:9323:11419 0/1:.,.,-946.98:1085:468:468:9856:13539 . . . 1/1:.,.,0:561:2:464:9643:63 . . 1/1:.,.,0:775:12:632:13770:330 0/1:.,.,-903.728:987:441:389:8076:12777 0/1:.,.,-1060.78:1211:508:518:11173:14649 0/1:.,.,-806.769:992:396:439:9805:11490 . . . . 0/1:.,.,-1024.26:1096:489:429:9105:14141 0/1:.,.,-1057.2:1115:507:428:9138:14749 0/1:.,.,-1233.04:1219:570:478:10068:16946 . 0/1:.,.,-853.594:850:402:293:5929:11799 0/1:.,.,-814.529:777:376:275:5699:10955 . 0/1:.,.,-703.663:643:317:221:4662:9331 . 1/1:.,.,0:875:3:762:16232:68 0/1:.,.,-619.323:639:276:239:5139:8071 . . 0/1:.,.,-789.662:735:364:235:5051:10663 1/1:.,.,0:1037:8:876:18651:252 . 0/1:.,.,-659.804:710:314:259:5268:9183 1/1:.,.,0:857:6:698:14464:176 . 0/1:.,.,-833.783:924:396:348:7325:11431 . . 1/1:.,.,0:1066:27:896:20018:723 . . 0/1:.,.,-938.364:1014:444:403:8794:12813 0/1:.,.,-878.986:888:423:329:6908:12129 . . . 0/1:.,.,-853.887:1027:421:419:9141:12224 . . . . . 0/1:.,.,-744.38:787:338:311:6475:9996 1/1:.,.,0:1006:12:832:17668:353 . . 0/1:.,.,-1245.7:1315:580:506:11192:16669 1/1:.,.,0:720:13:590:12288:379 0/1:.,.,-1110:1216:529:494:10848:15353 . 0/1:.,.,-1070.28:1115:504:443:9571:14789 . 0/1:-418.388,0,-688.636:701:323:292:6823:9895:323,292 0/1:-654.492,0,-821.907:899:388:431:10228:12106:388,431 0/1:-504.64,0,-1029.5:921:472:357:8569:14629:472,357 . 1/1:-1247.59,-161.044,0:692:12:628:14446:375:12,628 0/1:-666.152,0,-1031.44:1046:482:451:10691:14878:482,451 1/1:-1567.35,-191.573,0:853:18:782:18304:551:18,782 0/1:-571.472,0,-933.501:950:431:411:9334:13464:431,411 0/1:-412.35,0,-966.479:841:432:310:7177:13491:432,310 0/1:-558.783,0,-776.051:810:359:368:8793:11263:359,368 . . 0/1:-491.018,0,-891.732:821:405:343:8104:12655:405,343 0/1:-478.249,0,-913.357:839:418:342:7998:12964:418,342 . 1/1:-1574.8,-199.963,0:849:12:761:18189:397:12,761 0/1:-599.434,0,-995.787:965:458:412:9737:14264:458,412 0/1:-464.262,0,-783.549:766:363:326:7592:11266:363,326 0/1:-569.718,0,-736.988:759:347:354:8830:10723:347,354 0/1:-401.139,0,-822.239:743:371:291:6797:11542:371,291 chr5 37318089 . C G 8181.38 . AB=0.481527;ABP=5.4171;AC=1;AF=0.5;AN=2;AO=391;CIGAR=1X;DP=812;DPB=812;DPRA=0;EPP=59.663;EPPR=44.0246;GTI=0;LEN=1;MEANALT=3;MQM=40.7903;MQMR=40.9195;NS=1;NUMALT=1;ODDS=1883.83;PAIRED=0.971867;PAIREDR=0.953659;PAO=0;PQA=0;PQR=0;PRO=0;QA=12436;QR=13156;RO=410;RPL=149;RPP=51.0437;RPPR=58.1127;RPR=242;RUN=1;SAF=230;SAP=29.4512;SAR=161;SF=1;SRF=243;SRP=33.6016;SRR=167;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=NUP155;GeneDetail.refGene=NM_153485:exon21:c.2305+1G>C,NM_004298:exon21:c.2128+1G>C,NM_001278312:exon21:c.2305+1G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=5.710;CADD_phred=26.8;DANN_score=0.995;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.299;integrated_confidence_value=0;GERP++_RS=5.41;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.798;phastCons7way_vertebrate=0.927;phastCons20way_mammalian=0.969;SiPhy_29way_logOdds=17.365;GDI_full_10282015=.;dpsi_max_tissue=-0.6849;dpsi_zscore=-1.257;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-837.85,0,-902.258:812:410:391:12436:13156:410,391 . . . . . . . . chr5 37333592 . C T 7978.91 . AB=0.488268;ABP=4.08027;AC=1;AF=0.5;AN=2;AO=437;CIGAR=1X;DP=895;DPB=895;DPRA=0;EPP=49.764;EPPR=94.5976;GTI=0;LEN=1;MEANALT=3;MQM=38.8719;MQMR=39.7708;NS=1;NUMALT=1;ODDS=1837.21;PAIRED=0.963387;PAIREDR=0.979775;PAO=0;PQA=0;PQR=0;PRO=0;QA=13095;QR=13998;RO=445;RPL=115;RPP=215.929;RPPR=149.055;RPR=322;RUN=1;SAF=222;SAP=3.25378;SAR=215;SF=0;SRF=239;SRP=8.32431;SRR=206;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon13:c.G1491A:p.P497P,NUP155:NM_004298:exon13:c.G1314A:p.P438P,NUP155:NM_153485:exon13:c.G1491A:p.P497P;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000399361;avsnp147=rs144527678;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0018;ExAC_OTH=0.0022;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.1353;dpsi_zscore=-2.369;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0053;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-832.575,0,-923.454:895:445:437:13095:13998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 37333727 . A G 5784.84 . AB=0.497619;ABP=3.03098;AC=44;AF=0.5;AN=82;AO=209;CIGAR=1X;DP=26727;DPB=420;DPRA=0;EPP=3.85188;EPPR=5.73528;GTI=0;LEN=1;MEANALT=3;MQM=39.9904;MQMR=40.8088;NS=1;NUMALT=1;ODDS=828.728;PAIRED=0.995215;PAIREDR=0.970588;PAO=0;PQA=0;PQR=0;PRO=0;QA=5903;QR=6417;RO=204;RPL=169;RPP=175.907;RPPR=89.2305;RPR=40;RUN=1;SAF=92;SAP=9.50394;SAR=117;SF=0,1;SRF=69;SRP=49.3776;SRR=135;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon13:c.T1356C:p.A452A,NUP155:NM_004298:exon13:c.T1179C:p.A393A,NUP155:NM_153485:exon13:c.T1356C:p.A452A;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.3536;esp6500siv2_ea=0.1599;esp6500siv2_all=0.3536;esp6500siv2_ea=0.1599;1000g2015aug_all=0.355032;avsnp147=rs150594;Kaviar_AF=0.221685;Kaviar_AC=34273;Kaviar_AN=154602;ExAC_ALL=0.2343;ExAC_AFR=0.7619;ExAC_AMR=0.2341;ExAC_EAS=0.1224;ExAC_FIN=0.2121;ExAC_NFE=0.1704;ExAC_OTH=0.2209;ExAC_SAS=0.2204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3496;dpsi_zscore=-0.922;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2175;gnomAD_exome_AFR=0.7664;gnomAD_exome_AMR=0.2306;gnomAD_exome_ASJ=0.1817;gnomAD_exome_EAS=0.1146;gnomAD_exome_FIN=0.2062;gnomAD_exome_NFE=0.1620;gnomAD_exome_OTH=0.1998;gnomAD_exome_SAS=0.2121;gnomAD_genome_ALL=0.3383;gnomAD_genome_AFR=0.7576;gnomAD_genome_AMR=0.2302;gnomAD_genome_ASJ=0.1788;gnomAD_genome_EAS=0.1225;gnomAD_genome_FIN=0.1943;gnomAD_genome_NFE=0.1693;gnomAD_genome_OTH=0.2082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-386.335,0,-433.065:420:204:209:5903:6417 . 0/1:-689.191,0,-880.336:816:428:372:10711:13219 0/1:-527.95,0,-609.466:589:299:277:8108:9190 . . 0/1:-642.112,0,-820.477:768:397:354:10033:12231 . . . . . . . . 0/1:-742.686,0,-766.16:809:385:405:11456:11635 0/1:-438.549,0,-652.043:564:300:252:6985:9555 . . . . . 0/1:-387.195,0,-725.554:581:344:222:6511:10425 . 0/1:-526.932,0,-882.699:716:410:296:8561:12796 . 0/1:-419.808,0,-579.838:520:272:240:6706:8371 . . 0/1:-569.993,0,-850.673:726:401:313:9120:12430 . . . 0/1:-849.67,0,-857.506:900:426:453:12923:13162 0/1:-748.591,0,-758.914:812:381:409:11504:11688 0/1:-584.979,0,-719.681:672:337:319:9024:10635 . 0/1:-718.657,0,-948.338:843:442:382:11138:13917 0/1:-474.385,0,-632.043:577:304:255:7466:9309 . . . . . . 0/1:-491.282,0,-646.864:594:313:272:7804:9649 . 0/1:-600.23,0,-813.604:724:382:331:9348:11844 . . 0/1:-540.498,0,-769.517:681:366:306:8665:11296 . . 1/1:-1738.9,-194.39,0:758:11:725:20441:318 0/1:-377.592,0,-492.728:461:241:211:6002:7322 . . . . 1/1:-1319.3,-142.374,0:554:8:529:15515:227 . . 1/1:-1569.97,-156.843,0:688:19:650:18727:512 . . 0/1:-415.169,0,-613.906:524:295:222:6631:9114 . 0/1:-490.046,0,-752.193:662:354:290:8016:11080 . . . . 0/1:-568.996,0,-973.348:796:452:328:9367:13983 0/1:-642.486,0,-806.617:751:387:346:9944:11985 . 0/1:-413.807,0,-556.275:514:270:233:6618:8269 0/1:-372.315,0,-648.119:541:305:222:6203:9355 0/1:-600.828,0,-802.693:711:382:316:9454:11876 0/1:-777.274,0,-872.764:866:430:420:12000:13201 . 0/1:-604.492,0,-601.001:621:300:311:9131:9147 0/1:-636.448,0,-587.947:653:294:346:9789:9064 0/1:-591.055,0,-600.635:604:285:306:8864:8978 . . 0/1:-280.831,0,-524.934:422:249:171:4797:7682 0/1:-558.239,0,-730.749:671:348:308:8886:10832 0/1:-821.737,0,-1224.31:1067:584:460:13105:18081 . . . . . . . 0/1:-561.051,0,-713.714:605:324:272:8518:10301:324,272 0/1:-289.67,0,-387.688:317:170:141:4450:5525:170,141 . . . . . . 0/1:-554.214,0,-649.906:572:297:271:8369:9505:297,271 0/1:-411.736,0,-536.592:453:245:201:6319:7809:245,201 . . 0/1:-606.722,0,-642.315:604:295:295:9091:9413:295,295 . . . . . chr5 37337900 . G A 6965.05 . AB=0.480103;ABP=5.6891;AC=1;AF=0.5;AN=2;AO=374;CIGAR=1X;DP=779;DPB=779;DPRA=0;EPP=4.14829;EPPR=7.30938;GTI=0;LEN=1;MEANALT=2;MQM=39.8048;MQMR=40.7904;NS=1;NUMALT=1;ODDS=1603.76;PAIRED=0.97861;PAIREDR=0.977273;PAO=0;PQA=0;PQR=0;PRO=0;QA=11048;QR=12479;RO=396;RPL=116;RPP=120.084;RPPR=62.32;RPR=258;RUN=1;SAF=218;SAP=25.3289;SAR=156;SF=0;SRF=238;SRP=38.1048;SRR=158;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0027;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0027;1000g2015aug_all=0.000599042;avsnp147=rs199687660;Kaviar_AF=0.0019405;Kaviar_AC=300;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0004;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0027;ExAC_OTH=0.0011;ExAC_SAS=0.0015;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0076;dpsi_zscore=-0.021;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0032;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-718.66,0,-851.768:779:396:374:11048:12479 . . . . . . . . . . . . . . . . . . . . . . . . . chr5 37341352 . T C 12485.64 . AB=0.488667;ABP=4.24074;AC=56;AF=0.5;AN=96;AO=539;CIGAR=1X;DP=55521;DPB=1103;DPRA=0;EPP=3.01433;EPPR=8.5256;GTI=0;LEN=1;MEANALT=3;MQM=38.2635;MQMR=38.6902;NS=1;NUMALT=1;ODDS=2149.64;PAIRED=0.949907;PAIREDR=0.942486;PAO=0;PQA=0;PQR=0;PRO=0;QA=14888;QR=16676;RO=539;RPL=234;RPP=23.319;RPPR=120.814;RPR=305;RUN=1;SAF=250;SAP=9.13796;SAR=289;SF=0,1;SRF=244;SRP=13.489;SRR=295;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.1615;esp6500siv2_ea=0.2115;esp6500siv2_all=0.1615;esp6500siv2_ea=0.2115;1000g2015aug_all=0.188698;avsnp147=rs13172306;Kaviar_AF=0.203574;Kaviar_AC=31473;Kaviar_AN=154602;ExAC_ALL=0.2075;ExAC_AFR=0.0570;ExAC_AMR=0.2023;ExAC_EAS=0.3149;ExAC_FIN=0.2004;ExAC_NFE=0.2136;ExAC_OTH=0.2296;ExAC_SAS=0.2275;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4337;dpsi_zscore=1.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2108;gnomAD_exome_AFR=0.0562;gnomAD_exome_AMR=0.2009;gnomAD_exome_ASJ=0.2489;gnomAD_exome_EAS=0.3196;gnomAD_exome_FIN=0.1941;gnomAD_exome_NFE=0.2132;gnomAD_exome_OTH=0.2212;gnomAD_exome_SAS=0.2267;gnomAD_genome_ALL=0.1714;gnomAD_genome_AFR=0.0571;gnomAD_genome_AMR=0.2081;gnomAD_genome_ASJ=0.2483;gnomAD_genome_EAS=0.3096;gnomAD_genome_FIN=0.1896;gnomAD_genome_NFE=0.2138;gnomAD_genome_OTH=0.1949;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-944.229,0,-1070.22:1103:539:539:14888:16676 . . 0/1:-1300.26,0,-1586.34:1554:779:743:20525:24227 0/1:-846.654,0,-1057.88:1001:511:471:13574:15966 . 0/1:-873.639,0,-1080.43:1037:521:484:13707:16226 . . 0/1:-870.501,0,-1198.02:1081:568:495:14007:17882 0/1:-773.711,0,-1197.81:1035:555:453:12640:17559 . 0/1:-728.457,0,-1020.68:935:492:421:11891:15213 . . 0/1:-1918.04,0,-2469.93:2306:1200:1065:30330:37229 . 0/1:-791.016,0,-845.18:896:434:443:12476:13317 0/1:-706.122,0,-912.967:877:447:413:11369:13824 . 1/1:-1579.9,-180.266,0:720:13:681:19016:375 . . . . 0/1:-933.823,0,-1514.51:1269:701:549:15299:22209 0/1:-711.014,0,-919.645:895:468:409:11516:14251 0/1:-695.929,0,-869.826:822:416:390:10984:13082 . 1/1:-2848.42,-332.181,0:1251:14:1204:33984:399 . . 0/1:-1027.49,0,-1235.89:1207:613:571:16171:18876 . . . . 1/1:-1995.35,-213.064,0:888:17:843:24296:529 . . 0/1:-1002.48,0,-1200.47:1170:591:556:15729:18281 0/1:-1026.38,0,-1047.38:1122:527:574:15977:16516 0/1:-1275.02,0,-1375.48:1385:671:674:19527:20911 0/1:-1101.69,0,-1290.19:1287:646:609:17370:19653 . . . . 0/1:-1126.99,0,-1327.07:1273:637:610:17431:19924 0/1:-1059.55,0,-1245.87:1260:616:613:16905:19230 0/1:-1218.08,0,-1373.46:1378:680:667:19071:20814 . 0/1:-739.478,0,-993.633:965:498:446:12412:15351 0/1:-698.264,0,-931.295:841:443:382:11057:13874 . . . 1/1:-2706.59,-277.128,0:1226:33:1163:33102:973 . . . 0/1:-662.088,0,-1015.89:913:488:400:11038:15222 1/1:-3301.94,-363.408,0:1437:21:1379:39424:673 . 0/1:-708.245,0,-761.187:806:382:405:11256:11859 . . . . . . . . 0/1:-1292.22,0,-1391.19:1452:709:711:20246:21660 . . . . 0/1:-1100.74,0,-1296.42:1284:642:620:17574:19667 . . . . . 0/1:-729.458,0,-915.923:884:458:411:11705:14245 1/1:-3177.12,-351.599,0:1428:29:1365:38412:813 . . 0/1:-1203.54,0,-1757.08:1547:826:686:19458:25930 1/1:-2301.91,-262.9,0:1041:19:989:27733:466 0/1:-1220.93,0,-1458.03:1378:684:668:19228:21645 . 0/1:-1117.04,0,-1416:1362:707:630:17762:21658 . . 0/1:-1074.1,0,-1185.67:1121:559:540:16243:17555:559,540 0/1:-1097.61,0,-1297.94:1158:595:546:16587:18940:595,546 . 0/1:-897.736,0,-1200.33:1028:557:454:13788:17380:557,454 0/1:-1151.42,0,-1283.33:1197:616:569:17563:18966:616,569 1/1:-2703.81,-279.005,0:1065:14:1037:31672:435:14,1037 0/1:-1134.69,0,-1413.55:1222:656:552:17212:20544:656,552 . . . . . 0/1:-1077.22,0,-1201:1111:557:539:16203:17661:557,539 . . 0/1:-1279.15,0,-1250.59:1235:599:624:19085:18662:599,624 . 0/1:-1006.88,0,-987.906:973:476:481:14825:14836:476,481 0/1:-896.904,0,-1304.3:1095:607:469:14117:18911:607,469 chr5 37342755 . G C 7921.97 . AB=0.441098;ABP=37.0326;AC=1;AF=0.5;AN=2;AO=498;CIGAR=1X;DP=1129;DPB=1129;DPRA=0;EPP=271.192;EPPR=297.249;GTI=0;LEN=1;MEANALT=3;MQM=38.1687;MQMR=39.4396;NS=1;NUMALT=1;ODDS=1824.1;PAIRED=0.967871;PAIREDR=0.956044;PAO=0;PQA=0;PQR=0;PRO=0;QA=13461;QR=15412;RO=546;RPL=258;RPP=4.42307;RPPR=4.02843;RPR=240;RUN=1;SAF=255;SAP=3.6382;SAR=243;SF=0;SRF=302;SRP=16.3891;SRR=244;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs374547686;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1007;dpsi_zscore=-0.451;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.962e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-828.82,0,-1002.08:1129:546:498:13461:15412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 37348573 . C A 7771.89 . AB=0.450787;ABP=24.3831;AC=1;AF=0.5;AN=2;AO=458;CIGAR=1X;DP=1016;DPB=1016;DPRA=0;EPP=21.2355;EPPR=60.2941;GTI=0;LEN=1;MEANALT=3;MQM=39.0786;MQMR=40.1279;NS=1;NUMALT=1;ODDS=1789.54;PAIRED=0.969432;PAIREDR=0.971171;PAO=0;PQA=0;PQR=0;PRO=0;QA=13019;QR=17061;RO=555;RPL=176;RPP=56.2825;RPPR=68.1193;RPR=282;RUN=1;SAF=316;SAP=146.555;SAR=142;SF=0;SRF=376;SRP=154.853;SRR=179;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0002;1000g2015aug_all=0.0127796;avsnp147=rs114983068;Kaviar_AF=0.0028784;Kaviar_AC=445;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0318;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0305;dpsi_zscore=-0.167;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0322;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=9.747e-05;gnomAD_genome_ALL=0.0079;gnomAD_genome_AFR=0.0276;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-808.97,0,-1160.93:1016:555:458:13019:17061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 37349359 . ACAAAAAAAAAAAAGAGAAAAAAGTAAACC AAAAAAAAAAAAAAGAGAAAAAAGTAAACC,ACAAAAAAAAAAAGAGAAAAAAGTAAACC 57.26 . AB=0.0762943,0.0681199;ABP=575.291,597.585;AC=2,8;AF=0.5,0;AN=20;AO=28,25;CIGAR=2M1D27M,1M1X28M;DP=3823;DPB=372.2;DPRA=0,0;EPP=18.2106,7.26639;EPPR=12.6613;GTI=0;LEN=1,1;MEANALT=160,160;MQM=36.9286,30.6;MQMR=36.1667;NS=1;NUMALT=2;ODDS=9.98381;PAIRED=0.928571,0.76;PAIREDR=0.922222;PAO=3.83333,8.33333;PQA=98,192;PQR=286;PRO=11.8333;QA=642,431;QR=2782;RO=90;RPL=15,9;RPP=3.32051,7.26639;RPPR=7.73928;RPR=13,16;RUN=1,1;SAF=14,0;SAP=3.0103,57.2971;SAR=14,25;SF=1;SRF=29;SRP=27.7168;SRR=61;TYPE=del,snp;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs75411551;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0014;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2014;dpsi_zscore=1.635;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0075;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0036;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0.0120;gnomAD_exome_FIN=0.0275;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0028;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0178;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0021;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.1125;esp6500siv2_ea=0.1114;esp6500siv2_all=0.1125;esp6500siv2_ea=0.1114;1000g2015aug_all=.;avsnp147=rs550342158;Kaviar_AF=0.0240165;Kaviar_AC=3713;Kaviar_AN=154602;ExAC_ALL=0.3499;ExAC_AFR=0.2602;ExAC_AMR=0.2806;ExAC_EAS=0.2982;ExAC_FIN=0.1071;ExAC_NFE=0.3432;ExAC_OTH=0.2963;ExAC_SAS=0.3837;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3388;gnomAD_exome_AFR=0.2787;gnomAD_exome_AMR=0.3372;gnomAD_exome_ASJ=0.3820;gnomAD_exome_EAS=0.3273;gnomAD_exome_FIN=0.2848;gnomAD_exome_NFE=0.3448;gnomAD_exome_OTH=0.3439;gnomAD_exome_SAS=0.3729;gnomAD_genome_ALL=0.0088;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0199;gnomAD_genome_ASJ=0.0281;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0909;gnomAD_genome_NFE=0.0071;gnomAD_genome_OTH=0.0085;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-10.2075,-8.84457,-203.119,0,-172.946,-195.378:367:90:25,28:431,642:2782:90,28,25 0/2:-26.4689,.,.,0,.,-263.495:447:119:.,39:.,993:3687:119,39 . . . . 0/2:-15.7155,-18.2486,-236.216,0,-197.577,-220.629:442:106:32,27:479,717:3275:106,27,32 0/2:-19.6234,.,.,0,.,-238.966:422:114:.,40:.,868:3530:114,40 0/2:-33.1702,.,.,0,.,-155.012:300:78:.,38:.,848:2423:78,38 0/2:-24.9624,.,.,0,.,-225.267:428:110:.,34:.,879:3384:110,34 . 0/1:-4.27763,0,-205.155,-4.43145,-185.661,-213.415:360:97:25,22:442,532:3061:97,22,25 0/2:-17.7382,.,.,0,.,-211.557:394:101:.,36:.,812:3134:101,36 . . . 0/1:-5.14373,0,-244.011,.,.,.:411:107:23,.:447,.:3360:107,23 . 0/2:-13.2103,.,.,0,.,-153.86:252:68:.,19:.,479:2128:68,19 chr5 37349360 . CAAAAAAAAAAAAGAGAAAAAAGTAAACC AAAAAAAAAAAAAGAGAAAAAAGTAAACC,CAAAAAAAAAAAGAGAAAAAAGTAAACC 72.92 . AB=0.0707965,0.0678466;ABP=545.436,552.918;AC=2,4;AF=0.5,0;AN=12;AO=24,23;CIGAR=1M1D27M,1X28M;DP=2311;DPB=340.793;DPRA=0,0;EPP=16.0391,5.3706;EPPR=13.0905;GTI=0;LEN=1,1;MEANALT=135,135;MQM=37.7083,27.8696;MQMR=36.3789;NS=1;NUMALT=2;ODDS=10.2425;PAIRED=0.958333,0.826087;PAIREDR=0.873684;PAO=2,7;PQA=36.5,130;PQR=120.5;PRO=6;QA=602,354;QR=3035;RO=95;RPL=7,9;RPP=12.0581,5.3706;RPPR=3.58174;RPR=17,14;RUN=1,1;SAF=9,0;SAP=6.26751,52.9542;SAR=15,23;SF=1;SRF=20;SRP=72.1546;SRR=75;TYPE=del,snp;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs75411551;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0014;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2014;dpsi_zscore=1.635;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0075;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0036;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0.0120;gnomAD_exome_FIN=0.0275;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0028;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0178;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0021;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.1125;esp6500siv2_ea=0.1114;esp6500siv2_all=0.1125;esp6500siv2_ea=0.1114;1000g2015aug_all=.;avsnp147=rs550342158;Kaviar_AF=0.0240165;Kaviar_AC=3713;Kaviar_AN=154602;ExAC_ALL=0.3499;ExAC_AFR=0.2602;ExAC_AMR=0.2806;ExAC_EAS=0.2982;ExAC_FIN=0.1071;ExAC_NFE=0.3432;ExAC_OTH=0.2963;ExAC_SAS=0.3837;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3388;gnomAD_exome_AFR=0.2787;gnomAD_exome_AMR=0.3372;gnomAD_exome_ASJ=0.3820;gnomAD_exome_EAS=0.3273;gnomAD_exome_FIN=0.2848;gnomAD_exome_NFE=0.3448;gnomAD_exome_OTH=0.3439;gnomAD_exome_SAS=0.3729;gnomAD_genome_ALL=0.0088;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0199;gnomAD_genome_ASJ=0.0281;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0909;gnomAD_genome_NFE=0.0071;gnomAD_genome_OTH=0.0085;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-13.3244,-13.2632,-220.959,0,-187.181,-209.816:339:95:23,24:354,602:3035:95,24,23 . 0/2:-28.4478,.,.,0,.,-236.776:396:111:.,39:.,950:3486:111,39 . . . . 0/1:-10.582,0,-211.713,-1.4192,-184.203,-217.056:325:95:25,28:442,625:2991:95,28,25 . . 0/2:-10.7315,-0.216084,-188.962,0,-158.667,-189.348:357:89:23,25:449,537:2762:89,25,23 0/1:-24.2131,0,-237.363,.,.,.:433:113:38,.:632,.:3561:113,38 0/2:-41.4709,.,.,0,.,-259.409:461:123:.,47:.,1181:3857:123,47 . . . chr5 37350390 . C A 6275.36 . AB=0.490868;ABP=3.32759;AC=43;AF=0.5;AN=80;AO=215;CIGAR=1X;DP=23465;DPB=438;DPRA=0;EPP=5.28277;EPPR=3.25374;GTI=0;LEN=1;MEANALT=1;MQM=40.2698;MQMR=40.6906;NS=1;NUMALT=1;ODDS=941.437;PAIRED=0.981395;PAIREDR=0.982063;PAO=0;PQA=0;PQR=0;PRO=0;QA=6460;QR=6731;RO=223;RPL=141;RPP=48.3486;RPPR=11.1996;RPR=74;RUN=1;SAF=68;SAP=66.0436;SAR=147;SF=0,1;SRF=88;SRP=24.5205;SRR=135;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.3394;esp6500siv2_ea=0.1597;esp6500siv2_all=0.3394;esp6500siv2_ea=0.1597;1000g2015aug_all=0.33766;avsnp147=rs217776;Kaviar_AF=0.215948;Kaviar_AC=33386;Kaviar_AN=154602;ExAC_ALL=0.2260;ExAC_AFR=0.7123;ExAC_AMR=0.2291;ExAC_EAS=0.1226;ExAC_FIN=0.2104;ExAC_NFE=0.1666;ExAC_OTH=0.2127;ExAC_SAS=0.2161;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2278;dpsi_zscore=-0.738;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2139;gnomAD_exome_AFR=0.7171;gnomAD_exome_AMR=0.2277;gnomAD_exome_ASJ=0.1814;gnomAD_exome_EAS=0.1147;gnomAD_exome_FIN=0.2063;gnomAD_exome_NFE=0.1619;gnomAD_exome_OTH=0.1969;gnomAD_exome_SAS=0.2113;gnomAD_genome_ALL=0.3266;gnomAD_genome_AFR=0.7145;gnomAD_genome_AMR=0.2261;gnomAD_genome_ASJ=0.1755;gnomAD_genome_EAS=0.1227;gnomAD_genome_FIN=0.1951;gnomAD_genome_NFE=0.1696;gnomAD_genome_OTH=0.2088;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-427.343,0,-456.305:438:223:215:6460:6731 . 0/1:-686.945,0,-668.286:685:338:346:10539:10099 . . . 0/1:-775.167,0,-830.398:779:398:377:11669:12305 . . . . . . . . 0/1:-676.973,0,-692.343:669:339:326:10203:10317 0/1:-501.405,0,-388.592:448:198:247:7402:6026 . . . . . 0/1:-580.872,0,-475.363:539:244:293:8740:7542 . 0/1:-613.863,0,-795.805:705:381:323:9604:11761 . 0/1:-556.064,0,-475.147:503:240:260:8176:7268 . . 0/1:-688.023,0,-603.229:645:302:341:10261:9236 . . . 0/1:-783.009,0,-913.033:834:440:392:11895:13438 0/1:-847.019,0,-836.063:835:417:415:12740:12557 0/1:-605.044,0,-601.58:584:290:291:9069:9078 . 0/1:-604.876,0,-841.774:731:404:324:9538:12241 0/1:-486.847,0,-572.797:524:279:244:7420:8526 . . . . . . 0/1:-716.134,0,-591.227:641:293:346:10523:9231 . 0/1:-643.828,0,-679.938:655:332:323:9766:10075 . . 0/1:-544.363,0,-567.788:536:271:264:8138:8494 . . 1/1:-1630.34,-152.201,0:643:15:627:19284:477 0/1:-483.301,0,-367.654:416:186:228:7112:5702 . . . . 1/1:-1197.37,-127.416,0:469:7:461:13969:155 . . 1/1:-1461.05,-141.372,0:575:13:561:17263:376 . . 0/1:-516.358,0,-485.601:507:244:255:7767:7491 . 0/1:-582.764,0,-633.562:611:313:295:8960:9486 . . . . 0/1:-719.039,0,-768.712:742:376:363:10911:11449 0/1:-741.462,0,-620.809:679:314:363:11003:9682 . 0/1:-487.636,0,-486.915:477:235:242:7321:7339 0/1:-459.624,0,-352.458:404:181:222:6780:5457 0/1:-614.95,0,-633.918:618:313:303:9397:9429 0/1:-822.095,0,-629.899:709:320:387:11923:9808 . 0/1:-628.153,0,-667.688:641:322:316:9565:9924 0/1:-562.229,0,-568.654:568:279:285:8525:8550 0/1:-541.314,0,-508.561:508:245:260:7996:7590 . . 0/1:-317.569,0,-450.317:378:215:161:4992:6537 0/1:-827.106,0,-714.136:749:352:397:12147:10904 0/1:-867.845,0,-855.031:857:417:438:13191:12972 . . . . . . . 0/1:-507.804,0,-681.055:562:313:245:7759:9777:313,245 0/1:-236.479,0,-232.364:218:105:111:3483:3389:105,111 . . . . . . 0/1:-657.766,0,-600.229:569:279:290:9528:8915:279,290 0/1:-394.218,0,-487.085:402:214:188:5975:7030:214,188 . . 0/1:-484.833,0,-404.058:412:194:216:7024:6100:194,216 . . . . . chr5 37352816 . C T 9096.72 . AB=0.523388;ABP=6.76851;AC=1;AF=0.5;AN=2;AO=414;CIGAR=1X;DP=791;DPB=791;DPRA=0;EPP=30.2009;EPPR=19.0531;GTI=0;LEN=1;MEANALT=3;MQM=40.6208;MQMR=40.9126;NS=1;NUMALT=1;ODDS=1747.41;PAIRED=0.987923;PAIREDR=0.95082;PAO=0;PQA=0;PQR=0;PRO=0;QA=13351;QR=11545;RO=366;RPL=182;RPP=16.1231;RPPR=3.03403;RPR=232;RUN=1;SAF=203;SAP=3.34599;SAR=211;SF=1;SRF=209;SRP=19.0531;SRR=157;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000798722;avsnp147=rs115828387;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0016;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.408e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1024;dpsi_zscore=0.491;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-922.148,0,-770.431:791:366:414:13351:11545:366,414 . . . . . . . . . . . . . . . . . . chr5 37352829 . G A 8444.52 . AB=0.554762;ABP=24.8905;AC=2;AF=0.5;AN=4;AO=466;CIGAR=1X;DP=1777;DPB=840;DPRA=0;EPP=45.9551;EPPR=7.79242;GTI=0;LEN=1;MEANALT=3;MQM=39.4249;MQMR=39.9719;NS=1;NUMALT=1;ODDS=1498.86;PAIRED=0.933476;PAIREDR=0.977528;PAO=0;PQA=0;PQR=0;PRO=0;QA=13182;QR=10582;RO=356;RPL=255;RPP=12.0317;RPPR=3.0347;RPR=211;RUN=1;SAF=196;SAP=28.5274;SAR=270;SF=0;SRF=149;SRP=23.5295;SRR=207;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.0717;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0717;esp6500siv2_ea=0.0041;1000g2015aug_all=0.0656949;avsnp147=rs77520181;Kaviar_AF=0.021882;Kaviar_AC=3383;Kaviar_AN=154602;ExAC_ALL=0.0230;ExAC_AFR=0.2135;ExAC_AMR=0.0120;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0038;ExAC_OTH=0.0135;ExAC_SAS=0.0091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0211;dpsi_zscore=0.142;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0183;gnomAD_exome_AFR=0.2146;gnomAD_exome_AMR=0.0116;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=8.97e-05;gnomAD_exome_NFE=0.0043;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0087;gnomAD_genome_ALL=0.0622;gnomAD_genome_AFR=0.2126;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0034;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-883.853,0,-664.362:840:356:466:13182:10582 . . 0/1:-837.31,0,-959.9:937:474:444:12837:14466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 37364443 . C T 27430.23 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=971;CIGAR=1X;DP=123391;DPB=986;DPRA=0;EPP=30.5641;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=38.3646;MQMR=0;NS=1;NUMALT=1;ODDS=1349.09;PAIRED=0.964985;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=29612;QR=0;RO=0;RPL=541;RPP=30.5641;RPPR=0;RPR=430;RUN=1;SAF=467;SAP=6.07183;SAR=504;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L\x3bNUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.9663;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9663;esp6500siv2_ea=0.9999;1000g2015aug_all=0.969649;avsnp147=rs217852;Kaviar_AF=0.947614;Kaviar_AC=146503;Kaviar_AN=154602;ExAC_ALL=0.9905;ExAC_AFR=0.8955;ExAC_AMR=0.9950;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9967;ExAC_SAS=0.9999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.9824;dpsi_zscore=1.962;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9927;gnomAD_exome_AFR=0.8951;gnomAD_exome_AMR=0.9950;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9987;gnomAD_exome_SAS=0.9996;gnomAD_genome_ALL=0.9711;gnomAD_genome_AFR=0.9000;gnomAD_genome_AMR=0.9869;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9908;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2485.01,-292.3,0:986:0:971:29612:0 1/1:-3231.64,-372.675,0:1260:0:1238:38161:0 1/1:-2836.41,-330.531,0:1113:0:1098:33815:0 1/1:-1844.52,-214.634,0:719:0:713:21785:0 1/1:-2996.32,-345.528,0:1169:1:1151:35404:14 1/1:-3189.04,-372.073,0:1263:0:1236:37730:0 1/1:-2397.44,-283.871,0:968:0:943:28724:0 1/1:-2634.21,-304.546,0:1050:2:1016:31066:28 1/1:-2233.27,-259.187,0:880:0:861:26141:0 1/1:-2910.14,-335.055,0:1152:2:1131:34500:68 1/1:-2604.39,-305.491,0:1035:1:1018:31097:14 1/1:-2896.51,-329.929,0:1122:0:1096:33794:0 1/1:-2546.07,-297.361,0:1005:1:991:30220:14 1/1:-2383.77,-281.764,0:945:0:936:28501:0 1/1:-2367.31,-274.393,0:935:1:920:28094:32 1/1:-3755.42,-432.279,0:1452:0:1436:44307:0 1/1:-1975.03,-234.048,0:807:1:787:23628:36 1/1:-5208.45,-597.545,0:2012:0:1985:61176:0 1/1:-2947.6,-339.863,0:1150:0:1129:34692:0 1/1:-2049.27,-245.339,0:830:0:815:24355:0 1/1:-2404.09,-282.366,0:952:0:938:28621:0 1/1:-3112.26,-356.42,0:1198:0:1184:36660:0 1/1:-1851.21,-216.385,0:735:1:722:22081:14 1/1:-3098.64,-360.634,0:1216:0:1198:36610:0 1/1:-2857.18,-338.057,0:1146:0:1123:33678:0 1/1:-2001.7,-240.222,0:813:0:798:23943:0 1/1:-2362.18,-281.162,0:951:0:934:28200:0 1/1:-2857.77,-330.834,0:1134:2:1117:34146:68 1/1:-1962.57,-232.825,0:802:2:786:23260:50 1/1:-2105.88,-247.447,0:830:0:822:24893:0 1/1:-2529.03,-286.116,0:971:1:960:29691:36 1/1:-3632.23,-419.335,0:1413:0:1393:42734:0 1/1:-3050.61,-362.741,0:1228:0:1205:36152:0 1/1:-2947.33,-342.572,0:1161:0:1138:34874:0 1/1:-2853.27,-328.269,0:1118:1:1100:33737:36 1/1:-3085.13,-360.775,0:1230:2:1208:36527:46 1/1:-3671.83,-421.141,0:1419:0:1399:43176:0 1/1:-3190.83,-373.578,0:1261:0:1241:37730:0 1/1:-2398.33,-281.354,0:949:1:936:28296:27 1/1:-2116.77,-242.931,0:816:0:807:24732:0 1/1:-3283.52,-375.384,0:1264:0:1247:38562:0 1/1:-2594.97,-308.556,0:1048:0:1025:31114:0 1/1:-2585.36,-297.719,0:1007:0:989:30499:0 1/1:-2752.02,-318.791,0:1077:0:1059:32501:0 1/1:-3416.96,-395.252,0:1335:0:1313:40222:0 1/1:-2902.56,-334.379,0:1141:2:1117:34389:28 1/1:-2753.5,-321.199,0:1085:0:1067:32602:0 1/1:-1471.93,-173.995,0:584:0:578:17323:0 1/1:-2684.62,-310.663,0:1044:0:1032:31730:0 1/1:-3141.15,-362.987,0:1230:1:1209:37003:14 1/1:-3080.47,-363.624,0:1231:1:1211:36707:14 1/1:-2578.33,-310.663,0:1066:0:1032:30781:0 1/1:-3546.12,-415.421,0:1403:0:1380:41894:0 1/1:-2937.95,-341.368,0:1161:0:1134:34727:0 1/1:-1996.17,-236.155,0:814:1:794:23904:36 1/1:-2192.06,-250.654,0:853:2:839:25835:28 1/1:-2811.4,-329.327,0:1113:0:1094:33278:0 1/1:-1584.43,-186.94,0:632:0:621:18873:0 1/1:-2075.22,-247.708,0:842:1:824:24772:14 1/1:-2620.82,-306.148,0:1026:0:1017:31072:0 1/1:-1762.23,-207.109,0:700:0:688:20917:0 1/1:-3631.01,-422.626,0:1428:1:1407:43075:14 1/1:-2361.1,-270.927,0:916:0:900:27998:0 1/1:-2010.78,-235.252,0:811:1:791:24130:36 1/1:-3499.04,-409.1,0:1384:0:1359:41366:0 1/1:-2852.3,-334.444,0:1125:0:1111:33786:0 1/1:-1875.42,-226.676,0:764:0:753:22520:0 1/1:-3040.44,-351.904,0:1192:0:1169:35823:0 1/1:-2306.02,-267.758,0:910:1:899:27443:36 1/1:-2801.26,-327.822,0:1113:0:1089:33259:0 1/1:-2754.44,-315.475,0:1086:2:1067:32640:72 1/1:-3306.71,-376.15,0:1277:1:1255:38587:27 1/1:-3183.94,-367.558,0:1251:0:1221:37676:0 1/1:-1771.75,-226.375,0:773:0:752:21307:0 1/1:-2783.43,-322.704,0:1090:0:1072:32856:0 1/1:-3393.04,-393.747,0:1326:0:1308:40043:0 1/1:-2992.42,-349.195,0:1179:0:1160:35472:0 1/1:-3214.44,-373.879,0:1258:0:1242:37879:0 1/1:-1791.35,-215.236,0:724:0:715:21490:0 1/1:-2088.83,-244.135,0:825:0:811:24939:0 1/1:-2939.62,-350.435,0:1188:1:1164:34782:32 1/1:-2942.42,-343.765,0:1163:1:1145:34675:14 1/1:-3009.54,-350.945,0:1192:1:1169:35689:14 1/1:-2758.37,-326.317,0:1104:0:1084:32802:0 1/1:-2339.81,-275.28,0:952:2:927:27973:50 1/1:-2434.79,-284.774,0:967:0:946:28942:0 1/1:-2029.32,-235.949,0:795:1:787:24158:14 1/1:-3253.51,-379.973,0:1306:2:1280:38414:68 1/1:-1612.18,-191.12,0:644:1:636:19501:14 1/1:-2806.34,-332.638,0:1120:0:1105:33271:0 1/1:-4139.32,-473.821,0:1595:0:1574:48895:0 1/1:-2328.19,-267.616,0:901:0:889:27658:0 1/1:-3336.35,-385.299,0:1304:1:1283:39135:14 1/1:-2510.69,-288.086,0:968:0:957:29633:0 1/1:-3296.42,-379.599,0:1287:0:1261:38680:0 . 1/1:-2931.32,-323.005,0:1080:0:1073:34019:0:0,1073 1/1:-3374.26,-368.16,0:1233:0:1223:39266:0:0,1223 1/1:-3540.61,-380.803,0:1276:0:1265:41096:0:0,1265 1/1:-1681.08,-182.123,0:608:0:605:19429:0:0,605 1/1:-3005.48,-323.122,0:1091:2:1086:34649:50:2,1086 1/1:-3252.3,-349.62,0:1189:2:1178:37898:63:2,1178 1/1:-3025.28,-324.802,0:1090:1:1082:35041:14:1,1082 1/1:-3311.53,-355.509,0:1215:2:1200:38633:72:2,1200 1/1:-2980.83,-323.151,0:1097:1:1083:34542:36:1,1083 1/1:-2617.67,-287.183,0:961:0:954:30429:0:0,954 1/1:-3537.79,-379.293,0:1296:2:1279:41055:72:2,1279 1/1:-2376.33,-253.747,0:872:2:862:27718:72:2,862 1/1:-3028.42,-327.822,0:1101:0:1089:35050:0:0,1089 1/1:-2933.55,-315.61,0:1075:2:1061:33982:50:2,1061 1/1:-3123.29,-343.475,0:1156:0:1141:36440:0:0,1141 1/1:-2812.08,-305.545,0:1026:0:1015:32560:0:0,1015 1/1:-3282.92,-359.978,0:1212:1:1199:38282:14:1,1199 1/1:-2791.03,-303.438,0:1018:0:1008:32220:0:0,1008 1/1:-2949.99,-318.791,0:1065:0:1059:34080:0:0,1059 1/1:-2607.91,-284.473,0:960:0:945:30293:0:0,945 chr5 37364443 . C T 29435.98 . AB=0;ABP=0;AC=40;AF=1;AN=40;AO=1073;CIGAR=1X;DP=21621;DPB=1080;DPRA=0;EPP=183.935;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=40.3411;MQMR=0;NS=1;NUMALT=1;ODDS=1492.1;PAIRED=0.966449;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=34019;QR=0;RO=0;RPL=578;RPP=16.9518;RPPR=0;RPR=495;RUN=1;SAF=595;SAP=30.7133;SAR=478;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L\x3bNUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.9663;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9663;esp6500siv2_ea=0.9999;1000g2015aug_all=0.969649;avsnp147=rs217852;Kaviar_AF=0.947614;Kaviar_AC=146503;Kaviar_AN=154602;ExAC_ALL=0.9905;ExAC_AFR=0.8955;ExAC_AMR=0.9950;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9967;ExAC_SAS=0.9999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.9824;dpsi_zscore=1.962;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9927;gnomAD_exome_AFR=0.8951;gnomAD_exome_AMR=0.9950;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9987;gnomAD_exome_SAS=0.9996;gnomAD_genome_ALL=0.9711;gnomAD_genome_AFR=0.9000;gnomAD_genome_AMR=0.9869;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9908;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2931.32,-323.005,0:1080:0:1073:34019:0:0,1073 1/1:-3374.26,-368.16,0:1233:0:1223:39266:0:0,1223 1/1:-3540.61,-380.803,0:1276:0:1265:41096:0:0,1265 1/1:-1681.08,-182.123,0:608:0:605:19429:0:0,605 1/1:-3005.48,-323.122,0:1091:2:1086:34649:50:2,1086 1/1:-3252.3,-349.62,0:1189:2:1178:37898:63:2,1178 1/1:-3025.28,-324.802,0:1090:1:1082:35041:14:1,1082 1/1:-3311.53,-355.509,0:1215:2:1200:38633:72:2,1200 1/1:-2980.83,-323.151,0:1097:1:1083:34542:36:1,1083 1/1:-2617.67,-287.183,0:961:0:954:30429:0:0,954 1/1:-3537.79,-379.293,0:1296:2:1279:41055:72:2,1279 1/1:-2376.33,-253.747,0:872:2:862:27718:72:2,862 1/1:-3028.42,-327.822,0:1101:0:1089:35050:0:0,1089 1/1:-2933.55,-315.61,0:1075:2:1061:33982:50:2,1061 1/1:-3123.29,-343.475,0:1156:0:1141:36440:0:0,1141 1/1:-2812.08,-305.545,0:1026:0:1015:32560:0:0,1015 1/1:-3282.92,-359.978,0:1212:1:1199:38282:14:1,1199 1/1:-2791.03,-303.438,0:1018:0:1008:32220:0:0,1008 1/1:-2949.99,-318.791,0:1065:0:1059:34080:0:0,1059 1/1:-2607.91,-284.473,0:960:0:945:30293:0:0,945 chr5 37371059 . G A 4507.88 . AB=0.400943;ABP=75.2835;AC=1;AF=0.5;AN=2;AO=340;CIGAR=1X;DP=848;DPB=848;DPRA=0;EPP=7.3277;EPPR=36.1746;GTI=0;LEN=1;MEANALT=3;MQM=36.8147;MQMR=35.7338;NS=1;NUMALT=1;ODDS=1037.98;PAIRED=0.947059;PAIREDR=0.852814;PAO=0;PQA=0;PQR=0;PRO=0;QA=8528;QR=13410;RO=462;RPL=192;RPP=15.3749;RPPR=27.3759;RPR=148;RUN=1;SAF=189;SAP=12.2327;SAR=151;SF=0;SRF=298;SRP=87.4063;SRR=164;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon1:c.C21T:p.G7G,NUP155:NM_153485:exon1:c.C21T:p.G7G;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0085;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0085;1000g2015aug_all=0.0071885;avsnp147=rs61756070;Kaviar_AF=0.0087903;Kaviar_AC=1359;Kaviar_AN=154602;ExAC_ALL=0.0098;ExAC_AFR=0.0012;ExAC_AMR=0.0036;ExAC_EAS=0;ExAC_FIN=0.0073;ExAC_NFE=0.0105;ExAC_OTH=0.0146;ExAC_SAS=0.0227;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0094;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0.0280;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0088;gnomAD_exome_NFE=0.0087;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0216;gnomAD_genome_ALL=0.0070;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0097;gnomAD_genome_NFE=0.0098;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-465.06,0,-834.236:848:462:340:8528:13410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 155771510 . G C 7848.73 . AB=0.492451;ABP=3.43652;AC=1;AF=0.5;AN=2;AO=424;CIGAR=1X;DP=861;DPB=861;DPRA=0;EPP=86.9193;EPPR=76.3998;GTI=0;LEN=1;MEANALT=3;MQM=37.3113;MQMR=37.7971;NS=1;NUMALT=1;ODDS=1807.24;PAIRED=0.948113;PAIREDR=0.940334;PAO=0;PQA=0;PQR=0;PRO=0;QA=12707;QR=13119;RO=419;RPL=172;RPP=35.7872;RPPR=4.50805;RPR=252;RUN=1;SAF=226;SAP=7.02548;SAR=198;SF=0;SRF=210;SRP=3.01548;SRR=209;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon2:c.G12C:p.E4D,SGCD:NM_000337:exon3:c.G15C:p.E5D,SGCD:NM_172244:exon3:c.G15C:p.E5D;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00139776;avsnp147=rs549319429;Kaviar_AF=0.0011772;Kaviar_AC=182;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0;ExAC_AMR=8.643e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0090;CLNALLELEID=198172;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=0.02;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=1.14;FATHMM_pred=T;PROVEAN_score=-1.15;PROVEAN_pred=N;VEST3_score=0.196;CADD_raw=3.009;CADD_phred=22.3;DANN_score=0.996;fathmm-MKL_coding_score=0.810;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.474;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-1.12;phyloP7way_vertebrate=0.091;phyloP20way_mammalian=-0.148;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=7.297;GDI_full_10282015=.;dpsi_max_tissue=2.0628;dpsi_zscore=1.987;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.996e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0082;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-804.87,0,-827.666:861:419:424:12707:13119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 155771533 . C G 9372.41 . AB=0.426655;ABP=58.7533;AC=1;AF=0.5;AN=2;AO=509;CIGAR=1X;DP=1193;DPB=1193;DPRA=0;EPP=69.669;EPPR=150.271;GTI=0;LEN=1;MEANALT=3;MQM=37.387;MQMR=35.6129;NS=1;NUMALT=1;ODDS=2158.08;PAIRED=0.952849;PAIREDR=0.923767;PAO=0;PQA=0;PQR=0;PRO=0;QA=15966;QR=21642;RO=669;RPL=191;RPP=71.8191;RPPR=77.0189;RPR=318;RUN=1;SAF=276;SAP=10.8984;SAR=233;SF=0;SRF=366;SRP=15.8931;SRR=303;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon2:c.C35G:p.T12S,SGCD:NM_000337:exon3:c.C38G:p.T13S,SGCD:NM_172244:exon3:c.C38G:p.T13S;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.511;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.989;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=1.53;FATHMM_pred=T;PROVEAN_score=0.59;PROVEAN_pred=N;VEST3_score=0.093;CADD_raw=0.479;CADD_phred=7.266;DANN_score=0.906;fathmm-MKL_coding_score=0.785;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.896;MetaSVM_pred=T;MetaLR_score=0.357;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.64;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=16.445;GDI_full_10282015=.;dpsi_max_tissue=0.2725;dpsi_zscore=0.850;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-964.408,0,-1357.76:1193:669:509:15966:21642 . . . . . . . . . . . . . . . . . . . . . . . . . chr5 155771579 . T C 12928.03 . AB=0.450939;ABP=23.0386;AC=106;AF=0.5;AN=164;AO=432;CIGAR=1X;DP=78889;DPB=958;DPRA=0;EPP=30.5357;EPPR=27.7001;GTI=0;LEN=1;MEANALT=3;MQM=35.537;MQMR=37.622;NS=1;NUMALT=1;ODDS=1664.36;PAIRED=0.935185;PAIREDR=0.944882;PAO=0;PQA=0;PQR=0;PRO=0;QA=12616;QR=16030;RO=508;RPL=168;RPP=49.335;RPPR=86.7915;RPR=264;RUN=1;SAF=259;SAP=40.1867;SAR=173;SF=0,1;SRF=314;SRP=64.5638;SRR=194;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon2:c.T81C:p.Y27Y,SGCD:NM_000337:exon3:c.T84C:p.Y28Y,SGCD:NM_172244:exon3:c.T84C:p.Y28Y;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=0.3777;esp6500siv2_ea=0.4316;esp6500siv2_all=0.3777;esp6500siv2_ea=0.4316;1000g2015aug_all=0.485423;avsnp147=rs1801193;Kaviar_AF=0.453118;Kaviar_AC=70053;Kaviar_AN=154602;ExAC_ALL=0.4660;ExAC_AFR=0.2672;ExAC_AMR=0.4421;ExAC_EAS=0.7835;ExAC_FIN=0.4539;ExAC_NFE=0.4360;ExAC_OTH=0.5167;ExAC_SAS=0.5586;CLNALLELEID=57289;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5221;dpsi_zscore=1.788;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4678;gnomAD_exome_AFR=0.2630;gnomAD_exome_AMR=0.4426;gnomAD_exome_ASJ=0.4838;gnomAD_exome_EAS=0.7780;gnomAD_exome_FIN=0.4625;gnomAD_exome_NFE=0.4309;gnomAD_exome_OTH=0.4644;gnomAD_exome_SAS=0.5574;gnomAD_genome_ALL=0.4085;gnomAD_genome_AFR=0.2660;gnomAD_genome_AMR=0.4760;gnomAD_genome_ASJ=0.5298;gnomAD_genome_EAS=0.7884;gnomAD_genome_FIN=0.4499;gnomAD_genome_NFE=0.4331;gnomAD_genome_OTH=0.4290;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-743.142,0,-1037.6:958:508:432:12616:16030 1/1:-2651.86,-300.072,0:1127:13:1095:32493:423 0/1:-779.066,0,-960.598:928:469:436:12864:15038 0/1:-944.895,0,-1058.62:1070:528:525:15399:16473 0/1:-862.711,0,-874.145:892:424:453:13621:13584 0/1:-927.693,0,-1110.15:1059:544:496:15081:17061 0/1:-698.277,0,-939.649:885:469:396:11627:14589 0/1:-805.738,0,-1129.89:993:538:444:13192:17031 0/1:-755.13,0,-824.407:861:421:424:12555:13299 0/1:-591.063,0,-764.418:780:398:364:10376:12479 1/1:-1900.07,-202.885,0:803:14:774:23564:422 . . 1/1:-4602.81,-522.062,0:1931:22:1878:56119:628 0/1:-875.755,0,-913.131:934:450:468:13906:14257 0/1:-572.796,0,-712.548:719:366:335:9831:11637 0/1:-634.541,0,-707.594:739:361:359:10400:11309 0/1:-937.139,0,-1144.76:1083:556:515:15415:17654 1/1:-1289.57,-159.427,0:571:5:550:16033:106 0/1:-1101.67,0,-1337.67:1266:645:594:17994:20532 0/1:-1000.52,0,-1014.67:1068:499:543:16285:15997 1/1:-1583.76,-200.395,0:719:4:694:20143:122 0/1:-998.318,0,-1103.62:1069:528:526:15832:16878 . 0/1:-624.433,0,-694.976:715:353:349:10297:11265 0/1:-568.522,0,-756.562:675:356:308:9227:11306 1/1:-1928.94,-222.033,0:796:6:770:23474:137 . . 1/1:-1227.34,-136.987,0:535:9:515:15185:250 0/1:-910.972,0,-1013.01:980:484:483:14591:15617 0/1:-1057.44,0,-1129.76:1125:544:561:16948:17258 1/1:-1493.89,-184.245,0:646:3:633:18202:93 0/1:-836.439,0,-1092.83:1008:520:467:13766:16410 . . 0/1:-1298.02,0,-1195.31:1319:611:690:20746:19325 . 1/1:-2236.94,-248.882,0:926:9:896:27223:267 . . 0/1:-930.889,0,-1065.77:1031:517:497:15026:16460 1/1:-2338.86,-273.5,0:1009:11:978:28714:300 1/1:-1345.1,-156.678,0:570:6:557:16604:153 0/1:-731.549,0,-709.508:753:353:388:11434:11286 0/1:-1149.45,0,-1175.32:1215:574:618:18452:18329 1/1:-2449.99,-284.536,0:1032:7:1005:30121:228 0/1:-707.639,0,-934.998:903:466:414:12065:14794 1/1:-3050.4,-346.5,0:1275:11:1238:37110:348 0/1:-1010.57,0,-994.566:1036:488:535:16100:15554 0/1:-497.886,0,-629.634:659:338:302:8669:10247 . . 0/1:-536.533,0,-427.938:545:240:293:8579:7306 0/1:-672.876,0,-833.006:780:406:366:11043:12798 0/1:-824.83,0,-865.572:931:445:466:13343:14068 0/1:-456.439,0,-650.531:628:328:281:8245:10348 0/1:-1109.46,0,-1085.45:1152:544:593:17724:17130 . 0/1:-514.075,0,-631.432:641:330:301:8713:10129 . . . 0/1:-918.066,0,-988.868:1021:503:502:14752:15669 1/1:-1839.54,-217.651,0:791:7:765:22708:195 1/1:-2426.67,-261.595,0:1044:18:1001:29890:542 0/1:-828.85,0,-908.21:879:437:426:12872:13996 0/1:-1212.92,0,-1246.68:1269:613:636:19137:19546 0/1:-1045.7,0,-1147.74:1117:559:538:16629:17807 0/1:-428.799,0,-646.393:625:343:267:7854:10701 . 1/1:-2879.27,-327.746,0:1238:15:1187:35283:396 . . 0/1:-759.098,0,-518.46:649:268:377:11436:8647 1/1:-1390.67,-154.517,0:602:10:584:17190:303 . 0/1:-1007.38,0,-1010.53:1087:517:544:16088:16208 0/1:-1206.65,0,-1109.25:1200:557:627:18887:17317 . 0/1:-810.622,0,-887.642:891:445:434:13311:14028 0/1:-781.201,0,-838.362:860:421:428:12577:13281 . 0/1:-892.883,0,-1067.09:1073:548:509:14986:16853 0/1:-468.56,0,-625.632:566:300:255:7745:9480 0/1:-784.115,0,-955.219:953:480:444:13071:15024 0/1:-1228.11,0,-1164.51:1265:595:651:19574:18706 0/1:-869.245,0,-982.882:968:480:472:14026:15118 0/1:-1020.49,0,-967.932:1035:478:537:16022:15400 1/1:-2315.91,-268,0:990:10:960:28317:285 1/1:-2558.48,-291.668,0:1090:12:1060:31288:351 . 0/1:-996.366,0,-1302.2:1093:586:492:15496:18917:586,492 0/1:-1161.31,0,-1268.12:1150:583:554:17604:18808:583,554 . 0/1:-723.774,0,-699.455:677:324:347:10804:10360:324,347 0/1:-1214.95,0,-1172.73:1129:540:572:18123:17423:540,572 . 1/1:-3319.49,-349.556,0:1284:13:1255:39143:393:13,1255 0/1:-1254.44,0,-1360.74:1236:624:594:18803:20377:624,594 . 1/1:-2824.78,-289.187,0:1109:14:1075:33612:452:14,1075 . . 1/1:-2910.71,-309.394,0:1126:9:1101:34372:292:9,1101 . 0/1:-1065.95,0,-1270.96:1111:573:519:16413:18765:573,519 1/1:-2807.23,-296.941,0:1076:8:1053:33138:254:8,1053 1/1:-3349.82,-356.733,0:1283:10:1250:39656:303:10,1250 . 0/1:-929.601,0,-1103.89:975:498:463:14330:16258:498,463 0/1:-1194.83,0,-1117.59:1087:511:561:17628:16786:511,561 chr5 155771587 . G A 7710.86 . AB=0.477707;ABP=7.07662;AC=1;AF=0.5;AN=2;AO=450;CIGAR=1X;DP=942;DPB=942;DPRA=0;EPP=25.3234;EPPR=5.06088;GTI=0;LEN=1;MEANALT=3;MQM=37.6311;MQMR=37.7131;NS=1;NUMALT=1;ODDS=1775.49;PAIRED=0.953333;PAIREDR=0.952891;PAO=0;PQA=0;PQR=0;PRO=0;QA=12820;QR=14357;RO=467;RPL=178;RPP=45.6484;RPPR=17.076;RPR=272;RUN=1;SAF=273;SAP=47.4821;SAR=177;SF=0;SRF=290;SRP=62.384;SRR=177;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon2:c.G89A:p.R30Q,SGCD:NM_000337:exon3:c.G92A:p.R31Q,SGCD:NM_172244:exon3:c.G92A:p.R31Q;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs200476861;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=8.64e-05;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=193416;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|not_specified;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.934;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.33;MutationAssessor_pred=M;FATHMM_score=-3.79;FATHMM_pred=D;PROVEAN_score=-3.6;PROVEAN_pred=D;VEST3_score=0.882;CADD_raw=7.060;CADD_phred=33;DANN_score=1.000;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=1.008;MetaSVM_pred=D;MetaLR_score=0.907;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.7;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.618;GDI_full_10282015=.;dpsi_max_tissue=-2.7688;dpsi_zscore=-2.102;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.029e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.466e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-790,0,-902.854:942:467:450:12820:14357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 155935708 . G A 2908.22 . AB=0.447137;ABP=14.0303;AC=12;AF=0.5;AN=24;AO=203;CIGAR=1X;DP=4435;DPB=454;DPRA=0;EPP=73.1927;EPPR=141.627;GTI=0;LEN=1;MEANALT=3;MQM=37.9803;MQMR=38.4641;NS=1;NUMALT=1;ODDS=721.236;PAIRED=0.980296;PAIREDR=0.983122;PAO=0;PQA=0;PQR=0;PRO=0;QA=5525;QR=6818;RO=237;RPL=119;RPP=16.114;RPPR=23.2499;RPR=84;RUN=1;SAF=62;SAP=69.7697;SAR=141;SF=0,1;SRF=89;SRP=34.9044;SRR=148;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon3:c.G287A:p.R96Q,SGCD:NM_000337:exon4:c.G290A:p.R97Q,SGCD:NM_172244:exon4:c.G290A:p.R97Q;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=0.0479;esp6500siv2_ea=0.0642;esp6500siv2_all=0.0479;esp6500siv2_ea=0.0642;1000g2015aug_all=0.0189696;avsnp147=rs45559835;Kaviar_AF=0.0441327;Kaviar_AC=6823;Kaviar_AN=154602;ExAC_ALL=0.0451;ExAC_AFR=0.0106;ExAC_AMR=0.0316;ExAC_EAS=0.0002;ExAC_FIN=0.0442;ExAC_NFE=0.0635;ExAC_OTH=0.0473;ExAC_SAS=0.0223;CLNALLELEID=57281;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.308;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=-3.77;FATHMM_pred=D;PROVEAN_score=-2.76;PROVEAN_pred=D;VEST3_score=0.223;CADD_raw=7.006;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.910;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.123;MetaSVM_pred=T;MetaLR_score=0.337;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.283;GDI_full_10282015=.;dpsi_max_tissue=-0.5917;dpsi_zscore=-1.178;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM163260#"Altered_mechanical_stability";gnomAD_exome_ALL=0.0452;gnomAD_exome_AFR=0.0090;gnomAD_exome_AMR=0.0335;gnomAD_exome_ASJ=0.0780;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0436;gnomAD_exome_NFE=0.0636;gnomAD_exome_OTH=0.0552;gnomAD_exome_SAS=0.0204;gnomAD_genome_ALL=0.0387;gnomAD_genome_AFR=0.0099;gnomAD_genome_AMR=0.0274;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0447;gnomAD_genome_NFE=0.0574;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-336.286,0,-441.379:454:237:203:5525:6818 . 0/1:-170.834,0,-274.734:247:140:102:2846:4041 . . . . . . . . . . . . . . . . 0/1:-318.485,0,-228.531:322:142:173:4862:3862 . . . . . . . . . . . 0/1:-312.689,0,-350.78:374:181:181:4932:5462 . . . . . 0/1:-328.679,0,-331.373:368:174:186:5175:5094 . . . . . . 0/1:-349.991,0,-376.234:405:199:196:5574:5911 . . . . . . . . . . . . . . . . . . . 0/1:-313.115,0,-354.947:384:190:177:4989:5483 . . . . . . 0/1:-396.111,0,-396.785:470:224:232:6281:6339 0/1:-205.717,0,-196.151:254:119:122:3294:3356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-384.626,0,-452.272:417:215:198:5894:6768:215,198 . . 0/1:-310.597,0,-409.605:374:199:165:4931:6109:199,165 . . . . 0/1:-373.055,0,-354.914:366:176:186:5564:5359:176,186 . chr5 155935720 . T C 2910.85 . AB=0.395833;ABP=52.7732;AC=1;AF=0.5;AN=2;AO=209;CIGAR=1X;DP=528;DPB=528;DPRA=0;EPP=131.023;EPPR=178.666;GTI=0;LEN=1;MEANALT=3;MQM=36.7368;MQMR=38.7811;NS=1;NUMALT=1;ODDS=670.249;PAIRED=0.966507;PAIREDR=0.96633;PAO=0;PQA=0;PQR=0;PRO=0;QA=5712;QR=8730;RO=297;RPL=117;RPP=9.50394;RPPR=77.5934;RPR=92;RUN=1;SAF=70;SAP=52.4762;SAR=139;SF=0;SRF=128;SRP=15.3007;SRR=169;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0091;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0091;1000g2015aug_all=0.00279553;avsnp147=rs11748588;Kaviar_AF=0.006216;Kaviar_AC=961;Kaviar_AN=154602;ExAC_ALL=0.0067;ExAC_AFR=0.0015;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0192;ExAC_NFE=0.0084;ExAC_OTH=0.0059;ExAC_SAS=0.0027;CLNALLELEID=45433;CLNDN=Cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1089;dpsi_zscore=-0.475;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0067;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0030;gnomAD_exome_ASJ=0.0116;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0184;gnomAD_exome_NFE=0.0077;gnomAD_exome_OTH=0.0105;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0079;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0221;gnomAD_genome_NFE=0.0090;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-320.721,0,-578.235:528:297:209:5712:8730 . . . . . . . . . . . . . . . . . . . . . . . . . chr5 156016201 . T A 3114.17 . AB=0.425974;ABP=21.3353;AC=1;AF=0.5;AN=2;AO=164;CIGAR=1X;DP=385;DPB=385;DPRA=0;EPP=13.391;EPPR=12.539;GTI=0;LEN=1;MEANALT=3;MQM=40.9695;MQMR=41.4155;NS=1;NUMALT=1;ODDS=717.063;PAIRED=0.939024;PAIREDR=0.96347;PAO=0;PQA=0;PQR=0;PRO=0;QA=5087;QR=7124;RO=219;RPL=56;RPP=38.8131;RPPR=50.2175;RPR=108;RUN=1;SAF=106;SAP=33.5168;SAR=58;SF=1;SRF=155;SRP=85.1197;SRR=64;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0022;1000g2015aug_all=0.0509185;avsnp147=rs74571343;Kaviar_AF=0.0092819;Kaviar_AC=1435;Kaviar_AN=154602;ExAC_ALL=0.0136;ExAC_AFR=0.0371;ExAC_AMR=0.0045;ExAC_EAS=0.1723;ExAC_FIN=0;ExAC_NFE=0.0041;ExAC_OTH=0.0118;ExAC_SAS=0.0079;CLNALLELEID=488270;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1327;dpsi_zscore=-0.540;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0194;gnomAD_exome_AFR=0.0443;gnomAD_exome_AMR=0.0083;gnomAD_exome_ASJ=0.0055;gnomAD_exome_EAS=0.1872;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0161;gnomAD_exome_SAS=0.0077;gnomAD_genome_ALL=0.0237;gnomAD_genome_AFR=0.0448;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.1749;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-327.875,0,-505.983:385:219:164:5087:7124:219,164 . . . . . . . . . . . . . . . . chr5 156016213 . A C 575.37 . AB=0.225291;ABP=453.982;AC=1;AF=0.5;AN=2;AO=155;CIGAR=1X;DP=688;DPB=688;DPRA=0;EPP=11.7662;EPPR=157.587;GTI=0;LEN=1;MEANALT=3;MQM=27.8194;MQMR=38.4712;NS=1;NUMALT=1;ODDS=132.483;PAIRED=0.954839;PAIREDR=0.979424;PAO=0;PQA=0;PQR=0;PRO=0;QA=4238;QR=14086;RO=486;RPL=54;RPP=33.9573;RPPR=18.0408;RPR=101;RUN=1;SAF=91;SAP=13.2232;SAR=64;SF=0;SRF=256;SRP=6.0307;SRR=230;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0444;dpsi_zscore=-0.239;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-108.54,0,-992.234:688:486:155:4238:14086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 156016214 . TG TT 2187.92 . AB=0.360107;ABP=129.988;AC=1;AF=0.5;AN=2;AO=269;CIGAR=1M1X;DP=747;DPB=748.5;DPRA=0;EPP=92.0084;EPPR=116.443;GTI=0;LEN=1;MEANALT=9;MQM=27.9888;MQMR=39.84;NS=1;NUMALT=1;ODDS=503.787;PAIRED=0.97026;PAIREDR=0.974118;PAO=0;PQA=0;PQR=0;PRO=3;QA=6198;QR=12302;RO=425;RPL=97;RPP=48.4175;RPPR=30.238;RPR=172;RUN=1;SAF=137;SAP=3.21211;SAR=132;SF=0;SRF=212;SRP=3.01541;SRR=213;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-247.629,0,-849.887:747:425:269:6198:12302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172660004 . C T 3103.15 . AB=0.487179;ABP=3.56709;AC=9;AF=0.5;AN=18;AO=190;CIGAR=1X;DP=4262;DPB=390;DPRA=0;EPP=4.65605;EPPR=4.49475;GTI=0;LEN=1;MEANALT=3;MQM=32.1842;MQMR=33.8362;NS=1;NUMALT=1;ODDS=649.351;PAIRED=0.931579;PAIREDR=0.937853;PAO=0;PQA=0;PQR=0;PRO=0;QA=5301;QR=5311;RO=177;RPL=79;RPP=14.7134;RPPR=3.02257;RPR=111;RUN=1;SAF=88;SAP=5.25035;SAR=102;SF=0;SRF=80;SRP=6.55581;SRR=97;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NKX2-5:NM_004387:exon2:c.G543A:p.Q181Q;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.0054;esp6500siv2_ea=0.0077;esp6500siv2_all=0.0054;esp6500siv2_ea=0.0077;1000g2015aug_all=0.00479233;avsnp147=rs72554028;Kaviar_AF=0.0067722;Kaviar_AC=1047;Kaviar_AN=154602;ExAC_ALL=0.0093;ExAC_AFR=0.0011;ExAC_AMR=0.0096;ExAC_EAS=0;ExAC_FIN=0.0039;ExAC_NFE=0.0108;ExAC_OTH=0.0110;ExAC_SAS=0.0138;CLNALLELEID=45320;CLNDN=Atrial_septal_defect|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|MedGen:C3276096,OMIM:108900|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM096566#"Cardiac_disease";gnomAD_exome_ALL=0.0075;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0077;gnomAD_exome_ASJ=0.0336;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0069;gnomAD_exome_OTH=0.0087;gnomAD_exome_SAS=0.0119;gnomAD_genome_ALL=0.0043;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0061;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-290.761,0,-300.851:390:177:190:5301:5311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-401.642,0,-482.336:565:272:259:7250:8512 . . . . 0/1:-354.713,0,-452.005:524:261:238:6708:7951 . . . . . . . . . . . . . . . . . . . . . . 0/1:-445.922,0,-566.446:653:329:286:8006:9746 . . . . . . . . . 0/1:-327.379,0,-503.916:501:272:211:5997:8319 . . . 0/1:-220.231,0,-334.916:357:183:154:4079:5431 . . . 0/1:-352.896,0,-472.953:532:275:231:6364:8253 . . 0/1:-319.556,0,-384.532:440:220:201:5627:6594 . . 0/1:-172.859,0,-299.009:300:163:120:3242:4874 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172660508 . CAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG CAAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAAATAAAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAATAAAAAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAATAAATAAATAAATAAAAAAATAAAAATAAAACCAGGTG,TAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,AAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG 678.60 . 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GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/2:.,.,.,.,.,-47.2643,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:330:42:.,89,.,.,.,.,.,.,.:.,1351,.,.,.,.,.,.,.:1276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:.,.,.,.,.,-80.2683,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:465:67:.,105,.,.,.,.,.,.,.:.,1798,.,.,.,.,.,.,.:2027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2/1:.,.,-58.832,.,0,-84.6822,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:428:44:107,89,.,.,.,.,.,.,.:2549,1536,.,.,.,.,.,.,.:1351 . . . . . . . . . . . . 1/1:-58.5737,-83.5779,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:325:0:29,.,.,.,.,.,.,.,.:705,.,.,.,.,.,.,.,.:0:0,29 0/0:0,.,.,.,.,.,-39.1347,.,.,-355.092,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-53.591,.,.,-363.231,.,.,.,.,.,-370.771:471:131:.,.,29,.,.,.,.,.,24:.,.,704,.,.,.,.,.,510:4126:131,29,24 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-346.93,.,.,.,.,.,.,.,.,.,.:293:263:.,.,.,.,.,.,.,19,.:.,.,.,.,.,.,.,291,.:6025:263,19 0/3:-26.0838,.,.,.,.,.,0,.,.,-190.612,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:338:82:.,.,44,.,.,.,.,.,.:.,.,1082,.,.,.,.,.,.:2593:82,44 0/0:0,.,.,.,.,.,-3.2023,.,.,-138.159,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:311:54:.,.,29,.,.,.,.,.,.:.,.,629,.,.,.,.,.,.:1717:54,29 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-193.292,.,.,.,.,.,.,.,-187.569,-188.977,.,.,.,.,.,.,.,.,.,.:235:200:.,.,.,.,.,.,13,20,.:.,.,.,.,.,.,199,301,.:3647:200,20,13 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0/0:0,.,.,.,.,.,-21.8854,.,.,-91.2844,.,.,.,.,.,-12.1259,.,.,-96.5963,.,-83.7399,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:371:56:.,.,26,.,31,.,.,.,.:.,.,607,.,773,.,.,.,.:1836:56,26,31 0/3:-28.3618,.,.,.,.,.,0,.,.,-237.616,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:497:108:.,.,54,.,.,.,.,.,.:.,.,1283,.,.,.,.,.,.:3430:108,54 0/0:0,.,.,.,.,.,-46.8829,.,.,-474.16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-69.404,.,.,-488.781,.,.,.,.,.,-501.753:567:177:.,.,50,.,.,.,.,.,32:.,.,1064,.,.,.,.,.,732:5668:177,50,32 0/0:0,.,.,-16.6958,.,-180.571,-51.975,.,-214.787,-221.554,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:517:95:.,50,26,.,.,.,.,.,.:.,967,485,.,.,.,.,.,.:2998:95,26,50 4/4:-63.3227,.,.,.,.,.,.,.,.,.,-57.2185,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:462:0:.,.,.,48,.,.,.,.,.:.,.,.,890,.,.,.,.,.:0:0,48 0/0:0,.,.,.,.,.,-13.2724,.,.,-208.651,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:424:78:.,.,30,.,.,.,.,.,.:.,.,663,.,.,.,.,.,.:2485:78,30 0/3:-21.0542,.,.,.,.,.,0,.,.,-325.877,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:548:134:.,.,59,.,.,.,.,.,.:.,.,1354,.,.,.,.,.,.:4213:134,59 0/6:-50.0016,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,-119.039,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:521:78:.,.,.,.,.,68,.,.,.:.,.,.,.,.,1798,.,.,.:2518:78,68 0/0:0,.,.,.,.,.,-8.72868,.,.,-117.374,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:278:47:.,.,18,.,.,.,.,.,.:.,.,442,.,.,.,.,.,.:1506:47,18 chr5 172660516 . A T 5501.25 . AB=0.640708;ABP=100.173;AC=1;AF=0.5;AN=2;AO=362;CIGAR=1X;DP=565;DPB=565;DPRA=0;EPP=5.40972;EPPR=152.691;GTI=0;LEN=1;MEANALT=2;MQM=33.4006;MQMR=23.3119;NS=1;NUMALT=1;ODDS=245.221;PAIRED=0.939227;PAIREDR=0.816832;PAO=0;PQA=0;PQR=0;PRO=0;QA=9744;QR=5582;RO=202;RPL=162;RPP=11.6722;RPPR=82.5163;RPR=200;RUN=1;SAF=169;SAP=6.46546;SAR=193;SF=0;SRF=66;SRP=55.6846;SRR=136;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs547572698;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.042e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.489e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-569.157,0,-153.091:565:202:362:9744:5582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172660519 . AA TA,ATA 6042.85 . AB=0.376238;ABP=123.946;AC=1,1;AF=0.5;AN=4;AO=342;CIGAR=1M1I1M;DP=1565;DPB=1129.5;DPRA=0;EPP=8.7247;EPPR=35.8242;GTI=0;LEN=1;MEANALT=16;MQM=33.3655;MQMR=29.8717;NS=1;NUMALT=1;ODDS=878.976;PAIRED=0.938596;PAIREDR=0.910412;PAO=3;PQA=57.5;PQR=57.5;PRO=3;QA=7876;QR=12408;RO=413;RPL=149;RPP=15.3026;RPPR=17.7795;RPR=193;RUN=1;SAF=143;SAP=22.9218;SAR=199;SF=0;SRF=173;SRP=26.6126;SRR=240;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0135783;avsnp147=rs536213285;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0375;ExAC_AMR=0;ExAC_EAS=0.0185;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0088;ExAC_SAS=0.0006;CLNALLELEID=142227;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0415;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0.0112;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0125;gnomAD_genome_AFR=0.0380;gnomAD_genome_AMR=0.0040;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0157;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0012;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.0165;esp6500siv2_ea=0.0059;esp6500siv2_all=0.0165;esp6500siv2_ea=0.0059;1000g2015aug_all=.;avsnp147=rs564682054;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=0.0091;ExAC_AFR=0.0031;ExAC_AMR=0.0149;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0011;ExAC_OTH=0.0175;ExAC_SAS=0.0126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0027;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0123;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.004;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0004;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 0/2:-394.612,.,.,0,.,-635.07:909:413:.,342:.,7876:12408 . . . . . . . . . . . 0/1:.,.,-31.9353,.,.,.:656:185:466,.:12741,.:4708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172660521 . AATAAAT TAAAAAT,AAAAAAA 3540.08 . AB=0;ABP=0;AC=2,2;AF=1;AN=4;AO=224;CIGAR=1X1M1X;DP=568;DPB=403.333;DPRA=0;EPP=17.0085;EPPR=3.25157;GTI=0;LEN=3;MEANALT=10;MQM=32.0312;MQMR=32.5556;NS=1;NUMALT=1;ODDS=38.1872;PAIRED=0.919643;PAIREDR=1;PAO=0.5;PQA=10.5;PQR=28;PRO=2;QA=5626;QR=261;RO=9;RPL=94;RPP=15.5738;RPPR=9.04217;RPR=130;RUN=1;SAF=87;SAP=27.2455;SAR=137;SF=0,1;SRF=2;SRP=9.04217;SRR=7;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:.,.,0,.,.,.:390:9:224,.:5626,.:261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2/2:-138.389,.,.,-31.6721,.,0:178:3:.,113:.,2668:102:3,113 . . . . . . . . . . . . . . chr5 172660522 . ATAAATA AAAATA,AAAAATA,AATAAA,ATAAA 1726.27 . AB=0.369295;ABP=38.772;AC=3,4,2,1;AF=0.5;AN=12;AO=89;CIGAR=1M1D1M1X1M1X;DP=2312;DPB=227.833;DPRA=0;EPP=4.20583;EPPR=16.6021;GTI=0;LEN=4;MEANALT=16;MQM=20.1011;MQMR=33.2222;NS=1;NUMALT=1;ODDS=23.8772;PAIRED=0.955056;PAIREDR=0.962963;PAO=1;PQA=27;PQR=49;PRO=2;QA=2448;QR=778;RO=27;RPL=37;RPP=8.49998;RPPR=9.52472;RPR=52;RUN=1;SAF=26;SAP=36.4119;SAR=63;SF=0,1;SRF=6;SRP=21.1059;SRR=21;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs371347562;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0572;ExAC_AFR=0.2706;ExAC_AMR=0.0357;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0.0391;ExAC_OTH=0.0333;ExAC_SAS=0.0587;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0885;gnomAD_exome_AFR=0.2615;gnomAD_exome_AMR=0.0711;gnomAD_exome_ASJ=0.0666;gnomAD_exome_EAS=0.0228;gnomAD_exome_FIN=0.0757;gnomAD_exome_NFE=0.0860;gnomAD_exome_OTH=0.0924;gnomAD_exome_SAS=0.1111;gnomAD_genome_ALL=0.1865;gnomAD_genome_AFR=0.2261;gnomAD_genome_AMR=0.0932;gnomAD_genome_ASJ=0.1272;gnomAD_genome_EAS=0.0284;gnomAD_genome_FIN=0.0376;gnomAD_genome_NFE=0.2115;gnomAD_genome_OTH=0.1322;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.610623;avsnp147=rs3095871;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;ExAC_ALL=0.4675;ExAC_AFR=0.5537;ExAC_AMR=0.43;ExAC_EAS=0.2386;ExAC_FIN=.;ExAC_NFE=0.3887;ExAC_OTH=0.4625;ExAC_SAS=0.4960;CLNALLELEID=142226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3963;gnomAD_genome_AFR=0.6288;gnomAD_genome_AMR=0.2645;gnomAD_genome_ASJ=0.212;gnomAD_genome_EAS=0.1323;gnomAD_genome_FIN=0.3202;gnomAD_genome_NFE=0.2954;gnomAD_genome_OTH=0.3060;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/3:.,.,.,.,.,.,.,.,.,-27.3061,.,.,.,.,.:241:27:.,.,89,.:.,.,2448,.:778 . 1/2:.,.,-132.301,.,0,-58.0362,.,.,.,.,.,.,.,.,.:328:27:107,177,.,.:2944,3521,.,.:716 . . . . . . . 1/2:.,.,-358.71,.,0,-50.4954,.,.,.,.,.,.,.,.,.:704:24:205,453,.,.:5697,7752,.,.:652 . . . . . . . . . 0/2:.,.,.,.,.,-302.381,.,.,.,.,.,.,.,.,.:544:261:.,138,.,.:.,2455,.,.:7117 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/2:.,.,-69.2353,.,0,-53.8858,.,.,.,.,.,.,.,.,.:204:6:83,112,.,.:2094,2195,.,.:168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3/4:-180.248,.,.,.,.,.,-98.9983,.,.,-61.6733,-103.985,.,.,0,-69.6701:291:4:.,.,83,73:.,.,1704,1828:115:4,83,73 . . . . . . . . . . . . . . . . . chr5 172660523 . TAAAT AAAAT,AAAAA,TAAAA 1415.78 . AB=0;ABP=0;AC=22,31,8;AF=1;AN=74;AO=80;CIGAR=1X3M1X;DP=12106;DPB=125.6;DPRA=0;EPP=159.791;EPPR=3.73412;GTI=0;LEN=5;MEANALT=12;MQM=16.9625;MQMR=36;NS=1;NUMALT=1;ODDS=91.0094;PAIRED=0.7;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1518;QR=95;RO=3;RPL=54;RPP=24.2907;RPPR=3.73412;RPR=26;RUN=1;SAF=56;SAP=30.8051;SAR=24;SF=0;SRF=1;SRP=3.73412;SRR=2;TYPE=complex;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.610623;avsnp147=rs3095871;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;ExAC_ALL=0.4675;ExAC_AFR=0.5537;ExAC_AMR=0.43;ExAC_EAS=0.2386;ExAC_FIN=.;ExAC_NFE=0.3887;ExAC_OTH=0.4625;ExAC_SAS=0.4960;CLNALLELEID=142226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3963;gnomAD_genome_AFR=0.6288;gnomAD_genome_AMR=0.2645;gnomAD_genome_ASJ=0.212;gnomAD_genome_EAS=0.1323;gnomAD_genome_FIN=0.3202;gnomAD_genome_NFE=0.2954;gnomAD_genome_OTH=0.3060;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.4176;esp6500siv2_ea=0.4774;esp6500siv2_all=0.4176;esp6500siv2_ea=0.4774;1000g2015aug_all=.;avsnp147=rs780682576;Kaviar_AF=0.0217591;Kaviar_AC=3364;Kaviar_AN=154602;ExAC_ALL=0.0158;ExAC_AFR=0.0138;ExAC_AMR=0;ExAC_EAS=0.0067;ExAC_FIN=.;ExAC_NFE=0.0044;ExAC_OTH=0.0102;ExAC_SAS=0.0209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0061;gnomAD_exome_AMR=0.0093;gnomAD_exome_ASJ=0.0133;gnomAD_exome_EAS=0.0064;gnomAD_exome_FIN=0.0094;gnomAD_exome_NFE=0.0140;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0258;gnomAD_genome_ALL=0.0049;gnomAD_genome_AFR=0.0075;gnomAD_genome_AMR=0.0044;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0070;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0012;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 2/2:-72.6662,.,.,-16.9237,.,0,.,.,.,.:124:3:.,80,.:.,1518,.:95 . . 0/1:.,.,-572.33,.,.,.,.,.,.,.:493:348:143,.,.:3685,.,.:9407 . . . . . . . . . 2/3:-272.424,.,.,-184.119,.,-153.704,-87.7332,.,0,-47.0839:259:2:.,100,139:.,2213,4452:39 . 0/1:.,.,-564.005,.,.,.,.,.,.,.:673:433:238,.,.:5766,.,.:10779 . . . . . 0/1:.,.,-363.883,.,.,.,.,.,.,.:884:348:530,.,.:15167,.,.:8620 . . 0/1:.,.,-498.955,.,.,.,.,.,.,.:590:378:210,.,.:4786,.,.:9559 . 2/1:-170.35,-72.8031,-52.6562,-94.3858,0,-71.7668,.,.,.,.:194:5:85,90,.:1593,1740,.:131 . . 2/1:-185.787,-101.831,-77.4826,-82.4323,0,-48.7183,.,.,.,.:240:5:91,121,.:1474,2475,.:124 2/2:-122.576,.,.,-34.6305,.,0,.,.,.,.:141:2:.,123,.:.,2494,.:59 . . . . . 0/1:.,.,-501.334,.,.,.,.,.,.,.:576:368:206,.,.:4624,.,.:9119 . 2/2:-130.008,.,.,-32.0124,.,0,.,.,.,.:122:1:.,109,.:.,2205,.:27 . . 0/1:.,.,-165.769,.,.,.,.,.,.,.:426:217:208,.,.:4775,.,.:4824 2/2:-131.879,.,.,-30.5484,.,0,.,.,.,.:127:3:.,117,.:.,2303,.:78 . 0/1:.,.,-313.906,.,.,.,.,.,.,.:504:331:173,.,.:3718,.,.:7381 . . 2/2:-104.136,.,.,-17.0379,.,0,.,.,.,.:93:4:.,75,.:.,1520,.:101 . . 1/1:-118.305,-26.5227,0,.,.,.,.,.,.,.:214:1:84,.,.:1481,.,.:35 . . . . . 2/2:-138.521,.,.,-30.629,.,0,.,.,.,.:151:5:.,127,.:.,2647,.:156 0/1:.,.,-106.798,.,.,.,.,.,.,.:270:145:125,.,.:3048,.,.:3046 0/1:.,.,-439.204,.,.,.,.,.,.,.:539:350:185,.,.:4292,.,.:8429 2/3:-345.507,.,.,-238.157,.,-206.499,-101.22,.,0,-57.8249:341:9:.,134,174:.,2622,5425:247 . . . . 0/1:.,.,-486.338,.,.,.,.,.,.,.:621:374:247,.,.:5484,.,.:9336 . 3/3:-235.103,.,.,.,.,.,-37.0364,.,.,0:245:5:.,.,155:.,.,4645:136 . 2/1:-152.979,-59.8261,-48.1824,-81.4636,0,-70.0515,.,.,.,.:185:8:87,83,.:1554,1577,.:237 . 2/1:-154.247,-77.9509,-55.8063,-75.2703,0,-47.3311,.,.,.,.:199:1:78,95,.:1266,1802,.:25 . 2/2:-94.8594,.,.,-11.7995,.,0,.,.,.,.:127:12:.,100,.:.,1974,.:291 2/2:-54.9503,.,.,-10.7005,.,0,.,.,.,.:135:6:.,62,.:.,1086,.:157 2/1:-160.234,-73.6851,-53.1572,-83.617,0,-59.0469,.,.,.,.:199:5:83,95,.:1431,1802,.:140 . . 3/3:-383.261,.,.,.,.,.,-58.7869,.,.,0:354:5:.,.,214:.,.,6649:138 0/1:.,.,-386.807,.,.,.,.,.,.,.:465:291:174,.,.:4289,.,.:7281 2/2:-102.212,.,.,-24.0476,.,0,.,.,.,.:111:4:.,96,.:.,2111,.:107 . . 2/1:-198.961,-90.9268,-86.5783,-89.196,0,-69.8963,.,.,.,.:277:15:92,141,.:1759,2788,.:428 . 2/3:-413.777,.,.,-297.363,.,-274.212,-100.83,.,0,-50.8786:402:12:.,133,231:.,2692,6889:339 2/1:-147.421,-58.0189,-57.3928,-66.7061,0,-64.5134,.,.,.,.:227:15:93,98,.:1556,1882,.:396 . 2/2:-151.446,.,.,-26.8298,.,0,.,.,.,.:181:13:.,156,.:.,3174,.:350 0/1:.,.,-363.027,.,.,.,.,.,.,.:396:257:138,.,.:3496,.,.:6404 . . . 0/1:.,.,-469.526,.,.,.,.,.,.,.:676:367:306,.,.:7213,.,.:9136 . 2/3:-366.296,.,.,-248.906,.,-230.806,-100.803,.,0,-66.1511:345:11:.,123,182:.,2445,5652:324 . . . . . . . . . . . . . . . . . . . . . chr5 172660524 . AAAT AAAA 899.01 . AB=0.360882;ABP=64.0329;AC=3;AF=0.5;AN=6;AO=131;CIGAR=3M1X;DP=1310;DPB=363;DPRA=0;EPP=253.79;EPPR=5.60795;GTI=0;LEN=1;MEANALT=13;MQM=19.2977;MQMR=26.8318;NS=1;NUMALT=1;ODDS=7.43041;PAIRED=0.78626;PAIREDR=0.906542;PAO=0;PQA=0;PQR=0;PRO=0;QA=2775;QR=6189;RO=214;RPL=77;RPP=11.7791;RPPR=4.02501;RPR=54;RUN=1;SAF=81;SAP=18.94;SAR=50;SF=0;SRF=51;SRP=130.295;SRR=163;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.4176;esp6500siv2_ea=0.4774;esp6500siv2_all=0.4176;esp6500siv2_ea=0.4774;1000g2015aug_all=.;avsnp147=rs780682576;Kaviar_AF=0.0217591;Kaviar_AC=3364;Kaviar_AN=154602;ExAC_ALL=0.0158;ExAC_AFR=0.0138;ExAC_AMR=0;ExAC_EAS=0.0067;ExAC_FIN=.;ExAC_NFE=0.0044;ExAC_OTH=0.0102;ExAC_SAS=0.0209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0061;gnomAD_exome_AMR=0.0093;gnomAD_exome_ASJ=0.0133;gnomAD_exome_EAS=0.0064;gnomAD_exome_FIN=0.0094;gnomAD_exome_NFE=0.0140;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0258;gnomAD_genome_ALL=0.0049;gnomAD_genome_AFR=0.0075;gnomAD_genome_AMR=0.0044;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0070;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0012;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-48.1118,0,-294.189:363:214:131:2775:6189 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-51.7924,0,-482.507:473:307:153:3448:8764 . . . . . 0/1:-292.318,0,-137.392:474:162:292:7725:4582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172660525 . AAT AAA,ATA 1060.35 . AB=0.398844,0.50289;ABP=33.7624,3.0354;AC=2,1;AF=0.5,0.5;AN=4;AO=138,174;CIGAR=1M2X,2M1X;DP=644;DPB=348;DPRA=0,0;EPP=33.4739,276.366;EPPR=18.6449;GTI=0;LEN=2,1;MEANALT=10,10;MQM=20.0797,18.7184;MQMR=26.5;NS=1;NUMALT=2;ODDS=122.1;PAIRED=0.934783,0.666667;PAIREDR=0.95;PAO=0.333333,0.833333;PQA=4.66667,11.6667;PQR=11.6667;PRO=0.833333;QA=3108,3920;QR=519;RO=20;RPL=51,94;RPP=23.4033,5.45633;RPPR=3.44459;RPR=87,80;RUN=1,1;SAF=30,99;SAP=98.7439,10.1986;SAR=108,75;SF=0;SRF=7;SRP=6.91895;SRR=13;TYPE=mnp,snp;technology.ILLUMINA=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.4176;esp6500siv2_ea=0.4774;esp6500siv2_all=0.4176;esp6500siv2_ea=0.4774;1000g2015aug_all=.;avsnp147=rs780682576;Kaviar_AF=0.0217591;Kaviar_AC=3364;Kaviar_AN=154602;ExAC_ALL=0.0158;ExAC_AFR=0.0138;ExAC_AMR=0;ExAC_EAS=0.0067;ExAC_FIN=.;ExAC_NFE=0.0044;ExAC_OTH=0.0102;ExAC_SAS=0.0209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0061;gnomAD_exome_AMR=0.0093;gnomAD_exome_ASJ=0.0133;gnomAD_exome_EAS=0.0064;gnomAD_exome_FIN=0.0094;gnomAD_exome_NFE=0.0140;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0258;gnomAD_genome_ALL=0.0049;gnomAD_genome_AFR=0.0075;gnomAD_genome_AMR=0.0044;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0070;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0012;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.0028266;Kaviar_AC=437;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . 2/1:-251.435,-100.932,-75.9842,-129.071,0,-114.869:346:20:174,138:3920,3108:519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-51.2764,0,-181.767,.,.,.:298:169:126,.:2696,.:4800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172660526 . AT AA 1357.11 . AB=0.334232;ABP=91.5607;AC=9;AF=0.5;AN=16;AO=124;CIGAR=1M1X;DP=3857;DPB=371.5;DPRA=0;EPP=40.0654;EPPR=68.6542;GTI=0;LEN=1;MEANALT=5;MQM=20.7742;MQMR=28.9121;NS=1;NUMALT=1;ODDS=37.5227;PAIRED=0.91129;PAIREDR=0.903766;PAO=0.5;PQA=13.5;PQR=13.5;PRO=0.5;QA=2812;QR=6327;RO=239;RPL=64;RPP=3.29049;RPPR=19.8097;RPR=60;RUN=1;SAF=71;SAP=8.68415;SAR=53;SF=0;SRF=85;SRP=46.2671;SRR=154;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.4176;esp6500siv2_ea=0.4774;esp6500siv2_all=0.4176;esp6500siv2_ea=0.4774;1000g2015aug_all=.;avsnp147=rs780682576;Kaviar_AF=0.0217591;Kaviar_AC=3364;Kaviar_AN=154602;ExAC_ALL=0.0158;ExAC_AFR=0.0138;ExAC_AMR=0;ExAC_EAS=0.0067;ExAC_FIN=.;ExAC_NFE=0.0044;ExAC_OTH=0.0102;ExAC_SAS=0.0209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0061;gnomAD_exome_AMR=0.0093;gnomAD_exome_ASJ=0.0133;gnomAD_exome_EAS=0.0064;gnomAD_exome_FIN=0.0094;gnomAD_exome_NFE=0.0140;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0258;gnomAD_genome_ALL=0.0049;gnomAD_genome_AFR=0.0075;gnomAD_genome_AMR=0.0044;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0070;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0012;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-35.4936,0,-352.129:371:239:124:2812:6327 . . . . . 0/1:-59.6672,0,-258.668:341:195:139:3241:5401 . . . . . . . . 0/1:-122.609,0,-580.839:656:391:257:6014:10871 . . . . . . . . . . . . 1/1:-622.591,-119.207,0:485:16:459:12282:377 . 0/1:-111.527,0,-472.91:537:326:201:4530:8929 . . . . 0/1:-123.449,0,-392.763:537:306:218:4876:8379 . . . . . . . . 0/1:-74.474,0,-296.687:381:224:151:3519:6062 . . . . . . . . . . . . . . . 0/1:-98.5487,0,-532.321:549:339:196:4412:9415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172660527 . T A 3391.25 . AB=0.730315;ABP=237.068;AC=10;AF=0.5;AN=18;AO=371;CIGAR=1X;DP=5049;DPB=508;DPRA=0;EPP=29.2845;EPPR=95.234;GTI=0;LEN=1;MEANALT=2;MQM=32.3477;MQMR=22.375;NS=1;NUMALT=1;ODDS=64.5823;PAIRED=0.93531;PAIREDR=0.764706;PAO=0;PQA=0;PQR=0;PRO=0;QA=10747;QR=3310;RO=136;RPL=205;RPP=11.9128;RPPR=105.197;RPR=166;RUN=1;SAF=185;SAP=3.01615;SAR=186;SF=0;SRF=20;SRP=150.159;SRR=116;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.403355;avsnp147=rs55880439;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.4438;ExAC_AFR=0.2213;ExAC_AMR=0.5;ExAC_EAS=0.4718;ExAC_FIN=.;ExAC_NFE=0.3725;ExAC_OTH=0.4151;ExAC_SAS=0.4805;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3991;gnomAD_exome_AFR=0.1715;gnomAD_exome_AMR=0.5280;gnomAD_exome_ASJ=0.2982;gnomAD_exome_EAS=0.5509;gnomAD_exome_FIN=0.3431;gnomAD_exome_NFE=0.3637;gnomAD_exome_OTH=0.3957;gnomAD_exome_SAS=0.4074;gnomAD_genome_ALL=0.375;gnomAD_genome_AFR=0.2300;gnomAD_genome_AMR=0.5316;gnomAD_genome_ASJ=0.2841;gnomAD_genome_EAS=0.5688;gnomAD_genome_FIN=0.2550;gnomAD_genome_NFE=0.4326;gnomAD_genome_OTH=0.3966;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-658.915,0,-40.0689:508:136:371:10747:3310 . . 0/1:-234.348,0,-345.587:580:301:279:7254:7671 . . . . . 0/1:-38.2019,0,-374.164:415:269:142:3005:6888 . . . . 0/1:-172.81,0,-286.759:703:363:336:6681:8799 . . . . . . . . . 0/1:-348.363,0,-157.459:641:270:370:9642:6451 . . . . . . . . . . . . . . . . . . . . . 0/1:-249.02,0,-368.038:593:298:291:7633:7660 . . . . . . . 0/1:-181.817,0,-78.5116:331:130:201:5293:3202 . . . . . . . . . . . 1/1:-1141.5,-196.545,0:725:12:710:20211:277 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-240.582,0,-360.076:553:290:262:6931:7415 . . . . . . . . . . . . . . . . . . . . . . chr5 172660531 . A T 66.93 . AB=0.290476;ABP=163.162;AC=1;AF=0.5;AN=2;AO=122;CIGAR=1X;DP=420;DPB=420;DPRA=0;EPP=34.4077;EPPR=28.6337;GTI=0;LEN=1;MEANALT=2;MQM=21.1885;MQMR=29.1966;NS=1;NUMALT=1;ODDS=15.4116;PAIRED=0.860656;PAIREDR=0.911864;PAO=0;PQA=0;PQR=0;PRO=0;QA=3081;QR=8622;RO=295;RPL=44;RPP=23.5859;RPPR=4.2543;RPR=78;RUN=1;SAF=20;SAP=122.69;SAR=102;SF=0;SRF=148;SRP=3.01766;SRR=147;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762333634;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0024;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0.0030;ExAC_OTH=0;ExAC_SAS=0.0022;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0020;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0033;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-47.7565,0,-481.893:420:295:122:3081:8622 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172660535 . T A 80.10 . AB=0.477273;ABP=3.79993;AC=4;AF=0.5;AN=8;AO=84;CIGAR=1X;DP=842;DPB=176;DPRA=0;EPP=185.414;EPPR=154.069;GTI=0;LEN=1;MEANALT=1;MQM=14.6905;MQMR=14.4565;NS=1;NUMALT=1;ODDS=23.3139;PAIRED=0.702381;PAIREDR=0.51087;PAO=0;PQA=0;PQR=0;PRO=0;QA=1660;QR=2242;RO=92;RPL=50;RPP=9.62812;RPPR=125.368;RPR=34;RUN=1;SAF=50;SAP=9.62812;SAR=34;SF=0,1;SRF=10;SRP=125.368;SRR=82;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs56265301;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;ExAC_ALL=0.1031;ExAC_AFR=0.0241;ExAC_AMR=0.0333;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0.0852;ExAC_OTH=0.0769;ExAC_SAS=0.1183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0698;gnomAD_exome_AFR=0.0184;gnomAD_exome_AMR=0.0294;gnomAD_exome_ASJ=0.0489;gnomAD_exome_EAS=0.0044;gnomAD_exome_FIN=0.0739;gnomAD_exome_NFE=0.1059;gnomAD_exome_OTH=0.0667;gnomAD_exome_SAS=0.0866;gnomAD_genome_ALL=0.0582;gnomAD_genome_AFR=0.0169;gnomAD_genome_AMR=0.0380;gnomAD_genome_ASJ=0.0533;gnomAD_genome_EAS=0.0027;gnomAD_genome_FIN=0.0247;gnomAD_genome_NFE=0.0980;gnomAD_genome_OTH=0.0603;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-30.3215,0,-39.9863:176:92:84:1660:2242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-30.7309,0,-40.7195:161:86:75:1709:2176 . . . . . . . . . . . . . . . . . . 0/1:-6.41854,0,-239.831:303:213:90:2010:5398:213,90 . . 0/1:-55.7786,0,-65.8903:202:96:105:2720:2409:96,105 . . . . . . . . . . . . . . chr5 172660573 . G T 3869.51 . AB=0.501437;ABP=3.02278;AC=1;AF=0.5;AN=2;AO=349;CIGAR=1X;DP=696;DPB=696;DPRA=0;EPP=3.51428;EPPR=26.4922;GTI=0;LEN=1;MEANALT=3;MQM=28.4183;MQMR=30.8862;NS=1;NUMALT=1;ODDS=742.188;PAIRED=0.939828;PAIREDR=0.886207;PAO=0;PQA=0;PQR=0;PRO=0;QA=8913;QR=7941;RO=290;RPL=281;RPP=285.295;RPPR=219.409;RPR=68;RUN=1;SAF=111;SAP=103.365;SAR=238;SF=0;SRF=57;SRP=234.954;SRR=233;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs528573567;Kaviar_AF=0.0002689;Kaviar_AC=7;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-436.243,0,-381.137:696:290:349:8913:7941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172661831 . A G 2189.31 . AB=0.411145;ABP=48.5458;AC=1;AF=0.5;AN=2;AO=273;CIGAR=1X;DP=664;DPB=664;DPRA=0;EPP=3.40005;EPPR=35.4922;GTI=0;LEN=1;MEANALT=3;MQM=22.4725;MQMR=28.0475;NS=1;NUMALT=1;ODDS=504.108;PAIRED=0.860806;PAIREDR=0.854599;PAO=0;PQA=0;PQR=0;PRO=0;QA=6860;QR=8856;RO=337;RPL=162;RPP=23.6989;RPPR=74.0503;RPR=111;RUN=1;SAF=135;SAP=3.08189;SAR=138;SF=0;SRF=133;SRP=35.4922;SRR=204;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NKX2-5:NM_001166175:exon1:c.T256C:p.F86L,NKX2-5:NM_001166176:exon1:c.T256C:p.F86L,NKX2-5:NM_004387:exon1:c.T256C:p.F86L;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.834;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.120;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-2.52;FATHMM_pred=D;PROVEAN_score=-0.54;PROVEAN_pred=N;VEST3_score=0.587;CADD_raw=1.311;CADD_phred=12.32;DANN_score=0.998;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=0.221;MetaSVM_pred=D;MetaLR_score=0.704;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=4.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.999;phastCons7way_vertebrate=0.116;phastCons20way_mammalian=0.098;SiPhy_29way_logOdds=14.233;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-229.949,0,-423.498:664:337:273:6860:8856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172662014 . G A 4492.50 . AB=0.371206;ABP=169.136;AC=1;AF=0.5;AN=2;AO=428;CIGAR=1X;DP=1153;DPB=1153;DPRA=0;EPP=4.65412;EPPR=71.4824;GTI=0;LEN=1;MEANALT=3;MQM=31.6262;MQMR=33.7825;NS=1;NUMALT=1;ODDS=1034.44;PAIRED=0.82243;PAIREDR=0.866864;PAO=0;PQA=0;PQR=0;PRO=0;QA=10686;QR=19837;RO=676;RPL=219;RPP=3.51765;RPPR=220.158;RPR=209;RUN=1;SAF=232;SAP=9.5856;SAR=196;SF=0;SRF=415;SRP=79.1917;SRR=261;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NKX2-5:NM_001166175:exon1:c.C73T:p.R25C,NKX2-5:NM_001166176:exon1:c.C73T:p.R25C,NKX2-5:NM_004387:exon1:c.C73T:p.R25C;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0009;1000g2015aug_all=0.0101837;avsnp147=rs28936670;Kaviar_AF=0.0036287;Kaviar_AC=561;Kaviar_AN=154602;ExAC_ALL=0.0036;ExAC_AFR=0.0333;ExAC_AMR=0.0035;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0048;ExAC_SAS=0.0003;CLNALLELEID=24047;CLNDN=TRUNCUS_ARTERIOSUS|Tetralogy_of_Fallot|Interrupted_aortic_arch|Congenital_heart_disease|Hypothyroidism,_congenital,_nongoitrous,_5|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|Hypoplastic_left_heart_syndrome_2|not_specified|Cardiovascular_phenotype;CLNDISDB=.|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|Human_Phenotype_Ontology:HP:0011611,MedGen:C0152419,Orphanet:ORPHA2299|MedGen:C0152021,SNOMED_CT:13213009|MedGen:C2673630,OMIM:225250|MedGen:C3276096,OMIM:108900|MedGen:C3280795,OMIM:614435|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_pred=D;Polyphen2_HDIV_score=0.253;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.035;Polyphen2_HVAR_pred=B;LRT_score=0.253;LRT_pred=N;MutationTaster_score=0.954;MutationTaster_pred=A;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-2.53;FATHMM_pred=D;PROVEAN_score=-2.02;PROVEAN_pred=N;VEST3_score=0.339;CADD_raw=6.462;CADD_phred=29.9;DANN_score=0.999;fathmm-MKL_coding_score=0.835;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.290;MetaSVM_pred=T;MetaLR_score=0.276;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=3.89;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.877;phastCons7way_vertebrate=0.976;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=3.551;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM993125#"Cardiac_disease";gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0349;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0059;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.516e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0095;gnomAD_genome_AFR=0.0309;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-470.173,0,-1195.78:1153:676:428:10686:19837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr5 172662024 . T C 10431.95 . AB=0;ABP=0;AC=56;AF=1;AN=96;AO=695;CIGAR=1X;DP=55855;DPB=733;DPRA=0;EPP=116.992;EPPR=5.80219;GTI=0;LEN=1;MEANALT=3;MQM=32.3151;MQMR=33.8571;NS=1;NUMALT=1;ODDS=916.47;PAIRED=0.896403;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=17827;QR=160;RO=7;RPL=442;RPP=114.618;RPPR=3.32051;RPR=253;RUN=1;SAF=340;SAP=3.71329;SAR=355;SF=0,1;SRF=4;SRP=3.32051;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NKX2-5:NM_001166175:exon1:c.A63G:p.E21E,NKX2-5:NM_001166176:exon1:c.A63G:p.E21E,NKX2-5:NM_004387:exon1:c.A63G:p.E21E;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.4042;esp6500siv2_ea=0.2813;esp6500siv2_all=0.4042;esp6500siv2_ea=0.2813;1000g2015aug_all=0.535743;avsnp147=rs2277923;Kaviar_AF=0.0015847;Kaviar_AC=245;Kaviar_AN=154602;ExAC_ALL=0.4052;ExAC_AFR=0.6732;ExAC_AMR=0.5651;ExAC_EAS=0.6318;ExAC_FIN=0.4350;ExAC_NFE=0.3027;ExAC_OTH=0.4068;ExAC_SAS=0.4076;CLNALLELEID=54004;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1312416#"Cardiac_disease_modifier_of";gnomAD_exome_ALL=0.4071;gnomAD_exome_AFR=0.6714;gnomAD_exome_AMR=0.5486;gnomAD_exome_ASJ=0.3066;gnomAD_exome_EAS=0.6342;gnomAD_exome_FIN=0.4317;gnomAD_exome_NFE=0.2975;gnomAD_exome_OTH=0.3702;gnomAD_exome_SAS=0.4027;gnomAD_genome_ALL=0.4347;gnomAD_genome_AFR=0.6523;gnomAD_genome_AMR=0.5276;gnomAD_genome_ASJ=0.2483;gnomAD_genome_EAS=0.6380;gnomAD_genome_FIN=0.4174;gnomAD_genome_NFE=0.2926;gnomAD_genome_OTH=0.3704;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-1362.7,-198.993,0:733:7:695:17827:160 . . 0/1:-680.295,0,-556.647:973:394:464:11947:10071 . . . . . . 0/1:-553.123,0,-605.108:956:430:405:10439:10888 . 0/1:-1205.84,0,-895.157:1735:684:831:21353:17356 . 0/1:-1630.12,0,-1690.85:2617:1187:1154:30017:30206 . . . 0/1:-770.876,0,-783.084:1300:564:577:14860:14419 . . 0/1:-712.364,0,-555.079:1044:430:490:13057:11013 0/1:-590.611,0,-667.585:1067:482:457:11393:12259 0/1:-979.831,0,-625.072:1206:462:632:16840:11576 1/1:-1987.19,-283.61,0:1056:9:992:26359:228 . 0/1:-616.71,0,-626.794:1003:444:439:11480:10987 . . . . . . 0/1:-614.06,0,-726.191:1098:495:479:11822:12721 . . . 0/1:-1047.97,0,-806.834:1484:589:727:18820:15172 1/1:-2103.58,-296.567,0:1102:14:1050:27605:298 . . 0/1:-1103.75,0,-916.428:1530:637:736:19665:17026 0/1:-668.454,0,-720.962:1144:531:490:13056:12917 . . . 0/1:-945.889,0,-775.982:1406:571:673:17581:14642 0/1:-1049.04,0,-852.616:1476:602:713:18533:15447 . . . . . . 1/1:-1205.16,-175.825,0:688:13:628:16116:288 0/1:-439.404,0,-473.225:704:323:300:7942:8365 1/1:-2128,-292.052,0:1120:15:1044:27538:353 . . . . 0/1:-1073.98,0,-936.134:1516:647:721:19430:16972 . 0/1:-594.924,0,-355.684:763:281:400:10498:7092 . 0/1:-586.199,0,-514.381:887:371:405:10659:9175 1/1:-1902.36,-277.072,0:1029:10:978:24950:242 0/1:-690.678,0,-668.008:1144:495:490:12804:12324 . . 0/1:-503.936,0,-425.275:857:341:415:10275:8905 0/1:-742.061,0,-644.637:1046:439:506:13374:11543 . . 0/1:-1017.96,0,-705.093:1418:545:718:18933:13830 0/1:-492.321,0,-531.483:775:360:339:8716:9238 0/1:-334.407,0,-311.689:496:219:225:6140:5522 . . 0/1:-861.675,0,-673.599:1288:504:608:15731:12897 0/1:-633.212,0,-586.369:1012:429:471:12099:10818 0/1:-608.52,0,-498.913:915:376:436:11253:9360 0/1:-566.644,0,-581.171:987:421:445:11257:10630 . . 0/1:-395.041,0,-364.428:599:261:269:7068:6596 0/1:-699.354,0,-665.444:1099:471:482:12814:12090 . . 0/1:-1107.04,0,-932.022:1579:649:756:19690:16948 0/1:-935.393,0,-687.38:1347:534:658:16944:13365 0/1:-893.571,0,-802.071:1364:573:637:16166:14526 . 1/1:-3337.93,-362.767,0:1287:10:1266:38828:250:10,1266 . . . 0/1:-1171.2,0,-1126.67:1215:615:571:17546:17227:615,571 0/1:-1372.91,0,-1376.55:1457:740:665:20859:20980:740,665 . 0/1:-1424.91,0,-1145.11:1352:620:681:20974:17725:620,681 . 1/1:-3633.49,-386.863,0:1426:18:1390:42801:431:18,1390 0/1:-1314.63,0,-1215.14:1323:651:639:19861:18346:651,639 0/1:-962.214,0,-884.968:981:479:465:14505:13650:479,465 . . . 0/1:-1121.07,0,-1198.94:1251:649:570:17363:18147:649,570 . . . . chr6 7542148 . CAT CAAT,TAT 361.86 . AB=0.394737;ABP=10.3247;AC=17,0;AF=0.5;AN=38;AO=30;CIGAR=1M1I2M;DP=2205;DPB=86.6667;DPRA=0;EPP=3.29983;EPPR=8.34028;GTI=0;LEN=1;MEANALT=10;MQM=16.7667;MQMR=25.6061;NS=1;NUMALT=1;ODDS=12.1999;PAIRED=0.766667;PAIREDR=0.606061;PAO=1;PQA=14;PQR=0;PRO=0;QA=398;QR=965;RO=33;RPL=13;RPP=4.16842;RPPR=4.65535;RPR=17;RUN=1;SAF=21;SAP=13.4334;SAR=9;SF=0,1;SRF=25;SRP=22.0271;SRR=8;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=DSP;GeneDetail.refGene=NM_004415:c.-1_0insA,NM_001008844:c.-1_0insA;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.1665;esp6500siv2_ea=0.1456;esp6500siv2_all=0.1665;esp6500siv2_ea=0.1456;1000g2015aug_all=0.199681;avsnp147=rs17133512;Kaviar_AF=0.0053233;Kaviar_AC=823;Kaviar_AN=154602;ExAC_ALL=0.1994;ExAC_AFR=0.2722;ExAC_AMR=0.2824;ExAC_EAS=0.3023;ExAC_FIN=0.2527;ExAC_NFE=0.1686;ExAC_OTH=0.1623;ExAC_SAS=0.1516;CLNALLELEID=44679;CLNDN=Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1668;gnomAD_exome_AFR=0.2182;gnomAD_exome_AMR=0.2447;gnomAD_exome_ASJ=0.1022;gnomAD_exome_EAS=0.2611;gnomAD_exome_FIN=0.1730;gnomAD_exome_NFE=0.1365;gnomAD_exome_OTH=0.1513;gnomAD_exome_SAS=0.1255;gnomAD_genome_ALL=0.1715;gnomAD_genome_AFR=0.2098;gnomAD_genome_AMR=0.2231;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.2494;gnomAD_genome_FIN=0.1620;gnomAD_genome_NFE=0.1418;gnomAD_genome_OTH=0.1656;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=DSP;GeneDetail.refGene=NM_004415:c.-1C>T,NM_001008844:c.-1C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-12.0246,0,-42.4464,.,.,.:76:33:30,.:398,.:965 0/1:-16.6269,0,-60.5521,.,.,.:91:43:35,.:506,.:1208 . 1/1:-103.144,-20.3143,0,.,.,.:94:2:75,.:1299,.:34 . . . . 0/1:-32.1118,0,-31.7615,.,.,.:83:29:36,.:627,.:828 . . . . . . . . . 0/1:-42.1056,0,-61.832,.,.,.:132:56:54,.:917,.:1569 . . . . . . . 0/1:-26.4219,0,-60.6913,.,.,.:113:47:46,.:696,.:1326 . . . . 1/1:-157.357,-30.7837,0,.,.,.:134:4:107,.:1944,.:78 . . . . . . . . . 0/1:-15.651,0,-45.4853,.,.,.:81:34:32,.:439,.:933 . . . 1/1:-33.6447,-8.36562,0,.,.,.:36:1:29,.:431,.:16 . . . 0/1:-36.2744,0,-54.2157,.,.,.:131:49:54,.:810,.:1205 . . . . . . . . . . . . . . . . . . . . . 0/1:-49.363,0,-78.8754,.,.,.:145:61:62,.:1064,.:1758 . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-280.054:139:127:.,10:.,189:3824:127,10 0/0:.,.,.,.,.,-292.291:152:134:.,13:.,256:3978:134,13 0/1:-26.0889,0,-31.3226,.,.,.:50:20:21,.:437,.:583:20,21 0/1:-16.1924,0,-96.2976,.,.,.:98:52:24,.:472,.:1520:52,24 0/1:-76.0493,0,-130.617,.,.,.:169:81:65,.:1465,.:2236:81,65 . . . 0/0:.,.,.,.,.,-296.935:151:137:.,12:.,240:3966:137,12 0/0:.,.,.,.,.,-269.944:161:140:.,14:.,272:3828:140,14 . . . . 0/0:.,.,.,.,.,-306.448:169:149:.,11:.,227:4220:149,11 . . . . chr6 7542253 . G A 965.89 . AB=0.391892;ABP=18.0345;AC=5;AF=0.5;AN=10;AO=58;CIGAR=1X;DP=1325;DPB=148;DPRA=0;EPP=4.35811;EPPR=10.3247;GTI=0;LEN=1;MEANALT=3;MQM=30.6552;MQMR=31.5921;NS=1;NUMALT=1;ODDS=126.666;PAIRED=0.844828;PAIREDR=0.894737;PAO=0;PQA=0;PQR=0;PRO=0;QA=1425;QR=2338;RO=76;RPL=21;RPP=12.5947;RPPR=16.8392;RPR=37;RUN=1;SAF=33;SAP=5.40641;SAR=25;SF=0;SRF=49;SRP=16.8392;SRR=27;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.G105A:p.G35G,DSP:NM_004415:exon1:c.G105A:p.G35G;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0087;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0087;1000g2015aug_all=0.00339457;avsnp147=rs77445784;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;ExAC_ALL=0.0094;ExAC_AFR=0.0023;ExAC_AMR=0.0088;ExAC_EAS=0;ExAC_FIN=0.0043;ExAC_NFE=0.0160;ExAC_OTH=0.0140;ExAC_SAS=0.0015;CLNALLELEID=44680;CLNDN=Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0019;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0095;gnomAD_exome_OTH=0.0067;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-62.9634,0,-128.809:148:76:58:1425:2338 . . . . . . . . . . . . . . . . . . . . 0/1:-92.7781,0,-209.497:293:158:118:2723:4394 . . 0/1:-144.535,0,-233.078:332:171:141:3374:4733 . . . . . . . . . . . 0/1:-113.765,0,-169.613:271:134:113:2723:3847 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-111.537,0,-159.78:281:128:131:3104:3504 . . . . . . . . . . . . . . . . . . . . . . . chr6 7542274 . T C 1500.62 . AB=0.545455;ABP=5.37918;AC=15;AF=0.5;AN=26;AO=72;CIGAR=1X;DP=2817;DPB=132;DPRA=0;EPP=66.8275;EPPR=13.7006;GTI=0;LEN=1;MEANALT=3;MQM=32.8611;MQMR=28.9808;NS=1;NUMALT=1;ODDS=102.963;PAIRED=0.902778;PAIREDR=0.884615;PAO=0;PQA=0;PQR=0;PRO=0;QA=1925;QR=1294;RO=52;RPL=39;RPP=4.09604;RPPR=5.68288;RPR=33;RUN=1;SAF=44;SAP=10.7311;SAR=28;SF=0,1;SRF=34;SRP=13.7006;SRR=18;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.T126C:p.Y42Y,DSP:NM_004415:exon1:c.T126C:p.Y42Y;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0667;esp6500siv2_ea=0.0524;esp6500siv2_all=0.0667;esp6500siv2_ea=0.0524;1000g2015aug_all=0.0609026;avsnp147=rs36087964;Kaviar_AF=0.0413449;Kaviar_AC=6392;Kaviar_AN=154602;ExAC_ALL=0.0980;ExAC_AFR=0.1685;ExAC_AMR=0.0678;ExAC_EAS=0.0358;ExAC_FIN=0.1736;ExAC_NFE=0.1147;ExAC_OTH=0.0966;ExAC_SAS=0.0604;CLNALLELEID=54022;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0546;gnomAD_exome_AFR=0.1094;gnomAD_exome_AMR=0.0326;gnomAD_exome_ASJ=0.1100;gnomAD_exome_EAS=0.0168;gnomAD_exome_FIN=0.0594;gnomAD_exome_NFE=0.0557;gnomAD_exome_OTH=0.0659;gnomAD_exome_SAS=0.0499;gnomAD_genome_ALL=0.0638;gnomAD_genome_AFR=0.0974;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.0173;gnomAD_genome_FIN=0.0533;gnomAD_genome_NFE=0.0529;gnomAD_genome_OTH=0.0540;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-109.304,0,-53.8281:132:52:72:1925:1294 . . . . . . . . . . . . 0/1:-85.7462,0,-117.868:182:95:76:2017:2392 . . . . . 0/1:-153.776,0,-170.843:276:139:124:3308:3427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-197.208,0,-151.632:304:133:156:4150:3411 0/1:-91.976,0,-138.374:214:118:86:2145:2986 . . . . . . . 0/1:-101.58,0,-113.406:190:94:86:2425:2384 . . . . . . . . . 0/1:-191.593,0,-133.526:273:121:143:3862:3108 . . . . . . . . . 0/1:-201.352,0,-166.885:206:98:106:3323:2681:98,106 . . . 1/1:-482.846,-53.0856,0:198:3:192:5841:62:3,192 . . . 0/1:-244.837,0,-174.424:220:95:121:3828:2783:95,121 1/1:-430.244,-54.4864,0:186:0:181:5447:0:0,181 . . 0/1:-245.373,0,-166.065:229:97:126:3822:2860:97,126 0/1:-157.486,0,-216.464:207:115:90:2700:3363:115,90 . . chr6 7556063 . C T 8183.37 . AB=0.474667;ABP=7.19111;AC=11;AF=0.5;AN=22;AO=356;CIGAR=1X;DP=10719;DPB=750;DPRA=0;EPP=3.10789;EPPR=3.06159;GTI=0;LEN=1;MEANALT=3;MQM=37.1011;MQMR=38.1129;NS=1;NUMALT=1;ODDS=1448.07;PAIRED=0.898876;PAIREDR=0.910761;PAO=0;PQA=0;PQR=0;PRO=0;QA=10494;QR=12329;RO=381;RPL=159;RPP=11.8182;RPPR=25.6312;RPR=197;RUN=1;SAF=153;SAP=18.2594;SAR=203;SF=0;SRF=171;SRP=11.6791;SRR=210;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0273;esp6500siv2_ea=0.0378;esp6500siv2_all=0.0273;esp6500siv2_ea=0.0378;1000g2015aug_all=0.0125799;avsnp147=rs56148603;Kaviar_AF=0.023719;Kaviar_AC=3667;Kaviar_AN=154602;ExAC_ALL=0.0251;ExAC_AFR=0.0054;ExAC_AMR=0.0200;ExAC_EAS=0.0003;ExAC_FIN=0.0137;ExAC_NFE=0.0373;ExAC_OTH=0.0217;ExAC_SAS=0.0093;CLNALLELEID=54046;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0076;dpsi_zscore=0.051;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0235;gnomAD_exome_AFR=0.0051;gnomAD_exome_AMR=0.0214;gnomAD_exome_ASJ=0.0152;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0127;gnomAD_exome_NFE=0.0372;gnomAD_exome_OTH=0.0288;gnomAD_exome_SAS=0.0083;gnomAD_genome_ALL=0.0216;gnomAD_genome_AFR=0.0085;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0106;gnomAD_genome_NFE=0.0343;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR 0/1:-638.442,0,-804.979:750:381:356:10494:12329 . . . 0/1:-833.528,0,-997.572:995:503:474:13898:15892 0/1:-988.04,0,-1276.1:1241:645:578:16748:20095 . . . . . . . . . 0/1:-1164.44,0,-1397.5:1330:680:626:18983:21529 . . . . . . . . . . . . 0/1:-535.457,0,-715.81:723:370:330:9627:11488 . . . . . . . . . . . . . . . . . 0/1:-841.599,0,-925.032:941:470:456:13419:15006 . . 0/1:-1031.93,0,-1132.2:1124:566:539:16423:17935 . . 0/1:-870.326,0,-1170.42:1060:553:488:14377:17620 . . . . . . . . . . . 0/1:-866.509,0,-1154.92:1071:555:493:14607:17443 . 0/1:-385.905,0,-490.916:500:258:230:6556:7966 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-993.236,0,-838.171:984:446:519:15519:13932 . . . . . . . . . . . . . . . . . . . . . . . chr6 7559560 . A C 10087.60 . AB=0.457841;ABP=21.3195;AC=1;AF=0.5;AN=2;AO=543;CIGAR=1X;DP=1186;DPB=1186;DPRA=0;EPP=7.90911;EPPR=4.52792;GTI=0;LEN=1;MEANALT=3;MQM=39.744;MQMR=39.2631;NS=1;NUMALT=1;ODDS=2322.75;PAIRED=0.939227;PAIREDR=0.941363;PAO=0;PQA=0;PQR=0;PRO=0;QA=16156;QR=19542;RO=631;RPL=168;RPP=174.365;RPPR=94.4427;RPR=375;RUN=1;SAF=256;SAP=6.85337;SAR=287;SF=1;SRF=307;SRP=4.00484;SRR=324;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon4:c.A524C:p.Q175P,DSP:NM_004415:exon4:c.A524C:p.Q175P;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.969;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-0.68;FATHMM_pred=T;PROVEAN_score=-2.47;PROVEAN_pred=N;VEST3_score=0.817;CADD_raw=5.152;CADD_phred=25.4;DANN_score=0.996;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.263;MetaSVM_pred=T;MetaLR_score=0.382;MetaLR_pred=T;integrated_fitCons_score=0.745;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.968;SiPhy_29way_logOdds=16.203;GDI_full_10282015=.;dpsi_max_tissue=0.1903;dpsi_zscore=0.704;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1036.64,0,-1306.75:1186:631:543:16156:19542:631,543 . . . . . . . . . . . . . chr6 7563983 . T G 21054.76 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=1018;CIGAR=1X;DP=104877;DPB=1047;DPRA=0;EPP=12.8736;EPPR=17.2236;GTI=0;LEN=1;MEANALT=3;MQM=39.0059;MQMR=31.9545;NS=1;NUMALT=1;ODDS=1282.98;PAIRED=0.985265;PAIREDR=0.909091;PAO=0;PQA=0;PQR=0;PRO=0;QA=29547;QR=378;RO=22;RPL=276;RPP=466.221;RPPR=6.56362;RPR=742;RUN=1;SAF=609;SAP=88.3334;SAR=409;SF=0,1;SRF=9;SRP=4.58955;SRR=13;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon6:c.T741G:p.A247A,DSP:NM_004415:exon6:c.T741G:p.A247A;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.9985;esp6500siv2_ea=0.9981;esp6500siv2_all=0.9985;esp6500siv2_ea=0.9981;1000g2015aug_all=1;avsnp147=rs2806234;Kaviar_AF=0.964399;Kaviar_AC=149098;Kaviar_AN=154602;ExAC_ALL=0.9991;ExAC_AFR=0.9997;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=0.9994;ExAC_NFE=0.9985;ExAC_OTH=1;ExAC_SAS=0.9999;CLNALLELEID=54119;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0379;dpsi_zscore=-0.208;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9992;gnomAD_exome_AFR=0.9997;gnomAD_exome_AMR=1.0000;gnomAD_exome_ASJ=0.9991;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9993;gnomAD_exome_NFE=0.9986;gnomAD_exome_OTH=0.9995;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9995;gnomAD_genome_AFR=0.9999;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9991;gnomAD_genome_NFE=0.9992;gnomAD_genome_OTH=0.9990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2484.93,-283.8,0:1047:22:1018:29547:378 1/1:-2686.74,-319.015,0:1155:24:1126:31865:403 1/1:-2352.05,-276.058,0:982:16:961:27636:251 1/1:-1568.03,-181.741,0:657:12:642:18584:223 1/1:-2106.55,-234.455,0:930:31:893:25126:545 1/1:-2675.04,-299.647,0:1163:37:1116:31975:602 1/1:-2146.92,-256.32,0:904:10:890:25300:198 1/1:-2298.24,-263.285,0:1005:30:973:27332:433 1/1:-1847.17,-210.782,0:797:20:772:21899:335 1/1:-2493.26,-288.408,0:1048:19:1023:29370:309 1/1:-2389.15,-255.326,0:1014:32:978:28487:584 1/1:-2152.18,-243.914,0:928:28:896:25488:418 1/1:-2017.25,-218.437,0:874:30:839:24088:507 1/1:-1950.95,-225.777,0:856:25:825:23426:364 1/1:-1917.46,-225.099,0:810:14:792:22495:209 1/1:-3409.37,-393.645,0:1460:31:1420:40203:514 1/1:-1987.46,-231.855,0:862:20:837:23793:300 1/1:-4595.99,-507.481,0:1945:57:1877:54463:882 1/1:-2269.68,-256.522,0:948:24:923:26658:361 1/1:-1747.21,-204.03,0:769:20:747:20861:350 1/1:-1655.23,-189.359,0:717:18:694:19914:279 1/1:-2860.12,-330.481,0:1199:20:1175:33796:351 1/1:-1514.51,-178.878,0:650:12:634:18168:206 1/1:-2577.62,-289.373,0:1113:32:1077:30607:521 1/1:-2490.22,-282.805,0:1052:27:1021:29345:400 1/1:-2003.13,-237.604,0:859:18:841:23781:272 1/1:-2168.36,-243.644,0:927:26:895:25644:399 1/1:-2223.72,-250.196,0:953:27:925:26396:436 1/1:-1820.43,-216.605,0:802:19:777:21709:308 1/1:-1729.45,-190.915,0:745:22:719:20458:401 1/1:-2099.97,-241.135,0:900:21:877:24713:346 1/1:-2916.75,-328.855,0:1247:32:1209:34712:526 1/1:-2408.53,-275.874,0:1051:26:1020:28809:464 1/1:-2041.84,-236.111,0:897:26:870:24350:448 1/1:-2397.95,-267.93,0:1034:31:994:28391:485 1/1:-2649.99,-307.731,0:1164:31:1130:31524:489 1/1:-2333.92,-264.934,0:1020:31:986:27715:493 1/1:-2907.95,-330.095,0:1227:31:1192:34243:483 1/1:-2452.2,-289.381,0:1073:28:1043:29238:430 1/1:-1450.63,-167.126,0:628:17:609:17187:251 1/1:-3194.35,-359.236,0:1331:30:1295:37636:491 1/1:-1923.78,-218.816,0:817:21:791:22731:343 1/1:-2122.68,-239.481,0:902:23:872:25067:391 1/1:-2411.94,-260.181,0:1043:37:1002:28950:607 1/1:-3217.21,-372.356,0:1362:28:1329:38246:425 1/1:-2453.04,-280.483,0:1065:31:1023:28991:470 1/1:-2255.28,-256.995,0:963:22:935:26638:377 1/1:-1295.5,-147.666,0:547:12:534:15387:199 1/1:-1979.14,-218.997,0:859:24:832:23593:463 1/1:-2589.58,-287.252,0:1119:36:1079:30761:560 1/1:-2518.06,-283.921,0:1093:34:1054:29977:523 1/1:-2211.95,-263.637,0:969:21:944:26285:343 1/1:-2969.66,-339.334,0:1271:36:1234:35320:569 1/1:-2449.94,-268.543,0:1058:34:1020:29256:600 1/1:-1704.58,-196.268,0:754:22:726:20606:378 1/1:-1828.7,-206.074,0:767:20:742:21366:280 1/1:-2472.63,-282.071,0:1070:33:1031:29492:506 1/1:-1281.39,-151.164,0:591:19:568:15622:323 1/1:-1601.04,-184.139,0:697:17:673:19040:284 1/1:-1916.25,-214.691,0:822:24:794:22714:374 1/1:-1548.54,-178.425,0:666:18:646:18459:252 1/1:-2762.38,-305.777,0:1207:37:1163:33070:709 1/1:-1842.57,-202.002,0:782:22:757:21818:422 1/1:-1604.78,-184.318,0:702:18:681:19241:298 1/1:-2819.76,-313.843,0:1242:46:1193:33974:723 1/1:-2316.56,-263.252,0:1002:30:967:27578:483 1/1:-1338.82,-150.393,0:588:18:568:16310:314 1/1:-2513.06,-290.771,0:1064:19:1037:29615:311 1/1:-1756.79,-199.877,0:748:17:725:20872:291 1/1:-2285.22,-269.329,0:976:20:952:27243:280 1/1:-1973.38,-225.848,0:844:21:820:23206:323 1/1:-2992.11,-342.842,0:1269:30:1235:35443:452 1/1:-3042.36,-335.559,0:1282:36:1241:36096:635 1/1:-1513.07,-178.943,0:686:22:662:18159:321 1/1:-2175.03,-244.527,0:928:26:896:25619:418 1/1:-2606.29,-301.714,0:1105:22:1077:30804:382 1/1:-2446.62,-270.247,0:1019:23:989:28905:435 1/1:-2967.92,-334.611,0:1266:33:1222:35206:532 1/1:-1634.71,-185.947,0:688:14:669:19263:282 1/1:-1613.58,-185.452,0:673:11:659:18944:201 1/1:-2457.43,-277.867,0:1080:34:1041:29324:539 1/1:-2886.68,-337.618,0:1238:29:1204:34091:437 1/1:-2510.75,-294.625,0:1113:27:1079:29892:471 1/1:-2142.01,-251.603,0:931:22:905:25512:364 1/1:-1852.23,-218.43,0:791:15:772:22037:228 1/1:-1884.97,-211.463,0:821:26:792:22613:455 1/1:-1855.46,-213.812,0:806:20:780:22090:344 1/1:-2464.14,-277.737,0:1065:32:1030:29170:524 1/1:-1478.06,-169.989,0:629:15:608:17440:250 1/1:-2419,-273.161,0:1047:30:1015:28803:504 1/1:-3365.76,-375.793,0:1440:45:1393:39969:773 1/1:-1858.48,-202.049,0:793:25:761:22100:414 1/1:-2787.99,-309.626,0:1203:39:1161:33124:610 1/1:-2339.92,-266.997,0:1013:29:980:27717:471 1/1:-2451.21,-271.069,0:1065:33:1023:29454:584 . 1/1:-1646.19,-173.656,0:650:15:634:19179:263:15,634 1/1:-1732.96,-183.01,0:666:12:650:20078:188:12,650 1/1:-2033.02,-226.839,0:791:8:779:23689:125:8,779 1/1:-922.506,-100.394,0:355:5:349:10676:70:5,349 1/1:-1434.84,-150.262,0:564:13:548:16781:218:13,548 1/1:-1970.69,-202.904,0:779:22:754:23229:360:22,754 1/1:-1482.01,-156.746,0:577:13:562:17275:195:13,562 1/1:-1609.02,-173.917,0:617:8:608:18593:144:8,608 1/1:-1586.05,-170.851,0:625:12:613:18439:221:12,613 1/1:-1505.91,-153.897,0:601:18:581:17723:321:18,581 1/1:-1967.2,-214.436,0:747:9:738:22747:133:9,738 1/1:-1279.02,-137.561,0:505:9:493:14948:197:9,493 1/1:-1379.67,-151.043,0:544:9:534:16202:139:9,534 1/1:-1433,-155.571,0:562:8:550:16800:148:8,550 1/1:-1825.91,-196.168,0:732:19:712:21474:288:19,712 1/1:-1680.22,-165.632,0:672:24:647:19829:425:24,647 1/1:-1979.14,-207.205,0:773:18:754:23002:283:18,754 1/1:-1581.23,-174.186,0:616:9:605:18331:144:9,605 1/1:-1529.26,-157.219,0:598:16:579:17918:250:16,579 1/1:-1549.68,-156.956,0:619:20:599:18218:326:20,599 chr6 7564041 . G A 8367.95 . AB=0.491099;ABP=3.66743;AC=1;AF=0.5;AN=2;AO=469;CIGAR=1X;DP=955;DPB=955;DPRA=0;EPP=132.137;EPPR=63.008;GTI=0;LEN=1;MEANALT=3;MQM=38.936;MQMR=39.4692;NS=1;NUMALT=1;ODDS=1926.79;PAIRED=0.98081;PAIREDR=0.982379;PAO=0;PQA=0;PQR=0;PRO=0;QA=13432;QR=13477;RO=454;RPL=311;RPP=111.394;RPPR=172.06;RPR=158;RUN=1;SAF=264;SAP=19.1273;SAR=205;SF=0;SRF=268;SRP=35.171;SRR=186;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000199681;avsnp147=rs147178098;Kaviar_AF=0.0011319;Kaviar_AC=175;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=9.614e-05;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0021;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0722;dpsi_zscore=0.390;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-870.528,0,-873.399:955:454:469:13432:13477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7565651 . G C 7748.92 . AB=0.477742;ABP=6.97365;AC=1;AF=0.5;AN=2;AO=440;CIGAR=1X;DP=921;DPB=921;DPRA=0;EPP=4.60929;EPPR=15.0529;GTI=0;LEN=1;MEANALT=3;MQM=36.9386;MQMR=36.9701;NS=1;NUMALT=1;ODDS=1784.26;PAIRED=0.927273;PAIREDR=0.910448;PAO=0;PQA=0;PQR=0;PRO=0;QA=12914;QR=14193;RO=469;RPL=182;RPP=31.5158;RPPR=25.0538;RPR=258;RUN=1;SAF=225;SAP=3.50382;SAR=215;SF=0;SRF=237;SRP=3.12605;SRR=232;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon7:c.G837C:p.T279T,DSP:NM_004415:exon7:c.G837C:p.T279T;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=501455;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4880;dpsi_zscore=-1.080;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-785.52,0,-879.732:921:469:440:12914:14193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7565727 . A T 13227.75 . AB=0.48495;ABP=4.77508;AC=14;AF=0.5;AN=22;AO=435;CIGAR=1X;DP=10907;DPB=897;DPRA=0;EPP=4.81237;EPPR=11.7557;GTI=0;LEN=1;MEANALT=3;MQM=36.7793;MQMR=36.2192;NS=1;NUMALT=1;ODDS=1703.11;PAIRED=0.912644;PAIREDR=0.90411;PAO=0;PQA=0;PQR=0;PRO=0;QA=12230;QR=13050;RO=438;RPL=270;RPP=58.0459;RPPR=31.646;RPR=165;RUN=1;SAF=208;SAP=4.81237;SAR=227;SF=0,1;SRF=235;SRP=8.08698;SRR=203;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon7:c.A913T:p.I305F,DSP:NM_004415:exon7:c.A913T:p.I305F;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0419;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0419;1000g2015aug_all=0.0183706;avsnp147=rs17604693;Kaviar_AF=0.0303877;Kaviar_AC=4698;Kaviar_AN=154602;ExAC_ALL=0.0299;ExAC_AFR=0.0062;ExAC_AMR=0.0141;ExAC_EAS=0.0003;ExAC_FIN=0.0227;ExAC_NFE=0.0394;ExAC_OTH=0.0297;ExAC_SAS=0.0362;CLNALLELEID=44690;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.869;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.22;MutationAssessor_pred=M;FATHMM_score=-3.52;FATHMM_pred=D;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.243;CADD_raw=5.980;CADD_phred=27.8;DANN_score=0.990;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=0.905;MetaSVM_pred=D;MetaLR_score=0.860;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.71;GDI_full_10282015=.;dpsi_max_tissue=-0.0712;dpsi_zscore=-0.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150219#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0297;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0152;gnomAD_exome_ASJ=0.0450;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0238;gnomAD_exome_NFE=0.0397;gnomAD_exome_OTH=0.0323;gnomAD_exome_SAS=0.0365;gnomAD_genome_ALL=0.0246;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0201;gnomAD_genome_NFE=0.0387;gnomAD_genome_OTH=0.0245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-753.38,0,-784.414:897:438:435:12230:13050 . . . . . . . . . 0/1:-555.274,0,-655.856:741:372:344:9517:11009 . . . . 1/1:-2389.75,-285.724,0:1088:24:1041:29617:468 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-723.47,0,-954.396:991:517:438:12697:15395 . . . . . . . 0/1:-839.515,0,-981.463:1081:552:498:13972:16254 . . . . . . . . . . . . . . . . . 1/1:-2960.81,-341.126,0:1324:27:1262:36695:567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2370.82,-225.863,0:935:27:903:28088:645:27,903 . 0/1:-911.547,0,-1078.03:973:512:454:14021:15884:512,454 . . . 0/1:-1011.38,0,-1037.99:1008:501:493:15385:15670:501,493 0/1:-854.127,0,-1033.98:940:496:435:13245:15339:496,435 . . . . 0/1:-842.591,0,-1042.87:929:487:431:13198:15540:487,431 . chr6 7566616 . A G 3159.94 . AB=0.412602;ABP=35.653;AC=1;AF=0.5;AN=2;AO=203;CIGAR=1X;DP=492;DPB=492;DPRA=0;EPP=30.833;EPPR=63.067;GTI=0;LEN=1;MEANALT=3;MQM=37.7833;MQMR=38.1143;NS=1;NUMALT=1;ODDS=727.602;PAIRED=0.970443;PAIREDR=0.971429;PAO=0;PQA=0;PQR=0;PRO=0;QA=5744;QR=8918;RO=280;RPL=83;RPP=17.6544;RPPR=19.4204;RPR=120;RUN=1;SAF=132;SAP=42.8135;SAR=71;SF=0;SRF=173;SRP=36.7922;SRR=107;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon8:c.A946G:p.M316V,DSP:NM_004415:exon8:c.A946G:p.M316V;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs201672777;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=2.484e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.513e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=487089;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.983;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.848;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.555;MutationAssessor_pred=M;FATHMM_score=-0.15;FATHMM_pred=T;PROVEAN_score=-2.71;PROVEAN_pred=D;VEST3_score=0.758;CADD_raw=5.481;CADD_phred=26.2;DANN_score=0.996;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=0.195;MetaSVM_pred=D;MetaLR_score=0.538;MetaLR_pred=D;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.4;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.729;GDI_full_10282015=.;dpsi_max_tissue=0.3103;dpsi_zscore=0.906;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1413442#"Sudden_cardiac_death";gnomAD_exome_ALL=1.63e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.69e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-334.148,0,-590.109:492:280:203:5744:8918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7567609 . C T 8496.56 . AB=0.417219;ABP=65.9255;AC=2;AF=0.5;AN=4;AO=441;CIGAR=1X;DP=1951;DPB=1057;DPRA=0;EPP=12.1147;EPPR=21.6476;GTI=0;LEN=1;MEANALT=3;MQM=40.746;MQMR=41.043;NS=1;NUMALT=1;ODDS=2013.97;PAIRED=0.968254;PAIREDR=0.966887;PAO=0;PQA=0;PQR=0;PRO=0;QA=14015;QR=19102;RO=604;RPL=153;RPP=92.7497;RPPR=196.516;RPR=288;RUN=1;SAF=277;SAP=65.8845;SAR=164;SF=1;SRF=378;SRP=86.0727;SRR=226;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon9:c.C1067T:p.T356M,DSP:NM_004415:exon9:c.C1067T:p.T356M;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs780626687;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.415;MutationAssessor_pred=M;FATHMM_score=-3.26;FATHMM_pred=D;PROVEAN_score=-3.72;PROVEAN_pred=D;VEST3_score=0.675;CADD_raw=7.332;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=0.868;MetaSVM_pred=D;MetaLR_score=0.882;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.26;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.221;GDI_full_10282015=.;dpsi_max_tissue=-1.2788;dpsi_zscore=-1.617;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.22e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.691e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-904.415,0,-1349.39:1057:604:441:14015:19102:604,441 . . . . . . . . . 0/1:-847.495,0,-1015.17:894:462:410:12850:14746:462,410 . . . . . . . chr6 7569487 . G A 4038.41 . AB=0.456172;ABP=12.3371;AC=1;AF=0.5;AN=2;AO=255;CIGAR=1X;DP=559;DPB=559;DPRA=0;EPP=8.33254;EPPR=3.07887;GTI=0;LEN=1;MEANALT=3;MQM=34.7922;MQMR=34.9088;NS=1;NUMALT=1;ODDS=929.878;PAIRED=0.85098;PAIREDR=0.849123;PAO=0;PQA=0;PQR=0;PRO=0;QA=7246;QR=8343;RO=285;RPL=106;RPP=18.7556;RPPR=58.059;RPR=149;RUN=1;SAF=134;SAP=4.44943;SAR=121;SF=0;SRF=149;SRP=4.29794;SRR=136;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon12:c.G1488A:p.T496T,DSP:NM_004415:exon12:c.G1488A:p.T496T;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0014;1000g2015aug_all=0.00239617;avsnp147=rs35820473;Kaviar_AF=0.0011384;Kaviar_AC=176;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0058;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=54028;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0318;dpsi_zscore=-0.175;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0056;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0034;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-413.822,0,-494.146:559:285:255:7246:8343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7569522 . TGG TGGG 4861.58 . AB=0.37428;ABP=146.061;AC=1;AF=0.5;AN=2;AO=390;CIGAR=1M1I2M;DP=1042;DPB=1193;DPRA=0;EPP=5.70515;EPPR=26.545;GTI=0;LEN=1;MEANALT=29;MQM=34.7333;MQMR=36.0578;NS=1;NUMALT=1;ODDS=1119.42;PAIRED=0.871795;PAIREDR=0.884393;PAO=11.5;PQA=39;PQR=39;PRO=11.5;QA=9105;QR=14924;RO=519;RPL=163;RPP=25.8163;RPPR=3.21531;RPR=227;RUN=1;SAF=199;SAP=3.36664;SAR=191;SF=0;SRF=282;SRP=11.4828;SRR=237;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=DSP:NM_001008844:exon12:c.1525dupG:p.G509fs,DSP:NM_004415:exon12:c.1525dupG:p.G509fs;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-500.491,0,-922.826:1042:519:390:9105:14924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7569587 . G T 6875.73 . AB=0.432407;ABP=45.8687;AC=1;AF=0.5;AN=2;AO=467;CIGAR=1X;DP=1080;DPB=1080;DPRA=0;EPP=8.07397;EPPR=3.01393;GTI=0;LEN=1;MEANALT=3;MQM=35.6253;MQMR=37.2504;NS=1;NUMALT=1;ODDS=1583.19;PAIRED=0.890792;PAIREDR=0.883139;PAO=0;PQA=0;PQR=0;PRO=0;QA=12811;QR=18042;RO=599;RPL=288;RPP=58.255;RPPR=189.811;RPR=179;RUN=1;SAF=212;SAP=11.6078;SAR=255;SF=0;SRF=291;SRP=4.05797;SRR=308;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs200443042;Kaviar_AF=0.0003881;Kaviar_AC=60;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=9.61e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=54030;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0071;dpsi_zscore=0.048;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=6.536e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-705.967,0,-1161.94:1080:599:467:12811:18042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7570797 . G A 11305.30 . AB=0.517028;ABP=6.26415;AC=1;AF=0.5;AN=2;AO=668;CIGAR=1X;DP=1292;DPB=1292;DPRA=0;EPP=4.58364;EPPR=3.04405;GTI=0;LEN=1;MEANALT=3;MQM=35.5599;MQMR=37.0017;NS=1;NUMALT=1;ODDS=2360.34;PAIRED=0.901198;PAIREDR=0.911917;PAO=0;PQA=0;PQR=0;PRO=0;QA=19230;QR=17534;RO=579;RPL=470;RPP=243.511;RPPR=123.176;RPR=198;RUN=1;SAF=293;SAP=24.8681;SAR=375;SF=0;SRF=250;SRP=26.4164;SRR=329;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=DSP;GeneDetail.refGene=NM_004415:exon13:c.1701+1G>A,NM_001008844:exon13:c.1701+1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=5.251;CADD_phred=25.6;DANN_score=0.996;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.099;integrated_confidence_value=0;GERP++_RS=5.68;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.924;phastCons20way_mammalian=0.950;SiPhy_29way_logOdds=19.800;GDI_full_10282015=.;dpsi_max_tissue=-5.6695;dpsi_zscore=-2.579;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR 0/1:-1166.45,0,-1048.39:1292:579:668:19230:17534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7571640 . T C 5370.94 . AB=0.415716;ABP=51.6937;AC=1;AF=0.5;AN=2;AO=328;CIGAR=1X;DP=789;DPB=789;DPRA=0;EPP=8.20065;EPPR=31.5158;GTI=0;LEN=1;MEANALT=3;MQM=38.5366;MQMR=38.7591;NS=1;NUMALT=1;ODDS=1236.7;PAIRED=0.957317;PAIREDR=0.943182;PAO=0;PQA=0;PQR=0;PRO=0;QA=9247;QR=13245;RO=440;RPL=135;RPP=25.2811;RPPR=3.08926;RPR=193;RUN=1;SAF=185;SAP=14.6886;SAR=143;SF=0;SRF=246;SRP=16.355;SRR=194;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon14:c.T1726C:p.Y576H,DSP:NM_004415:exon14:c.T1726C:p.Y576H;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.409;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.2;MutationAssessor_pred=L;FATHMM_score=-0.58;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_pred=N;VEST3_score=0.796;CADD_raw=5.055;CADD_phred=25.2;DANN_score=0.998;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.486;MetaSVM_pred=T;MetaLR_score=0.358;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.64;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=15.870;GDI_full_10282015=.;dpsi_max_tissue=0.1773;dpsi_zscore=0.677;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-552.176,0,-884.624:789:440:328:9247:13245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7572262 . A G 15128.81 . AB=0;ABP=0;AC=191;AF=1;AN=222;AO=624;CIGAR=1X;DP=79671;DPB=638;DPRA=0;EPP=479.412;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=38.8494;MQMR=24.6667;NS=1;NUMALT=1;ODDS=851.519;PAIRED=0.972756;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=19914;QR=42;RO=3;RPL=429;RPP=193.557;RPPR=3.73412;RPR=195;RUN=1;SAF=244;SAP=67.375;SAR=380;SF=0,1;SRF=3;SRP=9.52472;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon15:c.A2091G:p.G697G,DSP:NM_004415:exon15:c.A2091G:p.G697G;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.7859;esp6500siv2_ea=0.7795;esp6500siv2_all=0.7859;esp6500siv2_ea=0.7795;1000g2015aug_all=0.774361;avsnp147=rs2076304;Kaviar_AF=0.750851;Kaviar_AC=116083;Kaviar_AN=154602;ExAC_ALL=0.7614;ExAC_AFR=0.8012;ExAC_AMR=0.7622;ExAC_EAS=0.8130;ExAC_FIN=0.7120;ExAC_NFE=0.7720;ExAC_OTH=0.7577;ExAC_SAS=0.6862;CLNALLELEID=54037;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0209;dpsi_zscore=-0.110;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7616;gnomAD_exome_AFR=0.8014;gnomAD_exome_AMR=0.7705;gnomAD_exome_ASJ=0.8349;gnomAD_exome_EAS=0.8090;gnomAD_exome_FIN=0.7166;gnomAD_exome_NFE=0.7704;gnomAD_exome_OTH=0.7681;gnomAD_exome_SAS=0.6819;gnomAD_genome_ALL=0.7676;gnomAD_genome_AFR=0.7984;gnomAD_genome_AMR=0.7506;gnomAD_genome_ASJ=0.8543;gnomAD_genome_EAS=0.8169;gnomAD_genome_FIN=0.7120;gnomAD_genome_NFE=0.7585;gnomAD_genome_OTH=0.7357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1676.87,-185.62,0:638:3:624:19914:42 1/1:-2135.36,-239.91,0:831:2:816:25454:72 1/1:-2024.74,-216.474,0:786:8:772:24154:214 0/1:-482.876,0,-537.904:503:255:239:7449:8052 1/1:-1691.4,-192.09,0:654:2:641:20187:35 1/1:-2096.76,-239.656,0:810:2:799:25092:35 1/1:-1799.05,-204.065,0:706:2:697:21303:72 1/1:-1883.86,-206.627,0:717:3:707:22533:89 1/1:-1709.97,-194.747,0:660:1:650:20260:14 1/1:-1950.42,-209.519,0:774:7:757:23564:244 1/1:-1812.13,-208.259,0:713:3:701:21647:42 0/1:-700.96,0,-676.281:696:338:351:10616:10669 1/1:-1751.31,-196.156,0:690:5:673:20893:105 0/1:-538.357,0,-554.874:569:278:281:8516:8716 1/1:-1472.16,-166.307,0:593:3:580:17667:104 1/1:-2446.3,-269.935,0:932:5:920:29178:132 0/1:-629.195,0,-647.435:646:317:313:9743:10015 0/1:-1405.63,0,-1373.11:1375:670:696:21599:21185 1/1:-1854.32,-210.746,0:722:2:711:22031:72 0/1:-492.426,0,-461.419:486:231:249:7683:7330 1/1:-1278.43,-142.306,0:483:1:478:15094:21 1/1:-2192.68,-246.96,0:848:2:837:26007:63 0/1:-513.975,0,-474.281:505:241:259:7921:7457 1/1:-2093.62,-230.456,0:814:4:796:24885:118 1/1:-1916.44,-220.444,0:761:3:744:23021:55 1/1:-1375.93,-149.466,0:556:5:539:16616:162 1/1:-1898.14,-209.247,0:735:4:722:22468:118 1/1:-2201.25,-243.982,0:830:1:819:26145:32 0/1:-521.235,0,-549.354:545:266:274:8232:8438 1/1:-1333.57,-144.841,0:517:4:509:16024:113 1/1:-1543.17,-177.554,0:604:1:593:18316:14 1/1:-2334.66,-246.653,0:908:10:888:27884:267 1/1:-1923.38,-214.306,0:749:3:737:23020:95 1/1:-1480.2,-170.209,0:594:2:578:17597:50 0/1:-744.204,0,-848.408:783:403:370:11520:12943 0/1:-881.436,0,-837.582:860:416:426:13355:13003 1/1:-1880.02,-209.755,0:746:6:729:22222:141 1/1:-2039.51,-220.792,0:777:4:766:24140:132 1/1:-1728.71,-198.465,0:683:2:672:20636:50 1/1:-1268.67,-143.793,0:492:2:488:15053:41 1/1:-2345.43,-251.595,0:897:7:882:27884:204 0/1:-604.277,0,-504.085:570:254:309:9186:7934 1/1:-1931.96,-215.236,0:725:0:715:22660:0 1/1:-1938.49,-211.541,0:752:5:737:22943:180 1/1:-2412.3,-273.473,0:940:2:924:28661:59 1/1:-1839.1,-206.566,0:712:3:701:21870:60 0/1:-726.628,0,-563.19:657:291:358:11165:8925 1/1:-954.914,-105.952,0:361:1:355:11287:14 1/1:-1517.94,-169.104,0:599:4:586:18179:96 1/1:-2141.16,-227.976,0:821:5:799:25511:171 0/1:-737.703,0,-854.721:784:409:360:11618:12932 1/1:-1667.74,-184.009,0:671:7:658:20262:182 1/1:-2189.45,-250.457,0:844:0:832:26053:0 0/1:-701.968,0,-705.357:706:344:348:10810:10798 . 1/1:-1463.53,-155.13,0:564:6:551:17401:141 1/1:-2117.43,-239.711,0:826:2:809:25221:50 1/1:-980.397,-114.982,0:392:1:385:11789:14 0/1:-600.442,0,-429.299:520:224:284:8921:6912 1/1:-1560.51,-182.814,0:635:2:620:18649:50 1/1:-1225.79,-137.194,0:498:4:481:14584:100 0/1:-934.668,0,-863.681:897:426:459:14283:13501 1/1:-1536.89,-173.326,0:584:1:579:18203:14 1/1:-1259.17,-139.725,0:514:5:501:15388:154 1/1:-2289.49,-252.543,0:904:7:879:27590:160 . 1/1:-1243.42,-142.833,0:498:1:484:14855:36 1/1:-1899.38,-212.249,0:728:3:721:22461:64 1/1:-1493.44,-167.055,0:566:1:558:17731:14 1/1:-1746.74,-195.854,0:676:4:664:20842:74 0/1:-832.458,0,-602.892:720:309:398:12352:9735 1/1:-2485.8,-270.323,0:930:2:916:29049:68 1/1:-2355.31,-258.505,0:922:7:899:28325:213 0/1:-457.224,0,-409.262:458:206:242:7225:6626 1/1:-1964.22,-224.045,0:758:2:747:23345:63 0/1:-884.488,0,-791.644:855:400:445:13566:12440 1/1:-1967.67,-221.236,0:755:1:738:23369:14 1/1:-2298.89,-246.15,0:872:9:854:27045:179 1/1:-1396.72,-158.944,0:534:0:528:16473:0 1/1:-1088.68,-119.072,0:431:4:421:13113:100 1/1:-1897.94,-205.724,0:727:5:712:22498:114 1/1:-2037.62,-230.726,0:807:3:794:24126:104 0/1:-890.728,0,-751.147:822:376:435:13592:11762 0/1:-713.647,0,-688.074:703:334:353:11033:10563 0/1:-655.155,0,-587.105:628:295:318:9864:9226 1/1:-1600.94,-187.542,0:627:0:623:19100:0 0/1:-579.45,0,-716.532:660:351:299:9209:10841 1/1:-2004.44,-209.524,0:786:8:763:23869:257 0/1:-353.156,0,-412.931:400:209:180:5486:6447 1/1:-1997.53,-218.069,0:797:9:773:24259:221 1/1:-2650.38,-301.62,0:1024:3:1008:31424:42 . 1/1:-2223.74,-248.72,0:859:4:845:26143:78 1/1:-1758.57,-174.01,0:698:12:674:21053:380 0/1:-808.185,0,-666.861:741:342:392:12306:10558 . 0/1:-764.059,0,-710.638:688:331:349:11249:10600:331,349 1/1:-2495.95,-259.882,0:905:4:893:28982:140:4,893 1/1:-2533.7,-261.34,0:924:6:907:29429:151:6,907 0/1:-484.092,0,-407.12:418:189:225:7031:6134:189,225 0/1:-758.47,0,-765.039:716:357:350:11365:11384:357,350 1/1:-2678.79,-282.892,0:973:3:962:31060:86:3,962 1/1:-2072.49,-219.078,0:759:3:750:24083:86:3,750 1/1:-2171.47,-213.972,0:817:11:799:25679:358:11,799 1/1:-2220.57,-237.538,0:803:2:790:25650:28:2,790 1/1:-2000.39,-190.103,0:746:12:731:23619:393:12,731 0/1:-878.898,0,-974.721:859:435:411:13218:14246:435,411 1/1:-1853.7,-193.69,0:679:3:670:21456:100:3,670 1/1:-1953.18,-208.693,0:712:2:706:22861:50:2,706 1/1:-2425.44,-259.389,0:886:3:875:28133:55:3,875 . 0/1:-858.949,0,-925.648:838:429:396:12897:13775:429,396 1/1:-2709.02,-276.425,0:995:8:979:31494:243:8,979 1/1:-2033.08,-217.589,0:738:1:726:23589:14:1,726 1/1:-2238.39,-241.426,0:809:0:802:25917:0:0,802 0/1:-842.244,0,-806.588:760:370:382:12340:12043:370,382 chr6 7574978 . ACTGTC AC 6686.19 . AB=0.402189;ABP=124.5;AC=1;AF=0.5;AN=2;AO=588;CIGAR=1M4D1M;DP=1462;DPB=1079.67;DPRA=0;EPP=3.14325;EPPR=3.24022;GTI=0;LEN=4;MEANALT=42;MQM=34.7789;MQMR=39.1778;NS=1;NUMALT=1;ODDS=1539.55;PAIRED=0.938776;PAIREDR=0.915033;PAO=14;PQA=365.5;PQR=552.5;PRO=20;QA=13414;QR=24273;RO=765;RPL=363;RPP=73.3394;RPPR=236.817;RPR=225;RUN=1;SAF=318;SAP=11.5189;SAR=270;SF=0;SRF=413;SRP=13.5725;SRR=352;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=DSP:NM_001008844:exon17:c.2388_2391del:p.T796fs,DSP:NM_004415:exon17:c.2388_2391del:p.T796fs;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-689.721,0,-1652.6:1462:765:588:13414:24273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7575506 . CTTTTTTTTTTTC CTTTTTTTTTC 4469.26 . AB=0.482051;ABP=4.64726;AC=1;AF=0.5;AN=2;AO=282;CIGAR=1M2D10M;DP=585;DPB=545.154;DPRA=0;EPP=4.11914;EPPR=5.41562;GTI=0;LEN=2;MEANALT=58;MQM=38.0709;MQMR=37.7846;NS=1;NUMALT=1;ODDS=394.012;PAIRED=0.943262;PAIREDR=0.953846;PAO=10;PQA=242;PQR=210;PRO=9;QA=7045;QR=3958;RO=130;RPL=71;RPP=153.935;RPPR=48.1769;RPR=211;RUN=1;SAF=162;SAP=16.5936;SAR=120;SF=0;SRF=70;SRP=4.68066;SRR=60;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0088;esp6500siv2_ea=0.0084;esp6500siv2_all=0.0088;esp6500siv2_ea=0.0084;1000g2015aug_all=.;avsnp147=rs777337842;Kaviar_AF=0.0018111;Kaviar_AC=280;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0022;ExAC_AMR=0.0023;ExAC_EAS=0.0018;ExAC_FIN=0.0013;ExAC_NFE=0.0018;ExAC_OTH=0;ExAC_SAS=0.0011;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.586e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=7.155e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0016;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=7.113e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-483.932,0,-195.441:585:130:282:7045:3958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7576527 . G A 14695.28 . AB=0;ABP=0;AC=197;AF=1;AN=228;AO=712;CIGAR=1X;DP=82046;DPB=731;DPRA=0;EPP=110.803;EPPR=6.91895;GTI=0;LEN=1;MEANALT=3;MQM=39.2949;MQMR=37.6;NS=1;NUMALT=1;ODDS=946.416;PAIRED=0.974719;PAIREDR=0.6;PAO=0;PQA=0;PQR=0;PRO=0;QA=20165;QR=136;RO=5;RPL=311;RPP=27.7138;RPPR=3.44459;RPR=401;RUN=1;SAF=407;SAP=34.7406;SAR=305;SF=0,1;SRF=1;SRP=6.91895;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon19:c.G2631A:p.R877R,DSP:NM_004415:exon19:c.G2631A:p.R877R;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.7481;esp6500siv2_ea=0.8024;esp6500siv2_all=0.7481;esp6500siv2_ea=0.8024;1000g2015aug_all=0.735423;avsnp147=rs1016835;Kaviar_AF=0.76891;Kaviar_AC=118875;Kaviar_AN=154602;ExAC_ALL=0.7718;ExAC_AFR=0.6447;ExAC_AMR=0.7717;ExAC_EAS=0.8046;ExAC_FIN=0.7117;ExAC_NFE=0.7998;ExAC_OTH=0.7594;ExAC_SAS=0.7461;CLNALLELEID=54044;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7710;dpsi_zscore=-1.324;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7741;gnomAD_exome_AFR=0.6421;gnomAD_exome_AMR=0.7850;gnomAD_exome_ASJ=0.8169;gnomAD_exome_EAS=0.8044;gnomAD_exome_FIN=0.7171;gnomAD_exome_NFE=0.8007;gnomAD_exome_OTH=0.7858;gnomAD_exome_SAS=0.7399;gnomAD_genome_ALL=0.7345;gnomAD_genome_AFR=0.6387;gnomAD_genome_AMR=0.7661;gnomAD_genome_ASJ=0.8444;gnomAD_genome_EAS=0.7970;gnomAD_genome_FIN=0.7140;gnomAD_genome_NFE=0.7824;gnomAD_genome_OTH=0.7628;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1720.46,-203.959,0:731:5:712:20165:136 1/1:-2121.85,-251.769,0:872:3:853:24752:78 1/1:-1877.11,-212.58,0:773:7:754:21986:195 0/1:-554.461,0,-377.998:498:204:283:8208:6030 1/1:-1835.7,-226.977,0:764:0:754:21330:0 1/1:-2139.76,-258.417,0:877:1:868:24885:36 1/1:-1821.67,-220.282,0:760:2:742:21260:41 1/1:-1865.6,-210.313,0:782:9:766:21946:261 0/1:-596.798,0,-500.533:583:263:309:8945:7768 1/1:-2118.26,-234.643,0:904:13:876:25084:397 1/1:-1651.67,-205.603,0:702:0:683:19164:0 1/1:-1868.14,-226.919,0:765:1:757:21833:14 1/1:-1762.27,-216.742,0:727:0:720:20606:0 0/1:-729.381,0,-589.583:722:320:382:10844:9323 1/1:-1593.43,-189.123,0:662:2:647:18655:72 0/1:-892.624,0,-931.043:990:482:484:13796:14099 1/1:-1530.18,-184.149,0:642:3:637:17897:95 1/1:-3416.81,-408.399,0:1402:4:1380:39902:100 1/1:-1775.93,-215.741,0:753:3:734:20921:73 1/1:-1426.46,-174.986,0:607:2:594:16825:50 1/1:-1376.51,-164.856,0:570:2:560:16070:48 1/1:-2260.37,-269.369,0:928:3:915:26358:86 0/1:-569.639,0,-421.61:537:237:288:8450:6742 1/1:-2290.28,-277.087,0:940:1:930:26542:36 1/1:-2038.85,-238.858,0:839:5:824:23607:132 0/1:-660.752,0,-573.532:684:309:358:10092:9006 1/1:-1900.64,-227.025,0:774:2:762:22034:35 1/1:-2115.36,-249.338,0:852:2:841:24635:50 0/1:-512.988,0,-526.042:595:288:285:8015:8173 1/1:-1524.2,-186.639,0:631:0:620:17825:0 1/1:-1796.07,-211.749,0:723:2:715:20879:46 1/1:-2445.84,-297.757,0:1005:1:989:28434:27 0/1:-693.521,0,-822.543:846:429:397:11000:12381 1/1:-1704.25,-206.465,0:704:2:692:19898:28 0/1:-678.772,0,-834.473:824:425:377:10669:12436 0/1:-755.32,0,-790.503:837:400:414:11573:11881 1/1:-1753.15,-205.913,0:746:7:734:20554:204 1/1:-2281.35,-259.889,0:930:6:912:26644:188 1/1:-1817.68,-218.415,0:758:3:746:21198:108 1/1:-1034.84,-121.509,0:444:4:433:12252:112 1/1:-2253.36,-269.96,0:937:3:919:26293:86 0/1:-587.892,0,-546.865:623:288:315:8919:8342 1/1:-1795.64,-215.828,0:730:1:720:20858:14 1/1:-1916.22,-218.837,0:806:9:788:22693:237 1/1:-2785.01,-328.046,0:1137:6:1122:32490:137 1/1:-1845.13,-228.055,0:778:2:764:21760:35 0/1:-592.489,0,-853.454:788:428:338:9651:12434 0/1:-445.024,0,-420.564:471:217:231:6633:6439 1/1:-1591.96,-193.863,0:651:0:644:18507:0 1/1:-2175.58,-258.624,0:904:4:886:25265:107 1/1:-2140.4,-255.095,0:874:2:860:24901:50 1/1:-2017.85,-243.59,0:862:6:842:23748:131 1/1:-2335.82,-281.191,0:961:3:950:27178:64 0/1:-751.587,0,-708.19:785:375:392:11490:10883 1/1:-1379.78,-174.241,0:593:1:582:16281:14 1/1:-1642.14,-194.316,0:665:1:654:18998:32 1/1:-1878.95,-227.096,0:783:3:770:22033:64 1/1:-1319.73,-156.815,0:551:2:540:15520:72 0/1:-464.881,0,-611.375:581:321:245:7388:9238 0/1:-632.972,0,-656.803:693:339:338:9746:9876 1/1:-1402.23,-173.849,0:601:1:586:16517:32 0/1:-932.271,0,-874.361:969:461:482:14050:13441 0/1:-580.982,0,-638.35:653:328:307:8999:9543 0/1:-529.438,0,-588.729:640:314:302:8329:8944 1/1:-2505.66,-298.262,0:1013:3:997:29274:42 1/1:-1962.58,-230.284,0:796:2:783:22649:68 1/1:-1091.96,-137.934,0:477:2:471:13053:50 1/1:-2112.77,-253.004,0:861:1:850:24566:36 1/1:-1371.55,-165.511,0:558:1:553:15925:14 1/1:-1904.14,-232.078,0:802:2:790:22202:72 1/1:-1775.19,-217.59,0:738:1:726:20747:14 1/1:-2372.61,-277.962,0:974:4:953:27752:114 1/1:-2492.42,-290.978,0:1023:5:1003:29235:150 0/1:-409.838,0,-440.795:535:249:260:6702:6782 1/1:-1939.07,-233.599,0:786:0:776:22542:0 1/1:-2030.17,-250.156,0:846:0:831:23819:0 1/1:-1868.58,-232.997,0:785:0:774:21841:0 1/1:-2288.47,-269.124,0:948:4:930:26746:136 1/1:-1297.59,-154.026,0:524:2:517:15000:48 1/1:-1506.11,-179.688,0:615:2:602:17584:35 1/1:-1984.73,-238.589,0:829:4:813:23268:106 1/1:-2296.66,-279.954,0:949:2:939:26827:50 0/1:-835.7,0,-805.048:898:436:436:12840:12376 0/1:-773.981,0,-694.023:806:368:408:11759:10821 1/1:-1734.16,-207.468,0:732:4:712:20382:91 1/1:-1618.57,-183.12,0:661:5:645:18978:141 0/1:-579.385,0,-636.908:692:346:316:9084:9834 1/1:-1965.48,-233.976,0:825:5:809:23261:123 0/1:-422.177,0,-467.813:498:247:240:6677:7120 1/1:-2014.83,-238.341,0:831:4:821:23488:113 1/1:-2824.77,-347.69,0:1169:0:1155:32910:0 . 1/1:-2450.97,-289.285,0:991:2:979:28420:68 1/1:-1842.65,-222.088,0:753:2:744:21498:28 0/1:-602.049,0,-863.211:821:446:350:9731:12714 . 0/1:-467.662,0,-369.866:406:185:216:6756:5651:185,216 1/1:-1251.72,-137.195,0:472:2:466:14570:41:2,466 1/1:-1603.87,-175.64,0:602:1:593:18622:36:1,593 0/1:-352.882,0,-258.682:291:128:161:5045:3944:128,161 0/1:-429.694,0,-452.576:423:211:205:6461:6647:211,205 1/1:-1705.99,-183.581,0:633:2:623:19786:53:2,623 1/1:-1247.46,-136.544,0:465:2:458:14527:46:2,458 1/1:-1382.19,-140.803,0:521:6:512:16157:178:6,512 1/1:-1518.27,-162.38,0:564:2:555:17564:59:2,555 1/1:-1000.65,-102.835,0:391:5:382:11731:154:5,382 0/1:-599.943,0,-493.965:531:238:283:8723:7455:238,283 1/1:-1074.52,-114.138,0:399:3:393:12402:64:3,393 1/1:-1219.47,-131.312,0:447:1:442:14096:32:1,442 1/1:-1220.67,-134.394,0:463:1:456:14178:36:1,456 0/1:-584.934,0,-484.287:513:236:268:8456:7346:236,268 0/1:-532.515,0,-377.108:461:200:252:7815:5958:200,252 1/1:-1585.24,-173.209,0:602:2:590:18255:68:2,590 1/1:-1183.94,-131.231,0:447:1:439:13676:14:1,439 1/1:-1289.74,-142.335,0:483:1:480:14818:27:1,480 1/1:-1282.08,-139.484,0:477:1:473:14838:36:1,473 chr6 7576580 . A G 8560.15 . AB=0.514412;ABP=4.6377;AC=1;AF=0.5;AN=2;AO=464;CIGAR=1X;DP=902;DPB=902;DPRA=0;EPP=97.3758;EPPR=19.4558;GTI=0;LEN=1;MEANALT=3;MQM=38.9203;MQMR=38.9347;NS=1;NUMALT=1;ODDS=1966.24;PAIRED=0.963362;PAIREDR=0.979021;PAO=0;PQA=0;PQR=0;PRO=0;QA=13402;QR=13358;RO=429;RPL=229;RPP=3.17878;RPPR=3.05586;RPR=235;RUN=1;SAF=208;SAP=13.7928;SAR=256;SF=0;SRF=203;SRP=5.68794;SRR=226;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon19:c.A2684G:p.Y895C,DSP:NM_004415:exon19:c.A2684G:p.Y895C;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs367752002;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0.0005;CLNALLELEID=173991;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.087;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.747;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.993;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=1.67;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_pred=D;VEST3_score=0.835;CADD_raw=4.905;CADD_phred=24.9;DANN_score=0.998;fathmm-MKL_coding_score=0.872;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.031;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=6.02;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.398;GDI_full_10282015=.;dpsi_max_tissue=-1.3731;dpsi_zscore=-1.662;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.275e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.661e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-874.844,0,-863.961:902:429:464:13402:13358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7576619 . G A 6812.42 . AB=0.485994;ABP=4.22681;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=714;DPB=714;DPRA=0;EPP=8.27315;EPPR=17.0639;GTI=0;LEN=1;MEANALT=3;MQM=39.2738;MQMR=39.5618;NS=1;NUMALT=1;ODDS=1568.62;PAIRED=0.956772;PAIREDR=0.966292;PAO=0;PQA=0;PQR=0;PRO=0;QA=10545;QR=11122;RO=356;RPL=184;RPP=5.77001;RPPR=4.98658;RPR=163;RUN=1;SAF=158;SAP=9.02409;SAR=189;SF=0;SRF=171;SRP=4.20583;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon19:c.G2723A:p.R908H,DSP:NM_004415:exon19:c.G2723A:p.R908H;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0015;1000g2015aug_all=.;avsnp147=rs142494121;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0002;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0033;ExAC_SAS=0.0005;CLNALLELEID=173850;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.72;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.795;MutationAssessor_pred=L;FATHMM_score=1.96;FATHMM_pred=T;PROVEAN_score=-2.71;PROVEAN_pred=D;VEST3_score=0.331;CADD_raw=7.211;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.021;MetaSVM_pred=T;MetaLR_score=0.103;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.454;GDI_full_10282015=.;dpsi_max_tissue=-0.2550;dpsi_zscore=-0.784;hgmdCODING=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#21606390;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM114459#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0064;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-690.295,0,-736.164:714:356:347:10545:11122 . . . . . . . . . . . . . . . . . . . . . . chr6 7576670 . G A 5230.59 . AB=0.445364;ABP=18.6708;AC=1;AF=0.5;AN=2;AO=269;CIGAR=1X;DP=604;DPB=604;DPRA=0;EPP=10.7679;EPPR=32.3859;GTI=0;LEN=1;MEANALT=3;MQM=39.9814;MQMR=40.8168;NS=1;NUMALT=1;ODDS=1204.39;PAIRED=0.97026;PAIREDR=0.978261;PAO=0;PQA=0;PQR=0;PRO=0;QA=8290;QR=9896;RO=322;RPL=151;RPP=11.8011;RPPR=3.1182;RPR=118;RUN=1;SAF=115;SAP=15.2884;SAR=154;SF=0;SRF=141;SRP=13.8002;SRR=181;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon19:c.G2774A:p.R925Q,DSP:NM_004415:exon19:c.G2774A:p.R925Q;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs139799237;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=9.714e-05;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0.0005;CLNALLELEID=197057;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.174;SIFT_pred=T;Polyphen2_HDIV_score=0.384;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.564;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=2.02;FATHMM_pred=T;PROVEAN_score=0.16;PROVEAN_pred=N;VEST3_score=0.336;CADD_raw=4.631;CADD_phred=24.5;DANN_score=0.999;fathmm-MKL_coding_score=0.899;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.084;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.98;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=16.176;GDI_full_10282015=.;dpsi_max_tissue=-1.4610;dpsi_zscore=-1.699;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=9.687e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-534.395,0,-682.206:604:322:269:8290:9896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7577260 . C T 7912.85 . AB=0.518882;ABP=7.11051;AC=42;AF=0.5;AN=82;AO=687;CIGAR=1X;DP=34041;DPB=1324;DPRA=0;EPP=118.32;EPPR=100.302;GTI=0;LEN=1;MEANALT=3;MQM=40.2329;MQMR=40.6088;NS=1;NUMALT=1;ODDS=2442.79;PAIRED=0.985444;PAIREDR=0.98145;PAO=0;PQA=0;PQR=0;PRO=0;QA=19855;QR=16995;RO=593;RPL=268;RPP=75.0798;RPPR=58.4103;RPR=419;RUN=1;SAF=266;SAP=78.9486;SAR=421;SF=0,1;SRF=214;SRP=102.704;SRR=379;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon20:c.C2862T:p.C954C,DSP:NM_004415:exon20:c.C2862T:p.C954C;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.2688;esp6500siv2_ea=0.2159;esp6500siv2_all=0.2688;esp6500siv2_ea=0.2159;1000g2015aug_all=0.27516;avsnp147=rs2064217;Kaviar_AF=0.238263;Kaviar_AC=36836;Kaviar_AN=154602;ExAC_ALL=0.2438;ExAC_AFR=0.3731;ExAC_AMR=0.2569;ExAC_EAS=0.1953;ExAC_FIN=0.2513;ExAC_NFE=0.2210;ExAC_OTH=0.2744;ExAC_SAS=0.2659;CLNALLELEID=54053;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6228;dpsi_zscore=-1.206;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2394;gnomAD_exome_AFR=0.3721;gnomAD_exome_AMR=0.2390;gnomAD_exome_ASJ=0.2307;gnomAD_exome_EAS=0.1938;gnomAD_exome_FIN=0.2507;gnomAD_exome_NFE=0.2193;gnomAD_exome_OTH=0.2411;gnomAD_exome_SAS=0.2673;gnomAD_genome_ALL=0.2733;gnomAD_genome_AFR=0.3759;gnomAD_genome_AMR=0.2440;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0.2015;gnomAD_genome_FIN=0.2560;gnomAD_genome_NFE=0.2309;gnomAD_genome_OTH=0.2342;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1333.05,0,-1095.99:1324:593:687:19855:16995 . 0/1:-767.418,0,-620.767:752:334:394:11291:9663 . . . . 0/1:-767.634,0,-804.59:867:439:407:11842:12182 . . . . 0/1:-945.647,0,-828.834:965:449:492:14124:12864 . . . . . . . . 0/1:-871.539,0,-680.953:868:387:453:12999:10813 . . 0/1:-736.843,0,-990.474:981:529:425:11885:14762 0/1:-1041.81,0,-937.528:1059:515:521:15531:14295 0/1:-1003.62,0,-1106.99:1126:565:533:15288:16488 0/1:-793.507,0,-790.024:897:431:425:12092:12070 . . . 1/1:-2890.27,-298.862,0:1209:25:1165:33970:675 . 0/1:-959.059,0,-1097.62:1131:577:516:14715:16322 . . . 0/1:-1002.35,0,-1046.79:1143:561:544:15488:15893 . . 0/1:-812.342,0,-753.504:863:398:424:12341:11456 0/1:-969.934,0,-1020.85:1056:531:501:14618:15189 . . . 0/1:-951.807,0,-904.849:1048:509:510:14428:13885 0/1:-601.696,0,-562.076:627:295:314:9094:8560 . . . . . . . 0/1:-739.633,0,-773.705:827:414:387:11245:11642 . 0/1:-552.41,0,-718.121:711:382:302:8720:10690 0/1:-680.05,0,-789.7:806:409:371:10546:11678 0/1:-930.97,0,-1127.06:1110:590:483:14431:16628 . 0/1:-1179.94,0,-1194.61:1265:622:613:17821:17866 0/1:-841.87,0,-957.408:952:487:435:12967:14192 0/1:-870.664,0,-753.479:915:417:462:13143:11658 . . . . . . . . 0/1:-1015.07,0,-1555.66:1422:792:589:16549:22633 0/1:-648.114,0,-804.11:882:449:404:10508:12216 . 0/1:-1204.85,0,-1260.16:1345:661:649:18591:18968 . . . . 0/1:-1008.02,0,-951.447:1090:505:548:15496:14618 . 0/1:-1175.94,0,-1070.51:1233:571:625:17800:16569 . 0/1:-782.525,0,-919.195:965:494:444:12350:13825 . . . 0/1:-588.326,0,-646.662:674:337:308:9049:9624 . 0/1:-1301.83,0,-1325.03:1395:686:668:19765:19902 0/1:-708.526,0,-858.213:849:440:385:11036:12789 . . . . 0/1:-113.747,0,-222.292:168:103:62:1891:3091:103,62 . 0/1:-151.27,0,-309.612:221:135:81:2462:4285:135,81 0/1:-61.9008,0,-119.298:91:56:34:1053:1668:56,34 0/1:-173.244,0,-244.852:206:117:87:2723:3573:117,87 0/1:-192.922,0,-295.405:245:136:102:3070:4259:136,102 . . . . 0/1:-147.757,0,-279.885:209:129:77:2395:3890:129,77 0/1:-142.993,0,-215.461:176:101:74:2240:3081:101,74 . . . 0/1:-203.671,0,-194.126:197:95:95:3005:2859:95,95 . . . 0/1:-202.956,0,-131.893:171:69:98:2970:2105:69,98 chr6 7578819 . TAGCG GAGCA 15724.24 . AB=0;ABP=0;AC=197;AF=1;AN=228;AO=751;CIGAR=1X3M1X;DP=97145;DPB=848.2;DPRA=0;EPP=65.4915;EPPR=0;GTI=0;LEN=5;MEANALT=23;MQM=39.8003;MQMR=0;NS=1;NUMALT=1;ODDS=1052.42;PAIRED=0.976032;PAIREDR=0;PAO=12;PQA=346;PQR=0;PRO=0;QA=20683;QR=0;RO=0;RPL=384;RPP=3.84593;RPPR=0;RPR=367;RUN=1;SAF=312;SAP=49.6464;SAR=439;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.004573;Kaviar_AC=707;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1819.67,-229.686,0:843:0:751:20683:0 1/1:-2469.15,-308.857,0:1107:0:989:27350:0 1/1:-1960.93,-234.482,0:886:5:791:22099:121 0/1:-542.044,0,-494.495:607:246:290:7893:7208 1/1:-2009.31,-258.174,0:942:0:846:22679:0 1/1:-2225.85,-279.055,0:1024:0:912:25029:0 1/1:-1813.17,-223.504,0:844:2:741:20264:65 1/1:-2059.44,-238.992,0:982:13:861:23259:362 0/1:-683.204,0,-765.736:795:351:361:10174:10775 1/1:-2280.7,-266.305,0:1052:10:938:25515:317 1/1:-1856.73,-237.212,0:869:0:780:21128:0 1/1:-1924.63,-242.008,0:910:2:787:21415:54 1/1:-1685.66,-204.813,0:781:4:691:19044:114 0/1:-737.345,0,-783.735:873:372:407:10953:11256 1/1:-1717.66,-216.305,0:792:1:711:19243:32 0/1:-855.946,0,-1431.81:1276:654:493:13421:19660 1/1:-1832.06,-230.89,0:870:0:755:20747:0 1/1:-3425.04,-402.136,0:1547:11:1383:38536:315 1/1:-2089.65,-251.124,0:965:5:857:23553:151 1/1:-1423.18,-174.504,0:652:2:576:15909:48 1/1:-1368.01,-174.112,0:664:1:575:15492:29 1/1:-2352.88,-288.775,0:1067:2:949:26128:71 0/1:-470.423,0,-574.958:633:277:268:7268:8128 1/1:-2339.64,-296.825,0:1057:0:941:25513:0 1/1:-2101.67,-259.595,0:949:1:845:23373:35 0/1:-781.749,0,-731.499:864:360:401:11191:10720 1/1:-1749.06,-211.859,0:804:4:723:19774:130 1/1:-2166.65,-259.573,0:962:4:856:23837:128 0/1:-541.304,0,-710.764:725:344:307:8314:10016 1/1:-1343.8,-169.335,0:628:1:551:15013:15 1/1:-1864.95,-231.959,0:861:1:752:20727:32 1/1:-2766.7,-327.447,0:1253:8:1119:31003:245 0/1:-852.302,0,-908.675:997:426:448:12479:12773 1/1:-1822.03,-228.949,0:839:0:745:20354:0 0/1:-727.546,0,-1008.31:973:456:413:11150:13759 0/1:-956.265,0,-1025.17:1140:488:527:14475:14675 1/1:-1962.08,-237.315,0:895:4:813:22216:127 1/1:-2114.82,-256.288,0:982:4:871:24132:124 1/1:-2050.79,-259.782,0:926:1:834:22972:33 1/1:-1318.53,-170.383,0:628:0:550:14750:0 1/1:-2514.51,-301.511,0:1139:7:1014:28094:212 0/1:-726.621,0,-803.307:837:376:384:10681:11212 1/1:-2101.58,-263.1,0:947:0:850:23248:0 1/1:-2104.09,-237.452,0:962:10:854:23853:339 1/1:-2880.12,-350.439,0:1272:4:1162:32335:115 1/1:-2130.7,-273.335,0:981:0:886:23988:0 0/1:-660.515,0,-1040.03:976:477:381:10301:14340 0/1:-371.2,0,-505.656:488:226:201:5627:6818 1/1:-1678.86,-209.468,0:789:2:688:18846:51 1/1:-2171.58,-263.456,0:967:3:871:24182:96 1/1:-2048.43,-241.905,0:930:5:828:23085:161 1/1:-1883.34,-238.922,0:899:3:795:21389:82 1/1:-2342.18,-288.019,0:1060:3:953:26147:81 0/1:-928.332,0,-976.848:1075:471:497:13597:14181 1/1:-1554.82,-198.981,0:737:0:641:17451:0 1/1:-1571.88,-195.67,0:688:0:625:17331:0 1/1:-2006.52,-254.837,0:935:0:832:22486:0 1/1:-1221.34,-147.925,0:584:4:515:13874:131 0/1:-661.366,0,-706.602:765:333:354:9800:9963 0/1:-784.87,0,-836.934:928:415:415:11621:12104 1/1:-1459.8,-185.211,0:700:1:610:16575:26 0/1:-843.479,0,-947.888:1039:455:454:12650:13578 0/1:-708.407,0,-684.642:779:313:378:10363:9570 0/1:-571.834,0,-664.966:720:319:316:8524:9532 1/1:-2551.04,-306.953,0:1155:5:1036:28733:145 1/1:-2002.5,-255.574,0:935:0:832:22509:0 1/1:-1281.33,-164.748,0:613:1:541:14412:33 1/1:-2382.19,-290.507,0:1102:4:992:26961:101 1/1:-1605.99,-201.389,0:741:0:660:18073:0 1/1:-1942.75,-229.655,0:909:7:811:22465:220 1/1:-1805.96,-219.571,0:839:4:744:20353:117 1/1:-2566.94,-319.694,0:1149:0:1049:29049:0 1/1:-2309.56,-268.871,0:1059:8:942:26112:262 0/1:-472.393,0,-545.349:673:290:290:7426:8035 1/1:-2058.87,-249.986,0:900:1:823:23325:22 1/1:-2156.28,-271.529,0:985:0:869:23817:0 1/1:-2162.07,-266.719,0:987:1:876:24358:34 1/1:-2466.49,-301.488,0:1158:6:1021:27899:176 1/1:-1371.45,-172.076,0:615:0:552:15143:0 1/1:-1268.12,-160.887,0:599:1:528:14260:26 1/1:-2163.4,-267.95,0:1000:4:891:23981:118 1/1:-2420.98,-297.418,0:1067:0:969:27292:0 0/1:-949.463,0,-960.055:1113:464:518:14223:13842 0/1:-817.483,0,-868.794:951:406:440:12334:12238 1/1:-1765.27,-209.813,0:848:6:731:19806:192 1/1:-1677,-199.104,0:762:3:673:18737:92 0/1:-661.712,0,-791.198:828:376:364:10032:11170 1/1:-2168.35,-269.112,0:1004:3:901:24518:74 0/1:-450.407,0,-548.6:590:264:255:6823:7853 1/1:-2137.5,-257.334,0:976:7:868:23796:186 1/1:-2787.86,-346.787,0:1220:0:1094:30730:0 . 1/1:-2350.62,-281.077,0:1065:5:947:26508:150 1/1:-1900.12,-238.125,0:869:0:775:21184:0 0/1:-832.859,0,-1141.08:1117:530:473:12731:15972 . 0/1:-618.428,0,-639.776:608:296:278:8744:9241:296,278 1/1:-1726.11,-180.821,0:659:4:611:19145:123:4,611 1/1:-1793.09,-192.515,0:676:1:624:19840:36:1,624 0/1:-330.18,0,-419.925:367:189:154:4859:5963:189,154 0/1:-472.574,0,-657.456:567:298:223:6998:9275:298,223 1/1:-1893,-194.543,0:726:6:674:21186:189:6,674 1/1:-1357.73,-144.279,0:540:2:493:15490:71:2,493 1/1:-1527.82,-155.7,0:612:6:553:17182:204:6,553 1/1:-1659.75,-178.359,0:639:3:599:18629:97:3,599 1/1:-1351.9,-141.155,0:521:3:481:15218:99:3,481 0/1:-702.509,0,-678.038:677:320:316:9966:9915:320,316 1/1:-1265.73,-135.354,0:496:2:454:14222:70:2,454 1/1:-1407.23,-153.099,0:541:1:507:15812:35:1,507 1/1:-1662.96,-180.317,0:624:0:586:18608:0:0,586 0/1:-542.722,0,-595.644:564:279:250:7807:8630:279,250 0/1:-536.22,0,-660.219:613:299:254:7911:9462:299,254 1/1:-1797.74,-192.992,0:677:1:634:20230:30:1,634 1/1:-1421.87,-154.127,0:531:0:503:16063:0:0,503 1/1:-1397.85,-152.622,0:524:0:492:15687:0:0,492 1/1:-1311.35,-143.29,0:493:0:459:14463:0:0,459 chr6 7580197 . C A 6091.29 . AB=0.456604;ABP=16.0146;AC=1;AF=0.5;AN=2;AO=363;CIGAR=1X;DP=795;DPB=795;DPRA=0;EPP=90.593;EPPR=86.599;GTI=0;LEN=1;MEANALT=3;MQM=38.9366;MQMR=38.6611;NS=1;NUMALT=1;ODDS=1402.57;PAIRED=0.988981;PAIREDR=0.961814;PAO=0;PQA=0;PQR=0;PRO=0;QA=10123;QR=12023;RO=419;RPL=213;RPP=26.7529;RPPR=35.3544;RPR=150;RUN=1;SAF=158;SAP=16.2246;SAR=205;SF=0;SRF=197;SRP=6.24937;SRR=222;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.C3774A:p.D1258E;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs748733750;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.497e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.548e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=522213;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma;CLNDISDB=MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.296;SIFT_pred=T;Polyphen2_HDIV_score=0.39;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.132;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-2.73;FATHMM_pred=D;PROVEAN_score=0.0;PROVEAN_pred=N;VEST3_score=0.736;CADD_raw=0.576;CADD_phred=7.988;DANN_score=0.870;fathmm-MKL_coding_score=0.858;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.571;MetaSVM_pred=T;MetaLR_score=0.279;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.42;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.070;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=6.091;GDI_full_10282015=.;dpsi_max_tissue=-0.3794;dpsi_zscore=-0.959;hgmdCODING=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#21723241;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM115367#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=1.221e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.698e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-630.283,0,-790.043:795:419:363:10123:12023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7580243 . G C 5845.92 . AB=0.444584;ABP=24.189;AC=1;AF=0.5;AN=2;AO=353;CIGAR=1X;DP=794;DPB=794;DPRA=0;EPP=6.26443;EPPR=3.26546;GTI=0;LEN=1;MEANALT=3;MQM=36.7677;MQMR=38.1511;NS=1;NUMALT=1;ODDS=1346.07;PAIRED=0.954674;PAIREDR=0.956835;PAO=0;PQA=0;PQR=0;PRO=0;QA=10097;QR=12874;RO=417;RPL=125;RPP=68.2714;RPPR=97.9146;RPR=228;RUN=1;SAF=114;SAP=99.1272;SAR=239;SF=0;SRF=123;SRP=155.279;SRR=294;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G3820C:p.A1274P;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.735;Polyphen2_HVAR_pred=P;LRT_score=0.006;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=-2.96;FATHMM_pred=D;PROVEAN_score=-2.83;PROVEAN_pred=D;VEST3_score=0.409;CADD_raw=3.491;CADD_phred=23.1;DANN_score=0.995;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_pred=D;MetaSVM_score=0.356;MetaSVM_pred=D;MetaLR_score=0.682;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.17;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=12.715;GDI_full_10282015=.;dpsi_max_tissue=0.5815;dpsi_zscore=1.211;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-610.126,0,-836.654:794:417:353:10097:12874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7580386 . G A 6266.86 . AB=0.47644;ABP=5.77296;AC=4;AF=0.5;AN=8;AO=273;CIGAR=1X;DP=3006;DPB=573;DPRA=0;EPP=3.97275;EPPR=6.32386;GTI=0;LEN=1;MEANALT=3;MQM=37.5788;MQMR=38.0934;NS=1;NUMALT=1;ODDS=1129.3;PAIRED=0.930403;PAIREDR=0.944637;PAO=0;PQA=0;PQR=0;PRO=0;QA=8200;QR=8308;RO=289;RPL=76;RPP=119.466;RPPR=79.658;RPR=197;RUN=1;SAF=143;SAP=4.35454;SAR=130;SF=0,1;SRF=158;SRP=8.48782;SRR=131;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G3963A:p.Q1321Q;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0149;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0149;1000g2015aug_all=0.00579073;avsnp147=rs61731476;Kaviar_AF=0.0135186;Kaviar_AC=2090;Kaviar_AN=154602;ExAC_ALL=0.0139;ExAC_AFR=0.0031;ExAC_AMR=0.0095;ExAC_EAS=0;ExAC_FIN=0.0165;ExAC_NFE=0.0192;ExAC_OTH=0.0078;ExAC_SAS=0.0084;CLNALLELEID=54064;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3623;dpsi_zscore=-0.938;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0129;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0108;gnomAD_exome_ASJ=0.0097;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0154;gnomAD_exome_NFE=0.0178;gnomAD_exome_OTH=0.0183;gnomAD_exome_SAS=0.0084;gnomAD_genome_ALL=0.0121;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0183;gnomAD_genome_NFE=0.0175;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:-510.214,0,-524.854:573:289:273:8200:8308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-693.483,0,-667.509:711:342:357:10729:10465 . . . . . . . . . 0/1:-623.255,0,-872.145:844:457:363:10544:13609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-826.925,0,-945.553:878:450:408:12631:13901:450,408 . . . . . chr6 7580806 . G A 6002.90 . AB=0.439866;ABP=31.2153;AC=1;AF=0.5;AN=2;AO=395;CIGAR=1X;DP=898;DPB=898;DPRA=0;EPP=13.175;EPPR=86.6844;GTI=0;LEN=1;MEANALT=3;MQM=37.6025;MQMR=37.1271;NS=1;NUMALT=1;ODDS=1382.22;PAIRED=0.972152;PAIREDR=0.96875;PAO=0;PQA=0;PQR=0;PRO=0;QA=10721;QR=15047;RO=480;RPL=157;RPP=39.0787;RPPR=63.8839;RPR=238;RUN=1;SAF=290;SAP=191.159;SAR=105;SF=0;SRF=356;SRP=246.505;SRR=124;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G4383A:p.E1461E;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0022;1000g2015aug_all=.;avsnp147=rs140029036;Kaviar_AF=0.0019534;Kaviar_AC=302;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0006;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0030;ExAC_OTH=0.0022;ExAC_SAS=0.0003;CLNALLELEID=54074;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0080;dpsi_zscore=0.054;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0035;gnomAD_exome_OTH=0.0016;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-633.999,0,-956.949:898:480:395:10721:15047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7580958 . A G 8978.68 . AB=0.467317;ABP=12.5203;AC=7;AF=0.5;AN=14;AO=479;CIGAR=1X;DP=8021;DPB=1025;DPRA=0;EPP=93.1377;EPPR=140.241;GTI=0;LEN=1;MEANALT=3;MQM=37.7871;MQMR=38.4832;NS=1;NUMALT=1;ODDS=1761.72;PAIRED=0.964509;PAIREDR=0.978304;PAO=0;PQA=0;PQR=0;PRO=0;QA=13002;QR=14825;RO=507;RPL=201;RPP=29.8885;RPPR=12.4714;RPR=278;RUN=1;SAF=184;SAP=58.8656;SAR=295;SF=0,1;SRF=184;SRP=85.7618;SRR=323;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.A4535G:p.Y1512C;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.1209;esp6500siv2_ea=0.0442;esp6500siv2_all=0.1209;esp6500siv2_ea=0.0442;1000g2015aug_all=0.203275;avsnp147=rs2076299;Kaviar_AF=0.109785;Kaviar_AC=16973;Kaviar_AN=154602;ExAC_ALL=0.1156;ExAC_AFR=0.2938;ExAC_AMR=0.2244;ExAC_EAS=0.2954;ExAC_FIN=0.0625;ExAC_NFE=0.0455;ExAC_OTH=0.0886;ExAC_SAS=0.1400;CLNALLELEID=54082;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.179;SIFT_pred=T;Polyphen2_HDIV_score=0.454;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.237;Polyphen2_HVAR_pred=B;LRT_score=0.132;LRT_pred=N;MutationTaster_score=0.825;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.46;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_pred=N;VEST3_score=0.157;CADD_raw=0.670;CADD_phred=8.631;DANN_score=0.921;fathmm-MKL_coding_score=0.582;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.089;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.8;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.889;SiPhy_29way_logOdds=5.571;GDI_full_10282015=.;dpsi_max_tissue=-0.0353;dpsi_zscore=-0.194;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150220#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1174;gnomAD_exome_AFR=0.2971;gnomAD_exome_AMR=0.2273;gnomAD_exome_ASJ=0.0840;gnomAD_exome_EAS=0.2932;gnomAD_exome_FIN=0.0633;gnomAD_exome_NFE=0.0418;gnomAD_exome_OTH=0.0859;gnomAD_exome_SAS=0.1384;gnomAD_genome_ALL=0.1301;gnomAD_genome_AFR=0.2851;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0728;gnomAD_genome_EAS=0.2909;gnomAD_genome_FIN=0.0641;gnomAD_genome_NFE=0.0382;gnomAD_genome_OTH=0.0866;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-790.635,0,-951.594:1025:507:479:13002:14825 . . . . . . . . 0/1:-661.175,0,-601.785:725:333:369:10468:9692 . . . . . . . . . . 0/1:-910.144,0,-1142.22:1166:595:537:15091:17543 . . . . . . . . . . . . . 0/1:-1048,0,-1463.8:1432:755:627:17372:22597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-961.249,0,-1211.93:1251:631:574:15565:18798 . . . . . . . . . . . . . . . . . 0/1:-990.857,0,-1380.22:1167:636:510:15397:19962:636,510 0/1:-1342.71,0,-1244.07:1255:585:645:19769:18671:585,645 . . . chr6 7581032 . C T 6940.86 . AB=0.462079;ABP=11.9036;AC=3;AF=0.5;AN=6;AO=329;CIGAR=1X;DP=2548;DPB=712;DPRA=0;EPP=99.6441;EPPR=43.3318;GTI=0;LEN=1;MEANALT=3;MQM=33.9726;MQMR=35.973;NS=1;NUMALT=1;ODDS=1177.17;PAIRED=0.908815;PAIREDR=0.913747;PAO=0;PQA=0;PQR=0;PRO=0;QA=9793;QR=11627;RO=371;RPL=214;RPP=67.6991;RPPR=75.1254;RPR=115;RUN=1;SAF=119;SAP=57.6667;SAR=210;SF=0;SRF=130;SRP=75.1254;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.C4609T:p.R1537C;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0143;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0143;1000g2015aug_all=0.00359425;avsnp147=rs28763967;Kaviar_AF=0.0096053;Kaviar_AC=1485;Kaviar_AN=154602;ExAC_ALL=0.0091;ExAC_AFR=0.0026;ExAC_AMR=0.0075;ExAC_EAS=0;ExAC_FIN=0.0045;ExAC_NFE=0.0142;ExAC_OTH=0.0101;ExAC_SAS=0.0007;CLNALLELEID=54084;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Sudden_unexplained_death|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0520806|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-0.87;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_pred=N;VEST3_score=0.328;CADD_raw=5.054;CADD_phred=25.2;DANN_score=0.999;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.245;MetaSVM_pred=T;MetaLR_score=0.393;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.85;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.959;phastCons20way_mammalian=0.884;SiPhy_29way_logOdds=15.812;GDI_full_10282015=.;dpsi_max_tissue=-0.0074;dpsi_zscore=-0.020;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150221#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0087;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0068;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0044;gnomAD_exome_NFE=0.0152;gnomAD_exome_OTH=0.0114;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0087;gnomAD_genome_AFR=0.0034;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0133;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-540.83,0,-722.969:712:371:329:9793:11627 . . . . . . 0/1:-977.648,0,-1153.19:1090:548:528:15717:17564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-655.505,0,-725.181:746:366:369:10849:11696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7581196 . G A 6762.82 . AB=0.43744;ABP=38.6021;AC=4;AF=0.5;AN=8;AO=458;CIGAR=1X;DP=3603;DPB=1047;DPRA=0;EPP=23.663;EPPR=47.3715;GTI=0;LEN=1;MEANALT=3;MQM=35.2904;MQMR=36.4382;NS=1;NUMALT=1;ODDS=1653.32;PAIRED=0.938865;PAIREDR=0.941818;PAO=0;PQA=0;PQR=0;PRO=0;QA=12892;QR=16306;RO=550;RPL=238;RPP=4.54645;RPPR=3.26298;RPR=220;RUN=1;SAF=244;SAP=7.27739;SAR=214;SF=0;SRF=305;SRP=17.2236;SRR=245;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G4773A:p.R1591R;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0131;esp6500siv2_ea=0.0174;esp6500siv2_all=0.0131;esp6500siv2_ea=0.0174;1000g2015aug_all=0.0071885;avsnp147=rs28763968;Kaviar_AF=0.013635;Kaviar_AC=2108;Kaviar_AN=154602;ExAC_ALL=0.0135;ExAC_AFR=0.0043;ExAC_AMR=0.0102;ExAC_EAS=0;ExAC_FIN=0.0219;ExAC_NFE=0.0193;ExAC_OTH=0.0157;ExAC_SAS=0.0017;CLNALLELEID=44685;CLNDN=Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0457;dpsi_zscore=-0.245;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0140;gnomAD_exome_AFR=0.0036;gnomAD_exome_AMR=0.0129;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0217;gnomAD_exome_NFE=0.0192;gnomAD_exome_OTH=0.0196;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0132;gnomAD_genome_AFR=0.0032;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0235;gnomAD_genome_NFE=0.0175;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-730.386,0,-1012.13:1047:550:458:12892:16306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-622.744,0,-770.113:833:427:382:10643:12590 . . . . . . . . . . . . . 0/1:-875.678,0,-1080.82:1136:574:525:14891:17228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-521.277,0,-465.787:587:262:308:8599:7971 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7581636 . G A 5443.77 . AB=0.47651;ABP=5.15263;AC=23;AF=0.5;AN=46;AO=213;CIGAR=1X;DP=13637;DPB=447;DPRA=0;EPP=20.1476;EPPR=6.88793;GTI=0;LEN=1;MEANALT=3;MQM=37.8732;MQMR=38.8527;NS=1;NUMALT=1;ODDS=901.104;PAIRED=0.99061;PAIREDR=0.946429;PAO=0;PQA=0;PQR=0;PRO=0;QA=6458;QR=7106;RO=224;RPL=102;RPP=3.83607;RPPR=27.2455;RPR=111;RUN=1;SAF=121;SAP=11.584;SAR=92;SF=0,1;SRF=131;SRP=17.0085;SRR=93;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G5213A:p.R1738Q;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.1941;esp6500siv2_ea=0.1257;esp6500siv2_all=0.1941;esp6500siv2_ea=0.1257;1000g2015aug_all=0.240415;avsnp147=rs6929069;Kaviar_AF=0.167656;Kaviar_AC=25920;Kaviar_AN=154602;ExAC_ALL=0.1724;ExAC_AFR=0.3274;ExAC_AMR=0.2139;ExAC_EAS=0.1935;ExAC_FIN=0.1763;ExAC_NFE=0.1230;ExAC_OTH=0.1898;ExAC_SAS=0.2319;CLNALLELEID=54092;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.62;FATHMM_pred=T;PROVEAN_score=-1.2;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=0.509;CADD_phred=7.501;DANN_score=0.985;fathmm-MKL_coding_score=0.238;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.093;MetaSVM_pred=T;MetaLR_score=0.076;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.24;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.026;phastCons20way_mammalian=0.272;SiPhy_29way_logOdds=9.217;GDI_full_10282015=.;dpsi_max_tissue=-0.0247;dpsi_zscore=-0.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150224#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1722;gnomAD_exome_AFR=0.3295;gnomAD_exome_AMR=0.1988;gnomAD_exome_ASJ=0.1579;gnomAD_exome_EAS=0.1934;gnomAD_exome_FIN=0.1776;gnomAD_exome_NFE=0.1218;gnomAD_exome_OTH=0.1634;gnomAD_exome_SAS=0.2383;gnomAD_genome_ALL=0.1975;gnomAD_genome_AFR=0.3352;gnomAD_genome_AMR=0.2053;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.2005;gnomAD_genome_FIN=0.1804;gnomAD_genome_NFE=0.1245;gnomAD_genome_OTH=0.1602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-401.266,0,-463.097:447:224:213:6458:7106 . . . . 0/1:-609.927,0,-581.24:603:286:310:9361:9025 . . . . 0/1:-539.589,0,-581.948:596:289:298:8802:9156 . . . . . . . . 0/1:-358.051,0,-521.389:466:252:204:6002:7947 . . . . . 0/1:-489.762,0,-567.94:571:289:275:8090:8872 . . . 0/1:-727.066,0,-793.448:753:381:359:11191:12062 . 0/1:-754.298,0,-712.795:752:351:389:11648:11135 . . . . . . . . . . . 0/1:-580.512,0,-680.866:663:340:312:9333:10586 0/1:-383.768,0,-425.691:441:221:210:6157:6886 . . . . . . . . . . 0/1:-524.947,0,-479.794:543:251:279:8108:7792 0/1:-509.963,0,-669.083:609:324:275:8164:10293 . 0/1:-751.334,0,-809.668:802:399:393:11846:12705 0/1:-576.187,0,-470.012:526:238:280:8601:7539 0/1:-419.903,0,-528.222:509:266:235:6891:8325 . . . . . . . . . 0/1:-373.309,0,-495.222:488:264:213:6321:8037 . . . . . . . . 0/1:-655.277,0,-706.761:710:344:350:10366:10937 . . . . . 0/1:-385.021,0,-469.701:437:224:205:6240:7140 . . 0/1:-569.749,0,-570.379:583:272:294:8744:8677 . . . . 0/1:-702.317,0,-638.266:620:296:317:10259:9495:296,317 . . 0/1:-384.064,0,-497.19:418:224:188:5867:7136:224,188 0/1:-704.06,0,-681.314:662:334:324:10403:10222:334,324 . . . . . 0/1:-823.656,0,-721.459:738:336:392:12090:10821:336,392 . . . . 0/1:-707.307,0,-753.91:700:353:339:10679:11284:353,339 . . . . chr6 7581641 . G A 3508.04 . AB=0.484108;ABP=3.90756;AC=1;AF=0.5;AN=2;AO=198;CIGAR=1X;DP=409;DPB=409;DPRA=0;EPP=47.9313;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=37.0758;MQMR=37.6912;NS=1;NUMALT=1;ODDS=807.756;PAIRED=0.984848;PAIREDR=0.980392;PAO=0;PQA=0;PQR=0;PRO=0;QA=5893;QR=6381;RO=204;RPL=83;RPP=14.2405;RPPR=4.07475;RPR=115;RUN=1;SAF=134;SAP=56.7488;SAR=64;SF=0;SRF=125;SRP=25.534;SRR=79;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G5218A:p.E1740K;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000399361;avsnp147=rs142885240;Kaviar_AF=0.0012872;Kaviar_AC=199;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0016;ExAC_OTH=0.0022;ExAC_SAS=0.0009;CLNALLELEID=54093;CLNDN=Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Arrhythmogenic_right_ventricular_dysplasia|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Gene:192115,Human_Phenotype_Ontology:HP:0002076,MedGen:C0149931,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239850|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.962;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-0.85;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_pred=N;VEST3_score=0.729;CADD_raw=0.993;CADD_phred=10.62;DANN_score=0.998;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.875;MetaSVM_pred=T;MetaLR_score=0.140;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.09;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.256;phastCons20way_mammalian=0.156;SiPhy_29way_logOdds=17.082;GDI_full_10282015=.;dpsi_max_tissue=-0.0175;dpsi_zscore=-0.088;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1511403#"Brugada_syndrome";gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0022;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-369.1,0,-411.84:409:204:198:5893:6381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7582993 . A T 4713.13 . AB=0.461667;ABP=10.6684;AC=1;AF=0.5;AN=2;AO=277;CIGAR=1X;DP=600;DPB=600;DPRA=0;EPP=16.1881;EPPR=4.78067;GTI=0;LEN=1;MEANALT=2;MQM=38.4621;MQMR=38.414;NS=1;NUMALT=1;ODDS=1085.24;PAIRED=0.963899;PAIREDR=0.984076;PAO=0;PQA=0;PQR=0;PRO=0;QA=7805;QR=9674;RO=314;RPL=123;RPP=10.5438;RPPR=16.3987;RPR=154;RUN=1;SAF=154;SAP=10.5438;SAR=123;SF=0;SRF=184;SRP=23.1759;SRR=130;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.A3701T:p.E1234V,DSP:NM_004415:exon24:c.A5498T:p.E1833V;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0093;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0093;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00399361;avsnp147=rs78652302;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;ExAC_ALL=0.0095;ExAC_AFR=0.0013;ExAC_AMR=0.0031;ExAC_EAS=0;ExAC_FIN=0.0243;ExAC_NFE=0.0139;ExAC_OTH=0.0055;ExAC_SAS=0.0004;CLNALLELEID=54096;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=-0.18;FATHMM_pred=T;PROVEAN_score=-1.87;PROVEAN_pred=N;VEST3_score=0.558;CADD_raw=6.311;CADD_phred=29.2;DANN_score=0.995;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.724;MetaSVM_pred=T;MetaLR_score=0.256;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.2;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.091;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Cardiomyopathy,_dilated#21859740;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM117226#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0095;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0245;gnomAD_exome_NFE=0.0136;gnomAD_exome_OTH=0.0088;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0112;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0246;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-482.081,0,-632.521:600:314:277:7805:9674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7583089 . A G 10077.90 . AB=0.476654;ABP=7.8771;AC=1;AF=0.5;AN=2;AO=490;CIGAR=1X;DP=1028;DPB=1028;DPRA=0;EPP=6.48466;EPPR=4.21021;GTI=0;LEN=1;MEANALT=3;MQM=40.0673;MQMR=40.2753;NS=1;NUMALT=1;ODDS=2320.53;PAIRED=0.961224;PAIREDR=0.963671;PAO=0;PQA=0;PQR=0;PRO=0;QA=15424;QR=16982;RO=523;RPL=256;RPP=5.15518;RPPR=11.418;RPR=234;RUN=1;SAF=273;SAP=16.9077;SAR=217;SF=1;SRF=294;SRP=20.5523;SRR=229;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.A3797G:p.N1266S,DSP:NM_004415:exon24:c.A5594G:p.N1865S;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs780714982;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.057e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.634;SIFT_pred=T;Polyphen2_HDIV_score=0.259;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.061;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.04;FATHMM_pred=T;PROVEAN_score=-0.49;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=1.310;CADD_phred=12.32;DANN_score=0.999;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.068;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.387;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.122e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1017.91,0,-1149.69:1028:523:490:15424:16982:523,490 . . chr6 7583703 . G A 2088.95 . AB=0.491694;ABP=3.19065;AC=2;AF=0.5;AN=4;AO=148;CIGAR=1X;DP=545;DPB=301;DPRA=0;EPP=132.653;EPPR=197.806;GTI=0;LEN=1;MEANALT=2;MQM=39.7095;MQMR=38.98;NS=1;NUMALT=1;ODDS=544.796;PAIRED=0.972973;PAIREDR=0.96;PAO=0;PQA=0;PQR=0;PRO=0;QA=4842;QR=4859;RO=150;RPL=121;RPP=132.653;RPPR=191.147;RPR=27;RUN=1;SAF=8;SAP=258.657;SAR=140;SF=1;SRF=7;SRP=270.767;SRR=143;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.G4411A:p.D1471N,DSP:NM_004415:exon24:c.G6208A:p.D2070N;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0033;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0033;esp6500siv2_ea=0.0045;1000g2015aug_all=0.00259585;avsnp147=rs41302885;Kaviar_AF=0.0038227;Kaviar_AC=591;Kaviar_AN=154602;ExAC_ALL=0.0039;ExAC_AFR=0.0005;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0023;ExAC_NFE=0.0060;ExAC_OTH=0.0055;ExAC_SAS=0.0012;CLNALLELEID=54103;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.078;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.965;MutationAssessor_pred=L;FATHMM_score=-0.9;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_pred=N;VEST3_score=0.153;CADD_raw=6.909;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.479;MetaSVM_pred=T;MetaLR_score=0.369;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.09;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=18.845;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0041;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0052;gnomAD_exome_ASJ=0.0085;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0057;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-323.063,0,-319:301:150:148:4842:4859:150,148 . . . . . . . . . 0/1:-216.8,0,-299.813:244:133:107:3413:4374:133,107 . . . . . . . chr6 7583885 . T C 1452.23 . AB=0.550633;ABP=6.52863;AC=1;AF=0.5;AN=2;AO=87;CIGAR=1X;DP=158;DPB=158;DPRA=0;EPP=40.9736;EPPR=10.9517;GTI=0;LEN=1;MEANALT=2;MQM=33.908;MQMR=37.4;NS=1;NUMALT=1;ODDS=291.84;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2626;QR=2240;RO=70;RPL=59;RPP=26.9963;RPPR=30.9292;RPR=28;RUN=1;SAF=40;SAP=4.23331;SAR=47;SF=0;SRF=31;SRP=4.99565;SRR=39;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.T4593C:p.A1531A,DSP:NM_004415:exon24:c.T6390C:p.A2130A;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0101;esp6500siv2_ea=0.0136;esp6500siv2_all=0.0101;esp6500siv2_ea=0.0136;1000g2015aug_all=0.00658946;avsnp147=rs28763969;Kaviar_AF=0.0102909;Kaviar_AC=1591;Kaviar_AN=154602;ExAC_ALL=0.0096;ExAC_AFR=0.0023;ExAC_AMR=0.0035;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0127;ExAC_OTH=0.0055;ExAC_SAS=0.0140;CLNALLELEID=54105;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0096;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0053;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0142;gnomAD_exome_OTH=0.0069;gnomAD_exome_SAS=0.0136;gnomAD_genome_ALL=0.0079;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0129;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-158.455,0,-137.232:158:70:87:2626:2240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7584260 . G A 10176.50 . AB=0.459879;ABP=19.2148;AC=1;AF=0.5;AN=2;AO=533;CIGAR=1X;DP=1159;DPB=1159;DPRA=0;EPP=3.20993;EPPR=3.24115;GTI=0;LEN=1;MEANALT=3;MQM=39.0713;MQMR=39.0897;NS=1;NUMALT=1;ODDS=2343.24;PAIRED=0.990619;PAIREDR=0.976744;PAO=0;PQA=0;PQR=0;PRO=0;QA=16256;QR=18774;RO=602;RPL=323;RPP=55.0319;RPPR=49.8881;RPR=210;RUN=1;SAF=193;SAP=91.0466;SAR=340;SF=0;SRF=213;SRP=114.744;SRR=389;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.G4968A:p.Q1656Q,DSP:NM_004415:exon24:c.G6765A:p.Q2255Q;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1040.73,0,-1239.94:1159:602:533:16256:18774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 7584617 . C T 9580.46 . AB=0.496875;ABP=3.06459;AC=110;AF=0.5;AN=172;AO=318;CIGAR=1X;DP=64390;DPB=640;DPRA=0;EPP=169.189;EPPR=110.722;GTI=0;LEN=1;MEANALT=3;MQM=36.5881;MQMR=37.6381;NS=1;NUMALT=1;ODDS=1281.46;PAIRED=1;PAIREDR=0.974603;PAO=0;PQA=0;PQR=0;PRO=0;QA=9669;QR=9399;RO=315;RPL=205;RPP=60.807;RPPR=103.939;RPR=113;RUN=1;SAF=130;SAP=25.9815;SAR=188;SF=0,1;SRF=116;SRP=50.5001;SRR=199;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C5325T:p.T1775T,DSP:NM_004415:exon24:c.C7122T:p.T2374T;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.3022;esp6500siv2_ea=0.3690;esp6500siv2_all=0.3022;esp6500siv2_ea=0.3690;1000g2015aug_all=0.211661;avsnp147=rs2076300;Kaviar_AF=0.289957;Kaviar_AC=44828;Kaviar_AN=154602;ExAC_ALL=0.2881;ExAC_AFR=0.1681;ExAC_AMR=0.1799;ExAC_EAS=0.0682;ExAC_FIN=0.3304;ExAC_NFE=0.3568;ExAC_OTH=0.3007;ExAC_SAS=0.2592;CLNALLELEID=54114;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2894;gnomAD_exome_AFR=0.1670;gnomAD_exome_AMR=0.1952;gnomAD_exome_ASJ=0.4315;gnomAD_exome_EAS=0.0662;gnomAD_exome_FIN=0.3296;gnomAD_exome_NFE=0.3556;gnomAD_exome_OTH=0.3244;gnomAD_exome_SAS=0.2568;gnomAD_genome_ALL=0.2675;gnomAD_genome_AFR=0.1651;gnomAD_genome_AMR=0.2160;gnomAD_genome_ASJ=0.4371;gnomAD_genome_EAS=0.0651;gnomAD_genome_FIN=0.3282;gnomAD_genome_NFE=0.3318;gnomAD_genome_OTH=0.3006;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-597.383,0,-589.524:640:315:318:9669:9399 0/1:-793.582,0,-915.172:946:482:449:13030:14464 0/1:-602.822,0,-869.441:759:430:320:9847:13066 0/1:-434.948,0,-493.634:502:254:239:7063:7686 1/1:-1914.23,-220.9,0:781:6:768:23235:150 1/1:-2093.43,-238.26,0:868:10:848:25696:250 0/1:-602.866,0,-625.543:692:339:342:9922:10200 0/1:-760.509,0,-757.232:839:397:428:12426:12270 0/1:-600.187,0,-756.991:718:380:325:9705:11590 1/1:-1776.6,-203.16,0:756:10:732:21838:254 1/1:-1833.13,-216.845,0:780:6:763:22599:190 0/1:-711.325,0,-814.013:803:407:386:11652:12713 0/1:-567.107,0,-652.327:669:342:316:9302:10250 0/1:-446.065,0,-594.854:593:311:270:8045:9412 1/1:-1525.22,-172.987,0:632:8:617:18547:207 0/1:-1050.09,0,-925.54:1028:474:540:16245:14700 1/1:-1164.54,-138.586,0:511:5:496:14806:161 0/1:-1513.24,0,-1309.24:1470:694:762:23312:21036 0/1:-788.923,0,-746.092:809:393:409:12280:12075 . 1/1:-1549.53,-183.514,0:637:2:625:18801:72 1/1:-2124.16,-238.815,0:892:12:867:26248:335 0/1:-354.186,0,-363.96:417:203:207:6148:6090 1/1:-2117.07,-245.909,0:873:5:854:25686:150 1/1:-2247.53,-246.282,0:946:14:921:27654:411 . 0/1:-677.624,0,-749.258:766:385:366:11144:11844 0/1:-803.814,0,-979.425:924:480:429:13015:15047 0/1:-430.959,0,-436.04:493:237:248:7411:7182 1/1:-1366.41,-158.899,0:567:4:557:16701:132 0/1:-635.324,0,-721.624:721:371:341:10212:11329 0/1:-767.321,0,-1078.73:962:530:415:12862:16229 . 0/1:-700.772,0,-739.995:796:390:391:11382:11754 0/1:-837.914,0,-728.455:833:379:442:13303:11638 . 0/1:-972.392,0,-864.991:984:458:514:15356:13998 . . 0/1:-523.914,0,-469.768:515:244:267:8230:7545 0/1:-908.168,0,-975.839:1009:506:488:14591:15509 . . 0/1:-754.104,0,-868.769:838:432:392:11903:13394 0/1:-900.525,0,-915.486:945:466:467:14102:14359 1/1:-2093.31,-246.27,0:890:9:872:25789:254 0/1:-619.215,0,-757.904:747:383:345:10295:11797 0/1:-432.738,0,-439.256:476:234:232:6890:7122 0/1:-684.986,0,-586.981:685:318:355:10811:9366 0/1:-900.315,0,-875.014:953:454:480:14148:13848 . 0/1:-619.186,0,-511.916:654:293:350:10144:8795 0/1:-942.927,0,-833.048:924:435:477:14493:13387 0/1:-937.436,0,-830.799:928:435:478:14402:13187 . 0/1:-610.516,0,-529.868:589:268:312:9430:8436 0/1:-803.091,0,-779.6:850:411:419:12607:12363 0/1:-294.889,0,-317.377:343:174:164:4951:5199 0/1:-570.183,0,-565.528:627:308:310:9351:9117 0/1:-774.196,0,-730.057:808:391:406:12178:11678 1/1:-919.282,-109.596,0:431:8:412:12048:199 . 0/1:-686.482,0,-629.215:717:346:366:10887:10318 . 0/1:-831.886,0,-938.843:940:478:450:13593:14681 . 1/1:-757.032,-87.1463,0:345:8:336:9693:232 1/1:-1986.56,-224.605,0:829:11:809:24345:263 . 0/1:-852.78,0,-755.069:876:415:448:13583:12583 1/1:-1836.04,-209.379,0:773:9:756:22587:242 1/1:-2241.06,-242.172,0:917:12:891:27040:378 . . 1/1:-1674.03,-183.85,0:709:11:690:20770:314 . 0/1:-764.859,0,-845.897:867:432:417:12545:13148 1/1:-2290.58,-250.929,0:945:14:919:27859:379 0/1:-494.57,0,-568.95:563:292:262:7982:8817 0/1:-429.674,0,-479.186:499:253:239:7124:7694 0/1:-696.805,0,-687.903:757:376:366:11230:11299 0/1:-762.723,0,-776.795:855:415:426:12394:12554 0/1:-809.458,0,-868.625:921:454:450:13382:13807 0/1:-640.172,0,-706.143:717:359:352:10396:11207 . 0/1:-648.093,0,-839.697:790:418:358:10553:12894 0/1:-534.813,0,-556.243:604:298:297:8565:8879 1/1:-2082.29,-223.383,0:896:16:869:25725:491 . . . . 1/1:-2488.07,-285.781,0:1008:6:991:30084:175 0/1:-682.116,0,-867.852:833:434:383:11325:13422 0/1:-860.97,0,-797.731:905:442:455:13674:13012 . . . 0/1:-724.214,0,-628.363:669:308:348:10762:9657:308,348 . . 0/1:-774.586,0,-880.169:804:411:385:11796:13175:411,385 1/1:-1626.29,-161.524,0:660:13:640:19324:397:13,640 0/1:-582.024,0,-700.719:635:329:292:8974:10431:329,292 0/1:-647.108,0,-629.495:610:294:312:9673:9474:294,312 0/1:-559.713,0,-553.267:570:271:289:8721:8575:271,289 0/1:-814.651,0,-654.677:711:322:382:11891:10021:322,382 0/1:-543.917,0,-509.403:528:251:270:8249:7810:251,270 1/1:-1575.27,-159.394,0:626:11:606:18798:327:11,606 0/1:-569.995,0,-660.182:597:309:282:8698:9752:309,282 . . 0/1:-659.035,0,-723.173:688:343:334:10096:10779:343,334 0/1:-593.025,0,-612.731:591:296:289:8962:9315:296,289 1/1:-1610.75,-172.562,0:616:4:605:18845:122:4,605 . chr6 7585625 . A G 2710.88 . AB=0.442935;ABP=13.4192;AC=1;AF=0.5;AN=2;AO=163;CIGAR=1X;DP=368;DPB=368;DPRA=0;EPP=15.8127;EPPR=31.1098;GTI=0;LEN=1;MEANALT=3;MQM=38.6074;MQMR=40.408;NS=1;NUMALT=1;ODDS=624.204;PAIRED=0.944785;PAIREDR=0.945274;PAO=0;PQA=0;PQR=0;PRO=0;QA=4723;QR=6158;RO=201;RPL=70;RPP=10.0576;RPPR=16.2444;RPR=93;RUN=1;SAF=118;SAP=74.0028;SAR=45;SF=1;SRF=138;SRP=63.7791;SRR=63;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.A6333G:p.A2111A,DSP:NM_004415:exon24:c.A8130G:p.A2710A;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-286.757,0,-427.422:368:201:163:4723:6158:201,163 . . . . chr6 7585670 . C A 4640.64 . AB=0.483734;ABP=4.63507;AC=20;AF=0.5;AN=38;AO=342;CIGAR=1X;DP=10785;DPB=707;DPRA=0;EPP=63.9893;EPPR=74.1565;GTI=0;LEN=1;MEANALT=3;MQM=33.8567;MQMR=37.132;NS=1;NUMALT=1;ODDS=1116.61;PAIRED=0.932749;PAIREDR=0.966292;PAO=0;PQA=0;PQR=0;PRO=0;QA=9130;QR=10071;RO=356;RPL=131;RPP=43.646;RPPR=20.7969;RPR=211;RUN=1;SAF=209;SAP=39.6841;SAR=133;SF=0,1;SRF=219;SRP=44.0243;SRR=137;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C6378A:p.R2126R,DSP:NM_004415:exon24:c.C8175A:p.R2725R;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0461;esp6500siv2_ea=0.0633;esp6500siv2_all=0.0461;esp6500siv2_ea=0.0633;1000g2015aug_all=0.0239617;avsnp147=rs11558731;Kaviar_AF=0.0466618;Kaviar_AC=7214;Kaviar_AN=154602;ExAC_ALL=0.0460;ExAC_AFR=0.0101;ExAC_AMR=0.0284;ExAC_EAS=0.0002;ExAC_FIN=0.0438;ExAC_NFE=0.0674;ExAC_OTH=0.0562;ExAC_SAS=0.0188;CLNALLELEID=54128;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0462;gnomAD_exome_AFR=0.0104;gnomAD_exome_AMR=0.0340;gnomAD_exome_ASJ=0.0665;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0675;gnomAD_exome_OTH=0.0545;gnomAD_exome_SAS=0.0180;gnomAD_genome_ALL=0.0409;gnomAD_genome_AFR=0.0112;gnomAD_genome_AMR=0.0346;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0447;gnomAD_genome_NFE=0.0605;gnomAD_genome_OTH=0.0489;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-506.557,0,-618.6:707:356:342:9130:10071 . . . 0/1:-501.672,0,-494.87:580:278:298:8514:8334 . . . . . . . 0/1:-277.906,0,-419.873:452:251:197:5262:7273 . . . . . . . . . . . . . . . . . . 0/1:-467.705,0,-495.453:571:285:283:7754:8513 . 0/1:-544.184,0,-729.446:739:390:345:9389:11817 . . . 0/1:-654.506,0,-665.589:793:382:409:11307:11300 . . . 0/1:-246.406,0,-491.632:454:264:190:5139:7928 . 0/1:-540.729,0,-536.82:655:321:328:8973:9412 . 0/1:-576.758,0,-778.573:813:434:373:10132:12853 . . . . . . . . . . 0/1:-265.897,0,-338.734:379:202:176:4839:5925 . . . . . . . . . 0/1:-287.798,0,-273.435:411:198:208:5407:5239 . . . . . 0/1:-245.928,0,-444.221:432:244:184:4983:7277 . 0/1:-508.455,0,-625.252:726:378:344:9141:10903 . . 0/1:-352.743,0,-444.737:554:286:263:6711:8209 . . . 0/1:-280.008,0,-356.319:382:190:185:4953:5840 0/1:-477.988,0,-470.963:588:282:303:8209:8424 . . . . . . . 1/1:-1305.69,-109.953,0:529:21:508:15972:574:21,508 . . 0/1:-514.072,0,-529.399:503:251:251:7703:7875:251,251 . . 0/1:-508.919,0,-576.436:517:271:246:7647:8487:271,246 . . . . . . . . . . . . chr6 7585796 . C G 9450.94 . AB=0.492553;ABP=3.46308;AC=1;AF=0.5;AN=2;AO=463;CIGAR=1X;DP=940;DPB=940;DPRA=0;EPP=71.6767;EPPR=28.2211;GTI=0;LEN=1;MEANALT=3;MQM=40.6156;MQMR=40.5468;NS=1;NUMALT=1;ODDS=2145.67;PAIRED=0.982721;PAIREDR=0.958606;PAO=0;PQA=0;PQR=0;PRO=0;QA=14292;QR=14149;RO=459;RPL=179;RPP=54.7176;RPPR=34.0496;RPR=284;RUN=1;SAF=270;SAP=30.8173;SAR=193;SF=1;SRF=266;SRP=28.2211;SRR=193;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C6504G:p.T2168T,DSP:NM_004415:exon24:c.C8301G:p.T2767T;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000798722;avsnp147=rs145362059;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0011;ExAC_SAS=0.0003;CLNALLELEID=44689;CLNDN=Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-967.895,0,-947.893:940:459:463:14292:14149:459,463 . . . . . . . . . . . . . . . chr6 7585967 . G C 17984.47 . AB=0;ABP=0;AC=179;AF=1;AN=222;AO=863;CIGAR=1X;DP=111725;DPB=878;DPRA=0;EPP=39.8498;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=34.9525;MQMR=28.25;NS=1;NUMALT=1;ODDS=1138.16;PAIRED=0.959444;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=25377;QR=178;RO=8;RPL=415;RPP=5.75043;RPPR=7.35324;RPR=448;RUN=1;SAF=470;SAP=17.9288;SAR=393;SF=0,1;SRF=4;SRP=3.0103;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_004415:exon24:c.G8472C:p.G2824G;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.6881;esp6500siv2_ea=0.7173;esp6500siv2_all=0.6881;esp6500siv2_ea=0.7173;1000g2015aug_all=0.709465;avsnp147=rs2744380;Kaviar_AF=0.139468;Kaviar_AC=21562;Kaviar_AN=154602;ExAC_ALL=0.7117;ExAC_AFR=0.6397;ExAC_AMR=0.7338;ExAC_EAS=0.8066;ExAC_FIN=0.6397;ExAC_NFE=0.7101;ExAC_OTH=0.6850;ExAC_SAS=0.7272;CLNALLELEID=54134;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7137;gnomAD_exome_AFR=0.6367;gnomAD_exome_AMR=0.7507;gnomAD_exome_ASJ=0.7447;gnomAD_exome_EAS=0.8051;gnomAD_exome_FIN=0.6456;gnomAD_exome_NFE=0.7084;gnomAD_exome_OTH=0.7150;gnomAD_exome_SAS=0.7193;gnomAD_genome_ALL=0.6718;gnomAD_genome_AFR=0.6315;gnomAD_genome_AMR=0.7398;gnomAD_genome_ASJ=0.7781;gnomAD_genome_EAS=0.7978;gnomAD_genome_FIN=0.6403;gnomAD_genome_NFE=0.6820;gnomAD_genome_OTH=0.6875;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2002.31,-247.613,0:878:8:863:25377:178 0/1:-1146.5,0,-1089.17:1234:586:643:19130:18035 1/1:-2382.16,-287.51,0:1045:15:1020:29849:399 0/1:-647.487,0,-469.552:650:269:376:10668:8496 1/1:-2271.28,-302.281,0:1042:5:1026:29089:92 1/1:-2824.27,-350.714,0:1268:14:1239:36091:343 1/1:-1993.21,-246.84,0:900:11:877:25604:263 1/1:-2277.34,-283.39,0:1023:11:998:29286:271 0/1:-725.79,0,-676.929:785:370:409:12054:11296 1/1:-2397.38,-293.258,0:1087:14:1063:30954:381 1/1:-2052.91,-269.101,0:907:1:897:26105:14 1/1:-2213.06,-278.735,0:957:4:941:27965:91 1/1:-1981.15,-234.97,0:884:13:859:25383:314 0/1:-778.163,0,-734.95:854:405:442:12945:12269 1/1:-1842.68,-237.015,0:840:6:825:23474:168 0/1:-1238.07,0,-1062.97:1297:592:693:20354:17985 1/1:-1862.16,-232.526,0:833:8:816:23741:200 1/1:-4530.63,-549.2,0:1946:18:1914:56928:389 1/1:-2248.96,-276.016,0:1001:12:983:28705:344 1/1:-1876.71,-243.411,0:847:6:836:23914:142 1/1:-1560.91,-200.302,0:709:7:699:20197:160 1/1:-2478.73,-308.088,0:1075:5:1051:31069:119 0/1:-686.387,0,-499.658:693:295:389:11228:8635 1/1:-2994.07,-368.925,0:1301:10:1272:37533:202 1/1:-2614.4,-325.849,0:1159:12:1135:33094:274 . 0/1:-798.024,0,-882.401:945:482:450:13574:14580 0/1:-1001.11,0,-856.003:1081:496:567:16665:14861 0/1:-712.505,0,-717.084:843:407:428:12215:12270 1/1:-1646.75,-198.69,0:716:7:701:20922:164 1/1:-2180.06,-268.934,0:974:11:951:27711:278 1/1:-2799.61,-357.206,0:1237:6:1215:35800:128 . 1/1:-2354.87,-304.589,0:1059:8:1035:29998:130 0/1:-980.214,0,-901.693:1068:496:560:16285:15153 0/1:-1073.47,0,-909.046:1160:524:622:17723:15492 1/1:-2542.7,-328.508,0:1146:11:1122:32297:211 1/1:-2137.18,-265.833,0:936:6:923:26961:155 0/1:-776.562,0,-784.988:902:439:454:13380:12995 1/1:-1602.87,-201.248,0:690:4:681:19903:56 1/1:-2769.41,-347.962,0:1244:14:1212:35690:285 . 0/1:-925.986,0,-886.185:1008:477:519:15372:14668 1/1:-2541.7,-315.347,0:1126:11:1105:32533:256 1/1:-3021.11,-376.179,0:1318:11:1293:38384:265 1/1:-2326.67,-298.049,0:1033:7:1016:29868:151 0/1:-846.786,0,-930.663:1040:518:510:14770:15488 0/1:-494.383,0,-553.682:594:297:290:8384:8847 1/1:-1942.92,-248.124,0:850:5:838:24808:88 1/1:-2669.49,-328.094,0:1195:17:1165:34323:363 1/1:-2532.24,-315.853,0:1144:12:1114:32505:318 1/1:-2557.69,-333.43,0:1167:7:1146:33062:180 1/1:-2977.79,-370.933,0:1256:4:1246:36919:63 0/1:-1101.73,0,-808.899:1121:491:620:17827:14614 1/1:-1762.91,-234.558,0:812:5:799:22801:92 0/1:-782.297,0,-676.412:804:369:426:12602:11343 1/1:-2341.92,-277.32,0:1064:20:1035:30162:530 0/1:-585.288,0,-494.155:639:302:328:9840:9071 0/1:-634.674,0,-544.575:681:304:371:10776:9083 0/1:-937.313,0,-791.138:965:437:517:15170:13412 1/1:-1864.51,-249.336,0:870:5:852:24252:99 0/1:-1020.9,0,-1106.4:1219:607:598:17359:18231 0/1:-857.253,0,-773.998:926:434:484:14193:13420 0/1:-625.455,0,-693.822:796:401:389:11183:11873 1/1:-2781.55,-360.307,0:1239:9:1218:35486:148 1/1:-2495.86,-310.811,0:1079:7:1063:31182:149 1/1:-1508.06,-195.494,0:675:2:665:19471:68 1/1:-2270.01,-290.609,0:1007:6:993:28727:141 1/1:-2150.18,-274.883,0:946:4:930:27043:78 1/1:-2536.8,-324.771,0:1150:9:1130:32269:217 1/1:-2264.35,-288.785,0:1008:8:995:28724:160 1/1:-2722.28,-341.59,0:1193:11:1170:34538:223 0/1:-1014.64,0,-1089:1200:591:600:16998:18214 1/1:-1405.91,-186.152,0:713:14:690:19078:364 1/1:-2031.15,-260.431,0:901:5:888:25905:117 0/1:-1081.31,0,-985.987:1221:570:636:17993:17174 1/1:-2704.09,-346.932,0:1177:3:1161:34045:68 1/1:-2583.83,-317.383,0:1182:19:1148:33467:465 1/1:-1666.89,-211.663,0:738:6:725:20672:106 1/1:-1405.75,-175.253,0:655:10:640:18615:250 0/1:-987.222,0,-955.094:1120:527:584:17050:16153 1/1:-2699.67,-343.279,0:1194:9:1177:34383:227 0/1:-1098.69,0,-1020.72:1253:585:654:19306:17542 0/1:-840.019,0,-776.711:965:450:508:14633:13587 0/1:-734.199,0,-837.873:916:460:440:12813:13918 1/1:-2092.73,-258.528,0:942:10:926:26999:277 0/1:-623.363,0,-581.434:717:335:378:10770:9946 1/1:-2380.17,-302.174,0:1091:11:1071:30905:274 0/1:-547.962,0,-523.218:625:296:321:9248:8884 1/1:-2111.29,-264.756,0:954:11:937:27567:260 0/1:-1215.99,0,-1089.15:1307:608:689:20076:18582 . 1/1:-3112.55,-386.832,0:1343:8:1321:39324:174 1/1:-2592.41,-328.841,0:1134:7:1117:33137:116 0/1:-926.645,0,-928.74:1062:506:545:15669:15459 . 0/1:-1305.21,0,-1076.6:1114:511:598:19042:16258:511,598 1/1:-2803.86,-285.825,0:1055:10:1038:33030:342:10,1038 0/1:-1182.68,0,-1167.24:1105:538:553:17562:17537:538,553 0/1:-843.404,0,-548.983:659:273:383:12109:8742:273,383 0/1:-1221.82,0,-964.774:1048:463:566:17866:14958:463,566 0/1:-1242.73,0,-1202.71:1143:558:577:18312:18004:558,577 1/1:-2620.97,-276.566,0:986:9:968:30800:282:9,968 1/1:-2655.95,-268.411,0:1005:13:982:31265:352:13,982 1/1:-2535.43,-274.291,0:955:5:944:29867:128:5,944 1/1:-2885.4,-285.908,0:1104:16:1074:34166:502:16,1074 0/1:-1215.89,0,-1043.32:1076:499:568:17931:16045:499,568 0/1:-929.508,0,-1034.56:910:466:436:13937:15124:466,436 1/1:-2336.31,-262.124,0:893:3:883:27584:64:3,883 1/1:-2580.15,-280.035,0:981:7:968:30255:160:7,968 0/1:-1163.4,0,-1108.94:1069:524:538:17244:16726:524,538 0/1:-1136.1,0,-944.726:991:453:528:16656:14439:453,528 1/1:-3276.13,-345.991,0:1217:8:1195:38207:205:8,1195 1/1:-2620.89,-282.953,0:970:2:959:30697:72:2,959 1/1:-2341.64,-250.593,0:851:1:842:27221:36:1,842 0/1:-1147.61,0,-1059.17:1042:500:536:17168:15950:500,536 chr6 7586120 . T A 5012.60 . AB=0.468852;ABP=8.15064;AC=2;AF=0.5;AN=4;AO=286;CIGAR=1X;DP=1167;DPB=610;DPRA=0;EPP=3.0103;EPPR=3.01715;GTI=0;LEN=1;MEANALT=3;MQM=37.1469;MQMR=38.489;NS=1;NUMALT=1;ODDS=1169.93;PAIRED=0.982517;PAIREDR=0.977918;PAO=0;PQA=0;PQR=0;PRO=0;QA=8592;QR=9690;RO=317;RPL=139;RPP=3.49622;RPPR=3.56516;RPR=147;RUN=1;SAF=90;SAP=88.3203;SAR=196;SF=0;SRF=121;SRP=41.5419;SRR=196;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=DSP;GeneDetail.refGene=NM_004415:c.*9T>A,NM_001008844:c.*9T>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0076;esp6500siv2_ea=0.0109;esp6500siv2_all=0.0076;esp6500siv2_ea=0.0109;1000g2015aug_all=0.00319489;avsnp147=rs11558732;Kaviar_AF=0.0055821;Kaviar_AC=863;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0014;ExAC_AMR=0.0052;ExAC_EAS=0;ExAC_FIN=0.0073;ExAC_NFE=0.0075;ExAC_OTH=0.0125;ExAC_SAS=0.0029;CLNALLELEID=54017;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#21723241;hgmdPROM=.;hgmdPRO=id:CR115369#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=0.0059;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0214;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0059;gnomAD_exome_NFE=0.0072;gnomAD_exome_OTH=0.0106;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=0.0052;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0071;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-524.663,0,-633.433:610:317:286:8592:9690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-510.691,0,-596.915:557:286:266:8172:9003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 26087736 . G A 2950.30 . AB=0.467347;ABP=7.54823;AC=1;AF=0.5;AN=2;AO=229;CIGAR=1X;DP=490;DPB=490;DPRA=0;EPP=20.5433;EPPR=21.8825;GTI=0;LEN=1;MEANALT=3;MQM=32.7293;MQMR=30.4936;NS=1;NUMALT=1;ODDS=679.332;PAIRED=0.917031;PAIREDR=0.875536;PAO=0;PQA=0;PQR=0;PRO=0;QA=5658;QR=6696;RO=233;RPL=111;RPP=3.47494;RPPR=61.1741;RPR=118;RUN=1;SAF=90;SAP=25.7776;SAR=139;SF=0;SRF=110;SRP=4.58532;SRR=123;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon1:c.G68A:p.R23H,HFE:NM_001300749:exon1:c.G68A:p.R23H,HFE:NM_139003:exon1:c.G68A:p.R23H,HFE:NM_139004:exon1:c.G68A:p.R23H,HFE:NM_139006:exon1:c.G68A:p.R23H,HFE:NM_139007:exon1:c.G68A:p.R23H,HFE:NM_139008:exon1:c.G68A:p.R23H,HFE:NM_139009:exon1:c.G68A:p.R23H,HFE:NM_139010:exon1:c.G68A:p.R23H,HFE:NM_139011:exon1:c.G68A:p.R23H;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000798722;avsnp147=rs148161858;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0005;ExAC_OTH=0.0011;ExAC_SAS=0.0019;CLNALLELEID=299721;CLNDN=Hereditary_hemochromatosis;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.115;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.164;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=5.94;FATHMM_pred=T;PROVEAN_score=1.7;PROVEAN_pred=N;VEST3_score=0.259;CADD_raw=5.610;CADD_phred=26.5;DANN_score=0.999;fathmm-MKL_coding_score=0.116;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.348;MetaSVM_pred=T;MetaLR_score=0.554;MetaLR_pred=D;integrated_fitCons_score=0.267;integrated_confidence_value=1;GERP++_RS=2.85;phyloP7way_vertebrate=-0.023;phyloP20way_mammalian=0.016;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=7.596;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=8.961e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.826e-05;gnomAD_exome_FIN=4.494e-05;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-306.39,0,-337.443:490:233:229:5658:6696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 26091179 . C G 13354.55 . AB=0.450226;ABP=50.5665;AC=28;AF=0.5;AN=52;AO=995;CIGAR=1X;DP=39827;DPB=2210;DPRA=0;EPP=227.885;EPPR=129.983;GTI=0;LEN=1;MEANALT=3;MQM=36.5216;MQMR=37.9657;NS=1;NUMALT=1;ODDS=3680.25;PAIRED=0.945729;PAIREDR=0.940773;PAO=0;PQA=0;PQR=0;PRO=0;QA=27958;QR=34665;RO=1165;RPL=483;RPP=4.84569;RPPR=16.4772;RPR=512;RUN=1;SAF=616;SAP=125.593;SAR=379;SF=0,1;SRF=714;SRP=131.936;SRR=451;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D\x3bHFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.1107;esp6500siv2_ea=0.1513;esp6500siv2_all=0.1107;esp6500siv2_ea=0.1513;1000g2015aug_all=0.0730831;avsnp147=rs1799945;Kaviar_AF=0.109171;Kaviar_AC=16878;Kaviar_AN=154602;ExAC_ALL=0.1066;ExAC_AFR=0.0290;ExAC_AMR=0.0959;ExAC_EAS=0.0365;ExAC_FIN=0.1031;ExAC_NFE=0.1368;ExAC_OTH=0.1300;ExAC_SAS=0.0779;CLNALLELEID=15049;CLNDN=Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic,_other,_risk_factor;SIFT_score=0.378;SIFT_pred=T;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.883;Polyphen2_HVAR_pred=P;LRT_score=0.347;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.89;MutationAssessor_pred=L;FATHMM_score=5.87;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.62;CADD_raw=4.570;CADD_phred=24.4;DANN_score=0.985;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_pred=N;MetaSVM_score=0.103;MetaSVM_pred=D;MetaLR_score=0.631;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=3.51;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.692;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=6.685;GDI_full_10282015=.;dpsi_max_tissue=0.1664;dpsi_zscore=0.654;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM960827#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.1095;gnomAD_exome_AFR=0.0260;gnomAD_exome_AMR=0.1010;gnomAD_exome_ASJ=0.1095;gnomAD_exome_EAS=0.0353;gnomAD_exome_FIN=0.1036;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1174;gnomAD_exome_SAS=0.0796;gnomAD_genome_ALL=0.0985;gnomAD_genome_AFR=0.0281;gnomAD_genome_AMR=0.0959;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.0272;gnomAD_genome_FIN=0.1060;gnomAD_genome_NFE=0.1440;gnomAD_genome_OTH=0.1199;Whole_Blood=Whole_Blood::0.135501::0.417212;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . 0/1:-1645.2,0,-2235.57:2210:1165:995:27958:34665 . . . 0/1:-827.355,0,-759.154:971:444:502:13891:12832 . . 0/1:-514.464,0,-674.137:769:398:339:9049:11341 . . 0/1:-696.169,0,-956.254:1041:539:476:12499:15651 . . . . 0/1:-1049.46,0,-1170.62:1294:642:616:17273:18570 . . . . 1/1:-3740.21,-448.461,0:1723:33:1644:46069:730 . . . 0/1:-740.345,0,-986.591:1020:530:456:12635:15612 . . 0/1:-1308.23,0,-1544.43:1620:820:759:21206:24419 . . . . . 0/1:-1030.86,0,-1185.78:1328:662:622:17269:19283 . . . . . . . . . . . . . . . 0/1:-1591.15,0,-2006.9:2106:1083:962:27173:31834 0/1:-1458.42,0,-1471.76:1737:826:866:23979:24044 . . . . . . . . . . 0/1:-1335.88,0,-1767.02:1812:948:817:22657:27537 . . 0/1:-710.758,0,-810.142:879:423:432:11827:12742 . . . 0/1:-1004.47,0,-1246.04:1371:702:630:17556:20446 . 0/1:-1062.35,0,-1245.52:1395:704:658:18024:20402 . 0/1:-1169.61,0,-1721.12:1729:938:739:20566:27309 . 0/1:-1113.77,0,-1069.2:1338:618:674:18523:17867 . 0/1:-1116.14,0,-1366.8:1457:744:663:18649:21865 . . 0/1:-1153.41,0,-1635.03:1710:897:752:20455:25830 . . . . . . 0/1:-1864.79,0,-2024.92:1924:958:933:28421:30137:958,933 . 0/1:-1577.72,0,-1882.82:1713:877:795:24199:27800:877,795 . . 0/1:-1853.69,0,-1917:1827:916:883:27698:28586:916,883 . . . 0/1:-1537.78,0,-1985.85:1771:945:788:24197:29094:945,788 0/1:-1561.51,0,-1785.99:1664:845:784:24102:26383:845,784 1/1:-4538.99,-468.579,0:1819:30:1755:53738:801:30,1755 0/1:-1422.91,0,-1803.31:1599:844:724:21891:26528:844,724 . . chr6 26091179 . C G 20173.84 . AB=0.484927;ABP=6.80699;AC=8;AF=0.5;AN=14;AO=933;CIGAR=1X;DP=12317;DPB=1924;DPRA=0;EPP=89.704;EPPR=104.884;GTI=0;LEN=1;MEANALT=3;MQM=39.7503;MQMR=40.2735;NS=1;NUMALT=1;ODDS=4224.04;PAIRED=0.973205;PAIREDR=0.980167;PAO=0;PQA=0;PQR=0;PRO=0;QA=28421;QR=30137;RO=958;RPL=474;RPP=3.53397;RPPR=3.04657;RPR=459;RUN=1;SAF=584;SAP=131.541;SAR=349;SF=1;SRF=586;SRP=106.815;SRR=372;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D\x3bHFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.1107;esp6500siv2_ea=0.1513;esp6500siv2_all=0.1107;esp6500siv2_ea=0.1513;1000g2015aug_all=0.0730831;avsnp147=rs1799945;Kaviar_AF=0.109171;Kaviar_AC=16878;Kaviar_AN=154602;ExAC_ALL=0.1066;ExAC_AFR=0.0290;ExAC_AMR=0.0959;ExAC_EAS=0.0365;ExAC_FIN=0.1031;ExAC_NFE=0.1368;ExAC_OTH=0.1300;ExAC_SAS=0.0779;CLNALLELEID=15049;CLNDN=Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic,_other,_risk_factor;SIFT_score=0.378;SIFT_pred=T;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.883;Polyphen2_HVAR_pred=P;LRT_score=0.347;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.89;MutationAssessor_pred=L;FATHMM_score=5.87;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.62;CADD_raw=4.570;CADD_phred=24.4;DANN_score=0.985;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_pred=N;MetaSVM_score=0.103;MetaSVM_pred=D;MetaLR_score=0.631;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=3.51;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.692;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=6.685;GDI_full_10282015=.;dpsi_max_tissue=0.1664;dpsi_zscore=0.654;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM960827#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.1095;gnomAD_exome_AFR=0.0260;gnomAD_exome_AMR=0.1010;gnomAD_exome_ASJ=0.1095;gnomAD_exome_EAS=0.0353;gnomAD_exome_FIN=0.1036;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1174;gnomAD_exome_SAS=0.0796;gnomAD_genome_ALL=0.0985;gnomAD_genome_AFR=0.0281;gnomAD_genome_AMR=0.0959;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.0272;gnomAD_genome_FIN=0.1060;gnomAD_genome_NFE=0.1440;gnomAD_genome_OTH=0.1199;Whole_Blood=Whole_Blood::0.135501::0.417212;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1864.79,0,-2024.92:1924:958:933:28421:30137:958,933 . 0/1:-1577.72,0,-1882.82:1713:877:795:24199:27800:877,795 . . 0/1:-1853.69,0,-1917:1827:916:883:27698:28586:916,883 . . . 0/1:-1537.78,0,-1985.85:1771:945:788:24197:29094:945,788 0/1:-1561.51,0,-1785.99:1664:845:784:24102:26383:845,784 1/1:-4538.99,-468.579,0:1819:30:1755:53738:801:30,1755 0/1:-1422.91,0,-1803.31:1599:844:724:21891:26528:844,724 . . chr6 26091185 . A T 10386.10 . AB=0.527966;ABP=11.0263;AC=1;AF=0.5;AN=2;AO=623;CIGAR=1X;DP=1180;DPB=1180;DPRA=0;EPP=143.828;EPPR=78.2824;GTI=0;LEN=1;MEANALT=3;MQM=36.8909;MQMR=37.4614;NS=1;NUMALT=1;ODDS=2037.65;PAIRED=0.964687;PAIREDR=0.909266;PAO=0;PQA=0;PQR=0;PRO=0;QA=17077;QR=15251;RO=518;RPL=322;RPP=4.54741;RPPR=21.2708;RPR=301;RUN=1;SAF=379;SAP=66.5337;SAR=244;SF=0;SRF=300;SRP=31.1975;SRR=218;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.A193T:p.S65C,HFE:NM_001300749:exon2:c.A193T:p.S65C,HFE:NM_139003:exon2:c.A193T:p.S65C,HFE:NM_139004:exon2:c.A193T:p.S65C,HFE:NM_139006:exon2:c.A193T:p.S65C,HFE:NM_139009:exon2:c.A124T:p.S42C;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0151;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0151;1000g2015aug_all=0.00399361;avsnp147=rs1800730;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;ExAC_ALL=0.0101;ExAC_AFR=0.0022;ExAC_AMR=0.0041;ExAC_EAS=0.0002;ExAC_FIN=0.0195;ExAC_NFE=0.0149;ExAC_OTH=0.0099;ExAC_SAS=0.0010;CLNALLELEID=15050;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.169;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=2.845;MutationAssessor_pred=M;FATHMM_score=5.72;FATHMM_pred=T;PROVEAN_score=-2.58;PROVEAN_pred=D;VEST3_score=0.641;CADD_raw=4.972;CADD_phred=25.1;DANN_score=0.992;fathmm-MKL_coding_score=0.716;fathmm-MKL_coding_pred=D;MetaSVM_score=0.653;MetaSVM_pred=D;MetaLR_score=0.793;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=4.13;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.712;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=7.645;GDI_full_10282015=.;dpsi_max_tissue=0.0912;dpsi_zscore=0.457;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM990718#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.0103;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0047;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0217;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0101;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0195;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-1069.68,0,-907.284:1180:518:623:17077:15251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 26091336 . T C 9990.09 . AB=0.455696;ABP=25.907;AC=78;AF=0.5;AN=134;AO=612;CIGAR=1X;DP=64126;DPB=1343;DPRA=0;EPP=50.7543;EPPR=34.7001;GTI=0;LEN=1;MEANALT=3;MQM=36.2173;MQMR=37.5651;NS=1;NUMALT=1;ODDS=2372.16;PAIRED=0.934641;PAIREDR=0.968526;PAO=0;PQA=0;PQR=0;PRO=0;QA=18039;QR=21361;RO=699;RPL=439;RPP=254.064;RPPR=377.066;RPR=173;RUN=1;SAF=229;SAP=87.1584;SAR=383;SF=0,1;SRF=257;SRP=109.332;SRR=442;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.3458;esp6500siv2_ea=0.3356;esp6500siv2_all=0.3458;esp6500siv2_ea=0.3356;1000g2015aug_all=0.426717;avsnp147=rs2071303;Kaviar_AF=0.363973;Kaviar_AC=56271;Kaviar_AN=154602;ExAC_ALL=0.3686;ExAC_AFR=0.3756;ExAC_AMR=0.4126;ExAC_EAS=0.6788;ExAC_FIN=0.3539;ExAC_NFE=0.3205;ExAC_OTH=0.3996;ExAC_SAS=0.3693;CLNALLELEID=134671;CLNDN=Hereditary_hemochromatosis|not_specified;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.2239;dpsi_zscore=-2.204;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS991415#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.3746;gnomAD_exome_AFR=0.3745;gnomAD_exome_AMR=0.4131;gnomAD_exome_ASJ=0.3490;gnomAD_exome_EAS=0.6754;gnomAD_exome_FIN=0.3538;gnomAD_exome_NFE=0.3247;gnomAD_exome_OTH=0.3596;gnomAD_exome_SAS=0.3704;gnomAD_genome_ALL=0.3642;gnomAD_genome_AFR=0.3748;gnomAD_genome_AMR=0.4120;gnomAD_genome_ASJ=0.3411;gnomAD_genome_EAS=0.6552;gnomAD_genome_FIN=0.3763;gnomAD_genome_NFE=0.3213;gnomAD_genome_OTH=0.3722;Whole_Blood=Whole_Blood::0.304878::-0.163896;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1078.8,0,-1362.27:1343:699:612:18039:21361 0/1:-565.603,0,-829.603:787:424:347:9967:13006 . 0/1:-828.978,0,-897.273:959:457:478:13574:14365 . 1/1:-1851.13,-227.495,0:834:7:805:22860:199 . 0/1:-681.509,0,-718.556:795:386:394:11155:11591 0/1:-599.939,0,-549.571:673:312:346:10105:9467 1/1:-1657.66,-191.665,0:764:14:732:21073:382 0/1:-1134.96,0,-1171.21:1279:612:625:18330:18925 . 0/1:-1857.38,0,-1855.5:1997:955:989:29396:29731 . 0/1:-486.585,0,-539.427:612:295:301:8481:9068 0/1:-518.972,0,-657.133:684:351:309:8998:10595 0/1:-928.331,0,-1012.44:1096:544:530:15338:16720 0/1:-321.018,0,-517.516:496:269:204:5780:8283 0/1:-1112.52,0,-1019.27:1186:546:605:17740:17001 . 0/1:-441.54,0,-624.449:642:333:280:7997:10200 . 1/1:-2035.43,-226.894,0:928:19:886:25555:561 . . 0/1:-571.657,0,-878.54:820:438:346:9968:13704 . 0/1:-893.424,0,-996.808:1075:522:523:14828:16043 . . 1/1:-2278.95,-250.736,0:1029:25:974:28705:661 . 0/1:-790.954,0,-900.97:933:469:436:12765:14138 . 0/1:-438.935,0,-668.248:645:344:287:8075:10520 0/1:-903.092,0,-1144.4:1130:585:515:15048:17980 . 0/1:-746.214,0,-963.696:946:503:425:12393:15403 . . . 0/1:-714.817,0,-1041.8:1013:545:436:12495:16598 0/1:-435.145,0,-652.993:577:315:246:7168:10006 0/1:-590.302,0,-830.937:783:419:343:10050:12763 0/1:-895.451,0,-1133.64:1135:586:510:14847:17802 0/1:-877.489,0,-1130.28:1136:581:517:14737:17740 . 0/1:-1079.02,0,-1163.48:1230:605:586:17608:18768 0/1:-987.797,0,-1159.14:1182:587:558:16119:18167 . 0/1:-745.051,0,-739.467:809:384:412:11910:11883 0/1:-948.649,0,-1055.57:1122:555:536:15588:16892 . . . . 1/1:-2578.9,-281.632,0:1147:28:1100:31999:754 . . 1/1:-2531.07,-300.591,0:1149:17:1102:31472:459 0/1:-823.058,0,-959.136:1016:507:478:13904:15650 . . 0/1:-698.607,0,-700.14:804:377:400:11572:11550 0/1:-921.588,0,-831.069:1006:450:521:14988:13854 0/1:-718.383,0,-1036:981:534:425:12209:16243 . . . . . 0/1:-929.259,0,-977.66:1066:516:521:15187:15725 0/1:-802.907,0,-1100.98:1105:566:508:14015:17338 1/1:-1376.37,-164.864,0:614:6:590:17214:173 0/1:-485.963,0,-540.605:579:278:281:8194:8633 . 0/1:-1026.84,0,-985.417:1162:541:582:16999:16340 . 0/1:-717.008,0,-874.667:904:466:417:12321:14062 0/1:-619.603,0,-739.532:791:397:374:10656:12077 1/1:-1863.84,-218.38,0:852:12:816:23422:397 0/1:-471.576,0,-565.745:590:304:280:8151:9187 1/1:-2137.31,-234.339,0:1007:24:950:27386:746 . 0/1:-746.577,0,-702.712:865:393:429:12441:11837 0/1:-1099.58,0,-1134.77:1247:601:616:17760:18317 0/1:-707.503,0,-880.377:879:451:408:12023:14135 0/1:-961.235,0,-1116.26:1118:553:534:15536:17185 0/1:-774.511,0,-968.184:1010:519:457:12911:15675 0/1:-839.795,0,-1093.68:1070:566:484:14243:17380 . 0/1:-1038.65,0,-1199.24:1103:567:516:15833:17877:567,516 . . . 0/1:-771.75,0,-890.523:806:412:379:11733:13117:412,379 0/1:-1178.56,0,-1107.26:1148:558:570:17681:17136:558,570 0/1:-771.898,0,-1092.65:915:510:390:12187:15868:510,390 0/1:-1013.63,0,-924.493:968:458:492:15251:14279:458,492 0/1:-875.612,0,-1122.5:994:528:454:13746:16460:528,454 0/1:-943.444,0,-878.758:912:440:462:14217:13479:440,462 1/1:-2680.92,-281.646,0:1038:10:1012:31473:335:10,1012 . . . 0/1:-1046.01,0,-908.689:965:451:504:15722:14024:451,504 0/1:-910.619,0,-852.459:861:406:439:13652:12869:406,439 1/1:-2523.36,-252.822,0:1007:17:971:29971:525:17,971 0/1:-697.686,0,-994.618:849:469:361:11223:14648:469,361 . 0/1:-932.003,0,-1029.09:958:488:454:14269:15315:488,454 chr6 26091336 . T C 11495.00 . AB=0.467815;ABP=12.9345;AC=15;AF=0.5;AN=26;AO=516;CIGAR=1X;DP=12524;DPB=1103;DPRA=0;EPP=57.7011;EPPR=66.7413;GTI=0;LEN=1;MEANALT=3;MQM=39.8081;MQMR=39.9118;NS=1;NUMALT=1;ODDS=2287.4;PAIRED=0.97093;PAIREDR=0.991182;PAO=0;PQA=0;PQR=0;PRO=0;QA=15833;QR=17877;RO=567;RPL=369;RPP=210.411;RPPR=288.438;RPR=147;RUN=1;SAF=182;SAP=100.238;SAR=334;SF=1;SRF=204;SRP=99.8304;SRR=363;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.3458;esp6500siv2_ea=0.3356;esp6500siv2_all=0.3458;esp6500siv2_ea=0.3356;1000g2015aug_all=0.426717;avsnp147=rs2071303;Kaviar_AF=0.363973;Kaviar_AC=56271;Kaviar_AN=154602;ExAC_ALL=0.3686;ExAC_AFR=0.3756;ExAC_AMR=0.4126;ExAC_EAS=0.6788;ExAC_FIN=0.3539;ExAC_NFE=0.3205;ExAC_OTH=0.3996;ExAC_SAS=0.3693;CLNALLELEID=134671;CLNDN=Hereditary_hemochromatosis|not_specified;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.2239;dpsi_zscore=-2.204;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS991415#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.3746;gnomAD_exome_AFR=0.3745;gnomAD_exome_AMR=0.4131;gnomAD_exome_ASJ=0.3490;gnomAD_exome_EAS=0.6754;gnomAD_exome_FIN=0.3538;gnomAD_exome_NFE=0.3247;gnomAD_exome_OTH=0.3596;gnomAD_exome_SAS=0.3704;gnomAD_genome_ALL=0.3642;gnomAD_genome_AFR=0.3748;gnomAD_genome_AMR=0.4120;gnomAD_genome_ASJ=0.3411;gnomAD_genome_EAS=0.6552;gnomAD_genome_FIN=0.3763;gnomAD_genome_NFE=0.3213;gnomAD_genome_OTH=0.3722;Whole_Blood=Whole_Blood::0.304878::-0.163896;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1038.65,0,-1199.24:1103:567:516:15833:17877:567,516 . . . 0/1:-771.75,0,-890.523:806:412:379:11733:13117:412,379 0/1:-1178.56,0,-1107.26:1148:558:570:17681:17136:558,570 0/1:-771.898,0,-1092.65:915:510:390:12187:15868:510,390 0/1:-1013.63,0,-924.493:968:458:492:15251:14279:458,492 0/1:-875.612,0,-1122.5:994:528:454:13746:16460:528,454 0/1:-943.444,0,-878.758:912:440:462:14217:13479:440,462 1/1:-2680.92,-281.646,0:1038:10:1012:31473:335:10,1012 . . . 0/1:-1046.01,0,-908.689:965:451:504:15722:14024:451,504 0/1:-910.619,0,-852.459:861:406:439:13652:12869:406,439 1/1:-2523.36,-252.822,0:1007:17:971:29971:525:17,971 0/1:-697.686,0,-994.618:849:469:361:11223:14648:469,361 . 0/1:-932.003,0,-1029.09:958:488:454:14269:15315:488,454 chr6 26093049 . C T 12202.40 . AB=0.477964;ABP=9.80508;AC=1;AF=0.5;AN=2;AO=770;CIGAR=1X;DP=1611;DPB=1611;DPRA=0;EPP=134.585;EPPR=57.436;GTI=0;LEN=1;MEANALT=3;MQM=36.426;MQMR=36.0818;NS=1;NUMALT=1;ODDS=2809.71;PAIRED=0.916883;PAIREDR=0.910486;PAO=0;PQA=0;PQR=0;PRO=0;QA=20705;QR=23180;RO=782;RPL=431;RPP=26.8796;RPPR=18.2162;RPR=339;RUN=1;SAF=388;SAP=3.11182;SAR=382;SF=0;SRF=351;SRP=20.7819;SRR=431;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.C213T:p.F71F,HFE:NM_139003:exon3:c.C435T:p.F145F,HFE:NM_139004:exon3:c.C477T:p.F159F,HFE:NM_139007:exon3:c.C489T:p.F163F,HFE:NM_139008:exon3:c.C447T:p.F149F,HFE:NM_000410:exon4:c.C753T:p.F251F,HFE:NM_001300749:exon4:c.C753T:p.F251F,HFE:NM_139006:exon4:c.C711T:p.F237F,HFE:NM_139009:exon4:c.C684T:p.F228F;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3300;dpsi_zscore=-0.896;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.03e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.79e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1244.3,0,-1394.6:1611:782:770:20705:23180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 26093141 . G A 7160.51 . AB=0.430023;ABP=40.6949;AC=2;AF=0.5;AN=4;AO=381;CIGAR=1X;DP=1857;DPB=886;DPRA=0;EPP=109.982;EPPR=61.6309;GTI=0;LEN=1;MEANALT=3;MQM=36.4304;MQMR=35.6596;NS=1;NUMALT=1;ODDS=1445.68;PAIRED=0.955381;PAIREDR=0.917548;PAO=0;PQA=0;PQR=0;PRO=0;QA=11396;QR=14755;RO=473;RPL=249;RPP=81.0294;RPPR=23.6186;RPR=132;RUN=1;SAF=138;SAP=65.8462;SAR=243;SF=0;SRF=209;SRP=16.8976;SRR=264;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G305A:p.C102Y,HFE:NM_139003:exon3:c.G527A:p.C176Y,HFE:NM_139004:exon3:c.G569A:p.C190Y,HFE:NM_139007:exon3:c.G581A:p.C194Y,HFE:NM_139008:exon3:c.G539A:p.C180Y,HFE:NM_000410:exon4:c.G845A:p.C282Y,HFE:NM_001300749:exon4:c.G845A:p.C282Y,HFE:NM_139006:exon4:c.G803A:p.C268Y,HFE:NM_139009:exon4:c.G776A:p.C259Y;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0475;esp6500siv2_ea=0.0641;esp6500siv2_all=0.0475;esp6500siv2_ea=0.0641;1000g2015aug_all=0.0125799;avsnp147=rs1800562;Kaviar_AF=0.0349737;Kaviar_AC=5407;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.0101;ExAC_AMR=0.0115;ExAC_EAS=0.0001;ExAC_FIN=0.0322;ExAC_NFE=0.0514;ExAC_OTH=0.0220;ExAC_SAS=0.0023;CLNALLELEID=15048;CLNDN=Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided;CLNDISDB=.|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=4.445;MutationAssessor_pred=H;FATHMM_score=-3.68;FATHMM_pred=D;PROVEAN_score=-8.23;PROVEAN_pred=D;VEST3_score=0.993;CADD_raw=5.270;CADD_phred=25.7;DANN_score=0.994;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_pred=D;MetaSVM_score=1.073;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=5.35;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.669;phastCons20way_mammalian=0.895;SiPhy_29way_logOdds=14.751;GDI_full_10282015=.;dpsi_max_tissue=0.2971;dpsi_zscore=0.887;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM960828#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.0332;gnomAD_exome_AFR=0.0099;gnomAD_exome_AMR=0.0137;gnomAD_exome_ASJ=0.0115;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0350;gnomAD_exome_NFE=0.0573;gnomAD_exome_OTH=0.0354;gnomAD_exome_SAS=0.0022;gnomAD_genome_ALL=0.0378;gnomAD_genome_AFR=0.0102;gnomAD_genome_AMR=0.0288;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0352;gnomAD_genome_NFE=0.0593;gnomAD_genome_OTH=0.0387;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-662.902,0,-913.527:886:473:381:11396:14755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-835.934,0,-843.835:971:448:481:13779:13991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 26093474 . A G 5019.97 . AB=0.404027;ABP=62.6136;AC=1;AF=0.5;AN=2;AO=301;CIGAR=1X;DP=745;DPB=745;DPRA=0;EPP=43.5901;EPPR=39.0767;GTI=0;LEN=1;MEANALT=3;MQM=38.4751;MQMR=40.0782;NS=1;NUMALT=1;ODDS=1155.89;PAIRED=0.960133;PAIREDR=0.967816;PAO=0;PQA=0;PQR=0;PRO=0;QA=9386;QR=13701;RO=435;RPL=254;RPP=312.131;RPPR=375.051;RPR=47;RUN=1;SAF=88;SAP=115.732;SAR=213;SF=1;SRF=144;SRP=110.88;SRR=291;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000599042;avsnp147=rs201262562;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0014;ExAC_NFE=0.0011;ExAC_OTH=0.0022;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1399;dpsi_zscore=0.593;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-564.368,0,-953.586:745:435:301:9386:13701:435,301 . . . . . . . . . . . . . . . . . . chr6 26094367 . G A 2641.72 . AB=0;ABP=0;AC=127;AF=1;AN=190;AO=264;CIGAR=1X;DP=22824;DPB=283;DPRA=0;EPP=9.45891;EPPR=3.44459;GTI=0;LEN=1;MEANALT=3;MQM=36.7348;MQMR=37.8;NS=1;NUMALT=1;ODDS=331.37;PAIRED=0.977273;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=7027;QR=139;RO=5;RPL=62;RPP=164.226;RPPR=3.44459;RPR=202;RUN=1;SAF=204;SAP=173.57;SAR=60;SF=0,1;SRF=2;SRP=3.44459;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.5168;esp6500siv2_ea=0.4708;esp6500siv2_all=0.5168;esp6500siv2_ea=0.4708;1000g2015aug_all=0.590655;avsnp147=rs1572982;Kaviar_AF=0.504263;Kaviar_AC=77960;Kaviar_AN=154602;ExAC_ALL=0.5146;ExAC_AFR=0.6170;ExAC_AMR=0.5419;ExAC_EAS=0.7238;ExAC_FIN=0.4500;ExAC_NFE=0.4562;ExAC_OTH=0.5563;ExAC_SAS=0.5814;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS116812#"Iron_overload_trait_association_with";gnomAD_exome_ALL=0.5174;gnomAD_exome_AFR=0.6186;gnomAD_exome_AMR=0.5404;gnomAD_exome_ASJ=0.5798;gnomAD_exome_EAS=0.7179;gnomAD_exome_FIN=0.4537;gnomAD_exome_NFE=0.4553;gnomAD_exome_OTH=0.5042;gnomAD_exome_SAS=0.5805;gnomAD_genome_ALL=0.5191;gnomAD_genome_AFR=0.6106;gnomAD_genome_AMR=0.5562;gnomAD_genome_ASJ=0.5467;gnomAD_genome_EAS=0.7030;gnomAD_genome_FIN=0.4745;gnomAD_genome_NFE=0.4539;gnomAD_genome_OTH=0.5195;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-570.637,-69.4729,0:283:5:264:7027:139 . 1/1:-252.98,-35.1253,0:126:1:118:3065:21 0/1:-203.33,0,-182.463:268:118:134:3362:3238 0/1:-220.13,0,-248.166:284:134:135:3551:4016 0/1:-131.114,0,-150.909:184:87:88:2194:2535 0/1:-181.164,0,-290.06:289:155:121:3098:4560 0/1:-135.797,0,-193.58:200:98:97:2357:3014 1/1:-447.281,-51.7315,0:231:5:210:5608:163 1/1:-400.948,-48.4873,0:215:6:193:4902:168 . 0/1:-142.07,0,-180.136:195:92:93:2335:2771 0/1:-142.888,0,-214.244:232:118:101:2648:3445 1/1:-363.955,-46.5151,0:179:1:163:4320:32 0/1:-237.04,0,-266.725:314:149:150:4113:4216 0/1:-104.986,0,-190.546:195:103:81:1974:2930 1/1:-859.935,-98.0386,0:417:7:382:10254:230 . 1/1:-237.542,-33.7154,0:117:0:112:2894:0 1/1:-327.377,-45.1545,0:163:0:150:3944:0 1/1:-528.262,-61.6562,0:255:4:238:6487:136 0/1:-109.537,0,-96.075:137:57:74:1886:1607 0/1:-247.339,0,-205.623:277:122:148:3928:3460 0/1:-257.255,0,-206.515:289:118:158:4085:3501 1/1:-356.97,-52.3659,0:191:1:177:4478:14 0/1:-122.305,0,-237.687:229:124:92:2314:3695 1/1:-537.565,-69.4673,0:267:4:254:6678:92 0/1:-112.292,0,-102.975:145:65:70:1867:1809 . 0/1:-129.35,0,-187.764:192:99:85:2227:3041 . 1/1:-515.601,-60.8943,0:238:3:221:6107:73 1/1:-536.769,-66.7741,0:264:4:242:6518:118 1/1:-530.763,-67.8281,0:263:3:239:6292:64 1/1:-552.846,-65.7288,0:268:5:256:6831:145 . 0/1:-141.532,0,-265.841:255:140:106:2680:4043 0/1:-185.811,0,-195.337:237:117:111:3104:3214 0/1:-110.191,0,-144.886:154:77:69:1879:2266 1/1:-557.262,-75.3665,0:278:2:259:6817:41 . 0/1:-156.916,0,-208.955:226:112:104:2725:3376 0/1:-167.599,0,-228.717:238:117:106:2816:3497 . . 0/1:-158.372,0,-206.533:232:117:107:2738:3364 0/1:-99.2062,0,-150.833:158:78:68:1755:2309 0/1:-160.361,0,-209.706:219:107:101:2738:3196 0/1:-201.941,0,-300.022:313:164:135:3576:4533 0/1:-179.527,0,-205.079:236:118:108:2924:3333 0/1:-142.21,0,-203.984:225:115:99:2521:3280 0/1:-167.654,0,-337.366:303:166:126:3138:4963 0/1:-174.146,0,-273.135:275:147:116:3079:4249 0/1:-121.27,0,-199.141:198:108:86:2198:3200 1/1:-370.662,-52.1447,0:190:1:178:4432:21 0/1:-234.977,0,-253.566:304:142:150:3834:4207 . . 0/1:-147.699,0,-224.54:238:118:99:2474:3529 0/1:-102.501,0,-180.629:182:100:76:1936:2859 1/1:-613.133,-79.698,0:320:5:296:7507:123 . . 1/1:-548.326,-70.3789,0:274:3:256:6719:86 0/1:-210.997,0,-179.279:241:110:123:3284:3016 0/1:-54.4641,0,-125.858:124:75:46:1132:2041 . 0/1:-114.826,0,-216.519:216:118:86:2084:3395 0/1:-194.823,0,-170.476:222:96:113:3064:2846 0/1:-164.262,0,-245.587:267:142:110:2868:3919 . 0/1:-311.908,0,-226.369:328:130:177:4775:3992 1/1:-295.829,-47.5515,0:175:1:161:3880:14 0/1:-154.124,0,-152.856:181:84:89:2456:2524 . 0/1:-225.966,0,-288.43:320:161:141:3731:4526 0/1:-218.327,0,-304.417:321:163:143:3856:4806 1/1:-356.094,-47.3004,0:180:3:168:4423:49 1/1:-323.551,-44.247,0:175:2:150:3973:28 . 0/1:-201.307,0,-229.284:275:128:127:3339:3659 0/1:-198.622,0,-251.048:274:130:132:3275:3889 1/1:-581.832,-75.8682,0:296:4:273:7049:114 0/1:-161.101,0,-146.959:200:89:102:2693:2534 1/1:-403.728,-48.7951,0:213:5:194:5027:130 0/1:-145.338,0,-147.5:197:93:92:2343:2648 1/1:-548.394,-73.3461,0:283:3:259:6742:73 0/1:-116.307,0,-114.381:137:59:75:1909:1810 0/1:-182.299,0,-208.751:230:108:103:3009:3294 0/1:-244.246,0,-332.004:360:184:155:4145:5268 0/1:-118.359,0,-199.705:190:101:77:2075:2957 1/1:-660.8,-78.8919,0:311:4:289:7875:118 0/1:-154.024,0,-276.96:269:147:107:2783:4289 0/1:-266.462,0,-225.589:288:125:147:4140:3750 . 0/1:-264.029,0,-281.406:275:136:132:3989:4178:136,132 . . 1/1:-426.908,-43.5242,0:179:4:170:5183:100:4,170 1/1:-511.222,-45.7246,0:216:6:205:6140:200:6,205 0/1:-263.915,0,-372.888:335:179:143:4190:5453:179,143 0/1:-243.639,0,-285.055:268:136:121:3680:4192:136,121 0/1:-277.87,0,-285.091:292:140:145:4183:4212:140,145 1/1:-705.379,-79.3178,0:276:1:273:8118:36:1,273 0/1:-133.551,0,-270.519:217:127:81:2260:3848:127,81 1/1:-840.927,-92.4054,0:332:2:324:9851:64:2,324 0/1:-194.911,0,-213.221:201:100:97:2892:3201:100,97 0/1:-236.815,0,-239.831:264:120:129:3639:3618:120,129 0/1:-179.772,0,-288.829:239:132:103:2966:4151:132,103 0/1:-246.769,0,-236.738:242:118:121:3665:3578:118,121 1/1:-569.457,-67.1297,0:229:0:223:6572:0:0,223 1/1:-814.789,-92.8394,0:334:2:321:9563:50:2,321 0/1:-212.549,0,-332.907:266:150:115:3365:4730:150,115 0/1:-200.19,0,-244.508:224:120:99:3062:3604:120,99 0/1:-160.942,0,-229.694:200:108:90:2556:3376:108,90 chr6 26094383 . T G 2304.88 . AB=0.537906;ABP=6.46741;AC=1;AF=0.5;AN=2;AO=149;CIGAR=1X;DP=277;DPB=277;DPRA=0;EPP=3.14146;EPPR=14.8483;GTI=0;LEN=1;MEANALT=3;MQM=36.7248;MQMR=36.2419;NS=1;NUMALT=1;ODDS=397.315;PAIRED=0.939597;PAIREDR=0.967742;PAO=0;PQA=0;PQR=0;PRO=0;QA=4114;QR=3359;RO=124;RPL=18;RPP=189.101;RPPR=98.9053;RPR=131;RUN=1;SAF=84;SAP=8.27138;SAR=65;SF=0;SRF=74;SRP=13.0971;SRR=50;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000199681;avsnp147=rs200919231;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=8.64e-05;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0006;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0024;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-259.216,0,-192.156:277:124:149:4114:3359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76540112 . G A 4205.12 . AB=0.472028;ABP=6.89769;AC=1;AF=0.5;AN=2;AO=270;CIGAR=1X;DP=572;DPB=572;DPRA=0;EPP=126.672;EPPR=116.018;GTI=0;LEN=1;MEANALT=3;MQM=40.5556;MQMR=41.2622;NS=1;NUMALT=1;ODDS=968.265;PAIRED=0.996296;PAIREDR=0.982517;PAO=0;PQA=0;PQR=0;PRO=0;QA=7055;QR=8072;RO=286;RPL=147;RPP=7.64277;RPPR=4.954;RPR=123;RUN=1;SAF=174;SAP=51.9408;SAR=96;SF=0;SRF=175;SRP=34.1094;SRR=111;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0159744;avsnp147=rs79662925;Kaviar_AF=0.0076454;Kaviar_AC=1182;Kaviar_AN=154602;ExAC_ALL=0.0086;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0623;ExAC_FIN=0.0381;ExAC_NFE=0.0028;ExAC_OTH=0.0210;ExAC_SAS=0.0028;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0016;dpsi_zscore=0.017;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0086;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.951e-05;gnomAD_exome_ASJ=0.0024;gnomAD_exome_EAS=0.0617;gnomAD_exome_FIN=0.0337;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0533;gnomAD_genome_FIN=0.0373;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-446.223,0,-542.261:572:286:270:7055:8072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76545684 . T C 10695.89 . AB=0.489583;ABP=4.18651;AC=28;AF=0.5;AN=52;AO=611;CIGAR=1X;DP=27127;DPB=1248;DPRA=0;EPP=71.6765;EPPR=145.462;GTI=0;LEN=1;MEANALT=3;MQM=40.4697;MQMR=40.3103;NS=1;NUMALT=1;ODDS=2802.08;PAIRED=0.983633;PAIREDR=0.980707;PAO=0;PQA=0;PQR=0;PRO=0;QA=18511;QR=19389;RO=622;RPL=305;RPP=3.01385;RPPR=3.13598;RPR=306;RUN=1;SAF=345;SAP=25.1906;SAR=266;SF=0,1;SRF=324;SRP=5.37029;SRR=298;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.1381;esp6500siv2_ea=0.1521;esp6500siv2_all=0.1381;esp6500siv2_ea=0.1521;1000g2015aug_all=0.102636;avsnp147=rs12210963;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;ExAC_ALL=0.1215;ExAC_AFR=0.1130;ExAC_AMR=0.0738;ExAC_EAS=0.0278;ExAC_FIN=0.1285;ExAC_NFE=0.1482;ExAC_OTH=0.1563;ExAC_SAS=0.0968;CLNALLELEID=54331;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2046;dpsi_zscore=0.731;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1182;gnomAD_exome_AFR=0.1136;gnomAD_exome_AMR=0.0785;gnomAD_exome_ASJ=0.1033;gnomAD_exome_EAS=0.0249;gnomAD_exome_FIN=0.1326;gnomAD_exome_NFE=0.1492;gnomAD_exome_OTH=0.1343;gnomAD_exome_SAS=0.0951;gnomAD_genome_ALL=0.1308;gnomAD_genome_AFR=0.1183;gnomAD_genome_AMR=0.0811;gnomAD_genome_ASJ=0.13;gnomAD_genome_EAS=0.0278;gnomAD_genome_FIN=0.1431;gnomAD_genome_NFE=0.1487;gnomAD_genome_OTH=0.1385;Whole_Blood=Whole_Blood::0.166667::0.113493;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-1234.2,0,-1296.81:1248:622:611:18511:19389 0/1:-1033.52,0,-1192.18:1099:558:521:15710:17588 . . . . . . 0/1:-2274.49,0,-2318.01:2202:1068:1103:33775:34347 . . 0/1:-846.754,0,-1091.27:944:500:434:13094:15957 . . 0/1:-1209.07,0,-1510.57:1308:702:595:18349:22090 . . . . . . . 0/1:-1460.39,0,-1455:1422:689:720:21677:21721 . 0/1:-714.513,0,-1090.59:868:498:365:11253:15549 0/1:-1379.67,0,-1395.98:1327:646:673:20633:20627 . . 0/1:-1474.82,0,-1374.58:1365:643:703:21798:20560 . . . 0/1:-978.041,0,-1145.43:1034:528:488:14779:16729 . . . . 0/1:-1193.66,0,-1239.36:1185:575:594:17942:18373 . 0/1:-934.892,0,-995.174:939:464:464:13966:14823 . . . 0/1:-1291.3,0,-1670.73:1421:767:645:19927:24354 0/1:-1393.07,0,-1371.84:1322:646:663:20579:20402 . 0/1:-869.843,0,-874.981:824:402:410:12797:12838 0/1:-1201.81,0,-1246.07:1195:582:594:18059:18637 . 0/1:-752.653,0,-903.205:825:427:389:11562:13338 . . 0/1:-1330.65,0,-1580.57:1390:729:651:20149:23061 . 0/1:-915.46,0,-911.357:909:436:465:13697:13563 . . . . . . . . . . . . . . . . . . . 0/1:-898.556,0,-1159.86:1011:533:467:14010:16926 . . . . . . . 0/1:-873.492,0,-1145.22:984:528:444:13481:16675 . . . . . . . . . . . 0/1:-409.122,0,-560.071:430:235:193:6186:7887:235,193 . . . . . . 1/1:-1247.76,-121.434,0:461:5:450:14494:176:5,450 . 1/1:-1401.99,-113.977,0:547:17:523:16649:564:17,523 . 0/1:-366.262,0,-573.261:433:245:183:5642:8097:245,183 0/1:-443.763,0,-540.705:434:228:203:6542:7648:228,203 chr6 76554593 . G A 18974.34 . AB=0;ABP=0;AC=229;AF=1;AN=230;AO=966;CIGAR=1X;DP=90849;DPB=977;DPRA=0;EPP=236.082;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=40.5321;MQMR=0;NS=1;NUMALT=1;ODDS=1342.16;PAIRED=0.97619;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=27317;QR=0;RO=0;RPL=446;RPP=15.3198;RPPR=0;RPR=520;RUN=1;SAF=634;SAP=208.028;SAR=332;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.9898;esp6500siv2_ea=0.9868;esp6500siv2_all=0.9898;esp6500siv2_ea=0.9868;1000g2015aug_all=0.997804;avsnp147=rs7760587;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;ExAC_ALL=0.9909;ExAC_AFR=0.9972;ExAC_AMR=0.9964;ExAC_EAS=1;ExAC_FIN=0.9940;ExAC_NFE=0.9853;ExAC_OTH=0.9945;ExAC_SAS=0.9996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5037;dpsi_zscore=1.136;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9919;gnomAD_exome_AFR=0.9975;gnomAD_exome_AMR=0.9961;gnomAD_exome_ASJ=0.9997;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9930;gnomAD_exome_NFE=0.9856;gnomAD_exome_OTH=0.9929;gnomAD_exome_SAS=0.9994;gnomAD_genome_ALL=0.9926;gnomAD_genome_AFR=0.9987;gnomAD_genome_AMR=0.9976;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9934;gnomAD_genome_NFE=0.9873;gnomAD_genome_OTH=0.9959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2371.47,-290.795,0:977:0:966:27317:0 1/1:-2733.22,-325.413,0:1089:0:1081:31363:0 1/1:-2501.99,-298.622,0:1001:0:992:28748:0 1/1:-1555.73,-189.047,0:637:0:628:17928:0 1/1:-2230.43,-276.948,0:927:0:920:25934:0 1/1:-2477.28,-305.545,0:1022:0:1015:28776:0 1/1:-2043.81,-251.36,0:845:0:835:23684:0 1/1:-2070.32,-257.682,0:861:0:856:23877:0 1/1:-1796.07,-218.849,0:732:0:727:20725:0 1/1:-2507.2,-307.954,0:1031:0:1023:28932:0 1/1:-2274.82,-279.055,0:938:0:927:26213:0 1/1:-2087.15,-257.381,0:857:0:855:24298:0 1/1:-2093.8,-262.197,0:875:0:871:24234:0 1/1:-1905.02,-232.395,0:776:0:772:21896:0 1/1:-2024.45,-245.64,0:823:0:816:23445:0 1/1:-2874.95,-347.931,0:1166:1:1159:33162:14 1/1:-1881.56,-230.589,0:772:0:766:21693:0 1/1:-3786.93,-454.856,0:1522:0:1511:43549:0 1/1:-2376.65,-295.009,0:988:0:980:27496:0 1/1:-1749.44,-216.441,0:727:0:719:20170:0 1/1:-1614.13,-200.787,0:672:0:667:18752:0 1/1:-2745.86,-333.842,0:1120:0:1109:31580:0 1/1:-1445.45,-178.812,0:599:0:594:16817:0 1/1:-2627.06,-319.393,0:1070:0:1061:30409:0 1/1:-2705.91,-326.015,0:1091:0:1083:31047:0 1/1:-2021.55,-247.447,0:829:0:822:23377:0 1/1:-2149.93,-260.391,0:874:0:865:24735:0 1/1:-2379.74,-293.203,0:978:0:974:27416:0 1/1:-1933.73,-242.329,0:810:0:805:22463:0 1/1:-1649.14,-197.476,0:658:0:656:18933:0 1/1:-2095.51,-253.768,0:851:0:843:24107:0 1/1:-2934.59,-354.312,0:1190:0:1177:33843:0 1/1:-2483.35,-304.642,0:1015:0:1012:28738:0 1/1:-1463.75,-176.404,0:595:0:586:16929:0 1/1:-2505.16,-301.03,0:1009:0:1000:28971:0 1/1:-2522.36,-310.362,0:1037:0:1031:29168:0 1/1:-1577.23,-198.379,0:664:0:659:18158:0 1/1:-2668.63,-321.175,0:1085:1:1074:30896:27 1/1:-2414.26,-300.428,0:1004:0:998:27846:0 1/1:-1296.73,-157.138,0:527:0:522:14993:0 1/1:-2643.03,-317.288,0:1086:2:1072:30476:68 1/1:-1693.67,-205.905,0:691:0:684:19611:0 1/1:-2156.83,-259.789,0:869:0:863:24890:0 1/1:-2241.21,-270.626,0:904:0:899:25729:0 1/1:-3027.07,-369.063,0:1238:0:1226:34912:0 1/1:-2551.71,-313.372,0:1045:0:1041:29422:0 1/1:-2079.98,-251.962,0:846:0:837:23859:0 1/1:-1273.56,-155.331,0:518:0:516:14802:0 1/1:-2052.18,-252.865,0:848:0:840:23729:0 1/1:-2563.49,-307.898,0:1053:3:1044:29827:82 1/1:-2131.23,-258.585,0:865:0:859:24588:0 1/1:-2209.42,-272.432,0:912:0:905:25433:0 1/1:-2599.12,-314.974,0:1070:2:1058:29796:46 1/1:-2092.3,-259.187,0:872:0:861:24171:0 1/1:-1663.37,-203.496,0:681:0:676:19104:0 1/1:-1609.89,-197.175,0:659:0:655:18537:0 1/1:-2009.37,-247.146,0:828:0:821:23068:0 1/1:-1463.09,-180.919,0:606:0:601:17036:0 1/1:-1813.16,-216.851,0:746:2:737:20929:63 1/1:-1867.81,-226.375,0:756:0:752:21579:0 1/1:-1575.25,-193.562,0:649:0:643:18190:0 1/1:-2704.2,-314.801,0:1076:3:1067:31077:82 1/1:-1679.03,-206.507,0:687:0:686:19326:0 1/1:-2035.35,-252.263,0:842:0:838:23487:0 1/1:-2897.12,-352.205,0:1178:0:1170:33381:0 1/1:-2358.05,-287.785,0:958:0:956:27269:0 1/1:-1607.13,-200.921,0:684:1:677:18932:36 1/1:-2568.09,-311.983,0:1051:1:1046:29557:36 1/1:-1647.63,-199.884,0:672:0:664:19063:0 1/1:-2440.1,-299.826,0:1005:0:996:28224:0 1/1:-2033.39,-249.554,0:838:0:829:23468:0 1/1:-2837.06,-340.465,0:1136:0:1131:32772:0 1/1:-2708.42,-325.395,0:1102:1:1088:31296:27 0/1:-447.307,0,-631.771:626:323:286:7234:9344 1/1:-2179.77,-265.508,0:890:0:882:25273:0 1/1:-2581.43,-313.918,0:1054:1:1046:29875:14 1/1:-2335.19,-284.572,0:957:1:950:26871:21 1/1:-2549.45,-309.402,0:1040:1:1031:29364:14 1/1:-1731.07,-211.323,0:713:0:702:19843:0 1/1:-1831.06,-216.638,0:727:1:721:21145:27 1/1:-2501.53,-300.127,0:1002:0:997:28683:0 1/1:-2243.27,-269.066,0:902:1:897:25947:14 1/1:-2489.45,-303.438,0:1013:0:1008:28706:0 1/1:-2076.38,-246.544,0:829:0:819:23941:0 1/1:-1868.46,-230.589,0:773:0:766:21635:0 1/1:-1971.88,-242.028,0:809:0:804:22840:0 1/1:-2002.23,-242.329,0:811:0:805:23071:0 1/1:-2930.94,-351.302,0:1174:0:1167:33898:0 1/1:-1526.15,-186.639,0:631:0:620:17607:0 1/1:-2760.19,-331.133,0:1105:0:1100:31767:0 1/1:-2934.32,-357.022,0:1195:0:1186:34111:0 1/1:-2052.67,-250.214,0:838:1:831:23767:14 1/1:-2489.57,-304.642,0:1016:0:1012:28893:0 1/1:-1882.55,-231.191,0:773:0:768:21602:0 1/1:-2610.14,-321.199,0:1071:0:1067:30118:0 . 1/1:-737.788,-84.342,0:295:2:292:8510:46:2,292 1/1:-697.316,-83.3853,0:278:0:277:8038:0:0,277 1/1:-807.543,-87.8479,0:315:2:310:9322:68:2,310 1/1:-408.409,-49.67,0:166:0:165:4694:0:0,165 1/1:-648.901,-75.8596,0:253:0:252:7426:0:0,252 1/1:-789.23,-92.205,0:309:1:306:9156:14:1,306 1/1:-765.495,-89.4059,0:299:0:297:8729:0:0,297 1/1:-806.61,-93.9214,0:313:0:312:9289:0:0,312 1/1:-757.366,-88.5028,0:296:0:294:8772:0:0,294 1/1:-639.434,-72.8493,0:243:0:242:7333:0:0,242 1/1:-886.774,-104.758,0:350:0:348:10258:0:0,348 1/1:-712.61,-80.9771,0:271:0:269:8140:0:0,269 1/1:-661.879,-78.8699,0:262:0:262:7563:0:0,262 1/1:-694.799,-80.676,0:268:0:268:8010:0:0,268 1/1:-656.744,-74.9565,0:250:0:249:7502:0:0,249 1/1:-773.368,-90.61,0:304:0:301:8820:0:0,301 1/1:-850.756,-95.6951,0:340:2:338:9920:72:2,338 1/1:-803.93,-92.7172,0:311:0:308:9309:0:0,308 1/1:-831.925,-95.1255,0:316:0:316:9489:0:0,316 1/1:-641.786,-73.7524,0:246:0:245:7409:0:0,245 chr6 76558260 . ATTTTTTTAAG ATTTTTTTTAAG 2665.49 . AB=0.457207;ABP=10.0725;AC=16;AF=0.5;AN=32;AO=203;CIGAR=1M1I8M;DP=6919;DPB=477;DPRA=0;EPP=22.7889;EPPR=70.4735;GTI=0;LEN=1;MEANALT=24;MQM=39.5567;MQMR=40.6942;NS=1;NUMALT=1;ODDS=650.447;PAIRED=0.975369;PAIREDR=0.995146;PAO=10;PQA=226;PQR=226;PRO=10;QA=4847;QR=5722;RO=206;RPL=102;RPP=3.021;RPPR=4.52822;RPR=101;RUN=1;SAF=106;SAP=3.87675;SAR=97;SF=0,1;SRF=92;SRP=8.11221;SRR=114;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0798;esp6500siv2_ea=0.0583;esp6500siv2_all=0.0798;esp6500siv2_ea=0.0583;1000g2015aug_all=0.139577;avsnp147=rs144408691;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;ExAC_ALL=0.0894;ExAC_AFR=0.1230;ExAC_AMR=0.0780;ExAC_EAS=0.2950;ExAC_FIN=0.0769;ExAC_NFE=0.0582;ExAC_OTH=0.0759;ExAC_SAS=0.1009;CLNALLELEID=252536;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0872;gnomAD_exome_AFR=0.1201;gnomAD_exome_AMR=0.0717;gnomAD_exome_ASJ=0.0477;gnomAD_exome_EAS=0.2995;gnomAD_exome_FIN=0.0810;gnomAD_exome_NFE=0.0576;gnomAD_exome_OTH=0.0790;gnomAD_exome_SAS=0.0961;gnomAD_genome_ALL=0.0932;gnomAD_genome_AFR=0.1231;gnomAD_genome_AMR=0.0601;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.3071;gnomAD_genome_FIN=0.0914;gnomAD_genome_NFE=0.0565;gnomAD_genome_OTH=0.0820;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:.,.,-368.845:444:206:203:4847:5722 . . . . 0/1:.,.,-423.03:421:213:171:4284:6172 . . . . . . . 0/1:.,.,-334.119:327:171:126:3006:4867 . . 0/1:.,.,-301.492:351:163:154:3798:4614 . . . . . 0/1:.,.,-297.118:357:161:154:3645:4534 . 0/1:.,.,-456.235:442:229:181:4462:6729 . . 0/1:.,.,-296.384:315:154:138:3068:4373 . . . . . . . . . . . . . . . . 0/1:.,.,-443.348:429:224:172:4215:6465 . . . 0/1:.,.,-376.996:383:194:155:3528:5607 . . . . . . . . 0/1:.,.,-358.234:410:187:174:4307:5414 . . . . . . . 0/1:.,.,-482.849:474:248:197:4744:7186 0/1:.,.,-643.45:638:325:241:5970:9330 . . . . . . . . . . . 0/1:.,.,-364.259:411:190:192:4923:5531 . . . . 0/1:.,.,-500.153:534:263:239:5998:7488 . . . . . . . . . . . . . . 0/1:-399.319,0,-485.279:492:225:229:6102:7071:225,229 . . . 0/1:-328.959,0,-531.713:491:247:202:5256:7598:247,202 . . . . . . . chr6 76570815 . ATGT AT 4681.43 . AB=0.425345;ABP=41.5928;AC=2;AF=0.5;AN=4;AO=339;CIGAR=1M2D1M;DP=1701;DPB=687.75;DPRA=0;EPP=5.83514;EPPR=23.0426;GTI=0;LEN=2;MEANALT=10;MQM=39.6785;MQMR=40.7162;NS=1;NUMALT=1;ODDS=834.704;PAIRED=0.967552;PAIREDR=0.952703;PAO=107.5;PQA=3376.5;PQR=3604.5;PRO=116.5;QA=8705;QR=13911;RO=444;RPL=123;RPP=58.4117;RPPR=110.136;RPR=216;RUN=1;SAF=221;SAP=70.9665;SAR=118;SF=0;SRF=288;SRP=88.2259;SRR=156;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-385.965,0,-859.667:797:444:339:8705:13911 . . . . . . 0/1:-596.168,0,-751.592:904:418:453:11687:13013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76572422 . G A 13174.60 . AB=0.512126;ABP=4.80076;AC=1;AF=0.5;AN=2;AO=718;CIGAR=1X;DP=1402;DPB=1402;DPRA=0;EPP=62.2873;EPPR=43.0092;GTI=0;LEN=1;MEANALT=3;MQM=39.9081;MQMR=40.2791;NS=1;NUMALT=1;ODDS=2632.71;PAIRED=0.987465;PAIREDR=0.979845;PAO=0;PQA=0;PQR=0;PRO=0;QA=20109;QR=18238;RO=645;RPL=359;RPP=3.0103;RPPR=3.57926;RPR=359;RUN=1;SAF=314;SAP=27.5074;SAR=404;SF=0;SRF=248;SRP=77.7527;SRR=397;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon16:c.G1656A:p.K552K,MYO6:NM_004999:exon16:c.G1656A:p.K552K;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00439297;avsnp147=rs111033431;Kaviar_AF=0.0013066;Kaviar_AC=202;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0135;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=54305;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0047;dpsi_zscore=0.033;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0143;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.271e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0039;gnomAD_genome_AFR=0.0135;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-1334.96,0,-1164:1402:645:718:20109:18238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76576264 . G A 9663.90 . AB=0.497949;ABP=3.05483;AC=1;AF=0.5;AN=2;AO=607;CIGAR=1X;DP=1219;DPB=1219;DPRA=0;EPP=62.5416;EPPR=66.9669;GTI=0;LEN=1;MEANALT=3;MQM=38.5206;MQMR=39.5009;NS=1;NUMALT=1;ODDS=2208.25;PAIRED=0.976936;PAIREDR=0.968142;PAO=0;PQA=0;PQR=0;PRO=0;QA=16040;QR=15931;RO=565;RPL=194;RPP=174.585;RPPR=164.526;RPR=413;RUN=1;SAF=213;SAP=120.209;SAR=394;SF=0;SRF=178;SRP=170.89;SRR=387;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon17:c.G1696A:p.A566T,MYO6:NM_004999:exon17:c.G1696A:p.A566T;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.361;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_pred=D;MutationAssessor_score=0.47;MutationAssessor_pred=N;FATHMM_score=-2.22;FATHMM_pred=D;PROVEAN_score=-0.03;PROVEAN_pred=N;VEST3_score=0.113;CADD_raw=2.759;CADD_phred=21.1;DANN_score=0.970;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.723;MetaSVM_pred=T;MetaLR_score=0.271;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.53;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=13.223;GDI_full_10282015=.;dpsi_max_tissue=0.1421;dpsi_zscore=0.598;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1010.21,0,-1007.51:1219:565:607:16040:15931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76576290 . C T 9579.67 . AB=0.496725;ABP=3.09564;AC=13;AF=0.5;AN=26;AO=455;CIGAR=1X;DP=13652;DPB=916;DPRA=0;EPP=57.6503;EPPR=42.8043;GTI=0;LEN=1;MEANALT=3;MQM=39.1692;MQMR=39.1244;NS=1;NUMALT=1;ODDS=1851.56;PAIRED=0.949451;PAIREDR=0.954751;PAO=0;PQA=0;PQR=0;PRO=0;QA=12800;QR=12979;RO=442;RPL=186;RPP=35.8878;RPPR=25.7272;RPR=269;RUN=1;SAF=178;SAP=49.7852;SAR=277;SF=0,1;SRF=167;SRP=60.3136;SRR=275;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon17:c.C1722T:p.D574D,MYO6:NM_004999:exon17:c.C1722T:p.D574D;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0435;esp6500siv2_ea=0.0609;esp6500siv2_all=0.0435;esp6500siv2_ea=0.0609;1000g2015aug_all=0.0289537;avsnp147=rs11756446;Kaviar_AF=0.0509178;Kaviar_AC=7872;Kaviar_AN=154602;ExAC_ALL=0.0519;ExAC_AFR=0.0091;ExAC_AMR=0.0261;ExAC_EAS=0.0178;ExAC_FIN=0.0646;ExAC_NFE=0.0624;ExAC_OTH=0.0595;ExAC_SAS=0.0667;CLNALLELEID=54307;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0786;dpsi_zscore=-0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0513;gnomAD_exome_AFR=0.0093;gnomAD_exome_AMR=0.0247;gnomAD_exome_ASJ=0.0703;gnomAD_exome_EAS=0.0193;gnomAD_exome_FIN=0.0643;gnomAD_exome_NFE=0.0615;gnomAD_exome_OTH=0.0545;gnomAD_exome_SAS=0.0660;gnomAD_genome_ALL=0.0416;gnomAD_genome_AFR=0.0089;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0136;gnomAD_genome_FIN=0.0650;gnomAD_genome_NFE=0.0583;gnomAD_genome_OTH=0.0450;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-825.528,0,-827.324:916:442:455:12800:12979 . . . . . 0/1:-696.941,0,-609.511:696:331:354:10627:9672 . . . 0/1:-1023.75,0,-950.571:1072:503:543:15596:14864 . . . . . . . . . 0/1:-912.144,0,-1126.41:1078:579:479:14188:16842 . . . . . 0/1:-1075.08,0,-1070.39:1105:539:551:16359:16200 . 0/1:-1498.37,0,-1389.49:1505:723:757:22719:21277 . . . . . . 0/1:-1070.59,0,-1111.16:1165:572:572:16526:16824 . . . . . . . . 0/1:-672.638,0,-662.731:719:333:367:10481:10015 . . . 0/1:-1123.81,0,-1428.36:1305:687:596:17571:21116 . . . . 0/1:-1019.63,0,-1200.35:1182:609:551:16059:17797 . . . . . . . . . . . . . . 0/1:-879.069,0,-937.927:965:482:457:13479:14345 . . . . . . . . . . . . . . . . . . . . . . 0/1:-911.001,0,-1018.94:930:470:436:13651:15020:470,436 . . . . . . 0/1:-1122.91,0,-931.502:1014:469:529:16303:14201:469,529 . chr6 76589518 . T C 8869.01 . AB=0.520124;ABP=7.55493;AC=2;AF=0.5;AN=4;AO=672;CIGAR=1X;DP=1791;DPB=1292;DPRA=0;EPP=12.4329;EPPR=24.5039;GTI=0;LEN=1;MEANALT=3;MQM=39.8482;MQMR=39.606;NS=1;NUMALT=1;ODDS=2758.83;PAIRED=0.965774;PAIREDR=0.953255;PAO=0;PQA=0;PQR=0;PRO=0;QA=20082;QR=18941;RO=599;RPL=273;RPP=54.3113;RPPR=90.1048;RPR=399;RUN=1;SAF=384;SAP=32.7905;SAR=288;SF=0;SRF=358;SRP=52.6352;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000798722;avsnp147=rs188730005;Kaviar_AF=0.0012742;Kaviar_AC=197;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0003;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0018;ExAC_OTH=0;ExAC_SAS=0.0008;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0427;dpsi_zscore=-0.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0032;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1345.94,0,-1223.1:1292:599:672:20082:18941 . . . . . . . 0/1:-461.139,0,-489.548:499:247:241:7120:7467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76596587 . C T 2732.17 . AB=0.433846;ABP=15.3643;AC=1;AF=0.5;AN=2;AO=141;CIGAR=1X;DP=325;DPB=325;DPRA=0;EPP=3.0257;EPPR=4.21667;GTI=0;LEN=1;MEANALT=3;MQM=40.5461;MQMR=41.0722;NS=1;NUMALT=1;ODDS=629.106;PAIRED=0.950355;PAIREDR=0.955556;PAO=0;PQA=0;PQR=0;PRO=0;QA=4486;QR=5879;RO=180;RPL=36;RPP=76.3321;RPPR=62.1226;RPR=105;RUN=1;SAF=96;SAP=43.067;SAR=45;SF=1;SRF=126;SRP=65.5487;SRR=54;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon25:c.C2534T:p.T845I,MYO6:NM_004999:exon25:c.C2534T:p.T845I;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0062;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0062;1000g2015aug_all=0.00139776;avsnp147=rs55662069;Kaviar_AF=0.0025808;Kaviar_AC=399;Kaviar_AN=154602;ExAC_ALL=0.0024;ExAC_AFR=0.0010;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0040;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=54311;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.045;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.735;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=1.98;FATHMM_pred=T;PROVEAN_score=-2.47;PROVEAN_pred=N;VEST3_score=0.438;CADD_raw=3.765;CADD_phred=23.4;DANN_score=0.999;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=0.394;MetaSVM_pred=D;MetaLR_score=0.683;MetaLR_pred=D;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.931;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.346;GDI_full_10282015=.;dpsi_max_tissue=0.0381;dpsi_zscore=0.240;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0043;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0046;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0046;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-292.308,0,-415.366:325:180:141:4486:5879:180,141 . . . . . . . . . chr6 76596728 . C T,A 4917.79 . AB=0.497015;ABP=3.06216;AC=72,0;AF=0.5;AN=128;AO=333;CIGAR=1X;DP=31323;DPB=670;DPRA=0;EPP=80.4856;EPPR=42.7971;GTI=0;LEN=1;MEANALT=3;MQM=40.3904;MQMR=40.7785;NS=1;NUMALT=1;ODDS=1183.67;PAIRED=0.987988;PAIREDR=0.970684;PAO=0;PQA=0;PQR=0;PRO=0;QA=8759;QR=8293;RO=307;RPL=155;RPP=6.45988;RPPR=5.05445;RPR=178;RUN=1;SAF=119;SAP=61.8618;SAR=214;SF=0,1;SRF=113;SRP=49.4176;SRR=194;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.2413;esp6500siv2_ea=0.3349;esp6500siv2_all=0.2413;esp6500siv2_ea=0.3349;1000g2015aug_all=0.147764;avsnp147=rs2295936;Kaviar_AF=0.251691;Kaviar_AC=38912;Kaviar_AN=154602;ExAC_ALL=0.2512;ExAC_AFR=0.0540;ExAC_AMR=0.1402;ExAC_EAS=0.0524;ExAC_FIN=0.2478;ExAC_NFE=0.3227;ExAC_OTH=0.2544;ExAC_SAS=0.2667;CLNALLELEID=54314;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0234;dpsi_zscore=0.158;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2503;gnomAD_exome_AFR=0.0504;gnomAD_exome_AMR=0.1414;gnomAD_exome_ASJ=0.3083;gnomAD_exome_EAS=0.0506;gnomAD_exome_FIN=0.2460;gnomAD_exome_NFE=0.3302;gnomAD_exome_OTH=0.2777;gnomAD_exome_SAS=0.2708;gnomAD_genome_ALL=0.2193;gnomAD_genome_AFR=0.0584;gnomAD_genome_AMR=0.1831;gnomAD_genome_ASJ=0.3013;gnomAD_genome_EAS=0.0614;gnomAD_genome_FIN=0.2365;gnomAD_genome_NFE=0.3225;gnomAD_genome_OTH=0.2771;Whole_Blood=Whole_Blood::0.290761::-0.23592;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0235;dpsi_zscore=0.158;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-570.15,0,-530.708,.,.,.:670:307:333,.:8759,.:8293 0/1:-469.59,0,-446.585,.,.,.:544:265:262,.:7204,.:6879 0/1:-287.049,0,-319.4,.,.,.:387:188:173,.:4503,.:4894 1/1:-1175.25,-148.78,0,.,.,.:536:5:520,.:13577,.:103 . 0/1:-490.06,0,-407.654,.,.,.:543:234:285,.:7487,.:6469 1/1:-979.399,-106.291,0,.,.,.:458:16:437,.:11632,.:341 0/1:-343.801,0,-347.52,.,.,.:431:205:201,.:5313,.:5298 0/1:-545.713,0,-454.229,.,.,.:604:271:305,.:8193,.:7190 . . 0/1:-398.348,0,-403.063,.,.,.:478:230:231,.:6136,.:6176 0/1:-335.677,0,-372.198,.,.,.:442:214:205,.:5309,.:5728 . . 0/1:-338.408,0,-354.05,.,.,.:440:216:206,.:5270,.:5510 0/1:-744.939,0,-858.233,.,.,.:946:475:430,.:11638,.:12883 0/1:-499.83,0,-408.749,.,.,.:560:251:280,.:7565,.:6486 . . . . . 1/1:-1467.1,-168.707,0,.,.,.:650:12:631,.:17063,.:296 0/1:-352.603,0,-336.735,.,.,.:425:200:204,.:5418,.:5242 . 0/1:-469.98,0,-459.251,.,.,.:567:266:275,.:7229,.:7066 0/1:-313.046,0,-394.927,.,.,.:431:213:194,.:4935,.:5880 . . . . . 0/1:-375.523,0,-501.947,.,.,.:539:289:228,.:6053,.:7504 . 0/1:-448.188,0,-448.984,.,.,.:556:260:266,.:7038,.:6882 0/1:-647.489,0,-606.055,.,.,.:762:358:372,.:9923,.:9437 . . 0/1:-541.083,0,-462.617,.,.,.:606:273:304,.:8232,.:7300 0/1:-387.604,0,-312.199,.,.,.:426:183:220,.:5891,.:4945 0/1:-457.178,0,-447.878,.,.,.:559:265:272,.:7065,.:6959 0/1:-479.07,0,-511.495,.,.,.:581:287:273,.:7382,.:7726 0/1:-678.407,0,-511.827,.,.,.:706:302:374,.:10123,.:8137 1/1:-1082.31,-133.632,0,.,.,.:476:4:468,.:12557,.:94 0/1:-428.127,0,-395.443,.,.,.:488:232:242,.:6551,.:6097 . . . . . . 0/1:-469.368,0,-458.937,.,.,.:551:262:263,.:7205,.:7033 0/1:-391.99,0,-375.233,.,.,.:486:227:227,.:6019,.:5832 0/1:-438.34,0,-353.78,.,.,.:465:205:243,.:6521,.:5579 0/1:-505.142,0,-429.449,.,.,.:576:260:288,.:7608,.:6804 . . 1/1:-892.912,-107.526,0,.,.,.:414:6:401,.:10386,.:168 0/1:-268.022,0,-315.467,.,.,.:361:179:161,.:4266,.:4733 . 0/1:-347.087,0,-330.706,.,.,.:397:189:188,.:5233,.:5062 . . 1/1:-1155.82,-131.841,0,.,.,.:498:8:486,.:13379,.:216 . . . 0/1:-487.831,0,-421.232,.,.,.:554:253:279,.:7455,.:6606 0/1:-473.905,0,-362.378,.,.,.:497:223:259,.:7024,.:5768 0/1:-528.982,0,-500.656,.,.,.:616:292:299,.:8004,.:7716 . 0/1:-192.009,0,-342.364,.,.,.:372:196:149,.:3416,.:5082 0/1:-636.227,0,-367.428,.,.,.:600:229:348,.:9267,.:6203 . 0/1:-525.851,0,-433.399,.,.,.:581:257:303,.:7926,.:6894 0/1:-506.896,0,-490.333,.,.,.:595:284:287,.:7852,.:7500 0/1:-306.385,0,-353.545,.,.,.:395:188:190,.:4871,.:5328 0/1:-434.606,0,-292.262,.,.,.:445:180:250,.:6450,.:4816 . 1/1:-1197.71,-143.244,0,.,.,.:541:9:528,.:14000,.:206 . . . . 0/1:-459.409,0,-323.497,.,.,.:482:199:263,.:6881,.:5330 . 0/1:-269.094,0,-311.402,.,.,.:372:191:167,.:4255,.:4806 0/1:-645.904,0,-462.217,.,.,.:671:279:367,.:9649,.:7448 0/1:-640.647,0,-592.163,.,.,.:749:346:381,.:9821,.:9244 0/1:-324.713,0,-378.546,.,.,.:427:219:193,.:5121,.:5705 0/1:-499.72,0,-585.077,.,.,.:651:321:298,.:7831,.:8772 0/1:-416.751,0,-417.246,.,.,.:517:245:252,.:6461,.:6418 1/1:-1297.96,-150.929,0,.,.,.:588:9:573,.:15185,.:274 . 0/1:-271.047,0,-176.465,.,.,.:227:95:128,.:3856,.:2783:95,128 0/1:-278.746,0,-295.69,.,.,.:292:148:138,.:4192,.:4363:148,138 0/1:-323.701,0,-370.819,.,.,.:352:185:159,.:4847,.:5392:185,159 . 0/1:-255.65,0,-233.559,.,.,.:247:114:126,.:3736,.:3474:114,126 0/1:-326.949,0,-397.339,.,.,.:371:200:164,.:5052,.:5837:200,164 0/1:-340.352,0,-269.566,.,.,.:310:141:161,.:4896,.:4093:141,161 . . 0/1:-230.216,0,-196.473,.,.,.:228:106:115,.:3442,.:3042:106,115 . 0/1:-248.102,0,-243.343,.,.,.:247:120:122,.:3688,.:3616:120,122 0/1:-258.17,0,-299.727,.,.,.:276:145:125,.:3874,.:4437:145,125 . . . . 1/1:-804.95,-85.1849,0,.,.,.:304:2:302,.:9254,.:68:2,302 . 0/0:0,.,.,-53.2914,.,-593.902:257:241:.,13:.,274:7029:241,13 chr6 76596731 . A C 3720.91 . AB=0.4875;ABP=3.55317;AC=2;AF=0.5;AN=4;AO=195;CIGAR=1X;DP=853;DPB=400;DPRA=0;EPP=65.6489;EPPR=61.8766;GTI=0;LEN=1;MEANALT=2;MQM=40.7385;MQMR=40.4059;NS=1;NUMALT=1;ODDS=846.327;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5741;QR=6104;RO=202;RPL=97;RPP=3.02144;RPPR=9.20222;RPR=98;RUN=1;SAF=71;SAP=34.2906;SAR=124;SF=0;SRF=53;SRP=102.081;SRR=149;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;1000g2015aug_all=0.0389377;avsnp147=rs2295937;Kaviar_AF=0.0218691;Kaviar_AC=3381;Kaviar_AN=154602;ExAC_ALL=0.0248;ExAC_AFR=0.0005;ExAC_AMR=0.0376;ExAC_EAS=0.1559;ExAC_FIN=0.0698;ExAC_NFE=0.0056;ExAC_OTH=0.0422;ExAC_SAS=0.0207;CLNALLELEID=54315;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0347;dpsi_zscore=-0.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0256;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0329;gnomAD_exome_ASJ=0.0074;gnomAD_exome_EAS=0.1536;gnomAD_exome_FIN=0.0648;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0203;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0190;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0287;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.1450;gnomAD_genome_FIN=0.0619;gnomAD_genome_NFE=0.0059;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-384.256,0,-406.467:400:202:195:5741:6104 . . . . . . 0/1:-397.886,0,-464.419:453:228:224:6197:6895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76602282 . G A 7367.67 . AB=0.454968;ABP=21.9809;AC=1;AF=0.5;AN=2;AO=490;CIGAR=1X;DP=1077;DPB=1077;DPRA=0;EPP=40.5192;EPPR=101.713;GTI=0;LEN=1;MEANALT=3;MQM=35.1082;MQMR=35.8544;NS=1;NUMALT=1;ODDS=1696.47;PAIRED=0.926531;PAIREDR=0.897087;PAO=0;PQA=0;PQR=0;PRO=0;QA=12913;QR=14572;RO=515;RPL=236;RPP=4.44613;RPPR=13.134;RPR=254;RUN=1;SAF=235;SAP=4.78293;SAR=255;SF=0;SRF=236;SRP=10.8065;SRR=279;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon28:c.G2982A:p.E994E,MYO6:NM_004999:exon28:c.G2982A:p.E994E;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0084;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0084;1000g2015aug_all=0.00359425;avsnp147=rs55905349;Kaviar_AF=0.005401;Kaviar_AC=835;Kaviar_AN=154602;ExAC_ALL=0.0052;ExAC_AFR=0.0015;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0068;ExAC_NFE=0.0074;ExAC_OTH=0.0099;ExAC_SAS=0.0016;CLNALLELEID=54318;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7177;dpsi_zscore=1.870;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0052;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0048;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0056;gnomAD_exome_NFE=0.0081;gnomAD_exome_OTH=0.0047;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0046;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0054;gnomAD_genome_NFE=0.0072;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-748.917,0,-867.453:1077:515:490:12913:14572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76608105 . A G 5572.06 . AB=0.468019;ABP=8.70491;AC=1;AF=0.5;AN=2;AO=300;CIGAR=1X;DP=641;DPB=641;DPRA=0;EPP=21.1059;EPPR=25.0128;GTI=0;LEN=1;MEANALT=3;MQM=40.1267;MQMR=40.1205;NS=1;NUMALT=1;ODDS=1283.01;PAIRED=0.993333;PAIREDR=0.972892;PAO=0;PQA=0;PQR=0;PRO=0;QA=8721;QR=10262;RO=332;RPL=163;RPP=7.90335;RPPR=4.68469;RPR=137;RUN=1;SAF=142;SAP=4.86329;SAR=158;SF=0;SRF=147;SRP=12.4549;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_004999:exon30:c.A3153G:p.K1051K;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0580;dpsi_zscore=1.555;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-567.552,0,-692.253:641:332:300:8721:10262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76608128 . G C 6466.92 . AB=0.457103;ABP=14.3746;AC=1;AF=0.5;AN=2;AO=325;CIGAR=1X;DP=711;DPB=711;DPRA=0;EPP=23.2217;EPPR=52.4171;GTI=0;LEN=1;MEANALT=3;MQM=40.56;MQMR=40.836;NS=1;NUMALT=1;ODDS=1489.06;PAIRED=0.966154;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10017;QR=11753;RO=372;RPL=173;RPP=5.95682;RPPR=9.75821;RPR=152;RUN=1;SAF=129;SAP=33.0033;SAR=196;SF=0;SRF=157;SRP=22.6469;SRR=215;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_004999:exon30:c.G3176C:p.R1059T;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs202214380;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=54320;CLNDN=Infertility|Male_infertility|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0000789,MedGen:C0021359|Human_Phenotype_Ontology:HP:0003251,MedGen:C0021364,Orphanet:ORPHA98048,SNOMED_CT:2904007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=0.188;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.159;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=1.53;FATHMM_pred=T;PROVEAN_score=-0.82;PROVEAN_pred=N;VEST3_score=0.741;CADD_raw=2.861;CADD_phred=21.7;DANN_score=0.976;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.144;MetaSVM_pred=T;MetaLR_score=0.496;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.086;GDI_full_10282015=.;dpsi_max_tissue=-1.4790;dpsi_zscore=-1.707;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.484e-05;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-660.292,0,-809.909:711:372:325:10017:11753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76617311 . A G 2581.83 . AB=0.426273;ABP=20.6208;AC=1;AF=0.5;AN=2;AO=159;CIGAR=1X;DP=373;DPB=373;DPRA=0;EPP=3.02396;EPPR=19.7139;GTI=0;LEN=1;MEANALT=3;MQM=38.7107;MQMR=39.274;NS=1;NUMALT=1;ODDS=594.488;PAIRED=0.981132;PAIREDR=0.923077;PAO=0;PQA=0;PQR=0;PRO=0;QA=4421;QR=6212;RO=208;RPL=59;RPP=25.9678;RPPR=15.0787;RPR=100;RUN=1;SAF=79;SAP=3.02396;SAR=80;SF=0;SRF=93;SRP=8.06315;SRR=115;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775759297;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=2.505e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.561e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0452;dpsi_zscore=0.276;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.035e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.481e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-268.415,0,-419.275:373:208:159:4421:6212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 76624538 . G A 5698.93 . AB=0.468647;ABP=8.18457;AC=10;AF=0.5;AN=20;AO=284;CIGAR=1X;DP=6426;DPB=606;DPRA=0;EPP=44.88;EPPR=23.8633;GTI=0;LEN=1;MEANALT=3;MQM=39.1338;MQMR=38.9333;NS=1;NUMALT=1;ODDS=1176.28;PAIRED=0.989437;PAIREDR=0.95873;PAO=0;PQA=0;PQR=0;PRO=0;QA=8610;QR=9806;RO=315;RPL=58;RPP=218.812;RPPR=164.382;RPR=226;RUN=1;SAF=189;SAP=70.5706;SAR=95;SF=0,1;SRF=198;SRP=48.239;SRR=117;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon33:c.G3598A:p.D1200N,MYO6:NM_004999:exon35:c.G3667A:p.D1223N;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00559105;avsnp147=rs41269323;Kaviar_AF=0.0094953;Kaviar_AC=1468;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.0011;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0.0126;ExAC_NFE=0.0140;ExAC_OTH=0.0121;ExAC_SAS=0.0071;CLNALLELEID=54326;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.052;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.195;MutationAssessor_pred=M;FATHMM_score=-2.82;FATHMM_pred=D;PROVEAN_score=-4.45;PROVEAN_pred=D;VEST3_score=0.06;CADD_raw=7.271;CADD_phred=34;DANN_score=0.998;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=0.838;MetaSVM_pred=D;MetaLR_score=0.863;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.947;SiPhy_29way_logOdds=20.644;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0444;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0122;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0135;gnomAD_exome_SAS=0.0075;gnomAD_genome_ALL=0.0069;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0106;gnomAD_genome_NFE=0.0090;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-552.706,0,-643.539:606:315:284:8610:9806 0/1:-385.031,0,-435.931:431:217:204:6153:6725 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-781.956,0,-762.373:790:381:392:12134:11691 . 0/1:-495.02,0,-440.582:473:220:242:7492:6942 . . . . . . . . . 0/1:-354.345,0,-414.779:396:206:182:5514:6453 . . . . . . . . . 0/1:-765.806,0,-788.108:778:387:379:11837:12056 . . . . . . . . . . . . . . . . . . 0/1:-571.71,0,-627.709:610:299:295:8889:9566 . . . . . 0/1:-598.939,0,-593.125:600:288:299:9385:9175 . . . . . . . . . . . . . . . 0/1:-781.534,0,-1041.97:943:511:417:12567:15637 . . . . . . . . . . . . . . . . . . . . 0/1:-681.807,0,-972.037:799:451:336:10579:14133:451,336 . . . . chr6 76624741 . C T 8386.12 . AB=0.40188;ABP=74.1739;AC=72;AF=0.5;AN=126;AO=342;CIGAR=1X;DP=48490;DPB=851;DPRA=0;EPP=29.0172;EPPR=10.702;GTI=0;LEN=1;MEANALT=3;MQM=36.655;MQMR=39.2249;NS=1;NUMALT=1;ODDS=1228.83;PAIRED=0.947368;PAIREDR=0.919679;PAO=0;PQA=0;PQR=0;PRO=0;QA=10360;QR=15526;RO=498;RPL=284;RPP=327.309;RPPR=483.63;RPR=58;RUN=1;SAF=115;SAP=82.6564;SAR=227;SF=0,1;SRF=181;SRP=83.66;SRR=317;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=MYO6;GeneDetail.refGene=NM_001300899:c.*12C>T,NM_004999:c.*12C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.2410;esp6500siv2_ea=0.3343;esp6500siv2_all=0.2410;esp6500siv2_ea=0.3343;1000g2015aug_all=0.146965;avsnp147=rs12606;Kaviar_AF=0.249841;Kaviar_AC=38626;Kaviar_AN=154602;ExAC_ALL=0.2878;ExAC_AFR=0.0662;ExAC_AMR=0.1849;ExAC_EAS=0.0664;ExAC_FIN=0.2889;ExAC_NFE=0.3592;ExAC_OTH=0.2976;ExAC_SAS=0.2858;CLNALLELEID=54297;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2514;gnomAD_exome_AFR=0.0508;gnomAD_exome_AMR=0.1430;gnomAD_exome_ASJ=0.3074;gnomAD_exome_EAS=0.0508;gnomAD_exome_FIN=0.2481;gnomAD_exome_NFE=0.3327;gnomAD_exome_OTH=0.2799;gnomAD_exome_SAS=0.2688;gnomAD_genome_ALL=0.2185;gnomAD_genome_AFR=0.0580;gnomAD_genome_AMR=0.1835;gnomAD_genome_ASJ=0.3013;gnomAD_genome_EAS=0.0610;gnomAD_genome_FIN=0.2360;gnomAD_genome_NFE=0.3216;gnomAD_genome_OTH=0.2777;Whole_Blood=Whole_Blood::0.289973::-0.238489;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-593.558,0,-1053.89:851:498:342:10360:15526 0/1:-631.23,0,-649.769:667:330:327:10214:10003 0/1:-408.191,0,-454.452:443:231:206:6388:6903 1/1:-1769.89,-199.224,0:733:7:717:21759:224 . 0/1:-578.203,0,-705.074:665:349:309:9498:10782 1/1:-2202.79,-234.135,0:901:14:879:26968:421 0/1:-586.951,0,-733.744:680:361:306:9379:11065 0/1:-765.719,0,-796.083:814:406:395:12325:12495 . . 0/1:-662.176,0,-774.541:739:384:348:10606:11783 0/1:-634.188,0,-608.591:687:323:347:10284:9878 . . 0/1:-407.75,0,-554.21:527:286:222:6806:8619 0/1:-1515.53,0,-1488.36:1540:747:758:23316:22808 0/1:-771.955,0,-610.043:745:329:402:12063:9831 . . . . . 1/1:-2153.74,-237.597,0:893:13:863:26059:323 0/1:-480.825,0,-638.514:613:327:270:8271:9948 . 0/1:-958.377,0,-839.971:927:433:473:14757:13117 0/1:-471.184,0,-597.476:603:308:284:8235:9401 . . . . . 0/1:-700.684,0,-709.875:744:355:378:11212:10994 . 0/1:-870.37,0,-627.89:767:332:426:12945:10191 0/1:-655.427,0,-769.474:745:386:346:10494:11809 . . 0/1:-843.958,0,-858.771:875:439:423:13034:13197 0/1:-646.348,0,-695.653:690:342:335:10189:10594 0/1:-701.827,0,-676.367:688:333:344:10754:10270 0/1:-659.98,0,-768.832:748:385:347:10592:11664 0/1:-842.213,0,-858.211:897:446:434:13301:13433 1/1:-1960.16,-222.227,0:799:7:784:23685:226 0/1:-726.007,0,-754.153:770:379:371:11383:11582 . . . . . . 0/1:-986.494,0,-855.912:923:433:477:14870:13526 0/1:-528.59,0,-615.461:613:308:291:8728:9512 0/1:-497.562,0,-598.296:586:310:261:7978:9300 0/1:-671.509,0,-814.829:764:402:345:10658:12201 . . 1/1:-1856.02,-195.753,0:749:12:728:22356:335 0/1:-481.184,0,-483.892:537:254:257:7764:7697 . 0/1:-681.262,0,-844.053:792:415:365:10840:12854 . . 1/1:-1999.7,-213.542,0:804:9:786:24159:292 . . . 0/1:-661.911,0,-867.985:787:420:355:10758:12796 0/1:-572.935,0,-793.259:710:393:306:9249:12085 0/1:-1087.45,0,-980.617:1087:504:560:16778:15330 . 0/1:-331.673,0,-444.77:467:243:212:5970:7101 0/1:-593.527,0,-643.841:642:319:306:9309:9826 . 0/1:-866.949,0,-805.159:875:413:446:13321:12733 0/1:-722.259,0,-917.039:858:452:388:11817:13847 0/1:-534.683,0,-684.302:639:342:281:8610:10344 0/1:-438.276,0,-546.881:519:268:233:6978:8325 . 1/1:-2127.28,-248.057,0:894:7:873:26205:191 . . . . 0/1:-518.725,0,-411.56:491:213:263:7911:6637 . 0/1:-372.193,0,-463.735:440:231:201:5955:7080 0/1:-711.654,0,-706.421:736:359:358:11013:10917 0/1:-868.198,0,-1109.2:1016:545:458:14069:16606 0/1:-620.326,0,-678.608:688:339:334:9838:10425 0/1:-720.875,0,-895.193:836:440:384:11443:13463 0/1:-697.065,0,-816.677:795:411:368:11107:12607 1/1:-2095.26,-219.502,0:870:16:842:25500:475 . 0/1:-1058,0,-943.65:981:457:511:15833:14226:457,511 0/1:-923.398,0,-995.994:924:470:441:13915:14615:470,441 0/1:-988.628,0,-1115.34:1000:523:467:14742:16248:523,467 . 0/1:-728.639,0,-875.269:775:404:362:11023:12757:404,362 0/1:-993.978,0,-866.586:921:429:478:14870:13140:429,478 0/1:-859.921,0,-894.014:852:421:422:13053:13227:421,422 . . 0/1:-919.262,0,-847.548:838:397:430:13465:12620:397,430 . 0/1:-708.845,0,-748.466:708:355:339:10728:11018:355,339 0/1:-757.816,0,-921.733:814:425:374:11618:13359:425,374 . . . . 1/1:-2077.3,-208.495,0:808:12:795:24609:394:12,795 . . chr6 112435264 . T G 7785.71 . AB=0.495575;ABP=3.14482;AC=60;AF=0.5;AN=104;AO=392;CIGAR=1X;DP=37448;DPB=791;DPRA=0;EPP=198.797;EPPR=213.102;GTI=0;LEN=1;MEANALT=3;MQM=37.7194;MQMR=39.0026;NS=1;NUMALT=1;ODDS=1518.06;PAIRED=0.971939;PAIREDR=0.98961;PAO=0;PQA=0;PQR=0;PRO=0;QA=10979;QR=11546;RO=385;RPL=170;RPP=17.989;RPPR=7.122;RPR=222;RUN=1;SAF=190;SAP=3.80798;SAR=202;SF=0,1;SRF=187;SRP=3.69276;SRR=198;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.2572;esp6500siv2_ea=0.2706;esp6500siv2_all=0.2572;esp6500siv2_ea=0.2706;1000g2015aug_all=0.240016;avsnp147=rs3734290;Kaviar_AF=0.241316;Kaviar_AC=37308;Kaviar_AN=154602;ExAC_ALL=0.2393;ExAC_AFR=0.2386;ExAC_AMR=0.1772;ExAC_EAS=0.3213;ExAC_FIN=0.2048;ExAC_NFE=0.2679;ExAC_OTH=0.2119;ExAC_SAS=0.1401;CLNALLELEID=53572;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0278;dpsi_zscore=0.184;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2376;gnomAD_exome_AFR=0.2400;gnomAD_exome_AMR=0.1795;gnomAD_exome_ASJ=0.2953;gnomAD_exome_EAS=0.3319;gnomAD_exome_FIN=0.2107;gnomAD_exome_NFE=0.2662;gnomAD_exome_OTH=0.2478;gnomAD_exome_SAS=0.1429;gnomAD_genome_ALL=0.2490;gnomAD_genome_AFR=0.2365;gnomAD_genome_AMR=0.1909;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.3325;gnomAD_genome_FIN=0.2086;gnomAD_genome_NFE=0.2602;gnomAD_genome_OTH=0.2305;Whole_Blood=.;Liver=Liver::0.27451::0.398307;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-688.956,0,-747.032:791:385:392:10979:11546 1/1:-1757.94,-188.197,0:782:27:745:21219:529 0/1:-489.896,0,-438.999:526:233:283:7751:6955 . . 0/1:-574.31,0,-530.153:612:283:321:9045:8216 0/1:-674.67,0,-699.121:737:358:369:10536:10796 . . 1/1:-1489.7,-157.241,0:681:23:649:18264:529 . . . . 0/1:-1083.69,0,-918.179:1062:479:572:16260:14451 . . . 0/1:-476.362,0,-518.867:560:275:278:7772:8220 . 0/1:-782.746,0,-797.86:849:405:432:12033:12224 0/1:-346.278,0,-514.165:480:256:215:6007:7720 1/1:-1972.26,-215.021,0:894:33:845:23685:619 0/1:-602.32,0,-749.309:717:371:339:9660:11275 0/1:-488.959,0,-543.713:586:289:285:7930:8363 . . . . 0/1:-578.269,0,-568.338:612:285:318:8969:8669 0/1:-821.969,0,-940.797:963:473:473:13012:14461 . . 0/1:-683.961,0,-740.858:794:394:393:10947:11547 0/1:-776.876,0,-857.894:873:439:422:12080:13055 . 0/1:-720.291,0,-845.241:833:424:400:11507:12873 . . . 0/1:-518.151,0,-486.793:558:253:299:8178:7644 1/1:-1623.56,-171.98,0:750:27:710:19691:586 . . . . 0/1:-311.911,0,-311.586:354:167:181:5026:4939 1/1:-1518.49,-163.57,0:668:21:639:18311:418 0/1:-793.204,0,-750.773:842:397:435:12248:11746 . 0/1:-563.911,0,-809.116:776:423:337:9390:12296 0/1:-893.564,0,-730.971:891:388:489:13662:11719 . . 0/1:-450.711,0,-528.199:540:278:253:7192:8118 0/1:-617.617,0,-864.008:784:431:346:9890:12948 0/1:-391.319,0,-398.191:446:210:228:6170:6152 . . 0/1:-489.437,0,-450.558:544:247:288:7804:7267 0/1:-756.93,0,-946.191:919:470:438:12127:14239 . . 0/1:-812.644,0,-895.087:916:458:441:12607:13663 . 0/1:-318.623,0,-441.761:435:226:202:5440:6675 1/1:-1878.5,-203.785,0:817:24:782:22616:452 0/1:-508.778,0,-424.603:513:226:279:7726:6691 . . . . . 0/1:-558.678,0,-745.298:694:364:320:9059:11122 . . . . 0/1:-432.875,0,-488.032:514:254:253:6961:7522 1/1:-1749.44,-191.044,0:778:22:741:21233:474 . . 0/1:-564.05,0,-663.085:665:335:320:8911:10161 0/1:-522.026,0,-616.642:628:310:304:8421:9521 . 0/1:-467.706,0,-655.686:595:311:273:7512:9602 0/1:-773.438,0,-730.66:827:390:426:12004:11553 . . 0/1:-853.347,0,-1132.76:1068:561:490:13756:16776 1/1:-1394.91,-162.829,0:602:14:582:16730:231 0/1:-782.046,0,-951.631:935:479:444:12499:14345 . 0/1:-814.792,0,-694.054:846:375:459:12634:11001 . . . . . 0/1:-714.39,0,-828.527:740:381:358:11014:12106:381,358 . 0/1:-818.915,0,-717.171:734:346:384:12099:10851:346,384 0/1:-758.67,0,-980.633:826:450:374:11715:14194:450,374 0/1:-823.726,0,-769.126:753:359:389:12112:11542:359,389 . . . . . . 0/1:-785.47,0,-796.623:769:380:387:11845:11898:380,387 . 0/1:-740.906,0,-721.889:691:339:351:11010:10737:339,351 . 0/1:-820.972,0,-584.288:678:289:384:11975:9055:289,384 chr6 112435273 . A C 8756.44 . AB=0.507012;ABP=3.40618;AC=60;AF=0.5;AN=104;AO=470;CIGAR=1X;DP=43854;DPB=927;DPRA=0;EPP=142.89;EPPR=177.211;GTI=0;LEN=1;MEANALT=3;MQM=37.9532;MQMR=39.1956;NS=1;NUMALT=1;ODDS=1824.27;PAIRED=0.978723;PAIREDR=0.973333;PAO=0;PQA=0;PQR=0;PRO=0;QA=12843;QR=12871;RO=450;RPL=212;RPP=12.7865;RPPR=16.0584;RPR=258;RUN=1;SAF=222;SAP=6.13352;SAR=248;SF=0,1;SRF=213;SRP=5.78978;SRR=237;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.2581;esp6500siv2_ea=0.2716;esp6500siv2_all=0.2581;esp6500siv2_ea=0.2716;1000g2015aug_all=0.240016;avsnp147=rs3734289;Kaviar_AF=0.241323;Kaviar_AC=37309;Kaviar_AN=154602;ExAC_ALL=0.2392;ExAC_AFR=0.2381;ExAC_AMR=0.1773;ExAC_EAS=0.3212;ExAC_FIN=0.2048;ExAC_NFE=0.2678;ExAC_OTH=0.2115;ExAC_SAS=0.1401;CLNALLELEID=53573;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8755;dpsi_zscore=-1.395;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2377;gnomAD_exome_AFR=0.2400;gnomAD_exome_AMR=0.1797;gnomAD_exome_ASJ=0.2953;gnomAD_exome_EAS=0.3322;gnomAD_exome_FIN=0.2108;gnomAD_exome_NFE=0.2663;gnomAD_exome_OTH=0.2478;gnomAD_exome_SAS=0.1428;gnomAD_genome_ALL=0.2491;gnomAD_genome_AFR=0.2363;gnomAD_genome_AMR=0.1909;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.3323;gnomAD_genome_FIN=0.2088;gnomAD_genome_NFE=0.2608;gnomAD_genome_OTH=0.2285;Whole_Blood=.;Liver=Liver::0.27451::0.398307;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-817.222,0,-819.74:927:450:470:12843:12871 1/1:-1955.07,-204.814,0:897:42:849:23700:844 0/1:-553.713,0,-502:604:274:323:8737:7974 . . 0/1:-626.624,0,-611.933:710:336:368:9828:9649 0/1:-704.251,0,-754.174:825:395:416:11170:11734 . . 1/1:-1651.77,-160.608,0:798:40:749:20408:950 . . . . 0/1:-1174.73,0,-1083.04:1222:577:630:17831:16844 . . . 0/1:-524.988,0,-576.015:658:319:329:8645:9139 . 0/1:-880.8,0,-921.547:998:474:510:13659:14136 0/1:-414.258,0,-584.011:568:296:267:7106:8857 1/1:-2129.61,-210.892,0:1045:63:979:26076:1261 0/1:-655.454,0,-800.044:814:412:392:10580:12158 0/1:-567.224,0,-597.461:676:331:331:9136:9264 . . . . 0/1:-659.355,0,-663.96:729:348:373:10306:10209 0/1:-894.772,0,-1063.65:1121:565:540:14384:16391 . . 0/1:-731.845,0,-844.974:909:450:449:11979:13169 0/1:-855.514,0,-971.393:1005:502:494:13498:14819 . 0/1:-792.635,0,-955.538:988:505:476:12859:14536 . . . 0/1:-592.215,0,-559.537:670:304:357:9472:8888 1/1:-1799.45,-175.705,0:866:46:807:21915:1009 . . . . 0/1:-374.985,0,-345.429:417:194:221:5971:5613 1/1:-1678.9,-177.457,0:769:31:725:20160:591 0/1:-868.022,0,-869.933:978:466:503:13630:13497 . 0/1:-625.884,0,-901.588:886:486:392:10558:13849 0/1:-1004.68,0,-849.151:1046:462:569:15470:13523 . . 0/1:-523.962,0,-669.756:659:343:307:8462:10184 0/1:-698.526,0,-949.544:908:482:417:11226:14328 0/1:-407.165,0,-457.97:510:256:247:6608:7042 . . 0/1:-511.973,0,-569.791:636:315:313:8364:8915 0/1:-857.433,0,-1010.42:1036:528:503:13692:15345 . . 0/1:-906.247,0,-946.336:1030:497:519:14014:14607 . 0/1:-383.775,0,-527.794:529:274:248:6456:8067 1/1:-2026.31,-208.846,0:955:49:894:24736:897 0/1:-545.81,0,-517.509:593:273:310:8418:8104 . . . . . 0/1:-654.705,0,-878.088:830:438:386:10625:13118 . . . . 0/1:-486.315,0,-573.62:624:306:311:7991:8906 1/1:-1960.2,-212.222,0:921:35:876:23843:716 . . 0/1:-667.923,0,-790.853:827:421:392:10663:12170 0/1:-645.639,0,-651.227:762:360:389:10300:10327 . 0/1:-545.177,0,-723.579:707:372:328:8827:10882 0/1:-882.328,0,-847.834:972:455:510:13884:13627 . . 0/1:-965.507,0,-1374.54:1292:702:580:15810:20548 1/1:-1493.57,-163.275,0:700:32:659:18228:542 0/1:-834.424,0,-1109.88:1093:577:500:13607:16758 . 0/1:-928.728,0,-802.183:987:437:533:14371:12757 . . . . . 0/1:-837.372,0,-911.365:885:442:439:12848:13567:442,439 . 0/1:-986.816,0,-822.152:892:410:477:14546:12606:410,477 0/1:-842.578,0,-1119.97:957:526:425:13032:16153:526,425 0/1:-978.961,0,-922.346:915:442:467:14407:13785:442,467 . . . . . . 0/1:-833.445,0,-925.092:883:451:431:12820:13794:451,431 . 0/1:-879.53,0,-850.707:843:413:428:13058:12666:413,428 . 0/1:-920.879,0,-642.549:782:328:450:13443:10078:328,450 chr6 112435335 . G A 6734.67 . AB=0.508796;ABP=3.50689;AC=1;AF=0.5;AN=2;AO=376;CIGAR=1X;DP=739;DPB=739;DPRA=0;EPP=7.53805;EPPR=4.2695;GTI=0;LEN=1;MEANALT=3;MQM=36.2207;MQMR=38.997;NS=1;NUMALT=1;ODDS=1425.76;PAIRED=0.93883;PAIREDR=0.931953;PAO=0;PQA=0;PQR=0;PRO=0;QA=10944;QR=9973;RO=338;RPL=177;RPP=5.80549;RPPR=36.3148;RPR=199;RUN=1;SAF=153;SAP=31.3087;SAR=223;SF=0;SRF=145;SRP=17.8123;SRR=193;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon38:c.C5270T:p.P1757L,LAMA4:NM_001105207:exon38:c.C5249T:p.P1750L,LAMA4:NM_002290:exon38:c.C5249T:p.P1750L;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000599042;avsnp147=rs200177134;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=8.696e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0023;CLNALLELEID=53571;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=-1.39;FATHMM_pred=T;PROVEAN_score=-6.03;PROVEAN_pred=D;VEST3_score=0.833;CADD_raw=7.024;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_pred=D;MetaSVM_score=0.157;MetaSVM_pred=D;MetaLR_score=0.591;MetaLR_pred=D;integrated_fitCons_score=0.632;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=20.324;GDI_full_10282015=.;dpsi_max_tissue=-0.0700;dpsi_zscore=-0.348;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-685.158,0,-632.205:739:338:376:10944:9973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112435912 . A T 6292.77 . AB=0.520104;ABP=5.7169;AC=62;AF=0.5;AN=106;AO=401;CIGAR=1X;DP=30452;DPB=771;DPRA=0;EPP=24.503;EPPR=31.6986;GTI=0;LEN=1;MEANALT=3;MQM=37.9327;MQMR=38.8629;NS=1;NUMALT=1;ODDS=1498.95;PAIRED=0.972569;PAIREDR=0.917143;PAO=0;PQA=0;PQR=0;PRO=0;QA=11120;QR=10560;RO=350;RPL=277;RPP=129.773;RPPR=80.8359;RPR=124;RUN=1;SAF=194;SAP=3.92546;SAR=207;SF=0,1;SRF=180;SRP=3.63072;SRR=170;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon37:c.T5160A:p.V1720V,LAMA4:NM_001105207:exon37:c.T5139A:p.V1713V,LAMA4:NM_002290:exon37:c.T5139A:p.V1713V;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.3049;esp6500siv2_ea=0.2894;esp6500siv2_all=0.3049;esp6500siv2_ea=0.2894;1000g2015aug_all=0.281749;avsnp147=rs1050353;Kaviar_AF=0.268043;Kaviar_AC=41440;Kaviar_AN=154602;ExAC_ALL=0.2671;ExAC_AFR=0.3355;ExAC_AMR=0.1910;ExAC_EAS=0.3343;ExAC_FIN=0.2310;ExAC_NFE=0.2904;ExAC_OTH=0.2379;ExAC_SAS=0.1641;CLNALLELEID=53568;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0817;dpsi_zscore=-0.390;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2632;gnomAD_exome_AFR=0.3383;gnomAD_exome_AMR=0.1944;gnomAD_exome_ASJ=0.3326;gnomAD_exome_EAS=0.3429;gnomAD_exome_FIN=0.2364;gnomAD_exome_NFE=0.2864;gnomAD_exome_OTH=0.2731;gnomAD_exome_SAS=0.1677;gnomAD_genome_ALL=0.2941;gnomAD_genome_AFR=0.3382;gnomAD_genome_AMR=0.2189;gnomAD_genome_ASJ=0.3245;gnomAD_genome_EAS=0.3498;gnomAD_genome_FIN=0.2246;gnomAD_genome_NFE=0.2846;gnomAD_genome_OTH=0.2587;Whole_Blood=.;Liver=Liver::0.284314::0.392248;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-702.571,0,-670.224:771:350:401:11120:10560 1/1:-1168.81,-130.401,0:535:14:504:14241:360 0/1:-312.764,0,-306.071:364:176:179:5086:5182 . . 0/1:-474.293,0,-556.9:568:288:274:7792:8551 0/1:-597.462,0,-633.66:664:327:327:9338:9812 . . 1/1:-1341.27,-138.759,0:603:17:568:16442:432 . . . . 0/1:-700.159,0,-748.381:816:393:412:11340:11820 . . . 0/1:-414.493,0,-488.278:512:260:240:6858:7763 . 0/1:-660.116,0,-605.715:687:314:353:10110:9362 0/1:-346.32,0,-264.329:363:158:195:5447:4445 1/1:-1610.73,-166.98,0:727:18:693:19742:534 0/1:-517.841,0,-567.534:622:307:300:8429:8878 0/1:-380.05,0,-335.565:424:187:227:6046:5454 . . . . 0/1:-461.5,0,-523.298:545:270:260:7363:8105 0/1:-725.755,0,-605.274:732:324:398:11147:9635 . . 0/1:-554.363,0,-647.019:649:325:314:8893:9980 0/1:-575.572,0,-703.187:708:365:330:9165:10795 . 0/1:-432.936,0,-657.173:569:320:244:7067:9639 . . . 0/1:-488.2,0,-385.794:493:219:266:7460:6252 1/1:-1215.28,-130.729,0:554:15:520:14836:379 . 0/1:-601.646,0,-668.961:718:348:355:9706:10430 . . 0/1:-236.32,0,-304.384:309:164:139:3937:4702 1/1:-1022.55,-113.592,0:455:10:439:12358:250 1/1:-1554.14,-155.653,0:685:21:653:18705:567 . 0/1:-517.582,0,-485.148:575:269:294:8248:7931 0/1:-683.259,0,-775.007:793:393:384:10840:11952 . . 0/1:-314.667,0,-381.561:386:196:182:5027:5801 0/1:-484.227,0,-607.517:614:310:285:7914:9254 0/1:-331.148,0,-272.274:347:157:187:5191:4464 . . 0/1:-279.381,0,-333.286:380:186:183:5045:5396 0/1:-682.91,0,-748.2:787:389:379:10790:11654 . . 0/1:-644.762,0,-655.458:718:343:361:10187:10155 . 0/1:-340.401,0,-221.301:332:127:199:5447:3748 1/1:-1216.18,-133.393,0:560:15:530:15097:361 0/1:-363.454,0,-349.616:413:189:212:5858:5566 . . . . . 0/1:-471.43,0,-486.887:528:257:262:7538:7835 . . . . 0/1:-387.027,0,-331.943:408:182:219:6211:5425 1/1:-1376.52,-144.77,0:639:21:598:16826:507 . . 0/1:-390.819,0,-575.541:529:291:230:6612:8732 0/1:-511.09,0,-489.632:554:260:280:7960:7773 . 0/1:-320.091,0,-454.066:419:230:183:5240:6854 0/1:-559.588,0,-545.292:613:286:317:8763:8626 . . 0/1:-766.729,0,-753.28:830:393:426:12019:11712 1/1:-1143.04,-134.925,0:518:9:500:13785:245 0/1:-598.577,0,-598.158:667:312:343:9446:9344 . 0/1:-600.585,0,-560.963:643:299:332:9382:8904 . . . . . 0/1:-557.367,0,-543.012:522:255:264:8346:8011:255,264 . 0/1:-581.478,0,-613.963:578:285:285:8780:9085:285,285 0/1:-650.223,0,-712.836:659:336:321:9891:10604:336,321 0/1:-588.068,0,-641.205:584:294:283:8874:9328:294,283 . . . . . . 0/1:-625.348,0,-727.657:644:329:309:9457:10630:329,309 . 0/1:-571.659,0,-549.167:543:264:271:8500:8294:264,271 . 0/1:-652.226,0,-580.834:596:276:316:9691:8748:276,316 chr6 112440464 . G A 4683.92 . AB=0.523277;ABP=5.53762;AC=1;AF=0.5;AN=2;AO=281;CIGAR=1X;DP=537;DPB=537;DPRA=0;EPP=91.4843;EPPR=106.169;GTI=0;LEN=1;MEANALT=3;MQM=37.1459;MQMR=39.3112;NS=1;NUMALT=1;ODDS=960.913;PAIRED=0.982206;PAIREDR=0.958506;PAO=0;PQA=0;PQR=0;PRO=0;QA=7901;QR=7108;RO=241;RPL=198;RPP=105.209;RPPR=74.3806;RPR=83;RUN=1;SAF=111;SAP=29.9103;SAR=170;SF=0;SRF=98;SRP=21.2561;SRR=143;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon34:c.C4716T:p.L1572L,LAMA4:NM_001105207:exon34:c.C4695T:p.L1565L,LAMA4:NM_002290:exon34:c.C4695T:p.L1565L;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0724;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0724;esp6500siv2_ea=0.0020;1000g2015aug_all=0.0666933;avsnp147=rs35679345;Kaviar_AF=0.0197734;Kaviar_AC=3057;Kaviar_AN=154602;ExAC_ALL=0.0206;ExAC_AFR=0.2202;ExAC_AMR=0.0090;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0110;ExAC_SAS=0.0002;CLNALLELEID=53563;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7139;dpsi_zscore=1.323;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0166;gnomAD_exome_AFR=0.2259;gnomAD_exome_AMR=0.0109;gnomAD_exome_ASJ=0.0080;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0638;gnomAD_genome_AFR=0.2222;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-498.71,0,-445.052:537:241:281:7901:7108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112441510 . T C 11513.50 . AB=0.419376;ABP=88.0954;AC=1;AF=0.5;AN=2;AO=632;CIGAR=1X;DP=1507;DPB=1507;DPRA=0;EPP=44.5844;EPPR=3.38255;GTI=0;LEN=1;MEANALT=3;MQM=39.9288;MQMR=39.9262;NS=1;NUMALT=1;ODDS=2651.08;PAIRED=0.960443;PAIREDR=0.969048;PAO=0;PQA=0;PQR=0;PRO=0;QA=19409;QR=26761;RO=840;RPL=219;RPP=132.323;RPPR=125.864;RPR=413;RUN=1;SAF=484;SAP=390.907;SAR=148;SF=0;SRF=599;SRP=334.325;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon33:c.A4641G:p.K1547K,LAMA4:NM_001105207:exon33:c.A4620G:p.K1540K,LAMA4:NM_002290:exon33:c.A4620G:p.K1540K;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs373386760;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.259e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0342;dpsi_zscore=0.221;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.07e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.976e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1224.01,0,-1844.99:1507:840:632:19409:26761 . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112441690 . G C 9631.59 . AB=0.494312;ABP=3.28201;AC=1;AF=0.5;AN=2;AO=478;CIGAR=1X;DP=967;DPB=967;DPRA=0;EPP=30.6489;EPPR=59.9956;GTI=0;LEN=1;MEANALT=3;MQM=40.6946;MQMR=40.5921;NS=1;NUMALT=1;ODDS=2185.77;PAIRED=0.970711;PAIREDR=0.972803;PAO=0;PQA=0;PQR=0;PRO=0;QA=15179;QR=15292;RO=478;RPL=354;RPP=243.326;RPPR=273.472;RPR=124;RUN=1;SAF=112;SAP=296.095;SAR=366;SF=1;SRF=86;SRP=428.383;SRR=392;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3686;dpsi_zscore=0.983;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1029.63,0,-1037.15:967:478:478:15179:15292:478,478 . . . . . . . . . . . . . . chr6 112457383 . G C 8985.72 . AB=0.489816;ABP=3.93913;AC=58;AF=0.5;AN=102;AO=505;CIGAR=1X;DP=41662;DPB=1031;DPRA=0;EPP=3.97779;EPPR=3.02747;GTI=0;LEN=1;MEANALT=3;MQM=38.7723;MQMR=40.1403;NS=1;NUMALT=1;ODDS=2157.46;PAIRED=0.970297;PAIREDR=0.958498;PAO=0;PQA=0;PQR=0;PRO=0;QA=14615;QR=15358;RO=506;RPL=244;RPP=4.25298;RPPR=16.4683;RPR=261;RUN=1;SAF=288;SAP=24.6863;SAR=217;SF=0,1;SRF=255;SRP=3.07896;SRR=251;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.C3356G:p.P1119R,LAMA4:NM_001105207:exon25:c.C3335G:p.P1112R,LAMA4:NM_002290:exon25:c.C3335G:p.P1112R;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.2221;esp6500siv2_ea=0.2603;esp6500siv2_all=0.2221;esp6500siv2_ea=0.2603;1000g2015aug_all=0.210463;avsnp147=rs1050349;Kaviar_AF=0.222753;Kaviar_AC=34438;Kaviar_AN=154602;ExAC_ALL=0.2249;ExAC_AFR=0.1431;ExAC_AMR=0.1689;ExAC_EAS=0.3447;ExAC_FIN=0.1708;ExAC_NFE=0.2560;ExAC_OTH=0.1954;ExAC_SAS=0.1510;CLNALLELEID=53544;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.227;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=-1.32;FATHMM_pred=T;PROVEAN_score=-3.37;PROVEAN_pred=D;VEST3_score=0.777;CADD_raw=4.097;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.080;MetaSVM_pred=T;MetaLR_score=0.567;MetaLR_pred=D;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.949;SiPhy_29way_logOdds=20.337;GDI_full_10282015=.;dpsi_max_tissue=1.2779;dpsi_zscore=1.674;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2246;gnomAD_exome_AFR=0.1428;gnomAD_exome_AMR=0.1702;gnomAD_exome_ASJ=0.2868;gnomAD_exome_EAS=0.3503;gnomAD_exome_FIN=0.1744;gnomAD_exome_NFE=0.2561;gnomAD_exome_OTH=0.2354;gnomAD_exome_SAS=0.1543;gnomAD_genome_ALL=0.2140;gnomAD_genome_AFR=0.1437;gnomAD_genome_AMR=0.1842;gnomAD_genome_ASJ=0.2881;gnomAD_genome_EAS=0.3476;gnomAD_genome_FIN=0.1688;gnomAD_genome_NFE=0.2516;gnomAD_genome_OTH=0.2108;Whole_Blood=.;Liver=Liver::0.243421::0.375332;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-947.315,0,-1019.36:1031:506:505:14615:15358 1/1:-2107.56,-227.042,0:865:12:845:25069:350 0/1:-541.543,0,-669.667:636:330:291:8551:10118 . . 0/1:-647.08,0,-859.235:781:418:349:10337:12721 0/1:-732.157,0,-950.95:890:476:401:11699:14394 . . 1/1:-1992.37,-199.142,0:851:21:821:24107:626 . . . . 0/1:-1047.54,0,-1106.47:1082:535:534:15936:16608 . . . 0/1:-622.448,0,-619.895:653:314:332:9681:9400 . 0/1:-967.262,0,-1100.35:1038:519:499:14926:16327 0/1:-506.958,0,-445.494:518:237:272:7964:7093 1/1:-2156.59,-225.928,0:890:14:861:25708:433 0/1:-817.847,0,-901.54:902:442:439:12866:13448 0/1:-549.373,0,-821.169:750:407:326:9212:12196 . . . . 0/1:-727.879,0,-819.919:802:404:386:11283:12218 0/1:-1194.57,0,-1047.57:1134:521:598:17849:16127 . . 0/1:-713.13,0,-1063.39:895:494:386:11359:15330 0/1:-881.461,0,-1024.09:1008:513:477:13842:15346 . 0/1:-884.246,0,-941.29:964:466:475:13698:14354 . . . 0/1:-625.226,0,-701.641:681:339:329:9649:10583 0/1:-766.744,0,-839.307:809:404:395:11803:12444 . . . . 0/1:-481.535,0,-513.589:507:249:253:7498:7804 1/1:-1574.29,-172.194,0:671:12:650:18968:334 0/1:-804.773,0,-1040.06:940:495:434:12784:15250 . 0/1:-733.397,0,-916.509:864:451:403:11642:13719 0/1:-1013.61,0,-1095.79:1066:527:522:15612:16428 . . 0/1:-672.6,0,-733.885:708:354:343:10338:10963 0/1:-754.498,0,-935.011:873:455:403:11868:13923 0/1:-543.676,0,-577.484:603:305:291:8500:8974 . . 0/1:-628.298,0,-491.481:598:260:327:9514:7843 0/1:-920.446,0,-951.259:974:469:486:14189:14412 . . 0/1:-884.739,0,-1102.51:1033:540:479:14154:16430 . 0/1:-490.051,0,-593.301:578:300:264:7907:8994 1/1:-2390.48,-270.737,0:998:13:971:28579:363 0/1:-602.599,0,-564.692:607:289:307:9235:8673 . . . . . 0/1:-694.928,0,-846.702:785:401:373:11010:12726 . . . . 0/1:-443.663,0,-662.305:583:322:247:7209:9631 1/1:-2088.41,-212.03,0:872:17:844:24918:554 . . 0/1:-700.951,0,-823.732:804:402:382:11069:12387 0/1:-719.472,0,-602.935:709:317:378:10880:9567 . 0/1:-627.062,0,-783.891:738:385:342:9995:11704 0/1:-794.941,0,-1000.08:926:475:430:12631:14825 . . 0/1:-1188.84,0,-1179.21:1189:578:598:18110:17833 1/1:-1880.51,-212.026,0:771:8:751:22350:219 . . 0/1:-789.33,0,-967.885:917:477:422:12388:14432 . . . . . 0/1:-635.589,0,-795.418:672:360:304:9681:11550:360,304 . 0/1:-647.674,0,-986.634:776:442:326:10121:14077:442,326 0/1:-803.058,0,-951.934:838:435:394:12249:13866:435,394 0/1:-759.267,0,-833.527:766:385:368:11490:12180:385,368 . . . . . . 0/1:-725.931,0,-815.996:758:388:358:11066:12236:388,358 . 0/1:-669.067,0,-756.947:675:350:321:10163:11121:350,321 . 0/1:-639.152,0,-795.275:683:361:316:9766:11578:361,316 chr6 112457390 . C T 14061.48 . AB=0;ABP=0;AC=157;AF=1;AN=212;AO=780;CIGAR=1X;DP=86598;DPB=798;DPRA=0;EPP=23.6003;EPPR=4.45795;GTI=0;LEN=1;MEANALT=3;MQM=38.841;MQMR=38.6667;NS=1;NUMALT=1;ODDS=1030.15;PAIRED=0.971795;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=23928;QR=164;RO=6;RPL=436;RPP=26.5736;RPPR=4.45795;RPR=344;RUN=1;SAF=429;SAP=19.9478;SAR=351;SF=0,1;SRF=4;SRP=4.45795;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.G3349A:p.G1117S,LAMA4:NM_001105207:exon25:c.G3328A:p.G1110S,LAMA4:NM_002290:exon25:c.G3328A:p.G1110S;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.7513;esp6500siv2_ea=0.6965;esp6500siv2_all=0.7513;esp6500siv2_ea=0.6965;1000g2015aug_all=0.839856;avsnp147=rs2032567;Kaviar_AF=0.713031;Kaviar_AC=110236;Kaviar_AN=154602;ExAC_ALL=0.7691;ExAC_AFR=0.8662;ExAC_AMR=0.8828;ExAC_EAS=0.8558;ExAC_FIN=0.7327;ExAC_NFE=0.7033;ExAC_OTH=0.7848;ExAC_SAS=0.8631;CLNALLELEID=53543;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=-1.16;FATHMM_pred=T;PROVEAN_score=1.43;PROVEAN_pred=N;VEST3_score=0.077;CADD_raw=2.280;CADD_phred=18.04;DANN_score=0.189;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.082;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=12.152;GDI_full_10282015=.;dpsi_max_tissue=-1.3751;dpsi_zscore=-1.662;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7741;gnomAD_exome_AFR=0.8688;gnomAD_exome_AMR=0.8730;gnomAD_exome_ASJ=0.7642;gnomAD_exome_EAS=0.8540;gnomAD_exome_FIN=0.7449;gnomAD_exome_NFE=0.7023;gnomAD_exome_OTH=0.7502;gnomAD_exome_SAS=0.8626;gnomAD_genome_ALL=0.7744;gnomAD_genome_AFR=0.8652;gnomAD_genome_AMR=0.8723;gnomAD_genome_ASJ=0.7781;gnomAD_genome_EAS=0.8668;gnomAD_genome_FIN=0.7198;gnomAD_genome_NFE=0.7204;gnomAD_genome_OTH=0.7469;Whole_Blood=.;Liver=Liver::0.294118::0.392621;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2007.09,-222.095,0:798:6:780:23928:164 0/1:-964.979,0,-1012.04:1027:515:497:14905:15344 1/1:-2141.88,-238.323,0:853:5:836:25282:168 1/1:-1601.72,-184.487,0:625:1:620:18910:27 0/1:-932.491,0,-812.651:900:421:456:14067:12416 0/1:-919.237,0,-1087.23:1026:533:466:14274:16009 1/1:-1897.56,-194.318,0:761:13:741:22707:381 1/1:-2129.51,-214.153,0:871:19:844:25749:540 1/1:-1769.35,-195.367,0:699:4:686:20710:140 . 1/1:-2079,-212.267,0:841:14:821:25215:442 1/1:-2136.77,-236.866,0:833:5:821:25085:145 0/1:-780.581,0,-772.173:784:382:391:11809:11536 0/1:-762.261,0,-655.237:751:348:387:11475:10218 0/1:-779.606,0,-683.945:740:348:384:11792:10507 1/1:-2764.57,-307.481,0:1060:3:1049:32353:104 0/1:-609.059,0,-672.844:666:339:315:9482:10227 0/1:-1668.17,0,-1423.02:1561:713:812:24658:21746 1/1:-2417.18,-277.249,0:931:0:921:28338:0 1/1:-1603.94,-184.954,0:630:1:624:18842:36 1/1:-1741.15,-201.094,0:700:3:685:20436:67 1/1:-2666.63,-291.898,0:1026:6:1011:31433:160 1/1:-1259.83,-146.156,0:515:4:504:15125:87 1/1:-2274.36,-257.187,0:877:2:870:26853:59 0/1:-850.841,0,-877.155:890:433:441:13240:13185 0/1:-590.14,0,-798.524:753:410:322:9659:11930 0/1:-843.449,0,-891.294:892:447:431:12997:13468 0/1:-964.17,0,-848.857:887:418:460:14364:12905 . 1/1:-1428.18,-156.001,0:556:5:548:16721:138 1/1:-1909.06,-205.191,0:757:9:741:22434:233 0/1:-1209.95,0,-979.452:1125:513:593:18240:15219 1/1:-2295.16,-257.128,0:908:5:893:27156:148 0/1:-314.636,0,-243.302:294:133:156:4774:3888 0/1:-751.23,0,-1044.99:894:492:392:11909:15081 1/1:-2508.9,-284.991,0:985:3:970:29485:89 0/1:-476.867,0,-353.928:423:187:229:7016:5564 1/1:-2452.98,-274.563,0:964:5:947:29050:136 0/1:-948.625,0,-815.659:912:423:479:14489:12621 0/1:-438.779,0,-388.054:419:197:216:6548:5879 0/1:-1019.57,0,-1038.46:1040:511:510:15569:15679 0/1:-674.232,0,-653.383:682:332:337:10218:9940 0/1:-753.806,0,-790.205:790:396:382:11637:11746 0/1:-848.887,0,-759.637:826:391:420:12835:11644 0/1:-1182.2,0,-1156.17:1183:573:588:17911:17332 0/1:-930.691,0,-965.299:962:490:456:14086:14535 0/1:-732.495,0,-822.574:808:415:377:11353:12477 1/1:-1251.14,-141.007,0:501:4:494:14847:100 1/1:-1672.32,-190.08,0:684:6:671:20027:158 0/1:-862.788,0,-995.221:938:487:436:13397:14729 1/1:-2157.78,-238.521,0:829:4:820:25192:114 1/1:-2134.71,-246.945,0:857:4:840:25078:100 1/1:-2701.15,-288.149,0:1043:9:1023:31940:254 . 0/1:-597.376,0,-719.209:677:360:310:9268:10681 0/1:-677.41,0,-676.464:694:346:331:10343:10149 1/1:-2163.28,-240.469,0:859:6:846:25645:193 0/1:-543.171,0,-556.919:590:291:281:8460:8618 0/1:-725.17,0,-636.048:694:324:359:10835:9709 0/1:-682.528,0,-731.382:725:355:356:10619:10953 1/1:-1479.2,-167.592,0:593:5:580:17618:123 0/1:-948.134,0,-910.987:950:460:479:14514:13831 0/1:-733.141,0,-656.783:718:345:355:11000:10062 . 1/1:-2608.19,-281.749,0:1018:8:999:31048:242 1/1:-2227.31,-236.344,0:888:11:872:26582:331 0/1:-484.5,0,-591.576:579:298:265:7832:8953 1/1:-2486.37,-276.928,0:989:8:968:29786:254 1/1:-1467.12,-164.598,0:588:4:580:17434:126 1/1:-2184.15,-238.835,0:883:9:860:26014:257 0/1:-716.195,0,-706.544:724:360:358:10895:10750 0/1:-976.575,0,-1135.81:1048:550:487:15230:16805 0/1:-1017.08,0,-1097.7:1082:552:513:15524:16447 . 1/1:-2007.27,-225.741,0:778:2:769:23733:72 1/1:-2673.8,-275.81,0:1037:11:1016:31694:379 1/1:-2078.21,-236.28,0:820:3:809:24457:91 0/1:-1047.36,0,-989.489:1014:494:502:15695:14922 . 1/1:-1444.51,-164.479,0:566:2:559:16876:50 1/1:-2164.86,-238.16,0:858:7:840:25635:209 1/1:-2600.65,-281.974,0:1022:10:1004:30896:272 1/1:-2710.15,-301.236,0:1044:4:1035:31944:135 1/1:-2028.36,-219.407,0:801:7:790:24084:231 1/1:-1720.83,-179.896,0:700:13:680:20516:328 0/1:-649.586,0,-716.803:717:365:335:10141:10765 1/1:-1838.39,-201.656,0:721:5:709:21735:150 1/1:-2206.68,-219.335,0:898:19:868:26433:578 1/1:-1220.09,-131.189,0:479:4:472:14369:136 0/1:-826.609,0,-907.822:888:456:417:12652:13516 1/1:-2981.39,-320.946,0:1155:9:1136:35146:269 1/1:-1929.1,-226.977,0:763:0:754:22793:0 . 0/1:-923.557,0,-787.026:870:405:451:13989:12195 0/1:-842.976,0,-902.223:898:456:425:12983:13662 . 0/1:-883.842,0,-729.089:759:352:399:12885:10953:352,399 0/1:-1049.63,0,-911.753:917:428:479:15249:13666:428,479 0/1:-862.702,0,-1222.79:995:556:423:13379:17391:556,423 0/1:-433.132,0,-448.487:423:212:207:6495:6579:212,207 0/1:-690.808,0,-775.953:707:364:332:10519:11436:364,332 . 1/1:-2135.15,-214.066,0:798:9:786:25004:285:9,786 0/1:-838.945,0,-930.476:845:430:403:12626:13670:430,403 0/1:-780.198,0,-820.762:777:391:373:11858:12063:391,373 0/1:-708.489,0,-790.126:730:381:336:10688:11598:381,336 1/1:-2222.64,-240.944,0:823:2:813:25871:50:2,813 0/1:-688.358,0,-749.333:682:356:319:10345:11092:356,319 0/1:-831.846,0,-882.316:837:428:401:12604:13099:428,401 . 1/1:-2068.56,-227.278,0:764:0:755:23847:0:0,755 1/1:-2064.16,-211.618,0:790:8:775:24409:272:8,775 0/1:-869.613,0,-974.581:885:461:412:13048:14193:461,412 0/1:-684.96,0,-720.379:686:340:332:10304:10584:340,332 0/1:-941.755,0,-922.034:887:438:435:13857:13654:438,435 1/1:-1838.97,-196.287,0:688:4:675:21325:91:4,675 chr6 112457418 . T G 9276.23 . AB=0.498399;ABP=3.03116;AC=1;AF=0.5;AN=2;AO=467;CIGAR=1X;DP=937;DPB=937;DPRA=0;EPP=5.91645;EPPR=8.70635;GTI=0;LEN=1;MEANALT=3;MQM=39.3469;MQMR=39.2505;NS=1;NUMALT=1;ODDS=2135.93;PAIRED=0.974304;PAIREDR=0.961456;PAO=0;PQA=0;PQR=0;PRO=0;QA=14223;QR=14936;RO=467;RPL=223;RPP=5.06088;RPPR=5.91645;RPR=244;RUN=1;SAF=245;SAP=5.47006;SAR=222;SF=0;SRF=250;SRP=8.07397;SRR=217;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.A3321C:p.L1107L,LAMA4:NM_001105207:exon25:c.A3300C:p.L1100L,LAMA4:NM_002290:exon25:c.A3300C:p.L1100L;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs781818041;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.65e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.001e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4494;dpsi_zscore=-1.039;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.145e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.797e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-936.245,0,-980.45:937:467:467:14223:14936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112457428 . T C 9690.15 . AB=0.485053;ABP=5.02263;AC=1;AF=0.5;AN=2;AO=503;CIGAR=1X;DP=1037;DPB=1037;DPRA=0;EPP=21.2498;EPPR=22.2457;GTI=0;LEN=1;MEANALT=3;MQM=37.6203;MQMR=39.1226;NS=1;NUMALT=1;ODDS=2231.24;PAIRED=0.960239;PAIREDR=0.969349;PAO=0;PQA=0;PQR=0;PRO=0;QA=15371;QR=16483;RO=522;RPL=234;RPP=8.29868;RPPR=3.60933;RPR=269;RUN=1;SAF=292;SAP=31.3344;SAR=211;SF=0;SRF=294;SRP=21.1309;SRR=228;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.A3311G:p.N1104S,LAMA4:NM_001105207:exon25:c.A3290G:p.N1097S,LAMA4:NM_002290:exon25:c.A3290G:p.N1097S;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs542157463;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=7.428e-05;ExAC_AFR=9.621e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=209872;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.11;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.899;MutationTaster_pred=N;MutationAssessor_score=1.81;MutationAssessor_pred=L;FATHMM_score=-1.36;FATHMM_pred=T;PROVEAN_score=-2.22;PROVEAN_pred=N;VEST3_score=0.044;CADD_raw=-0.640;CADD_phred=0.100;DANN_score=0.915;fathmm-MKL_coding_score=0.817;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.218;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=-5.76;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=-0.220;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=13.982;GDI_full_10282015=.;dpsi_max_tissue=-0.7763;dpsi_zscore=-1.327;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.073e-05;gnomAD_exome_AFR=6.536e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.19e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-982.235,0,-1090.22:1037:522:503:15371:16483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112457471 . G A 12524.68 . AB=0;ABP=0;AC=157;AF=1;AN=212;AO=714;CIGAR=1X;DP=79672;DPB=727;DPRA=0;EPP=13.9589;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=39.1723;MQMR=42;NS=1;NUMALT=1;ODDS=960.796;PAIRED=0.983193;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20615;QR=104;RO=3;RPL=311;RPP=28.7517;RPPR=3.73412;RPR=403;RUN=1;SAF=328;SAP=13.2412;SAR=386;SF=0,1;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.7527;esp6500siv2_ea=0.6959;esp6500siv2_all=0.7527;esp6500siv2_ea=0.6959;1000g2015aug_all=0.840455;avsnp147=rs2032568;Kaviar_AF=0.725036;Kaviar_AC=112092;Kaviar_AN=154602;ExAC_ALL=0.7694;ExAC_AFR=0.8707;ExAC_AMR=0.8830;ExAC_EAS=0.8558;ExAC_FIN=0.7314;ExAC_NFE=0.7030;ExAC_OTH=0.7833;ExAC_SAS=0.8630;CLNALLELEID=53542;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4392;dpsi_zscore=-1.028;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7744;gnomAD_exome_AFR=0.8736;gnomAD_exome_AMR=0.8731;gnomAD_exome_ASJ=0.7640;gnomAD_exome_EAS=0.8540;gnomAD_exome_FIN=0.7432;gnomAD_exome_NFE=0.7021;gnomAD_exome_OTH=0.7499;gnomAD_exome_SAS=0.8626;gnomAD_genome_ALL=0.7757;gnomAD_genome_AFR=0.8712;gnomAD_genome_AMR=0.8726;gnomAD_genome_ASJ=0.7781;gnomAD_genome_EAS=0.8671;gnomAD_genome_FIN=0.7199;gnomAD_genome_NFE=0.7197;gnomAD_genome_OTH=0.7469;Whole_Blood=.;Liver=Liver::0.294118::0.392621;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1742.78,-206.638,0:727:3:714:20615:104 0/1:-931.411,0,-860.145:922:422:487:14063:13143 1/1:-1774.21,-206.775,0:743:5:728:21130:158 1/1:-1254.8,-156.679,0:544:1:530:14826:36 0/1:-832.501,0,-676.309:814:340:452:12755:10585 0/1:-686.972,0,-990.881:879:460:395:11078:14430 1/1:-1671.58,-190.858,0:707:8:689:19804:230 1/1:-1985.45,-199.253,0:866:22:829:24207:650 1/1:-1650.27,-199.092,0:687:2:678:19492:63 . 1/1:-1838.51,-196.267,0:770:11:748:21990:366 1/1:-2026.75,-247.486,0:863:3:847:23810:108 0/1:-679.161,0,-677.404:710:329:362:10385:10179 0/1:-730.519,0,-596.923:730:307:401:11138:9643 0/1:-530.47,0,-631.423:600:298:279:8195:9260 1/1:-2444.53,-295.31,0:991:0:981:28592:0 0/1:-556.853,0,-548.087:595:277:303:8621:8428 0/1:-1456.83,0,-1112.69:1350:570:749:21691:17533 1/1:-1931.7,-233.605,0:813:2:794:22667:68 1/1:-1389.51,-170.926,0:578:1:571:16327:14 1/1:-1473.36,-185.68,0:624:1:620:17265:14 1/1:-2302.8,-277.236,0:968:5:957:27276:139 1/1:-1241.54,-152.023,0:531:3:524:14930:104 1/1:-2133.43,-263.401,0:886:0:875:24906:0 0/1:-845.515,0,-802.558:873:395:452:12921:12248 0/1:-534.677,0,-648.392:647:319:310:8614:9751 0/1:-753.808,0,-669.777:760:330:405:11425:10350 0/1:-817.201,0,-737.323:854:372:449:12492:11458 . 1/1:-1401.5,-167.685,0:586:2:575:16562:68 1/1:-1684.88,-185.304,0:713:9:690:20074:285 0/1:-962.673,0,-938.213:989:460:511:14864:14352 1/1:-1879.66,-225.148,0:801:4:786:22346:144 0/1:-260.347,0,-296.59:298:147:142:4085:4473 0/1:-820.022,0,-879.818:902:423:448:12801:13307 1/1:-2076.1,-255.236,0:876:2:867:24389:72 0/1:-409.805,0,-242.551:352:133:209:5981:3970 1/1:-2227.58,-270.112,0:923:2:910:26231:50 0/1:-687.593,0,-729.798:769:357:386:10986:11085 0/1:-375.037,0,-297.503:370:154:204:5677:4675 0/1:-853.658,0,-883.201:918:433:462:13110:13424 0/1:-563.815,0,-580.565:591:273:306:8708:8718 0/1:-692.001,0,-704.104:720:343:362:10671:10666 0/1:-741.03,0,-551.501:686:278:395:11303:8850 0/1:-1042.66,0,-928.969:1089:476:575:16010:14393 0/1:-831.016,0,-729.743:836:376:442:12472:11377 0/1:-733.564,0,-696.525:745:343:380:11165:10622 1/1:-1132.93,-123.907,0:479:7:469:13452:239 1/1:-1449.63,-171.969,0:633:7:624:17460:228 0/1:-825.382,0,-973.913:940:467:446:12735:14601 1/1:-1906.61,-236.455,0:803:1:794:22112:32 1/1:-1942.43,-236.499,0:797:1:787:22769:36 1/1:-2373.95,-277.157,0:991:8:973:27814:205 . 0/1:-539.468,0,-546.094:590:274:302:8504:8374 0/1:-606.405,0,-546.311:620:272:329:9230:8417 1/1:-1986.02,-244.27,0:830:1:821:23220:36 0/1:-542.11,0,-433.458:549:232:295:8234:7001 0/1:-703.875,0,-529.315:655:267:363:10526:8305 0/1:-607.64,0,-530.012:608:265:321:9170:8194 1/1:-1285.19,-155.173,0:544:3:528:15244:64 0/1:-830.291,0,-737.572:818:364:426:12540:11321 0/1:-672.465,0,-587.328:663:296:352:10111:9315 . 1/1:-2112.42,-255.329,0:912:6:891:25169:179 1/1:-1998.44,-243.368,0:827:1:818:23541:36 0/1:-410.419,0,-468.626:502:243:238:6506:7144 1/1:-2081.62,-248.435,0:877:5:859:24884:132 1/1:-1243.35,-154.2,0:533:2:525:14614:50 1/1:-1967.33,-227.359,0:855:10:832:23449:303 0/1:-712.443,0,-597.032:686:299:376:10612:9344 0/1:-949.9,0,-850.514:934:416:493:14157:12906 0/1:-797.359,0,-884.348:897:427:439:12360:13349 . 1/1:-1972.18,-244.737,0:827:0:813:23193:0 1/1:-2379.28,-282.455,0:997:6:979:27950:179 1/1:-1945.34,-237.649,0:834:3:818:22981:108 0/1:-830.949,0,-901.585:900:445:434:12724:13565 . 1/1:-1479.26,-169.949,0:613:5:602:17418:149 1/1:-2060.54,-234.432,0:852:7:831:24375:208 1/1:-2162.16,-255.554,0:906:5:889:25464:154 1/1:-2308.38,-262.486,0:949:7:933:27220:240 1/1:-1822.13,-212.506,0:765:7:749:21510:182 1/1:-1636.13,-192.45,0:707:8:690:19549:199 0/1:-586.388,0,-541.925:606:269:319:9116:8352 1/1:-1487.91,-172.138,0:626:5:611:17658:150 1/1:-1789.38,-198.621,0:767:12:744:21518:372 1/1:-1064.59,-121.258,0:452:5:441:12618:146 0/1:-794.437,0,-789.787:835:386:422:12025:11996 1/1:-2658.17,-322.277,0:1112:3:1097:31211:100 1/1:-1713.48,-213.43,0:720:0:709:20169:0 . 0/1:-830.725,0,-625.451:779:325:439:12549:9941 0/1:-717.601,0,-828.887:816:403:388:11261:12417 . 0/1:-689.599,0,-739.022:704:342:336:10377:10895:342,336 0/1:-967.831,0,-778.545:840:380:444:14121:11867:380,444 0/1:-800.874,0,-891.709:837:411:399:12107:13122:411,399 0/1:-425.253,0,-357.83:402:173:210:6308:5471:173,210 0/1:-676.655,0,-666.756:660:320:329:10101:9941:320,329 . 1/1:-2046.01,-207.883,0:780:9:763:24049:278:9,763 0/1:-811.544,0,-798.309:772:376:381:12077:12089:376,381 0/1:-750.288,0,-742.795:727:354:355:11298:10963:354,355 0/1:-739.275,0,-693.807:704:324:359:10941:10364:324,359 1/1:-2186.32,-247.748,0:829:0:823:25365:0:0,823 0/1:-610.768,0,-627.32:595:289:291:9072:9270:289,291 0/1:-778.705,0,-650.879:708:320:370:11526:10012:320,370 . 1/1:-2117.85,-229.345,0:786:2:780:24572:68:2,780 1/1:-2054.93,-213.001,0:790:8:772:24221:247:8,772 0/1:-825.839,0,-731.481:756:350:380:12055:10894:350,380 0/1:-615.816,0,-648.879:606:299:294:9277:9529:299,294 0/1:-822.3,0,-787.626:766:364:385:12160:11722:364,385 1/1:-1624.09,-177.732,0:608:2:601:18702:42:2,601 chr6 112460359 . G A 2792.10 . AB=0.430108;ABP=18.7943;AC=1;AF=0.5;AN=2;AO=160;CIGAR=1X;DP=372;DPB=372;DPRA=0;EPP=16.9077;EPPR=6.79726;GTI=0;LEN=1;MEANALT=3;MQM=40.3563;MQMR=39.8502;NS=1;NUMALT=1;ODDS=642.905;PAIRED=1;PAIREDR=0.980676;PAO=0;PQA=0;PQR=0;PRO=0;QA=4908;QR=6458;RO=207;RPL=26;RPP=161.311;RPPR=183.033;RPR=134;RUN=1;SAF=122;SAP=98.7722;SAR=38;SF=1;SRF=151;SRP=97.6844;SRR=56;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon24:c.C3245T:p.P1082L,LAMA4:NM_001105207:exon24:c.C3224T:p.P1075L,LAMA4:NM_002290:exon24:c.C3224T:p.P1075L;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs782040284;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=209873;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.276;SIFT_pred=T;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.489;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-1.05;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_pred=N;VEST3_score=0.521;CADD_raw=4.673;CADD_phred=24.5;DANN_score=0.997;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.703;MetaSVM_pred=T;MetaLR_score=0.224;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.09;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=16.456;GDI_full_10282015=.;dpsi_max_tissue=-0.0795;dpsi_zscore=-0.383;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.131e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.795e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-315.245,0,-444.562:372:207:160:4908:6458:207,160 . chr6 112460365 . C T 2585.30 . AB=0.448276;ABP=8.40154;AC=3;AF=0.5;AN=6;AO=104;CIGAR=1X;DP=1020;DPB=232;DPRA=0;EPP=19.3799;EPPR=8.37402;GTI=0;LEN=1;MEANALT=3;MQM=35.0385;MQMR=37.6923;NS=1;NUMALT=1;ODDS=342.152;PAIRED=1;PAIREDR=0.948718;PAO=0;PQA=0;PQR=0;PRO=0;QA=3058;QR=3439;RO=117;RPL=17;RPP=105.32;RPPR=81.4246;RPR=87;RUN=1;SAF=83;SAP=83.2713;SAR=21;SF=0;SRF=91;SRP=81.4246;SRR=26;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon24:c.G3239A:p.R1080Q,LAMA4:NM_001105207:exon24:c.G3218A:p.R1073Q,LAMA4:NM_002290:exon24:c.G3218A:p.R1073Q;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00359425;avsnp147=rs41289902;Kaviar_AF=0.0099158;Kaviar_AC=1533;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.0020;ExAC_AMR=0.0061;ExAC_EAS=0.0001;ExAC_FIN=0.0224;ExAC_NFE=0.0138;ExAC_OTH=0.0099;ExAC_SAS=0.0027;CLNALLELEID=53541;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.335;MutationAssessor_pred=L;FATHMM_score=-1.78;FATHMM_pred=D;PROVEAN_score=-0.85;PROVEAN_pred=N;VEST3_score=0.843;CADD_raw=8.015;CADD_phred=35;DANN_score=1.000;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_pred=D;MetaSVM_score=0.129;MetaSVM_pred=D;MetaLR_score=0.611;MetaLR_pred=D;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.98;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.443;GDI_full_10282015=.;dpsi_max_tissue=-0.0685;dpsi_zscore=-0.342;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0104;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0077;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0243;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0022;gnomAD_genome_ALL=0.0102;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0243;gnomAD_genome_NFE=0.0135;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-176.548,0,-224.488:232:117:104:3058:3439 . . . . . 0/1:-244.417,0,-198.934:272:122:144:3942:3497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-446.259,0,-436.837:516:242:257:7164:7054 . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112463362 . C T 2766.84 . AB=0.46281;ABP=7.37119;AC=1;AF=0.5;AN=2;AO=168;CIGAR=1X;DP=363;DPB=363;DPRA=0;EPP=5.54368;EPPR=4.72839;GTI=0;LEN=1;MEANALT=3;MQM=35.4762;MQMR=36.5769;NS=1;NUMALT=1;ODDS=637.088;PAIRED=0.940476;PAIREDR=0.945055;PAO=0;PQA=0;PQR=0;PRO=0;QA=4943;QR=5392;RO=182;RPL=78;RPP=4.87156;RPPR=4.72839;RPR=90;RUN=1;SAF=79;SAP=4.30284;SAR=89;SF=0;SRF=78;SRP=11.0758;SRR=104;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon20:c.G2626A:p.E876K,LAMA4:NM_001105207:exon20:c.G2605A:p.E869K,LAMA4:NM_002290:exon20:c.G2605A:p.E869K;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;esp6500siv2_all=0.0002;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs147206383;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.295e-05;ExAC_AFR=0.0003;ExAC_AMR=8.642e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.803;SIFT_pred=T;Polyphen2_HDIV_score=0.224;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-1.11;FATHMM_pred=T;PROVEAN_score=-0.89;PROVEAN_pred=N;VEST3_score=0.179;CADD_raw=0.992;CADD_phred=10.61;DANN_score=0.979;fathmm-MKL_coding_score=0.455;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.875;MetaSVM_pred=T;MetaLR_score=0.131;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.28;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.006;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=14.894;GDI_full_10282015=.;dpsi_max_tissue=-0.1107;dpsi_zscore=-0.481;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.25e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.688e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-284.375,0,-332.868:363:182:168:4943:5392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112463419 . C T 5106.55 . AB=0.509091;ABP=3.44459;AC=1;AF=0.5;AN=2;AO=308;CIGAR=1X;DP=605;DPB=605;DPRA=0;EPP=5.29458;EPPR=7.28059;GTI=0;LEN=1;MEANALT=3;MQM=37.4545;MQMR=38.4275;NS=1;NUMALT=1;ODDS=1159.56;PAIRED=0.948052;PAIREDR=0.962825;PAO=0;PQA=0;PQR=0;PRO=0;QA=8340;QR=8240;RO=269;RPL=133;RPP=15.4469;RPPR=61.3333;RPR=175;RUN=1;SAF=158;SAP=3.46152;SAR=150;SF=0;SRF=152;SRP=12.899;SRR=117;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon20:c.G2569A:p.A857T,LAMA4:NM_001105207:exon20:c.G2548A:p.A850T,LAMA4:NM_002290:exon20:c.G2548A:p.A850T;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs144123257;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=7.415e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=178225;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.324;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_pred=N;MutationTaster_score=0.511;MutationTaster_pred=N;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=0.9;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=1.299;CADD_phred=12.26;DANN_score=0.876;fathmm-MKL_coding_score=0.608;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.081;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=3.14;phyloP7way_vertebrate=-0.032;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.978;phastCons20way_mammalian=0.878;SiPhy_29way_logOdds=4.138;GDI_full_10282015=.;dpsi_max_tissue=0.3483;dpsi_zscore=0.957;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.719e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-520.25,0,-518.907:605:269:308:8340:8240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112466073 . G A 7026.14 . AB=0.457531;ABP=16.8433;AC=1;AF=0.5;AN=2;AO=404;CIGAR=1X;DP=883;DPB=883;DPRA=0;EPP=30.8739;EPPR=7.2961;GTI=0;LEN=1;MEANALT=3;MQM=38.8218;MQMR=39.5307;NS=1;NUMALT=1;ODDS=1617.83;PAIRED=0.955446;PAIREDR=0.975877;PAO=0;PQA=0;PQR=0;PRO=0;QA=11464;QR=13870;RO=456;RPL=174;RPP=19.8661;RPPR=7.2961;RPR=230;RUN=1;SAF=214;SAP=6.10626;SAR=190;SF=0;SRF=256;SRP=17.9439;SRR=200;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=LAMA4:NM_001105206:exon19:c.C2416T:p.R806X,LAMA4:NM_001105207:exon19:c.C2395T:p.R799X,LAMA4:NM_002290:exon19:c.C2395T:p.R799X;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs373382793;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.254e-06;ExAC_AFR=0;ExAC_AMR=8.642e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.010;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=12.165;CADD_phred=38;DANN_score=0.998;fathmm-MKL_coding_score=0.742;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=2.25;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=4.707;GDI_full_10282015=.;dpsi_max_tissue=-20.9302;dpsi_zscore=-3.210;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.067e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-715.856,0,-916.955:883:456:404:11464:13870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112469404 . C A 15328.30 . AB=0.46961;ABP=18.452;AC=1;AF=0.5;AN=2;AO=904;CIGAR=1X;DP=1925;DPB=1925;DPRA=0;EPP=91.5603;EPPR=116.802;GTI=0;LEN=1;MEANALT=3;MQM=38.6692;MQMR=39.0877;NS=1;NUMALT=1;ODDS=3529.47;PAIRED=0.946903;PAIREDR=0.920363;PAO=0;PQA=0;PQR=0;PRO=0;QA=25929;QR=29936;RO=992;RPL=193;RPP=647.544;RPPR=801.587;RPR=711;RUN=1;SAF=373;SAP=62.9756;SAR=531;SF=0;SRF=416;SRP=59.0483;SRR=576;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon18:c.G2308T:p.D770Y,LAMA4:NM_001105207:exon18:c.G2287T:p.D763Y,LAMA4:NM_002290:exon18:c.G2287T:p.D763Y;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs370369688;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.472e-05;ExAC_AFR=0;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=0.89;FATHMM_pred=T;PROVEAN_score=-2.15;PROVEAN_pred=N;VEST3_score=0.906;CADD_raw=6.411;CADD_phred=29.7;DANN_score=0.995;fathmm-MKL_coding_score=0.921;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.904;MetaSVM_pred=T;MetaLR_score=0.157;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.39;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.975;phastCons20way_mammalian=0.984;SiPhy_29way_logOdds=13.587;GDI_full_10282015=.;dpsi_max_tissue=-2.9399;dpsi_zscore=-2.140;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.228e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1625.58,0,-1965.1:1925:992:904:25929:29936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112471688 . G C 8419.93 . AB=0.455338;ABP=18.9155;AC=60;AF=0.5;AN=104;AO=418;CIGAR=1X;DP=39777;DPB=918;DPRA=0;EPP=52.9022;EPPR=29.7767;GTI=0;LEN=1;MEANALT=3;MQM=37.8995;MQMR=39.6778;NS=1;NUMALT=1;ODDS=1687.85;PAIRED=0.980861;PAIREDR=0.941788;PAO=0;PQA=0;PQR=0;PRO=0;QA=12671;QR=15229;RO=481;RPL=77;RPP=365.075;RPPR=417.482;RPR=341;RUN=1;SAF=243;SAP=27.0316;SAR=175;SF=0,1;SRF=246;SRP=3.55655;SRR=235;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.3280;esp6500siv2_ea=0.2797;esp6500siv2_all=0.3280;esp6500siv2_ea=0.2797;1000g2015aug_all=0.3127;avsnp147=rs3734286;Kaviar_AF=0.266303;Kaviar_AC=41171;Kaviar_AN=154602;ExAC_ALL=0.2658;ExAC_AFR=0.4264;ExAC_AMR=0.1870;ExAC_EAS=0.4178;ExAC_FIN=0.1739;ExAC_NFE=0.2714;ExAC_OTH=0.2258;ExAC_SAS=0.1567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2258;dpsi_zscore=0.771;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2603;gnomAD_exome_AFR=0.4350;gnomAD_exome_AMR=0.1895;gnomAD_exome_ASJ=0.3235;gnomAD_exome_EAS=0.4271;gnomAD_exome_FIN=0.1746;gnomAD_exome_NFE=0.2705;gnomAD_exome_OTH=0.2666;gnomAD_exome_SAS=0.1609;gnomAD_genome_ALL=0.3065;gnomAD_genome_AFR=0.4347;gnomAD_genome_AMR=0.2136;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.4224;gnomAD_genome_FIN=0.1663;gnomAD_genome_NFE=0.2618;gnomAD_genome_OTH=0.2321;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-788.214,0,-1031.44:918:481:418:12671:15229 1/1:-1898.17,-207.129,0:817:19:787:22952:415 . . . 0/1:-549.954,0,-654.672:633:316:307:8772:9941 0/1:-852.514,0,-865.549:895:427:449:13175:13243 . . 1/1:-1603,-175.697,0:709:17:680:19822:432 . . . . 0/1:-924.7,0,-1100.49:1036:522:494:14653:16570 . . . 0/1:-503.455,0,-573.63:565:277:279:8145:8858 . 0/1:-816.585,0,-887.094:874:427:431:12847:13441 0/1:-409.09,0,-468.485:470:231:233:6695:7263 1/1:-2152.33,-221.039,0:908:27:869:26284:594 0/1:-800.506,0,-812.593:831:408:408:12361:12660 0/1:-605.247,0,-629.243:675:321:340:9697:9896 . . . . 0/1:-544.108,0,-775.803:682:363:313:9055:11627 0/1:-892.234,0,-918.371:925:446:466:14040:13998 . . 0/1:-849.386,0,-900.259:897:431:450:13398:13814 0/1:-800.026,0,-933.501:898:452:433:12820:14279 . 0/1:-829.613,0,-771.831:818:373:429:12706:12005 . . . 0/1:-653.717,0,-675.113:705:333:360:10351:10383 0/1:-767.081,0,-851.428:812:407:399:12035:12831 . . . . 0/1:-335.586,0,-448.003:385:202:181:5371:6483 1/1:-1492.05,-155.089,0:641:16:616:18108:414 0/1:-900.908,0,-829.133:888:406:471:14111:12984 . 0/1:-691.429,0,-668.94:750:349:389:11061:10651 0/1:-939.444,0,-918.906:959:450:494:14420:14254 . . 0/1:-545.214,0,-615.344:591:297:282:8566:9319 0/1:-756.895,0,-718.427:757:345:397:11649:10957 0/1:-481.356,0,-495.95:519:244:264:7600:7738 . . 0/1:-443.812,0,-552.656:542:276:258:7416:8503 0/1:-874.161,0,-1051.02:989:508:466:13969:15887 . . 0/1:-925.842,0,-972.219:968:478:477:14468:14923 . 0/1:-418.856,0,-480.489:466:231:224:6718:7407 1/1:-1591.82,-169.868,0:668:14:645:19495:349 0/1:-573.739,0,-648.981:648:311:323:9163:9844 . . . . . 0/1:-616.868,0,-724.511:682:340:333:9837:10822 . . . . 0/1:-461.937,0,-490.436:501:239:256:7406:7613 1/1:-1939.88,-196.475,0:840:26:803:23776:685 . 0/1:-872.095,0,-880.224:906:426:470:13735:13465 0/1:-709.336,0,-719.579:731:348:373:11007:10968 0/1:-649.366,0,-576.528:645:290:350:10005:9076 . 0/1:-550.577,0,-616.307:575:279:288:8476:9147 1/1:-1921.97,-180.33,0:835:29:791:23657:822 . . 0/1:-999.937,0,-1198.48:1106:564:528:16138:17979 1/1:-1527.06,-159.64,0:667:19:631:18771:443 . . 0/1:-694.739,0,-821.558:775:402:360:11097:12332 . . . 0/1:-1024.69,0,-1129.77:1002:504:484:15323:16433:504,484 . 0/1:-772.845,0,-783.875:744:361:374:11699:11626:361,374 . 0/1:-787.241,0,-832.703:758:373:375:11790:12228:373,375 0/1:-1027.8,0,-925.882:928:433:485:15115:13989:433,485 . . . . . . . 0/1:-985.969,0,-843.49:867:391:467:14530:12772:391,467 . 0/1:-820.59,0,-841.665:778:378:389:12314:12333:378,389 0/1:-769.938,0,-908.481:776:399:370:11737:13067:399,370 0/1:-910.577,0,-778.507:822:380:439:13625:12119:380,439 chr6 112476767 . A G 5715.62 . AB=0.495913;ABP=3.1168;AC=1;AF=0.5;AN=2;AO=364;CIGAR=1X;DP=734;DPB=734;DPRA=0;EPP=77.8426;EPPR=71.6077;GTI=0;LEN=1;MEANALT=3;MQM=38.6648;MQMR=40.1404;NS=1;NUMALT=1;ODDS=1316.07;PAIRED=0.964286;PAIREDR=0.968481;PAO=0;PQA=0;PQR=0;PRO=0;QA=9538;QR=10260;RO=349;RPL=98;RPP=171.383;RPPR=91.1198;RPR=266;RUN=1;SAF=178;SAP=3.3921;SAR=186;SF=0;SRF=181;SRP=4.06182;SRR=168;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon15:c.T1959C:p.D653D,LAMA4:NM_001105207:exon15:c.T1938C:p.D646D,LAMA4:NM_002290:exon15:c.T1938C:p.D646D;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=.;avsnp147=rs143269044;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0014;ExAC_OTH=0.0022;ExAC_SAS=0.0014;CLNALLELEID=178203;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0131;dpsi_zscore=-0.059;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-604.356,0,-670.8:734:349:364:9538:10260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112480041 . A G 7094.99 . AB=0.498875;ABP=3.02496;AC=13;AF=0.5;AN=24;AO=665;CIGAR=1X;DP=9003;DPB=1333;DPRA=0;EPP=22.3707;EPPR=31.9998;GTI=0;LEN=1;MEANALT=3;MQM=40.2256;MQMR=40.0647;NS=1;NUMALT=1;ODDS=2760.74;PAIRED=0.971429;PAIREDR=0.973186;PAO=0;PQA=0;PQR=0;PRO=0;QA=18666;QR=18954;RO=634;RPL=382;RPP=35.0142;RPPR=45.9739;RPR=283;RUN=1;SAF=416;SAP=94.0783;SAR=249;SF=0,1;SRF=422;SRP=154.054;SRR=212;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon14:c.T1710C:p.S570S,LAMA4:NM_001105207:exon14:c.T1689C:p.S563S,LAMA4:NM_002290:exon14:c.T1689C:p.S563S;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0733;esp6500siv2_ea=0.0881;esp6500siv2_all=0.0733;esp6500siv2_ea=0.0881;1000g2015aug_all=0.091254;avsnp147=rs3752577;Kaviar_AF=0.100413;Kaviar_AC=15524;Kaviar_AN=154602;ExAC_ALL=0.1044;ExAC_AFR=0.0422;ExAC_AMR=0.1416;ExAC_EAS=0.0991;ExAC_FIN=0.1841;ExAC_NFE=0.0987;ExAC_OTH=0.1236;ExAC_SAS=0.1104;CLNALLELEID=53518;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3958;dpsi_zscore=1.017;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1068;gnomAD_exome_AFR=0.0399;gnomAD_exome_AMR=0.1334;gnomAD_exome_ASJ=0.0732;gnomAD_exome_EAS=0.0977;gnomAD_exome_FIN=0.1849;gnomAD_exome_NFE=0.0964;gnomAD_exome_OTH=0.1024;gnomAD_exome_SAS=0.1088;gnomAD_genome_ALL=0.1078;gnomAD_genome_AFR=0.0395;gnomAD_genome_AMR=0.1079;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0896;gnomAD_genome_FIN=0.1808;gnomAD_genome_NFE=0.1301;gnomAD_genome_OTH=0.1605;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-1227.27,0,-1229.87:1333:634:665:18666:18954 . . . . . . . . . . . . . . 0/1:-573.707,0,-823.517:749:402:326:9164:12206 . . 0/1:-709.098,0,-737.568:798:382:395:10923:11529 . 0/1:-709.249,0,-1041.37:949:504:413:11450:15317 . . 0/1:-838.376,0,-835.659:883:409:454:12586:12603 . . . . 0/1:-570.257,0,-809.677:754:393:343:9211:11875 . . . . . . . . . . . . . . . . . . . 1/1:-1647.75,-191.563,0:734:7:693:19270:217 . . . . . . . . . . . . 0/1:-503.908,0,-506.221:546:253:276:7584:7748 . . . . . . . . . . 0/1:-626.591,0,-734.498:755:372:358:9777:10998 . . . 0/1:-688.508,0,-722.111:757:368:375:10478:11195 . . . 0/1:-449.898,0,-579.778:500:265:223:6850:8403:265,223 . 0/1:-236.675,0,-276.058:245:125:118:3515:3986:125,118 . . . . . . . . . . . . . . . . chr6 112493872 . A G 22145.81 . AB=0.527305;ABP=10.244;AC=152;AF=0.5;AN=198;AO=589;CIGAR=1X;DP=136130;DPB=1117;DPRA=0;EPP=23.748;EPPR=31.4475;GTI=0;LEN=1;MEANALT=3;MQM=37.1986;MQMR=37.6667;NS=1;NUMALT=1;ODDS=1957.18;PAIRED=0.908319;PAIREDR=0.952096;PAO=0;PQA=0;PQR=0;PRO=0;QA=16137;QR=14524;RO=501;RPL=192;RPP=157.944;RPPR=91.6419;RPR=397;RUN=1;SAF=305;SAP=4.63614;SAR=284;SF=0,1;SRF=263;SRP=5.71922;SRR=238;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon12:c.T1492C:p.Y498H,LAMA4:NM_001105207:exon12:c.T1471C:p.Y491H,LAMA4:NM_002290:exon12:c.T1471C:p.Y491H;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.6488;esp6500siv2_ea=0.6020;esp6500siv2_all=0.6488;esp6500siv2_ea=0.6020;1000g2015aug_all=0.758387;avsnp147=rs1050348;Kaviar_AF=0.657656;Kaviar_AC=101675;Kaviar_AN=154602;ExAC_ALL=0.6649;ExAC_AFR=0.7509;ExAC_AMR=0.7140;ExAC_EAS=0.8228;ExAC_FIN=0.5664;ExAC_NFE=0.6004;ExAC_OTH=0.6641;ExAC_SAS=0.7941;CLNALLELEID=53515;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.665;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.487;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.755;MutationAssessor_pred=N;FATHMM_score=2.95;FATHMM_pred=T;PROVEAN_score=1.23;PROVEAN_pred=N;VEST3_score=0.035;CADD_raw=-0.041;CADD_phred=2.212;DANN_score=0.117;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.899;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.138;phastCons7way_vertebrate=0.974;phastCons20way_mammalian=0.782;SiPhy_29way_logOdds=4.881;GDI_full_10282015=.;dpsi_max_tissue=-1.0873;dpsi_zscore=-1.521;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6640;gnomAD_exome_AFR=0.7565;gnomAD_exome_AMR=0.7151;gnomAD_exome_ASJ=0.6750;gnomAD_exome_EAS=0.8216;gnomAD_exome_FIN=0.5594;gnomAD_exome_NFE=0.5971;gnomAD_exome_OTH=0.6585;gnomAD_exome_SAS=0.7896;gnomAD_genome_ALL=0.6564;gnomAD_genome_AFR=0.7485;gnomAD_genome_AMR=0.7351;gnomAD_genome_ASJ=0.6656;gnomAD_genome_EAS=0.8418;gnomAD_genome_FIN=0.5572;gnomAD_genome_NFE=0.6020;gnomAD_genome_OTH=0.6472;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1016.05,0,-870.89:1117:501:589:16137:14524 1/1:-3514.5,-449.088,0:1569:7:1526:42533:160 . 1/1:-2166.91,-280.027,0:1013:7:979:26239:190 1/1:-3056.94,-372.413,0:1399:19:1342:37316:474 0/1:-1571.4,0,-1662.1:1864:885:917:25773:26661 1/1:-2610.07,-331.014,0:1196:7:1145:31624:182 0/1:-1211.61,0,-1359.62:1481:710:715:19746:21596 0/1:-991.834,0,-1153.18:1193:593:565:15883:17905 1/1:-3414.45,-419.824,0:1549:15:1488:41448:386 0/1:-1123.55,0,-1061.89:1286:590:656:17814:17339 0/1:-1397.42,0,-1163.72:1440:631:766:21537:18945 0/1:-1246.65,0,-1100.98:1306:583:685:19463:17691 0/1:-984.575,0,-928.816:1141:511:585:16042:15543 . 0/1:-1818.6,0,-1903.94:2075:977:1040:29051:29888 1/1:-2333.36,-304.332,0:1090:7:1051:28661:160 . 0/1:-996.99,0,-1356.55:1326:679:611:16601:20970 0/1:-905.686,0,-903.489:1062:486:539:14871:14726 1/1:-2538.8,-307.457,0:1138:14:1094:30639:373 1/1:-3816.07,-470.631,0:1724:17:1666:46187:448 0/1:-644.847,0,-724.299:819:389:400:10773:12054 0/1:-1560.03,0,-1606.42:1742:820:871:24669:25375 . 1/1:-2341.75,-295.965,0:1082:9:1037:28568:236 0/1:-1320.95,0,-1302.11:1468:680:751:20772:20758 1/1:-3743.58,-468.623,0:1663:10:1616:45188:250 1/1:-2164.59,-284.427,0:1030:9:996:26665:276 . 0/1:-980.492,0,-1416.53:1330:714:574:16123:21870 0/1:-1321.38,0,-1686.16:1718:866:794:21977:26329 0/1:-1122.29,0,-1449.99:1437:752:646:18181:22510 1/1:-2180.28,-261.745,0:966:9:930:26346:249 1/1:-3490.5,-440.274,0:1526:6:1487:41696:138 . 0/1:-875.063,0,-736.208:905:407:470:13508:12226 . 0/1:-1091.95,0,-1148.11:1286:602:644:17770:18498 1/1:-2087.97,-262.589,0:930:5:895:24829:110 1/1:-4165.99,-506.055,0:1852:16:1789:50091:436 . 1/1:-3449.77,-440.407,0:1505:0:1463:41363:0 0/1:-1320.07,0,-1146.52:1353:599:726:20525:18183 1/1:-3627.55,-453.45,0:1642:12:1584:44003:327 1/1:-3232.14,-416.109,0:1457:5:1409:38975:127 1/1:-3055.94,-394.239,0:1352:2:1316:36541:28 0/1:-715.784,0,-645.416:775:342:412:11281:10307 1/1:-2661.79,-329.641,0:1167:7:1135:31561:160 0/1:-1426.75,0,-1494.64:1619:769:825:22780:23750 1/1:-3233.6,-410.154,0:1433:4:1384:38573:118 0/1:-1025.46,0,-1013.66:1233:560:637:17159:16941 1/1:-4036.19,-493.706,0:1758:14:1710:48566:346 . 1/1:-2289.61,-298.962,0:1070:6:1026:27956:168 0/1:-1044.25,0,-1130.41:1194:571:591:16609:17645 1/1:-3289.9,-410.132,0:1457:6:1403:39400:159 1/1:-1852.18,-242.892,0:877:5:840:22832:150 1/1:-2383.5,-292.703,0:1090:11:1045:28675:313 1/1:-3211.05,-397.171,0:1394:7:1354:38308:142 0/1:-787.742,0,-684.364:899:400:475:12783:11668 0/1:-1554.34,0,-1801.39:1876:920:908:25134:28361 1/1:-2981.8,-367.69,0:1268:2:1234:35109:50 0/1:-836.829,0,-741.761:924:414:486:13377:12330 1/1:-3819.59,-462.333,0:1712:18:1648:46239:484 1/1:-3327.39,-418.411,0:1472:7:1424:39882:156 1/1:-1681.85,-219.491,0:802:8:772:21092:234 1/1:-3456.37,-418.077,0:1524:13:1473:41494:389 1/1:-2720.62,-345.731,0:1206:5:1176:32704:110 0/1:-1358.08,0,-1290.38:1528:696:779:21442:20869 1/1:-3425.85,-431.658,0:1503:4:1468:41256:140 . . . 1/1:-2897.44,-373.222,0:1266:1:1243:34792:14 1/1:-3655.61,-467.427,0:1652:10:1598:44015:213 0/1:-1236.3,0,-1359.28:1501:733:723:20049:21557 0/1:-1412.07,0,-1376.29:1553:728:780:22270:22229 1/1:-2086.76,-258.912,0:911:5:881:24961:141 1/1:-1869.8,-225.076,0:826:8:805:22545:222 1/1:-3184.04,-412.109,0:1487:9:1418:38441:214 1/1:-3330.77,-417.44,0:1509:10:1454:40118:293 1/1:-3403.83,-420.619,0:1572:18:1514:41437:496 0/1:-1214.71,0,-1165.35:1337:631:671:19250:19068 1/1:-2549.31,-324.141,0:1155:6:1121:30842:172 1/1:-2991.69,-376.446,0:1355:11:1302:36443:255 0/1:-639.722,0,-934.996:878:462:380:10783:14284 0/1:-1249.86,0,-1224.85:1431:654:740:20054:19633 1/1:-1873,-229.341,0:840:7:814:22742:200 0/1:-1183.77,0,-1257.25:1395:658:700:19294:19960 0/1:-1795.29,0,-1582.57:1953:857:1039:28635:25862 0/1:-1048.95,0,-1152.33:1263:618:600:16849:18327 0/1:-1411.79,0,-1626.67:1695:836:802:22590:25472 . 1/1:-3587.14,-446.551,0:1622:14:1573:42737:378 . . 1/1:-4285.47,-452.878,0:1639:14:1609:49620:404:14,1609 0/1:-1650.89,0,-1967.21:1765:916:818:25041:28965:916,818 0/1:-854.787,0,-1036.54:920:475:432:13186:15196:475,432 1/1:-3843.69,-428.339,0:1504:6:1466:44601:168:6,1466 0/1:-1906.49,0,-1795.52:1758:829:908:28205:26831:829,908 0/1:-1627.64,0,-1494:1512:705:785:24018:22463:705,785 . 1/1:-3978.52,-433.615,0:1529:7:1499:46289:235:7,1499 1/1:-3974.19,-431.778,0:1578:13:1526:46403:380:13,1526 0/1:-1822.96,0,-1654.51:1669:780:864:26953:24917:780,864 . 0/1:-1403.8,0,-1416.48:1370:663:687:20836:21272:663,687 1/1:-3490.28,-378.656,0:1373:10:1335:40875:304:10,1335 1/1:-4469.84,-503.802,0:1722:3:1687:51735:55:3,1687 0/1:-1560.63,0,-1660.48:1542:765:762:23370:24535:765,762 0/1:-1720.39,0,-1728.76:1670:818:833:25734:25857:818,833 1/1:-3690.47,-418.7,0:1421:1:1397:42741:36:1,1397 1/1:-3757.45,-408.564,0:1418:6:1391:43375:163:6,1391 0/1:-1885.1,0,-1715.54:1726:806:896:27748:25848:806,896 chr6 112496511 . C A 8156.61 . AB=0.55481;ABP=26.3378;AC=5;AF=0.5;AN=10;AO=496;CIGAR=1X;DP=4339;DPB=894;DPRA=0;EPP=7.49334;EPPR=3.81207;GTI=0;LEN=1;MEANALT=3;MQM=36.3609;MQMR=37.6231;NS=1;NUMALT=1;ODDS=1554.94;PAIRED=0.885081;PAIREDR=0.964103;PAO=0;PQA=0;PQR=0;PRO=0;QA=14593;QR=11937;RO=390;RPL=126;RPP=263.657;RPPR=160.158;RPR=370;RUN=1;SAF=332;SAP=126.574;SAR=164;SF=0,1;SRF=268;SRP=121.695;SRR=122;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0842;esp6500siv2_ea=0.0110;esp6500siv2_all=0.0842;esp6500siv2_ea=0.0110;1000g2015aug_all=0.08127;avsnp147=rs6917763;Kaviar_AF=0.0308728;Kaviar_AC=4773;Kaviar_AN=154602;ExAC_ALL=0.0315;ExAC_AFR=0.2322;ExAC_AMR=0.0162;ExAC_EAS=0.0003;ExAC_FIN=0.0080;ExAC_NFE=0.0145;ExAC_OTH=0.0308;ExAC_SAS=0.0103;CLNALLELEID=53510;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6109;dpsi_zscore=-1.762;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0267;gnomAD_exome_AFR=0.2385;gnomAD_exome_AMR=0.0183;gnomAD_exome_ASJ=0.0238;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0071;gnomAD_exome_NFE=0.0128;gnomAD_exome_OTH=0.0250;gnomAD_exome_SAS=0.0108;gnomAD_genome_ALL=0.0699;gnomAD_genome_AFR=0.2216;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0112;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-926.992,0,-714.218:894:390:496:14593:11937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-783.062,0,-785.656:879:432:436:12924:12979 0/1:-915.565,0,-806.458:969:440:522:15080:13312 . . . . . . 0/1:-766.7,0,-751.708:824:398:421:12423:12440 . . . . . . . . . . . . . . . 0/1:-931.536,0,-691.496:773:343:428:13654:10754:343,428 . . . . . . . . . . chr6 112496690 . G C 3930.81 . AB=0.492218;ABP=3.28068;AC=1;AF=0.5;AN=2;AO=253;CIGAR=1X;DP=514;DPB=514;DPRA=0;EPP=12.3571;EPPR=5.346;GTI=0;LEN=1;MEANALT=3;MQM=35.0632;MQMR=36.3739;NS=1;NUMALT=1;ODDS=905.101;PAIRED=0.988142;PAIREDR=0.957983;PAO=0;PQA=0;PQR=0;PRO=0;QA=7190;QR=7203;RO=238;RPL=134;RPP=4.94145;RPPR=45.1989;RPR=119;RUN=1;SAF=46;SAP=225.488;SAR=207;SF=0;SRF=56;SRP=147.86;SRR=182;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0360;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0360;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0315495;avsnp147=rs73538515;Kaviar_AF=0.009353;Kaviar_AC=1446;Kaviar_AN=154602;ExAC_ALL=0.0096;ExAC_AFR=0.1053;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0100;ExAC_SAS=0.0001;CLNALLELEID=53506;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.1797;dpsi_zscore=-1.955;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0078;gnomAD_exome_AFR=0.1099;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0289;gnomAD_genome_AFR=0.1008;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-425.601,0,-439.651:514:238:253:7190:7203 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112499338 . T C 8762.36 . AB=0.460818;ABP=18.6656;AC=1;AF=0.5;AN=2;AO=541;CIGAR=1X;DP=1174;DPB=1174;DPRA=0;EPP=54.2627;EPPR=72.5542;GTI=0;LEN=1;MEANALT=3;MQM=39.8835;MQMR=40.4314;NS=1;NUMALT=1;ODDS=2017.61;PAIRED=0.955638;PAIREDR=0.96732;PAO=0;PQA=0;PQR=0;PRO=0;QA=14531;QR=18073;RO=612;RPL=312;RPP=30.6615;RPPR=35.7101;RPR=229;RUN=1;SAF=368;SAP=155.636;SAR=173;SF=0;SRF=396;SRP=117.971;SRR=216;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon10:c.A1174G:p.R392G,LAMA4:NM_001105207:exon10:c.A1153G:p.R385G,LAMA4:NM_002290:exon10:c.A1153G:p.R385G;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.535;SIFT_pred=T;Polyphen2_HDIV_score=0.312;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.301;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.628;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=2.83;FATHMM_pred=T;PROVEAN_score=-1.97;PROVEAN_pred=N;VEST3_score=0.669;CADD_raw=3.552;CADD_phred=23.1;DANN_score=0.989;fathmm-MKL_coding_score=0.754;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.008;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=2.53;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=10.678;GDI_full_10282015=.;dpsi_max_tissue=-2.0027;dpsi_zscore=-1.902;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-908.714,0,-1212.85:1174:612:541:14531:18073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112506519 . C T 11532.20 . AB=0.486017;ABP=5.25727;AC=1;AF=0.5;AN=2;AO=643;CIGAR=1X;DP=1323;DPB=1323;DPRA=0;EPP=180.109;EPPR=209.628;GTI=0;LEN=1;MEANALT=3;MQM=39.1602;MQMR=39.7783;NS=1;NUMALT=1;ODDS=2605.43;PAIRED=0.987558;PAIREDR=0.985849;PAO=0;PQA=0;PQR=0;PRO=0;QA=18260;QR=17940;RO=636;RPL=296;RPP=11.7941;RPPR=6.50651;RPR=347;RUN=1;SAF=337;SAP=6.25569;SAR=306;SF=0;SRF=343;SRP=11.546;SRR=293;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon9:c.G997A:p.A333T,LAMA4:NM_001105207:exon9:c.G976A:p.A326T,LAMA4:NM_002290:exon9:c.G976A:p.A326T;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs576711704;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=9.885e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=231363;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.474;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.380;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=2.92;FATHMM_pred=T;PROVEAN_score=-0.14;PROVEAN_pred=N;VEST3_score=0.345;CADD_raw=2.493;CADD_phred=19.42;DANN_score=0.903;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.057;MetaSVM_pred=T;MetaLR_score=0.020;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=-0.216;phyloP7way_vertebrate=-0.379;phyloP20way_mammalian=-0.303;phastCons7way_vertebrate=0.916;phastCons20way_mammalian=0.929;SiPhy_29way_logOdds=5.194;GDI_full_10282015=.;dpsi_max_tissue=-0.8785;dpsi_zscore=-1.397;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0023;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.376e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-1180.66,0,-1162.06:1323:636:643:18260:17940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112506583 . G T 19445.50 . AB=0.523364;ABP=8.08383;AC=181;AF=0.5;AN=220;AO=560;CIGAR=1X;DP=117461;DPB=1070;DPRA=0;EPP=38.7465;EPPR=21.396;GTI=0;LEN=1;MEANALT=3;MQM=39.475;MQMR=39.5972;NS=1;NUMALT=1;ODDS=2092.17;PAIRED=0.991071;PAIREDR=0.971944;PAO=0;PQA=0;PQR=0;PRO=0;QA=16143;QR=14816;RO=499;RPL=383;RPP=167.561;RPPR=151.945;RPR=177;RUN=1;SAF=157;SAP=237.669;SAR=403;SF=0,1;SRF=138;SRP=219.413;SRR=361;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.7904;esp6500siv2_ea=0.7115;esp6500siv2_all=0.7904;esp6500siv2_ea=0.7115;1000g2015aug_all=0.900559;avsnp147=rs6908219;Kaviar_AF=0.769654;Kaviar_AC=118990;Kaviar_AN=154602;ExAC_ALL=0.7904;ExAC_AFR=0.9518;ExAC_AMR=0.9080;ExAC_EAS=0.9904;ExAC_FIN=0.6475;ExAC_NFE=0.7137;ExAC_OTH=0.7731;ExAC_SAS=0.8696;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6120;dpsi_zscore=1.239;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7903;gnomAD_exome_AFR=0.9568;gnomAD_exome_AMR=0.9024;gnomAD_exome_ASJ=0.8131;gnomAD_exome_EAS=0.9904;gnomAD_exome_FIN=0.6486;gnomAD_exome_NFE=0.7083;gnomAD_exome_OTH=0.7854;gnomAD_exome_SAS=0.8650;gnomAD_genome_ALL=0.7901;gnomAD_genome_AFR=0.9538;gnomAD_genome_AMR=0.8878;gnomAD_genome_ASJ=0.8212;gnomAD_genome_EAS=0.9926;gnomAD_genome_FIN=0.6493;gnomAD_genome_NFE=0.7025;gnomAD_genome_OTH=0.7454;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1067,0,-956.075:1070:499:560:16143:14816 1/1:-3032.81,-347.339,0:1285:23:1237:35539:418 1/1:-2593.26,-285.325,0:1070:19:1033:30524:363 1/1:-1883.74,-207.39,0:777:12:751:22175:263 1/1:-2553.77,-286.89,0:1103:23:1061:30325:492 0/1:-1215.36,0,-1214.88:1309:639:656:18615:18728 1/1:-2338.56,-270.287,0:1001:15:963:27599:297 0/1:-1119.21,0,-970.81:1157:541:598:17101:15350 1/1:-2209.25,-240.428,0:954:24:914:26294:541 1/1:-2896.02,-317.478,0:1242:29:1193:34523:617 0/1:-980.316,0,-745.268:968:427:524:14904:12194 0/1:-1134.6,0,-959.994:1101:510:574:16813:14878 0/1:-1013.58,0,-930.423:1061:501:544:15429:14550 0/1:-788.049,0,-779.507:860:417:435:12357:12128 . 1/1:-3636.94,-410.619,0:1497:24:1444:42656:381 1/1:-1982.19,-219.771,0:865:19:833:23871:440 0/1:-2061.79,0,-1790.89:2062:955:1083:31019:27877 1/1:-2516.42,-289.301,0:1049:13:1013:29725:261 1/1:-1985.73,-229.815,0:829:10:803:23294:178 1/1:-1936.91,-209.392,0:812:15:781:22945:354 1/1:-3238.94,-362.714,0:1332:20:1293:37846:396 0/1:-625.878,0,-636.185:690:341:342:9819:9941 1/1:-3093.03,-337.405,0:1307:30:1258:36543:612 1/1:-2952.01,-330.263,0:1232:20:1189:34815:400 1/1:-2011.1,-238.334,0:879:15:848:23876:259 1/1:-2452.83,-266.275,0:1038:22:995:28930:486 1/1:-2879.29,-326.902,0:1181:18:1145:33642:295 1/1:-2221.9,-261.857,0:942:14:917:26244:236 0/1:-710.453,0,-754.725:774:384:380:10945:11446 1/1:-2240.37,-250.929,0:944:14:903:26418:282 0/1:-1384.76,0,-1298.67:1412:675:722:21013:20030 0/1:-893.674,0,-1095.24:1075:557:505:14254:16393 1/1:-1235.39,-139.743,0:517:8:501:14534:152 1/1:-2967.84,-341.312,0:1205:15:1174:34537:232 0/1:-1286.84,0,-1222.9:1333:634:680:19650:18674 0/1:-628.093,0,-599.082:671:321:342:9734:9257 0/1:-1020.25,0,-1186.67:1172:606:549:15721:17803 0/1:-1068.1,0,-921.495:1080:502:562:16114:14578 1/1:-1346.78,-159.005,0:574:7:554:15896:130 1/1:-3285.21,-387.609,0:1375:10:1341:38710:227 0/1:-874.412,0,-959.058:955:488:454:13466:14401 1/1:-2667.62,-306.506,0:1096:13:1064:31061:214 0/1:-1011.43,0,-962.868:1027:498:517:15274:14685 1/1:-3419.09,-372.563,0:1405:27:1361:40116:564 1/1:-2717.38,-306.237,0:1126:18:1088:31981:321 1/1:-2644.27,-297.236,0:1110:23:1068:31162:349 0/1:-624.364,0,-594.719:666:319:343:9648:9175 1/1:-2236.93,-251.115,0:927:13:887:26240:264 1/1:-3174.25,-362.029,0:1297:15:1269:37101:295 1/1:-2843.06,-318.27,0:1184:18:1147:33377:369 0/1:-891.107,0,-952.859:1028:504:505:14084:14698 1/1:-3500.34,-390.662,0:1423:16:1393:40973:388 0/1:-1273.35,0,-1094.27:1326:620:683:19371:17598 1/1:-2052.83,-235.245,0:892:19:852:24310:324 0/1:-851.441,0,-763.93:859:405:444:12944:11859 1/1:-2868.21,-326.75,0:1176:14:1141:33599:247 1/1:-1426.83,-168.775,0:611:8:591:16797:156 1/1:-1864.96,-209.471,0:787:14:755:21974:291 1/1:-2688.23,-303.974,0:1101:15:1068:31353:255 0/1:-717.383,0,-641.695:747:343:392:11001:10023 0/1:-1322.94,0,-1136.51:1341:611:716:20214:17863 1/1:-2235.34,-254.972,0:919:14:892:26109:234 1/1:-1755.08,-202.194,0:740:10:710:20881:206 1/1:-3225.77,-357.26,0:1363:26:1315:37927:579 1/1:-2708.32,-305.203,0:1128:19:1092:31718:335 1/1:-1578.37,-186.693,0:696:13:673:18906:224 1/1:-2659.49,-297.892,0:1094:17:1061:31393:322 1/1:-1904.06,-221.137,0:803:15:772:22371:223 0/1:-1026.53,0,-952.245:1079:507:560:15666:14861 1/1:-2562.3,-294.728,0:1059:13:1031:30241:235 . 1/1:-2984.1,-325.195,0:1228:18:1182:34955:422 . 1/1:-2397.45,-273.109,0:956:7:938:27965:133 1/1:-2912.77,-341.227,0:1240:18:1200:34387:324 0/1:-1188.69,0,-1233.36:1283:626:644:18290:18742 0/1:-1285.74,0,-1055.61:1235:563:656:19277:16597 1/1:-1810.1,-207.267,0:755:10:734:21249:200 1/1:-1822.34,-201.303,0:774:15:737:21423:281 1/1:-3022.85,-337.495,0:1243:17:1204:35434:368 1/1:-3069.87,-344.151,0:1258:17:1215:36071:307 1/1:-2948.54,-328.27,0:1242:28:1190:34709:478 0/1:-1118.69,0,-964.225:1112:518:579:16812:14888 1/1:-2305.63,-261.344,0:988:18:947:27174:341 1/1:-2234.91,-260.502,0:938:12:911:26289:207 1/1:-2053.16,-228.67,0:852:13:826:24159:295 1/1:-2719.9,-312.877,0:1120:13:1095:32023:280 1/1:-1709.91,-194.757,0:691:6:676:19797:119 1/1:-2685.79,-297.743,0:1121:24:1073:31606:420 1/1:-3526.62,-373.328,0:1461:33:1410:42017:737 1/1:-2170.06,-241.784,0:909:18:874:25658:326 0/1:-1214.98,0,-1220.18:1293:628:654:18616:18694 0/1:-1001.67,0,-1006.45:1098:529:552:15727:15466 1/1:-2851.43,-320.797,0:1215:25:1165:33671:467 . . 1/1:-3052.03,-310.522,0:1191:22:1161:35678:514:22,1161 0/1:-1342.05,0,-1270.87:1294:625:663:19843:19078:625,663 0/1:-686.948,0,-649.526:676:325:347:10274:9893:325,347 1/1:-2497.63,-278.346,0:987:13:967:29021:202:13,967 0/1:-1402.66,0,-1270.85:1336:634:691:20786:19195:634,691 1/1:-2709.66,-292.418,0:1068:14:1045:31862:296:14,1045 0/1:-1281.96,0,-1174.01:1215:577:632:19096:17838:577,632 1/1:-2695.94,-299.926,0:1040:7:1025:31244:127:7,1025 1/1:-2908.84,-320.599,0:1142:14:1118:33644:236:14,1118 0/1:-1201.52,0,-1129.33:1182:568:602:17917:17142:568,602 . 0/1:-885.51,0,-889.33:912:452:455:13395:13495:452,455 1/1:-2698.83,-299.483,0:1046:8:1032:31395:155:8,1032 1/1:-2914.09,-300.099,0:1138:22:1107:34085:474:22,1107 0/1:-983.944,0,-1011.15:1006:499:499:14876:15105:499,499 0/1:-1269.74,0,-1113.52:1207:570:628:18895:17172:570,628 1/1:-2604.36,-281.515,0:1019:14:995:30312:265:14,995 1/1:-2824.71,-310.536,0:1098:9:1078:32800:188:9,1078 0/1:-1151.98,0,-1121.51:1122:551:563:17108:16859:551,563 chr6 112508694 . A G 7159.72 . AB=0.50582;ABP=3.28834;AC=4;AF=0.5;AN=8;AO=478;CIGAR=1X;DP=3580;DPB=945;DPRA=0;EPP=12.6229;EPPR=13.7414;GTI=0;LEN=1;MEANALT=3;MQM=35.6632;MQMR=36.3758;NS=1;NUMALT=1;ODDS=1835.83;PAIRED=0.939331;PAIREDR=0.935123;PAO=0;PQA=0;PQR=0;PRO=0;QA=14100;QR=13484;RO=447;RPL=249;RPP=4.82743;RPPR=8.9612;RPR=229;RUN=1;SAF=247;SAP=4.17326;SAR=231;SF=0;SRF=213;SRP=5.15263;SRR=234;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.T924C:p.H308H,LAMA4:NM_001105207:exon8:c.T903C:p.H301H,LAMA4:NM_002290:exon8:c.T903C:p.H301H;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0036;1000g2015aug_all=0.000199681;avsnp147=rs143580603;Kaviar_AF=0.0026132;Kaviar_AC=404;Kaviar_AN=154602;ExAC_ALL=0.0026;ExAC_AFR=0.0006;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0038;ExAC_OTH=0.0022;ExAC_SAS=0.0012;CLNALLELEID=53580;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2971;dpsi_zscore=0.887;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-851.998,0,-807.249:945:447:478:14100:13484 . . . . . . . . . . . . . . 0/1:-653.638,0,-882.87:858:440:394:11293:13538 . . . . . . . 0/1:-937.875,0,-1137.59:1172:601:540:16010:18269 . . . . . . . . . . . . . 0/1:-458.91,0,-567.101:605:305:284:8163:9304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112508755 . G C 5023.79 . AB=0.483146;ABP=4.54741;AC=1;AF=0.5;AN=2;AO=301;CIGAR=1X;DP=623;DPB=623;DPRA=0;EPP=6.82661;EPPR=23.8633;GTI=0;LEN=1;MEANALT=3;MQM=34.402;MQMR=34.3429;NS=1;NUMALT=1;ODDS=1156.77;PAIRED=0.960133;PAIREDR=0.949206;PAO=0;PQA=0;PQR=0;PRO=0;QA=8868;QR=9578;RO=315;RPL=140;RPP=6.19176;RPPR=4.17531;RPR=161;RUN=1;SAF=182;SAP=31.6434;SAR=119;SF=0;SRF=170;SRP=7.31878;SRR=145;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.C863G:p.A288G,LAMA4:NM_001105207:exon8:c.C842G:p.A281G,LAMA4:NM_002290:exon8:c.C842G:p.A281G;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000399361;avsnp147=rs150084275;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0.0003;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0.0015;CLNALLELEID=53577;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.731;SIFT_pred=T;Polyphen2_HDIV_score=0.66;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.976;MutationTaster_pred=N;MutationAssessor_score=-0.235;MutationAssessor_pred=N;FATHMM_score=2.61;FATHMM_pred=T;PROVEAN_score=0.67;PROVEAN_pred=N;VEST3_score=0.301;CADD_raw=1.056;CADD_phred=10.98;DANN_score=0.968;fathmm-MKL_coding_score=0.580;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.080;MetaSVM_pred=T;MetaLR_score=0.044;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.963;phastCons20way_mammalian=0.523;SiPhy_29way_logOdds=10.388;GDI_full_10282015=.;dpsi_max_tissue=-0.7390;dpsi_zscore=-1.301;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.817e-05;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-513.527,0,-566.409:623:315:301:8868:9578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112508769 . TG GT 22058.46 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=860;CIGAR=2X;DP=114433;DPB=920;DPRA=0;EPP=41.8342;EPPR=5.18177;GTI=0;LEN=2;MEANALT=9;MQM=36.6651;MQMR=40;NS=1;NUMALT=1;ODDS=1191.71;PAIRED=0.943023;PAIREDR=1;PAO=8;PQA=256;PQR=0;PRO=0;QA=23275;QR=28;RO=1;RPL=452;RPP=7.89864;RPPR=5.18177;RPR=408;RUN=1;SAF=502;SAP=55.368;SAR=358;SF=0,1;SRF=1;SRP=5.18177;SRR=0;TYPE=mnp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=LAMA4:NM_001105206:exon8:c.848_849AC,LAMA4:NM_001105207:exon8:c.827_828AC,LAMA4:NM_002290:exon8:c.827_828AC;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs71543223;Kaviar_AF=0.037354;Kaviar_AC=5775;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=178204;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1933.46,-259.097,0:916:1:860:23275:28 1/1:-2498.3,-329.967,0:1176:3:1101:30082:77 1/1:-2000.09,-261.489,0:916:1:866:24059:23 1/1:-1339.88,-177.608,0:628:0:584:15877:0 1/1:-2174.24,-297.147,0:1050:2:985:25973:37 1/1:-2629.36,-346.394,0:1216:2:1143:31116:37 1/1:-1973.72,-266.565,0:966:4:897:24156:56 1/1:-2520.69,-327.59,0:1158:2:1092:30077:66 1/1:-1791.48,-233.9,0:810:0:771:21371:0 1/1:-2240.44,-295.096,0:1047:4:982:26725:78 1/1:-2056.99,-272.139,0:1007:4:916:24769:65 1/1:-2104.56,-267.496,0:952:3:895:25136:52 1/1:-1834.49,-243.861,0:864:2:809:21700:31 1/1:-1689.67,-224.979,0:794:2:741:20096:34 1/1:-1697.02,-218.475,0:773:2:731:20298:28 1/1:-2908.34,-385.845,0:1360:3:1281:34416:59 1/1:-1581.81,-214.305,0:761:3:713:19456:45 1/1:-4237.02,-546.242,0:1935:6:1810:49849:108 1/1:-2063.39,-267.86,0:950:2:889:24489:37 1/1:-1578.22,-206.215,0:725:1:682:19071:20 1/1:-1596.76,-208.75,0:738:1:693:19034:20 1/1:-2631.46,-350.103,0:1232:1:1164:31897:34 1/1:-1153.65,-160.745,0:581:2:535:14401:28 1/1:-2559.35,-334.062,0:1183:6:1119:30696:115 1/1:-2395.08,-318.679,0:1140:1:1052:28882:26 1/1:-1549.04,-212.421,0:776:3:715:19346:69 1/1:-2016.4,-269.164,0:940:4:883:23758:62 1/1:-2286.83,-291.345,0:1046:8:986:27017:171 1/1:-1603.95,-226.065,0:817:1:746:19989:14 1/1:-1574.28,-205.591,0:723:2:682:18930:31 1/1:-1870.73,-249.198,0:876:1:821:22514:14 1/1:-2784.01,-358.757,0:1269:4:1192:32951:91 1/1:-2242.95,-298.355,0:1025:1:972:26402:34 1/1:-1005.56,-134.861,0:475:0:446:12198:0 1/1:-2414.81,-318.196,0:1095:2:1035:28290:31 1/1:-2428.13,-321.746,0:1147:1:1063:28819:14 1/1:-1292.88,-164.262,0:602:3:549:15200:48 1/1:-2389.75,-314.138,0:1108:1:1040:28252:20 1/1:-2046.64,-278.743,0:983:1:927:25014:14 1/1:-1161.92,-149.913,0:529:0:495:13977:0 1/1:-2557.65,-332.337,0:1149:0:1088:30279:0 1/1:-1855.31,-251.059,0:874:0:823:21903:0 1/1:-2236.91,-294.353,0:1041:1:976:26754:14 1/1:-1861.64,-246.188,0:862:1:804:22078:14 1/1:-2763.06,-362.05,0:1289:3:1199:32668:51 1/1:-2154.1,-284.529,0:987:2:936:25505:48 1/1:-2276.85,-298.62,0:1054:2:999:27630:28 1/1:-1166.27,-151.595,0:559:4:519:14049:74 1/1:-1657.49,-215.749,0:755:2:716:19678:38 1/1:-2637.01,-349.54,0:1223:3:1155:31545:57 1/1:-2176.37,-291.397,0:1021:0:963:26096:0 1/1:-2032.19,-282.305,0:1001:2:936:24974:40 1/1:-2774.74,-356.604,0:1245:2:1173:32531:31 1/1:-2267.84,-307.653,0:1096:0:1010:26949:0 1/1:-1569.17,-220.814,0:809:5:738:19098:95 1/1:-1708.59,-223.026,0:781:1:742:20509:23 1/1:-2331.53,-301.017,0:1062:2:992:27186:37 1/1:-1184.57,-162.255,0:570:0:532:14327:0 1/1:-1586.63,-208.259,0:728:1:687:18948:14 1/1:-2123.36,-282.902,0:987:2:930:25253:28 1/1:-1342.22,-181.476,0:661:2:600:16297:34 1/1:-2585.49,-347.954,0:1220:1:1138:30610:23 1/1:-1904.94,-248.637,0:882:2:835:23001:37 1/1:-1254.1,-175.728,0:635:2:588:15515:28 1/1:-2822.48,-361.441,0:1259:5:1206:33401:76 1/1:-2490.25,-317.158,0:1130:4:1057:30029:70 1/1:-1373.11,-185.133,0:658:0:613:16787:0 1/1:-2307.01,-310.755,0:1103:2:1030:27414:37 1/1:-1724.14,-223.76,0:793:4:750:20419:94 1/1:-2080.96,-280.195,0:1016:3:945:25363:65 1/1:-1997.97,-262.825,0:940:6:881:23719:113 1/1:-2921.69,-371.456,0:1312:2:1216:34235:31 1/1:-2686.68,-365.45,0:1269:0:1200:31712:0 1/1:-1170.79,-169.418,0:614:2:567:14971:28 1/1:-1858.7,-234.64,0:828:3:775:21747:42 1/1:-2436.55,-323.342,0:1173:6:1093:29601:91 1/1:-2258.62,-298.794,0:1057:5:992:26975:94 1/1:-2527.88,-341.669,0:1177:0:1121:30322:0 1/1:-1515.95,-204.064,0:724:3:669:18001:45 1/1:-1411.2,-186.109,0:666:2:618:17006:43 1/1:-2158.65,-292.737,0:1031:1:971:26271:20 1/1:-2470.55,-328.576,0:1172:3:1093:29878:53 1/1:-2562.8,-345.204,0:1215:1:1131:30599:17 1/1:-2220.33,-287.785,0:1008:0:944:26169:0 1/1:-1800.39,-240.211,0:856:1:796:21724:14 1/1:-1963.33,-260.564,0:919:4:863:23370:65 1/1:-1609.75,-211.933,0:747:1:703:19052:20 1/1:-2332.8,-302.469,0:1089:5:1021:28286:121 1/1:-1150.13,-155.071,0:556:1:515:13648:23 1/1:-1931.83,-252.797,0:913:4:852:23276:89 1/1:-3122.62,-407.294,0:1435:0:1344:36983:0 1/1:-1789.84,-239.263,0:855:3:794:21552:57 1/1:-2537.6,-335.343,0:1189:4:1102:30006:62 1/1:-2137.65,-280.236,0:1008:1:933:25412:17 1/1:-2378.58,-311.771,0:1122:2:1044:28658:46 . 1/1:-3036.58,-337.118,0:1144:1:1105:34643:23:1,1105 1/1:-3367.04,-374.368,0:1266:1:1228:38442:36:1,1228 1/1:-3686.72,-406.993,0:1395:0:1340:42231:0:0,1340 1/1:-1754.09,-199.282,0:681:0:662:20471:0:0,662 1/1:-2739.6,-302.482,0:1040:1:1000:31543:14:1,1000 1/1:-3656.34,-405.231,0:1394:1:1338:42085:23:1,1338 1/1:-2792.54,-308.255,0:1061:0:1020:32396:0:0,1020 1/1:-3577.39,-398.263,0:1355:0:1304:41115:0:0,1304 1/1:-2795.58,-309.495,0:1056:1:1010:32007:29:1,1010 1/1:-2961.86,-331.434,0:1130:0:1095:34402:0:0,1095 1/1:-3429.96,-378.797,0:1311:2:1267:39940:46:2,1267 1/1:-2491.06,-275.715,0:953:2:919:28940:34:2,919 1/1:-2787.2,-312.816,0:1066:1:1030:32225:17:1,1030 1/1:-2921.36,-324.51,0:1109:0:1073:33733:0:0,1073 1/1:-2903.88,-323.032,0:1114:2:1068:33380:48:2,1068 1/1:-2899.8,-326.015,0:1121:0:1074:33472:0:0,1074 1/1:-3558.18,-391.007,0:1339:2:1295:40790:48:2,1295 1/1:-2738.15,-303.739,0:1035:0:1002:31536:0:0,1002 1/1:-3074.57,-338.057,0:1150:0:1116:35488:0:0,1116 1/1:-2906.23,-322.953,0:1099:1:1063:33437:14:1,1063 chr6 112512903 . CCG CCA 1257.83 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=47;CIGAR=2M1X;DP=50;DPB=52;DPRA=0;EPP=3.0565;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=41.0426;MQMR=42;NS=1;NUMALT=1;ODDS=67.6902;PAIRED=1;PAIREDR=1;PAO=1.5;PQA=50;PQR=50;PRO=1.5;QA=1509;QR=28;RO=1;RPL=32;RPP=16.3625;RPPR=5.18177;RPR=15;RUN=1;SAF=26;SAP=4.16534;SAR=21;SF=1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=LAMA4:NM_001105206:exon6:c.651delC:p.T217fs,LAMA4:NM_001105207:exon6:c.651delC:p.T217fs,LAMA4:NM_002290:exon6:c.651delC:p.T217fs;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-129.143,-13.7262,0:50:1:47:1509:28:1,47 . . . . . . . . . . chr6 112512905 . G A,T 4198.07 . AB=0.398876;ABP=66.2514;AC=22,0;AF=0.5;AN=44;AO=284;CIGAR=1X;DP=9545;DPB=712;DPRA=0;EPP=17.813;EPPR=15.0369;GTI=0;LEN=1;MEANALT=3;MQM=38.8099;MQMR=39.4423;NS=1;NUMALT=1;ODDS=1172.88;PAIRED=0.954225;PAIREDR=0.915865;PAO=0;PQA=0;PQR=0;PRO=0;QA=8663;QR=13024;RO=416;RPL=141;RPP=3.04088;RPPR=17.1249;RPR=143;RUN=1;SAF=141;SAP=3.04088;SAR=143;SF=0,1;SRF=200;SRP=4.34659;SRR=216;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon6:c.C651T:p.T217T,LAMA4:NM_001105207:exon6:c.C651T:p.T217T,LAMA4:NM_002290:exon6:c.C651T:p.T217T;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.2575;esp6500siv2_ea=0.1219;esp6500siv2_all=0.2575;esp6500siv2_ea=0.1219;1000g2015aug_all=0.316893;avsnp147=rs2072021;Kaviar_AF=0.191201;Kaviar_AC=29560;Kaviar_AN=154602;ExAC_ALL=0.1982;ExAC_AFR=0.5467;ExAC_AMR=0.1334;ExAC_EAS=0.2833;ExAC_FIN=0.1913;ExAC_NFE=0.1338;ExAC_OTH=0.1932;ExAC_SAS=0.2423;CLNALLELEID=53576;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8966;dpsi_zscore=-1.866;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1884;gnomAD_exome_AFR=0.5570;gnomAD_exome_AMR=0.1324;gnomAD_exome_ASJ=0.1588;gnomAD_exome_EAS=0.2780;gnomAD_exome_FIN=0.1899;gnomAD_exome_NFE=0.1299;gnomAD_exome_OTH=0.1634;gnomAD_exome_SAS=0.2408;gnomAD_genome_ALL=0.2747;gnomAD_genome_AFR=0.5431;gnomAD_genome_AMR=0.1396;gnomAD_genome_ASJ=0.1424;gnomAD_genome_EAS=0.2749;gnomAD_genome_FIN=0.1920;gnomAD_genome_NFE=0.1536;gnomAD_genome_OTH=0.1933;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon6:c.C651A:p.T217T,LAMA4:NM_001105207:exon6:c.C651A:p.T217T,LAMA4:NM_002290:exon6:c.C651A:p.T217T;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.6402;dpsi_zscore=-2.282;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-523.787,0,-897.479,.,.,.:712:416:284,.:8663,.:13024 . . . . . . . . . . . . . . . . . . 0/1:-561.929,0,-735.624,.,.,.:625:339:274,.:8662,.:10890 . . . . 0/1:-483.637,0,-738.981,.,.,.:608:342:256,.:7793,.:10957 . . 0/1:-397.327,0,-597.221,.,.,.:506:287:216,.:6547,.:9001 . . 0/1:-437.876,0,-553.548,.,.,.:518:273:232,.:7032,.:8456 . . . . . . . 0/1:-433.566,0,-649.941,.,.,.:557:314:238,.:7178,.:9808 . . . . . 1/1:-1496.15,-162.976,0,.,.,.:587:5:572,.:17763,.:128 . . 0/1:-308.035,0,-534.036,.,.,.:433:255:173,.:5107,.:7837 . . . . . . 0/1:-557.44,0,-806.799,.,.,.:681:380:282,.:8892,.:11851 0/1:-530.825,0,-827.182,.,.,.:688:395:283,.:8732,.:12200 . . 0/1:-381.428,0,-465.203,.,.,.:433:225:203,.:6171,.:7025 . 0/1:-504.563,0,-719.641,.,.,.:631:345:274,.:8353,.:10761 0/1:-415.52,0,-923.758,.,.,.:667:422:236,.:7165,.:13293 . 0/1:-387.056,0,-657.28,.,.,.:538:310:220,.:6456,.:9556 . 0/1:-422.258,0,-407.283,.,.,.:415:195:212,.:6365,.:6251 . . 0/1:-320.87,0,-632.496,.,.,.:488:299:179,.:5451,.:9228 . . . . . . . 0/1:-61.8287,0,-142.295,.,.,.:95:59:33,.:1012,.:1951:59,33 0/0:0,.,.,-19.4259,.,-240.92:100:93:.,7:.,120:2919:93,7 0/1:-46.1649,0,-61.4908,.,.,.:52:27:24,.:709,.:904:27,24 . . 0/1:-49.3215,0,-113.351,.,.,.:74:48:24,.:804,.:1549:48,24 . . . . . . . 0/1:-42.9387,0,-127.199,.,.,.:84:58:26,.:770,.:1787:58,26 0/1:-42.8826,0,-67.2617,.,.,.:53:29:21,.:655,.:937:29,21 . . . . chr6 112522852 . G A 10607.88 . AB=0.469484;ABP=13.3477;AC=25;AF=0.5;AN=50;AO=600;CIGAR=1X;DP=32810;DPB=1278;DPRA=0;EPP=493.126;EPPR=358.61;GTI=0;LEN=1;MEANALT=3;MQM=39.055;MQMR=40.0744;NS=1;NUMALT=1;ODDS=2265.34;PAIRED=0.968333;PAIREDR=0.981395;PAO=0;PQA=0;PQR=0;PRO=0;QA=16559;QR=17849;RO=645;RPL=285;RPP=6.26751;RPPR=13.9485;RPR=315;RUN=1;SAF=301;SAP=3.02478;SAR=299;SF=0,1;SRF=320;SRP=3.09447;SRR=325;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon5:c.C460T:p.R154W,LAMA4:NM_001105207:exon5:c.C460T:p.R154W,LAMA4:NM_002290:exon5:c.C460T:p.R154W;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0470;esp6500siv2_ea=0.0649;esp6500siv2_all=0.0470;esp6500siv2_ea=0.0649;1000g2015aug_all=0.0309505;avsnp147=rs11757455;Kaviar_AF=0.0517975;Kaviar_AC=8008;Kaviar_AN=154602;ExAC_ALL=0.0531;ExAC_AFR=0.0113;ExAC_AMR=0.0274;ExAC_EAS=0.0001;ExAC_FIN=0.0373;ExAC_NFE=0.0609;ExAC_OTH=0.0617;ExAC_SAS=0.0993;CLNALLELEID=53559;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.031;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.902;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-4.62;PROVEAN_pred=D;VEST3_score=0.739;CADD_raw=7.272;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.898;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.225;MetaSVM_pred=T;MetaLR_score=0.348;MetaLR_pred=T;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=4.2;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.127;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=14.056;GDI_full_10282015=.;dpsi_max_tissue=-1.9339;dpsi_zscore=-1.879;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0526;gnomAD_exome_AFR=0.0098;gnomAD_exome_AMR=0.0270;gnomAD_exome_ASJ=0.0397;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0400;gnomAD_exome_NFE=0.0648;gnomAD_exome_OTH=0.0509;gnomAD_exome_SAS=0.1005;gnomAD_genome_ALL=0.0417;gnomAD_genome_AFR=0.0135;gnomAD_genome_AMR=0.0358;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0418;gnomAD_genome_NFE=0.0627;gnomAD_genome_OTH=0.0458;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1044.48,0,-1170.29:1278:645:600:16559:17849 . . . . . 0/1:-1121.82,0,-1154.24:1317:643:637:17447:17822 . 0/1:-1199.13,0,-1245.67:1368:688:650:18433:18888 . . 0/1:-1061.14,0,-1237.55:1309:676:600:16660:18736 . . . 0/1:-1503.4,0,-1810.6:1899:980:863:23726:27289 . . . . . . 0/1:-818.62,0,-816.877:985:473:481:12796:12835 . . 0/1:-810.911,0,-946.695:1098:555:494:13262:14740 0/1:-1226.77,0,-1424.17:1489:753:695:19229:21385 . 0/1:-870.248,0,-926.455:1091:527:525:13926:14365 . . . . . . . . . . . . . . . . . . . . . 0/1:-1325.69,0,-1268.64:1510:722:740:20341:19697 . . . . . . . 0/1:-876.95,0,-1059.65:1126:579:511:13946:16061 . 0/1:-935.089,0,-739.659:979:433:515:14246:11778 . 0/1:-923.925,0,-984.84:1093:546:515:14346:15078 . 0/1:-1673.48,0,-1633.16:1883:909:917:25553:25093 . . . . 0/1:-1137.8,0,-1226.36:1363:678:644:17796:18792 . . . . . 0/1:-1277.47,0,-1374.15:1522:754:723:19809:21210 . 0/1:-1510.65,0,-1623.25:1812:910:859:23615:25029 . . . . . 0/1:-1146.16,0,-1047.65:1258:575:641:17543:16257 0/1:-1136.1,0,-1069.12:1325:627:658:17659:16905 0/1:-944.638,0,-1115.7:1202:620:552:15016:16866 . . . . . . . . . . . . 0/1:-1226.71,0,-1328.62:1284:653:608:18556:19673:653,608 . . 0/1:-1287.86,0,-1426.17:1351:690:637:19426:20965:690,637 . . . . . . . . 0/1:-1104.19,0,-1175.05:1156:580:548:16612:17291:580,548 . . 0/1:-1087.32,0,-1054.17:1056:508:533:16192:15546:508,533 0/1:-1077.36,0,-1050.24:1056:516:520:15852:15582:516,520 . chr6 112522893 . A C 10623.70 . AB=0.496;ABP=3.18402;AC=4;AF=0.5;AN=8;AO=620;CIGAR=1X;DP=4369;DPB=1250;DPRA=0;EPP=113.98;EPPR=153.813;GTI=0;LEN=1;MEANALT=3;MQM=39.3806;MQMR=39.9271;NS=1;NUMALT=1;ODDS=2677.4;PAIRED=0.964516;PAIREDR=0.987034;PAO=0;PQA=0;PQR=0;PRO=0;QA=18546;QR=18845;RO=617;RPL=268;RPP=27.7231;RPPR=29.6487;RPR=352;RUN=1;SAF=163;SAP=305.742;SAR=457;SF=0,1;SRF=166;SRP=288.874;SRR=451;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0207;esp6500siv2_ea=0.0103;esp6500siv2_all=0.0207;esp6500siv2_ea=0.0103;1000g2015aug_all=0.0207668;avsnp147=rs79008328;Kaviar_AF=0.012917;Kaviar_AC=1997;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0439;ExAC_AMR=0.0094;ExAC_EAS=0.0002;ExAC_FIN=0.0080;ExAC_NFE=0.0140;ExAC_OTH=0.0187;ExAC_SAS=0.0030;CLNALLELEID=53552;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5513;dpsi_zscore=-1.142;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0122;gnomAD_exome_AFR=0.0438;gnomAD_exome_AMR=0.0108;gnomAD_exome_ASJ=0.0237;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0071;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0174;gnomAD_exome_SAS=0.0035;gnomAD_genome_ALL=0.0179;gnomAD_genome_AFR=0.0397;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0107;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-1216.09,0,-1250.69:1250:617:620:18546:18845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1319.55,0,-1267.33:1286:621:650:19795:19337 . . . . . . . 0/1:-1078.52,0,-1196.12:1125:572:538:16361:17699 . . . . . . . . . . . . . . . 0/1:-635.517,0,-837.359:708:381:320:9839:12135:381,320 . . . . . . . . . . chr6 112537682 . A G 8612.61 . AB=0.488372;ABP=4.67678;AC=12;AF=0.5;AN=24;AO=693;CIGAR=1X;DP=13655;DPB=1419;DPRA=0;EPP=264.718;EPPR=186.047;GTI=0;LEN=1;MEANALT=3;MQM=39.9336;MQMR=40.4524;NS=1;NUMALT=1;ODDS=2610.05;PAIRED=0.975469;PAIREDR=0.967262;PAO=0;PQA=0;PQR=0;PRO=0;QA=18481;QR=19170;RO=672;RPL=356;RPP=4.14147;RPPR=13.1438;RPR=337;RUN=1;SAF=464;SAP=176.054;SAR=229;SF=0,1;SRF=455;SRP=186.047;SRR=217;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0195;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0195;1000g2015aug_all=0.0121805;avsnp147=rs78871662;Kaviar_AF=0.0188613;Kaviar_AC=2916;Kaviar_AN=154602;ExAC_ALL=0.0197;ExAC_AFR=0.0052;ExAC_AMR=0.0116;ExAC_EAS=0.0007;ExAC_FIN=0.0225;ExAC_NFE=0.0252;ExAC_OTH=0.0180;ExAC_SAS=0.0209;CLNALLELEID=53521;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3610;dpsi_zscore=0.973;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0190;gnomAD_exome_AFR=0.0054;gnomAD_exome_AMR=0.0136;gnomAD_exome_ASJ=0.0326;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0214;gnomAD_exome_NFE=0.0231;gnomAD_exome_OTH=0.0254;gnomAD_exome_SAS=0.0203;gnomAD_genome_ALL=0.0160;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0223;gnomAD_genome_NFE=0.0220;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-1186.51,0,-1252.31:1419:672:693:18481:19170 . . . . 0/1:-930.079,0,-1218.51:1213:628:544:14662:18183 . . . . . . . . . . . . . . . 0/1:-927.912,0,-1029.42:1149:565:550:14404:15800 0/1:-890.985,0,-1076.53:1158:572:532:14057:16198 . . . . . . . . . . 0/1:-842.805,0,-916.9:1014:494:486:13114:14126 . . . . . . . . . . . . . . . 0/1:-833.83,0,-891.723:1039:488:496:13006:13931 0/1:-1198.05,0,-1512.12:1585:796:733:19125:22636 . . . 0/1:-986.974,0,-1172.95:1276:625:601:15760:17963 . . 0/1:-572.423,0,-858.019:830:448:351:9312:12543 . . . . . . . . . . 0/1:-1044.06,0,-1119.76:1249:605:597:16109:17227 . . . . . . . . . . . . . . . 0/1:-762.896,0,-857.323:853:427:401:11718:12610:427,401 . . . . 0/1:-771.797,0,-883.533:870:444:408:11859:13150:444,408 . . . . . chr6 112575014 . A G 5715.05 . AB=0.449451;ABP=23.2074;AC=1;AF=0.5;AN=2;AO=409;CIGAR=1X;DP=910;DPB=910;DPRA=0;EPP=144.071;EPPR=99.4543;GTI=0;LEN=1;MEANALT=3;MQM=35.0685;MQMR=36.2775;NS=1;NUMALT=1;ODDS=1315.94;PAIRED=0.948655;PAIREDR=0.949339;PAO=0;PQA=0;PQR=0;PRO=0;QA=10541;QR=12976;RO=454;RPL=237;RPP=25.4418;RPPR=23.845;RPR=172;RUN=1;SAF=222;SAP=9.5141;SAR=187;SF=0;SRF=238;SRP=5.32526;SRR=216;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105208:exon2:c.T339C:p.L113L,LAMA4:NM_001105209:exon2:c.T339C:p.L113L;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0143;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0143;1000g2015aug_all=0.00599042;avsnp147=rs147118520;Kaviar_AF=0.0126712;Kaviar_AC=1959;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0022;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0568;ExAC_NFE=0.0166;ExAC_OTH=0.0178;ExAC_SAS=0.0042;CLNALLELEID=176858;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5582;dpsi_zscore=1.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0029;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0575;gnomAD_exome_NFE=0.0158;gnomAD_exome_OTH=0.0150;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0190;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0552;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0285;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-597.158,0,-802.212:910:454:409:10541:12976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 112575162 . G A 4357.91 . AB=0.431075;ABP=38.3322;AC=1;AF=0.5;AN=2;AO=369;CIGAR=1X;DP=856;DPB=856;DPRA=0;EPP=70.3848;EPPR=12.6832;GTI=0;LEN=1;MEANALT=3;MQM=33.9539;MQMR=34.1768;NS=1;NUMALT=1;ODDS=1003.45;PAIRED=0.97832;PAIREDR=0.949495;PAO=0;PQA=0;PQR=0;PRO=0;QA=8922;QR=12275;RO=396;RPL=131;RPP=70.3848;RPPR=64.6231;RPR=238;RUN=1;SAF=237;SAP=67.8897;SAR=132;SF=0;SRF=252;SRP=66.97;SRR=144;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon2:c.C191T:p.A64V,LAMA4:NM_001105207:exon2:c.C191T:p.A64V,LAMA4:NM_001105208:exon2:c.C191T:p.A64V,LAMA4:NM_001105209:exon2:c.C191T:p.A64V,LAMA4:NM_002290:exon2:c.C191T:p.A64V;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs376091454;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=3.391e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.334e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.242;SIFT_pred=T;Polyphen2_HDIV_score=0.077;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_pred=B;LRT_score=0.554;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=2.61;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_pred=N;VEST3_score=0.347;CADD_raw=0.431;CADD_phred=6.878;DANN_score=0.976;fathmm-MKL_coding_score=0.089;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.008;MetaSVM_pred=T;MetaLR_score=0.027;MetaLR_pred=T;integrated_fitCons_score=0.437;integrated_confidence_value=0;GERP++_RS=0.712;phyloP7way_vertebrate=0.830;phyloP20way_mammalian=0.724;phastCons7way_vertebrate=0.398;phastCons20way_mammalian=0.760;SiPhy_29way_logOdds=5.325;GDI_full_10282015=.;dpsi_max_tissue=-0.3899;dpsi_zscore=-0.971;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.911e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.486e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.517e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=3.563e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-463.876,0,-712.104:856:396:369:8922:12275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 121768398 . C T 738.48 . AB=0.390282;ABP=69.7201;AC=1;AF=0.5;AN=2;AO=249;CIGAR=1X;DP=638;DPB=638;DPRA=0;EPP=9.36774;EPPR=29.8576;GTI=0;LEN=1;MEANALT=3;MQM=12.7992;MQMR=16.2941;NS=1;NUMALT=1;ODDS=170.041;PAIRED=0.987952;PAIREDR=0.975936;PAO=0;PQA=0;PQR=0;PRO=0;QA=7846;QR=11646;RO=374;RPL=152;RPP=29.3906;RPPR=63.4167;RPR=97;RUN=1;SAF=116;SAP=5.5306;SAR=133;SF=0;SRF=185;SRP=3.1032;SRR=189;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.C405T:p.F135F;cytoBand=6q22.31;genomicSuperDups=Score\x3d0.967911\x3bName\x3dchr5:108385297;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs771460977;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.236e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-90.242,0,-333.571:638:374:249:7846:11646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 121768710 . G A 1486.42 . AB=0.449438;ABP=12.8917;AC=4;AF=0.5;AN=8;AO=200;CIGAR=1X;DP=2448;DPB=445;DPRA=0;EPP=20.3821;EPPR=22.3163;GTI=0;LEN=1;MEANALT=3;MQM=13.365;MQMR=13.4496;NS=1;NUMALT=1;ODDS=201.835;PAIRED=0.95;PAIREDR=0.978992;PAO=0;PQA=0;PQR=0;PRO=0;QA=5933;QR=7249;RO=238;RPL=120;RPP=20.3821;RPPR=13.5575;RPR=80;RUN=1;SAF=86;SAP=11.5225;SAR=114;SF=0,1;SRF=96;SRP=22.3163;SRR=142;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.G717A:p.R239R;cytoBand=6q22.31;genomicSuperDups=Score\x3d0.967911\x3bName\x3dchr5:108385297;esp6500siv2_all=0.0349;esp6500siv2_ea=0.0148;esp6500siv2_all=0.0349;esp6500siv2_ea=0.0148;1000g2015aug_all=0.034345;avsnp147=rs57946868;Kaviar_AF=0.0190166;Kaviar_AC=2940;Kaviar_AN=154602;ExAC_ALL=0.0199;ExAC_AFR=0.0849;ExAC_AMR=0.0091;ExAC_EAS=0.0020;ExAC_FIN=0.0035;ExAC_NFE=0.0126;ExAC_OTH=0.0121;ExAC_SAS=0.0324;CLNALLELEID=141185;CLNDN=Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified;CLNDISDB=MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN031062,OMIM:241550|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0174;gnomAD_exome_AFR=0.0846;gnomAD_exome_AMR=0.0091;gnomAD_exome_ASJ=0.0096;gnomAD_exome_EAS=0.0019;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0324;gnomAD_genome_ALL=0.0303;gnomAD_genome_AFR=0.0776;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0153;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-99.8673,0,-144.715:445:238:200:5933:7249 . . . . . . . . . . . . . . . . . . 0/1:-189.103,0,-271.085:800:401:376:10983:12204 . . . . . . . . . . . . . . . . . . . . . 0/1:-110.854,0,-98.2387:436:197:228:6642:5868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-291.957,0,-334.333:767:364:392:12381:11663:364,392 . chr6 121768751 . C T 1925.90 . AB=0.468591;ABP=8.05741;AC=5;AF=0.5;AN=10;AO=276;CIGAR=1X;DP=4257;DPB=589;DPRA=0;EPP=29.4771;EPPR=81.7157;GTI=0;LEN=1;MEANALT=2;MQM=13.7681;MQMR=17.0355;NS=1;NUMALT=1;ODDS=318.572;PAIRED=0.981884;PAIREDR=0.977419;PAO=0;PQA=0;PQR=0;PRO=0;QA=8623;QR=9760;RO=310;RPL=104;RPP=39.3903;RPPR=144.254;RPR=172;RUN=1;SAF=161;SAP=19.6583;SAR=115;SF=0;SRF=188;SRP=33.523;SRR=122;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.C758T:p.A253V;cytoBand=6q22.31;genomicSuperDups=Score\x3d0.967911\x3bName\x3dchr5:108385297;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0160;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0160;1000g2015aug_all=0.00299521;avsnp147=rs17653265;Kaviar_AF=0.0085186;Kaviar_AC=1317;Kaviar_AN=154602;ExAC_ALL=0.0078;ExAC_AFR=0.0016;ExAC_AMR=0.0069;ExAC_EAS=0.0001;ExAC_FIN=0.0023;ExAC_NFE=0.0123;ExAC_OTH=0.0033;ExAC_SAS=0.0011;CLNALLELEID=141186;CLNDN=Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified;CLNDISDB=MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.175;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.275;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-4.29;FATHMM_pred=D;PROVEAN_score=-0.82;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=0.820;CADD_phred=9.586;DANN_score=0.978;fathmm-MKL_coding_score=0.794;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.209;MetaSVM_pred=T;MetaLR_score=0.562;MetaLR_pred=D;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=3.89;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.890;phastCons7way_vertebrate=0.760;phastCons20way_mammalian=0.017;SiPhy_29way_logOdds=10.136;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM061785#"Attenuated_phenotype_in_glaucoma";gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0078;gnomAD_exome_ASJ=0.0025;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0138;gnomAD_exome_OTH=0.0100;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0119;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-154.206,0,-272.081:589:310:276:8623:9760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-246.205,0,-379.626:917:471:435:13406:15155 . 0/1:-312.986,0,-430.124:1057:531:511:15674:17167 . . . . . . . . 0/1:-198.793,0,-366.736:839:453:377:11662:14267 . . . . . . . . . 0/1:-191.069,0,-378.891:855:468:379:11840:15016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 121769144 . TAC TAAC 513.62 . AB=0.438298;ABP=26.3236;AC=9;AF=0.5;AN=18;AO=309;CIGAR=1M1I2M;DP=5951;DPB=822.333;DPRA=0;EPP=12.6308;EPPR=21.8318;GTI=0;LEN=1;MEANALT=18;MQM=12.9061;MQMR=15.9054;NS=1;NUMALT=1;ODDS=119.797;PAIRED=0.97411;PAIREDR=0.988539;PAO=12;PQA=380.5;PQR=380.5;PRO=12;QA=3906;QR=10913;RO=349;RPL=147;RPP=4.59147;RPPR=8.98963;RPR=162;RUN=1;SAF=126;SAP=25.8424;SAR=183;SF=0;SRF=151;SRP=16.7547;SRR=198;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=GJA1;GeneDetail.refGene=NM_000165:c.*2_*3insA;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=Score\x3d0.967911\x3bName\x3dchr5:108385297;esp6500siv2_all=0.0346;esp6500siv2_ea=0.0471;esp6500siv2_all=0.0346;esp6500siv2_ea=0.0471;1000g2015aug_all=0.0579073;avsnp147=rs397824185;Kaviar_AF=0.0028331;Kaviar_AC=438;Kaviar_AN=154602;ExAC_ALL=0.0772;ExAC_AFR=0.0111;ExAC_AMR=0.4673;ExAC_EAS=0.0019;ExAC_FIN=0.0389;ExAC_NFE=0.0447;ExAC_OTH=0.0551;ExAC_SAS=0.0239;CLNALLELEID=252067;CLNDN=Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified;CLNDISDB=MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:CN031062,OMIM:241550|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0919;gnomAD_exome_AFR=0.0111;gnomAD_exome_AMR=0.4472;gnomAD_exome_ASJ=0.0483;gnomAD_exome_EAS=0.0020;gnomAD_exome_FIN=0.0409;gnomAD_exome_NFE=0.0426;gnomAD_exome_OTH=0.0783;gnomAD_exome_SAS=0.0234;gnomAD_genome_ALL=0.0460;gnomAD_genome_AFR=0.0124;gnomAD_genome_AMR=0.3723;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0421;gnomAD_genome_NFE=0.0512;gnomAD_genome_OTH=0.0727;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-63.4998,0,-273.36:705:349:309:3906:10913 . . . . . . . . . . . . . . 0/1:-71.1195,0,-149.79:444:212:209:2786:6562 . . . . . . 0/1:-55.0224,0,-279.824:666:339:299:3667:10508 . . . 0/1:-109.128,0,-328.029:811:393:367:4822:12360 . . . . . . . . . . . 0/1:-35.6313,0,-251.585:597:330:230:3006:10200 . . . . . 0/1:-93.8926,0,-274.202:738:363:332:4423:11405 . . 0/1:-63.7229,0,-313.304:759:384:326:4129:11905 . . . . . . . . . . . . . . . . . . . 0/1:-48.8644,0,-260.755:663:341:287:3560:10552 . 0/1:-31.3316,0,-249.873:568:305:226:2903:9522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123539731 . G A 9152.15 . AB=0.487903;ABP=4.27115;AC=1;AF=0.5;AN=2;AO=484;CIGAR=1X;DP=992;DPB=992;DPRA=0;EPP=22.5536;EPPR=16.9647;GTI=0;LEN=1;MEANALT=3;MQM=39.1901;MQMR=39.1455;NS=1;NUMALT=1;ODDS=2107.36;PAIRED=0.950413;PAIREDR=0.983607;PAO=0;PQA=0;PQR=0;PRO=0;QA=14491;QR=14963;RO=488;RPL=219;RPP=12.5038;RPPR=105.817;RPR=265;RUN=1;SAF=266;SAP=13.3472;SAR=218;SF=0;SRF=304;SRP=67.0865;SRR=184;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:c.*15C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs369648462;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=8.922e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=301354;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.096e-05;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-927.071,0,-984.726:992:488:484:14491:14963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123539904 . C T 13671.37 . AB=0.467027;ABP=11.7455;AC=108;AF=0.5;AN=168;AO=432;CIGAR=1X;DP=84213;DPB=925;DPRA=0;EPP=3.03041;EPPR=9.6818;GTI=0;LEN=1;MEANALT=3;MQM=38.3958;MQMR=39.7702;NS=1;NUMALT=1;ODDS=1802.69;PAIRED=0.979167;PAIREDR=0.957447;PAO=0;PQA=0;PQR=0;PRO=0;QA=12822;QR=14314;RO=470;RPL=283;RPP=93.2671;RPPR=166.305;RPR=149;RUN=1;SAF=162;SAP=61.6401;SAR=270;SF=0,1;SRF=193;SRP=35.6101;SRR=277;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.4212;esp6500siv2_ea=0.4593;esp6500siv2_all=0.4212;esp6500siv2_ea=0.4593;1000g2015aug_all=0.375998;avsnp147=rs7754205;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;ExAC_ALL=0.4253;ExAC_AFR=0.3732;ExAC_AMR=0.5797;ExAC_EAS=0.3703;ExAC_FIN=0.3812;ExAC_NFE=0.5013;ExAC_OTH=0.45;ExAC_SAS=0.3168;CLNALLELEID=252068;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4418;gnomAD_exome_AFR=0.3591;gnomAD_exome_AMR=0.6205;gnomAD_exome_ASJ=0.5023;gnomAD_exome_EAS=0.3016;gnomAD_exome_FIN=0.3604;gnomAD_exome_NFE=0.4754;gnomAD_exome_OTH=0.4795;gnomAD_exome_SAS=0.2960;gnomAD_genome_ALL=0.4092;gnomAD_genome_AFR=0.3511;gnomAD_genome_AMR=0.6106;gnomAD_genome_ASJ=0.5232;gnomAD_genome_EAS=0.3166;gnomAD_genome_FIN=0.3565;gnomAD_genome_NFE=0.4510;gnomAD_genome_OTH=0.4138;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-805.439,0,-962.491:925:470:432:12822:14314 0/1:-926.982,0,-1311.58:1165:626:515:15106:19334 0/1:-866.67,0,-1070.8:969:516:435:13539:15828 . . 1/1:-3383.35,-337.776,0:1400:29:1350:40847:899 0/1:-713.847,0,-880.418:841:436:389:11356:13071 1/1:-2762.8,-305.099,0:1129:12:1098:33132:349 . 1/1:-2532.05,-273.801,0:1054:14:1018:30460:424 1/1:-2372.58,-243.862,0:960:17:929:28388:487 0/1:-836.784,0,-1217.45:1054:581:453:13400:17932 0/1:-1048,0,-1040.74:1054:513:527:15889:15808 1/1:-2208.15,-258.258,0:898:2:873:26244:68 0/1:-795.529,0,-965.883:895:466:418:12650:14438 . 0/1:-750.56,0,-814.077:828:404:405:12099:12506 0/1:-2131.23,0,-2203.44:2197:1077:1082:32985:33412 . 0/1:-622.972,0,-758.077:715:370:333:10014:11273 . 0/1:-1178.07,0,-1275.38:1251:623:598:18133:19197 0/1:-480.108,0,-667.265:608:327:272:7981:9849 1/1:-3145.75,-320.965,0:1309:25:1261:38006:773 1/1:-3190.32,-352.98,0:1293:13:1260:37843:385 0/1:-652.127,0,-787.649:772:403:350:10453:12032 1/1:-2770.62,-284.418,0:1126:19:1095:33322:584 . 0/1:-799.034,0,-912.586:917:461:428:12739:13931 . 0/1:-1001.75,0,-1009.19:1071:522:530:15850:15643 0/1:-1389.8,0,-1391.99:1412:687:699:21289:21355 0/1:-1111.04,0,-1072.79:1135:548:567:17058:16540 0/1:-235.857,0,-238.092:247:124:121:3642:3737 1/1:-2472.89,-275.448,0:1022:12:992:29900:357 0/1:-1179.17,0,-1124.13:1196:568:599:18009:17279 0/1:-345.447,0,-286.963:315:142:169:5089:4589 . 0/1:-1049.01,0,-978.046:1042:499:525:15916:15145 0/1:-242.645,0,-283.18:268:139:126:3789:4221 . . 0/1:-1029.75,0,-979.363:1034:494:521:15657:15125 . 0/1:-1036.26,0,-1508.2:1292:723:549:16933:22191 0/1:-1035.75,0,-1219.83:1149:588:541:16201:18238 0/1:-1083.39,0,-973.361:1075:504:543:16514:15200 1/1:-1403.37,-152.144,0:567:6:553:16664:182 1/1:-2196.57,-244.914,0:886:8:862:25980:203 0/1:-1175.53,0,-1322.21:1254:646:589:18117:19862 0/1:-1053.82,0,-1220.74:1184:601:562:16478:18460 0/1:-829.805,0,-1073.18:1056:555:469:13726:16603 0/1:-1296.08,0,-1314.58:1327:658:644:19636:19933 1/1:-2768.76,-288.593,0:1144:18:1103:33150:597 0/1:-650.551,0,-694.932:729:358:357:10520:10864 0/1:-771.697,0,-821.737:802:395:388:11675:12358 0/1:-1089.72,0,-1105.41:1118:552:545:16586:16759 0/1:-592.494,0,-614.391:659:318:328:9400:9766 0/1:-585.21,0,-907.02:785:428:334:9757:13456 . . . . 1/1:-1831.11,-195.674,0:774:13:746:22008:372 1/1:-3210.41,-345.793,0:1323:21:1279:38385:574 0/1:-1110.14,0,-1060.5:1125:541:565:17042:16537 0/1:-582.046,0,-588.714:642:313:313:9260:9393 1/1:-2506.17,-283.155,0:1011:5:986:29599:172 1/1:-2270.73,-244.179,0:918:10:891:27088:306 0/1:-1089.46,0,-1054.2:1122:530:572:16973:16361 0/1:-885.677,0,-1134.21:1062:564:477:14286:17201 0/1:-1127.96,0,-1218.36:1180:590:570:17380:18283 0/1:-977.901,0,-1009.41:1010:500:489:15023:15208 0/1:-668.137,0,-715.128:818:397:400:11003:11454 1/1:-2038.32,-223.88,0:826:10:799:24247:267 0/1:-987.13,0,-1104.83:1102:556:524:15328:16795 0/1:-1121.66,0,-1354.12:1237:653:569:17395:19983 . . 0/1:-621.185,0,-666.452:637:324:301:9418:10156 0/1:-933.007,0,-1136.24:1095:563:505:14976:16954 . . 0/1:-910.598,0,-832.591:900:429:463:14112:12987 . . 0/1:-771.805,0,-703.208:756:351:391:11629:10857 . 1/1:-1529.1,-163.678,0:634:8:611:18290:256 0/1:-828.086,0,-1167.84:1030:570:441:13402:17207 1/1:-2864.35,-275.535,0:1227:38:1164:35081:1070 0/1:-925.365,0,-986.349:1002:496:483:14471:15022 . . . . 0/1:-1477.92,0,-1171.4:1266:574:680:21592:17810:574,680 0/1:-1152.53,0,-1261.36:1127:573:542:17242:18340:573,542 1/1:-3367.82,-342.242,0:1262:14:1237:39385:466:14,1237 1/1:-1797.55,-177.748,0:678:9:659:21044:264:9,659 0/1:-1009.94,0,-1171.86:1046:547:488:15343:17075:547,488 1/1:-3059.6,-321.854,0:1145:6:1121:35671:196:6,1121 1/1:-2943.66,-317.106,0:1090:3:1081:34264:104:3,1081 0/1:-1017.25,0,-1234.4:1044:552:479:15461:17787:552,479 . 0/1:-1188.62,0,-1107.64:1080:526:549:17565:16649:526,549 0/1:-1207.12,0,-1151.32:1097:537:554:17774:17081:537,554 0/1:-833.181,0,-920.85:839:434:396:12611:13543:434,396 0/1:-990.877,0,-1076.92:977:500:469:14908:15856:500,469 . 0/1:-1111.79,0,-1186.48:1084:553:519:16612:17613:553,519 1/1:-2858.25,-309.293,0:1046:1:1037:33098:36:1,1037 0/1:-874.206,0,-974.306:872:445:420:13117:14173:445,420 . . . chr6 123542581 . G A 3771.24 . AB=0.54023;ABP=7.90235;AC=1;AF=0.5;AN=2;AO=188;CIGAR=1X;DP=348;DPB=348;DPRA=0;EPP=16.3625;EPPR=4.14507;GTI=0;LEN=1;MEANALT=3;MQM=40.9787;MQMR=41.2903;NS=1;NUMALT=1;ODDS=725.639;PAIRED=0.989362;PAIREDR=0.987097;PAO=0;PQA=0;PQR=0;PRO=0;QA=5784;QR=4980;RO=155;RPL=71;RPP=27.4509;RPPR=33.9573;RPR=117;RUN=1;SAF=144;SAP=118.514;SAR=44;SF=0;SRF=108;SRP=55.1396;SRR=47;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=.;esp6500siv2_all=0.0072;esp6500siv2_ea=.;1000g2015aug_all=0.0061901;avsnp147=rs140547828;Kaviar_AF=0.0018057;Kaviar_AC=47;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3481;dpsi_zscore=0.957;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0067;gnomAD_genome_AFR=0.0228;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-400.772,0,-331.333:348:155:188:5784:4980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123545159 . GAAAAAAAAAAAAAAGACAGACAAAAACCT GAAAAAAAAAAAAAGACAGACAAAAACCT,TAAAAAAAAAAAAAAGACAGACAAAAACCT,GAAAAAAAAAAAAGACAGACAAAAACCT 212.95 . AB=0.163265;ABP=147.79;AC=18,2,1;AF=0.5;AN=36;AO=24;CIGAR=1M1D28M;DP=3659;DPB=146.467;DPRA=0;EPP=4.45795;EPPR=19.0002;GTI=0;LEN=1;MEANALT=87;MQM=36.125;MQMR=38;NS=1;NUMALT=1;ODDS=10.4684;PAIRED=1;PAIREDR=0.909091;PAO=3.5;PQA=68.5;PQR=103.5;PRO=5.5;QA=510;QR=335;RO=11;RPL=10;RPP=4.45795;RPPR=26.8965;RPR=14;RUN=1;SAF=16;SAP=8.80089;SAR=8;SF=1;SRF=10;SRP=19.0002;SRR=1;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.50639;avsnp147=rs11368178;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4985;gnomAD_genome_AFR=0.5542;gnomAD_genome_AMR=0.6;gnomAD_genome_ASJ=0.5512;gnomAD_genome_EAS=0.3766;gnomAD_genome_FIN=0.4425;gnomAD_genome_NFE=0.4794;gnomAD_genome_OTH=0.4709;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0265;dpsi_zscore=0.177;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs80224289;Kaviar_AF=0.0013831;Kaviar_AC=36;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0083;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0085;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-29.2047,0,-16.3133,.,.,.,.,.,.,.:147:11:24,.,.:510,.,.:335:11,24 0/1:-31.585,0,-14.3272,.,.,.,.,.,.,.:233:12:35,.,.:752,.,.:373:12,35 1/1:-90.6999,-26.113,0,.,.,.,.,.,.,.:234:3:59,.,.:1240,.,.:92:3,59 . 0/1:-22.5571,0,-8.26021,.,.,.,.,.,.,.:150:12:20,.,.:474,.,.:376:12,20 1/1:-66.8421,-1.10173,0,.,.,.,.,.,.,.:258:6:46,.,.:1163,.,.:185:6,46 1/1:-58.1266,-10.7361,0,.,.,.,.,.,.,.:237:7:48,.,.:999,.,.:223:7,48 0/1:-16.9652,0,-19.3471,.,.,.,.,.,.,.:225:13:20,.,.:453,.,.:407:13,20 0/2:-2.40481,.,.,0,.,-57.8835,.,.,.,.:186:16:.,13,.:.,165,.:489:16,13 0/1:-23.9715,0,-13.7901,.,.,.,.,.,.,.:182:13:24,.,.:529,.,.:393:13,24 0/1:-27.5512,0,-21.8186,.,.,.,.,.,.,.:237:17:32,.,.:669,.,.:529:17,32 0/1:-4.19541,0,-29.2898,.,.,.,-4.1354,-27.4246,.,-34.77:187:14:18,.,12:319,.,257:398:14,18,12 0/1:-32.1905,0,-4.93281,.,.,.,.,.,.,.:203:11:26,.,.:677,.,.:340:11,26 0/0:0,-2.39945,-65.2328,-4.05399,-61.7626,-64.5785,.,.,.,.:200:30:13,14,.:247,189,.:919:30,13,14 0/1:-25.623,0,-27.0725,.,.,.,.,.,.,.:179:19:32,.,.:664,.,.:580:19,32 1/3:-69.4129,-9.01136,-9.11204,.,.,.,-51.5724,0,.,-57.3917:262:6:41,.,22:997,.,438:173:6,41,22 0/1:-14.6177,0,-12.5352,.,.,.,.,.,.,.:168:14:22,.,.:508,.,.:434:14,22 0/2:-2.86044,-1.01948,-33.6009,0,-28.6343,-30.4189,.,.,.,.:221:18:15,13,.:280,201,.:540:18,15,13 . 0/1:-2.95714,0,-32.6772,.,.,.,.,.,.,.:150:17:9,.,.:179,.,.:518:17,9 chr6 123580844 . A T 3906.70 . AB=0.537879;ABP=7.94546;AC=1;AF=0.5;AN=2;AO=213;CIGAR=1X;DP=396;DPB=396;DPRA=0;EPP=4.73321;EPPR=7.78277;GTI=0;LEN=1;MEANALT=2;MQM=40.2582;MQMR=40.7363;NS=1;NUMALT=1;ODDS=771.59;PAIRED=0.981221;PAIREDR=0.994505;PAO=0;PQA=0;PQR=0;PRO=0;QA=6137;QR=5502;RO=182;RPL=134;RPP=33.8493;RPPR=3.05802;RPR=79;RUN=1;SAF=50;SAP=133.187;SAR=163;SF=0;SRF=35;SRP=152.675;SRR=147;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0148;dpsi_zscore=0.101;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.317e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.066e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-415.296,0,-359.177:396:182:213:6137:5502 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123581789 . GAAAAAAAAAAAAAAAG AAAAAAAAAAAAAAAAG,GAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAG 92.90 . AB=0;ABP=0;AC=4,1,1;AF=1;AN=8;AO=44;CIGAR=1X16M;DP=626;DPB=242.118;DPRA=0;EPP=81.9729;EPPR=7.35324;GTI=0;LEN=1;MEANALT=34;MQM=22.7727;MQMR=41;NS=1;NUMALT=1;ODDS=21.542;PAIRED=0.931818;PAIREDR=1;PAO=13.5;PQA=292.5;PQR=328.5;PRO=15.5;QA=562;QR=47;RO=2;RPL=3;RPP=74.2741;RPPR=7.35324;RPR=41;RUN=1;SAF=1;SAP=90.0666;SAR=43;SF=0;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201544606;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.1170;ExAC_AFR=0.1375;ExAC_AMR=0.1;ExAC_EAS=0.1127;ExAC_FIN=0.2567;ExAC_NFE=0.0937;ExAC_OTH=0.1374;ExAC_SAS=0.1064;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0628;dpsi_zscore=1.558;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0581;gnomAD_exome_AFR=0.0439;gnomAD_exome_AMR=0.0238;gnomAD_exome_ASJ=0.0484;gnomAD_exome_EAS=0.0207;gnomAD_exome_FIN=0.1248;gnomAD_exome_NFE=0.0579;gnomAD_exome_OTH=0.0561;gnomAD_exome_SAS=0.0440;gnomAD_genome_ALL=0.0209;gnomAD_genome_AFR=0.0144;gnomAD_genome_AMR=0.0371;gnomAD_genome_ASJ=0.0214;gnomAD_genome_EAS=0.0122;gnomAD_genome_FIN=0.1583;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0246;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.9920;dpsi_zscore=-2.616;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . 1/1:-38.544,-19.5711,0,.,.,.,.,.,.,.:218:2:44,.,.:562,.,.:47 . . . . . . . . . . . . . . . . . . 1/1:-38.0592,-15.723,0,.,.,.,.,.,.,.:185:5:40,.,.:492,.,.:116 . . . . . . . . . . . . . . . . . . 0/2:-17.7069,.,.,0,.,-1.75497,.,.,.,.:70:1:.,17,.:.,291,.:27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/3:.,.,.,.,.,.,.,.,.,-105.57:153:77:.,.,48:.,.,785:1899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123586502 . A C 7045.78 . AB=0.4875;ABP=3.98746;AC=1;AF=0.5;AN=2;AO=351;CIGAR=1X;DP=720;DPB=720;DPRA=0;EPP=10.5888;EPPR=7.04303;GTI=0;LEN=1;MEANALT=3;MQM=41.3162;MQMR=40.4038;NS=1;NUMALT=1;ODDS=1622.35;PAIRED=0.991453;PAIREDR=0.980769;PAO=0;PQA=0;PQR=0;PRO=0;QA=10634;QR=11141;RO=364;RPL=191;RPP=8.95556;RPPR=97.7199;RPR=160;RUN=1;SAF=143;SAP=29.1484;SAR=208;SF=0;SRF=150;SRP=27.4453;SRR=214;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0640;dpsi_zscore=0.358;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-716.239,0,-741.875:720:364:351:10634:11141 . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123594181 . T G 2177.64 . AB=0.392027;ABP=33.4903;AC=1;AF=0.5;AN=2;AO=118;CIGAR=1X;DP=301;DPB=301;DPRA=0;EPP=3.30474;EPPR=21.2579;GTI=0;LEN=1;MEANALT=2;MQM=41.4068;MQMR=40.8729;NS=1;NUMALT=1;ODDS=501.419;PAIRED=1;PAIREDR=0.98895;PAO=0;PQA=0;PQR=0;PRO=0;QA=3646;QR=5502;RO=181;RPL=53;RPP=5.66023;RPPR=3.11827;RPR=65;RUN=1;SAF=76;SAP=24.2834;SAR=42;SF=0;SRF=107;SRP=16.0751;SRR=74;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3585;dpsi_zscore=-0.933;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-229.83,0,-389.614:301:181:118:3646:5502 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123594217 . G A 3570.18 . AB=0.472296;ABP=5.537;AC=3;AF=0.5;AN=6;AO=179;CIGAR=1X;DP=1178;DPB=379;DPRA=0;EPP=9.42767;EPPR=15.9496;GTI=0;LEN=1;MEANALT=2;MQM=39.8827;MQMR=40.9485;NS=1;NUMALT=1;ODDS=745.508;PAIRED=0.988827;PAIREDR=0.974227;PAO=0;PQA=0;PQR=0;PRO=0;QA=5289;QR=6115;RO=194;RPL=127;RPP=71.2479;RPPR=22.755;RPR=52;RUN=1;SAF=83;SAP=5.06046;SAR=96;SF=0;SRF=98;SRP=3.05507;SRR=96;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00219649;avsnp147=rs531233884;Kaviar_AF=0.003381;Kaviar_AC=88;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4893;dpsi_zscore=1.122;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0045;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0121;gnomAD_genome_NFE=0.0056;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-338.801,0,-419.623:379:194:179:5289:6115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-354.285,0,-406.836:377:193:182:5390:5930 . . . . . . . . 0/1:-411.963,0,-425.966:422:207:203:6167:6348 . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123594425 . C T 2816.14 . AB=0.472669;ABP=5.02816;AC=1;AF=0.5;AN=2;AO=147;CIGAR=1X;DP=311;DPB=311;DPRA=0;EPP=35.6415;EPPR=34.6753;GTI=0;LEN=1;MEANALT=2;MQM=41.102;MQMR=41.462;NS=1;NUMALT=1;ODDS=648.441;PAIRED=1;PAIREDR=0.993671;PAO=0;PQA=0;PQR=0;PRO=0;QA=4401;QR=4791;RO=158;RPL=72;RPP=3.14325;RPPR=6.52863;RPR=75;RUN=1;SAF=67;SAP=5.50675;SAR=80;SF=0;SRF=66;SRP=12.3009;SRR=92;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00299521;avsnp147=rs144333175;Kaviar_AF=0.0030352;Kaviar_AC=79;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.1097;dpsi_zscore=1.585;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0038;gnomAD_genome_AFR=0.0083;gnomAD_genome_AMR=0.0085;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0024;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-292.148,0,-328.984:311:158:147:4401:4791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123594508 . GCTAAAATAAATAAATAAC GCTAAAAATAAATAAATAAC,TCTAAAATAAATAAATAAC 204.16 . AB=0;ABP=0;AC=3,0;AF=0;AN=6;AO=2;CIGAR=1X;DP=91;DPB=30;DPRA=0;EPP=7.35324;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=31.5;MQMR=41.8571;NS=1;NUMALT=1;ODDS=31.802;PAIRED=0;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=68;QR=942;RO=28;RPL=0;RPP=7.35324;RPPR=5.80219;RPR=2;RUN=1;SAF=0;SAP=7.35324;SAR=2;SF=1;SRF=7;SRP=18.2106;SRR=21;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing\x3bsplicing;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:exon28:c.1598-2->T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.1377;esp6500siv2_ea=0.1584;esp6500siv2_all=0.1377;esp6500siv2_ea=0.1584;1000g2015aug_all=0.262979;avsnp147=rs147062785;Kaviar_AF=0.0025097;Kaviar_AC=388;Kaviar_AN=154602;ExAC_ALL=0.2704;ExAC_AFR=0.1156;ExAC_AMR=0.2554;ExAC_EAS=0.5356;ExAC_FIN=0.2940;ExAC_NFE=0.2040;ExAC_OTH=0.2593;ExAC_SAS=0.3306;CLNALLELEID=229391;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2259;gnomAD_exome_AFR=0.0864;gnomAD_exome_AMR=0.1780;gnomAD_exome_ASJ=0.1994;gnomAD_exome_EAS=0.4955;gnomAD_exome_FIN=0.2944;gnomAD_exome_NFE=0.1639;gnomAD_exome_OTH=0.2017;gnomAD_exome_SAS=0.3135;gnomAD_genome_ALL=0.1929;gnomAD_genome_AFR=0.0920;gnomAD_genome_AMR=0.2301;gnomAD_genome_ASJ=0.1755;gnomAD_genome_EAS=0.5315;gnomAD_genome_FIN=0.2900;gnomAD_genome_NFE=0.1900;gnomAD_genome_OTH=0.2207;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_006073:exon28:c.C1598A:p.A533D;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.856;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.266;Polyphen2_HVAR_pred=B;LRT_score=0.764;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=2.14;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.203;CADD_raw=-0.279;CADD_phred=0.740;DANN_score=0.965;fathmm-MKL_coding_score=0.056;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-2.12;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.135;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.016;SiPhy_29way_logOdds=5.010;GDI_full_10282015=.;dpsi_max_tissue=2.6819;dpsi_zscore=2.162;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-77.6501:30:28:.,2:.,68:942:28,2 . . . . . . . . . . . 0/1:-24.905,0,-29.3066,.,.,.:31:13:12,.:371,.:415:13,12 1/1:-46.5379,-4.03599,0,.,.,.:30:2:22,.:566,.:65:2,22 . chr6 123594510 . TAAAATAAATAAATAAC TAAAAATAAATAAATAAC 2310.64 . AB=0.490153;ABP=3.39518;AC=46;AF=0.5;AN=86;AO=224;CIGAR=1M1I2M;DP=13889;DPB=532.333;DPRA=0;EPP=10.6105;EPPR=29.6464;GTI=0;LEN=1;MEANALT=4;MQM=41.2411;MQMR=40.9563;NS=1;NUMALT=1;ODDS=788.451;PAIRED=0.973214;PAIREDR=0.973799;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=5614;QR=6717;RO=229;RPL=64;RPP=92.3509;RPPR=56.3489;RPR=160;RUN=1;SAF=102;SAP=6.88793;SAR=122;SF=0,1;SRF=113;SRP=3.09564;SRR=116;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing\x3bsplicing;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:exon28:c.1598-2->T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.1377;esp6500siv2_ea=0.1584;esp6500siv2_all=0.1377;esp6500siv2_ea=0.1584;1000g2015aug_all=0.262979;avsnp147=rs147062785;Kaviar_AF=0.0025097;Kaviar_AC=388;Kaviar_AN=154602;ExAC_ALL=0.2704;ExAC_AFR=0.1156;ExAC_AMR=0.2554;ExAC_EAS=0.5356;ExAC_FIN=0.2940;ExAC_NFE=0.2040;ExAC_OTH=0.2593;ExAC_SAS=0.3306;CLNALLELEID=229391;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2259;gnomAD_exome_AFR=0.0864;gnomAD_exome_AMR=0.1780;gnomAD_exome_ASJ=0.1994;gnomAD_exome_EAS=0.4955;gnomAD_exome_FIN=0.2944;gnomAD_exome_NFE=0.1639;gnomAD_exome_OTH=0.2017;gnomAD_exome_SAS=0.3135;gnomAD_genome_ALL=0.1929;gnomAD_genome_AFR=0.0920;gnomAD_genome_AMR=0.2301;gnomAD_genome_ASJ=0.1755;gnomAD_genome_EAS=0.5315;gnomAD_genome_FIN=0.2900;gnomAD_genome_NFE=0.1900;gnomAD_genome_OTH=0.2207;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:.,.,-448.636:457:229:224:5614:6717 . . . . . . 0/1:.,.,-341.508:344:183:157:3679:5129 . . 0/1:.,.,-432.572:411:220:188:4547:6322 . . . 0/1:.,.,-508.373:518:272:238:6123:7606 0/1:.,.,-389.871:413:201:204:4930:5840 . 0/1:.,.,-441.441:495:234:257:6157:6732 0/1:.,.,-247.351:251:132:118:2910:3679 . 0/1:.,.,-567.145:545:290:251:6116:8408 . . 0/1:.,.,-422.278:489:227:258:5893:6456 . 0/1:.,.,-378.623:374:193:177:4351:5559 . . 0/1:.,.,-382.89:345:193:150:3649:5589 . 0/1:.,.,-573.78:551:292:251:5828:8429 0/1:.,.,-397.721:453:227:221:5047:6116 . . 0/1:.,.,-457.081:436:235:194:4634:6699 0/1:.,.,-107.03:113:60:50:1116:1574 . . . . 0/1:.,.,-370.449:308:180:126:3035:5221 0/1:.,.,-311.483:311:159:148:3449:4606 . . . . . . 0/1:.,.,-458.364:465:243:218:5532:6825 0/1:.,.,-377.096:326:190:132:3232:5485 . 0/1:.,.,-550.415:495:272:219:5482:7970 . 0/1:.,.,-344.801:352:187:159:4079:5138 . . 0/1:.,.,-335.565:281:164:111:2529:4826 . 0/1:.,.,-239.195:290:129:157:3684:3714 1/1:.,.,0:353:18:326:7811:417 0/1:.,.,-459.292:439:240:193:4987:6723 . . . . 0/1:.,.,-360.303:343:184:156:3821:5287 . . . 0/1:.,.,-429.831:366:218:147:3538:6138 . . 0/1:.,.,-298.327:297:173:122:2605:4433 . . 0/1:.,.,-438.079:419:230:186:4440:6492 . 1/1:.,.,0:301:13:287:6701:295 0/1:.,.,-446.756:355:219:132:3149:6341 . . 0/1:.,.,-390.371:428:202:222:5242:5904 . . . 0/1:.,.,-431.907:366:216:142:3606:6172 . . 0/1:.,.,-465.936:520:248:262:6271:7090 . . . . 0/1:.,.,-502.136:480:254:214:5227:7336 . . 0/1:-21.2543,0,-40.8953:34:18:13:354:578:18,13 . . 0/1:-38.7307,0,-16.6322:30:9:20:540:284:9,20 . . . 0/1:-24.7514,0,-9.07798:20:5:13:341:162:5,13 0/1:-7.28423,0,-36.6937:22:15:5:149:479:15,5 . . 1/1:-16.6497,-0.596226,0:13:1:11:223:33:1,11 0/1:-27.5891,0,-34.2682:35:15:15:416:487:15,15 . . 0/1:-17.0209,0,-37.9311:28:17:11:289:531:17,11 . . 0/1:-8.4868,0,-19.6979:17:9:6:146:274:9,6 chr6 123595869 . A C 5041.85 . AB=0.510232;ABP=3.67685;AC=48;AF=0.5;AN=90;AO=374;CIGAR=1X;DP=24384;DPB=733;DPRA=0;EPP=58.7719;EPPR=104.66;GTI=0;LEN=1;MEANALT=3;MQM=40.1417;MQMR=40.8114;NS=1;NUMALT=1;ODDS=1442.97;PAIRED=0.991979;PAIREDR=0.991429;PAO=0;PQA=0;PQR=0;PRO=0;QA=10882;QR=10176;RO=350;RPL=193;RPP=3.84637;RPPR=11.9692;RPR=181;RUN=1;SAF=95;SAP=199.581;SAR=279;SF=0,1;SRF=83;SRP=213.06;SRR=267;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.1491;esp6500siv2_ea=0.1708;esp6500siv2_all=0.1491;esp6500siv2_ea=0.1708;1000g2015aug_all=0.263179;avsnp147=rs2873478;Kaviar_AF=0.0054941;Kaviar_AC=143;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.4864;dpsi_zscore=2.511;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1932;gnomAD_genome_AFR=0.0920;gnomAD_genome_AMR=0.2326;gnomAD_genome_ASJ=0.1755;gnomAD_genome_EAS=0.5307;gnomAD_genome_FIN=0.2907;gnomAD_genome_NFE=0.1901;gnomAD_genome_OTH=0.2188;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-731.117,0,-667.783:733:350:374:10882:10176 . . . . . . 0/1:-427.366,0,-492.625:495:259:232:6682:7362 . . 0/1:-453.22,0,-546.29:540:288:246:7001:8177 . . . 0/1:-680.34,0,-746.508:758:381:370:10380:11108 0/1:-526.565,0,-509.603:568:282:285:8052:7881 . 0/1:-619.679,0,-586.528:652:315:333:9343:9026 0/1:-402.323,0,-372.584:415:203:206:6036:5715 . 0/1:-723.568,0,-815.859:802:416:379:11047:12177 . . 0/1:-699.975,0,-635.943:731:352:378:10534:9829 . 0/1:-433.947,0,-445.536:464:236:227:6564:6758 . . 0/1:-354.596,0,-421.451:415:212:200:5503:6280 . 0/1:-836.535,0,-796.518:877:416:455:12736:12103 0/1:-695.126,0,-653.747:730:352:371:10381:10124 . . 0/1:-539.699,0,-693.571:663:353:303:8438:10200 0/1:-105.282,0,-160.782:149:83:64:1727:2335 . . . . 0/1:-381.844,0,-420.443:423:215:203:5828:6254 0/1:-502.967,0,-519.008:562:284:274:7703:7893 . . . . . . 0/1:-536.235,0,-747.476:693:373:315:8558:10954 0/1:-409.69,0,-602.504:557:310:241:6625:8917 . 0/1:-720.111,0,-743.136:778:387:385:10885:11241 . 0/1:-401.52,0,-479.882:474:248:218:6298:7160 . . 0/1:-400.895,0,-401.068:445:211:230:6234:6195 . 0/1:-439.796,0,-388.546:453:208:235:6645:6020 1/1:-1052.51,-112.599,0:467:15:448:12422:338 0/1:-555.847,0,-784.219:705:395:302:8797:11479 . . . . 0/1:-342.599,0,-383.081:409:205:202:5416:5787 . . . 0/1:-396.518,0,-669.284:563:324:230:6498:9733 . . 0/1:-365.887,0,-394.32:452:235:213:5875:6186 . . 0/1:-617.827,0,-522.434:607:282:317:9153:8071 . 1/1:-945.373,-84.9666,0:449:24:422:11425:556 0/1:-318.987,0,-540.897:448:264:181:5188:7747 . . 0/1:-534.106,0,-669.125:614:331:279:8223:9774 . . . 0/1:-432.4,0,-519.888:514:274:235:6801:7799 . . 0/1:-604.633,0,-787.605:738:398:331:9540:11595 . . . . 0/1:-575.152,0,-637.727:660:339:314:8839:9639 . . 0/1:-415.255,0,-566.703:454:254:198:6338:8094:254,198 . . 0/1:-478.854,0,-453.931:443:214:229:7016:6710:214,229 . . . 0/1:-428.257,0,-529.618:452:239:211:6463:7588:239,211 0/1:-467.923,0,-343.553:387:164:221:6763:5250:164,221 . . 0/1:-381.013,0,-381.546:375:184:190:5704:5739:184,190 0/1:-544.562,0,-477.322:479:228:251:7897:7251:228,251 . . 0/1:-451.418,0,-519.108:473:246:225:6824:7599:246,225 0/1:-387.602,0,-520.398:450:247:200:6064:7528:247,200 1/1:-1324.35,-128.081,0:507:12:493:15519:270:12,493 0/1:-470.642,0,-312.574:361:152:209:6646:4829:152,209 chr6 123599505 . A C 2494.38 . AB=0.487097;ABP=3.4586;AC=4;AF=0.5;AN=8;AO=151;CIGAR=1X;DP=1211;DPB=310;DPRA=0;EPP=3.02468;EPPR=10.9266;GTI=0;LEN=1;MEANALT=2;MQM=40.6358;MQMR=40.5;NS=1;NUMALT=1;ODDS=619.668;PAIRED=0.993377;PAIREDR=0.968354;PAO=0;PQA=0;PQR=0;PRO=0;QA=4317;QR=4627;RO=158;RPL=110;RPP=71.4764;RPPR=52.4869;RPR=41;RUN=1;SAF=66;SAP=8.2017;SAR=85;SF=0;SRF=64;SRP=15.3794;SRR=94;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0074;esp6500siv2_ea=0.0092;esp6500siv2_all=0.0074;esp6500siv2_ea=0.0092;1000g2015aug_all=0.00279553;avsnp147=rs55704802;Kaviar_AF=0.0025032;Kaviar_AC=387;Kaviar_AN=154602;ExAC_ALL=0.0070;ExAC_AFR=0.0017;ExAC_AMR=0.0123;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0159;ExAC_OTH=0.0087;ExAC_SAS=0.0005;CLNALLELEID=229393;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.9149;dpsi_zscore=-1.872;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0065;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0.0192;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0108;gnomAD_exome_OTH=0.0050;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0050;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0081;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-283.636,0,-309.649:310:158:151:4317:4627 . . 0/1:-219.441,0,-237.781:222:113:109:3286:3466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-339.669,0,-513.945:409:230:178:5322:7292 . . . . . . . . . . . . . . . . 0/1:-207.627,0,-316.327:270:153:116:3320:4534 . . . . . . . . . . . . . . . . . . . . . . . . chr6 123600171 . G A 4595.92 . AB=0.373596;ABP=101.824;AC=2;AF=0.5;AN=4;AO=266;CIGAR=1X;DP=1278;DPB=712;DPRA=0;EPP=18.8147;EPPR=11.8363;GTI=0;LEN=1;MEANALT=3;MQM=40.3797;MQMR=40.8871;NS=1;NUMALT=1;ODDS=1028.51;PAIRED=0.988722;PAIREDR=0.993088;PAO=0;PQA=0;PQR=0;PRO=0;QA=8130;QR=13420;RO=434;RPL=67;RPP=145.25;RPPR=179.85;RPR=199;RUN=1;SAF=186;SAP=94.7346;SAR=80;SF=0;SRF=301;SRP=144.226;SRR=133;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0666;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0666;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0708866;avsnp147=rs113656748;Kaviar_AF=0.0186738;Kaviar_AC=2887;Kaviar_AN=154602;ExAC_ALL=0.0196;ExAC_AFR=0.2271;ExAC_AMR=0.0103;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0103;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0669;dpsi_zscore=-1.509;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0163;gnomAD_exome_AFR=0.2273;gnomAD_exome_AMR=0.0106;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0631;gnomAD_genome_AFR=0.2192;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-488.747,0,-957.388:712:434:266:8130:13420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-506.523,0,-597.519:566:293:262:7776:8807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123653127 . A G 5847.22 . AB=0.491924;ABP=3.39613;AC=2;AF=0.5;AN=4;AO=335;CIGAR=1X;DP=1400;DPB=681;DPRA=0;EPP=154.748;EPPR=131.313;GTI=0;LEN=1;MEANALT=3;MQM=40.3433;MQMR=40;NS=1;NUMALT=1;ODDS=1308.6;PAIRED=0.976119;PAIREDR=0.969419;PAO=0;PQA=0;PQR=0;PRO=0;QA=9136;QR=9493;RO=327;RPL=170;RPP=3.17235;RPPR=4.92943;RPR=165;RUN=1;SAF=127;SAP=45.5387;SAR=208;SF=0,1;SRF=126;SRP=40.3636;SRR=201;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0033;esp6500siv2_ea=0.0047;esp6500siv2_all=0.0033;esp6500siv2_ea=0.0047;1000g2015aug_all=0.000798722;avsnp147=rs367768556;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6172;dpsi_zscore=1.243;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0052;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-595.929,0,-615.062:681:327:335:9136:9493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-691.918,0,-851.438:719:386:326:10359:12279:386,326 . . . . . . . . . . . . . chr6 123658776 . G T 9146.28 . AB=0.467192;ABP=13.6967;AC=1;AF=0.5;AN=2;AO=534;CIGAR=1X;DP=1143;DPB=1143;DPRA=0;EPP=344.997;EPPR=231.317;GTI=0;LEN=1;MEANALT=2;MQM=40.2266;MQMR=40.9421;NS=1;NUMALT=1;ODDS=2106.01;PAIRED=0.975655;PAIREDR=0.986755;PAO=0;PQA=0;PQR=0;PRO=0;QA=15070;QR=17818;RO=604;RPL=238;RPP=16.6898;RPPR=26.0193;RPR=296;RUN=1;SAF=334;SAP=76.0271;SAR=200;SF=0;SRF=412;SRP=177.016;SRR=192;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_006073:exon22:c.C1408A:p.L470M;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0792;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0792;esp6500siv2_ea=0.0008;1000g2015aug_all=0.113618;avsnp147=rs6569336;Kaviar_AF=0.0131111;Kaviar_AC=2027;Kaviar_AN=154602;ExAC_ALL=0.0579;ExAC_AFR=0.2978;ExAC_AMR=0.0317;ExAC_EAS=0.0057;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0.0319;ExAC_SAS=0.0618;CLNALLELEID=229395;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.019;SIFT_pred=D;Polyphen2_HDIV_score=0.61;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.219;Polyphen2_HVAR_pred=B;LRT_score=0.616;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=1.93;FATHMM_pred=T;PROVEAN_score=-0.16;PROVEAN_pred=N;VEST3_score=0.061;CADD_raw=1.948;CADD_phred=15.88;DANN_score=0.988;fathmm-MKL_coding_score=0.054;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.992;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.778;phyloP7way_vertebrate=-0.404;phyloP20way_mammalian=-0.097;phastCons7way_vertebrate=0.421;phastCons20way_mammalian=0.378;SiPhy_29way_logOdds=4.054;GDI_full_10282015=.;dpsi_max_tissue=3.5591;dpsi_zscore=2.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0249;gnomAD_exome_AFR=0.2761;gnomAD_exome_AMR=0.0127;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0013;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0571;gnomAD_genome_ALL=0.0814;gnomAD_genome_AFR=0.2823;gnomAD_genome_AMR=0.0180;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0175;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-968.35,0,-1215.23:1143:604:534:15070:17818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123658825 . G T 9836.45 . AB=0;ABP=0;AC=50;AF=1;AN=90;AO=1109;CIGAR=1X;DP=39571;DPB=1127;DPRA=0;EPP=397.754;EPPR=7.94546;GTI=0;LEN=1;MEANALT=3;MQM=40.4382;MQMR=40;NS=1;NUMALT=1;ODDS=1458.36;PAIRED=0.985573;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=32246;QR=229;RO=11;RPL=669;RPP=105.692;RPPR=12.6832;RPR=440;RUN=1;SAF=573;SAP=5.69086;SAR=536;SF=0,1;SRF=6;SRP=3.20771;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.1235;esp6500siv2_ea=0.1503;esp6500siv2_all=0.1235;esp6500siv2_ea=0.1503;1000g2015aug_all=0.29373;avsnp147=rs9401658;Kaviar_AF=0.0758722;Kaviar_AC=11730;Kaviar_AN=154602;ExAC_ALL=0.2749;ExAC_AFR=0.1003;ExAC_AMR=0.2889;ExAC_EAS=0.5743;ExAC_FIN=0.3452;ExAC_NFE=0.1911;ExAC_OTH=0.2723;ExAC_SAS=0.3765;CLNALLELEID=229396;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-7.3130;dpsi_zscore=-2.729;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2495;gnomAD_exome_AFR=0.0813;gnomAD_exome_AMR=0.2792;gnomAD_exome_ASJ=0.2009;gnomAD_exome_EAS=0.6061;gnomAD_exome_FIN=0.2702;gnomAD_exome_NFE=0.1684;gnomAD_exome_OTH=0.2194;gnomAD_exome_SAS=0.3802;gnomAD_genome_ALL=0.1945;gnomAD_genome_AFR=0.0847;gnomAD_genome_AMR=0.2885;gnomAD_genome_ASJ=0.1755;gnomAD_genome_EAS=0.6125;gnomAD_genome_FIN=0.2687;gnomAD_genome_NFE=0.1899;gnomAD_genome_OTH=0.2212;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2784.55,-316.811,0:1127:11:1109:32246:229 . . . . . . 0/1:-666.807,0,-879.656:816:441:369:10427:12874 . . . . . . 0/1:-1138.78,0,-1145.7:1206:597:606:17102:17294 0/1:-695.834,0,-697.703:731:364:362:10529:10560 . 0/1:-1139.75,0,-927.478:1081:502:575:16689:14353 0/1:-544.437,0,-597.716:599:307:287:8327:8896 . 0/1:-1207.9,0,-1279.83:1312:666:640:18437:19169 . . 0/1:-993.936,0,-1042.88:1104:563:538:15221:15710 . 0/1:-830.119,0,-950.153:936:496:437:12746:14205 . . 0/1:-645.383,0,-598.78:652:311:337:9625:9029 . 0/1:-1439.4,0,-1126.9:1332:597:725:21068:17439 0/1:-1000.3,0,-989.67:1055:519:527:15143:14873 . . 0/1:-1026.53,0,-860.596:1030:476:546:15264:13368 0/1:-283.728,0,-268.682:293:144:149:4252:4094 . . . . 0/1:-799.582,0,-709.496:791:371:418:11938:10847 0/1:-834.52,0,-954.02:910:473:431:12731:13967 . . . . . . 0/1:-1012.85,0,-1010.16:1033:504:523:15123:14997 0/1:-866.516,0,-807.902:880:413:461:13065:12229 . 0/1:-1196.62,0,-1180.05:1250:609:635:18017:17766 . 0/1:-656.271,0,-833.147:796:427:366:10270:12292 . . 0/1:-902.627,0,-498.516:732:289:439:12909:8272 . 0/1:-764.913,0,-810.113:839:427:408:11656:12220 1/1:-1916.84,-219.534,0:788:8:770:22255:204 0/1:-1009.26,0,-1077.82:1088:556:528:15302:16077 . . . . 0/1:-699.921,0,-654.167:738:351:384:10586:10094 . . . 0/1:-940.488,0,-879.439:935:449:482:14016:13253 . . 0/1:-613.936,0,-530.734:681:311:364:9461:8497 . . 0/1:-756.34,0,-901.373:867:464:396:11587:13310 . 1/1:-1934.94,-206.008,0:801:15:781:22648:399 0/1:-662.954,0,-852.581:818:444:369:10477:12625 . . 0/1:-1045.24,0,-1181.64:1140:596:538:15900:17409 . 0/1:-742.021,0,-804.636:850:436:409:11499:12186 . 0/1:-930.194,0,-778.409:899:414:477:13727:11948 . . 1/1:-2819.9,-280.973,0:1184:31:1142:33244:813 . . . . 0/1:-1089.35,0,-1041.2:1131:541:581:16354:15802 . . 0/1:-770.19,0,-764.207:731:359:368:11300:11252:359,368 . . 0/1:-684.05,0,-840.778:716:381:333:10359:12077:381,333 . . . 0/1:-932.406,0,-644.215:742:315:426:13255:9972:315,426 0/1:-611.356,0,-626.749:579:286:289:9029:9203:286,289 . . 0/1:-655.407,0,-729.023:654:342:312:9917:10608:342,312 0/1:-820.956,0,-950.507:821:432:386:12261:13716:432,386 . . 0/1:-924.983,0,-864.535:835:405:428:13442:12859:405,428 0/1:-877.001,0,-794.928:794:380:412:12852:11927:380,412 1/1:-1707.38,-154.832,0:654:15:634:20067:458:15,634 0/1:-627.229,0,-702.487:620:322:296:9253:10208:322,296 chr6 123673628 . C T 5022.02 . AB=0.487903;ABP=3.64073;AC=7;AF=0.5;AN=14;AO=242;CIGAR=1X;DP=4059;DPB=496;DPRA=0;EPP=33.1956;EPPR=74.51;GTI=0;LEN=1;MEANALT=3;MQM=37.5455;MQMR=38.7439;NS=1;NUMALT=1;ODDS=938.862;PAIRED=0.958678;PAIREDR=0.947154;PAO=0;PQA=0;PQR=0;PRO=0;QA=7015;QR=7340;RO=246;RPL=51;RPP=178.882;RPPR=223.371;RPR=191;RUN=1;SAF=167;SAP=78.958;SAR=75;SF=0,1;SRF=184;SRP=134.393;SRR=62;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_001251987:c.*42G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0399;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0399;1000g2015aug_all=0.00898562;avsnp147=rs17736964;Kaviar_AF=0.0264874;Kaviar_AC=4095;Kaviar_AN=154602;ExAC_ALL=0.0275;ExAC_AFR=0.0066;ExAC_AMR=0.0203;ExAC_EAS=0;ExAC_FIN=0.0298;ExAC_NFE=0.0404;ExAC_OTH=0.0318;ExAC_SAS=0.0062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3899;dpsi_zscore=1.010;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0278;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0188;gnomAD_exome_ASJ=0.0423;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0298;gnomAD_exome_NFE=0.0417;gnomAD_exome_OTH=0.0381;gnomAD_exome_SAS=0.0056;gnomAD_genome_ALL=0.0303;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0315;gnomAD_genome_NFE=0.0465;gnomAD_genome_OTH=0.0368;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-444.495,0,-465.169:496:246:242:7015:7340 . . . . . . . . . . 0/1:-816.147,0,-708.423:799:363:414:12337:11009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-461.977,0,-452.121:499:242:245:7168:7250 . . . . . . . . . . . . . . . . . . . 0/1:-544.691,0,-488.508:556:262:283:8518:7659 . . . . . . . . . . . 0/1:-418.015,0,-533.417:513:269:231:6754:8135 . . . . . . . . . . . . . . . 0/1:-638.224,0,-701.306:645:333:304:9641:10450:333,304 . . . . 0/1:-563.924,0,-553.245:551:269:274:8468:8502:269,274 . . . . . . . . chr6 123687241 . C G 6852.08 . AB=0.466744;ABP=11.2426;AC=2;AF=0.5;AN=4;AO=400;CIGAR=1X;DP=1556;DPB=857;DPRA=0;EPP=5.18177;EPPR=26.7767;GTI=0;LEN=1;MEANALT=3;MQM=39.1875;MQMR=39.9862;NS=1;NUMALT=1;ODDS=1738.42;PAIRED=0.98;PAIREDR=0.981609;PAO=0;PQA=0;PQR=0;PRO=0;QA=12136;QR=13047;RO=435;RPL=131;RPP=106.394;RPPR=99.4586;RPR=269;RUN=1;SAF=261;SAP=83.8108;SAR=139;SF=0;SRF=275;SRP=69.0281;SRR=160;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0814;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0814;esp6500siv2_ea=0.0011;1000g2015aug_all=0.11881;avsnp147=rs11964350;Kaviar_AF=0.0328262;Kaviar_AC=5075;Kaviar_AN=154602;ExAC_ALL=0.0381;ExAC_AFR=0.2928;ExAC_AMR=0.0142;ExAC_EAS=0.0883;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0251;ExAC_SAS=0.0306;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0050;dpsi_zscore=1.524;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.2855;gnomAD_exome_AMR=0.0122;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0.0817;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0175;gnomAD_exome_SAS=0.0285;gnomAD_genome_ALL=0.0826;gnomAD_genome_AFR=0.2739;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0742;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-781.993,0,-873.331:857:435:400:12136:13047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-644.179,0,-710.035:699:348:337:9900:10577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123687265 . T C 6925.83 . AB=0.475949;ABP=6.97942;AC=1;AF=0.5;AN=2;AO=376;CIGAR=1X;DP=790;DPB=790;DPRA=0;EPP=10.4949;EPPR=18.9925;GTI=0;LEN=1;MEANALT=3;MQM=38.9495;MQMR=40.365;NS=1;NUMALT=1;ODDS=1594.73;PAIRED=0.968085;PAIREDR=0.982968;PAO=0;PQA=0;PQR=0;PRO=0;QA=11342;QR=12582;RO=411;RPL=88;RPP=234.018;RPPR=153.909;RPR=288;RUN=1;SAF=210;SAP=14.1911;SAR=166;SF=0;SRF=215;SRP=4.9176;SRR=196;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=8.5e-05;esp6500siv2_ea=.;esp6500siv2_all=8.5e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs373855431;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=6.39e-05;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.65e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7788;dpsi_zscore=1.894;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.865e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.507e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-726.754,0,-847.118:790:411:376:11342:12582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123687288 . A C 16635.34 . AB=0;ABP=0;AC=216;AF=1;AN=230;AO=770;CIGAR=1X;DP=80437;DPB=784;DPRA=0;EPP=184.951;EPPR=24.725;GTI=0;LEN=1;MEANALT=2;MQM=40.2922;MQMR=36.4;NS=1;NUMALT=1;ODDS=1012.63;PAIRED=0.975325;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=23359;QR=153;RO=10;RPL=310;RPP=66.4624;RPPR=6.48466;RPR=460;RUN=1;SAF=360;SAP=10.0605;SAR=410;SF=0,1;SRF=3;SRP=6.48466;SRR=7;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon20:c.T1316G:p.I439S,TRDN:NM_006073:exon20:c.T1313G:p.I438S;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.9255;esp6500siv2_ea=0.9156;esp6500siv2_all=0.9255;esp6500siv2_ea=0.9156;1000g2015aug_all=0.939297;avsnp147=rs2873479;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;ExAC_ALL=0.9240;ExAC_AFR=0.9502;ExAC_AMR=0.9676;ExAC_EAS=0.9158;ExAC_FIN=0.9160;ExAC_NFE=0.9106;ExAC_OTH=0.9297;ExAC_SAS=0.9391;CLNALLELEID=229399;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.415;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.29;FATHMM_pred=T;PROVEAN_score=0.52;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=0.489;CADD_phred=7.345;DANN_score=0.689;fathmm-MKL_coding_score=0.535;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.929;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.68;phyloP7way_vertebrate=-1.954;phyloP20way_mammalian=-0.285;phastCons7way_vertebrate=0.910;phastCons20way_mammalian=0.177;SiPhy_29way_logOdds=7.740;GDI_full_10282015=.;dpsi_max_tissue=5.3329;dpsi_zscore=2.636;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9256;gnomAD_exome_AFR=0.9524;gnomAD_exome_AMR=0.9652;gnomAD_exome_ASJ=0.9084;gnomAD_exome_EAS=0.9147;gnomAD_exome_FIN=0.9263;gnomAD_exome_NFE=0.9089;gnomAD_exome_OTH=0.9278;gnomAD_exome_SAS=0.9403;gnomAD_genome_ALL=0.9286;gnomAD_genome_AFR=0.9485;gnomAD_genome_AMR=0.9665;gnomAD_genome_ASJ=0.8974;gnomAD_genome_EAS=0.9197;gnomAD_genome_FIN=0.9292;gnomAD_genome_NFE=0.9157;gnomAD_genome_OTH=0.9389;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2011.23,-221.138,0:784:10:770:23359:153 1/1:-2465.77,-278.303,0:981:10:963:28906:175 1/1:-1971.53,-208.951,0:769:15:751:23194:275 0/1:-477.517,0,-618.828:545:288:254:7442:8990 1/1:-1978.45,-217.873,0:781:12:767:23168:199 1/1:-2295.69,-245.156,0:889:16:870:26735:277 1/1:-1862.07,-202.374,0:736:11:722:21979:233 1/1:-1995.84,-222.084,0:773:7:763:23105:133 1/1:-1624.68,-175.41,0:624:8:610:18839:119 1/1:-2332.05,-254.051,0:904:13:887:27301:200 1/1:-1732.25,-193.932,0:686:9:675:20229:166 1/1:-1770.61,-196.246,0:694:11:682:20624:161 1/1:-1940.08,-211.249,0:753:9:743:22580:170 1/1:-1521.29,-168.194,0:625:15:607:18123:239 1/1:-2044.48,-232.177,0:792:5:785:23929:70 1/1:-2627.32,-278.663,0:1001:15:983:30462:245 1/1:-1762.53,-188.936,0:706:15:687:20818:250 1/1:-3610.05,-395.313,0:1410:22:1383:42073:326 0/1:-1002.02,0,-938.3:925:446:472:14780:14064 1/1:-1511.83,-170.185,0:591:5:581:17541:70 0/1:-626.385,0,-666.391:634:320:312:9433:9813 1/1:-2738.87,-299.9,0:1047:11:1033:31936:168 1/1:-1431.51,-156.924,0:569:10:557:16732:169 1/1:-2290.55,-244.406,0:895:13:878:26795:267 1/1:-2400.7,-261.367,0:936:12:919:28037:219 1/1:-1853.78,-202.669,0:747:13:731:21796:240 1/1:-1844.87,-202.819,0:715:8:701:21417:125 1/1:-2442.48,-263.278,0:954:17:930:28512:264 0/1:-704.585,0,-611.149:659:302:355:10491:9378 1/1:-1404.88,-152.654,0:541:8:528:16396:112 1/1:-1954.85,-214.777,0:746:7:736:22672:124 1/1:-2835.02,-302.748,0:1111:18:1090:33291:370 1/1:-1909.7,-211.145,0:774:13:757:22320:264 1/1:-964.001,-104.967,0:377:5:369:11318:92 1/1:-2413.25,-264.917,0:925:9:914:28152:144 1/1:-2206.88,-228.261,0:860:18:840:25852:345 1/1:-976.767,-106.775,0:383:6:377:11408:106 1/1:-2562.27,-277.778,0:990:13:972:30062:211 1/1:-2066.19,-210.301,0:817:20:792:24319:383 1/1:-1082.23,-114.94,0:423:6:414:12652:137 1/1:-2740.55,-294.706,0:1075:18:1052:32053:328 0/1:-771.531,0,-617.94:683:306:374:11290:9551 1/1:-1766.89,-195.211,0:689:8:676:20496:119 1/1:-2280.09,-251.52,0:875:6:868:26514:168 1/1:-3273.75,-352.357,0:1269:20:1244:38128:323 1/1:-2134.61,-236.239,0:823:7:812:24721:118 0/1:-795.164,0,-803.238:771:381:387:11888:11985 1/1:-1165.15,-127.804,0:440:3:434:13603:42 1/1:-1782.57,-196.847,0:678:3:670:20715:77 1/1:-2478.39,-266.37,0:957:14:936:28962:244 1/1:-1921.25,-209.53,0:743:8:733:22358:152 1/1:-2274.4,-256.032,0:898:10:883:26635:165 1/1:-2702.96,-296.616,0:1059:15:1040:31519:250 1/1:-2117.35,-226.172,0:837:15:816:24856:292 1/1:-1713.76,-193.146,0:683:8:673:20184:138 1/1:-1585.66,-177.411,0:615:6:606:18346:84 1/1:-1986.66,-220.05,0:773:10:759:23179:140 1/1:-1494.26,-159.023,0:590:9:577:17614:195 0/1:-533.06,0,-714.297:615:330:280:8340:10428 1/1:-1514.41,-162.447,0:573:7:565:17553:116 1/1:-1523.86,-166.93,0:614:14:596:18022:210 1/1:-2568.42,-273.941,0:997:17:976:30027:294 1/1:-1674.12,-183.051,0:648:8:635:19480:125 1/1:-1775.09,-200.943,0:687:5:681:20544:70 1/1:-2658.64,-288.441,0:1032:12:1016:30845:256 0/1:-707.82,0,-886.406:767:408:354:10963:12919 1/1:-1593.7,-180.434,0:620:4:615:18542:74 1/1:-2284.62,-248.081,0:872:10:860:26602:162 1/1:-1365.36,-150.748,0:510:2:507:15839:28 1/1:-2084.25,-233.058,0:815:8:797:24256:119 1/1:-2091.88,-224.473,0:830:16:813:24545:310 1/1:-2651.91,-291.446,0:994:5:984:30615:70 1/1:-2682.45,-291.09,0:1036:14:1021:31310:271 1/1:-1454.59,-163.871,0:605:13:590:17209:233 1/1:-1921.5,-214.83,0:730:4:723:22258:56 1/1:-2177.34,-243.948,0:850:10:835:25630:140 1/1:-1971.63,-214.384,0:783:15:764:23108:232 1/1:-2513.72,-258.418,0:990:25:961:29583:490 1/1:-1677.52,-183.632,0:655:8:646:19600:156 1/1:-1703.6,-189.184,0:672:9:661:20057:139 0/1:-849.907,0,-866.141:827:417:406:12835:12941 1/1:-2079.27,-228.965,0:830:13:810:24283:218 1/1:-2196.53,-245.231,0:854:7:843:25561:138 1/1:-1885.23,-193.011,0:743:16:724:22047:345 1/1:-1567.93,-169.397,0:640:16:620:18471:270 1/1:-1636.33,-176.688,0:642:12:629:19161:188 1/1:-1637.14,-174.46,0:642:14:625:19177:253 1/1:-2073.71,-211.309,0:801:18:782:24442:343 1/1:-1385.88,-152.646,0:530:5:523:16043:70 1/1:-2327.25,-238.661,0:901:17:883:27268:375 1/1:-2876.04,-319.736,0:1087:5:1076:33242:70 0/1:-676.94,0,-807.519:719:377:339:10286:11845 1/1:-2373.19,-260.794,0:925:11:908:27734:179 1/1:-1820.42,-200.656,0:713:11:696:21264:154 1/1:-2373.92,-267.142,0:921:9:910:27762:126 . 0/1:-268.14,0,-370.257:291:161:128:4081:5328:161,128 1/1:-895.129,-93.3572,0:328:4:321:10367:78:4,321 1/1:-1057.15,-107.031,0:383:4:377:12303:91:4,377 1/1:-420.598,-39.182,0:155:3:152:4940:82:3,152 1/1:-755.085,-80.3772,0:279:4:274:8734:56:4,274 1/1:-1116.58,-111.727,0:411:8:402:13091:137:8,402 1/1:-909.519,-93.8504,0:338:7:331:10494:118:7,331 1/1:-923.203,-88.2287,0:345:9:336:10790:173:9,336 1/1:-888.929,-88.0081,0:325:5:319:10331:106:5,319 1/1:-643.434,-56.7162,0:255:11:243:7683:234:11,243 0/1:-483.23,0,-396.179:402:182:218:6926:5914:182,218 1/1:-771.697,-79.4412,0:279:4:275:8843:56:4,275 0/1:-311.884,0,-319.1:302:154:146:4648:4753:154,146 0/1:-362.132,0,-341.781:332:158:171:5299:5105:158,171 1/1:-747.915,-79.6399,0:278:3:272:8756:42:3,272 1/1:-787.09,-79.8218,0:296:5:290:9183:110:5,290 1/1:-1021.48,-108.067,0:371:2:367:11784:35:2,367 1/1:-844.539,-89.1372,0:316:3:312:9769:64:3,312 1/1:-819.458,-83.5535,0:304:5:297:9558:83:5,297 1/1:-651.847,-66.6064,0:247:5:239:7604:77:5,239 chr6 123687403 . A G 3786.98 . AB=0.412698;ABP=36.3751;AC=1;AF=0.5;AN=2;AO=208;CIGAR=1X;DP=504;DPB=504;DPRA=0;EPP=29.1097;EPPR=37.6341;GTI=0;LEN=1;MEANALT=3;MQM=39.7356;MQMR=40.1276;NS=1;NUMALT=1;ODDS=871.985;PAIRED=0.980769;PAIREDR=0.996552;PAO=0;PQA=0;PQR=0;PRO=0;QA=6414;QR=8917;RO=290;RPL=140;RPP=57.1301;RPPR=53.3585;RPR=68;RUN=1;SAF=77;SAP=33.4527;SAR=131;SF=0;SRF=115;SRP=29.9665;SRR=175;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8113;dpsi_zscore=-1.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-400.042,0,-614.036:504:290:208:6414:8917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123696766 . G T 9042.11 . AB=0.494253;ABP=3.25989;AC=31;AF=0.5;AN=56;AO=430;CIGAR=1X;DP=21982;DPB=870;DPRA=0;EPP=78.1735;EPPR=102.977;GTI=0;LEN=1;MEANALT=3;MQM=41.1512;MQMR=41.29;NS=1;NUMALT=1;ODDS=1996.11;PAIRED=0.986047;PAIREDR=0.995434;PAO=0;PQA=0;PQR=0;PRO=0;QA=13120;QR=13774;RO=438;RPL=245;RPP=21.1901;RPPR=46.8165;RPR=185;RUN=1;SAF=249;SAP=26.3612;SAR=181;SF=0,1;SRF=254;SRP=27.303;SRR=184;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon19:c.C1260A:p.D420E,TRDN:NM_006073:exon19:c.C1257A:p.D419E;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.1612;esp6500siv2_ea=0.1188;esp6500siv2_all=0.1612;esp6500siv2_ea=0.1188;1000g2015aug_all=0.147364;avsnp147=rs17737379;Kaviar_AF=0.0677352;Kaviar_AC=10472;Kaviar_AN=154602;ExAC_ALL=0.1374;ExAC_AFR=0.3015;ExAC_AMR=0.1266;ExAC_EAS=0.1124;ExAC_FIN=0.1567;ExAC_NFE=0.1474;ExAC_OTH=0.168;ExAC_SAS=0.0727;CLNALLELEID=229401;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.327;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=2.57;FATHMM_pred=T;PROVEAN_score=0.22;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=0.783;CADD_phred=9.356;DANN_score=0.425;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.14;phyloP7way_vertebrate=0.086;phyloP20way_mammalian=-0.339;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=9.685;GDI_full_10282015=.;dpsi_max_tissue=-3.9691;dpsi_zscore=-2.342;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1137;gnomAD_exome_AFR=0.2582;gnomAD_exome_AMR=0.0999;gnomAD_exome_ASJ=0.1308;gnomAD_exome_EAS=0.0520;gnomAD_exome_FIN=0.1466;gnomAD_exome_NFE=0.1186;gnomAD_exome_OTH=0.1112;gnomAD_exome_SAS=0.0600;gnomAD_genome_ALL=0.1740;gnomAD_genome_AFR=0.2922;gnomAD_genome_AMR=0.1262;gnomAD_genome_ASJ=0.1424;gnomAD_genome_EAS=0.0620;gnomAD_genome_FIN=0.1418;gnomAD_genome_NFE=0.1296;gnomAD_genome_OTH=0.1541;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-885.79,0,-945.673:870:438:430:13120:13774 . . . . . 0/1:-781.918,0,-898.254:829:428:395:11880:13061 0/1:-704.935,0,-914.429:795:419:372:10923:13194 . . . 0/1:-954.46,0,-887.501:898:429:466:14055:13223 . 0/1:-717.88,0,-908.708:804:430:366:11057:13182 . . . . 0/1:-838.932,0,-909.928:854:432:419:12616:13390 . . . 1/1:-1774.14,-172.489,0:708:17:686:21080:450 . . 0/1:-825.276,0,-719.736:774:351:415:12199:10903 . 0/1:-1078.48,0,-944.972:967:453:509:15645:14226 . . . . . 0/1:-341.097,0,-389.239:363:185:177:5165:5695 . . . . . . 0/1:-966.592,0,-1035.05:976:490:479:14576:15163 . . 1/1:-2094.57,-198.188,0:845:21:822:24727:628 . 0/1:-911.015,0,-803.009:845:386:453:13334:12040 . 0/1:-422.907,0,-498.601:462:247:214:6400:7410 0/1:-806.133,0,-642.116:679:306:369:11494:9615 . . . 0/1:-1197.44,0,-1015.46:1074:493:578:17491:15272 0/1:-912.915,0,-912.439:879:432:441:13515:13421 . 0/1:-715.554,0,-764.146:713:365:345:10641:11188 . . . . . 0/1:-1087.34,0,-1170.12:1069:546:520:16275:17044 . . . . . . . . . 0/1:-1002.43,0,-1044.77:983:491:485:14819:15265 . . . . . . . 0/1:-624.566,0,-933.314:777:431:340:9904:13447 . . . . 0/1:-842.177,0,-685.08:735:332:402:12206:10461 . . 0/1:-892.567,0,-1057.84:937:492:439:13472:15343 . . . . . . . . 0/1:-635.517,0,-536.804:530:241:287:9161:7961:241,287 . 0/1:-689.116,0,-831.931:689:364:324:10351:11912:364,324 . 0/1:-600.932,0,-545.955:532:252:277:8669:8118:252,277 1/1:-1931.87,-185.271,0:734:11:717:22550:384:11,717 . . . . 0/1:-700.726,0,-741.625:661:331:325:10304:10808:331,325 . . . . . . . . . chr6 123698790 . TGT TT 3795.94 . AB=0.423913;ABP=35.3936;AC=2;AF=0.5;AN=4;AO=273;CIGAR=1M1D1M;DP=1014;DPB=563;DPRA=0;EPP=13.8995;EPPR=13.8002;GTI=0;LEN=1;MEANALT=13;MQM=39.326;MQMR=40.6025;NS=1;NUMALT=1;ODDS=952.865;PAIRED=0.992674;PAIREDR=0.981366;PAO=1;PQA=14;PQR=472;PRO=16;QA=7126;QR=9791;RO=322;RPL=126;RPP=6.51806;RPPR=3.4419;RPR=147;RUN=1;SAF=181;SAP=66.0148;SAR=92;SF=0,1;SRF=214;SRP=78.7825;SRR=108;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=8.6e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.6e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000599042;avsnp147=rs557224862;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-429.966,0,-706.682:644:322:273:7126:9791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-229.329,0,-435.587:370:198:148:3924:6166:198,148 . . . . . chr6 123699019 . A C 4092.82 . AB=0.430796;ABP=27.0543;AC=23;AF=0.5;AN=44;AO=249;CIGAR=1X;DP=11873;DPB=578;DPRA=0;EPP=3.71668;EPPR=11.9161;GTI=0;LEN=1;MEANALT=3;MQM=40.6225;MQMR=40.4304;NS=1;NUMALT=1;ODDS=942.073;PAIRED=0.987952;PAIREDR=0.984177;PAO=0;PQA=0;PQR=0;PRO=0;QA=6802;QR=8977;RO=316;RPL=139;RPP=10.3445;RPPR=3.99983;RPR=110;RUN=1;SAF=87;SAP=52.0646;SAR=162;SF=0,1;SRF=116;SRP=51.4974;SRR=200;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.T1214G:p.V405G,TRDN:NM_006073:exon17:c.T1211G:p.V404G;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.1587;esp6500siv2_ea=0.1454;esp6500siv2_all=0.1587;esp6500siv2_ea=0.1454;1000g2015aug_all=0.169129;avsnp147=rs28494009;Kaviar_AF=0.133937;Kaviar_AC=20707;Kaviar_AN=154602;ExAC_ALL=0.2004;ExAC_AFR=0.2365;ExAC_AMR=0.1253;ExAC_EAS=0.1025;ExAC_FIN=0.2396;ExAC_NFE=0.1831;ExAC_OTH=0.1910;ExAC_SAS=0.2570;CLNALLELEID=229402;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.139;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.67;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_pred=N;VEST3_score=0.118;CADD_raw=2.548;CADD_phred=19.78;DANN_score=0.988;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.030;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-0.351;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.982;phastCons20way_mammalian=0.956;SiPhy_29way_logOdds=3.708;GDI_full_10282015=.;dpsi_max_tissue=-13.5817;dpsi_zscore=-3.047;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1535;gnomAD_exome_AFR=0.2047;gnomAD_exome_AMR=0.0838;gnomAD_exome_ASJ=0.0833;gnomAD_exome_EAS=0.0833;gnomAD_exome_FIN=0.1971;gnomAD_exome_NFE=0.1525;gnomAD_exome_OTH=0.1298;gnomAD_exome_SAS=0.2374;gnomAD_genome_ALL=0.1742;gnomAD_genome_AFR=0.2002;gnomAD_genome_AMR=0.0863;gnomAD_genome_ASJ=0.0667;gnomAD_genome_EAS=0.0751;gnomAD_genome_FIN=0.2076;gnomAD_genome_NFE=0.1686;gnomAD_genome_OTH=0.1816;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-423.992,0,-612.522:578:316:249:6802:8977 0/1:-364.334,0,-491.026:448:239:206:5755:7146 0/1:-562.801,0,-727.048:682:372:302:8774:10745 . . . 0/1:-349.477,0,-421.947:432:221:205:5449:6299 . . . . . 0/1:-369.88,0,-490.289:468:247:215:5790:7303 0/1:-524.568,0,-684.082:657:344:300:8268:10118 . . . . . . . . . . . 0/1:-530.139,0,-819.602:725:412:305:8521:11876 . . . . . . . . . 0/1:-546.286,0,-656.639:660:344:307:8507:9857 0/1:-420.472,0,-573.982:530:283:241:6580:8503 0/1:-179.494,0,-255.925:235:127:104:2898:3716 . . . . 0/1:-604.02,0,-863.043:810:436:352:9601:12767 . . . . . . 0/1:-434.821,0,-749.1:644:364:265:7196:10813 . . . . 0/1:-406.147,0,-577.487:535:289:243:6470:8483 . . . . . . . . . . . . . . . 0/1:-452.127,0,-724.213:634:354:270:7411:10590 . . 0/1:-500.749,0,-706.393:655:352:289:7969:10466 . . . . . 1/1:-1253.26,-117.555,0:558:28:519:14932:550 . . . 0/1:-356.123,0,-430.266:420:224:189:5492:6470 . 0/1:-426.405,0,-822.505:656:395:254:7120:11723 . . . . 0/1:-479.035,0,-725.359:634:360:267:7620:10612 0/1:-428.379,0,-429.931:458:214:236:6531:6473 . . . . . . . . . 0/1:-191.707,0,-338.345:250:146:99:3071:4817:146,99 . . . . . . 0/1:-177.534,0,-239.115:204:112:89:2801:3465:112,89 . . . . . chr6 123699042 . T C 5736.34 . AB=0.528363;ABP=7.32157;AC=83;AF=0.5;AN=138;AO=326;CIGAR=1X;DP=33930;DPB=617;DPRA=0;EPP=77.8528;EPPR=22.5379;GTI=0;LEN=1;MEANALT=2;MQM=40.9049;MQMR=40.3561;NS=1;NUMALT=1;ODDS=1227.35;PAIRED=0.990798;PAIREDR=0.989209;PAO=0;PQA=0;PQR=0;PRO=0;QA=9138;QR=8562;RO=278;RPL=148;RPP=9.00516;RPPR=3.04154;RPR=178;RUN=1;SAF=98;SAP=115.58;SAR=228;SF=0,1;SRF=74;SRP=135.017;SRR=204;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.A1191G:p.K397K,TRDN:NM_006073:exon17:c.A1188G:p.K396K;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.3544;esp6500siv2_ea=0.3635;esp6500siv2_all=0.3544;esp6500siv2_ea=0.3635;1000g2015aug_all=0.272165;avsnp147=rs6901953;Kaviar_AF=0.244874;Kaviar_AC=37858;Kaviar_AN=154602;ExAC_ALL=0.3423;ExAC_AFR=0.3792;ExAC_AMR=0.4736;ExAC_EAS=0.1667;ExAC_FIN=0.3201;ExAC_NFE=0.4311;ExAC_OTH=0.3264;ExAC_SAS=0.1967;CLNALLELEID=229404;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.9217;dpsi_zscore=1.943;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3335;gnomAD_exome_AFR=0.3472;gnomAD_exome_AMR=0.4134;gnomAD_exome_ASJ=0.3953;gnomAD_exome_EAS=0.1195;gnomAD_exome_FIN=0.2912;gnomAD_exome_NFE=0.3904;gnomAD_exome_OTH=0.3776;gnomAD_exome_SAS=0.1825;gnomAD_genome_ALL=0.3340;gnomAD_genome_AFR=0.3411;gnomAD_genome_AMR=0.4103;gnomAD_genome_ASJ=0.4371;gnomAD_genome_EAS=0.1139;gnomAD_genome_FIN=0.2780;gnomAD_genome_NFE=0.3618;gnomAD_genome_OTH=0.3102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-615.35,0,-556.947:617:278:326:9138:8562 . . 1/1:-1390.97,-161.437,0:573:3:552:16176:64 0/1:-495.577,0,-438.041:489:234:247:7431:6761 0/1:-579.608,0,-377.159:487:190:281:8280:6033 . 1/1:-1640.31,-179.151,0:688:10:657:19115:264 1/1:-1241.25,-122.384,0:528:11:503:14658:366 0/1:-576.369,0,-656.466:623:314:300:8717:9727 0/1:-498.242,0,-563.989:537:265:258:7550:8321 0/1:-408.168,0,-549.632:501:266:225:6379:8079 0/1:-408.862,0,-510.178:460:242:210:6298:7503 . 0/1:-348.506,0,-513.529:445:241:194:5511:7445 0/1:-885.279,0,-900.319:904:424:449:13285:13398 . 0/1:-332.317,0,-456.699:411:214:186:5303:6731 . 0/1:-710.712,0,-681.16:695:329:355:10469:10172 . 1/1:-1466.69,-158.834,0:609:7:578:17088:195 0/1:-572.585,0,-663.597:633:322:301:8738:9833 0/1:-459.486,0,-483.32:490:233:239:6926:7164 0/1:-548.69,0,-468.791:530:244:275:8112:7255 . 0/1:-399.123,0,-542.266:459:243:204:6164:7764 0/1:-403.806,0,-363.855:390:182:202:5896:5573 0/1:-620.223,0,-477.91:564:240:307:9017:7473 0/1:-660.831,0,-816.153:755:390:347:10192:12059 1/1:-1395.81,-154.93,0:600:11:571:16255:265 0/1:-247.322,0,-217.923:234:104:123:3657:3332 0/1:-636.278,0,-628.957:641:303:318:9495:9428 0/1:-664.892,0,-548.275:606:270:323:9686:8441 0/1:-226.762,0,-318.633:282:148:126:3588:4585 . . 0/1:-246.734,0,-235.473:240:114:122:3630:3583 . . 0/1:-529.591,0,-532.399:543:257:277:7936:8042 . 0/1:-773.031,0,-772.595:788:370:395:11595:11664 0/1:-591.396,0,-608.086:622:292:307:8975:9157 0/1:-454.618,0,-577.124:512:269:230:6890:8345 0/1:-239.961,0,-336.519:294:155:131:3738:4842 . 0/1:-664.507,0,-682.442:673:323:336:9978:10161 0/1:-581.046,0,-675.357:622:316:290:8867:9779 . . 0/1:-459.454,0,-617.682:536:279:247:7139:8945 0/1:-531.98,0,-443.535:507:218:272:7854:6879 . 0/1:-541.977,0,-521.352:542:262:268:8072:7891 0/1:-375.285,0,-410.838:395:193:195:5782:6096 0/1:-444.516,0,-384.123:433:195:225:6705:5874 . . . . 1/1:-990.951,-93.6813,0:424:12:393:11742:340 1/1:-1573.29,-143.917,0:667:19:623:18682:578 0/1:-491.594,0,-585.213:541:275:250:7477:8564 0/1:-399.956,0,-399.742:419:198:210:6025:6117 0/1:-633.436,0,-492.529:576:245:318:9219:7651 1/1:-889.145,-98.5846,0:366:3:354:10292:100 0/1:-492.469,0,-621.217:579:293:270:7657:9174 . . 0/1:-665.911,0,-620.921:663:311:339:9961:9571 0/1:-310.227,0,-429.801:408:215:182:5017:6335 1/1:-1320.43,-144.493,0:559:5:519:15355:150 0/1:-646.616,0,-706.341:687:342:332:9872:10582 0/1:-467.995,0,-606.703:557:288:251:7231:8923 . . . 0/1:-528.471,0,-696.961:606:324:271:8208:10148 . . 0/1:-551.356,0,-514.086:550:253:284:8299:7858 . . 0/1:-392.688,0,-574.436:482:262:209:6192:8209 . 1/1:-817.295,-95.5993,0:355:3:336:9492:82 . 1/1:-1770.92,-179.353,0:757:17:725:20927:500 0/1:-462.423,0,-526.818:505:253:238:7013:7804 0/1:-643.633,0,-630.445:632:297:322:9578:9485 . . . . . 0/1:-277.283,0,-320.882:288:152:132:4140:4774:152,132 1/1:-344.152,-29.6461,0:130:3:126:4074:104:3,126 0/1:-204.706,0,-253.328:218:116:99:3076:3716:116,99 . 1/1:-617.105,-53.4909,0:243:6:235:7379:216:6,235 0/1:-311.713,0,-217.07:248:107:140:4446:3402:107,140 . 0/1:-123.606,0,-168.507:139:78:59:1888:2449:78,59 . . . . 0/1:-191.677,0,-191.002:190:93:96:2909:2883:93,96 1/1:-637.637,-62.0813,0:247:4:238:7464:122:4,238 0/1:-293.639,0,-252.648:262:123:136:4303:3810:123,136 . . 0/1:-164.993,0,-193.475:174:89:82:2539:2830:89,82 chr6 123702464 . T A 3901.71 . AB=0.493617;ABP=3.17663;AC=1;AF=0.5;AN=2;AO=232;CIGAR=1X;DP=470;DPB=470;DPRA=0;EPP=57.0725;EPPR=47.0034;GTI=0;LEN=1;MEANALT=3;MQM=38.9612;MQMR=39.6681;NS=1;NUMALT=1;ODDS=898.402;PAIRED=0.974138;PAIREDR=0.982979;PAO=0;PQA=0;PQR=0;PRO=0;QA=6565;QR=6698;RO=235;RPL=73;RPP=72.2353;RPPR=35.1758;RPR=159;RUN=1;SAF=151;SAP=48.8733;SAR=81;SF=0;SRF=167;SRP=93.5746;SRR=68;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6726;dpsi_zscore=-1.786;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.244e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.708e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-414.631,0,-432.455:470:235:232:6565:6698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123702499 . G A 4429.60 . AB=0;ABP=0;AC=78;AF=1;AN=134;AO=591;CIGAR=1X;DP=29032;DPB=614;DPRA=0;EPP=110.449;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=38.5922;MQMR=42;NS=1;NUMALT=1;ODDS=806.042;PAIRED=0.962775;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=16521;QR=42;RO=3;RPL=175;RPP=216.413;RPPR=3.73412;RPR=416;RUN=1;SAF=383;SAP=115.534;SAR=208;SF=0,1;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.3035;esp6500siv2_ea=0.3270;esp6500siv2_all=0.3035;esp6500siv2_ea=0.3270;1000g2015aug_all=0.476238;avsnp147=rs3813328;Kaviar_AF=0.0020116;Kaviar_AC=311;Kaviar_AN=154602;ExAC_ALL=0.4735;ExAC_AFR=0.3100;ExAC_AMR=0.4990;ExAC_EAS=0.7267;ExAC_FIN=0.4913;ExAC_NFE=0.3708;ExAC_OTH=0.4233;ExAC_SAS=0.6483;CLNALLELEID=252069;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-8.5495;dpsi_zscore=-2.823;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4145;gnomAD_exome_AFR=0.2559;gnomAD_exome_AMR=0.3741;gnomAD_exome_ASJ=0.2760;gnomAD_exome_EAS=0.7259;gnomAD_exome_FIN=0.4666;gnomAD_exome_NFE=0.3220;gnomAD_exome_OTH=0.3529;gnomAD_exome_SAS=0.6531;gnomAD_genome_ALL=0.3687;gnomAD_genome_AFR=0.2573;gnomAD_genome_AMR=0.3777;gnomAD_genome_ASJ=0.2285;gnomAD_genome_EAS=0.7457;gnomAD_genome_FIN=0.4902;gnomAD_genome_NFE=0.3635;gnomAD_genome_OTH=0.4199;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1413.62,-175.034,0:614:3:591:16521:42 0/1:-512.961,0,-548.293:625:301:297:8173:8402 0/1:-288.356,0,-342.31:365:191:161:4639:5245 0/1:-432.63,0,-456.831:507:237:253:6841:6912 . . . 1/1:-1058.94,-112.388,0:471:12:453:12755:323 . . . 0/1:-432.343,0,-402.066:457:216:231:6683:6194 . 0/1:-410.9,0,-385.262:452:218:221:6280:6034 1/1:-1563.03,-172.717,0:678:12:649:18526:310 0/1:-340.438,0,-401.114:428:214:190:5400:6048 . 0/1:-560.861,0,-506.58:596:277:299:8590:7773 0/1:-289.668,0,-341.42:339:174:157:4528:5168 . 0/1:-652.721,0,-590.75:691:313:352:9925:9204 . . 0/1:-473.406,0,-639.706:605:322:265:7554:9362 . 0/1:-423.361,0,-483.992:523:265:235:6596:7330 0/1:-611.638,0,-507.783:630:280:315:9163:7962 . 0/1:-320.486,0,-333.697:362:172:172:4914:5036 . 0/1:-606.681,0,-689.661:737:359:347:9603:10366 . . 0/1:-627.949,0,-464.054:589:261:314:9327:7337 0/1:-490.762,0,-573:619:309:285:7848:8688 . 0/1:-537.111,0,-621.632:662:334:304:8530:9484 0/1:-557.296,0,-445.306:541:237:292:8282:7046 0/1:-259.34,0,-281.202:308:155:140:4023:4287 . 0/1:-354.739,0,-443.772:447:225:199:5584:6747 0/1:-536.718,0,-404.9:529:228:285:7949:6446 . 0/1:-730.928,0,-574.382:730:324:384:10968:9091 . . . 0/1:-402.082,0,-375.768:437:201:222:6139:5833 0/1:-610.026,0,-528.671:655:299:339:9336:8309 0/1:-409.268,0,-473.001:502:248:235:6503:7113 1/1:-1162.25,-136.149,0:507:5:490:13761:145 0/1:-608.086,0,-611.101:665:314:329:9345:9345 . 0/1:-403.717,0,-428.684:480:235:230:6292:6611 0/1:-318.059,0,-362.688:382:195:178:5050:5542 0/1:-454.224,0,-516.328:548:282:251:7259:7890 0/1:-362.055,0,-347.62:402:190:199:5624:5336 . 0/1:-340.874,0,-390.693:417:208:195:5367:5987 1/1:-786.154,-86.3357,0:350:6:333:9463:177 0/1:-519.76,0,-500.111:575:273:275:7992:7749 . . . . 0/1:-327.708,0,-278.338:347:155:184:5082:4354 . . . 0/1:-450.835,0,-569.996:565:292:248:7086:8452 . 0/1:-500.416,0,-460.439:536:252:267:7638:7155 0/1:-230.772,0,-313.218:350:175:157:4053:4797 . 0/1:-474.337,0,-538.951:598:292:284:7653:8249 0/1:-496.262,0,-465.462:541:260:265:7607:7354 . 1/1:-853.808,-93.9355,0:380:6:358:10059:186 0/1:-217.125,0,-413.652:353:204:136:3678:6008 . 1/1:-1206.79,-136.98,0:521:9:502:14315:201 0/1:-392.944,0,-547.364:547:290:238:6546:8102 . 0/1:-331.632,0,-551.4:523:286:212:5730:8105 0/1:-341.317,0,-444.332:444:228:193:5408:6625 0/1:-407.934,0,-376.851:432:206:214:6281:5813 0/1:-491.125,0,-571.513:621:310:277:7768:8726 . 1/1:-1296.99,-151.882,0:549:3:531:15241:100 . . 0/1:-426.798,0,-627.22:564:319:231:6813:9094 0/1:-448.163,0,-404.081:468:216:241:6834:6229 0/1:-533.411,0,-531.927:594:287:287:8244:8232 . . 1/1:-152.819,-11.3847,0:67:3:60:1868:86:3,60 . . . . . 0/1:-60.4873,0,-60.0568:64:32:29:908:892:32,29 1/1:-126.971,-13.5848,0:53:1:51:1504:32:1,51 0/1:-26.7533,0,-45.7662:38:22:14:427:648:22,14 . 0/1:-40.6782,0,-61.5855:53:28:24:643:875:28,24 0/1:-45.8103,0,-55.8883:55:28:26:758:816:28,26 0/1:-42.6754,0,-107.055:76:50:24:735:1472:50,24 0/1:-51.8804,0,-63.0703:60:31:28:812:973:31,28 . 0/1:-52.314,0,-81.2412:68:41:27:822:1246:41,27 0/1:-39.8242,0,-52.5944:48:26:22:620:763:26,22 1/1:-129.025,-14.4494,0:48:0:48:1474:0:0,48 0/1:-37.8733,0,-48.105:44:25:19:594:731:25,19 chr6 123702599 . A G 3978.16 . AB=0.475634;ABP=5.65586;AC=2;AF=0.5;AN=4;AO=244;CIGAR=1X;DP=1051;DPB=513;DPRA=0;EPP=25.259;EPPR=9.50814;GTI=0;LEN=1;MEANALT=3;MQM=39.4221;MQMR=39.416;NS=1;NUMALT=1;ODDS=1012.06;PAIRED=0.979508;PAIREDR=0.980916;PAO=0;PQA=0;PQR=0;PRO=0;QA=7032;QR=8006;RO=262;RPL=154;RPP=39.4626;RPPR=6.32553;RPR=90;RUN=1;SAF=103;SAP=15.8611;SAR=141;SF=0;SRF=110;SRP=17.6304;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3792;dpsi_zscore=0.996;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-454.187,0,-526.143:513:262:244:7032:8006 . . . . . . . . . . 0/1:-371.781,0,-713.03:538:323:213:6223:10031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 123714764 . C T 4840.34 . AB=0.494845;ABP=3.14462;AC=11;AF=0.5;AN=22;AO=288;CIGAR=1X;DP=5805;DPB=582;DPRA=0;EPP=56.2114;EPPR=38.6163;GTI=0;LEN=1;MEANALT=2;MQM=39.4444;MQMR=40.8404;NS=1;NUMALT=1;ODDS=1206.7;PAIRED=0.982639;PAIREDR=0.975177;PAO=0;PQA=0;PQR=0;PRO=0;QA=8500;QR=8161;RO=282;RPL=143;RPP=3.04046;RPPR=4.11914;RPR=145;RUN=1;SAF=179;SAP=39.9555;SAR=109;SF=0,1;SRF=168;SRP=25.4642;SRR=114;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0370;esp6500siv2_ea=0.0483;esp6500siv2_all=0.0370;esp6500siv2_ea=0.0483;1000g2015aug_all=0.0163738;avsnp147=rs41284430;Kaviar_AF=0.0323023;Kaviar_AC=4994;Kaviar_AN=154602;ExAC_ALL=0.0519;ExAC_AFR=0.0102;ExAC_AMR=0.0409;ExAC_EAS=0.0002;ExAC_FIN=0.0478;ExAC_NFE=0.0819;ExAC_OTH=0.0486;ExAC_SAS=0.0156;CLNALLELEID=229405;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-29.0469;dpsi_zscore=-3.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0317;gnomAD_exome_AFR=0.0063;gnomAD_exome_AMR=0.0226;gnomAD_exome_ASJ=0.0198;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0319;gnomAD_exome_NFE=0.0498;gnomAD_exome_OTH=0.0393;gnomAD_exome_SAS=0.0111;gnomAD_genome_ALL=0.0314;gnomAD_genome_AFR=0.0091;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0332;gnomAD_genome_NFE=0.0479;gnomAD_genome_OTH=0.0347;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-558.981,0,-537.47:582:282:288:8500:8161 . 0/1:-431.338,0,-492.358:500:253:227:6784:7451 . . . 0/1:-493.654,0,-458.364:488:230:251:7444:6960 . 0/1:-382.42,0,-288.972:350:154:183:5586:4623 . . . 0/1:-946.077,0,-927.618:959:471:463:14261:14022 . . . . . 0/1:-530.753,0,-554.449:565:278:273:8114:8263 . . . . . . . 0/1:-650.061,0,-794.252:766:409:333:10127:11805 . . . . . . . . . . . . . . 0/1:-390.242,0,-501.53:477:256:210:6172:7560 . . . . . . . . . . . . . . . . . . . 0/1:-360.097,0,-444.362:436:228:193:5679:6757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-363.921,0,-281.542:323:138:172:5345:4272:138,172 . . 0/1:-365.68,0,-378.013:359:176:179:5512:5567:176,179 . . . . . . . . . . . . chr6 123833454 . CCAGTG CCACTG 586.32 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=17;CIGAR=3M1X;DP=59;DPB=21;DPRA=0;EPP=9.26925;EPPR=0;GTI=0;LEN=1;MEANALT=4;MQM=40.7647;MQMR=0;NS=1;NUMALT=1;ODDS=18.061;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=449;QR=0;RO=0;RPL=8;RPP=3.13803;RPPR=0;RPR=9;RUN=1;SAF=7;SAP=4.1599;SAR=10;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V\x3bTRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.8425;esp6500siv2_ea=0.8615;esp6500siv2_all=0.8425;esp6500siv2_ea=0.8615;1000g2015aug_all=0.843251;avsnp147=rs6902416;Kaviar_AF=0.793101;Kaviar_AC=122615;Kaviar_AN=154602;ExAC_ALL=0.8259;ExAC_AFR=0.7744;ExAC_AMR=0.8469;ExAC_EAS=0.8578;ExAC_FIN=0.8518;ExAC_NFE=0.8300;ExAC_OTH=0.8088;ExAC_SAS=0.8116;CLNALLELEID=229411;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.280;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=1.56;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_pred=N;VEST3_score=0.15;CADD_raw=-0.289;CADD_phred=0.705;DANN_score=0.215;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.030;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=-3.38;phyloP7way_vertebrate=-3.199;phyloP20way_mammalian=-1.330;phastCons7way_vertebrate=0.028;phastCons20way_mammalian=0.776;SiPhy_29way_logOdds=1.908;GDI_full_10282015=.;dpsi_max_tissue=-0.8762;dpsi_zscore=-1.395;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8443;gnomAD_exome_AFR=0.7754;gnomAD_exome_AMR=0.8734;gnomAD_exome_ASJ=0.8079;gnomAD_exome_EAS=0.8759;gnomAD_exome_FIN=0.8587;gnomAD_exome_NFE=0.8470;gnomAD_exome_OTH=0.8622;gnomAD_exome_SAS=0.8193;gnomAD_genome_ALL=0.8511;gnomAD_genome_AFR=0.8015;gnomAD_genome_AMR=0.8819;gnomAD_genome_ASJ=0.8079;gnomAD_genome_EAS=0.8921;gnomAD_genome_FIN=0.8858;gnomAD_genome_NFE=0.8672;gnomAD_genome_OTH=0.8433;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:.,.,0:21:0:17:449:0:0,17 . . . . . 1/1:-83.0661,-7.14301,0:38:1:29:964:21:1,29 . . . . . . . . . . chr6 123833456 . AG AC 2014.66 . AB=0;ABP=0;AC=6;AF=1;AN=6;AO=94;CIGAR=1M1X;DP=241;DPB=100.5;DPRA=0;EPP=21.1213;EPPR=0;GTI=0;LEN=1;MEANALT=4;MQM=40.0426;MQMR=0;NS=1;NUMALT=1;ODDS=137.689;PAIRED=0.957447;PAIREDR=0;PAO=2.5;PQA=75;PQR=7;PRO=0.5;QA=2834;QR=0;RO=0;RPL=37;RPP=12.2506;RPPR=0;RPR=57;RUN=1;SAF=52;SAP=5.32038;SAR=42;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TRDN:NM_001251987:exon7:c.601delC:p.L201fs,TRDN:NM_001256020:exon7:c.601delC:p.L201fs,TRDN:NM_001256021:exon7:c.601delC:p.L201fs,TRDN:NM_006073:exon7:c.601delC:p.L201fs;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-250.882,-29.5009,0:99:0:94:2834:0:0,94 1/1:-174.805,-18.3628,0:66:0:61:1995:0:0,61 . . . . . . . . . . 1/1:-197.014,-20.3396,0:76:1:74:2323:25:1,74 . . chr6 123833457 . G C 4534.56 . AB=0.550769;ABP=10.2864;AC=177;AF=0.5;AN=212;AO=179;CIGAR=1X;DP=26613;DPB=325;DPRA=0;EPP=64.1633;EPPR=17.1721;GTI=0;LEN=1;MEANALT=3;MQM=40.4302;MQMR=40.5507;NS=1;NUMALT=1;ODDS=561.471;PAIRED=0.98324;PAIREDR=0.978261;PAO=0;PQA=0;PQR=0;PRO=0;QA=5047;QR=4001;RO=138;RPL=58;RPP=51.1588;RPPR=17.1721;RPR=121;RUN=1;SAF=88;SAP=3.11948;SAR=91;SF=0,1;SRF=62;SRP=6.09442;SRR=76;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V\x3bTRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.8425;esp6500siv2_ea=0.8615;esp6500siv2_all=0.8425;esp6500siv2_ea=0.8615;1000g2015aug_all=0.843251;avsnp147=rs6902416;Kaviar_AF=0.793101;Kaviar_AC=122615;Kaviar_AN=154602;ExAC_ALL=0.8259;ExAC_AFR=0.7744;ExAC_AMR=0.8469;ExAC_EAS=0.8578;ExAC_FIN=0.8518;ExAC_NFE=0.8300;ExAC_OTH=0.8088;ExAC_SAS=0.8116;CLNALLELEID=229411;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.280;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=1.56;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_pred=N;VEST3_score=0.15;CADD_raw=-0.289;CADD_phred=0.705;DANN_score=0.215;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.030;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=-3.38;phyloP7way_vertebrate=-3.199;phyloP20way_mammalian=-1.330;phastCons7way_vertebrate=0.028;phastCons20way_mammalian=0.776;SiPhy_29way_logOdds=1.908;GDI_full_10282015=.;dpsi_max_tissue=-0.8762;dpsi_zscore=-1.395;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8443;gnomAD_exome_AFR=0.7754;gnomAD_exome_AMR=0.8734;gnomAD_exome_ASJ=0.8079;gnomAD_exome_EAS=0.8759;gnomAD_exome_FIN=0.8587;gnomAD_exome_NFE=0.8470;gnomAD_exome_OTH=0.8622;gnomAD_exome_SAS=0.8193;gnomAD_genome_ALL=0.8511;gnomAD_genome_AFR=0.8015;gnomAD_genome_AMR=0.8819;gnomAD_genome_ASJ=0.8079;gnomAD_genome_EAS=0.8921;gnomAD_genome_FIN=0.8858;gnomAD_genome_NFE=0.8672;gnomAD_genome_OTH=0.8433;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-342.772,0,-254.292:325:138:179:5047:4001 . 0/1:-302.917,0,-365.099:359:187:166:4693:5425 1/1:-474.021,-55.9916,0:190:0:186:5498:0 1/1:-670.635,-72.3977,0:286:6:272:7833:128 1/1:-599.092,-67.3653,0:256:5:246:6979:92 0/1:-321.457,0,-341.359:358:178:176:4873:5132 0/1:-191.623,0,-183.531:216:100:113:3075:2867 0/1:-185.715,0,-203.888:213:105:105:2938:3082 1/1:-955.161,-108.355,0:376:3:366:11042:42 1/1:-595.465,-74.5974,0:258:1:251:6887:14 1/1:-691.899,-78.6085,0:291:3:276:8059:60 1/1:-644.071,-77.1936,0:277:3:266:7464:42 0/1:-213.695,0,-165.858:204:90:110:3145:2642 1/1:-638.438,-81.4999,0:278:1:274:7487:14 1/1:-860.03,-96.2049,0:376:7:360:10133:161 1/1:-609.418,-75.2575,0:258:0:250:7089:0 1/1:-1190.11,-143.628,0:506:4:492:13759:69 . 1/1:-554.515,-61.7123,0:232:2:223:6447:68 1/1:-661.543,-76.6292,0:295:6:280:7764:106 1/1:-890.423,-105.549,0:367:2:357:10269:28 . 0/1:-290.109,0,-313.363:316:154:158:4526:4668 1/1:-665.088,-81.411,0:290:3:280:7690:42 0/1:-270.262,0,-217.966:260:115:143:3977:3404 1/1:-530.672,-64.702,0:223:1:218:6125:14 1/1:-834.012,-98.5152,0:352:6:341:9756:102 1/1:-473.087,-52.0332,0:202:3:195:5573:86 1/1:-503.648,-58.688,0:204:1:198:5837:14 1/1:-743.184,-91.4703,0:314:2:308:8601:28 1/1:-929.919,-113.172,0:402:3:386:10876:55 1/1:-757.268,-89.7069,0:310:0:298:8700:0 1/1:-109.706,-9.64166,0:55:4:50:1429:74 1/1:-706.727,-82.3891,0:303:3:295:8251:82 1/1:-633.412,-68.9134,0:264:4:248:7360:78 0/1:-38.6867,0,-101.4:80:46:30:722:1437 0/1:-365.27,0,-344.825:388:181:197:5537:5286 1/1:-762.61,-86.4921,0:310:5:299:8821:70 1/1:-258.882,-32.8123,0:111:0:109:3027:0 1/1:-778.327,-89.4964,0:334:7:320:9097:118 1/1:-577.283,-60.3076,0:257:7:242:6822:177 1/1:-462.97,-49.7142,0:205:7:191:5525:111 0/1:-268.603,0,-215.41:251:113:137:3940:3373 0/1:-462.224,0,-383.565:462:204:245:6842:5912 1/1:-685.254,-78.6851,0:284:2:274:8029:50 0/1:-260.386,0,-226.176:271:123:141:3957:3521 0/1:-167.46,0,-122.069:157:65:88:2556:1912 0/1:-314.023,0,-249.695:297:132:157:4663:3896 0/1:-359.945,0,-281.563:334:142:182:5254:4328 1/1:-657.092,-78.0971,0:276:1:269:7603:36 1/1:-682.761,-80.8289,0:294:3:280:7981:60 0/1:-395.974,0,-309.19:366:166:193:5826:4919 1/1:-635.07,-72.7262,0:268:4:257:7397:78 1/1:-598.009,-71.2347,0:254:2:243:6879:28 1/1:-584.406,-65.9989,0:248:4:232:6842:56 1/1:-663.01,-81.8284,0:282:1:275:7605:14 1/1:-492.849,-58.3807,0:216:3:211:5731:67 1/1:-482.697,-56.2706,0:222:3:207:5646:78 1/1:-438.226,-50.8996,0:192:4:186:5141:78 0/1:-211.186,0,-217.38:235:107:116:3212:3258 0/1:-295.723,0,-307.135:320:158:158:4578:4585 1/1:-592.775,-66.5674,0:242:3:235:6862:64 1/1:-726.344,-77.1329,0:305:6:288:8517:128 1/1:-808.992,-96.6113,0:340:1:324:9388:14 1/1:-639.268,-76.2848,0:269:3:263:7450:42 1/1:-556.153,-67.91,0:247:3:235:6472:42 0/1:-367.389,0,-240.656:323:133:186:5347:3996 0/1:-163.001,0,-95.776:143:55:83:2360:1600 1/1:-557.717,-64.9934,0:244:4:239:6604:91 1/1:-463.045,-54.1946,0:204:3:200:5475:77 0/1:-261.426,0,-371.505:338:186:148:4194:5490 1/1:-1020.8,-114.394,0:415:5:402:11800:92 0/1:-204.021,0,-159.849:205:91:112:3077:2513 0/1:-266.027,0,-342.521:340:183:148:4213:5126 0/1:-348.283,0,-321.096:371:175:187:5310:4978 1/1:-600.609,-70.2061,0:261:3:249:7036:64 1/1:-757.463,-86.8069,0:321:5:308:8837:83 1/1:-529.525,-58.8685,0:226:4:215:6132:91 0/1:-239.25,0,-313.695:293:163:125:3771:4591 1/1:-595.647,-68.3628,0:251:4:242:6919:69 1/1:-772.468,-88.937,0:335:5:320:9070:121 1/1:-800.327,-84.8787,0:336:7:321:9368:158 1/1:-708.255,-80.11,0:300:4:287:8177:91 . 1/1:-509.915,-53.7569,0:234:6:221:6146:164 0/1:-278.406,0,-224.059:282:123:153:4237:3543 0/1:-297.371,0,-380.154:362:187:167:4705:5641 1/1:-573.664,-69.839,0:243:0:232:6564:0 1/1:-881.195,-104.592,0:395:8:376:10249:155 1/1:-1045.29,-123.003,0:435:3:420:12058:49 1/1:-485.202,-59.7944,0:210:2:205:5703:28 1/1:-762.809,-87.0805,0:322:5:307:8935:83 1/1:-599.601,-71.5763,0:252:2:244:7057:28 0/1:-215.731,0,-382.559:330:192:132:3675:5626 . 0/1:-61.2979,0,-34.979:47:19:28:859:573:19,28 1/1:-132.685,-15.3525,0:52:0:51:1528:0:0,51 1/1:-213.045,-24.6845,0:84:0:82:2452:0:0,82 . 1/1:-140.832,-13.3289,0:56:1:54:1630:36:1,54 . . 1/1:-205.702,-22.8783,0:78:0:76:2365:0:0,76 1/1:-104.936,-3.75889,0:44:3:41:1295:104:3,41 . 0/1:-69.378,0,-74.0249:68:33:33:1025:1081:33,33 0/1:-49.5915,0,-70.0488:60:33:26:803:1021:33,26 1/1:-156.642,-18.0618,0:61:0:60:1781:0:0,60 1/1:-241.305,-26.4906,0:88:0:88:2753:0:0,88 0/1:-35.6682,0,-19.6888:30:13:16:503:350:13,16 1/1:-134.839,-12.9948,0:52:2:50:1559:28:2,50 1/1:-195.236,-21.3731,0:71:0:71:2216:0:0,71 . 0/1:-100.234,0,-59.9196:79:31:45:1429:936:31,45 0/1:-42.2725,0,-35.8909:39:19:19:622:536:19,19 chr6 123851610 . G A 2623.49 . AB=0.455197;ABP=7.87471;AC=135;AF=0.5;AN=190;AO=127;CIGAR=1X;DP=17982;DPB=279;DPRA=0;EPP=5.8999;EPPR=19.9713;GTI=0;LEN=1;MEANALT=3;MQM=36.2756;MQMR=41.1959;NS=1;NUMALT=1;ODDS=436.366;PAIRED=0.976378;PAIREDR=0.993243;PAO=0;PQA=0;PQR=0;PRO=0;QA=3450;QR=4476;RO=148;RPL=63;RPP=3.0274;RPPR=19.9713;RPR=64;RUN=1;SAF=96;SAP=75.2502;SAR=31;SF=0,1;SRF=114;SRP=96.9118;SRR=34;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.497404;avsnp147=rs12198167;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;ExAC_ALL=0.5536;ExAC_AFR=0.4268;ExAC_AMR=0.6457;ExAC_EAS=0.4026;ExAC_FIN=0.5938;ExAC_NFE=0.6181;ExAC_OTH=0.5934;ExAC_SAS=0.5253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1100;dpsi_zscore=0.513;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5747;gnomAD_exome_AFR=0.3846;gnomAD_exome_AMR=0.5473;gnomAD_exome_ASJ=0.5369;gnomAD_exome_EAS=0.2927;gnomAD_exome_FIN=0.5986;gnomAD_exome_NFE=0.6339;gnomAD_exome_OTH=0.5920;gnomAD_exome_SAS=0.5117;gnomAD_genome_ALL=0.5628;gnomAD_genome_AFR=0.4365;gnomAD_genome_AMR=0.5939;gnomAD_genome_ASJ=0.5629;gnomAD_genome_EAS=0.3359;gnomAD_genome_FIN=0.6304;gnomAD_genome_NFE=0.6409;gnomAD_genome_OTH=0.5996;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-203.731,0,-309.25:279:148:127:3450:4476 . 0/1:-279.334,0,-349.67:328:164:163:4623:5082 1/1:-419.441,-46.5151,0:176:2:173:5075:68 1/1:-483.157,-59.1115,0:208:1:207:5788:36 1/1:-534.323,-52.5379,0:227:5:222:6532:176 . 0/1:-178.498,0,-211.406:200:98:100:2810:3083 0/1:-166.661,0,-180.445:184:87:96:2657:2694 0/1:-236.236,0,-321.4:284:152:130:3833:4686 0/1:-185.665,0,-273.481:246:127:117:3163:3988 1/1:-414.685,-54.1854,0:180:0:180:5053:0 1/1:-454.007,-55.8759,0:200:2:198:5625:46 0/1:-164.127,0,-190.209:187:93:94:2805:2803 1/1:-682.138,-83.0843,0:276:0:276:8181:0 . 0/1:-209.41,0,-302.867:266:141:119:3405:4389 0/1:-402.035,0,-443.26:451:218:228:6363:6578 . 0/1:-123.757,0,-189.015:158:86:72:2079:2693 0/1:-208.097,0,-251.793:232:117:111:3330:3684 . . 0/1:-181.51,0,-246.444:222:116:104:2909:3583 0/1:-226.906,0,-283.597:268:129:137:3826:4165 0/1:-108.046,0,-238.785:179:109:70:1957:3318 0/1:-150.749,0,-178.098:174:85:86:2398:2640 0/1:-230.638,0,-393.509:318:180:136:3895:5575 1/1:-392.068,-44.8644,0:178:3:175:4743:104 1/1:-399.834,-45.8103,0:164:1:162:4772:36 1/1:-521.003,-56.5089,0:234:5:228:6541:158 0/1:-254.055,0,-345.052:305:164:138:4181:4954 1/1:-523.921,-62.9153,0:209:0:209:6125:0 1/1:-161.278,-18.0618,0:60:0:60:1876:0 1/1:-513.54,-64.7215,0:215:0:215:6211:0 0/1:-232.045,0,-274.983:263:128:134:3716:4015 0/1:-86.5288,0,-63.5483:78:30:48:1474:986 . 0/1:-202.544,0,-316.796:274:148:123:3498:4529 0/1:-93.9721,0,-82.7375:100:44:54:1553:1295 1/1:-693.606,-73.7967,0:292:6:285:8474:164 1/1:-401.246,-40.4752,0:175:4:171:4919:135 0/1:-158.676,0,-254.291:203:112:88:2630:3567 . 0/1:-259.518,0,-467.342:367:212:152:4348:6564 1/1:-584.47,-68.3013,0:249:2:247:7007:72 0/1:-175.901,0,-198.13:195:96:98:2787:2939 0/1:-82.0918,0,-143.194:111:63:47:1427:2009 . 0/1:-180.668,0,-290.976:252:141:107:3077:4182 0/1:-135.645,0,-344.126:230:147:82:2468:4694 1/1:-664.49,-82.5327,0:283:2:281:8116:28 0/1:-218.237,0,-302.378:263:138:124:3571:4346 0/1:-161.953,0,-219.687:207:105:98:2772:3254 . 1/1:-446.569,-52.1879,0:185:1:184:5396:36 1/1:-606.919,-73.604,0:255:1:254:7184:32 0/1:-175.715,0,-152.174:170:79:88:2649:2315 1/1:-495.901,-55.9453,0:213:3:210:6090:89 0/1:-108.194,0,-203.569:164:90:70:1914:2875 0/1:-112.328,0,-162.335:140:74:62:1865:2304 . 1/1:-360.58,-41.4726,0:155:2:152:4354:53 0/1:-173.657,0,-223.428:212:111:98:2888:3254 1/1:-719.828,-82.0577,0:295:2:292:8699:72 0/1:-169.763,0,-329.363:249:148:98:2875:4592 1/1:-463.757,-54.9402,0:193:1:192:5522:32 0/1:-302.977,0,-295.223:312:146:162:4741:4423 0/1:-90.0574,0,-99.5156:108:50:54:1554:1480 1/1:-466.318,-52.6424,0:205:4:201:5678:100 . 0/1:-171.807,0,-266.129:235:124:105:2914:3799 1/1:-754.344,-76.7611,0:336:9:325:9357:268 0/1:-186.1,0,-154.803:189:82:103:2877:2450 . 0/1:-205.024,0,-246.485:227:116:109:3231:3587 0/1:-187.62,0,-248.922:228:119:106:3036:3613 0/1:-344.063,0,-259.605:314:136:174:5074:4007 . . 1/1:-522.58,-62.3641,0:216:2:214:6342:28 1/1:-622.867,-73.2785,0:257:2:255:7485:68 1/1:-535.637,-66.4107,0:228:1:227:6511:27 1/1:-589.921,-69.1879,0:254:4:249:7223:78 . 1/1:-418.659,-51.8289,0:184:1:182:5159:36 . 0/1:-198.775,0,-382.441:306:174:129:3553:5441 0/1:-157.933,0,-146.264:167:75:88:2447:2221 0/1:-261.659,0,-314.819:303:150:151:4273:4628 1/1:-756.228,-90.6982,0:314:1:311:9139:36 1/1:-441.534,-56.3984,0:192:1:191:5449:14 1/1:-628.506,-73.8291,0:258:1:255:7588:36 1/1:-396.727,-32.1057,0:193:10:183:5084:304 0/1:-207.217,0,-286.623:257:136:120:3500:4125 . 0/1:-8.4273,0,-24.6092:14:10:4:140:322:10,4 0/1:-9.40979,0,-20.1382:17:8:9:250:284:8,9 1/1:-62.1909,-6.92369,0:23:0:23:727:0:0,23 1/1:-10.3326,-1.20412,0:4:0:4:114:0:0,4 1/1:-43.172,-4.81648,0:16:0:16:534:0:0,16 1/1:-59.3421,-6.92369,0:23:0:23:676:0:0,23 . 1/1:-70.7369,-5.5282,0:30:1:29:916:36:1,29 . 1/1:-16.7925,-1.80618,0:6:0:6:212:0:0,6 0/1:-23.2333,0,-9.30913:14:5:9:308:150:5,9 0/1:-13.538,0,-18.507:15:8:7:211:258:8,7 0/1:-27.8043,0,-12.0014:20:7:12:379:200:7,12 0/1:-25.6804,0,-25.1648:26:12:14:378:371:12,14 0/1:-28.0067,0,-15.354:23:8:15:417:249:8,15 1/1:-52.193,-6.32163,0:21:0:21:625:0:0,21 0/1:-22.3833,0,-38.272:28:15:13:389:528:15,13 0/1:-46.1278,0,-10.7642:30:8:22:720:234:8,22 . 0/1:-15.8547,0,-0.750392:8:1:7:231:32:1,7 chr6 123868506 . C T 3318.95 . AB=0.503185;ABP=3.05179;AC=6;AF=0.5;AN=12;AO=237;CIGAR=1X;DP=1628;DPB=471;DPRA=0;EPP=3.09276;EPPR=3.47903;GTI=0;LEN=1;MEANALT=3;MQM=41.2447;MQMR=41.207;NS=1;NUMALT=1;ODDS=1059.92;PAIRED=0.991561;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7130;QR=7001;RO=227;RPL=150;RPP=39.3756;RPPR=17.5601;RPR=87;RUN=1;SAF=96;SAP=21.564;SAR=141;SF=0,1;SRF=95;SRP=16.1061;SRR=132;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon4:c.G403A:p.E135K,TRDN:NM_001256020:exon4:c.G403A:p.E135K,TRDN:NM_001256021:exon4:c.G403A:p.E135K,TRDN:NM_001256022:exon4:c.G403A:p.E135K,TRDN:NM_006073:exon4:c.G403A:p.E135K;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0099;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0099;1000g2015aug_all=0.00279553;avsnp147=rs192289289;Kaviar_AF=0.0042043;Kaviar_AC=650;Kaviar_AN=154602;ExAC_ALL=0.0073;ExAC_AFR=0.0061;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0069;ExAC_NFE=0.0134;ExAC_OTH=0.0128;ExAC_SAS=0.0016;CLNALLELEID=229414;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.008;LRT_pred=N;MutationTaster_score=0.962;MutationTaster_pred=N;MutationAssessor_score=1.69;MutationAssessor_pred=L;FATHMM_score=0.59;FATHMM_pred=T;PROVEAN_score=-1.12;PROVEAN_pred=N;VEST3_score=0.767;CADD_raw=4.510;CADD_phred=24.3;DANN_score=0.996;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.601;MetaSVM_pred=T;MetaLR_score=0.309;MetaLR_pred=T;integrated_fitCons_score=0.616;integrated_confidence_value=0;GERP++_RS=5.73;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=16.678;GDI_full_10282015=.;dpsi_max_tissue=-5.3936;dpsi_zscore=-2.546;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0078;gnomAD_exome_NFE=0.0117;gnomAD_exome_OTH=0.0077;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0090;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0093;gnomAD_genome_NFE=0.0138;gnomAD_genome_OTH=0.0123;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-484.7,0,-470.438:471:227:237:7130:7001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-291.65,0,-377.193:332:180:146:4436:5437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-369.553,0,-430.009:399:204:188:5574:6294 . . . . 0/1:-110.124,0,-115.11:111:53:56:1652:1685:53,56 . . . . . . . . 0/1:-113.774,0,-117.699:110:58:51:1682:1752:58,51 0/1:-242.404,0,-207.777:205:99:105:3470:3084:99,105 . . . . . . . . . chr6 123869607 . G C 3173.49 . AB=0.46063;ABP=6.42994;AC=116;AF=0.5;AN=164;AO=117;CIGAR=1X;DP=18407;DPB=254;DPRA=0;EPP=5.25601;EPPR=16.3106;GTI=0;LEN=1;MEANALT=3;MQM=38.906;MQMR=39.2734;NS=1;NUMALT=1;ODDS=493.252;PAIRED=0.982906;PAIREDR=0.976562;PAO=0;PQA=0;PQR=0;PRO=0;QA=3671;QR=3931;RO=128;RPL=22;RPP=101.914;RPPR=159.356;RPR=95;RUN=1;SAF=86;SAP=59.1531;SAR=31;SF=0,1;SRF=94;SRP=64.083;SRR=34;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon3:c.C383G:p.T128S,TRDN:NM_001256020:exon3:c.C383G:p.T128S,TRDN:NM_001256021:exon3:c.C383G:p.T128S,TRDN:NM_001256022:exon3:c.C383G:p.T128S,TRDN:NM_006073:exon3:c.C383G:p.T128S;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.5412;esp6500siv2_ea=0.5375;esp6500siv2_all=0.5412;esp6500siv2_ea=0.5375;1000g2015aug_all=0.392971;avsnp147=rs9490809;Kaviar_AF=0.421152;Kaviar_AC=65111;Kaviar_AN=154602;ExAC_ALL=0.4926;ExAC_AFR=0.5424;ExAC_AMR=0.3052;ExAC_EAS=0.1014;ExAC_FIN=0.5886;ExAC_NFE=0.5608;ExAC_OTH=0.4899;ExAC_SAS=0.4480;CLNALLELEID=229415;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.474;SIFT_pred=T;Polyphen2_HDIV_score=0.874;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.443;Polyphen2_HVAR_pred=B;LRT_score=0.362;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=0.58;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_pred=N;VEST3_score=0.084;CADD_raw=-0.436;CADD_phred=0.316;DANN_score=0.239;fathmm-MKL_coding_score=0.347;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.97;phyloP7way_vertebrate=0.034;phyloP20way_mammalian=0.084;phastCons7way_vertebrate=0.933;phastCons20way_mammalian=0.458;SiPhy_29way_logOdds=4.223;GDI_full_10282015=.;dpsi_max_tissue=-4.1907;dpsi_zscore=-2.379;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4419;gnomAD_exome_AFR=0.5288;gnomAD_exome_AMR=0.2497;gnomAD_exome_ASJ=0.5784;gnomAD_exome_EAS=0.0792;gnomAD_exome_FIN=0.5682;gnomAD_exome_NFE=0.5166;gnomAD_exome_OTH=0.4754;gnomAD_exome_SAS=0.3914;gnomAD_genome_ALL=0.5046;gnomAD_genome_AFR=0.5368;gnomAD_genome_AMR=0.3169;gnomAD_genome_ASJ=0.52;gnomAD_genome_EAS=0.0646;gnomAD_genome_FIN=0.5806;gnomAD_genome_NFE=0.5242;gnomAD_genome_OTH=0.5308;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-236.881,0,-254.211:254:128:117:3671:3931 . 0/1:-219.251,0,-261.716:264:138:114:3509:4014 0/1:-128.314,0,-194.842:167:96:69:2130:2930 1/1:-456.299,-57.7978,0:200:0:192:5516:0 1/1:-721.65,-85.4372,0:298:1:287:8503:14 . 1/1:-488.395,-36.3337,0:220:13:203:6113:373 . . 1/1:-607.289,-64.7269,0:253:5:246:7331:136 0/1:-276.495,0,-168.397:234:93:135:4073:2769 0/1:-243.505,0,-195.463:237:106:126:3716:3147 1/1:-542.694,-64.291,0:233:1:222:6650:32 0/1:-295.571,0,-204.819:252:108:140:4367:3307 . 0/1:-132.124,0,-137.998:157:75:75:2131:2183 1/1:-968.552,-105.602,0:406:8:389:11711:169 0/1:-228.227,0,-238.968:252:126:122:3577:3707 0/1:-161.325,0,-183.057:199:96:96:2760:2857 1/1:-440.867,-48.5033,0:185:4:179:5496:74 . 1/1:-328.809,-35.9821,0:135:2:133:3959:50 0/1:-162.465,0,-261.205:231:125:99:2711:3857 0/1:-246.349,0,-303.313:291:153:133:3897:4627 0/1:-200.203,0,-182.789:210:96:111:3176:2871 . 0/1:-332.696,0,-241.581:301:130:166:4925:3879 0/1:-158.354,0,-154.988:175:85:86:2483:2561 0/1:-155.456,0,-118.685:143:63:76:2362:1878 0/1:-225.348,0,-166.061:212:93:117:3382:2771 . . 0/1:-128.348,0,-69.2162:104:39:61:1963:1196 . 1/1:-609.751,-63.2655,0:284:7:266:7615:214 . 0/1:-333.944,0,-199.007:272:109:157:4896:3422 0/1:-237.25,0,-231.771:267:128:133:3811:3790 0/1:-132.615,0,-95.0504:119:54:64:1952:1522 . 1/1:-432.216,-33.867,0:195:9:182:5468:267 1/1:-499.552,-55.613,0:217:3:207:5930:86 1/1:-578.143,-58.0433,0:245:6:232:7078:153 . . 1/1:-554.68,-63.5978,0:233:2:224:6660:50 . 1/1:-637.046,-74.4242,0:275:3:263:7701:64 1/1:-665.434,-65.6741,0:290:11:268:7964:232 0/1:-172.593,0,-273.528:239:135:99:2908:4045 . 1/1:-747.58,-82.3826,0:324:7:309:9030:162 0/1:-174.017,0,-187.17:201:97:98:2905:2921 0/1:-157.409,0,-135.049:162:72:82:2486:2193 1/1:-450.815,-49.3573,0:192:4:181:5439:78 0/1:-214.237,0,-238.058:242:124:111:3357:3563 0/1:-159.108,0,-146.709:174:80:85:2480:2359 1/1:-464.298,-47.324,0:192:5:183:5569:128 1/1:-484.935,-49.5515,0:217:8:204:6037:160 0/1:-115.148,0,-154.006:159:86:71:2026:2488 1/1:-748.883,-82.7358,0:324:8:305:9086:130 1/1:-415.63,-49.9515,0:174:1:169:4947:14 . . 0/1:-267.971,0,-238.444:272:122:143:4157:3695 0/1:-144.405,0,-132.082:155:72:78:2234:2229 0/1:-173.649,0,-242.736:235:128:103:2898:3792 0/1:-183.814,0,-154.997:176:82:89:2795:2459 . 0/1:-222.563,0,-249.515:255:130:121:3489:3937 . 1/1:-575.395,-59.6414,0:247:5:240:7052:158 1/1:-412.92,-48.4963,0:186:4:177:5082:91 1/1:-493.253,-61.1091,0:208:0:203:5800:0 . 0/1:-249.376,0,-199.058:243:115:125:3844:3275 1/1:-644.369,-69.2682,0:270:5:256:7682:105 1/1:-437.023,-50.2209,0:185:2:177:5224:41 1/1:-525.971,-63.204,0:219:1:213:6204:14 1/1:-540.251,-60.4391,0:238:3:223:6522:86 0/1:-223.799,0,-184.681:231:103:122:3635:3022 . 0/1:-235.386,0,-170.289:219:94:121:3659:2732 1/1:-511.837,-47.3963,0:247:10:227:6433:275 . 0/1:-161.189,0,-189.68:185:95:89:2662:2890 0/1:-281.896,0,-236.427:280:127:148:4417:3946 0/1:-168.989,0,-153.038:170:80:88:2613:2415 1/1:-621.042,-70.2217,0:255:2:246:7512:50 0/1:-279.454,0,-271.634:309:147:146:4400:4343 0/1:-175.336,0,-173.123:186:91:91:2838:2708 0/1:-248.988,0,-243.89:271:129:135:3970:3895 . 0/1:-267.399,0,-281.455:300:146:146:4184:4343 . . . 1/1:-557.412,-54.3102,0:227:5:217:6756:154:5,217 . 0/1:-178.74,0,-132.257:159:72:83:2660:2206:72,83 1/1:-663.377,-73.5123,0:261:2:257:8011:50:2,257 . 0/1:-190.478,0,-246.017:222:117:102:3125:3667:117,102 . . 0/1:-148.52,0,-190.019:169:93:75:2302:2862:93,75 0/1:-175.229,0,-222.415:195:104:89:2743:3343:104,89 1/1:-555.169,-61.5409,0:221:1:214:6645:36:1,214 . . 0/1:-230.415,0,-158.478:194:83:108:3383:2611:83,108 1/1:-553.147,-55.616,0:211:3:206:6497:82:3,206 0/1:-236.317,0,-144.847:186:73:110:3459:2356:73,110 0/1:-179.06,0,-241.612:210:116:91:2835:3654:116,91 . chr6 123869769 . TAAAAAAAAAAAAAAAGAAAAAGTTTG TAAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAAAAAAAAAATTTTT 1018.94 . 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AB=0.46645;ABP=12.044;AC=35;AF=0.5;AN=62;AO=431;CIGAR=1X;DP=32449;DPB=924;DPRA=0;EPP=23.007;EPPR=5.42863;GTI=0;LEN=1;MEANALT=3;MQM=39.1439;MQMR=39.3832;NS=1;NUMALT=1;ODDS=1846.84;PAIRED=0.981439;PAIREDR=0.968421;PAO=0;PQA=0;PQR=0;PRO=0;QA=12723;QR=13899;RO=475;RPL=210;RPP=3.61992;RPPR=18.9238;RPR=221;RUN=1;SAF=198;SAP=9.18212;SAR=233;SF=0,1;SRF=218;SRP=9.96358;SRR=257;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon2:c.C156T:p.I52I,LAMA2:NM_001079823:exon2:c.C156T:p.I52I;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0850;esp6500siv2_ea=0.1164;esp6500siv2_all=0.0850;esp6500siv2_ea=0.1164;1000g2015aug_all=0.0706869;avsnp147=rs1140366;Kaviar_AF=0.0988668;Kaviar_AC=15285;Kaviar_AN=154602;ExAC_ALL=0.0996;ExAC_AFR=0.0197;ExAC_AMR=0.0601;ExAC_EAS=0.1532;ExAC_FIN=0.1022;ExAC_NFE=0.1232;ExAC_OTH=0.1013;ExAC_SAS=0.0532;CLNALLELEID=98845;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1907;dpsi_zscore=-0.669;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0987;gnomAD_exome_AFR=0.0169;gnomAD_exome_AMR=0.0649;gnomAD_exome_ASJ=0.1846;gnomAD_exome_EAS=0.1523;gnomAD_exome_FIN=0.0962;gnomAD_exome_NFE=0.1162;gnomAD_exome_OTH=0.1055;gnomAD_exome_SAS=0.0556;gnomAD_genome_ALL=0.0878;gnomAD_genome_AFR=0.0174;gnomAD_genome_AMR=0.0658;gnomAD_genome_ASJ=0.1933;gnomAD_genome_EAS=0.1566;gnomAD_genome_FIN=0.1046;gnomAD_genome_NFE=0.1159;gnomAD_genome_OTH=0.0980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-812.338,0,-913.931:924:475:431:12723:13899 . . . . 0/1:-1225.88,0,-1192.1:1281:616:642:18877:18617 0/1:-753.298,0,-887.263:872:442:410:11992:13435 . 1/1:-2180.77,-222.405,0:887:17:862:25988:498 0/1:-1034.64,0,-1118.23:1118:555:543:16113:16918 . . . . . . . 0/1:-1790.05,0,-1973.17:1900:951:918:27584:29458 . . . . . . 1/1:-2770.37,-297.91,0:1164:18:1128:33223:534 . . . 0/1:-711.695,0,-758.127:798:386:384:11296:11676 . . . 0/1:-931.666,0,-1189.34:1134:584:525:15087:17670 . . . . . . . . . . 0/1:-867.514,0,-1021.52:1002:511:468:13748:15261 . 0/1:-906.468,0,-1068.09:1038:539:482:14388:15935 0/1:-856.07,0,-844.651:905:428:453:13281:12963 . . 1/1:-2773.38,-280.873,0:1141:23:1113:33270:691 0/1:-1140.9,0,-918.211:1059:474:567:16916:14389 . . . . . . 0/1:-562.394,0,-710.857:692:352:324:9335:10826 . 0/1:-967.118,0,-862.067:945:446:484:14717:13268 0/1:-655.774,0,-711.471:734:369:355:10376:11003 0/1:-1140.77,0,-1269.78:1222:619:582:17564:19047 . . 0/1:-1398.77,0,-1398.43:1443:700:719:21553:21356 0/1:-970.081,0,-1075.79:1041:533:490:15036:16217 . . . . 0/1:-821.83,0,-1099.16:997:527:447:13162:16205 . . . . . . . 0/1:-677.022,0,-782.798:746:379:351:10522:11721 . . 0/1:-1030.16,0,-1104.84:1108:551:536:16007:16697 . 0/1:-893.354,0,-935.935:947:475:453:13655:14161 0/1:-805.972,0,-820.081:856:421:415:12358:12724 . . 1/1:-2532.64,-274.221,0:1051:16:1019:30341:434 . . . . . . . . 0/1:-1136.78,0,-1126.81:1100:532:550:16855:16747:532,550 0/1:-1115.48,0,-1234.71:1165:583:555:16996:18277:583,555 . 0/1:-700.871,0,-621.137:652:309:333:10244:9511:309,333 . . . 0/1:-1173.25,0,-1376.87:1274:658:595:18162:20395:658,595 . . 0/1:-1090.08,0,-1496.47:1253:693:537:16849:21417:693,537 . . . . . . . . . chr6 129381026 . C A 16589.71 . AB=0;ABP=0;AC=222;AF=1;AN=230;AO=769;CIGAR=1X;DP=78700;DPB=781;DPRA=0;EPP=21.537;EPPR=16.0391;GTI=0;LEN=1;MEANALT=3;MQM=39.5046;MQMR=38.3333;NS=1;NUMALT=1;ODDS=1030.21;PAIRED=0.963589;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=22833;QR=102;RO=6;RPL=373;RPP=4.50407;RPPR=4.45795;RPR=396;RUN=1;SAF=405;SAP=7.75704;SAR=364;SF=0,1;SRF=4;SRP=4.45795;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon3:c.C381A:p.T127T,LAMA2:NM_001079823:exon3:c.C381A:p.T127T;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.9473;esp6500siv2_ea=0.9699;esp6500siv2_all=0.9473;esp6500siv2_ea=0.9699;1000g2015aug_all=0.936701;avsnp147=rs4404787;Kaviar_AF=0.948435;Kaviar_AC=146630;Kaviar_AN=154602;ExAC_ALL=0.9578;ExAC_AFR=0.9024;ExAC_AMR=0.9849;ExAC_EAS=0.9742;ExAC_FIN=0.9859;ExAC_NFE=0.9705;ExAC_OTH=0.9692;ExAC_SAS=0.9023;CLNALLELEID=98862;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2078;dpsi_zscore=0.738;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9609;gnomAD_exome_AFR=0.9003;gnomAD_exome_AMR=0.9844;gnomAD_exome_ASJ=0.9720;gnomAD_exome_EAS=0.9767;gnomAD_exome_FIN=0.9848;gnomAD_exome_NFE=0.9694;gnomAD_exome_OTH=0.9681;gnomAD_exome_SAS=0.9033;gnomAD_genome_ALL=0.9540;gnomAD_genome_AFR=0.9027;gnomAD_genome_AMR=0.9773;gnomAD_genome_ASJ=0.9636;gnomAD_genome_EAS=0.9759;gnomAD_genome_FIN=0.9840;gnomAD_genome_NFE=0.9723;gnomAD_genome_OTH=0.9644;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1953.66,-224.218,0:781:6:769:22833:102 1/1:-2347.13,-268.185,0:914:2:901:27380:41 1/1:-1756.47,-194.543,0:671:4:657:20299:63 1/1:-1370.15,-150.519,0:522:5:514:15883:83 1/1:-2037.57,-231.375,0:785:4:778:23794:63 1/1:-2398.72,-264.278,0:938:12:920:28085:206 1/1:-1673.86,-193.815,0:662:4:651:19474:56 1/1:-1803,-208.072,0:717:5:707:21210:70 1/1:-1662.5,-186.522,0:653:5:641:19302:90 1/1:-2286.26,-259.898,0:888:4:876:26743:56 1/1:-1934.75,-228.074,0:771:2:764:22639:28 1/1:-1847.17,-209.218,0:725:6:714:21530:84 1/1:-1962.87,-221.103,0:753:3:744:22827:42 1/1:-1791.33,-205.609,0:721:7:707:20971:111 1/1:-1728.16,-200.919,0:692:3:677:20269:42 1/1:-2454.04,-270.574,0:990:15:966:29054:284 1/1:-1584.69,-185.623,0:637:3:624:18725:42 1/1:-3401.07,-378.894,0:1327:11:1299:39508:197 1/1:-1863.14,-205.171,0:753:13:734:21887:245 1/1:-1467.41,-168.391,0:579:4:572:17155:56 1/1:-1408.38,-162.446,0:554:2:546:16484:28 1/1:-2231.71,-255.197,0:865:2:854:25874:28 1/1:-1176.31,-133.045,0:479:8:467:13779:125 0/1:-990.557,0,-762.148:889:400:477:14500:11874 1/1:-2022.69,-231.948,0:786:2:779:23645:35 1/1:-1618.74,-182.048,0:641:7:629:18788:105 1/1:-1885.07,-210.269,0:739:8:726:21850:119 0/1:-929.302,0,-660.075:843:362:473:13818:10418 1/1:-1397.15,-163.01,0:556:3:551:16409:42 1/1:-1300.47,-148.689,0:499:1:497:15150:14 1/1:-1835.34,-211.101,0:731:6:718:21548:84 1/1:-2580.52,-292.005,0:1003:6:991:30240:115 1/1:-1816.54,-205.926,0:708:3:700:21022:64 1/1:-1252.07,-137.37,0:483:5:473:14658:84 1/1:-2221.66,-251.673,0:854:2:844:25792:35 1/1:-2102.39,-239.94,0:818:5:811:24459:70 1/1:-1501.25,-168.348,0:592:5:583:17500:96 1/1:-2341.59,-270.905,0:930:7:920:27374:98 1/1:-1909.85,-215.063,0:746:6:730:22181:84 1/1:-1037.51,-120.412,0:401:0:400:12040:0 1/1:-2172.35,-246.943,0:849:5:836:25139:70 0/1:-671.899,0,-587.757:669:324:342:10101:9059 1/1:-1712.59,-188.918,0:644:3:637:19831:42 1/1:-1873.86,-211.464,0:733:6:720:22001:91 1/1:-2640.49,-297.077,0:1031:8:1014:30766:130 1/1:-1941.44,-217.062,0:765:8:747:22678:145 1/1:-1635.84,-186.778,0:640:3:630:19235:42 1/1:-1071.18,-119.759,0:417:3:410:12426:60 1/1:-1709.4,-193.867,0:669:5:658:19982:88 1/1:-2137.23,-237.27,0:826:7:815:24981:123 1/1:-2067.4,-234.361,0:804:4:795:24120:69 1/1:-1952.04,-220.849,0:785:9:765:22981:164 1/1:-2400.77,-274.073,0:926:3:920:28037:42 1/1:-2111.98,-238.088,0:827:5:816:24598:101 1/1:-1562.05,-179.237,0:617:4:608:18183:56 1/1:-1709.1,-191.251,0:660:3:650:19818:60 1/1:-2013.36,-222.435,0:787:7:773:23486:151 1/1:-1273.71,-142.991,0:510:6:498:14936:98 1/1:-1507.58,-171.589,0:603:6:589:17628:91 1/1:-1594.02,-179.605,0:612:2:603:18590:28 1/1:-1400.09,-165.181,0:566:4:558:16425:56 1/1:-2246.28,-258.872,0:901:6:881:26211:91 1/1:-1579.25,-171.902,0:610:7:595:18376:105 1/1:-1578.41,-181.6,0:629:3:622:18579:73 1/1:-2510.45,-280.481,0:975:6:956:29282:104 1/1:-2039.93,-236.994,0:813:4:802:23925:63 1/1:-1238.31,-146.299,0:510:6:498:14640:120 1/1:-2136.07,-236.473,0:828:7:810:24946:111 0/1:-510.516,0,-398.4:488:213:269:7633:6319 1/1:-2030.39,-228.307,0:800:6:787:23775:116 1/1:-1584.88,-172.987,0:611:8:600:18549:112 1/1:-2352.82,-264.25,0:923:7:907:27652:123 0/1:-976.353,0,-862.79:950:452:484:14626:13143 1/1:-1237.99,-149.578,0:529:6:518:14719:91 1/1:-1874.75,-218.003,0:753:4:735:22060:74 1/1:-2221.12,-246.772,0:841:3:831:25760:55 1/1:-1939.94,-215.736,0:739:3:730:22546:55 1/1:-2402.63,-269.832,0:945:8:932:28102:147 1/1:-1404.37,-160.767,0:565:6:555:16398:97 1/1:-1345.56,-147.329,0:519:5:508:15713:88 1/1:-2063.54,-226.839,0:818:10:799:24060:200 1/1:-2025.66,-228.292,0:799:5:783:23752:109 1/1:-2213.19,-254.116,0:878:6:863:25966:84 1/1:-1788.38,-197.572,0:719:12:699:20978:195 1/1:-1582.2,-177.471,0:621:7:612:18628:118 1/1:-1529.63,-179.028,0:614:3:604:17847:42 1/1:-1558.76,-181.335,0:624:4:615:18107:56 1/1:-2118.59,-243.155,0:841:6:829:25079:91 1/1:-1102.42,-124.194,0:431:3:422:12951:42 1/1:-2194.19,-247.353,0:860:6:847:25520:106 0/1:-987.577,0,-892.523:993:472:512:14962:13786 1/1:-1634.82,-187.385,0:650:4:637:18898:69 0/1:-855.743,0,-925.632:933:484:441:13418:13896 1/1:-1783.29,-195.591,0:701:10:686:20682:175 1/1:-2070.8,-233.89,0:814:7:799:24114:98 . 1/1:-1046.4,-114.653,0:397:3:393:12103:64:3,393 1/1:-1315.85,-140.393,0:495:5:484:15351:77:5,484 1/1:-1376.11,-148.223,0:530:8:518:16112:150:8,518 1/1:-648.347,-69.5337,0:251:3:247:7507:64:3,247 1/1:-1180.84,-122.076,0:443:6:436:13764:122:6,436 0/1:-458.286,0,-557.631:510:275:231:6983:8160:275,231 1/1:-1223.54,-131.442,0:452:2:443:14136:28:2,443 1/1:-1242.61,-140.449,0:482:3:474:14440:42:3,474 1/1:-1311.65,-138.769,0:493:6:483:15287:106:6,483 1/1:-1042.67,-117.055,0:401:3:395:11971:42:3,395 1/1:-1262.5,-131.927,0:480:8:469:14782:137:8,469 1/1:-1000.74,-107.146,0:381:4:375:11642:78:4,375 1/1:-1155.55,-123.62,0:451:9:439:13426:126:9,439 1/1:-1108.07,-121.132,0:427:4:419:13015:69:4,419 1/1:-1112.81,-113.952,0:421:8:410:12971:132:8,410 1/1:-1147.02,-123.202,0:429:4:422:13176:56:4,422 1/1:-1424.94,-154.104,0:540:4:531:16537:78:4,531 1/1:-1276.97,-138.05,0:481:4:473:14713:63:4,473 1/1:-1347.76,-144.344,0:494:3:489:15535:42:3,489 1/1:-1002.86,-110.312,0:381:3:376:11547:42:3,376 chr6 129419457 . T G 9176.60 . AB=0.512515;ABP=4.15168;AC=1;AF=0.5;AN=2;AO=430;CIGAR=1X;DP=839;DPB=839;DPRA=0;EPP=6.96945;EPPR=17.9972;GTI=0;LEN=1;MEANALT=2;MQM=40.6047;MQMR=39.7174;NS=1;NUMALT=1;ODDS=1888.35;PAIRED=0.95814;PAIREDR=0.936118;PAO=0;PQA=0;PQR=0;PRO=0;QA=13561;QR=12679;RO=407;RPL=216;RPP=3.0305;RPPR=6.89974;RPR=214;RUN=1;SAF=225;SAP=5.03027;SAR=205;SF=1;SRF=201;SRP=3.14368;SRR=206;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon4:c.T536G:p.L179R,LAMA2:NM_001079823:exon4:c.T536G:p.L179R;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.632;MutationTaster_pred=N;MutationAssessor_score=-1.275;MutationAssessor_pred=N;FATHMM_score=-0.81;FATHMM_pred=T;PROVEAN_score=4.63;PROVEAN_pred=N;VEST3_score=0.142;CADD_raw=-0.699;CADD_phred=0.072;DANN_score=0.506;fathmm-MKL_coding_score=0.669;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.957;MetaSVM_pred=T;MetaLR_score=0.040;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-0.98;phyloP7way_vertebrate=-0.013;phyloP20way_mammalian=0.088;phastCons7way_vertebrate=0.801;phastCons20way_mammalian=0.247;SiPhy_29way_logOdds=16.853;GDI_full_10282015=.;dpsi_max_tissue=0.3231;dpsi_zscore=0.923;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-926.2,0,-829.907:839:407:430:13561:12679:407,430 . . . . . . . . . . . . . . . chr6 129470136 . G A 9750.78 . AB=0.50138;ABP=3.02828;AC=1;AF=0.5;AN=2;AO=545;CIGAR=1X;DP=1087;DPB=1087;DPRA=0;EPP=37.471;EPPR=6.00274;GTI=0;LEN=1;MEANALT=3;MQM=38.811;MQMR=39.9168;NS=1;NUMALT=1;ODDS=2245.2;PAIRED=0.937615;PAIREDR=0.943289;PAO=0;PQA=0;PQR=0;PRO=0;QA=15716;QR=16302;RO=529;RPL=393;RPP=234.426;RPPR=196.304;RPR=152;RUN=1;SAF=301;SAP=15.9555;SAR=244;SF=0;SRF=272;SRP=3.93389;SRR=257;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon7:c.G922A:p.E308K,LAMA2:NM_001079823:exon7:c.G922A:p.E308K;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0016;1000g2015aug_all=0.000199681;avsnp147=rs146462599;Kaviar_AF=0.0010802;Kaviar_AC=167;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0003;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0022;ExAC_SAS=0.0014;CLNALLELEID=237299;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.117;SIFT_pred=T;Polyphen2_HDIV_score=0.964;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.762;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.555;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_pred=T;PROVEAN_score=-1.61;PROVEAN_pred=N;VEST3_score=0.656;CADD_raw=6.036;CADD_phred=28.0;DANN_score=0.999;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.821;MetaSVM_pred=T;MetaLR_score=0.230;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.92;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.765;GDI_full_10282015=.;dpsi_max_tissue=-0.0648;dpsi_zscore=-0.327;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-1011.81,0,-1076.71:1087:529:545:15716:16302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129511373 . T C 8554.46 . AB=0.480287;ABP=5.83555;AC=7;AF=0.5;AN=12;AO=402;CIGAR=1X;DP=5517;DPB=837;DPRA=0;EPP=57.027;EPPR=58.6556;GTI=0;LEN=1;MEANALT=3;MQM=40.2612;MQMR=40.5074;NS=1;NUMALT=1;ODDS=1714.43;PAIRED=0.982587;PAIREDR=0.992611;PAO=0;PQA=0;PQR=0;PRO=0;QA=11568;QR=12572;RO=406;RPL=175;RPP=17.6164;RPPR=15.3331;RPR=227;RUN=1;SAF=238;SAP=32.5899;SAR=164;SF=0,1;SRF=235;SRP=24.9176;SRR=171;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon11:c.T1491C:p.C497C,LAMA2:NM_001079823:exon11:c.T1491C:p.C497C;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0120;esp6500siv2_ea=0.0112;esp6500siv2_all=0.0120;esp6500siv2_ea=0.0112;1000g2015aug_all=0.0565096;avsnp147=rs2306220;Kaviar_AF=0.0302325;Kaviar_AC=4674;Kaviar_AN=154602;ExAC_ALL=0.0323;ExAC_AFR=0.0153;ExAC_AMR=0.0182;ExAC_EAS=0.1546;ExAC_FIN=0.0225;ExAC_NFE=0.0132;ExAC_OTH=0.0364;ExAC_SAS=0.0701;CLNALLELEID=134879;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0317;dpsi_zscore=-0.174;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0319;gnomAD_exome_AFR=0.0154;gnomAD_exome_AMR=0.0191;gnomAD_exome_ASJ=0.0213;gnomAD_exome_EAS=0.1557;gnomAD_exome_FIN=0.0226;gnomAD_exome_NFE=0.0120;gnomAD_exome_OTH=0.0254;gnomAD_exome_SAS=0.0683;gnomAD_genome_ALL=0.0207;gnomAD_genome_AFR=0.0141;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.1650;gnomAD_genome_FIN=0.0226;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-762.197,0,-837.659:837:406:402:11568:12572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-887.998,0,-1081.31:1006:513:473:13735:15972 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-593.179,0,-851.847:742:401:326:9367:12470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-952.094,0,-1072.74:982:503:464:14312:15831:503,464 . . . . . . 0/1:-1145.42,0,-1042.47:1027:483:533:16641:15471:483,533 . . . . 1/1:-2375.7,-232.687,0:923:17:893:27821:503:17,893 . . . . . . chr6 129513837 . A G 5614.84 . AB=0.469097;ABP=8.24455;AC=1;AF=0.5;AN=2;AO=296;CIGAR=1X;DP=631;DPB=631;DPRA=0;EPP=8.76177;EPPR=5.43724;GTI=0;LEN=1;MEANALT=3;MQM=39.6284;MQMR=39.0836;NS=1;NUMALT=1;ODDS=1292.87;PAIRED=0.956081;PAIREDR=0.947368;PAO=0;PQA=0;PQR=0;PRO=0;QA=8962;QR=9962;RO=323;RPL=77;RPP=150.935;RPPR=114.885;RPR=219;RUN=1;SAF=135;SAP=7.96947;SAR=161;SF=1;SRF=131;SRP=28.0259;SRR=192;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon12:c.A1621G:p.S541G,LAMA2:NM_001079823:exon12:c.A1621G:p.S541G;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0036;1000g2015aug_all=0.000399361;avsnp147=rs141363186;Kaviar_AF=0.0019728;Kaviar_AC=305;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0003;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0026;ExAC_OTH=0.0011;ExAC_SAS=0.0016;CLNALLELEID=98846;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.043;SIFT_pred=D;Polyphen2_HDIV_score=0.02;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.853;LRT_pred=N;MutationTaster_score=0.970;MutationTaster_pred=N;MutationAssessor_score=1.525;MutationAssessor_pred=L;FATHMM_score=1.32;FATHMM_pred=T;PROVEAN_score=-2.2;PROVEAN_pred=N;VEST3_score=0.132;CADD_raw=2.056;CADD_phred=16.57;DANN_score=0.988;fathmm-MKL_coding_score=0.607;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.970;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-0.473;phyloP7way_vertebrate=-0.701;phyloP20way_mammalian=0.119;phastCons7way_vertebrate=0.923;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.358;GDI_full_10282015=.;dpsi_max_tissue=-0.1695;dpsi_zscore=-0.624;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0023;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-584.191,0,-653.719:631:323:296:8962:9962:323,296 . . . . chr6 129513850 . T A 4757.99 . AB=0.512987;ABP=3.68712;AC=2;AF=0.5;AN=4;AO=237;CIGAR=1X;DP=1279;DPB=462;DPRA=0;EPP=7.05089;EPPR=5.9845;GTI=0;LEN=1;MEANALT=3;MQM=35.4388;MQMR=35.0379;NS=1;NUMALT=1;ODDS=759.935;PAIRED=0.852321;PAIREDR=0.881517;PAO=0;PQA=0;PQR=0;PRO=0;QA=6839;QR=6147;RO=211;RPL=71;RPP=85.7003;RPPR=23.8503;RPR=166;RUN=1;SAF=112;SAP=4.55873;SAR=125;SF=0,1;SRF=91;SRP=11.6653;SRR=120;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon12:c.T1634A:p.L545Q,LAMA2:NM_001079823:exon12:c.T1634A:p.L545Q;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0070;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0070;1000g2015aug_all=0.00159744;avsnp147=rs118083923;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0014;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0043;ExAC_OTH=0.0033;ExAC_SAS=0.0008;CLNALLELEID=98847;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.879;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_pred=D;VEST3_score=0.807;CADD_raw=5.154;CADD_phred=25.4;DANN_score=0.996;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.781;MetaSVM_pred=T;MetaLR_score=0.159;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.42;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.840;phastCons20way_mammalian=0.894;SiPhy_29way_logOdds=15.450;GDI_full_10282015=.;dpsi_max_tissue=-0.0812;dpsi_zscore=-0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0030;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0120;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0019;gnomAD_exome_NFE=0.0044;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0056;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . 0/1:-418.729,0,-340.819:462:211:237:6839:6147 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-859.495,0,-841.048:817:402:412:13061:12685:402,412 . . . . . . . . . . chr6 129571272 . G A 10769.08 . AB=0.476048;ABP=9.66775;AC=5;AF=0.5;AN=10;AO=636;CIGAR=1X;DP=5989;DPB=1336;DPRA=0;EPP=92.6143;EPPR=72.5007;GTI=0;LEN=1;MEANALT=3;MQM=40.3884;MQMR=40.1096;NS=1;NUMALT=1;ODDS=2826.84;PAIRED=0.981132;PAIREDR=0.975647;PAO=0;PQA=0;PQR=0;PRO=0;QA=18887;QR=19428;RO=657;RPL=262;RPP=45.8388;RPPR=53.0137;RPR=374;RUN=1;SAF=313;SAP=3.35173;SAR=323;SF=0,1;SRF=353;SRP=10.9459;SRR=304;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon13:c.G1798A:p.G600R,LAMA2:NM_001079823:exon13:c.G1798A:p.G600R;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0206;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0206;1000g2015aug_all=0.00958466;avsnp147=rs36044314;Kaviar_AF=0.0133633;Kaviar_AC=2066;Kaviar_AN=154602;ExAC_ALL=0.0132;ExAC_AFR=0.0035;ExAC_AMR=0.0072;ExAC_EAS=0.0006;ExAC_FIN=0.0092;ExAC_NFE=0.0172;ExAC_OTH=0.0121;ExAC_SAS=0.0156;CLNALLELEID=98848;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.031;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.365;MutationAssessor_pred=M;FATHMM_score=1.1;FATHMM_pred=T;PROVEAN_score=-6.58;PROVEAN_pred=D;VEST3_score=0.397;CADD_raw=6.614;CADD_phred=32;DANN_score=0.999;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.683;MetaSVM_pred=T;MetaLR_score=0.237;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.69;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=18.951;GDI_full_10282015=.;dpsi_max_tissue=0.5450;dpsi_zscore=1.176;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0139;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0086;gnomAD_exome_ASJ=0.0281;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0085;gnomAD_exome_NFE=0.0180;gnomAD_exome_OTH=0.0146;gnomAD_exome_SAS=0.0164;gnomAD_genome_ALL=0.0109;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0074;gnomAD_genome_NFE=0.0169;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1249.29,0,-1290.12:1336:657:636:18887:19428 . . . 0/1:-1024.97,0,-1415.12:1268:680:553:16245:20696 . . . . 0/1:-1268.9,0,-1182.36:1323:624:654:19228:18192 . . . . . . . . 0/1:-955.217,0,-1011.06:1041:522:488:14666:15286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-979.093,0,-1099.37:1021:522:473:14694:16025:522,473 . . . . . . . . . . . . . . . . . chr6 129571330 . G A 9841.02 . AB=0.472615;ABP=10.3841;AC=31;AF=0.5;AN=58;AO=535;CIGAR=1X;DP=28201;DPB=1132;DPRA=0;EPP=11.2294;EPPR=6.35675;GTI=0;LEN=1;MEANALT=3;MQM=39.4505;MQMR=39.899;NS=1;NUMALT=1;ODDS=2437.4;PAIRED=0.966355;PAIREDR=0.958904;PAO=0;PQA=0;PQR=0;PRO=0;QA=16565;QR=18053;RO=584;RPL=316;RPP=41.1998;RPPR=40.193;RPR=219;RUN=1;SAF=225;SAP=32.3353;SAR=310;SF=0,1;SRF=249;SRP=30.5107;SRR=335;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon13:c.G1856A:p.R619H,LAMA2:NM_001079823:exon13:c.G1856A:p.R619H;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.2697;esp6500siv2_ea=0.14;esp6500siv2_all=0.2697;esp6500siv2_ea=0.14;1000g2015aug_all=0.270966;avsnp147=rs3816665;Kaviar_AF=0.177811;Kaviar_AC=27490;Kaviar_AN=154602;ExAC_ALL=0.1828;ExAC_AFR=0.5435;ExAC_AMR=0.1276;ExAC_EAS=0.0832;ExAC_FIN=0.1884;ExAC_NFE=0.1346;ExAC_OTH=0.1925;ExAC_SAS=0.2376;CLNALLELEID=98850;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.287;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.233;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=1.26;FATHMM_pred=T;PROVEAN_score=0.05;PROVEAN_pred=N;VEST3_score=0.049;CADD_raw=-0.271;CADD_phred=0.771;DANN_score=0.731;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.045;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=-5.14;phyloP7way_vertebrate=-0.444;phyloP20way_mammalian=-3.167;phastCons7way_vertebrate=0.334;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=16.131;GDI_full_10282015=.;dpsi_max_tissue=-1.3925;dpsi_zscore=-1.670;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1735;gnomAD_exome_AFR=0.5444;gnomAD_exome_AMR=0.1191;gnomAD_exome_ASJ=0.1573;gnomAD_exome_EAS=0.0780;gnomAD_exome_FIN=0.1899;gnomAD_exome_NFE=0.1358;gnomAD_exome_OTH=0.1571;gnomAD_exome_SAS=0.2347;gnomAD_genome_ALL=0.2530;gnomAD_genome_AFR=0.5371;gnomAD_genome_AMR=0.1089;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.0803;gnomAD_genome_FIN=0.1869;gnomAD_genome_NFE=0.1374;gnomAD_genome_OTH=0.1762;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1074.62,0,-1210.18:1132:584:535:16565:18053 0/1:-748.281,0,-750.961:735:365:354:11178:11125 . . . 1/1:-2900.08,-284.106,0:1190:27:1141:34727:810 . . 0/1:-802.255,0,-1109.56:975:541:420:12800:16508 . 0/1:-961.879,0,-1099.27:1041:536:491:14950:16345 . 0/1:-796.492,0,-934.369:893:467:406:12488:13974 . . . . 0/1:-806.098,0,-893.1:844:430:404:12390:13305 . . 0/1:-667.727,0,-741.01:712:357:341:10298:11045 . . . 0/1:-974.267,0,-1196.14:1079:572:492:15329:17803 . . . . . . 1/1:-866.219,-79.5,0:367:13:347:10451:337 . . 0/1:-405.702,0,-572.559:490:273:208:6381:8343 0/1:-1190.34,0,-1260.95:1215:598:599:18036:19039 . . 0/1:-1375.9,0,-1410.95:1384:682:683:20817:21442 . 0/1:-883.893,0,-1215.26:1059:582:461:14070:17989 . . 0/1:-1251.06,0,-1208.5:1248:587:631:19101:18241 0/1:-964.555,0,-1077.77:1025:520:486:14691:16236 0/1:-558.147,0,-621.67:570:292:269:8327:9179 . . . . . . . . 0/1:-1158.11,0,-1201.92:1174:581:576:17708:18026 . . 0/1:-1037.5,0,-1089.47:1076:535:520:15809:16432 . 0/1:-1454.56,0,-1408.24:1447:699:716:22004:21313 . . . . . 0/1:-1175.23,0,-1119.56:1126:550:561:17579:17039 . . . . . 0/1:-699.067,0,-800.932:834:426:392:11317:12399 . . . . . . 0/1:-1129.01,0,-1278.66:1225:615:585:17436:19026 . 0/1:-1252.79,0,-1305.86:1303:642:640:19379:19724 . . . . . . . . . . 0/1:-1151.82,0,-1067.44:1133:535:581:17551:16422 . . . 0/1:-934.499,0,-847.202:833:393:428:13626:12629:393,428 . . . . 0/1:-674.247,0,-805.236:707:369:328:10207:11662:369,328 . . . . . . . . . . 0/1:-757.171,0,-722.633:708:348:353:11133:10873:348,353 0/1:-652.771,0,-762.026:676:357:307:9774:11099:357,307 . chr6 129601231 . C T 16391.57 . AB=0.47468;ABP=13.017;AC=2;AF=0.5;AN=4;AO=853;CIGAR=1X;DP=3247;DPB=1797;DPRA=0;EPP=19.7126;EPPR=29.4055;GTI=0;LEN=1;MEANALT=3;MQM=39.1946;MQMR=39.6637;NS=1;NUMALT=1;ODDS=3811.84;PAIRED=0.966002;PAIREDR=0.968026;PAO=0;PQA=0;PQR=0;PRO=0;QA=26269;QR=27379;RO=907;RPL=563;RPP=192.738;RPPR=144.381;RPR=290;RUN=1;SAF=297;SAP=173.778;SAR=556;SF=0,1;SRF=330;SRP=149.074;SRR=577;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon18:c.C2476T:p.R826W,LAMA2:NM_001079823:exon18:c.C2476T:p.R826W;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0064;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0064;1000g2015aug_all=0.00319489;avsnp147=rs118147866;Kaviar_AF=0.0048318;Kaviar_AC=747;Kaviar_AN=154602;ExAC_ALL=0.0050;ExAC_AFR=0.0012;ExAC_AMR=0.0012;ExAC_EAS=0.0002;ExAC_FIN=0.0226;ExAC_NFE=0.0062;ExAC_OTH=0.0022;ExAC_SAS=0.0012;CLNALLELEID=176970;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.021;SIFT_pred=D;Polyphen2_HDIV_score=0.027;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.265;LRT_pred=N;MutationTaster_score=0.779;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.08;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_pred=D;VEST3_score=0.251;CADD_raw=5.122;CADD_phred=25.4;DANN_score=0.998;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.030;MetaSVM_pred=T;MetaLR_score=0.073;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=3.62;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.939;phastCons20way_mammalian=0.985;SiPhy_29way_logOdds=8.098;GDI_full_10282015=.;dpsi_max_tissue=-3.3755;dpsi_zscore=-2.234;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0240;gnomAD_exome_NFE=0.0060;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0070;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0229;gnomAD_genome_NFE=0.0076;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1702.52,0,-1810.29:1797:907:853:26269:27379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1586.6,0,-1413.25:1450:695:732:23267:21090:695,732 . chr6 129612765 . G T 9895.75 . AB=0.512124;ABP=4.32666;AC=1;AF=0.5;AN=2;AO=528;CIGAR=1X;DP=1031;DPB=1031;DPRA=0;EPP=6.71167;EPPR=6.64093;GTI=0;LEN=1;MEANALT=1;MQM=39.2898;MQMR=39.5109;NS=1;NUMALT=1;ODDS=2263.81;PAIRED=0.952652;PAIREDR=0.978131;PAO=0;PQA=0;PQR=0;PRO=0;QA=15471;QR=15258;RO=503;RPL=291;RPP=15.0027;RPPR=3.04915;RPR=237;RUN=1;SAF=228;SAP=24.3302;SAR=300;SF=0;SRF=227;SRP=13.3755;SRR=276;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon20:c.G2756T:p.R919L,LAMA2:NM_001079823:exon20:c.G2756T:p.R919L;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0458;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0458;esp6500siv2_ea=0.0010;1000g2015aug_all=0.0463259;avsnp147=rs35277491;Kaviar_AF=0.0136674;Kaviar_AC=2113;Kaviar_AN=154602;ExAC_ALL=0.0143;ExAC_AFR=0.1420;ExAC_AMR=0.0069;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0.0056;ExAC_SAS=0.0068;CLNALLELEID=98855;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.322;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.626;MutationTaster_pred=N;MutationAssessor_score=0.395;MutationAssessor_pred=N;FATHMM_score=0.08;FATHMM_pred=T;PROVEAN_score=-2.67;PROVEAN_pred=D;VEST3_score=0.074;CADD_raw=2.558;CADD_phred=19.84;DANN_score=0.978;fathmm-MKL_coding_score=0.270;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.060;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-1.89;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=-1.671;phastCons7way_vertebrate=0.890;phastCons20way_mammalian=0.599;SiPhy_29way_logOdds=4.729;GDI_full_10282015=.;dpsi_max_tissue=-0.1242;dpsi_zscore=-0.518;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0113;gnomAD_exome_AFR=0.1411;gnomAD_exome_AMR=0.0080;gnomAD_exome_ASJ=0.0020;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0392;gnomAD_genome_AFR=0.1363;gnomAD_genome_AMR=0.0108;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1001.39,0,-992.647:1031:503:528:15471:15258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129612808 . A G 13182.72 . AB=0.512573;ABP=4.42995;AC=58;AF=0.5;AN=98;AO=530;CIGAR=1X;DP=52848;DPB=1034;DPRA=0;EPP=58.1411;EPPR=46.1799;GTI=0;LEN=1;MEANALT=3;MQM=38.3226;MQMR=39.783;NS=1;NUMALT=1;ODDS=2206.19;PAIRED=0.911321;PAIREDR=0.939148;PAO=0;PQA=0;PQR=0;PRO=0;QA=16008;QR=15174;RO=493;RPL=339;RPP=92.7536;RPPR=157.035;RPR=191;RUN=1;SAF=246;SAP=8.92654;SAR=284;SF=0,1;SRF=198;SRP=44.4533;SRR=295;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon20:c.A2799G:p.Q933Q,LAMA2:NM_001079823:exon20:c.A2799G:p.Q933Q;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.2584;esp6500siv2_ea=0.2272;esp6500siv2_all=0.2584;esp6500siv2_ea=0.2272;1000g2015aug_all=0.313898;avsnp147=rs1027199;Kaviar_AF=0.260501;Kaviar_AC=40274;Kaviar_AN=154602;ExAC_ALL=0.2683;ExAC_AFR=0.3266;ExAC_AMR=0.2813;ExAC_EAS=0.4405;ExAC_FIN=0.2884;ExAC_NFE=0.2253;ExAC_OTH=0.2754;ExAC_SAS=0.2976;CLNALLELEID=98856;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0155;dpsi_zscore=-0.075;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2691;gnomAD_exome_AFR=0.3302;gnomAD_exome_AMR=0.2705;gnomAD_exome_ASJ=0.2344;gnomAD_exome_EAS=0.4346;gnomAD_exome_FIN=0.2899;gnomAD_exome_NFE=0.2253;gnomAD_exome_OTH=0.2610;gnomAD_exome_SAS=0.3006;gnomAD_genome_ALL=0.2719;gnomAD_genome_AFR=0.3228;gnomAD_genome_AMR=0.2524;gnomAD_genome_ASJ=0.2067;gnomAD_genome_EAS=0.4294;gnomAD_genome_FIN=0.2984;gnomAD_genome_NFE=0.2232;gnomAD_genome_OTH=0.2459;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1033.33,0,-990.625:1034:493:530:16008:15174 . 0/1:-960.254,0,-1113.23:1091:552:507:15103:16914 . . 0/1:-1267.01,0,-1080.39:1175:545:618:18899:16653 0/1:-830.7,0,-899.278:873:440:414:12650:13565 . 0/1:-1032.62,0,-973.006:1034:491:516:15772:15154 . 0/1:-912.415,0,-1097.04:1015:534:469:14326:16467 0/1:-890.254,0,-792.489:928:425:485:14134:12874 0/1:-896.396,0,-970.631:968:491:453:13858:14842 0/1:-1566.45,0,-1426.67:1499:703:764:23652:22061 . . 0/1:-1167.02,0,-1037:1111:515:574:17729:16069 0/1:-852.482,0,-839.81:881:424:441:13225:12939 . . 1/1:-1566.47,-158.208,0:690:16:658:19191:522 . . 0/1:-836.349,0,-771.192:831:399:413:12618:12112 . . . . 0/1:-964.281,0,-939.635:991:476:498:15028:14662 0/1:-1344.65,0,-1328.93:1344:651:672:20680:20452 . 1/1:-1243.61,-123.134,0:529:14:505:14929:396 . 0/1:-1136.53,0,-1293.88:1219:618:577:17717:19437 . . . 0/1:-537.965,0,-579.325:553:272:274:8301:8681 0/1:-1448.34,0,-1357.04:1416:680:712:21901:20946 . 0/1:-979.268,0,-1109.28:1038:519:501:15321:16637 0/1:-1066.47,0,-1024.33:1060:515:535:16345:15863 . 1/1:-3043.08,-328.437,0:1221:13:1194:36329:407 0/1:-995.069,0,-825.42:951:421:511:15082:12980 1/1:-1510.7,-167.935,0:608:5:597:17888:150 . 0/1:-1344.81,0,-1373.1:1368:665:681:20580:20806 . 1/1:-2693.44,-308.38,0:1123:11:1090:32521:265 0/1:-1301.69,0,-1452.07:1347:681:644:19998:21475 . 0/1:-742.447,0,-855.404:844:420:396:11990:13125 . 1/1:-2348.77,-254.291,0:945:12:924:28016:347 . . 0/1:-995.422,0,-954.354:1006:468:509:15263:14666 . 0/1:-1384.29,0,-1406.11:1407:688:691:21080:21439 . . . 0/1:-1240.7,0,-1120.11:1173:544:608:18617:16974 0/1:-646.152,0,-494.345:625:278:332:9872:8334 . . . 0/1:-972.458,0,-1134.11:1071:559:490:15007:17240 0/1:-1556.41,0,-1270.69:1396:629:746:23103:19762 . . . . . . . . 0/1:-1230.68,0,-1061.5:1182:544:616:18462:16793 . 1/1:-3285.54,-372.638,0:1313:10:1282:38873:209 . 0/1:-812.614,0,-781.938:871:416:435:12590:12549 0/1:-863.633,0,-868.726:893:427:448:13393:13205 . . . 0/1:-1048.56,0,-1043.43:1081:520:536:16266:16182 . . . . . . 0/1:-1258.65,0,-1208.03:1154:559:578:18453:17958:559,578 0/1:-1416.34,0,-1554.68:1404:719:666:21183:22787:719,666 . . 1/1:-3312.51,-336.265,0:1267:17:1232:38583:476:17,1232 1/1:-3924.11,-369.651,0:1486:26:1441:46358:843:26,1441 0/1:-1201.73,0,-1275.73:1179:596:567:17924:18807:596,567 . . 0/1:-1276.44,0,-1260.71:1190:587:587:18868:18677:587,587 . . 0/1:-1172.49,0,-1290.66:1142:585:543:17446:18769:585,543 . . . . 0/1:-1172.3,0,-1279.48:1153:591:552:17533:18774:591,552 0/1:-1302.76,0,-1161.67:1168:551:600:19068:17365:551,600 . chr6 129612840 . A G 6141.32 . AB=0.473389;ABP=7.40191;AC=1;AF=0.5;AN=2;AO=338;CIGAR=1X;DP=714;DPB=714;DPRA=0;EPP=48.3414;EPPR=39.3049;GTI=0;LEN=1;MEANALT=3;MQM=39.071;MQMR=39.3874;NS=1;NUMALT=1;ODDS=1414.09;PAIRED=0.949704;PAIREDR=0.972527;PAO=0;PQA=0;PQR=0;PRO=0;QA=9858;QR=11606;RO=364;RPL=179;RPP=5.58009;RPPR=6.44648;RPR=159;RUN=1;SAF=136;SAP=30.9953;SAR=202;SF=0;SRF=163;SRP=11.6246;SRR=201;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon20:c.A2831G:p.Q944R,LAMA2:NM_001079823:exon20:c.A2831G:p.Q944R;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs141920360;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.143e-05;ExAC_AFR=0;ExAC_AMR=8.708e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.028e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=192622;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.039;SIFT_pred=D;Polyphen2_HDIV_score=0.855;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.359;Polyphen2_HVAR_pred=B;LRT_score=0.459;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_pred=N;MutationAssessor_score=1.715;MutationAssessor_pred=L;FATHMM_score=0.1;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_pred=N;VEST3_score=0.156;CADD_raw=2.039;CADD_phred=16.46;DANN_score=0.992;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.072;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.41;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.197;phastCons7way_vertebrate=0.449;phastCons20way_mammalian=0.166;SiPhy_29way_logOdds=5.548;GDI_full_10282015=.;dpsi_max_tissue=0.1061;dpsi_zscore=0.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.467e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.057e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-629.583,0,-772.911:714:364:338:9858:11606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129634255 . G A 5119.56 . AB=0.452514;ABP=13.528;AC=41;AF=0.5;AN=78;AO=243;CIGAR=1X;DP=20192;DPB=537;DPRA=0;EPP=38.4777;EPPR=34.3284;GTI=0;LEN=1;MEANALT=3;MQM=39.1317;MQMR=39.75;NS=1;NUMALT=1;ODDS=1021.27;PAIRED=0.967078;PAIREDR=0.971831;PAO=0;PQA=0;PQR=0;PRO=0;QA=7330;QR=8413;RO=284;RPL=175;RPP=105.32;RPPR=144.431;RPR=68;RUN=1;SAF=85;SAP=50.6308;SAR=158;SF=0,1;SRF=100;SRP=56.9607;SRR=184;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.2277;esp6500siv2_ea=0.1241;esp6500siv2_all=0.2277;esp6500siv2_ea=0.1241;1000g2015aug_all=0.355232;avsnp147=rs3798663;Kaviar_AF=0.205748;Kaviar_AC=31809;Kaviar_AN=154602;ExAC_ALL=0.2190;ExAC_AFR=0.4581;ExAC_AMR=0.3524;ExAC_EAS=0.5527;ExAC_FIN=0.1563;ExAC_NFE=0.1228;ExAC_OTH=0.1856;ExAC_SAS=0.2075;CLNALLELEID=98858;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1657;dpsi_zscore=0.652;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2206;gnomAD_exome_AFR=0.4656;gnomAD_exome_AMR=0.3434;gnomAD_exome_ASJ=0.1538;gnomAD_exome_EAS=0.5546;gnomAD_exome_FIN=0.1553;gnomAD_exome_NFE=0.1228;gnomAD_exome_OTH=0.2019;gnomAD_exome_SAS=0.1860;gnomAD_genome_ALL=0.2465;gnomAD_genome_AFR=0.4602;gnomAD_genome_AMR=0.3146;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.5412;gnomAD_genome_FIN=0.1478;gnomAD_genome_NFE=0.1187;gnomAD_genome_OTH=0.1561;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-470.489,0,-568.78:537:284:243:7330:8413 . . 0/1:-541.996,0,-605.674:583:293:272:8347:8991 . . 0/1:-370.237,0,-456.66:430:230:194:5933:6884 0/1:-467.64,0,-527.038:495:248:233:7120:7819 . 0/1:-384.098,0,-481.932:464:247:204:6200:7352 . 0/1:-655.711,0,-659.374:667:328:323:10078:9988 . . . 0/1:-373.503,0,-345.089:365:171:186:5727:5282 0/1:-389.097,0,-448.702:436:219:203:6080:6722 . . 0/1:-579.836,0,-658.516:602:310:285:8801:9722 0/1:-604.56,0,-517.942:574:271:292:9118:8078 0/1:-346.153,0,-342.497:368:175:183:5412:5307 . 0/1:-612.706,0,-539.961:612:279:314:9230:8435 . . 0/1:-434.625,0,-426.819:453:219:224:6711:6506 0/1:-564.3,0,-535.596:558:269:282:8574:8199 . . . 0/1:-421.392,0,-599.982:535:298:227:6878:9061 . 0/1:-527.09,0,-386.473:477:204:256:7756:6156 . 0/1:-292.638,0,-313.229:315:158:148:4498:4703 . 0/1:-495.549,0,-415.545:471:215:243:7299:6541 . 0/1:-496.528,0,-482.489:506:249:250:7598:7491 0/1:-676.068,0,-642.978:665:324:332:10217:9785 1/1:-1163.94,-108.802,0:513:15:480:14245:456 . 0/1:-322.611,0,-232.713:289:126:159:4742:3710 . 0/1:-626.1,0,-477.139:566:239:310:9343:7555 . 0/1:-500.526,0,-442.968:495:230:247:7540:6947 0/1:-578.566,0,-658.014:611:316:290:8799:9916 . 0/1:-302.838,0,-426.834:393:215:163:4989:6349 . . . 0/1:-331.461,0,-369.64:372:191:172:5198:5581 . . . . . . 0/1:-561.397,0,-562.78:581:278:286:8591:8552 0/1:-278.785,0,-318.458:324:162:158:4528:5000 . . . . 0/1:-603.1,0,-611.738:611:299:302:9139:9144 . . . . . . . . . . . . . . . . . 0/1:-510.768,0,-497.527:505:237:253:7721:7461 . . 1/1:-1354.2,-138.721,0:558:12:531:16277:328 . . . 0/1:-700.886,0,-682.529:638:313:320:10254:10078:313,320 . . . . 0/1:-756.237,0,-816.379:729:369:357:11321:11876:369,357 0/1:-543.642,0,-760.238:607:342:257:8376:10944:342,257 . 0/1:-616.781,0,-628.87:579:292:284:9183:9223:292,284 0/1:-557.548,0,-713.362:590:327:260:8478:10314:327,260 . . 0/1:-611.861,0,-634.728:587:295:288:9159:9436:295,288 . . . . . 0/1:-576.123,0,-599.462:531:272:255:8423:8680:272,255 . chr6 129635800 . G A 8349.04 . AB=0.490494;ABP=3.83595;AC=10;AF=0.5;AN=20;AO=516;CIGAR=1X;DP=9998;DPB=1052;DPRA=0;EPP=167.992;EPPR=91.6419;GTI=0;LEN=1;MEANALT=3;MQM=38.7694;MQMR=39.0858;NS=1;NUMALT=1;ODDS=2054.29;PAIRED=0.967054;PAIREDR=0.928144;PAO=0;PQA=0;PQR=0;PRO=0;QA=14511;QR=14730;RO=501;RPL=232;RPP=14.3895;RPPR=64.388;RPR=284;RUN=1;SAF=327;SAP=83.1528;SAR=189;SF=0,1;SRF=304;SRP=52.6334;SRR=197;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon24:c.G3412A:p.V1138M,LAMA2:NM_001079823:exon24:c.G3412A:p.V1138M;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0911;esp6500siv2_ea=0.0469;esp6500siv2_all=0.0911;esp6500siv2_ea=0.0469;1000g2015aug_all=0.120008;avsnp147=rs2306942;Kaviar_AF=0.066047;Kaviar_AC=10211;Kaviar_AN=154602;ExAC_ALL=0.0687;ExAC_AFR=0.1937;ExAC_AMR=0.0500;ExAC_EAS=0.1486;ExAC_FIN=0.0308;ExAC_NFE=0.0415;ExAC_OTH=0.0668;ExAC_SAS=0.0868;CLNALLELEID=98859;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.07;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_pred=N;MutationTaster_score=0.002;MutationTaster_pred=P;MutationAssessor_score=1.68;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=2.722;CADD_phred=20.9;DANN_score=0.997;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.053;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.72;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=8.921;GDI_full_10282015=.;dpsi_max_tissue=-0.1439;dpsi_zscore=-0.567;hgmdCODING=HGMD::Muscular_dystrophy,_merosin_deficient#19294599;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM087682#"Muscular_dystrophy_merosin_deficient";gnomAD_exome_ALL=0.0648;gnomAD_exome_AFR=0.1917;gnomAD_exome_AMR=0.0492;gnomAD_exome_ASJ=0.0507;gnomAD_exome_EAS=0.1491;gnomAD_exome_FIN=0.0301;gnomAD_exome_NFE=0.0427;gnomAD_exome_OTH=0.0604;gnomAD_exome_SAS=0.0826;gnomAD_genome_ALL=0.0849;gnomAD_genome_AFR=0.1852;gnomAD_genome_AMR=0.0632;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.1432;gnomAD_genome_FIN=0.0223;gnomAD_genome_NFE=0.0398;gnomAD_genome_OTH=0.0429;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-926.311,0,-941.297:1052:501:516:14511:14730 . . . 0/1:-839.67,0,-931.041:958:475:450:13165:14302 . . . . . . . . . . . 0/1:-867.649,0,-1198.71:1140:614:487:14117:17988 0/1:-926.48,0,-1022.64:1087:546:506:14646:15856 . . 0/1:-950.112,0,-1101.49:1124:568:521:15008:16954 . . . . . . . . . 0/1:-853.466,0,-982.931:1028:507:480:13693:15318 . . . 0/1:-747.914,0,-658.995:783:354:404:11779:10562 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-738.377,0,-1034.74:993:537:430:12283:15761 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-788.731,0,-925.569:973:487:454:12799:14462 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-943.979,0,-832.844:860:406:442:14099:12563:406,442 . chr6 129636606 . T G 5658.34 . AB=0.493151;ABP=3.30776;AC=5;AF=0.5;AN=10;AO=360;CIGAR=1X;DP=3240;DPB=730;DPRA=0;EPP=10.8276;EPPR=75.9114;GTI=0;LEN=1;MEANALT=3;MQM=37.7056;MQMR=38.2371;NS=1;NUMALT=1;ODDS=1440.87;PAIRED=0.961111;PAIREDR=0.956403;PAO=0;PQA=0;PQR=0;PRO=0;QA=10470;QR=10923;RO=367;RPL=128;RPP=68.251;RPPR=3.72624;RPR=232;RUN=1;SAF=232;SAP=68.251;SAR=128;SF=0,1;SRF=237;SRP=70.752;SRR=130;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0037;esp6500siv2_ea=0.005;esp6500siv2_all=0.0037;esp6500siv2_ea=0.005;1000g2015aug_all=0.0081869;avsnp147=rs17741922;Kaviar_AF=0.0085381;Kaviar_AC=1320;Kaviar_AN=154602;ExAC_ALL=0.0092;ExAC_AFR=0.0012;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0115;ExAC_NFE=0.0083;ExAC_OTH=0.0044;ExAC_SAS=0.0284;CLNALLELEID=98860;CLNDN=not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0654;dpsi_zscore=0.363;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0080;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0048;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0121;gnomAD_exome_NFE=0.0071;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0263;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0126;gnomAD_genome_NFE=0.0053;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-647.413,0,-693.769:730:367:360:10470:10923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-540.405,0,-615.53:622:312:305:8523:9492 . . . . . . . . . . . . . 0/1:-738.37,0,-710.057:762:359:392:11401:11045 . . . . . . . . . . . . . . . 0/1:-373.377,0,-519.7:478:262:210:6073:7874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-645.866,0,-774.613:648:346:300:9806:11118:346,300 . . . . . . . . . . . . . . . . . chr6 129636647 . T C 5346.97 . AB=0.448175;ABP=18.9904;AC=1;AF=0.5;AN=2;AO=307;CIGAR=1X;DP=685;DPB=685;DPRA=0;EPP=49.4176;EPPR=50.8063;GTI=0;LEN=1;MEANALT=3;MQM=38.3974;MQMR=39.0707;NS=1;NUMALT=1;ODDS=1231.19;PAIRED=0.973941;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=9256;QR=11518;RO=368;RPL=90;RPP=117.094;RPPR=82.4107;RPR=217;RUN=1;SAF=222;SAP=135.767;SAR=85;SF=0;SRF=271;SRP=181.661;SRR=97;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon25:c.T3582C:p.I1194I,LAMA2:NM_001079823:exon25:c.T3582C:p.I1194I;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs137962409;Kaviar_AF=0.000511;Kaviar_AC=79;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=9.61e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0010;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=501527;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0328;dpsi_zscore=0.213;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-573.539,0,-766.013:685:368:307:9256:11518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129636948 . C T 7873.52 . AB=0.504902;ABP=3.18061;AC=1;AF=0.5;AN=2;AO=412;CIGAR=1X;DP=816;DPB=816;DPRA=0;EPP=40.1994;EPPR=9.77888;GTI=0;LEN=1;MEANALT=3;MQM=38.0898;MQMR=39.4962;NS=1;NUMALT=1;ODDS=1812.94;PAIRED=0.978155;PAIREDR=0.989822;PAO=0;PQA=0;PQR=0;PRO=0;QA=12491;QR=12281;RO=393;RPL=235;RPP=20.7405;RPPR=3.28104;RPR=177;RUN=1;SAF=173;SAP=25.9689;SAR=239;SF=0;SRF=153;SRP=44.8319;SRR=240;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon26:c.C3777T:p.F1259F,LAMA2:NM_001079823:exon26:c.C3777T:p.F1259F;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774723745;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.649e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.001e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.5925;dpsi_zscore=-2.274;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.438e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.687e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-803.028,0,-805.701:816:393:412:12491:12281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129663463 . ACTTCTTC ACTTC 5912.47 . AB=0.46317;ABP=13.5671;AC=1;AF=0.5;AN=2;AO=415;CIGAR=1M3D4M;DP=896;DPB=734;DPRA=0;EPP=3.64343;EPPR=5.59895;GTI=0;LEN=3;MEANALT=29;MQM=38.5639;MQMR=40.9089;NS=1;NUMALT=1;ODDS=1361.4;PAIRED=0.963855;PAIREDR=0.965517;PAO=6.5;PQA=143;PQR=167;PRO=7.5;QA=9851;QR=12794;RO=406;RPL=198;RPP=4.89922;RPPR=15.3331;RPR=217;RUN=1;SAF=278;SAP=107.037;SAR=137;SF=0;SRF=267;SRP=90.6394;SRR=139;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-609.883,0,-868.318:896:406:415:9851:12794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129670438 . T A 5106.72 . AB=0.440967;ABP=24.2895;AC=2;AF=0.5;AN=4;AO=310;CIGAR=1X;DP=1480;DPB=703;DPRA=0;EPP=57.2551;EPPR=126.114;GTI=0;LEN=1;MEANALT=3;MQM=36.9968;MQMR=39.4628;NS=1;NUMALT=1;ODDS=1026.68;PAIRED=0.96129;PAIREDR=0.960106;PAO=0;PQA=0;PQR=0;PRO=0;QA=8193;QR=10766;RO=376;RPL=123;RPP=31.7018;RPPR=12.2506;RPR=187;RUN=1;SAF=114;SAP=50.1102;SAR=196;SF=0;SRF=139;SRP=58.4752;SRR=237;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0071;esp6500siv2_ea=0.0098;esp6500siv2_all=0.0071;esp6500siv2_ea=0.0098;1000g2015aug_all=0.00279553;avsnp147=rs41285288;Kaviar_AF=0.0059249;Kaviar_AC=916;Kaviar_AN=154602;ExAC_ALL=0.0057;ExAC_AFR=0.0021;ExAC_AMR=0.0038;ExAC_EAS=0;ExAC_FIN=0.0026;ExAC_NFE=0.0083;ExAC_OTH=0.0077;ExAC_SAS=0.0033;CLNALLELEID=98865;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-9.7215;dpsi_zscore=-2.894;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0058;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0153;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0031;gnomAD_genome_ALL=0.0050;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0081;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-467.924,0,-709.03:703:376:310:8193:10766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-605.677,0,-710.483:777:387:361:9734:10831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129670476 . C T 5879.40 . AB=0.448864;ABP=19.0002;AC=2;AF=0.5;AN=4;AO=316;CIGAR=1X;DP=1449;DPB=704;DPRA=0;EPP=8.39775;EPPR=7.56226;GTI=0;LEN=1;MEANALT=3;MQM=36.6709;MQMR=39.4626;NS=1;NUMALT=1;ODDS=1196.77;PAIRED=0.939873;PAIREDR=0.962567;PAO=0;PQA=0;PQR=0;PRO=0;QA=9142;QR=11485;RO=374;RPL=192;RPP=34.7853;RPPR=75.8417;RPR=124;RUN=1;SAF=112;SAP=61.1728;SAR=204;SF=0;SRF=124;SRP=95.1876;SRR=250;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon31:c.C4470T:p.D1490D,LAMA2:NM_001079823:exon31:c.C4470T:p.D1490D;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0095;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0095;1000g2015aug_all=0.00299521;avsnp147=rs35089085;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0020;ExAC_AMR=0.0036;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0081;ExAC_OTH=0.0077;ExAC_SAS=0.0022;CLNALLELEID=98866;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.8365;dpsi_zscore=-2.478;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0055;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0151;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0081;gnomAD_exome_OTH=0.0098;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0049;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0079;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-537.985,0,-768.688:704:374:316:9142:11485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-678.54,0,-710.686:745:360:371:10532:10814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129670548 . C T 8093.86 . AB=0.535714;ABP=11.6962;AC=15;AF=0.5;AN=26;AO=420;CIGAR=1X;DP=9476;DPB=784;DPRA=0;EPP=222.412;EPPR=207.857;GTI=0;LEN=1;MEANALT=3;MQM=39.7405;MQMR=39.7437;NS=1;NUMALT=1;ODDS=1602.8;PAIRED=0.954762;PAIREDR=0.938028;PAO=0;PQA=0;PQR=0;PRO=0;QA=13755;QR=11531;RO=355;RPL=295;RPP=152.428;RPPR=128.093;RPR=125;RUN=1;SAF=134;SAP=122.462;SAR=286;SF=0,1;SRF=134;SRP=49.3085;SRR=221;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0800;esp6500siv2_ea=0.0613;esp6500siv2_all=0.0800;esp6500siv2_ea=0.0613;1000g2015aug_all=0.0970447;avsnp147=rs17057158;Kaviar_AF=0.0816872;Kaviar_AC=12629;Kaviar_AN=154602;ExAC_ALL=0.0859;ExAC_AFR=0.1134;ExAC_AMR=0.1910;ExAC_EAS=0.0310;ExAC_FIN=0.0481;ExAC_NFE=0.0632;ExAC_OTH=0.1013;ExAC_SAS=0.1294;CLNALLELEID=98867;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4586;dpsi_zscore=1.089;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0889;gnomAD_exome_AFR=0.1110;gnomAD_exome_AMR=0.1897;gnomAD_exome_ASJ=0.0848;gnomAD_exome_EAS=0.0303;gnomAD_exome_FIN=0.0494;gnomAD_exome_NFE=0.0605;gnomAD_exome_OTH=0.0956;gnomAD_exome_SAS=0.1324;gnomAD_genome_ALL=0.0725;gnomAD_genome_AFR=0.1101;gnomAD_genome_AMR=0.1611;gnomAD_genome_ASJ=0.1;gnomAD_genome_EAS=0.0284;gnomAD_genome_FIN=0.0529;gnomAD_genome_NFE=0.0544;gnomAD_genome_OTH=0.0735;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-938.784,0,-743.868:784:355:420:13755:11531 . . . . 0/1:-716.598,0,-1019.83:786:441:339:11095:14665 0/1:-667.183,0,-775.519:653:346:302:10108:11297 . . . 0/1:-775.19,0,-963.5:774:419:352:11728:13951 . . . . . 0/1:-823.177,0,-981.445:815:424:383:12366:14178 . . . 1/1:-1163.55,-108.511,0:457:9:444:14374:316 . . . . . . . . . . 1/1:-1107.45,-88.3067,0:427:13:413:13575:452 . . . . . . 0/1:-880.617,0,-981.726:833:432:393:13096:14346 . 0/1:-818.425,0,-905.772:795:416:372:12376:13562 . . . . . . . . . . . . . . . . . 0/1:-668.128,0,-592.867:577:270:301:9904:8860 . . . . . . . . . . . . . . . . . . . . . 0/1:-938.655,0,-927.495:862:423:427:14066:13949 . . . . . . . . . . . . . . . . . 0/1:-778.797,0,-1045.48:829:455:367:11926:14914:455,367 . . . . . . . . . . . . 0/1:-874.419,0,-1115.81:884:477:401:13139:15835:477,401 . . chr6 129674296 . T C 6963.64 . AB=0.49941;ABP=3.01286;AC=1;AF=0.5;AN=2;AO=423;CIGAR=1X;DP=847;DPB=847;DPRA=0;EPP=36.6912;EPPR=25.3579;GTI=0;LEN=1;MEANALT=3;MQM=36.8936;MQMR=38.2161;NS=1;NUMALT=1;ODDS=1603.44;PAIRED=0.950355;PAIREDR=0.937186;PAO=0;PQA=0;PQR=0;PRO=0;QA=11862;QR=12516;RO=398;RPL=143;RPP=99.361;RPPR=164.419;RPR=280;RUN=1;SAF=282;SAP=105.07;SAR=141;SF=0;SRF=248;SRP=55.4093;SRR=150;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4558;dpsi_zscore=1.086;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-727.865,0,-795.071:847:398:423:11862:12516 . . . . . . . . . . . . . . . . . . . . . chr6 129674398 . C T 9689.21 . AB=0.47541;ABP=8.45678;AC=1;AF=0.5;AN=2;AO=493;CIGAR=1X;DP=1037;DPB=1037;DPRA=0;EPP=20.4922;EPPR=30.9815;GTI=0;LEN=1;MEANALT=3;MQM=39.2231;MQMR=40.2222;NS=1;NUMALT=1;ODDS=2231.02;PAIRED=0.924949;PAIREDR=0.934866;PAO=0;PQA=0;PQR=0;PRO=0;QA=15271;QR=16426;RO=522;RPL=207;RPP=30.4995;RPPR=49.751;RPR=286;RUN=1;SAF=262;SAP=7.24313;SAR=231;SF=1;SRF=262;SRP=3.02694;SRR=260;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon32:c.C4613T:p.P1538L,LAMA2:NM_001079823:exon32:c.C4613T:p.P1538L;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.425;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.958;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.025;MutationAssessor_pred=L;FATHMM_score=0.13;FATHMM_pred=T;PROVEAN_score=-1.33;PROVEAN_pred=N;VEST3_score=0.683;CADD_raw=4.629;CADD_phred=24.5;DANN_score=0.861;fathmm-MKL_coding_score=0.842;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.897;MetaSVM_pred=T;MetaLR_score=0.181;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.75;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.982;SiPhy_29way_logOdds=13.193;GDI_full_10282015=.;dpsi_max_tissue=-0.5735;dpsi_zscore=-1.162;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.676e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-980.641,0,-1104.19:1037:522:493:15271:16426:522,493 . . . . . . . . chr6 129687396 . G A 6709.51 . AB=0.475684;ABP=6.38961;AC=6;AF=0.5;AN=12;AO=313;CIGAR=1X;DP=4649;DPB=658;DPRA=0;EPP=36.0403;EPPR=3.96363;GTI=0;LEN=1;MEANALT=3;MQM=38.7188;MQMR=38.7073;NS=1;NUMALT=1;ODDS=1339.64;PAIRED=0.961661;PAIREDR=0.963415;PAO=0;PQA=0;PQR=0;PRO=0;QA=9414;QR=9905;RO=328;RPL=114;RPP=53.1345;RPPR=41.2494;RPR=199;RUN=1;SAF=147;SAP=5.51478;SAR=166;SF=0,1;SRF=146;SRP=11.5903;SRR=182;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon33:c.G4750A:p.G1584S,LAMA2:NM_001079823:exon33:c.G4750A:p.G1584S;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0247;esp6500siv2_ea=0.0330;esp6500siv2_all=0.0247;esp6500siv2_ea=0.0330;1000g2015aug_all=0.0101837;avsnp147=rs117781224;Kaviar_AF=0.020362;Kaviar_AC=3148;Kaviar_AN=154602;ExAC_ALL=0.0196;ExAC_AFR=0.0066;ExAC_AMR=0.0095;ExAC_EAS=0;ExAC_FIN=0.0117;ExAC_NFE=0.0290;ExAC_OTH=0.0110;ExAC_SAS=0.0110;CLNALLELEID=98869;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.263;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.928;MutationTaster_pred=N;MutationAssessor_score=0.35;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_pred=T;PROVEAN_score=0.08;PROVEAN_pred=N;VEST3_score=0.041;CADD_raw=2.753;CADD_phred=21.1;DANN_score=0.982;fathmm-MKL_coding_score=0.509;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.015;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=6.326;GDI_full_10282015=.;dpsi_max_tissue=-1.1129;dpsi_zscore=-1.536;hgmdCODING=HGMD::Laminin_alpha_2_chain_deficiency,_partial#12552556;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM030232#"Laminin_alpha_2_chain_deficiency_partial";gnomAD_exome_ALL=0.0195;gnomAD_exome_AFR=0.0061;gnomAD_exome_AMR=0.0114;gnomAD_exome_ASJ=0.0231;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0113;gnomAD_exome_NFE=0.0301;gnomAD_exome_OTH=0.0199;gnomAD_exome_SAS=0.0124;gnomAD_genome_ALL=0.0176;gnomAD_genome_AFR=0.0055;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0117;gnomAD_genome_NFE=0.0282;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-598.044,0,-635.539:658:328:313:9414:9905 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-405.209,0,-550.139:528:278:233:6672:8396 . 0/1:-762.391,0,-846.982:858:432:399:11891:12881 . . . . . . . . . 0/1:-844.62,0,-886.109:943:453:458:13496:13702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-643.475,0,-501.442:556:248:296:9323:7608:248,296 . . . . . . . . . . . . . . . 0/1:-1034.83,0,-1283.77:1106:588:501:15841:18615:588,501 chr6 129691132 . C G 7175.34 . AB=0.48535;ABP=4.47362;AC=15;AF=0.5;AN=26;AO=381;CIGAR=1X;DP=9432;DPB=785;DPRA=0;EPP=3.69993;EPPR=41.2328;GTI=0;LEN=1;MEANALT=3;MQM=38.3123;MQMR=39.9162;NS=1;NUMALT=1;ODDS=1475.41;PAIRED=0.976378;PAIREDR=0.981675;PAO=0;PQA=0;PQR=0;PRO=0;QA=10388;QR=11527;RO=382;RPL=196;RPP=3.69993;RPPR=14.0155;RPR=185;RUN=1;SAF=180;SAP=5.52374;SAR=201;SF=0,1;SRF=159;SRP=26.2939;SRR=223;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon34:c.C4956G:p.T1652T,LAMA2:NM_001079823:exon34:c.C4956G:p.T1652T;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0790;esp6500siv2_ea=0.0615;esp6500siv2_all=0.0790;esp6500siv2_ea=0.0615;1000g2015aug_all=0.0966454;avsnp147=rs17057184;Kaviar_AF=0.0823793;Kaviar_AC=12736;Kaviar_AN=154602;ExAC_ALL=0.0857;ExAC_AFR=0.1111;ExAC_AMR=0.1919;ExAC_EAS=0.0303;ExAC_FIN=0.0477;ExAC_NFE=0.0631;ExAC_OTH=0.1020;ExAC_SAS=0.1298;CLNALLELEID=98870;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5746;dpsi_zscore=1.205;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0885;gnomAD_exome_AFR=0.1080;gnomAD_exome_AMR=0.1894;gnomAD_exome_ASJ=0.0846;gnomAD_exome_EAS=0.0298;gnomAD_exome_FIN=0.0488;gnomAD_exome_NFE=0.0602;gnomAD_exome_OTH=0.0948;gnomAD_exome_SAS=0.1324;gnomAD_genome_ALL=0.0712;gnomAD_genome_AFR=0.1062;gnomAD_genome_AMR=0.1635;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.0277;gnomAD_genome_FIN=0.0524;gnomAD_genome_NFE=0.0541;gnomAD_genome_OTH=0.0713;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-648.856,0,-762.233:785:382:381:10388:11527 . . . . 0/1:-659.429,0,-744.363:754:377:364:10376:11231 0/1:-565.568,0,-673.077:700:347:337:9041:10324 . . . 0/1:-524.016,0,-729.75:686:359:316:8524:11019 . . . . . 0/1:-674.962,0,-793.249:798:396:386:10723:12007 . . . 1/1:-1063.31,-113.117,0:481:12:461:13078:369 . . . . . . . . . . 1/1:-891.381,-90.0452,0:392:12:375:10680:301 . . . . . . 0/1:-896.091,0,-975.909:1055:500:518:14080:15014 . 0/1:-605.077,0,-803.474:773:401:353:9884:12038 . . . . . . . . . . . . . . . . . 0/1:-380.049,0,-516.965:502:269:226:6341:7844 . . . . . . . . . . . . . . . . . . . . . 0/1:-777.85,0,-745.518:834:389:434:11893:11857 . . . . . . . . . . . . . . . . . 0/1:-851.549,0,-825.531:812:394:413:12491:12278:394,413 . . . . . . . . . . . . 0/1:-866.401,0,-866.978:860:419:431:12954:12983:419,431 . . chr6 129704290 . C T 7492.27 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=432;CIGAR=1X;DP=864;DPB=864;DPRA=0;EPP=10.2686;EPPR=8.13754;GTI=0;LEN=1;MEANALT=3;MQM=38.3403;MQMR=39.3563;NS=1;NUMALT=1;ODDS=1725.16;PAIRED=0.962963;PAIREDR=0.982801;PAO=0;PQA=0;PQR=0;PRO=0;QA=11970;QR=12533;RO=407;RPL=242;RPP=16.6021;RPPR=28.4117;RPR=190;RUN=1;SAF=187;SAP=19.9196;SAR=245;SF=0;SRF=173;SRP=22.863;SRR=234;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon35:c.C4983T:p.G1661G,LAMA2:NM_001079823:exon35:c.C4983T:p.G1661G;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs772192888;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=3.372e-05;ExAC_AFR=0;ExAC_AMR=8.825e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.062e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.5520;dpsi_zscore=-2.054;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.857e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.965e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.515e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.684e-05;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-760.974,0,-810.802:864:407:432:11970:12533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129704357 . G T 5995.03 . AB=0.459497;ABP=13.2126;AC=1;AF=0.5;AN=2;AO=329;CIGAR=1X;DP=716;DPB=716;DPRA=0;EPP=3.0169;EPPR=14.674;GTI=0;LEN=1;MEANALT=3;MQM=37.7052;MQMR=38.1008;NS=1;NUMALT=1;ODDS=1380.41;PAIRED=0.948328;PAIREDR=0.984085;PAO=0;PQA=0;PQR=0;PRO=0;QA=9832;QR=11430;RO=377;RPL=147;RPP=11.0956;RPPR=42.6901;RPR=182;RUN=1;SAF=175;SAP=5.921;SAR=154;SF=0;SRF=198;SRP=5.08961;SRR=179;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=LAMA2:NM_000426:exon35:c.G5050T:p.E1684X,LAMA2:NM_001079823:exon35:c.G5050T:p.E1684X;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201632009;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=98871;CLNDN=Merosin_deficient_congenital_muscular_dystrophy;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.410;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=12.150;CADD_phred=38;DANN_score=0.998;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=2.89;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.112;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.964;SiPhy_29way_logOdds=9.152;GDI_full_10282015=.;dpsi_max_tissue=-56.3341;dpsi_zscore=-3.579;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-608.903,0,-747.19:716:377:329:9832:11430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129712706 . G C 3313.76 . AB=0.383142;ABP=64.9264;AC=1;AF=0.5;AN=2;AO=200;CIGAR=1X;DP=522;DPB=522;DPRA=0;EPP=28.0257;EPPR=40.9506;GTI=0;LEN=1;MEANALT=3;MQM=39.685;MQMR=39.6098;NS=1;NUMALT=1;ODDS=763.022;PAIRED=0.975;PAIREDR=0.996721;PAO=0;PQA=0;PQR=0;PRO=0;QA=5763;QR=9001;RO=305;RPL=99;RPP=3.05373;RPPR=4.61221;RPR=101;RUN=1;SAF=87;SAP=10.3499;SAR=113;SF=0;SRF=135;SRP=11.7318;SRR=170;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon36:c.G5142C:p.L1714F,LAMA2:NM_001079823:exon36:c.G5142C:p.L1714F;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.041;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.091;Polyphen2_HVAR_pred=B;LRT_score=0.027;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=2.27;FATHMM_pred=T;PROVEAN_score=-2.33;PROVEAN_pred=N;VEST3_score=0.212;CADD_raw=2.070;CADD_phred=16.66;DANN_score=0.997;fathmm-MKL_coding_score=0.696;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.997;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.79;phyloP7way_vertebrate=-0.694;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.463;phastCons20way_mammalian=0.799;SiPhy_29way_logOdds=1.426;GDI_full_10282015=.;dpsi_max_tissue=0.0110;dpsi_zscore=0.075;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.139e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.961e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-346.589,0,-618.971:522:305:200:5763:9001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129722389 . A G 12720.24 . AB=0;ABP=0;AC=114;AF=1;AN=174;AO=832;CIGAR=1X;DP=78915;DPB=867;DPRA=0;EPP=6.02739;EPPR=12.6832;GTI=0;LEN=1;MEANALT=3;MQM=38.7536;MQMR=40.2727;NS=1;NUMALT=1;ODDS=1053.68;PAIRED=0.967548;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24782;QR=335;RO=11;RPL=345;RPP=55.6372;RPPR=3.20771;RPR=487;RUN=1;SAF=444;SAP=11.1951;SAR=388;SF=0,1;SRF=5;SRP=3.20771;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.A5466G:p.E1822E,LAMA2:NM_001079823:exon38:c.A5466G:p.E1822E;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.5161;esp6500siv2_ea=0.4653;esp6500siv2_all=0.5161;esp6500siv2_ea=0.4653;1000g2015aug_all=0.544529;avsnp147=rs3749877;Kaviar_AF=0.489541;Kaviar_AC=75684;Kaviar_AN=154602;ExAC_ALL=0.4978;ExAC_AFR=0.6222;ExAC_AMR=0.4696;ExAC_EAS=0.5674;ExAC_FIN=0.4626;ExAC_NFE=0.4678;ExAC_OTH=0.5066;ExAC_SAS=0.5381;CLNALLELEID=98873;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0934;dpsi_zscore=-0.429;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4937;gnomAD_exome_AFR=0.6223;gnomAD_exome_AMR=0.4731;gnomAD_exome_ASJ=0.5400;gnomAD_exome_EAS=0.5730;gnomAD_exome_FIN=0.4594;gnomAD_exome_NFE=0.4610;gnomAD_exome_OTH=0.4763;gnomAD_exome_SAS=0.5391;gnomAD_genome_ALL=0.5112;gnomAD_genome_AFR=0.6206;gnomAD_genome_AMR=0.4845;gnomAD_genome_ASJ=0.5705;gnomAD_genome_EAS=0.5824;gnomAD_genome_FIN=0.4613;gnomAD_genome_NFE=0.4523;gnomAD_genome_OTH=0.5051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2069.1,-224.229,0:867:11:832:24782:335 0/1:-798.721,0,-1133.58:1012:547:445:12717:16753 . 0/1:-627.703,0,-656.296:692:335:343:9892:9978 0/1:-874.959,0,-1034.32:979:503:458:13629:15429 1/1:-2430.75,-263.649,0:1037:17:989:29157:461 . 0/1:-875.438,0,-1076.8:1028:521:480:13951:16103 0/1:-851.542,0,-761.661:830:384:436:12771:11785 1/1:-2478.91,-277.765,0:1054:12:1012:29385:353 0/1:-755.121,0,-863.14:854:422:405:11772:12931 1/1:-2260.14,-262.598,0:938:6:911:26792:151 0/1:-775.374,0,-907.927:870:438:415:12226:13503 0/1:-703.073,0,-726.383:768:365:381:10891:11104 . 0/1:-1126.75,0,-1125.44:1150:544:586:17314:16978 . 0/1:-1690.35,0,-1738.82:1747:853:866:25691:26395 1/1:-2253.81,-252.913,0:927:8:896:26724:218 . . . 0/1:-516.946,0,-569.962:585:286:287:8095:8733 . 0/1:-1034.97,0,-1014.42:1068:511:532:15769:15500 0/1:-646.334,0,-793.484:760:388:355:10284:11957 1/1:-2312.25,-264.673,0:955:5:923:27230:167 0/1:-1033.74,0,-1213:1132:584:534:16023:18130 0/1:-654.805,0,-746.85:767:379:361:10359:11402 0/1:-702.907,0,-738.719:719:362:349:10611:11062 0/1:-738.295,0,-980.534:875:469:396:11634:14487 0/1:-1120.35,0,-1159.59:1201:578:584:17358:17529 0/1:-880.228,0,-943.102:948:461:463:13694:14184 0/1:-466.515,0,-581.57:532:275:251:7315:8595 . . 0/1:-441.904,0,-456.957:479:229:236:6950:6957 0/1:-934.269,0,-1218.39:1110:586:501:14671:17855 0/1:-812.657,0,-900.144:912:458:433:12680:13704 0/1:-523.722,0,-487.03:534:250:270:7914:7619 1/1:-2844,-309.353,0:1175:15:1137:33637:449 0/1:-674.831,0,-872.964:772:404:357:10489:12845 0/1:-930.389,0,-949.464:966:476:471:14066:14392 . . 0/1:-868.339,0,-964.521:952:471:464:13431:14746 1/1:-2235.57,-269.462,0:935:3:911:26426:64 0/1:-472.539,0,-539.42:513:258:247:7376:8059 . 1/1:-2562.1,-273.967,0:1048:14:1010:30119:387 . . 0/1:-1233.55,0,-1207.88:1244:602:618:18619:18222 0/1:-902.894,0,-952.232:977:486:471:13834:14406 1/1:-1683.08,-188.654,0:747:12:715:20413:342 0/1:-826.46,0,-637.758:763:338:410:12409:10162 0/1:-900.264,0,-991.821:987:493:467:13859:14973 0/1:-506.135,0,-468.34:532:247:266:7897:7370 1/1:-1655.83,-179.691,0:692:8:668:19687:270 1/1:-1936.16,-213.788,0:790:8:760:22832:213 0/1:-600.435,0,-635.447:669:325:324:9464:9614 0/1:-948.698,0,-1130.38:1098:560:516:15012:17079 1/1:-1835.08,-200.231,0:736:7:718:21667:204 0/1:-577.298,0,-745.629:733:372:339:9452:11251 . . 1/1:-1435.71,-171.581,0:608:2:589:17131:72 . 0/1:-613.321,0,-728.095:681:343:325:9636:10857 . . 0/1:-1054.59,0,-1105.46:1096:541:532:16222:16743 0/1:-877.641,0,-1186.31:1063:561:478:13969:17332 0/1:-461.427,0,-533.408:575:280:278:7550:8283 0/1:-764.477,0,-894.488:842:430:400:11943:13383 1/1:-2581.38,-268.94,0:1115:22:1065:30959:691 . 0/1:-1067.12,0,-1155.98:1143:565:565:16641:17395 0/1:-642.411,0,-793.082:737:388:336:9968:11698 0/1:-623.32,0,-584.874:628:290:329:9611:8932 0/1:-1070.49,0,-848.033:1003:434:550:16136:13213 0/1:-895.882,0,-1134.6:1057:547:493:14284:16831 0/1:-984.565,0,-1035.97:1049:500:523:15156:15573 0/1:-846.527,0,-752.691:842:391:437:12881:11823 1/1:-1750.75,-196.887,0:715:6:696:20555:163 0/1:-772.906,0,-868.941:862:428:408:11969:13148 1/1:-2095.55,-246.081,0:859:2:830:24583:50 1/1:-2417.35,-270.683,0:1009:10:982:28481:329 0/1:-505.164,0,-514.881:538:257:267:7738:7781 . 0/1:-1247.11,0,-1173.94:1236:593:623:18822:18097 . . 1/1:-2018.56,-236.741,0:849:4:817:23806:118 1/1:-2535.32,-287.27,0:1082:12:1043:30090:355 . 0/1:-1018.39,0,-907.415:900:420:471:14857:13494:420,471 . 0/1:-1343.61,0,-1115.01:1151:524:612:19495:16686:524,612 0/1:-551.435,0,-579.108:538:266:265:8198:8539:266,265 0/1:-975.997,0,-1027.78:963:479:474:14567:15147:479,474 . 1/1:-2602.21,-283.516,0:978:3:963:30275:82:3,963 1/1:-2728.97,-268.935,0:1049:15:1017:32116:475:15,1017 . 1/1:-2661.43,-282.723,0:989:7:971:30882:138:7,971 0/1:-1170.3,0,-1063.88:1064:497:549:17271:15797:497,549 1/1:-2287.97,-238.537,0:873:7:845:26691:204:7,845 0/1:-1059.92,0,-909.477:936:434:488:15560:13698:434,488 . 1/1:-2686.16,-282.957,0:1032:8:1009:31810:264:8,1009 0/1:-937.558,0,-1082.59:964:499:456:14188:15880:499,456 0/1:-1176.94,0,-1431.25:1255:652:582:18081:20844:652,582 1/1:-2682.32,-286.057,0:1009:5:989:31105:149:5,989 1/1:-2583.18,-267.935,0:971:7:950:30135:230:7,950 0/1:-995.913,0,-1168.57:995:521:464:14850:16765:521,464 chr6 129722425 . G A 12806.56 . AB=0;ABP=0;AC=114;AF=1;AN=174;AO=780;CIGAR=1X;DP=79022;DPB=813;DPRA=0;EPP=25.5602;EPPR=4.09604;GTI=0;LEN=1;MEANALT=3;MQM=38.8756;MQMR=39.625;NS=1;NUMALT=1;ODDS=1011.7;PAIRED=0.967949;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=22799;QR=226;RO=8;RPL=426;RPP=17.4422;RPPR=7.35324;RPR=354;RUN=1;SAF=417;SAP=11.1283;SAR=363;SF=0,1;SRF=3;SRP=4.09604;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.G5502A:p.E1834E,LAMA2:NM_001079823:exon38:c.G5502A:p.E1834E;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.5150;esp6500siv2_ea=0.4641;esp6500siv2_all=0.5150;esp6500siv2_ea=0.4641;1000g2015aug_all=0.543331;avsnp147=rs3749878;Kaviar_AF=0.487141;Kaviar_AC=75313;Kaviar_AN=154602;ExAC_ALL=0.4963;ExAC_AFR=0.6228;ExAC_AMR=0.4686;ExAC_EAS=0.5662;ExAC_FIN=0.4567;ExAC_NFE=0.4658;ExAC_OTH=0.5066;ExAC_SAS=0.5379;CLNALLELEID=98874;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2198;dpsi_zscore=0.760;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4923;gnomAD_exome_AFR=0.6223;gnomAD_exome_AMR=0.4721;gnomAD_exome_ASJ=0.5401;gnomAD_exome_EAS=0.5721;gnomAD_exome_FIN=0.4557;gnomAD_exome_NFE=0.4592;gnomAD_exome_OTH=0.4748;gnomAD_exome_SAS=0.5389;gnomAD_genome_ALL=0.5089;gnomAD_genome_AFR=0.6208;gnomAD_genome_AMR=0.4784;gnomAD_genome_ASJ=0.5667;gnomAD_genome_EAS=0.5815;gnomAD_genome_FIN=0.4559;gnomAD_genome_NFE=0.4496;gnomAD_genome_OTH=0.5020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1919.94,-217.131,0:813:8:780:22799:226 0/1:-844.893,0,-1114.87:1036:541:456:13371:16282 . 0/1:-610.492,0,-648.921:687:328:328:9591:9889 0/1:-969.648,0,-909.84:995:467:501:14799:13979 1/1:-2494.3,-275.958,0:1034:12:1000:29741:332 . 0/1:-888.413,0,-941.789:992:488:475:13750:14382 0/1:-862.775,0,-721.263:843:382:438:12982:11287 1/1:-2393.9,-259.117,0:1002:13:969:28419:414 0/1:-771.615,0,-762.755:825:394:405:11893:11672 1/1:-2287.47,-265.842,0:941:7:920:27167:149 0/1:-788.326,0,-783.353:831:399:406:12019:11858 0/1:-768.224,0,-605.325:758:337:397:11627:9548 . 0/1:-1176.07,0,-1033.94:1153:519:603:17705:15873 . 0/1:-1725.52,0,-1742.27:1796:880:871:26340:26415 1/1:-2265.11,-265.447,0:922:3:904:26708:86 . . . 0/1:-553.059,0,-503.553:576:263:294:8501:7828 . 0/1:-1095.25,0,-876.215:1055:479:551:16528:13772 0/1:-665.096,0,-746.555:762:383:359:10508:11325 1/1:-2412.11,-273.615,0:969:5:948:28495:150 0/1:-1015.71,0,-1029.07:1070:516:529:15562:15517 0/1:-675.011,0,-707.35:760:366:365:10558:10900 0/1:-677.52,0,-711.942:726:356:345:10342:10727 0/1:-712.122,0,-907.228:858:446:380:11238:13427 0/1:-1153.69,0,-1178.94:1215:592:592:17835:17790 0/1:-888.211,0,-929.729:972:469:471:13835:13989 0/1:-376.463,0,-535.468:500:270:217:6076:7983 . . 0/1:-471.082,0,-533.196:534:266:257:7433:7945 0/1:-997.424,0,-1093.33:1140:557:537:15383:16485 0/1:-798.831,0,-883.078:923:460:430:12425:13492 0/1:-522.508,0,-509.293:546:263:277:7984:7800 1/1:-2852.56,-316.702,0:1172:11:1135:33700:333 0/1:-642.155,0,-807.628:763:395:348:10133:11930 0/1:-953.852,0,-845.515:957:445:479:14312:12995 . . 0/1:-892.668,0,-859.971:932:454:455:13572:13433 1/1:-2219.3,-262.48,0:920:3:894:26451:86 0/1:-476.316,0,-506.026:521:253:256:7395:7605 . 1/1:-2643.25,-281.745,0:1083:15:1048:31100:433 . . 0/1:-1258.76,0,-1139.55:1231:579:626:18874:17556 0/1:-939.777,0,-937.862:970:478:471:14339:14147 1/1:-1645.46,-178.411,0:740:13:704:19998:425 0/1:-801.191,0,-631.538:764:334:397:11927:9912 0/1:-941.824,0,-976.391:1032:505:496:14464:14818 0/1:-499.086,0,-505.974:555:260:268:7818:7755 1/1:-1689.03,-182.988,0:708:10:685:20015:296 1/1:-2004.34,-223.461,0:824:9:796:23611:230 0/1:-606.174,0,-633.338:684:335:331:9528:9758 0/1:-922.519,0,-1093.29:1072:550:496:14642:16352 1/1:-1828.87,-200.377,0:739:6:719:21572:216 0/1:-612.673,0,-684.418:707:348:335:9867:10284 . . 1/1:-1446.34,-172.761,0:618:6:598:17285:102 . 0/1:-591.28,0,-728.553:699:363:313:9474:10773 . . 0/1:-1044.73,0,-1132.16:1149:579:540:16310:17042 0/1:-864.846,0,-1177.59:1074:570:472:13834:17129 0/1:-504.961,0,-497.572:605:279:307:8205:7944 0/1:-749.035,0,-862.172:854:430:397:11765:12796 1/1:-2636.91,-285.23,0:1122:18:1083:31502:540 . 0/1:-1050.4,0,-1033.57:1114:532:550:16150:15614 0/1:-622.712,0,-806.543:754:399:330:9849:11837 0/1:-641.772,0,-486.161:597:258:327:9778:7695 0/1:-1041.34,0,-801.029:981:416:528:15669:12556 0/1:-978.023,0,-1082.77:1087:542:511:15238:16276 0/1:-1033.1,0,-978.552:1067:494:539:15836:14864 0/1:-836.761,0,-710.492:841:378:438:12825:11268 1/1:-1762.78,-195.812,0:715:6:699:20662:194 0/1:-717.191,0,-868.868:857:448:384:11314:13028 1/1:-2078.96,-242.656,0:845:2:824:24471:68 1/1:-2587.01,-278.674,0:1070:13:1030:30521:400 0/1:-488.521,0,-480.741:538:253:269:7562:7428 . 0/1:-1187.22,0,-1063.47:1178:549:590:17863:16411 . . 1/1:-2034.06,-236.532,0:844:6:815:24109:119 1/1:-2542.87,-279.016,0:1074:16:1036:30208:438 . 0/1:-995.772,0,-854.575:894:415:463:14505:12827:415,463 . 0/1:-1366.2,0,-1069.25:1178:530:627:19794:16304:530,627 0/1:-568.143,0,-580.596:555:278:271:8539:8567:278,271 0/1:-949.058,0,-1016.52:956:486:453:14214:14908:486,453 . 1/1:-2600.41,-287.968,0:982:3:966:30104:42:3,966 1/1:-2763.54,-278.417,0:1065:16:1031:32466:416:16,1031 . 1/1:-2605.62,-272.894,0:978:6:958:30335:195:6,958 0/1:-1161.57,0,-1062.03:1068:502:549:17156:15884:502,549 1/1:-2260.26,-238.504,0:867:7:845:26386:204:7,845 0/1:-982.303,0,-875.26:912:421:473:14517:13204:421,473 . 1/1:-2605.98,-274.165,0:1026:10:995:30936:323:10,995 0/1:-965.708,0,-1089.21:992:512:467:14612:15960:512,467 0/1:-1242.83,0,-1391.13:1281:649:603:18865:20292:649,603 1/1:-2641.94,-281.877,0:1003:6:984:30731:182:6,984 1/1:-2549.12,-278.303,0:977:4:959:29570:144:4,959 0/1:-994.104,0,-1100.39:997:519:461:14896:16023:519,461 chr6 129722453 . C A 8384.98 . AB=0.484884;ABP=4.71718;AC=1;AF=0.5;AN=2;AO=417;CIGAR=1X;DP=860;DPB=860;DPRA=0;EPP=52.0064;EPPR=16.7793;GTI=0;LEN=1;MEANALT=1;MQM=39.5755;MQMR=40.3138;NS=1;NUMALT=1;ODDS=1930.71;PAIRED=0.966427;PAIREDR=0.988713;PAO=0;PQA=0;PQR=0;PRO=0;QA=13061;QR=13493;RO=443;RPL=255;RPP=48.0488;RPPR=65.6007;RPR=162;RUN=1;SAF=220;SAP=5.765;SAR=197;SF=0;SRF=228;SRP=3.83869;SRR=215;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.C5530A:p.R1844S,LAMA2:NM_001079823:exon38:c.C5530A:p.R1844S;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0171;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0171;1000g2015aug_all=0.00499201;avsnp147=rs56173620;Kaviar_AF=0.0113582;Kaviar_AC=1756;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0029;ExAC_AMR=0.0045;ExAC_EAS=0;ExAC_FIN=0.0053;ExAC_NFE=0.0171;ExAC_OTH=0.0044;ExAC_SAS=0.0024;CLNALLELEID=98875;CLNDN=Polymicrogyria|Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.729;SIFT_pred=T;Polyphen2_HDIV_score=0.085;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.059;Polyphen2_HVAR_pred=B;LRT_score=0.157;LRT_pred=N;MutationTaster_score=0.974;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=1.97;FATHMM_pred=T;PROVEAN_score=0.71;PROVEAN_pred=N;VEST3_score=0.194;CADD_raw=2.879;CADD_phred=21.8;DANN_score=0.975;fathmm-MKL_coding_score=0.146;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.960;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.4;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.878;phastCons20way_mammalian=0.930;SiPhy_29way_logOdds=8.784;GDI_full_10282015=.;dpsi_max_tissue=-0.0753;dpsi_zscore=-0.368;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=HGMD::Muscular_dystrophy,_congenital_1A#20207543;hgmdPRO=id:CS102083#"Muscular_dystrophy_congenital_1A";gnomAD_exome_ALL=0.0104;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0050;gnomAD_exome_NFE=0.0184;gnomAD_exome_OTH=0.0093;gnomAD_exome_SAS=0.0032;gnomAD_genome_ALL=0.0104;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0162;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-856.198,0,-902.463:860:443:417:13061:13493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129725008 . A G 10915.10 . AB=0.425729;ABP=70.4247;AC=1;AF=0.5;AN=2;AO=599;CIGAR=1X;DP=1407;DPB=1407;DPRA=0;EPP=3.30394;EPPR=3.01307;GTI=0;LEN=1;MEANALT=3;MQM=39.3589;MQMR=37.908;NS=1;NUMALT=1;ODDS=2513.3;PAIRED=0.958264;PAIREDR=0.947637;PAO=0;PQA=0;PQR=0;PRO=0;QA=17915;QR=24565;RO=783;RPL=345;RPP=33.0303;RPPR=26.9963;RPR=254;RUN=1;SAF=274;SAP=12.4393;SAR=325;SF=0;SRF=385;SRP=3.47898;SRR=398;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon40:c.A5769G:p.A1923A,LAMA2:NM_001079823:exon40:c.A5769G:p.A1923A;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs200582139;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=9.068e-05;ExAC_AFR=0;ExAC_AMR=8.649e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=252100;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2723;dpsi_zscore=0.849;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.945e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1108.95,0,-1620.99:1407:783:599:17915:24565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129725073 . C G 8479.12 . AB=0.456522;ABP=18.8715;AC=1;AF=0.5;AN=2;AO=441;CIGAR=1X;DP=966;DPB=966;DPRA=0;EPP=19.0083;EPPR=42.4046;GTI=0;LEN=1;MEANALT=3;MQM=40.4921;MQMR=39.0728;NS=1;NUMALT=1;ODDS=1952.39;PAIRED=0.988662;PAIREDR=0.966535;PAO=0;PQA=0;PQR=0;PRO=0;QA=13181;QR=15801;RO=508;RPL=226;RPP=3.6061;RPPR=3.62584;RPR=215;RUN=1;SAF=253;SAP=23.8141;SAR=188;SF=0;SRF=326;SRP=91.6474;SRR=182;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon40:c.C5834G:p.A1945G,LAMA2:NM_001079823:exon40:c.C5834G:p.A1945G;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.24;MutationAssessor_pred=M;FATHMM_score=1.93;FATHMM_pred=T;PROVEAN_score=-3.4;PROVEAN_pred=D;VEST3_score=0.629;CADD_raw=7.032;CADD_phred=33;DANN_score=0.998;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.901;MetaSVM_pred=T;MetaLR_score=0.148;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=20.068;GDI_full_10282015=.;dpsi_max_tissue=-0.0994;dpsi_zscore=-0.447;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-860.53,0,-1052.55:966:508:441:13181:15801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129762112 . G A 4883.68 . AB=0.486755;ABP=3.93066;AC=33;AF=0.5;AN=62;AO=294;CIGAR=1X;DP=16323;DPB=604;DPRA=0;EPP=112.943;EPPR=124.851;GTI=0;LEN=1;MEANALT=3;MQM=39.5272;MQMR=39.3116;NS=1;NUMALT=1;ODDS=1180.97;PAIRED=0.982993;PAIREDR=0.955479;PAO=0;PQA=0;PQR=0;PRO=0;QA=8382;QR=8436;RO=292;RPL=193;RPP=65.5251;RPPR=71.5455;RPR=101;RUN=1;SAF=115;SAP=33.2632;SAR=179;SF=0,1;SRF=122;SRP=20.1441;SRR=170;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.G6237A:p.T2079T,LAMA2:NM_001079823:exon43:c.G6237A:p.T2079T;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.1390;esp6500siv2_ea=0.1457;esp6500siv2_all=0.1390;esp6500siv2_ea=0.1457;1000g2015aug_all=0.182508;avsnp147=rs2297738;Kaviar_AF=0.1658;Kaviar_AC=25633;Kaviar_AN=154602;ExAC_ALL=0.1683;ExAC_AFR=0.1391;ExAC_AMR=0.2274;ExAC_EAS=0.2160;ExAC_FIN=0.2155;ExAC_NFE=0.1514;ExAC_OTH=0.1689;ExAC_SAS=0.1700;CLNALLELEID=98882;CLNDN=not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1730;gnomAD_exome_AFR=0.1367;gnomAD_exome_AMR=0.2205;gnomAD_exome_ASJ=0.1117;gnomAD_exome_EAS=0.2162;gnomAD_exome_FIN=0.2142;gnomAD_exome_NFE=0.1544;gnomAD_exome_OTH=0.1782;gnomAD_exome_SAS=0.1715;gnomAD_genome_ALL=0.1654;gnomAD_genome_AFR=0.1297;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.2135;gnomAD_genome_FIN=0.2033;gnomAD_genome_NFE=0.1698;gnomAD_genome_OTH=0.1864;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-545.203,0,-541.599:604:292:294:8382:8436 . . . . 0/1:-393.573,0,-445.956:494:246:239:6330:6811 . . . . . 0/1:-376.551,0,-389.698:438:218:213:6002:6160 0/1:-415.471,0,-423.637:468:235:222:6438:6538 . . . . . 0/1:-379.499,0,-348.036:404:184:201:5684:5349 . . 1/1:-1589.07,-180.67,0:690:12:668:18720:299 . . . . . . 0/1:-436.09,0,-422.013:497:241:242:6780:6655 . 0/1:-359.706,0,-523.401:521:276:228:6127:7894 . . 1/1:-1303.3,-150.225,0:586:9:562:15414:245 . 0/1:-494.404,0,-617.168:624:318:291:8132:9355 . . . . 0/1:-548.254,0,-527.012:578:274:295:8492:8235 . . . . . 0/1:-428.649,0,-274.17:394:165:223:6383:4552 . 0/1:-655.022,0,-553.243:668:308:347:9865:8797 0/1:-449.152,0,-502.808:561:276:266:7230:7933 . . . . 0/1:-600.219,0,-531.798:619:291:318:9164:8441 0/1:-257.806,0,-304.699:330:169:152:4146:4690 . . 0/1:-267.159,0,-329.436:363:184:170:4449:5233 0/1:-585.936,0,-668.126:694:344:335:9275:10194 . . . 0/1:-485.342,0,-605.242:605:306:285:7688:8950 . 0/1:-517.221,0,-501.629:548:265:272:7867:7705 . 0/1:-372.02,0,-531.113:520:276:225:6151:8013 . . . 0/1:-290.696,0,-266.926:373:159:193:4624:4424 0/1:-426.554,0,-477.149:507:247:241:6690:7275 . . 0/1:-590.357,0,-572.478:649:307:329:9226:8957 . . 0/1:-456.981,0,-686.234:607:341:255:7508:10018 . . . . . . . 0/1:-276.128,0,-322.323:330:167:155:4419:4940 . 0/1:-590.26,0,-662.503:695:350:331:9399:10302 . . . . . . 0/1:-465.481,0,-576.927:496:271:222:7092:8438:271,222 . . 0/1:-510.258,0,-413.441:444:202:237:7493:6312:202,237 . . . . . 0/1:-559.479,0,-623.668:558:285:265:8383:9052:285,265 . . . . . . . . 0/1:-441.149,0,-497.824:458:235:213:6668:7431:235,213 chr6 129766983 . G A 4276.13 . AB=0.485106;ABP=3.91585;AC=1;AF=0.5;AN=2;AO=228;CIGAR=1X;DP=470;DPB=470;DPRA=0;EPP=24.9536;EPPR=15.6603;GTI=0;LEN=1;MEANALT=3;MQM=39.8991;MQMR=40.3447;NS=1;NUMALT=1;ODDS=984.616;PAIRED=0.986842;PAIREDR=0.974468;PAO=0;PQA=0;PQR=0;PRO=0;QA=7234;QR=7513;RO=235;RPL=156;RPP=70.2117;RPPR=66.6668;RPR=72;RUN=1;SAF=22;SAP=325.455;SAR=206;SF=1;SRF=27;SRP=305.732;SRR=208;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762849577;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.884e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=3.065e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.942e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=5.418e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-480.938,0,-508.497:470:235:228:7234:7513:235,228 . . . . . . . . . . chr6 129785499 . C T 10546.20 . AB=0.444065;ABP=34.8332;AC=1;AF=0.5;AN=2;AO=520;CIGAR=1X;DP=1171;DPB=1171;DPRA=0;EPP=61.1556;EPPR=101.066;GTI=0;LEN=1;MEANALT=3;MQM=40.7154;MQMR=40.5562;NS=1;NUMALT=1;ODDS=2428.35;PAIRED=0.965385;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=16345;QR=19943;RO=640;RPL=217;RPP=33.8953;RPPR=23.6529;RPR=303;RUN=1;SAF=272;SAP=5.41562;SAR=248;SF=1;SRF=334;SRP=5.67035;SRR=306;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon50:c.C7057T:p.R2353C,LAMA2:NM_001079823:exon50:c.C7057T:p.R2353C;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs145885540;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=8.254e-05;ExAC_AFR=0;ExAC_AMR=8.738e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.057e-05;CLNALLELEID=301389;CLNDN=Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.97;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.337;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-1.27;FATHMM_pred=T;PROVEAN_score=-5.0;PROVEAN_pred=D;VEST3_score=0.963;CADD_raw=8.067;CADD_phred=35;DANN_score=0.999;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.650;MetaSVM_pred=T;MetaLR_score=0.247;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=20.192;GDI_full_10282015=.;dpsi_max_tissue=-0.0180;dpsi_zscore=-0.091;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.775e-05;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1074.51,0,-1378.24:1171:640:520:16345:19943:640,520 . . . chr6 129785554 . T G 7300.12 . AB=0.498079;ABP=3.03532;AC=1;AF=0.5;AN=2;AO=389;CIGAR=1X;DP=781;DPB=781;DPRA=0;EPP=37.8488;EPPR=74.6917;GTI=0;LEN=1;MEANALT=3;MQM=38.1928;MQMR=38.7895;NS=1;NUMALT=1;ODDS=1680.91;PAIRED=0.938303;PAIREDR=0.942105;PAO=0;PQA=0;PQR=0;PRO=0;QA=11854;QR=11855;RO=380;RPL=267;RPP=120.376;RPPR=138.533;RPR=122;RUN=1;SAF=169;SAP=17.5296;SAR=220;SF=0;SRF=183;SRP=4.13032;SRR=197;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon50:c.T7112G:p.F2371C,LAMA2:NM_001079823:exon50:c.T7112G:p.F2371C;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201274841;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=425667;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.965;MutationAssessor_pred=M;FATHMM_score=-0.98;FATHMM_pred=T;PROVEAN_score=-6.68;PROVEAN_pred=D;VEST3_score=0.963;CADD_raw=6.789;CADD_phred=32;DANN_score=0.993;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.108;MetaSVM_pred=T;MetaLR_score=0.473;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.255;GDI_full_10282015=.;dpsi_max_tissue=0.2090;dpsi_zscore=0.740;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.33e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.982e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.469e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-754.7,0,-762.468:781:380:389:11854:11855 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129796620 . C T 9264.59 . AB=0;ABP=0;AC=109;AF=1;AN=164;AO=627;CIGAR=1X;DP=52027;DPB=649;DPRA=0;EPP=377.878;EPPR=3.20771;GTI=0;LEN=1;MEANALT=3;MQM=38.9139;MQMR=39.7273;NS=1;NUMALT=1;ODDS=777.044;PAIRED=0.969697;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=19440;QR=313;RO=11;RPL=442;RPP=231.756;RPPR=3.20771;RPR=185;RUN=1;SAF=136;SAP=439.469;SAR=491;SF=0,1;SRF=2;SRP=12.6832;SRR=9;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.4233;esp6500siv2_ea=0.4104;esp6500siv2_all=0.4233;esp6500siv2_ea=0.4104;1000g2015aug_all=0.408347;avsnp147=rs7741996;Kaviar_AF=0.0780326;Kaviar_AC=12064;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2769;dpsi_zscore=1.674;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4028;gnomAD_genome_AFR=0.4563;gnomAD_genome_AMR=0.4133;gnomAD_genome_ASJ=0.5833;gnomAD_genome_EAS=0.3157;gnomAD_genome_FIN=0.3621;gnomAD_genome_NFE=0.3859;gnomAD_genome_OTH=0.4088;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1627.52,-164.458,0:649:11:627:19440:313 . . 1/1:-1175.22,-122.935,0:448:3:437:13789:108 0/1:-715.432,0,-696.469:701:336:351:10858:10704 1/1:-2158.17,-228.3,0:838:7:824:25784:248 . 0/1:-650.61,0,-861.309:738:394:336:10224:12803 . 1/1:-2064.24,-216.856,0:800:8:780:24566:244 1/1:-1593.67,-178.037,0:640:5:628:18960:154 1/1:-1652.7,-174.54,0:668:10:651:19931:304 0/1:-711.578,0,-686.961:669:323:333:10625:10500 0/1:-507.921,0,-549.791:555:280:260:7955:8638 . 0/1:-906.274,0,-931.519:897:439:451:13859:14019 . 0/1:-1328.62,0,-1059.96:1156:510:630:19759:16450 0/1:-691.202,0,-775.896:715:369:337:10591:11630 . . . 0/1:-477.508,0,-484.313:481:233:238:7303:7441 . 0/1:-917.046,0,-795.978:835:389:435:13599:12410 0/1:-506.935,0,-560.132:544:274:257:7945:8525 1/1:-1671.82,-161.867,0:658:12:638:20056:384 0/1:-776.826,0,-797.175:747:369:365:11626:11812 0/1:-545.418,0,-473.456:517:244:267:8221:7588 . 1/1:-1645.57,-174.799,0:649:7:631:19691:202 0/1:-879.945,0,-928.741:871:436:420:13309:14008 0/1:-778.249,0,-685.829:711:321:378:11683:10385 0/1:-161.287,0,-171.945:165:81:78:2467:2580 . 0/1:-798.297,0,-888.214:833:424:399:12290:13439 0/1:-179.594,0,-209.926:188:97:91:2842:3105 0/1:-876.993,0,-914.923:886:434:441:13425:13896 1/1:-1502.32,-170.21,0:582:1:575:17853:36 0/1:-205.474,0,-225.612:213:108:102:3147:3364 1/1:-2265.09,-237.291,0:868:8:846:26911:239 0/1:-560.39,0,-592.107:564:282:272:8546:8953 0/1:-676.812,0,-674.004:657:316:331:10268:10207 . . . 1/1:-1617.79,-168.469,0:627:9:608:19049:201 . . 1/1:-2080.2,-207.016,0:829:15:801:25092:462 . . 0/1:-845.61,0,-928.164:848:437:402:12871:13945 0/1:-633.926,0,-806.499:707:378:317:9946:12095 1/1:-1109.77,-109.781,0:465:11:448:13476:330 . 0/1:-696.14,0,-808.729:725:375:343:10686:11954 0/1:-449.47,0,-434.141:431:205:216:6806:6642 0/1:-499.097,0,-571.095:526:264:251:7704:8579 1/1:-1444.86,-142.506,0:560:8:545:17335:280 . 0/1:-829.686,0,-916.879:854:432:408:12798:13849 1/1:-1465.96,-163.434,0:557:1:550:17394:27 . 0/1:-864.395,0,-1005.78:895:463:416:13259:14862 . 0/1:-458.02,0,-492.249:492:240:243:7412:7546 . 0/1:-536.619,0,-486.322:506:233:261:8035:7427 0/1:-828.1,0,-737.46:765:358:392:12344:11362 . 0/1:-810.173,0,-734.683:738:345:386:12162:11096 0/1:-744.852,0,-728.39:725:350:363:11290:11046 0/1:-462.932,0,-478.302:513:252:251:7513:7760 0/1:-633.628,0,-722.721:671:343:315:9780:10739 1/1:-2070.55,-229.794,0:816:5:796:24609:128 . 1/1:-1902.64,-204.25,0:745:5:725:22476:176 0/1:-593.489,0,-463.411:512:222:284:8792:7281 . 0/1:-734.336,0,-723.87:724:346:368:11188:11043 0/1:-688.993,0,-728.213:704:345:348:10668:11105 0/1:-819.507,0,-868.504:835:421:402:12654:13209 0/1:-645.066,0,-626.594:638:301:323:9995:9537 1/1:-1391.38,-157.864,0:565:3:553:16818:108 0/1:-552.703,0,-642.194:588:298:282:8654:9568 1/1:-1544.65,-174.578,0:612:2:599:18219:72 1/1:-1983.6,-195.889,0:764:12:742:23739:361 0/1:-489.38,0,-367.67:423:182:235:7352:5811 . 0/1:-812.869,0,-951.125:863:449:404:12617:14255 . . 1/1:-1814.68,-188.41,0:683:5:667:21458:158 1/1:-1888.47,-198.855,0:745:8:724:22587:244 . 0/1:-695.583,0,-478.996:543:230:307:9986:7415:230,307 . 0/1:-620.156,0,-703.032:637:329:299:9476:10309:329,299 0/1:-375.849,0,-322.913:333:155:171:5468:4928:155,171 0/1:-552.053,0,-469.509:496:233:258:8277:7165:233,258 . 1/1:-1397.58,-147.967,0:535:4:523:16420:122:4,523 1/1:-1419.22,-146.621,0:544:7:530:16680:178:7,530 . 0/1:-533.317,0,-530.381:506:250:249:7924:7878:250,249 0/1:-616.444,0,-611.888:599:291:295:9269:9239:291,295 1/1:-1154.1,-124.124,0:430:1:418:13372:27:1,418 0/1:-584.049,0,-467.394:498:226:262:8543:7229:226,262 0/1:-532.501,0,-653.242:557:292:259:8153:9496:292,259 1/1:-1419.24,-145.637,0:532:5:523:16698:150:5,523 0/1:-596.219,0,-592.794:568:278:283:8940:8886:278,283 0/1:-602.083,0,-692.017:614:318:291:9208:10156:318,291 1/1:-1389.89,-145.556,0:522:5:512:16294:114:5,512 0/1:-582.927,0,-569.041:540:263:270:8661:8496:263,270 0/1:-492.444,0,-531.356:479:244:230:7345:7775:244,230 chr6 129807629 . C T 15869.23 . AB=0;ABP=0;AC=170;AF=1;AN=210;AO=824;CIGAR=1X;DP=92016;DPB=852;DPRA=0;EPP=104.247;EPPR=3.25157;GTI=0;LEN=1;MEANALT=3;MQM=37.5158;MQMR=37.5556;NS=1;NUMALT=1;ODDS=1070.84;PAIRED=0.956311;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=25016;QR=226;RO=9;RPL=239;RPP=318.496;RPPR=9.04217;RPR=585;RUN=1;SAF=521;SAP=128.249;SAR=303;SF=0,1;SRF=4;SRP=3.25157;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.C7748T:p.A2583V,LAMA2:NM_000426:exon56:c.C7760T:p.A2587V;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.6386;esp6500siv2_ea=0.7265;esp6500siv2_all=0.6386;esp6500siv2_ea=0.7265;1000g2015aug_all=0.583866;avsnp147=rs2229848;Kaviar_AF=0.664092;Kaviar_AC=102670;Kaviar_AN=154602;ExAC_ALL=0.6678;ExAC_AFR=0.4567;ExAC_AMR=0.6736;ExAC_EAS=0.6090;ExAC_FIN=0.6464;ExAC_NFE=0.7148;ExAC_OTH=0.6803;ExAC_SAS=0.6458;CLNALLELEID=177814;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.32;MutationAssessor_pred=M;FATHMM_score=-1.2;FATHMM_pred=T;PROVEAN_score=-2.95;PROVEAN_pred=D;VEST3_score=0.862;CADD_raw=7.378;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=0.056;MetaSVM_pred=D;MetaLR_score=0.584;MetaLR_pred=D;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.807;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.894;SiPhy_29way_logOdds=19.974;GDI_full_10282015=.;dpsi_max_tissue=-0.1505;dpsi_zscore=-0.582;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM023406#"Tuberculoid_leprosy_association_with";gnomAD_exome_ALL=0.6724;gnomAD_exome_AFR=0.4469;gnomAD_exome_AMR=0.6784;gnomAD_exome_ASJ=0.7520;gnomAD_exome_EAS=0.6059;gnomAD_exome_FIN=0.6458;gnomAD_exome_NFE=0.7167;gnomAD_exome_OTH=0.6793;gnomAD_exome_SAS=0.6479;gnomAD_genome_ALL=0.6270;gnomAD_genome_AFR=0.4529;gnomAD_genome_AMR=0.6878;gnomAD_genome_ASJ=0.7384;gnomAD_genome_EAS=0.6160;gnomAD_genome_FIN=0.6464;gnomAD_genome_NFE=0.7152;gnomAD_genome_OTH=0.6851;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2050.78,-231.339,0:852:9:824:25016:226 1/1:-2449.42,-268.129,0:997:13:967:29760:317 0/1:-801.929,0,-963.259:923:474:427:12963:14608 1/1:-1283.7,-148.327,0:513:3:500:15326:42 0/1:-761.19,0,-976.938:904:477:416:12515:14932 1/1:-2818.96,-322.565,0:1127:4:1100:33864:110 1/1:-1832.16,-201.733,0:731:5:707:21920:167 1/1:-2439.35,-269.09,0:987:12:956:29545:270 0/1:-774.536,0,-806.111:819:394:406:12401:12244 1/1:-2487.66,-288.532,0:1013:4:989:30113:118 1/1:-1947.52,-229.954,0:801:4:786:23824:96 1/1:-1994.3,-227.241,0:830:8:799:23942:178 1/1:-2077.08,-243.58,0:834:2:818:24960:41 1/1:-1740.02,-203.129,0:731:6:705:21534:128 0/1:-651.488,0,-718.297:714:341:352:10579:10859 1/1:-3097.97,-359.068,0:1247:5:1218:37147:110 . 0/1:-1636.32,0,-2100.34:1874:991:848:26303:31261 0/1:-737.707,0,-792.621:775:388:381:11610:12170 1/1:-1369.8,-164.543,0:597:5:576:16966:128 0/1:-656.452,0,-737.127:723:362:342:10324:11144 1/1:-2759.51,-317.031,0:1121:5:1088:33485:136 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0/1:-898.864,0,-977.404:961:475:470:14260:14794 1/1:-2096.62,-245.606,0:851:3:837:25527:82 1/1:-1121.98,-130.333,0:447:1:436:13661:14 . 0/1:-1096.48,0,-1000.27:1041:479:544:16683:15306 0/1:-982.119,0,-989.213:1009:491:495:15172:15114 . . 1/1:-2477.89,-286.829,0:993:3:974:29784:82 1/1:-1406.97,-157.392,0:600:7:583:17429:230 1/1:-1760.95,-199.221,0:704:3:684:21030:86 1/1:-2118.83,-236.612,0:849:7:825:25665:174 0/1:-522.867,0,-541.456:575:276:284:8459:8416 0/1:-586.275,0,-724.754:691:356:322:9757:10991 1/1:-2233.22,-258.767,0:917:7:894:27335:177 . 0/1:-1144,0,-1077.7:1133:531:585:17899:16607 1/1:-1919.89,-211.656,0:782:7:760:23416:218 0/1:-657.421,0,-615.967:674:320:335:10268:9848 1/1:-2879.22,-328.923,0:1184:9:1156:35162:246 . 1/1:-1320.45,-159.334,0:562:5:543:16278:70 . 0/1:-796.202,0,-719.976:778:357:406:12526:11124 1/1:-2297.78,-260.895,0:962:11:925:28248:264 0/1:-746.397,0,-938.005:867:456:400:12113:14219 1/1:-2805.09,-298.662,0:1106:12:1084:33840:354 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0/1:-960.225,0,-1009.09:953:469:462:14586:14823:469,462 chr6 129807699 . G C 23558.64 . AB=0;ABP=0;AC=170;AF=1;AN=210;AO=1176;CIGAR=1X;DP=133007;DPB=1215;DPRA=0;EPP=4.67214;EPPR=8.59409;GTI=0;LEN=1;MEANALT=3;MQM=37.9371;MQMR=38.8571;NS=1;NUMALT=1;ODDS=1520.42;PAIRED=0.954082;PAIREDR=0.928571;PAO=0;PQA=0;PQR=0;PRO=0;QA=35328;QR=328;RO=14;RPL=435;RPP=175.908;RPPR=8.59409;RPR=741;RUN=1;SAF=700;SAP=95.6598;SAR=476;SF=0,1;SRF=4;SRP=8.59409;SRR=10;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7818C:p.V2606V,LAMA2:NM_000426:exon56:c.G7830C:p.V2610V;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.6400;esp6500siv2_ea=0.7266;esp6500siv2_all=0.6400;esp6500siv2_ea=0.7266;1000g2015aug_all=0.584265;avsnp147=rs2229849;Kaviar_AF=0.665295;Kaviar_AC=102856;Kaviar_AN=154602;ExAC_ALL=0.6682;ExAC_AFR=0.4587;ExAC_AMR=0.6739;ExAC_EAS=0.6102;ExAC_FIN=0.6461;ExAC_NFE=0.7149;ExAC_OTH=0.6788;ExAC_SAS=0.6458;CLNALLELEID=98894;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0829;dpsi_zscore=-0.394;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6727;gnomAD_exome_AFR=0.4496;gnomAD_exome_AMR=0.6785;gnomAD_exome_ASJ=0.7522;gnomAD_exome_EAS=0.6059;gnomAD_exome_FIN=0.6458;gnomAD_exome_NFE=0.7169;gnomAD_exome_OTH=0.6790;gnomAD_exome_SAS=0.6478;gnomAD_genome_ALL=0.6279;gnomAD_genome_AFR=0.4568;gnomAD_genome_AMR=0.6894;gnomAD_genome_ASJ=0.7384;gnomAD_genome_EAS=0.6113;gnomAD_genome_FIN=0.6461;gnomAD_genome_NFE=0.7153;gnomAD_genome_OTH=0.6857;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 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G A 15297.29 . AB=0.512048;ABP=4.68469;AC=57;AF=0.5;AN=96;AO=680;CIGAR=1X;DP=63270;DPB=1328;DPRA=0;EPP=28.8764;EPPR=50.7234;GTI=0;LEN=1;MEANALT=3;MQM=39.2397;MQMR=38.2568;NS=1;NUMALT=1;ODDS=2603.95;PAIRED=0.941176;PAIREDR=0.974318;PAO=0;PQA=0;PQR=0;PRO=0;QA=19933;QR=18367;RO=623;RPL=355;RPP=5.88431;RPPR=16.8443;RPR=325;RUN=1;SAF=352;SAP=4.84966;SAR=328;SF=0,1;SRF=336;SRP=11.379;SRR=287;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7833A:p.P2611P,LAMA2:NM_000426:exon56:c.G7845A:p.P2615P;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.3422;esp6500siv2_ea=0.2488;esp6500siv2_all=0.3422;esp6500siv2_ea=0.2488;1000g2015aug_all=0.403754;avsnp147=rs2229850;Kaviar_AF=0.302066;Kaviar_AC=46700;Kaviar_AN=154602;ExAC_ALL=0.3080;ExAC_AFR=0.5382;ExAC_AMR=0.3079;ExAC_EAS=0.3912;ExAC_FIN=0.3145;ExAC_NFE=0.2597;ExAC_OTH=0.2874;ExAC_SAS=0.3134;CLNALLELEID=98895;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2004;dpsi_zscore=-0.688;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3031;gnomAD_exome_AFR=0.5475;gnomAD_exome_AMR=0.3052;gnomAD_exome_ASJ=0.2063;gnomAD_exome_EAS=0.3935;gnomAD_exome_FIN=0.3142;gnomAD_exome_NFE=0.2591;gnomAD_exome_OTH=0.2990;gnomAD_exome_SAS=0.3117;gnomAD_genome_ALL=0.3535;gnomAD_genome_AFR=0.5389;gnomAD_genome_AMR=0.3007;gnomAD_genome_ASJ=0.2285;gnomAD_genome_EAS=0.3878;gnomAD_genome_FIN=0.3129;gnomAD_genome_NFE=0.2609;gnomAD_genome_OTH=0.2953;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1308.81,0,-1146.57:1328:623:680:19933:18367 . 0/1:-1254.47,0,-1211.46:1352:646:675:19467:19264 . . . 0/1:-1070.32,0,-1020.04:1170:576:575:16648:16433 . . . . . 0/1:-990.45,0,-995.499:1089:551:520:15380:15957 . 1/1:-2286.88,-246.613,0:1001:22:960:27691:627 0/1:-2618.42,0,-2389.16:2714:1285:1390:40575:38066 0/1:-1131.23,0,-1077.83:1185:572:594:17378:16796 . 0/1:-1001.06,0,-931.575:1042:495:532:15246:14776 . . 0/1:-1325.27,0,-1516.19:1555:786:746:20901:23288 . . . . . 0/1:-817.886,0,-790.869:889:423:451:12498:12556 . . 0/1:-1380.6,0,-1329.46:1484:722:742:21477:20927 . 0/1:-1284.09,0,-1267.82:1382:671:682:19882:19858 0/1:-1295.84,0,-1300.7:1411:701:685:20375:20699 . 0/1:-1392.95,0,-1247.1:1356:642:695:20982:19273 . . . . 0/1:-1053,0,-1258.57:1252:654:571:16610:19162 1/1:-2819,-312.933,0:1213:20:1172:33739:528 0/1:-1591.06,0,-1610.7:1736:865:847:24854:25370 0/1:-1211.53,0,-1258.78:1341:674:648:18858:19730 . . 1/1:-2585.62,-279.002,0:1078:17:1052:30680:516 0/1:-1436.66,0,-1641.86:1641:860:762:22454:25125 0/1:-1164.22,0,-1466.28:1432:756:652:18642:22216 1/1:-3017.17,-354.263,0:1320:18:1280:36150:483 1/1:-3982.23,-455.415,0:1662:14:1619:47507:426 . . . . 0/1:-748.554,0,-775.013:844:422:405:11726:12217 0/1:-893.218,0,-932.069:1018:514:480:14165:15014 . 1/1:-2023.1,-244.867,0:894:8:869:24732:236 0/1:-1459.81,0,-1609.49:1684:860:787:22969:25172 . 0/1:-726.977,0,-925.638:943:500:421:11964:14418 . 1/1:-3420.61,-392.178,0:1434:15:1398:40408:383 . 0/1:-1196.86,0,-1386.26:1400:721:659:19062:21330 0/1:-968.154,0,-1042.57:1096:559:521:15057:16234 . 0/1:-1181.35,0,-1213.63:1296:637:633:18260:19002 . 0/1:-1273.97,0,-1375.98:1441:736:683:19983:21827 . 0/1:-1132.03,0,-1114.84:1203:597:594:17487:17596 . . . 0/1:-860.45,0,-896.312:935:470:455:13291:13901 1/1:-2147.36,-248.413,0:928:13:904:26180:381 . . . 0/1:-1063.92,0,-1064.44:1189:586:580:16638:17073 . 0/1:-1042.4,0,-1004.41:1107:533:553:16213:15762 . . 0/1:-580.995,0,-833.989:775:425:334:9533:12773 0/1:-1237.6,0,-1171.85:1330:642:667:19272:18826 . 0/1:-1195.09,0,-1132.72:1256:603:638:18818:17983 1/1:-3894.37,-433.742,0:1616:18:1572:46191:557 . . . . 0/1:-1592.18,0,-1709.44:1587:805:764:23730:25227:805,764 0/1:-1662.74,0,-1984.1:1745:935:797:25004:28992:935,797 . 0/1:-1332.05,0,-1321.3:1277:628:632:19969:19576:628,632 . . . . . 0/1:-1599.38,0,-1777.21:1643:857:767:24197:26349:857,767 . . . . . 0/1:-1616.45,0,-1729.02:1649:836:786:24350:25813:836,786 . . 0/1:-1411.82,0,-1331.96:1347:660:667:20780:20283:660,667 chr6 129807744 . C T 14066.40 . AB=0.498689;ABP=3.03307;AC=1;AF=0.5;AN=2;AO=761;CIGAR=1X;DP=1526;DPB=1526;DPRA=0;EPP=225.125;EPPR=221.657;GTI=0;LEN=1;MEANALT=3;MQM=38.8187;MQMR=38.9047;NS=1;NUMALT=1;ODDS=2982.42;PAIRED=0.943495;PAIREDR=0.959945;PAO=0;PQA=0;PQR=0;PRO=0;QA=22232;QR=21015;RO=724;RPL=423;RPP=23.6264;RPPR=21.2579;RPR=338;RUN=1;SAF=356;SAP=9.86142;SAR=405;SF=0;SRF=326;SRP=18.5585;SRR=398;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.C7863T:p.S2621S,LAMA2:NM_000426:exon56:c.C7875T:p.S2625S;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs144448521;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.124e-05;ExAC_AFR=0.0002;ExAC_AMR=8.675e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1060;dpsi_zscore=-0.467;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.034e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.982e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1440.59,0,-1329.47:1526:724:761:22232:21015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129813053 . A G 7743.09 . AB=0.443478;ABP=25.3481;AC=14;AF=0.5;AN=28;AO=357;CIGAR=1X;DP=12275;DPB=805;DPRA=0;EPP=3.74629;EPPR=6.98795;GTI=0;LEN=1;MEANALT=3;MQM=39.7535;MQMR=39.6799;NS=1;NUMALT=1;ODDS=1519.13;PAIRED=0.985994;PAIREDR=0.990654;PAO=0;PQA=0;PQR=0;PRO=0;QA=10691;QR=12984;RO=428;RPL=157;RPP=14.2569;RPPR=18.9209;RPR=200;RUN=1;SAF=250;SAP=127.392;SAR=107;SF=0,1;SRF=306;SRP=174.78;SRR=122;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon56:c.A7894G:p.T2632A,LAMA2:NM_000426:exon57:c.A7906G:p.T2636A;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0808;esp6500siv2_ea=0.0630;esp6500siv2_all=0.0808;esp6500siv2_ea=0.0630;1000g2015aug_all=0.111621;avsnp147=rs2244008;Kaviar_AF=0.0845849;Kaviar_AC=13077;Kaviar_AN=154602;ExAC_ALL=0.0925;ExAC_AFR=0.1157;ExAC_AMR=0.0762;ExAC_EAS=0.1898;ExAC_FIN=0.1133;ExAC_NFE=0.0759;ExAC_OTH=0.0864;ExAC_SAS=0.0961;CLNALLELEID=98896;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.179;MutationTaster_pred=P;MutationAssessor_score=2.15;MutationAssessor_pred=M;FATHMM_score=-1.09;FATHMM_pred=T;PROVEAN_score=-3.06;PROVEAN_pred=D;VEST3_score=0.074;CADD_raw=2.164;CADD_phred=17.27;DANN_score=0.991;fathmm-MKL_coding_score=0.811;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.687;MetaSVM_pred=T;MetaLR_score=0.247;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.46;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=0.965;phastCons20way_mammalian=0.968;SiPhy_29way_logOdds=10.962;GDI_full_10282015=.;dpsi_max_tissue=0.5168;dpsi_zscore=1.149;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0870;gnomAD_exome_AFR=0.1113;gnomAD_exome_AMR=0.0731;gnomAD_exome_ASJ=0.0842;gnomAD_exome_EAS=0.1825;gnomAD_exome_FIN=0.1122;gnomAD_exome_NFE=0.0674;gnomAD_exome_OTH=0.0793;gnomAD_exome_SAS=0.0917;gnomAD_genome_ALL=0.0926;gnomAD_genome_AFR=0.1147;gnomAD_genome_AMR=0.0776;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.1722;gnomAD_genome_FIN=0.1155;gnomAD_genome_NFE=0.0676;gnomAD_genome_OTH=0.0806;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-682.768,0,-874.451:805:428:357:10691:12984 . . . . . . . . . . . . 0/1:-1295.58,0,-1856.01:1621:880:706:20617:27154 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-728.762,0,-877.547:827:418:387:11190:12936 0/1:-1002.89,0,-1041.89:1058:503:526:15286:15813 . . . 0/1:-571.275,0,-742.812:689:356:316:8984:11019 0/1:-908.642,0,-1017.1:979:482:473:13755:15086 . . 0/1:-909.736,0,-1100.88:1016:519:475:13888:16438 . . . . . . . 0/1:-410.493,0,-596.097:536:289:232:6646:8942 . . 0/1:-487.91,0,-559.246:572:285:268:7681:8586 . 0/1:-771.673,0,-965.377:880:454:414:11969:14413 . . . . . . . . . . . . 0/1:-529.122,0,-667.639:606:315:278:8193:9921 . . . . 0/1:-696.41,0,-867.031:817:415:378:10907:13081 . . . . . 0/1:-909.36,0,-847.096:940:431:477:13667:13006 . . . . . . . . 0/1:-968.881,0,-976.393:929:457:462:14484:14475:457,462 . . . . . . . . . . . . . . . . . chr6 129813175 . T C 7599.19 . AB=0.394794;ABP=91.6497;AC=3;AF=0.5;AN=6;AO=364;CIGAR=1X;DP=3231;DPB=922;DPRA=0;EPP=3.10575;EPPR=15.3343;GTI=0;LEN=1;MEANALT=3;MQM=38.8846;MQMR=39.9794;NS=1;NUMALT=1;ODDS=1327.72;PAIRED=0.980769;PAIREDR=0.9606;PAO=0;PQA=0;PQR=0;PRO=0;QA=10257;QR=15814;RO=533;RPL=200;RPP=10.7417;RPPR=6.92547;RPR=164;RUN=1;SAF=110;SAP=126.713;SAR=254;SF=0;SRF=167;SRP=164.347;SRR=366;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon56:c.T8016C:p.N2672N,LAMA2:NM_000426:exon57:c.T8028C:p.N2676N;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0243;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0243;esp6500siv2_ea=0.0130;1000g2015aug_all=0.0185703;avsnp147=rs35313209;Kaviar_AF=0.0131628;Kaviar_AC=2035;Kaviar_AN=154602;ExAC_ALL=0.0129;ExAC_AFR=0.0474;ExAC_AMR=0.0056;ExAC_EAS=0;ExAC_FIN=0.0062;ExAC_NFE=0.0138;ExAC_OTH=0.0110;ExAC_SAS=0.0024;CLNALLELEID=134889;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.4829;dpsi_zscore=-1.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0120;gnomAD_exome_AFR=0.0504;gnomAD_exome_AMR=0.0071;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0059;gnomAD_exome_NFE=0.0144;gnomAD_exome_OTH=0.0115;gnomAD_exome_SAS=0.0025;gnomAD_genome_ALL=0.0210;gnomAD_genome_AFR=0.0488;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-604.74,0,-1086.82:922:533:364:10257:15814 . . . . . . . . . . . 0/1:-1141.8,0,-1501.11:1465:778:654:18532:23088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-626.634,0,-909.423:844:465:364:10371:13712 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129813508 . T A 7364.38 . AB=0.478226;ABP=8.21117;AC=2;AF=0.5;AN=4;AO=604;CIGAR=1X;DP=2112;DPB=1263;DPRA=0;EPP=4.44836;EPPR=3.24039;GTI=0;LEN=1;MEANALT=3;MQM=36.4983;MQMR=37.9321;NS=1;NUMALT=1;ODDS=2229.62;PAIRED=0.930464;PAIREDR=0.930464;PAO=0;PQA=0;PQR=0;PRO=0;QA=16557;QR=17271;RO=604;RPL=217;RPP=106.91;RPPR=220.575;RPR=387;RUN=1;SAF=263;SAP=24.8832;SAR=341;SF=0;SRF=295;SRP=3.71495;SRR=309;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon57:c.T8112A:p.G2704G,LAMA2:NM_000426:exon58:c.T8124A:p.G2708G;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0166;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0166;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0171725;avsnp147=rs34997144;Kaviar_AF=0.00489;Kaviar_AC=756;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0498;ExAC_AMR=0.0052;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0033;ExAC_SAS=0.0003;CLNALLELEID=134890;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0669;dpsi_zscore=0.369;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0510;gnomAD_exome_AMR=0.0052;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0042;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0163;gnomAD_genome_AFR=0.0557;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-989.265,0,-1060.92:1263:604:604:16557:17271 . . . . . . . . . . . . . . . . . . . . 0/1:-523.971,0,-808.977:849:458:346:9342:12891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129826335 . T C 8724.05 . AB=0.455146;ABP=21.516;AC=3;AF=0.5;AN=6;AO=482;CIGAR=1X;DP=3426;DPB=1059;DPRA=0;EPP=18.1656;EPPR=47.2626;GTI=0;LEN=1;MEANALT=3;MQM=38.8797;MQMR=40.2384;NS=1;NUMALT=1;ODDS=1766.72;PAIRED=0.989627;PAIREDR=0.983364;PAO=0;PQA=0;PQR=0;PRO=0;QA=13035;QR=16366;RO=541;RPL=155;RPP=136.29;RPPR=69.8041;RPR=327;RUN=1;SAF=329;SAP=142.561;SAR=153;SF=0;SRF=382;SRP=202.613;SRR=159;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0127;1000g2015aug_all=0.00359425;avsnp147=rs113644365;Kaviar_AF=0.0090167;Kaviar_AC=1394;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0026;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0.0062;ExAC_NFE=0.0135;ExAC_OTH=0.0077;ExAC_SAS=0.0024;CLNALLELEID=98898;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1233;dpsi_zscore=0.550;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0085;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0049;gnomAD_exome_ASJ=0.0080;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0059;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0025;gnomAD_genome_ALL=0.0079;gnomAD_genome_AFR=0.0034;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-805.303,0,-1107.22:1059:541:482:13035:16366 . . . . . . . . . . . 0/1:-1165.81,0,-1496.62:1476:742:674:18516:22401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-773.257,0,-873.471:891:436:424:12115:13212 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129826383 . T C 7053.22 . AB=0.438914;ABP=31.6619;AC=1;AF=0.5;AN=2;AO=388;CIGAR=1X;DP=884;DPB=884;DPRA=0;EPP=146.283;EPPR=141.985;GTI=0;LEN=1;MEANALT=3;MQM=39.1521;MQMR=39.7459;NS=1;NUMALT=1;ODDS=1624.06;PAIRED=0.969072;PAIREDR=0.97314;PAO=0;PQA=0;PQR=0;PRO=0;QA=11616;QR=15233;RO=484;RPL=215;RPP=12.8827;RPPR=49.688;RPR=173;RUN=1;SAF=205;SAP=5.71904;SAR=183;SF=0;SRF=269;SRP=16.093;SRR=215;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon60:c.T8574C:p.Y2858Y,LAMA2:NM_000426:exon61:c.T8586C:p.Y2862Y;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000798722;avsnp147=rs142451929;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0011;ExAC_SAS=0.0003;CLNALLELEID=252111;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0357;dpsi_zscore=0.228;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-731.045,0,-1038.91:884:484:388:11616:15233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129833653 . T C 2650.38 . AB=0.467836;ABP=6.08338;AC=1;AF=0.5;AN=2;AO=160;CIGAR=1X;DP=342;DPB=342;DPRA=0;EPP=39.7082;EPPR=29.4174;GTI=0;LEN=1;MEANALT=3;MQM=39.75;MQMR=39.5057;NS=1;NUMALT=1;ODDS=610.273;PAIRED=0.9875;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4760;QR=5487;RO=174;RPL=131;RPP=144.21;RPPR=137.991;RPR=29;RUN=1;SAF=27;SAP=155.502;SAR=133;SF=0;SRF=29;SRP=170.937;SRR=145;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;1000g2015aug_all=.;avsnp147=rs201041465;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=438785;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0066;dpsi_zscore=-0.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0.0061;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.672e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-307.506,0,-365.635:342:174:160:4760:5487 . . . . . . . . . . . . . . . . . . . . . . . . . chr6 129837320 . C A 5337.01 . AB=0.465147;ABP=10.8812;AC=8;AF=0.5;AN=16;AO=347;CIGAR=1X;DP=4692;DPB=746;DPRA=0;EPP=27.8477;EPPR=29.3166;GTI=0;LEN=1;MEANALT=3;MQM=38.4179;MQMR=38.0636;NS=1;NUMALT=1;ODDS=1402.33;PAIRED=0.982709;PAIREDR=0.97201;PAO=0;PQA=0;PQR=0;PRO=0;QA=10348;QR=12189;RO=393;RPL=82;RPP=212.579;RPPR=287.727;RPR=265;RUN=1;SAF=225;SAP=69.3998;SAR=122;SF=0,1;SRF=258;SRP=86.6037;SRR=135;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0415;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0415;1000g2015aug_all=0.0091853;avsnp147=rs55776770;Kaviar_AF=0.0241135;Kaviar_AC=3728;Kaviar_AN=154602;ExAC_ALL=0.0235;ExAC_AFR=0.0061;ExAC_AMR=0.0136;ExAC_EAS=0;ExAC_FIN=0.0260;ExAC_NFE=0.0355;ExAC_OTH=0.0242;ExAC_SAS=0.0039;CLNALLELEID=252115;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0233;gnomAD_exome_AFR=0.0052;gnomAD_exome_AMR=0.0144;gnomAD_exome_ASJ=0.0384;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0236;gnomAD_exome_NFE=0.0361;gnomAD_exome_OTH=0.0239;gnomAD_exome_SAS=0.0035;gnomAD_genome_ALL=0.0231;gnomAD_genome_AFR=0.0066;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0334;gnomAD_genome_OTH=0.0337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-648.481,0,-785.725:746:393:347:10348:12189 . . . . . . . . . . . . . . . . . . . . 0/1:-542.803,0,-546.276:578:282:288:8457:8622 . . . . . . . . . 0/1:-216.242,0,-252.481:243:127:114:3511:3918 . . . . . . . . . . . . . . . . . 0/1:-403.549,0,-454.177:465:239:222:6534:7071 . . . . . . . . . . . . . . 0/1:-540.335,0,-589.066:626:322:301:8769:9312 . . . . . . . 0/1:-644.113,0,-776.823:741:388:348:10369:11837 . . . . . . . . 0/1:-460.62,0,-446.558:472:224:241:7115:6996 . . . . . . . . . . . . . . . . . . . 0/1:-878.871,0,-835.072:821:402:415:13079:12554:402,415 . . . . . . . . . chr6 133767787 . C T 9378.74 . AB=0.450085;ABP=28.5903;AC=1;AF=0.5;AN=2;AO=532;CIGAR=1X;DP=1182;DPB=1182;DPRA=0;EPP=52.3991;EPPR=110.118;GTI=0;LEN=1;MEANALT=3;MQM=38.4511;MQMR=39.9809;NS=1;NUMALT=1;ODDS=2159.54;PAIRED=0.941729;PAIREDR=0.968153;PAO=0;PQA=0;PQR=0;PRO=0;QA=15406;QR=18590;RO=628;RPL=233;RPP=20.7903;RPPR=112.566;RPR=299;RUN=1;SAF=246;SAP=9.54104;SAR=286;SF=0;SRF=315;SRP=3.02413;SRR=313;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon4:c.C103T:p.L35L,EYA4:NM_001301013:exon4:c.C103T:p.L35L,EYA4:NM_004100:exon4:c.C103T:p.L35L,EYA4:NM_172103:exon4:c.C103T:p.L35L,EYA4:NM_172105:exon4:c.C103T:p.L35L;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.0071;esp6500siv2_ea=.;esp6500siv2_all=0.0071;esp6500siv2_ea=.;1000g2015aug_all=0.00579073;avsnp147=rs35562371;Kaviar_AF=0.002044;Kaviar_AC=316;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0232;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.493e-05;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=53936;CLNDN=Dilated_cardiomyopathy_1J|not_specified;CLNDISDB=MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5316;dpsi_zscore=-1.122;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0244;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.166e-05;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0060;gnomAD_genome_AFR=0.0204;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.7e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-955.011,0,-1250.41:1182:628:532:15406:18590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 133767795 . T C 8113.26 . AB=0.423729;ABP=59.6526;AC=1;AF=0.5;AN=2;AO=475;CIGAR=1X;DP=1121;DPB=1121;DPRA=0;EPP=13.9865;EPPR=87.9916;GTI=0;LEN=1;MEANALT=3;MQM=38.1305;MQMR=39.9868;NS=1;NUMALT=1;ODDS=1868.15;PAIRED=0.936842;PAIREDR=0.970297;PAO=0;PQA=0;PQR=0;PRO=0;QA=13748;QR=18500;RO=606;RPL=175;RPP=74.4403;RPPR=132.367;RPR=300;RUN=1;SAF=200;SAP=28.7251;SAR=275;SF=0;SRF=308;SRP=3.36863;SRR=298;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon4:c.T111C:p.S37S,EYA4:NM_001301013:exon4:c.T111C:p.S37S,EYA4:NM_004100:exon4:c.T111C:p.S37S,EYA4:NM_172103:exon4:c.T111C:p.S37S,EYA4:NM_172105:exon4:c.T111C:p.S37S;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=.;esp6500siv2_all=0.0059;esp6500siv2_ea=.;1000g2015aug_all=0.00479233;avsnp147=rs35863035;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0178;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=53937;CLNDN=Dilated_cardiomyopathy_1J|not_specified;CLNDISDB=MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7611;dpsi_zscore=1.358;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0189;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.269e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0049;gnomAD_genome_AFR=0.0166;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-833.589,0,-1259.84:1121:606:475:13748:18500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 133777731 . C T 8578.91 . AB=0.425267;ABP=57.5367;AC=1;AF=0.5;AN=2;AO=478;CIGAR=1X;DP=1124;DPB=1124;DPRA=0;EPP=3.0103;EPPR=9.14889;GTI=0;LEN=1;MEANALT=3;MQM=39.0774;MQMR=39.3189;NS=1;NUMALT=1;ODDS=1975.37;PAIRED=0.945607;PAIREDR=0.942308;PAO=0;PQA=0;PQR=0;PRO=0;QA=14122;QR=19122;RO=624;RPL=205;RPP=24.0163;RPPR=32.4644;RPR=273;RUN=1;SAF=210;SAP=18.2924;SAR=268;SF=0;SRF=269;SRP=28.7478;SRR=355;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_172103:exon5:c.C246T:p.S82S,EYA4:NM_001301013:exon6:c.C315T:p.S105S,EYA4:NM_004100:exon6:c.C315T:p.S105S,EYA4:NM_172105:exon6:c.C315T:p.S105S;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs754088992;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.7122;dpsi_zscore=-2.091;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.961e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-873.665,0,-1290.24:1124:624:478:14122:19122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 133782375 . T A 8503.63 . AB=0.525122;ABP=6.39245;AC=15;AF=0.5;AN=30;AO=324;CIGAR=1X;DP=12478;DPB=617;DPRA=0;EPP=3.03711;EPPR=17.5068;GTI=0;LEN=1;MEANALT=3;MQM=40.679;MQMR=40.4552;NS=1;NUMALT=1;ODDS=1356.43;PAIRED=0.978395;PAIREDR=0.986207;PAO=0;PQA=0;PQR=0;PRO=0;QA=10144;QR=9113;RO=290;RPL=207;RPP=57.2971;RPPR=13.8227;RPR=117;RUN=1;SAF=132;SAP=27.1378;SAR=192;SF=0,1;SRF=115;SRP=29.9665;SRR=175;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.1378;esp6500siv2_ea=0.0669;esp6500siv2_all=0.1378;esp6500siv2_ea=0.0669;1000g2015aug_all=0.201278;avsnp147=rs3756873;Kaviar_AF=0.0211705;Kaviar_AC=3273;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0696;dpsi_zscore=-0.346;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1383;gnomAD_genome_AFR=0.2964;gnomAD_genome_AMR=0.1526;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.2949;gnomAD_genome_FIN=0.0329;gnomAD_genome_NFE=0.0603;gnomAD_genome_OTH=0.0652;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-692.806,0,-602.218:617:290:324:10144:9113 . . . . . . . . . . . . . 0/1:-1420.88,0,-1686.86:1438:751:680:21393:24410 . . . 0/1:-983.579,0,-1247.77:1036:553:480:15115:18079 . . 0/1:-958.336,0,-1228.26:1022:551:469:14668:17799 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-881.001,0,-677.922:750:329:415:12725:10425 0/1:-1178.22,0,-957.017:988:441:543:17100:14359 . . . . . . 0/1:-791.195,0,-930.946:790:416:372:11936:13471 . . . . . . . . 0/1:-948.318,0,-1102.51:956:497:455:14376:16069 . 0/1:-801.875,0,-970.091:833:436:394:12227:14073 . 0/1:-949.622,0,-950.286:910:441:466:14371:14109 . . . . . . . 0/1:-1102.87,0,-1105.4:1030:503:524:16434:16293 . . . . 0/1:-935.954,0,-1093.66:939:492:443:14107:16043 . . . . . . . . . . . . . . . . . 0/1:-461.107,0,-457.155:408:202:204:6677:6687:202,204 . . . . 0/1:-434.434,0,-437.998:395:196:196:6349:6419:196,196 . . . 0/1:-359.354,0,-458.894:366:198:168:5390:6547:198,168 . . . . . . chr6 133783625 . ATCTTCTG ATCTG 9359.46 . AB=0.44194;ABP=45.8761;AC=1;AF=0.5;AN=2;AO=647;CIGAR=1M3D4M;DP=1464;DPB=1232.5;DPRA=0;EPP=249.494;EPPR=239.966;GTI=0;LEN=3;MEANALT=56;MQM=38.0155;MQMR=39.7311;NS=1;NUMALT=1;ODDS=2155.1;PAIRED=0.978362;PAIREDR=0.976744;PAO=17;PQA=461.5;PQR=752.5;PRO=28;QA=16251;QR=21663;RO=688;RPL=206;RPP=188.357;RPPR=194.011;RPR=441;RUN=1;SAF=453;SAP=228.149;SAR=194;SF=0;SRF=478;SRP=229.702;SRR=210;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.0478;esp6500siv2_ea=0.0177;esp6500siv2_all=0.0478;esp6500siv2_ea=0.0177;1000g2015aug_all=0.058107;avsnp147=rs139659489;Kaviar_AF=0.0004463;Kaviar_AC=69;Kaviar_AN=154602;ExAC_ALL=0.0221;ExAC_AFR=0.1031;ExAC_AMR=0.0044;ExAC_EAS=0.0912;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0165;ExAC_SAS=0.0434;CLNALLELEID=174345;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0194;gnomAD_exome_AFR=0.1021;gnomAD_exome_AMR=0.0056;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0.0920;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0093;gnomAD_exome_SAS=0.0426;gnomAD_genome_ALL=0.0330;gnomAD_genome_AFR=0.0986;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0829;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1011.83,0,-1480.27:1464:688:647:16251:21663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 133789728 . G A 13046.92 . AB=0.427835;ABP=46.8875;AC=79;AF=0.5;AN=130;AO=415;CIGAR=1X;DP=63416;DPB=970;DPRA=0;EPP=56.3867;EPPR=17.0865;GTI=0;LEN=1;MEANALT=3;MQM=40.4096;MQMR=40.6648;NS=1;NUMALT=1;ODDS=1923.1;PAIRED=0.990361;PAIREDR=0.962756;PAO=0;PQA=0;PQR=0;PRO=0;QA=13187;QR=16547;RO=537;RPL=232;RPP=15.5734;RPPR=45.91;RPR=183;RUN=1;SAF=196;SAP=5.77827;SAR=219;SF=0,1;SRF=244;SRP=12.7192;SRR=293;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S\x3bEYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.3830;esp6500siv2_ea=0.3128;esp6500siv2_all=0.3830;esp6500siv2_ea=0.3128;1000g2015aug_all=0.409545;avsnp147=rs9493627;Kaviar_AF=0.339142;Kaviar_AC=52432;Kaviar_AN=154602;ExAC_ALL=0.3417;ExAC_AFR=0.5308;ExAC_AMR=0.2865;ExAC_EAS=0.3561;ExAC_FIN=0.2352;ExAC_NFE=0.3197;ExAC_OTH=0.3623;ExAC_SAS=0.3833;CLNALLELEID=53940;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_pred=T;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.868;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.535;MutationAssessor_pred=L;FATHMM_score=-1.69;FATHMM_pred=D;PROVEAN_score=-1.69;PROVEAN_pred=N;VEST3_score=0.599;CADD_raw=5.411;CADD_phred=26.0;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.202;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.744;GDI_full_10282015=.;dpsi_max_tissue=-3.3628;dpsi_zscore=-2.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3319;gnomAD_exome_AFR=0.5373;gnomAD_exome_AMR=0.2802;gnomAD_exome_ASJ=0.2986;gnomAD_exome_EAS=0.3539;gnomAD_exome_FIN=0.2424;gnomAD_exome_NFE=0.3223;gnomAD_exome_OTH=0.3253;gnomAD_exome_SAS=0.3848;gnomAD_genome_ALL=0.3712;gnomAD_genome_AFR=0.5435;gnomAD_genome_AMR=0.3173;gnomAD_genome_ASJ=0.3146;gnomAD_genome_EAS=0.3489;gnomAD_genome_FIN=0.2466;gnomAD_genome_NFE=0.3103;gnomAD_genome_OTH=0.3119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-853.313,0,-1147.1:970:537:415:13187:16547 . . 0/1:-1159.57,0,-1330.44:1228:628:577:17696:19792 1/1:-2156.73,-226.837,0:833:8:818:25494:247 0/1:-1067.58,0,-1345.72:1205:628:546:16650:19812 0/1:-872.982,0,-948.449:915:457:438:13452:14122 . . . 0/1:-1061.81,0,-946.536:1001:469:514:16092:14455 . 0/1:-737.295,0,-800.316:745:371:360:11183:11884 0/1:-1303.88,0,-1319:1278:634:626:19469:19819 . . . . . 1/1:-2696.79,-269.284,0:1052:16:1026:32222:511 1/1:-1551.36,-151.634,0:638:17:609:18587:450 . 0/1:-1184.34,0,-1457.98:1282:674:593:18192:21246 . 1/1:-2705.11,-271.402,0:1035:14:1012:31742:424 0/1:-1007.13,0,-1346.87:1130:609:507:15777:19530 0/1:-658.762,0,-968.74:839:466:349:10659:14237 . 0/1:-814.646,0,-1037.19:894:477:404:12732:15111 . . . 0/1:-981.1,0,-1130.96:1022:531:473:14925:16636 0/1:-1350.49,0,-1312.03:1277:616:637:20106:19596 0/1:-312.469,0,-367.21:337:177:158:4828:5403 . 0/1:-1001.39,0,-900.771:953:445:493:15144:13744 0/1:-351.085,0,-303.143:333:156:168:5206:4712 . . . . . . . . . 0/1:-1211.45,0,-1322.23:1233:626:594:18284:19548 . 1/1:-2662.51,-285.858,0:1050:12:1028:31570:334 0/1:-1261.94,0,-1251.55:1220:591:609:18890:18651 . 0/1:-804.921,0,-924.131:846:436:394:12365:13632 0/1:-754.755,0,-924.698:814:428:371:11577:13442 1/1:-2669.75,-270.7,0:1025:14:1002:31327:412 . 0/1:-752.176,0,-965.399:852:450:392:11844:14128 0/1:-1218.89,0,-1197.1:1194:578:596:18324:18023 0/1:-773.542,0,-685.448:735:343:373:11661:10532 1/1:-3447.09,-359.125,0:1333:15:1305:40595:449 1/1:-2359.66,-250.963,0:887:5:875:27663:158 0/1:-897.063,0,-727.756:802:359:434:13345:11196 0/1:-1183.49,0,-1273.78:1185:592:577:17831:18929 0/1:-1057.26,0,-1161.93:1074:541:514:16094:17160 0/1:-568.308,0,-581.823:553:274:272:8550:8702 0/1:-956.555,0,-1072.69:977:499:459:14297:15803 0/1:-857.377,0,-909.735:853:425:418:12908:13390 0/1:-978.423,0,-1164.3:1075:554:499:15178:17248 . 1/1:-3356.49,-350.337,0:1270:11:1248:39151:346 . . 0/1:-641.196,0,-1075.51:853:500:333:10383:15572 . 0/1:-1139,0,-1246.1:1169:592:557:17349:18643 . 0/1:-629.856,0,-761.736:672:351:305:9589:11215 . 0/1:-1175.15,0,-1120.28:1136:541:573:17867:17069 0/1:-1097.62,0,-1210.66:1122:563:536:16846:17822 0/1:-1102.31,0,-1507.49:1275:699:556:17157:21979 . 1/1:-2235.1,-205.076,0:883:19:854:26821:658 1/1:-2589.11,-266.292,0:998:11:970:30788:331 1/1:-1714.93,-184.544,0:650:4:644:20199:120 . . . . . 1/1:-2822.32,-294.292,0:1091:11:1067:33256:343 0/1:-1081.12,0,-1183.68:1103:556:526:16454:17525 0/1:-1362.84,0,-984.868:1145:486:640:20031:15245 . . . 0/1:-1239.6,0,-1250.59:1139:566:559:18142:18412:566,559 0/1:-802.033,0,-863.315:776:393:375:12002:12607:393,375 0/1:-1047.15,0,-1206.75:1031:537:481:15631:17273:537,481 0/1:-1067.65,0,-1366.32:1116:611:492:16105:19712:611,492 0/1:-1061.65,0,-1059.94:965:478:478:15534:15490:478,478 . 0/1:-1056.29,0,-1129.29:1001:513:479:15529:16348:513,479 . 0/1:-1170.59,0,-1031.84:1002:466:523:16802:15289:466,523 . 0/1:-1031.06,0,-1039.63:962:475:470:15113:15309:475,470 0/1:-1005.76,0,-1180.93:1020:534:473:15095:17021:534,473 . 0/1:-1017.42,0,-894.404:905:426:469:14947:13448:426,469 0/1:-936.156,0,-904.651:864:431:423:13729:13352:431,423 1/1:-2473.03,-251.765,0:885:6:872:28658:141:6,872 0/1:-800.657,0,-850.824:761:383:365:11761:12334:383,365 0/1:-1087.56,0,-985.127:947:457:484:15906:14605:457,484 chr6 133789728 . G A 11179.51 . AB=0.490781;ABP=3.85105;AC=15;AF=0.5;AN=28;AO=559;CIGAR=1X;DP=13374;DPB=1139;DPRA=0;EPP=13.1141;EPPR=27.5641;GTI=0;LEN=1;MEANALT=3;MQM=41.0411;MQMR=40.6466;NS=1;NUMALT=1;ODDS=2829.54;PAIRED=0.962433;PAIREDR=0.959364;PAO=0;PQA=0;PQR=0;PRO=0;QA=18142;QR=18412;RO=566;RPL=310;RPP=17.4648;RPPR=15.0416;RPR=249;RUN=1;SAF=267;SAP=5.43815;SAR=292;SF=1;SRF=288;SRP=3.39395;SRR=278;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S\x3bEYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.3830;esp6500siv2_ea=0.3128;esp6500siv2_all=0.3830;esp6500siv2_ea=0.3128;1000g2015aug_all=0.409545;avsnp147=rs9493627;Kaviar_AF=0.339142;Kaviar_AC=52432;Kaviar_AN=154602;ExAC_ALL=0.3417;ExAC_AFR=0.5308;ExAC_AMR=0.2865;ExAC_EAS=0.3561;ExAC_FIN=0.2352;ExAC_NFE=0.3197;ExAC_OTH=0.3623;ExAC_SAS=0.3833;CLNALLELEID=53940;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_pred=T;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.868;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.535;MutationAssessor_pred=L;FATHMM_score=-1.69;FATHMM_pred=D;PROVEAN_score=-1.69;PROVEAN_pred=N;VEST3_score=0.599;CADD_raw=5.411;CADD_phred=26.0;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.202;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.744;GDI_full_10282015=.;dpsi_max_tissue=-3.3628;dpsi_zscore=-2.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3319;gnomAD_exome_AFR=0.5373;gnomAD_exome_AMR=0.2802;gnomAD_exome_ASJ=0.2986;gnomAD_exome_EAS=0.3539;gnomAD_exome_FIN=0.2424;gnomAD_exome_NFE=0.3223;gnomAD_exome_OTH=0.3253;gnomAD_exome_SAS=0.3848;gnomAD_genome_ALL=0.3712;gnomAD_genome_AFR=0.5435;gnomAD_genome_AMR=0.3173;gnomAD_genome_ASJ=0.3146;gnomAD_genome_EAS=0.3489;gnomAD_genome_FIN=0.2466;gnomAD_genome_NFE=0.3103;gnomAD_genome_OTH=0.3119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1239.6,0,-1250.59:1139:566:559:18142:18412:566,559 0/1:-802.033,0,-863.315:776:393:375:12002:12607:393,375 0/1:-1047.15,0,-1206.75:1031:537:481:15631:17273:537,481 0/1:-1067.65,0,-1366.32:1116:611:492:16105:19712:611,492 0/1:-1061.65,0,-1059.94:965:478:478:15534:15490:478,478 . 0/1:-1056.29,0,-1129.29:1001:513:479:15529:16348:513,479 . 0/1:-1170.59,0,-1031.84:1002:466:523:16802:15289:466,523 . 0/1:-1031.06,0,-1039.63:962:475:470:15113:15309:475,470 0/1:-1005.76,0,-1180.93:1020:534:473:15095:17021:534,473 . 0/1:-1017.42,0,-894.404:905:426:469:14947:13448:426,469 0/1:-936.156,0,-904.651:864:431:423:13729:13352:431,423 1/1:-2473.03,-251.765,0:885:6:872:28658:141:6,872 0/1:-800.657,0,-850.824:761:383:365:11761:12334:383,365 0/1:-1087.56,0,-985.127:947:457:484:15906:14605:457,484 chr6 133827354 . A G 10380.81 . AB=0.426003;ABP=37.3965;AC=136;AF=0.5;AN=196;AO=308;CIGAR=1X;DP=69162;DPB=723;DPRA=0;EPP=26.7273;EPPR=20.7814;GTI=0;LEN=1;MEANALT=3;MQM=39.0584;MQMR=39.4055;NS=1;NUMALT=1;ODDS=1264.1;PAIRED=0.951299;PAIREDR=0.962217;PAO=0;PQA=0;PQR=0;PRO=0;QA=9605;QR=12345;RO=397;RPL=262;RPP=331.946;RPPR=331.329;RPR=46;RUN=1;SAF=137;SAP=11.1604;SAR=171;SF=0,1;SRF=203;SRP=3.45335;SRR=194;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_exonic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.6097;esp6500siv2_ea=0.5607;esp6500siv2_all=0.6097;esp6500siv2_ea=0.5607;1000g2015aug_all=0.722244;avsnp147=rs2277083;Kaviar_AF=0.610561;Kaviar_AC=94394;Kaviar_AN=154602;ExAC_ALL=0.6335;ExAC_AFR=0.7183;ExAC_AMR=0.6870;ExAC_EAS=0.7983;ExAC_FIN=0.5126;ExAC_NFE=0.5672;ExAC_OTH=0.6317;ExAC_SAS=0.7698;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4813;dpsi_zscore=-1.073;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6265;gnomAD_exome_AFR=0.7143;gnomAD_exome_AMR=0.6688;gnomAD_exome_ASJ=0.5654;gnomAD_exome_EAS=0.8001;gnomAD_exome_FIN=0.5162;gnomAD_exome_NFE=0.5633;gnomAD_exome_OTH=0.6047;gnomAD_exome_SAS=0.7692;gnomAD_genome_ALL=0.6175;gnomAD_genome_AFR=0.7192;gnomAD_genome_AMR=0.6734;gnomAD_genome_ASJ=0.5695;gnomAD_genome_EAS=0.7901;gnomAD_genome_FIN=0.5186;gnomAD_genome_NFE=0.5620;gnomAD_genome_OTH=0.5957;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-597.658,0,-842.457:723:397:308:9605:12345 . 0/1:-836.575,0,-791.368:819:393:415:12551:12116 0/1:-617.236,0,-512.683:573:254:307:9302:7904 0/1:-924.235,0,-817.778:862:396:451:13873:12534 0/1:-903.489,0,-929.64:953:452:471:13779:14061 1/1:-1976.94,-212.566,0:817:12:784:23300:305 0/1:-763.911,0,-794.955:766:376:381:11491:11978 1/1:-1478.93,-149.304,0:602:12:579:17527:375 . 1/1:-1745.68,-202.914,0:717:3:694:20739:78 0/1:-819.023,0,-808.834:823:399:410:12393:12542 1/1:-1949.91,-213.485,0:787:7:760:22899:217 . 0/1:-692.105,0,-624.019:655:303:337:10390:9450 0/1:-1043.15,0,-1026.31:1058:499:533:15937:15615 0/1:-652.178,0,-680.977:677:329:334:9942:10356 0/1:-1221.61,0,-1575.26:1407:728:655:19438:23299 . . . 0/1:-1037.72,0,-1154.41:1055:535:506:15568:17120 1/1:-1393.82,-155.498,0:571:5:551:16428:136 0/1:-708.78,0,-945.896:818:443:366:11127:14046 1/1:-2051.67,-222.843,0:859:10:813:24187:282 0/1:-668.214,0,-600.937:657:304:338:10058:9536 0/1:-804.803,0,-757.483:776:369:398:12127:11582 1/1:-2005.5,-218.494,0:815:9:786:23706:245 0/1:-619.19,0,-517.557:581:257:310:9312:8068 . 0/1:-687.785,0,-878.855:778:411:354:10656:12974 1/1:-2689.23,-306.425,0:1061:3:1039:31481:82 0/1:-621.15,0,-1004.12:812:457:345:10301:14601 1/1:-646.087,-60.7136,0:275:8:261:7931:235 0/1:-843.344,0,-929.604:881:439:419:12797:13899 1/1:-2113.3,-234.361,0:864:7:831:25005:208 0/1:-342.275,0,-419.206:386:198:183:5462:6150 0/1:-990.663,0,-1145.27:1057:530:502:15050:17131 0/1:-582.689,0,-901.48:751:413:322:9626:12994 1/1:-866.78,-96.142,0:340:2:331:10140:46 . 1/1:-1522.92,-163.476,0:622:6:598:18057:208 1/1:-2059.02,-232.255,0:815:4:790:24162:85 0/1:-762.415,0,-862.513:795:394:385:11597:12683 1/1:-2752.34,-314.734,0:1111:3:1074:32174:108 0/1:-728.914,0,-822.719:765:381:367:11151:12212 . 0/1:-460.668,0,-546.502:500:256:234:7146:8080 0/1:-625.254,0,-864.797:745:403:333:9974:12618 0/1:-887.336,0,-1093.09:955:499:444:13721:16021 0/1:-828.9,0,-848.829:821:398:408:12440:12601 1/1:-1910.4,-205.47,0:815:11:772:22791:344 0/1:-864.226,0,-885.681:865:422:430:12922:13262 . 0/1:-680.929,0,-771.57:732:371:348:10409:11488 1/1:-1563.66,-173.58,0:630:4:602:18146:99 1/1:-1951.74,-203.037,0:774:9:746:22918:276 . 0/1:-550.925,0,-465.165:520:237:269:8168:7206 1/1:-1487,-163.679,0:615:6:592:17648:186 0/1:-460.345,0,-622.531:564:304:247:7318:9421 1/1:-2254.81,-223.905,0:906:16:868:26706:543 1/1:-1757.97,-186.655,0:699:6:675:20527:208 0/1:-521.281,0,-622.968:587:296:277:8293:9249 1/1:-2430.27,-270.771,0:1010:8:966:28922:256 1/1:-1825.16,-197.579,0:733:8:709:21249:218 1/1:-1277.88,-138.488,0:547:9:519:15304:294 1/1:-2369.15,-270.163,0:953:5:922:27636:127 0/1:-553.574,0,-715.458:625:332:288:8625:10459 0/1:-803.291,0,-878.922:858:422:422:12347:13168 . 1/1:-2166.29,-253.014,0:871:1:850:25306:36 0/1:-847.767,0,-1062.4:968:504:443:13207:15604 1/1:-1356.51,-157.708,0:618:9:582:16366:228 0/1:-594.994,0,-835.613:706:391:303:9396:12215 0/1:-776.779,0,-1034.6:906:484:409:12179:15311 1/1:-2229.29,-250.453,0:897:6:869:26046:146 0/1:-749.607,0,-1081.12:914:504:394:11883:15799 1/1:-1324.94,-144.114,0:554:7:526:15682:186 . 0/1:-819.246,0,-825.442:841:408:419:12528:12818 0/1:-701.7,0,-943.933:844:446:384:11306:13847 0/1:-814.783,0,-939.93:864:439:413:12428:14011 0/1:-712.36,0,-748.764:748:357:371:10926:11288 1/1:-1579.76,-167.277,0:652:10:625:18857:317 1/1:-1511.09,-165.481,0:623:7:602:17860:213 1/1:-1375.6,-143.987,0:562:8:540:16238:249 . 1/1:-1245.42,-145.923,0:509:2:495:14519:41 0/1:-849.528,0,-841.953:864:419:427:12756:12858 1/1:-2438.85,-255.329,0:1011:15:967:28757:457 . 1/1:-2254.58,-250.632,0:901:6:871:26341:150 1/1:-1865.68,-201.539,0:753:7:725:22022:213 0/1:-851.513,0,-954.409:906:446:446:13170:14247 . 0/1:-429.043,0,-449.762:408:206:199:6357:6633:206,199 0/1:-505.558,0,-382.892:421:183:230:7196:5918:183,230 0/1:-566.057,0,-533.868:513:247:260:8300:7927:247,260 1/1:-637.326,-66.8239,0:250:2:240:7398:68:2,240 0/1:-424.735,0,-404.963:400:190:201:6277:6077:190,201 0/1:-531.848,0,-546.891:505:250:248:7935:8147:250,248 0/1:-418.996,0,-403.654:384:183:197:6192:6027:183,197 0/1:-534.59,0,-485.217:471:222:244:7785:7276:222,244 0/1:-436.462,0,-455.197:421:211:204:6439:6727:211,204 . 0/1:-472.234,0,-500.292:452:224:224:7057:7284:224,224 . 0/1:-397.585,0,-449.878:405:206:194:6028:6670:206,194 0/1:-414.551,0,-450.018:409:209:195:6248:6606:209,195 0/1:-425.478,0,-428.69:394:193:198:6363:6269:193,198 1/1:-1156.62,-123.319,0:433:2:424:13557:68:2,424 0/1:-499.139,0,-507.454:468:234:231:7392:7517:234,231 1/1:-1033.26,-112.177,0:392:2:379:11994:28:2,379 0/1:-453.056,0,-523.326:454:232:219:6760:7692:232,219 0/1:-375.736,0,-343.605:332:153:174:5468:5059:153,174 chr6 133836430 . G A 6159.85 . AB=0.453408;ABP=16.5677;AC=3;AF=0.5;AN=6;AO=326;CIGAR=1X;DP=2092;DPB=719;DPRA=0;EPP=17.1049;EPPR=14.0734;GTI=0;LEN=1;MEANALT=3;MQM=39.7055;MQMR=39.2553;NS=1;NUMALT=1;ODDS=1384.18;PAIRED=0.996933;PAIREDR=0.978947;PAO=0;PQA=0;PQR=0;PRO=0;QA=9661;QR=11630;RO=380;RPL=141;RPP=15.9059;RPPR=6.30179;RPR=185;RUN=1;SAF=201;SAP=41.484;SAR=125;SF=0,1;SRF=224;SRP=29.4337;SRR=156;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0164;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0164;1000g2015aug_all=0.00539137;avsnp147=rs56378005;Kaviar_AF=0.0122961;Kaviar_AC=1901;Kaviar_AN=154602;ExAC_ALL=0.0120;ExAC_AFR=0.0025;ExAC_AMR=0.0078;ExAC_EAS=0.0001;ExAC_FIN=0.0098;ExAC_NFE=0.0165;ExAC_OTH=0.0242;ExAC_SAS=0.0093;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1090;dpsi_zscore=-0.476;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0127;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0075;gnomAD_exome_ASJ=0.0330;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0090;gnomAD_exome_NFE=0.0174;gnomAD_exome_OTH=0.0181;gnomAD_exome_SAS=0.0090;gnomAD_genome_ALL=0.0089;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0140;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-616.195,0,-770.665:719:380:326:9661:11630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-668.431,0,-851.705:773:413:346:10430:12678 . . . . . . . . . . . . . . . . . 0/1:-569.212,0,-693.373:600:323:273:8627:10014:323,273 . . . chr6 133849868 . C T 9137.26 . AB=0.461069;ABP=20.2561;AC=3;AF=0.5;AN=6;AO=604;CIGAR=1X;DP=3156;DPB=1310;DPRA=0;EPP=17.736;EPPR=30.3481;GTI=0;LEN=1;MEANALT=3;MQM=38.8841;MQMR=39.1004;NS=1;NUMALT=1;ODDS=2635.29;PAIRED=0.961921;PAIREDR=0.943231;PAO=0;PQA=0;PQR=0;PRO=0;QA=18493;QR=21609;RO=687;RPL=298;RPP=3.24039;RPPR=3.08932;RPR=306;RUN=1;SAF=408;SAP=164.591;SAR=196;SF=0;SRF=453;SRP=154.606;SRR=234;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon18:c.C1683T:p.N561N,EYA4:NM_172103:exon19:c.C1776T:p.N592N,EYA4:NM_001301013:exon20:c.C1863T:p.N621N,EYA4:NM_004100:exon20:c.C1845T:p.N615N,EYA4:NM_172105:exon20:c.C1845T:p.N615N;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0128;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0128;1000g2015aug_all=0.0081869;avsnp147=rs142721902;Kaviar_AF=0.0116751;Kaviar_AC=1805;Kaviar_AN=154602;ExAC_ALL=0.0124;ExAC_AFR=0.0021;ExAC_AMR=0.0045;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0143;ExAC_OTH=0.0077;ExAC_SAS=0.0269;CLNALLELEID=44695;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0038;gnomAD_exome_ASJ=0.0414;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0033;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0260;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0107;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-1171.75,0,-1433.58:1310:687:604:18493:21609 . . . . . . . . . . . . . . 0/1:-890.824,0,-993.055:971:500:458:14046:15565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-760.373,0,-964.785:875:464:401:12392:14552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 133849966 . C T 11204.67 . AB=0.495039;ABP=3.20422;AC=85;AF=0.5;AN=146;AO=449;CIGAR=1X;DP=73236;DPB=907;DPRA=0;EPP=3.24728;EPPR=3.4184;GTI=0;LEN=1;MEANALT=3;MQM=39.7372;MQMR=39.0162;NS=1;NUMALT=1;ODDS=1831.59;PAIRED=0.973274;PAIREDR=0.953596;PAO=0;PQA=0;PQR=0;PRO=0;QA=12798;QR=12699;RO=431;RPL=274;RPP=50.4103;RPPR=52.3899;RPR=175;RUN=1;SAF=252;SAP=17.6399;SAR=197;SF=0,1;SRF=247;SRP=23.007;SRR=184;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.3327;esp6500siv2_ea=0.3865;esp6500siv2_all=0.3327;esp6500siv2_ea=0.3865;1000g2015aug_all=0.471046;avsnp147=rs3734279;Kaviar_AF=0.0021022;Kaviar_AC=325;Kaviar_AN=154602;ExAC_ALL=0.4343;ExAC_AFR=0.2278;ExAC_AMR=0.5760;ExAC_EAS=0.6499;ExAC_FIN=0.3959;ExAC_NFE=0.3777;ExAC_OTH=0.4283;ExAC_SAS=0.5970;CLNALLELEID=299116;CLNDN=Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4429;gnomAD_exome_AFR=0.2247;gnomAD_exome_AMR=0.5566;gnomAD_exome_ASJ=0.3744;gnomAD_exome_EAS=0.6539;gnomAD_exome_FIN=0.3965;gnomAD_exome_NFE=0.3807;gnomAD_exome_OTH=0.4189;gnomAD_exome_SAS=0.5935;gnomAD_genome_ALL=0.3668;gnomAD_genome_AFR=0.2282;gnomAD_genome_AMR=0.5453;gnomAD_genome_ASJ=0.3245;gnomAD_genome_EAS=0.6538;gnomAD_genome_FIN=0.4018;gnomAD_genome_NFE=0.3957;gnomAD_genome_OTH=0.4232;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-833.186,0,-809.662:907:431:449:12798:12699 . . 0/1:-622.053,0,-575.133:661:302:343:9446:8891 0/1:-892.033,0,-1043.75:1075:529:509:14102:15847 0/1:-977.625,0,-1283.31:1213:631:553:15516:18931 0/1:-809.157,0,-959.124:960:487:458:12769:14419 0/1:-759.59,0,-1013:975:503:444:12284:15064 0/1:-766.779,0,-913.929:904:458:418:12017:13611 . 0/1:-837.146,0,-795.348:917:431:462:12945:12342 0/1:-1051.65,0,-876.45:1030:456:549:15773:13641 0/1:-849.968,0,-819.176:917:435:466:13096:12713 . 0/1:-741.593,0,-746.878:811:388:402:11431:11391 0/1:-1317.71,0,-1120.58:1335:588:720:19960:17487 . 0/1:-1783.29,0,-1729.08:1892:907:942:26965:26530 . . . 0/1:-1106.51,0,-1266.43:1273:641:602:17235:18954 0/1:-670.803,0,-577.139:707:322:364:10230:9150 0/1:-1198.03,0,-1114.73:1268:577:657:18346:17291 1/1:-2654.3,-302.449,0:1164:16:1126:31480:482 0/1:-678.697,0,-837.433:840:440:384:10856:12726 0/1:-773.653,0,-924.877:927:469:432:12135:13898 0/1:-1172.49,0,-1042.06:1187:539:616:17806:16070 0/1:-895.255,0,-697.526:890:389:473:13657:11273 . 0/1:-839.115,0,-949.91:965:488:450:13107:14257 1/1:-3152.44,-347.892,0:1341:16:1295:37350:531 0/1:-942.614,0,-1058.74:1105:557:523:14684:16061 0/1:-291.955,0,-290.924:338:161:167:4549:4553 . 0/1:-1091.76,0,-1076.09:1166:558:582:16587:16453 . 0/1:-1074.92,0,-1021.49:1148:538:582:16500:15801 0/1:-860.414,0,-836.674:944:445:469:13342:13002 1/1:-1113.13,-130.546,0:464:2:446:12893:48 . 0/1:-711.414,0,-744.872:784:380:389:10928:11237 1/1:-2276.9,-268.993,0:968:8:946:26951:205 0/1:-879.272,0,-897.252:992:479:480:13577:13716 1/1:-3102.43,-351.718,0:1300:11:1264:36564:364 0/1:-904.452,0,-939.345:1015:488:495:14036:14364 . 0/1:-605.53,0,-607.169:629:303:315:9087:9160 0/1:-697.498,0,-776.543:798:396:385:10793:11700 0/1:-1187.68,0,-1334.91:1338:669:633:18286:19879 0/1:-1005.41,0,-960.911:1065:512:530:15263:14867 0/1:-950.82,0,-915.394:1050:492:528:14790:14274 . . . 1/1:-2049.85,-240.563,0:848:6:829:24013:123 0/1:-948.636,0,-1168.46:1126:577:522:14809:17503 . . 1/1:-2070.01,-246.754,0:878:5:852:24224:127 . 0/1:-1142.55,0,-1430.32:1387:725:631:18232:21511 0/1:-786.171,0,-738.35:816:386:410:11983:11270 . 0/1:-1091.5,0,-1275.73:1257:635:586:17119:18900 1/1:-2524.98,-299.284,0:1068:7:1047:29519:204 0/1:-602.26,0,-668.539:717:355:337:9449:10226 1/1:-2633.03,-280.998,0:1117:17:1082:31345:577 0/1:-863.52,0,-700.411:857:372:455:13018:10930 0/1:-986.498,0,-1113.91:1150:573:542:15331:16874 . 1/1:-2962.02,-347.949,0:1228:7:1202:34429:226 0/1:-993.581,0,-1173.68:1166:588:545:15574:17384 1/1:-1541.25,-182.971,0:711:11:681:18758:306 . 0/1:-1094.44,0,-1217.76:1275:630:613:17210:18484 0/1:-830.215,0,-1037.98:1012:519:458:12990:15521 0/1:-1081.5,0,-1114.8:1229:591:606:17055:17276 0/1:-612.745,0,-620.503:684:324:339:9491:9480 . . . 0/1:-1038.59,0,-1138.79:1213:598:580:16164:17359 0/1:-978.372,0,-744.873:945:407:509:14657:11763 0/1:-738.299,0,-959.867:948:504:415:11878:14552 . 0/1:-783.384,0,-726.868:831:393:404:11996:11191 . 0/1:-500.248,0,-462.02:532:245:272:7700:7214 0/1:-867.221,0,-1000.58:1031:517:488:13613:15145 1/1:-3341.29,-358.217,0:1442:27:1385:39742:772 . . 0/1:-905.364,0,-1041.06:1086:557:507:14270:15827 . . 0/1:-934.344,0,-915.781:903:437:450:13899:13665:437,450 0/1:-944.407,0,-991.893:937:464:456:14215:14480:464,456 . . 0/1:-952.54,0,-910.561:909:441:450:14094:13514:441,450 . . 0/1:-985.499,0,-1048.61:999:504:479:14822:15610:504,479 0/1:-829.379,0,-962.683:883:447:416:12577:13997:447,416 . . . . 0/1:-885.857,0,-1101.58:964:513:429:13476:16110:513,429 0/1:-805.001,0,-923.839:860:451:392:12152:13751:451,392 . . . 0/1:-993.223,0,-968.037:964:462:488:14841:14470:462,488 . chr6 152443744 . G T 2089.83 . AB=0.489607;ABP=3.41651;AC=16;AF=0.5;AN=32;AO=212;CIGAR=1X;DP=4997;DPB=433;DPRA=0;EPP=44.9648;EPPR=38.168;GTI=0;LEN=1;MEANALT=3;MQM=34.3491;MQMR=34.7628;NS=1;NUMALT=1;ODDS=650.828;PAIRED=0.976415;PAIREDR=0.897674;PAO=0;PQA=0;PQR=0;PRO=0;QA=5431;QR=5907;RO=215;RPL=145;RPP=65.3275;RPPR=79.4562;RPR=67;RUN=1;SAF=71;SAP=53.2;SAR=141;SF=0,1;SRF=73;SRP=51.0958;SRR=142;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon146:c.C26077A:p.L8693M,SYNE1:NM_182961:exon146:c.C26221A:p.L8741M;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.1041;esp6500siv2_ea=0.1398;esp6500siv2_all=0.1041;esp6500siv2_ea=0.1398;1000g2015aug_all=0.076877;avsnp147=rs2295190;Kaviar_AF=0.117728;Kaviar_AC=18201;Kaviar_AN=154602;ExAC_ALL=0.1182;ExAC_AFR=0.0285;ExAC_AMR=0.0429;ExAC_EAS=0.0595;ExAC_FIN=0.2017;ExAC_NFE=0.1516;ExAC_OTH=0.1222;ExAC_SAS=0.0891;CLNALLELEID=135882;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_pred=D;LRT_score=0.072;LRT_pred=N;MutationTaster_score=0.746;MutationTaster_pred=P;MutationAssessor_score=2.695;MutationAssessor_pred=M;FATHMM_score=1.75;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_pred=N;VEST3_score=0.342;CADD_raw=4.671;CADD_phred=24.5;DANN_score=0.995;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=0.627;phyloP7way_vertebrate=-0.021;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.386;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=8.702;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1157;gnomAD_exome_AFR=0.0278;gnomAD_exome_AMR=0.0427;gnomAD_exome_ASJ=0.1159;gnomAD_exome_EAS=0.0558;gnomAD_exome_FIN=0.1967;gnomAD_exome_NFE=0.1501;gnomAD_exome_OTH=0.1134;gnomAD_exome_SAS=0.0895;gnomAD_genome_ALL=0.1200;gnomAD_genome_AFR=0.0316;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.0556;gnomAD_genome_FIN=0.1899;gnomAD_genome_NFE=0.1644;gnomAD_genome_OTH=0.1497;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-305.534,0,-334.374:433:215:212:5431:5907 0/1:-256.217,0,-234.091:314:139:166:4452:4099 0/1:-159.418,0,-190.881:238:115:115:2800:3239 . . . 0/1:-267.526,0,-359.231:425:228:189:4707:6244 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-244.822,0,-237.766:329:151:171:4249:4316 . . 0/1:-193.947,0,-292.218:314:163:144:3748:4670 0/1:-182.372,0,-241.116:300:148:145:3529:4076 . . . . . . . 0/1:-333.642,0,-225.601:387:157:216:5663:4230 0/1:-100.594,0,-181.414:179:103:72:1834:2993 . 0/1:-221.731,0,-303.527:353:183:160:4218:5195 . . . . . . . . . . . . . . . 0/1:-244.62,0,-318.165:335:168:156:4208:4887 0/1:-100.136,0,-116.109:165:78:83:2013:2170 . . . . . . . . . . . . 0/1:-187.022,0,-206.956:268:131:132:3311:3623 . . . . . . . . . . . . 0/1:-230.777,0,-323.954:357:179:170:4084:5170 . . . 0/1:-361.089,0,-408.642:379:192:184:5487:6018:192,184 . . 0/1:-214.592,0,-195.367:221:103:112:3338:3049:103,112 . . . . . . . . . . . . . . . . chr6 152443753 . G A 2536.30 . AB=0.498099;ABP=3.01856;AC=2;AF=0.5;AN=4;AO=131;CIGAR=1X;DP=540;DPB=263;DPRA=0;EPP=4.35297;EPPR=6.38815;GTI=0;LEN=1;MEANALT=3;MQM=39.2901;MQMR=40.0556;NS=1;NUMALT=1;ODDS=570.257;PAIRED=0.992366;PAIREDR=0.944444;PAO=0;PQA=0;PQR=0;PRO=0;QA=4130;QR=4020;RO=126;RPL=104;RPP=101.29;RPPR=60.9852;RPR=27;RUN=1;SAF=34;SAP=68.8009;SAR=97;SF=1;SRF=36;SRP=53.2644;SRR=90;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon146:c.C26068T:p.R8690C,SYNE1:NM_182961:exon146:c.C26212T:p.R8738C;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000199681;avsnp147=rs144206837;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=266902;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.873;Polyphen2_HVAR_pred=P;LRT_score=0.073;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=2.48;MutationAssessor_pred=M;FATHMM_score=4.46;FATHMM_pred=T;PROVEAN_score=-5.08;PROVEAN_pred=D;VEST3_score=0.446;CADD_raw=5.591;CADD_phred=26.5;DANN_score=0.999;fathmm-MKL_coding_score=0.130;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.689;MetaSVM_pred=T;MetaLR_score=0.249;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.64;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.036;phastCons20way_mammalian=0.757;SiPhy_29way_logOdds=14.180;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0059;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.457e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-271.792,0,-271.57:263:126:131:4130:4020:126,131 . . . . 0/1:-284.731,0,-280.564:277:136:136:4231:4268:136,136 . . . . . . chr6 152443756 . C T 842.93 . AB=0.411765;ABP=15.6559;AC=1;AF=0.5;AN=2;AO=77;CIGAR=1X;DP=187;DPB=187;DPRA=0;EPP=7.77626;EPPR=3.37221;GTI=0;LEN=1;MEANALT=3;MQM=31.8312;MQMR=36.0104;NS=1;NUMALT=1;ODDS=194.092;PAIRED=0.974026;PAIREDR=0.90625;PAO=0;PQA=0;PQR=0;PRO=0;QA=2064;QR=2935;RO=96;RPL=56;RPP=37.5565;RPPR=46.8017;RPR=21;RUN=1;SAF=13;SAP=76.3609;SAR=64;SF=0;SRF=24;SRP=55.1256;SRR=72;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon146:c.G26065A:p.G8689S,SYNE1:NM_182961:exon146:c.G26209A:p.G8737S;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0014;1000g2015aug_all=0.033147;avsnp147=rs2295191;Kaviar_AF=0.0157307;Kaviar_AC=2432;Kaviar_AN=154602;ExAC_ALL=0.0176;ExAC_AFR=0.0012;ExAC_AMR=0.0007;ExAC_EAS=0.1036;ExAC_FIN=0.0588;ExAC_NFE=0.0031;ExAC_OTH=0.0165;ExAC_SAS=0.0369;CLNALLELEID=135881;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.966;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.875;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=4.69;FATHMM_pred=T;PROVEAN_score=-0.49;PROVEAN_pred=N;VEST3_score=0.094;CADD_raw=-0.740;CADD_phred=0.058;DANN_score=0.749;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.026;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-4.76;phyloP7way_vertebrate=-0.678;phyloP20way_mammalian=-0.372;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.071;SiPhy_29way_logOdds=0.613;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0185;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=0.1032;gnomAD_exome_FIN=0.0603;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0363;gnomAD_genome_ALL=0.0160;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.1012;gnomAD_genome_FIN=0.0676;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-102.97,0,-183.637:187:96:77:2064:2935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152443761 . C T,A 1636.78 . AB=0.47619;ABP=4.35454;AC=8,1;AF=0.5;AN=18;AO=130;CIGAR=1X;DP=2212;DPB=273;DPRA=0;EPP=4.68066;EPPR=5.41562;GTI=0;LEN=1;MEANALT=3;MQM=34.0462;MQMR=35.1385;NS=1;NUMALT=1;ODDS=426.309;PAIRED=0.961538;PAIREDR=0.969231;PAO=0;PQA=0;PQR=0;PRO=0;QA=3783;QR=3757;RO=130;RPL=89;RPP=41.4955;RPPR=44.7694;RPR=41;RUN=1;SAF=19;SAP=144.39;SAR=111;SF=0,1;SRF=31;SRP=80.2479;SRR=99;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon146:c.G26060A:p.R8687Q,SYNE1:NM_182961:exon146:c.G26204A:p.R8735Q;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0359;esp6500siv2_ea=0.0335;esp6500siv2_all=0.0359;esp6500siv2_ea=0.0335;1000g2015aug_all=0.0648962;avsnp147=rs2295192;Kaviar_AF=0.0480007;Kaviar_AC=7421;Kaviar_AN=154602;ExAC_ALL=0.0509;ExAC_AFR=0.0492;ExAC_AMR=0.0860;ExAC_EAS=0.0581;ExAC_FIN=0.0700;ExAC_NFE=0.0386;ExAC_OTH=0.0562;ExAC_SAS=0.0653;CLNALLELEID=135880;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.296;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.115;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=4.66;FATHMM_pred=T;PROVEAN_score=-1.61;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=1.625;CADD_phred=13.99;DANN_score=0.902;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.029;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=1.27;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.007;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=10.065;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0518;gnomAD_exome_AFR=0.0518;gnomAD_exome_AMR=0.0817;gnomAD_exome_ASJ=0.0444;gnomAD_exome_EAS=0.0569;gnomAD_exome_FIN=0.0726;gnomAD_exome_NFE=0.0350;gnomAD_exome_OTH=0.0494;gnomAD_exome_SAS=0.0647;gnomAD_genome_ALL=0.0495;gnomAD_genome_AFR=0.0481;gnomAD_genome_AMR=0.0716;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0.0544;gnomAD_genome_FIN=0.0656;gnomAD_genome_NFE=0.0438;gnomAD_genome_OTH=0.0652;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon146:c.G26060T:p.R8687L,SYNE1:NM_182961:exon146:c.G26204T:p.R8735L;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs2295192;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=7.419e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.139;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.085;Polyphen2_HVAR_pred=B;LRT_score=0.115;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=4.52;FATHMM_pred=T;PROVEAN_score=-3.94;PROVEAN_pred=D;VEST3_score=0.395;CADD_raw=2.009;CADD_phred=16.27;DANN_score=0.975;fathmm-MKL_coding_score=0.135;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.092;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=1.27;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.007;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=10.065;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.692e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.669e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-211.491,0,-214.199,.,.,.:273:130:130,.:3783,.:3757 . 0/2:-203.5,.,.,0,.,-188.287:243:120:.,121:.,3514:3474 . 0/1:-119.905,0,-342.779,.,.,.:285:182:88,.:2461,.:5579 . . . . . . . . . . . . . . . . . . . . . 0/1:-119.308,0,-172.449,.,.,.:172:90:74,.:2102,.:2768 . 0/1:-183.121,0,-139.245,.,.,.:202:83:108,.:3089,.:2505 . . . . . . . . . . . . . . . . . . . . 0/1:-200.056,0,-212.428,.,.,.:236:114:112,.:3287,.:3578 . . 0/1:-205.614,0,-227.876,.,.,.:284:144:133,.:3874,.:4008 . . . . . . . . . . 0/1:-215.494,0,-249.257,.,.,.:227:114:111,.:3378,.:3684:114,111 . . . . . . 0/1:-243.994,0,-318.554,.,.,.:290:154:129,.:3848,.:4666:154,129 . . . chr6 152453291 . G A 13254.80 . AB=0.466741;ABP=20.3436;AC=13;AF=0.5;AN=26;AO=842;CIGAR=1X;DP=21456;DPB=1804;DPRA=0;EPP=202.322;EPPR=151.696;GTI=0;LEN=1;MEANALT=3;MQM=36.3468;MQMR=36.9933;NS=1;NUMALT=1;ODDS=3151.7;PAIRED=0.940618;PAIREDR=0.950617;PAO=0;PQA=0;PQR=0;PRO=0;QA=23377;QR=26263;RO=891;RPL=439;RPP=6.35261;RPPR=21.4568;RPR=403;RUN=1;SAF=359;SAP=42.6642;SAR=483;SF=0,1;SRF=379;SRP=46.1205;SRR=512;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon144:c.C25916T:p.T8639I,SYNE1:NM_182961:exon144:c.C26060T:p.T8687I;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0544;esp6500siv2_ea=0.0745;esp6500siv2_all=0.0544;esp6500siv2_ea=0.0745;1000g2015aug_all=0.0257588;avsnp147=rs35591210;Kaviar_AF=0.0534857;Kaviar_AC=8269;Kaviar_AN=154602;ExAC_ALL=0.0513;ExAC_AFR=0.0125;ExAC_AMR=0.0319;ExAC_EAS=0.0002;ExAC_FIN=0.0640;ExAC_NFE=0.0739;ExAC_OTH=0.0419;ExAC_SAS=0.0204;CLNALLELEID=135879;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=0.388;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=4.68;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_pred=N;VEST3_score=0.128;CADD_raw=1.797;CADD_phred=14.97;DANN_score=0.988;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.62;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.954;phastCons20way_mammalian=0.965;SiPhy_29way_logOdds=2.870;GDI_full_10282015=.;dpsi_max_tissue=3.8126;dpsi_zscore=2.399;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0510;gnomAD_exome_AFR=0.0125;gnomAD_exome_AMR=0.0334;gnomAD_exome_ASJ=0.0454;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0582;gnomAD_exome_NFE=0.0769;gnomAD_exome_OTH=0.0499;gnomAD_exome_SAS=0.0207;gnomAD_genome_ALL=0.0506;gnomAD_genome_AFR=0.0135;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0584;gnomAD_genome_NFE=0.0768;gnomAD_genome_OTH=0.0542;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1402.06,0,-1636.75:1804:891:842:23377:26263 . . . . . . . 0/1:-1518.52,0,-1622.97:1808:865:880:24939:25889 . . . . . . . 0/1:-1544.45,0,-1774.19:1942:948:929:25395:28430 0/1:-1343.88,0,-1796.36:1826:933:835:22661:27759 0/1:-803.43,0,-943.891:1096:533:528:13986:15686 . . . . . 0/1:-768.658,0,-665.567:922:407:472:12730:11712 . . . . . . . . . . . 0/1:-1309.93,0,-1848.23:1827:969:800:22329:28697 0/1:-620.547,0,-791.73:986:490:451:11697:13699 . 0/1:-1483.85,0,-1663.26:1888:926:885:24557:26946 . . . . . 0/1:-1455.29,0,-1769.18:1932:959:913:25010:28370 . . . . . . . . . . 0/1:-1575.64,0,-1463.86:1738:808:875:24949:23678 . . . 0/1:-1909.14,0,-2051.27:1930:966:942:28715:30443:966,942 0/1:-1738.26,0,-1860.33:1757:871:859:26206:27566:871,859 . . . . . . . . . . . . . . . . . . chr6 152456276 . T G 6399.58 . AB=0.486002;ABP=4.53009;AC=2;AF=0.5;AN=4;AO=434;CIGAR=1X;DP=1376;DPB=893;DPRA=0;EPP=55.0656;EPPR=23.663;GTI=0;LEN=1;MEANALT=2;MQM=39.8525;MQMR=39.6572;NS=1;NUMALT=1;ODDS=1983.15;PAIRED=0.956221;PAIREDR=0.932314;PAO=0;PQA=0;PQR=0;PRO=0;QA=13624;QR=14249;RO=458;RPL=136;RPP=134.319;RPPR=104.074;RPR=298;RUN=1;SAF=290;SAP=109.663;SAR=144;SF=0;SRF=306;SRP=115.453;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon142:c.A25607C:p.D8536A,SYNE1:NM_182961:exon142:c.A25751C:p.D8584A;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000199681;avsnp147=rs41291047;Kaviar_AF=0.0005692;Kaviar_AC=88;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=9.61e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=191614;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|not_specified;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.853;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.64;MutationAssessor_pred=M;FATHMM_score=0.77;FATHMM_pred=T;PROVEAN_score=-7.16;PROVEAN_pred=D;VEST3_score=0.829;CADD_raw=6.670;CADD_phred=32;DANN_score=0.995;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.532;MetaSVM_pred=T;MetaLR_score=0.241;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.970;phastCons20way_mammalian=0.959;SiPhy_29way_logOdds=16.468;GDI_full_10282015=.;dpsi_max_tissue=-0.1101;dpsi_zscore=-0.479;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-898.75,0,-944.448:893:458:434:13624:14249 . . . . . . . 0/1:-449.594,0,-488.954:483:250:231:7139:7533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152457783 . G A 11569.20 . AB=0.432825;ABP=59.6069;AC=1;AF=0.5;AN=2;AO=625;CIGAR=1X;DP=1444;DPB=1444;DPRA=0;EPP=7.76669;EPPR=15.6533;GTI=0;LEN=1;MEANALT=3;MQM=39.7472;MQMR=40.3528;NS=1;NUMALT=1;ODDS=2663.9;PAIRED=0.9504;PAIREDR=0.963684;PAO=0;PQA=0;PQR=0;PRO=0;QA=18733;QR=25287;RO=771;RPL=216;RPP=132.427;RPPR=135.633;RPR=409;RUN=1;SAF=321;SAP=4.01439;SAR=304;SF=1;SRF=414;SRP=12.1609;SRR=357;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon141:c.C25485T:p.G8495G,SYNE1:NM_182961:exon141:c.C25629T:p.G8543G;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs201344762;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.894e-05;ExAC_AFR=9.848e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.072e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=368394;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2360;dpsi_zscore=-0.752;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.532e-05;gnomAD_exome_AFR=6.598e-05;gnomAD_exome_AMR=2.984e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.467e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.756e-05;gnomAD_genome_ALL=3.239e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1182.1,0,-1756.67:1444:771:625:18733:25287:771,625 . . . . . . . . . . chr6 152461140 . C T 7006.57 . AB=0.394379;ABP=109.889;AC=1;AF=0.5;AN=2;AO=435;CIGAR=1X;DP=1103;DPB=1103;DPRA=0;EPP=20.3871;EPPR=35.9043;GTI=0;LEN=1;MEANALT=3;MQM=37.1034;MQMR=36.4858;NS=1;NUMALT=1;ODDS=1613.32;PAIRED=0.908046;PAIREDR=0.911672;PAO=0;PQA=0;PQR=0;PRO=0;QA=12671;QR=18937;RO=634;RPL=222;RPP=3.41464;RPPR=28.3419;RPR=213;RUN=1;SAF=248;SAP=21.5851;SAR=187;SF=0;SRF=344;SRP=12.9977;SRR=290;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon140:c.G25259A:p.R8420H,SYNE1:NM_182961:exon140:c.G25403A:p.R8468H;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs143049227;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0002;ExAC_OTH=0.0022;ExAC_SAS=0.0002;CLNALLELEID=272886;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.245;SIFT_pred=T;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.008;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=0.74;FATHMM_pred=T;PROVEAN_score=-1.05;PROVEAN_pred=N;VEST3_score=0.162;CADD_raw=1.255;CADD_phred=12.04;DANN_score=0.745;fathmm-MKL_coding_score=0.109;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.991;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.61;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=-0.848;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.143;SiPhy_29way_logOdds=9.021;GDI_full_10282015=.;dpsi_max_tissue=-0.0532;dpsi_zscore=-0.279;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-720.245,0,-1213.12:1103:634:435:12671:18937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152462480 . C A 6328.00 . AB=0.498324;ABP=3.03214;AC=7;AF=0.5;AN=14;AO=446;CIGAR=1X;DP=5350;DPB=895;DPRA=0;EPP=40.7141;EPPR=9.43548;GTI=0;LEN=1;MEANALT=3;MQM=36.7825;MQMR=36.7831;NS=1;NUMALT=1;ODDS=1643;PAIRED=0.952915;PAIREDR=0.956621;PAO=0;PQA=0;PQR=0;PRO=0;QA=12182;QR=13234;RO=438;RPL=133;RPP=160.759;RPPR=62.9985;RPR=313;RUN=1;SAF=224;SAP=3.02978;SAR=222;SF=0,1;SRF=217;SRP=3.08962;SRR=221;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0097;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0097;1000g2015aug_all=0.00559105;avsnp147=rs139671151;Kaviar_AF=0.0074061;Kaviar_AC=1145;Kaviar_AN=154602;ExAC_ALL=0.0077;ExAC_AFR=0.0017;ExAC_AMR=0.0081;ExAC_EAS=0.0001;ExAC_FIN=0.0011;ExAC_NFE=0.0096;ExAC_OTH=0.0154;ExAC_SAS=0.0094;CLNALLELEID=252158;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0421;dpsi_zscore=-0.228;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0094;gnomAD_exome_ASJ=0.0248;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0091;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0096;gnomAD_genome_ALL=0.0045;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-741.385,0,-809.6:895:438:446:12182:13234 . . . . . . . . . . . . . . . . . . . . 0/1:-788.48,0,-829.747:882:428:447:12618:13114 0/1:-568.074,0,-598.035:673:323:342:9253:9532 . 0/1:-737.764,0,-790.724:845:411:419:11905:12624 . . . . . . . . . . . . . . . . . . . . 0/1:-634.111,0,-679.409:706:346:355:10115:10624 . . 0/1:-786.148,0,-865.447:942:466:467:12953:13847 . . . . . . . . . . . . . . . . . 0/1:-387.034,0,-444.056:407:214:191:5908:6572:214,191 . . . chr6 152464786 . G A 17482.50 . AB=0.521509;ABP=9.82926;AC=1;AF=0.5;AN=2;AO=885;CIGAR=1X;DP=1697;DPB=1697;DPRA=0;EPP=47.7279;EPPR=50.7827;GTI=0;LEN=1;MEANALT=3;MQM=40.1401;MQMR=39.4444;NS=1;NUMALT=1;ODDS=3517.8;PAIRED=0.951412;PAIREDR=0.936869;PAO=0;PQA=0;PQR=0;PRO=0;QA=26912;QR=24478;RO=792;RPL=211;RPP=528.995;RPPR=290.829;RPR=674;RUN=1;SAF=468;SAP=9.39222;SAR=417;SF=1;SRF=446;SRP=30.4279;SRR=346;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon138:c.C24947T:p.P8316L,SYNE1:NM_182961:exon138:c.C25091T:p.P8364L;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0034;1000g2015aug_all=0.000199681;avsnp147=rs148376885;Kaviar_AF=0.0018046;Kaviar_AC=279;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0002;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0039;ExAC_NFE=0.0027;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=265372;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.953;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.6;MutationAssessor_pred=M;FATHMM_score=4.53;FATHMM_pred=T;PROVEAN_score=-6.45;PROVEAN_pred=D;VEST3_score=0.546;CADD_raw=7.591;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.292;MetaSVM_pred=T;MetaLR_score=0.388;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=6.03;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.556;phastCons20way_mammalian=0.951;SiPhy_29way_logOdds=20.560;GDI_full_10282015=.;dpsi_max_tissue=-0.2860;dpsi_zscore=-0.832;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1818.16,0,-1574.38:1697:792:885:26912:24478:792,885 . . . . . . . . . . . . . chr6 152464839 . A G 20123.94 . AB=0.466456;ABP=15.393;AC=119;AF=0.5;AN=172;AO=591;CIGAR=1X;DP=123419;DPB=1267;DPRA=0;EPP=4.63064;EPPR=3.69237;GTI=0;LEN=1;MEANALT=3;MQM=36.2978;MQMR=38.1234;NS=1;NUMALT=1;ODDS=2259.37;PAIRED=0.923858;PAIREDR=0.916667;PAO=0;PQA=0;PQR=0;PRO=0;QA=17067;QR=17517;RO=624;RPL=452;RPP=362.971;RPPR=449.011;RPR=139;RUN=1;SAF=309;SAP=5.68882;SAR=282;SF=0,1;SRF=310;SRP=3.06598;SRR=314;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon138:c.T24894C:p.R8298R,SYNE1:NM_182961:exon138:c.T25038C:p.R8346R;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.6235;esp6500siv2_ea=0.5564;esp6500siv2_all=0.6235;esp6500siv2_ea=0.5564;1000g2015aug_all=0.689696;avsnp147=rs2256135;Kaviar_AF=0.602735;Kaviar_AC=93184;Kaviar_AN=154602;ExAC_ALL=0.6109;ExAC_AFR=0.7573;ExAC_AMR=0.7291;ExAC_EAS=0.7003;ExAC_FIN=0.4930;ExAC_NFE=0.5481;ExAC_OTH=0.6068;ExAC_SAS=0.6901;CLNALLELEID=135876;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1719;dpsi_zscore=-0.629;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6099;gnomAD_exome_AFR=0.7578;gnomAD_exome_AMR=0.7171;gnomAD_exome_ASJ=0.5684;gnomAD_exome_EAS=0.6932;gnomAD_exome_FIN=0.4852;gnomAD_exome_NFE=0.5516;gnomAD_exome_OTH=0.5855;gnomAD_exome_SAS=0.6921;gnomAD_genome_ALL=0.6144;gnomAD_genome_AFR=0.7548;gnomAD_genome_AMR=0.7069;gnomAD_genome_ASJ=0.5927;gnomAD_genome_EAS=0.6994;gnomAD_genome_FIN=0.4963;gnomAD_genome_NFE=0.5468;gnomAD_genome_OTH=0.6071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1027.08,0,-1104.65:1267:624:591:17067:17517 1/1:-3710.17,-434.797,0:1615:19:1563:45385:469 0/1:-1162.73,0,-1310:1400:727:633:18957:20715 0/1:-728.67,0,-711.397:854:414:414:11808:11525 . 0/1:-1567.06,0,-1786.64:1884:961:877:25820:27965 0/1:-945.26,0,-1196.79:1264:653:576:16237:18854 1/1:-3484.63,-355.548,0:1552:46:1483:43370:1280 . 1/1:-3355.07,-375.395,0:1499:31:1434:41185:829 . . 0/1:-1025.4,0,-1294.86:1316:696:587:17046:19940 . . 0/1:-1838.66,0,-1776.74:1970:967:953:28946:28424 1/1:-2639.97,-309.284,0:1137:11:1098:32184:295 0/1:-2475.64,0,-2467.77:2756:1355:1325:39279:39188 1/1:-3392.63,-409.731,0:1425:5:1385:40855:99 1/1:-2381.92,-304.267,0:1044:2:1017:29310:28 . 1/1:-3847.84,-467.197,0:1632:7:1589:46353:182 1/1:-1802.83,-217.555,0:809:11:783:22639:241 0/1:-1534.21,0,-1645.78:1811:897:848:24793:26019 1/1:-3609.98,-431.678,0:1531:7:1490:43464:214 0/1:-813.215,0,-977.905:1092:564:485:13801:15583 0/1:-1222.63,0,-1303.7:1414:717:656:19477:20449 1/1:-3584.34,-412.359,0:1501:15:1462:43619:376 0/1:-1076.5,0,-765.953:1124:456:620:17405:13178 . 0/1:-1118.16,0,-1130.81:1230:610:590:17463:17800 . 0/1:-1511.25,0,-1131.19:1497:666:793:23426:18788 1/1:-2860.71,-334.523,0:1240:14:1204:34715:387 0/1:-1297,0,-1274.51:1411:672:694:20569:19824 0/1:-1473.06,0,-1411.11:1627:792:783:23174:22647 0/1:-1391.36,0,-1631.71:1672:869:752:22316:25158 1/1:-3710.94,-446.42,0:1552:7:1513:44678:155 0/1:-1178.95,0,-1240.71:1448:719:691:19528:19960 0/1:-793.758,0,-740.056:878:419:433:12662:11981 1/1:-4140.49,-471.198,0:1764:19:1707:50664:549 0/1:-1131.65,0,-1103.31:1312:625:635:18105:17771 . 1/1:-3265.37,-383.928,0:1358:7:1324:39155:221 . 1/1:-3391.98,-394.795,0:1417:10:1380:41016:268 0/1:-1340.97,0,-1290.77:1502:723:736:21608:20921 0/1:-636.812,0,-677.747:745:377:349:10114:10800 0/1:-1039.73,0,-1199.76:1283:649:583:17102:18756 0/1:-1715.42,0,-1670.29:1876:911:907:27222:26203 . . 0/1:-1744.42,0,-1550.41:1883:886:951:27969:24959 . . 1/1:-2635.45,-320.5,0:1088:2:1073:31457:35 . 0/1:-661.596,0,-749.06:870:429:405:11212:12008 . . 0/1:-740.119,0,-724.764:919:439:442:12489:12404 0/1:-1594.26,0,-1536.32:1750:831:868:25800:24149 0/1:-1206.55,0,-1110.65:1256:603:623:18611:17345 . . . 1/1:-1732.06,-215.004,0:777:7:750:21369:197 1/1:-3262.86,-388.329,0:1338:2:1309:38969:72 1/1:-2640.97,-304.738,0:1140:13:1106:32098:363 0/1:-1461.97,0,-1136.03:1486:667:779:22990:18838 1/1:-3054.1,-365.773,0:1292:4:1252:36327:140 0/1:-1466.3,0,-1689.38:1762:909:806:23799:26349 0/1:-1276.2,0,-1521.2:1595:820:719:21017:23500 . . . 1/1:-3730.76,-449.191,0:1617:11:1570:45618:308 1/1:-3928.24,-466.393,0:1706:21:1649:48039:470 . 0/1:-659.381,0,-895.661:913:497:383:11111:13981 0/1:-1405.59,0,-1092.44:1476:651:776:22220:18384 . 0/1:-1355.35,0,-1343.36:1530:744:730:21569:21367 0/1:-1263.27,0,-1082.8:1340:627:679:19904:17802 1/1:-2432.31,-272.416,0:1075:21:1035:29889:623 . 1/1:-2652.91,-304.148,0:1124:12:1090:31821:325 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0/1:-1565.42,0,-1425.54:1472:696:746:23485:21448:696,746 1/1:-4037.3,-442.671,0:1495:1:1479:46589:32:1,1479 . 1/1:-4278.45,-464.207,0:1610:4:1579:50118:140:4,1579 0/1:-1972.56,0,-1929:1877:930:911:29281:28723:930,911 1/1:-3907.28,-425.107,0:1468:4:1431:45109:109:4,1431 0/1:-1620.72,0,-1485.5:1500:721:757:23885:22217:721,757 0/1:-1637.03,0,-1688.9:1654:827:795:24667:25317:827,795 chr6 152466674 . T C 15182.87 . AB=0.453394;ABP=23.8584;AC=83;AF=0.5;AN=128;AO=501;CIGAR=1X;DP=81320;DPB=1105;DPRA=0;EPP=27.3906;EPPR=48.239;GTI=0;LEN=1;MEANALT=3;MQM=36.5649;MQMR=38.9339;NS=1;NUMALT=1;ODDS=1784.67;PAIRED=0.936128;PAIREDR=0.951786;PAO=0;PQA=0;PQR=0;PRO=0;QA=13437;QR=16530;RO=560;RPL=266;RPP=7.17554;RPPR=66.5414;RPR=235;RUN=1;SAF=295;SAP=37.3421;SAR=206;SF=0,1;SRF=320;SRP=27.8271;SRR=240;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon137:c.A24780G:p.E8260E;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.3359;esp6500siv2_ea=0.3301;esp6500siv2_all=0.3359;esp6500siv2_ea=0.3301;1000g2015aug_all=0.366214;avsnp147=rs2747662;Kaviar_AF=0.342117;Kaviar_AC=52892;Kaviar_AN=154602;ExAC_ALL=0.3452;ExAC_AFR=0.3402;ExAC_AMR=0.5190;ExAC_EAS=0.2955;ExAC_FIN=0.2272;ExAC_NFE=0.3171;ExAC_OTH=0.3612;ExAC_SAS=0.4119;CLNALLELEID=135875;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8455;dpsi_zscore=-1.849;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3517;gnomAD_exome_AFR=0.3419;gnomAD_exome_AMR=0.5053;gnomAD_exome_ASJ=0.3992;gnomAD_exome_EAS=0.3009;gnomAD_exome_FIN=0.2171;gnomAD_exome_NFE=0.3201;gnomAD_exome_OTH=0.3610;gnomAD_exome_SAS=0.4126;gnomAD_genome_ALL=0.3146;gnomAD_genome_AFR=0.3364;gnomAD_genome_AMR=0.4928;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.2984;gnomAD_genome_FIN=0.2218;gnomAD_genome_NFE=0.3112;gnomAD_genome_OTH=0.3484;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 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0/1:-1120.41,0,-1310.72:1403:693:651:18358:20561 . . . 1/1:-2588.85,-311.55,0:1204:14:1137:31646:397 0/1:-1125.74,0,-1383.66:1453:733:670:18635:21734 . . . . 0/1:-1056.72,0,-1276.82:1383:687:636:17564:19882 . . . 0/1:-700.592,0,-925.425:986:508:434:11850:14525 0/1:-997.089,0,-1262.46:1346:682:607:16503:19750 0/1:-650.09,0,-532.564:703:309:365:10411:8755 0/1:-1033.51,0,-981.198:1211:555:610:16811:15929 . 1/1:-2451.34,-312.556,0:1112:4:1063:29513:104 . 0/1:-964.18,0,-1366.28:1364:710:603:16659:20782 1/1:-2889.7,-345.101,0:1333:16:1262:35640:449 . . . 0/1:-1367.01,0,-1459.19:1374:689:666:20584:21710:689,666 . 1/1:-2946.5,-325.254,0:1131:4:1111:34478:118:4,1111 0/1:-1415.75,0,-1524.76:1465:730:716:21675:22623:730,716 0/1:-1281.88,0,-1364.21:1274:638:623:19245:20146:638,623 . 0/1:-1205.57,0,-1307.12:1239:623:594:18482:19308:623,594 0/1:-1161.76,0,-1352.56:1239:635:582:17845:19947:635,582 0/1:-1183.93,0,-1497.76:1310:692:598:18329:21816:692,598 0/1:-1088.9,0,-1111.11:1066:535:518:16249:16616:535,518 . 1/1:-3054.82,-330.256,0:1170:7:1151:35615:208:7,1151 . 0/1:-1204.03,0,-1477.64:1309:686:598:18565:21734:686,598 0/1:-1284,0,-1521.6:1352:698:638:19642:22171:698,638 1/1:-2806.14,-322.402,0:1093:2:1074:32837:28:2,1074 0/1:-1122.71,0,-1152.1:1093:538:535:16771:16960:538,535 0/1:-1287.38,0,-1367.68:1303:647:633:19518:20505:647,633 chr6 152466728 . C G 12091.70 . AB=0.479856;ABP=7.90939;AC=1;AF=0.5;AN=2;AO=667;CIGAR=1X;DP=1390;DPB=1390;DPRA=0;EPP=57.1864;EPPR=53.8352;GTI=0;LEN=1;MEANALT=3;MQM=38.6027;MQMR=38.5871;NS=1;NUMALT=1;ODDS=2784.21;PAIRED=0.958021;PAIREDR=0.948571;PAO=0;PQA=0;PQR=0;PRO=0;QA=19438;QR=21222;RO=700;RPL=283;RPP=36.2205;RPPR=65.5611;RPR=384;RUN=1;SAF=256;SAP=81.2256;SAR=411;SF=0;SRF=279;SRP=65.5611;SRR=421;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.5321;dpsi_zscore=-2.050;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1234.19,0,-1369.1:1390:700:667:19438:21222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152469188 . C G 13438.64 . AB=0.466102;ABP=12.4323;AC=85;AF=0.5;AN=132;AO=440;CIGAR=1X;DP=74513;DPB=944;DPRA=0;EPP=37.8328;EPPR=27.9914;GTI=0;LEN=1;MEANALT=3;MQM=37.5773;MQMR=37.9349;NS=1;NUMALT=1;ODDS=1581.94;PAIRED=0.954545;PAIREDR=0.957983;PAO=0;PQA=0;PQR=0;PRO=0;QA=11669;QR=14277;RO=476;RPL=189;RPP=21.9811;RPPR=19.4332;RPR=251;RUN=1;SAF=191;SAP=19.6122;SAR=249;SF=0,1;SRF=201;SRP=27.9914;SRR=275;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon136:c.G24755C:p.G8252A,SYNE1:NM_182961:exon137:c.G24968C:p.G8323A;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.3736;esp6500siv2_ea=0.3373;esp6500siv2_all=0.3736;esp6500siv2_ea=0.3373;1000g2015aug_all=0.399361;avsnp147=rs2252755;Kaviar_AF=0.355202;Kaviar_AC=54915;Kaviar_AN=154602;ExAC_ALL=0.3592;ExAC_AFR=0.4441;ExAC_AMR=0.5248;ExAC_EAS=0.2989;ExAC_FIN=0.2275;ExAC_NFE=0.3230;ExAC_OTH=0.3711;ExAC_SAS=0.4191;CLNALLELEID=135874;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.696;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.338;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.900;MutationTaster_pred=P;MutationAssessor_score=0.12;MutationAssessor_pred=N;FATHMM_score=5.02;FATHMM_pred=T;PROVEAN_score=-0.03;PROVEAN_pred=N;VEST3_score=0.165;CADD_raw=0.755;CADD_phred=9.179;DANN_score=0.226;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.079;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.34;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.033;GDI_full_10282015=.;dpsi_max_tissue=-0.0091;dpsi_zscore=-0.031;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3635;gnomAD_exome_AFR=0.4442;gnomAD_exome_AMR=0.5123;gnomAD_exome_ASJ=0.4127;gnomAD_exome_EAS=0.3024;gnomAD_exome_FIN=0.2188;gnomAD_exome_NFE=0.3248;gnomAD_exome_OTH=0.3680;gnomAD_exome_SAS=0.4205;gnomAD_genome_ALL=0.3490;gnomAD_genome_AFR=0.4444;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.4272;gnomAD_genome_EAS=0.3043;gnomAD_genome_FIN=0.2255;gnomAD_genome_NFE=0.3163;gnomAD_genome_OTH=0.3582;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-701.529,0,-918.206:944:476:440:11669:14277 0/1:-1156.05,0,-1345.62:1422:714:672:19058:21256 . . . 0/1:-996.276,0,-1380.56:1346:712:599:16921:21343 0/1:-782.839,0,-883.371:959:471:459:12901:13973 0/1:-868.396,0,-1262.43:1212:633:545:14826:19202 . 1/1:-2697.4,-273.551,0:1298:50:1206:33683:1222 . . 0/1:-769.9,0,-1031.1:1013:528:469:12741:15811 . . 0/1:-1226.77,0,-1512.43:1544:792:715:20138:23686 1/1:-1763.7,-213.902,0:859:22:807:22142:454 0/1:-1852.05,0,-2081.33:2175:1082:1035:29669:32223 1/1:-2239.54,-269.706,0:1037:18:991:27381:406 0/1:-553.785,0,-702.85:734:380:335:9314:11161 . 1/1:-2814.31,-325.8,0:1300:31:1231:34416:656 1/1:-1424.79,-173.839,0:687:15:643:17717:298 0/1:-961.554,0,-1211.62:1231:629:565:15957:18844 1/1:-2617.78,-317.408,0:1231:22:1163:31956:474 0/1:-713.442,0,-959.972:944:506:420:11806:15110 . 1/1:-2585.07,-313.26,0:1166:19:1117:31155:354 0/1:-682.042,0,-834.447:892:448:412:11289:13330 . 0/1:-795.869,0,-873.777:958:463:457:12698:13621 . 0/1:-789.544,0,-1193.08:1155:623:505:13458:18290 1/1:-2129.94,-245.589,0:961:22:908:25871:413 0/1:-946.465,0,-1253.68:1225:639:555:15477:19338 0/1:-930.847,0,-1350.89:1338:708:587:15947:20942 0/1:-1040.74,0,-1208.01:1238:624:589:16802:18538 0/1:-978.116,0,-1097.11:1167:566:560:15754:17152 . 0/1:-565.289,0,-725.133:731:375:340:9298:11144 1/1:-2798.81,-338.007,0:1282:23:1220:33726:427 0/1:-820.844,0,-1007.14:1043:530:484:13323:15625 . 1/1:-2305.67,-284.434,0:1069:18:1018:28312:330 . 1/1:-2362.39,-286.32,0:1090:20:1034:28657:377 0/1:-925.077,0,-1057.58:1100:554:521:15070:16560 . . . . . 0/1:-1058.96,0,-1423.29:1382:727:617:17375:21854 . . 1/1:-1738.72,-202.386,0:776:16:740:20981:299 . . . . . 0/1:-1146.47,0,-1397.47:1480:745:693:18790:22023 . . . . 0/1:-533.57,0,-507.24:650:303:324:8734:8645 0/1:-828.631,0,-1155.39:1093:587:481:13869:17568 0/1:-677.439,0,-889.02:898:462:411:11289:13872 . 1/1:-2092.57,-245.771,0:1011:30:945:26027:636 0/1:-1063.84,0,-1394.44:1365:714:618:17463:21376 0/1:-1048.54,0,-1326.28:1321:675:614:17041:20486 . . . 1/1:-2505.01,-302.882,0:1164:23:1113:30649:470 0/1:-1210.74,0,-1217.48:1395:659:703:19371:19483 . . . . 0/1:-997.373,0,-1125.52:1194:594:575:15931:17790 . 0/1:-723.778,0,-783.495:876:425:416:11688:12444 . 0/1:-492.008,0,-881.619:766:432:312:8490:12982 0/1:-825.66,0,-1191.51:1140:613:493:14078:18500 0/1:-478.184,0,-512.424:568:275:277:7782:8231 0/1:-847.779,0,-1038.08:1083:537:515:14067:16131 . 1/1:-1972.92,-230.924,0:946:24:887:24333:554 . 0/1:-873.917,0,-1108.97:1147:578:536:14783:17333 1/1:-2615.51,-292.031,0:1215:36:1142:31755:735 . . . 0/1:-1506.4,0,-1472.11:1447:692:738:22409:21858:692,738 . 1/1:-2782.84,-303.551,0:1055:4:1037:32122:118:4,1037 0/1:-1527.36,0,-1324.78:1396:636:737:22642:20241:636,737 0/1:-1102.5,0,-1419.12:1208:645:553:16959:20651:645,553 . 0/1:-1181.72,0,-1232.34:1145:564:561:17536:18204:564,561 0/1:-1146.82,0,-1320.12:1194:610:571:17358:19481:610,571 0/1:-1292.27,0,-1436.64:1304:659:623:19460:21184:659,623 0/1:-918.81,0,-1165.54:985:517:456:14059:16872:517,456 . 1/1:-2912.5,-323.846,0:1143:6:1119:34001:168:6,1119 . 0/1:-1156.18,0,-1296.03:1194:594:577:17616:19139:594,577 0/1:-1320.04,0,-1432.46:1317:669:630:19674:21075:669,630 1/1:-2684.19,-273.093,0:1032:14:1002:31515:378:14,1002 0/1:-1059.34,0,-1305.17:1116:585:514:16055:18850:585,514 0/1:-1158.14,0,-1256.44:1156:583:561:17376:18438:583,561 chr6 152469331 . C T 9186.80 . AB=0.42205;ABP=64.2847;AC=63;AF=0.5;AN=106;AO=490;CIGAR=1X;DP=49590;DPB=1161;DPRA=0;EPP=16.9077;EPPR=31.0181;GTI=0;LEN=1;MEANALT=3;MQM=35.3551;MQMR=36.5334;NS=1;NUMALT=1;ODDS=1705.46;PAIRED=0.946939;PAIREDR=0.914013;PAO=0;PQA=0;PQR=0;PRO=0;QA=13596;QR=19472;RO=628;RPL=285;RPP=31.3724;RPPR=10.3269;RPR=205;RUN=1;SAF=230;SAP=6.99872;SAR=260;SF=0,1;SRF=304;SRP=4.3934;SRR=324;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon136:c.G24612A:p.P8204P,SYNE1:NM_182961:exon137:c.G24825A:p.P8275P;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.3009;esp6500siv2_ea=0.2944;esp6500siv2_all=0.3009;esp6500siv2_ea=0.2944;1000g2015aug_all=0.339457;avsnp147=rs2252748;Kaviar_AF=0.309795;Kaviar_AC=47895;Kaviar_AN=154602;ExAC_ALL=0.3130;ExAC_AFR=0.3071;ExAC_AMR=0.4892;ExAC_EAS=0.2942;ExAC_FIN=0.1824;ExAC_NFE=0.2768;ExAC_OTH=0.3223;ExAC_SAS=0.4011;CLNALLELEID=135873;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0307;dpsi_zscore=-0.169;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3194;gnomAD_exome_AFR=0.3093;gnomAD_exome_AMR=0.4752;gnomAD_exome_ASJ=0.3390;gnomAD_exome_EAS=0.3008;gnomAD_exome_FIN=0.1768;gnomAD_exome_NFE=0.2810;gnomAD_exome_OTH=0.3178;gnomAD_exome_SAS=0.4012;gnomAD_genome_ALL=0.2826;gnomAD_genome_AFR=0.3034;gnomAD_genome_AMR=0.4450;gnomAD_genome_ASJ=0.3533;gnomAD_genome_EAS=0.3041;gnomAD_genome_FIN=0.1874;gnomAD_genome_NFE=0.2778;gnomAD_genome_OTH=0.3149;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-756.962,0,-1241.72:1161:628:490:13596:19472 . . . 0/1:-821.619,0,-1069.33:1092:557:496:14115:17504 0/1:-531.821,0,-768.034:773:411:329:9150:12436 0/1:-723.813,0,-1119.45:1097:577:474:13005:18102 . 1/1:-1841.04,-205.964,0:942:30:858:23540:794 . . 0/1:-645.811,0,-951.13:887:472:386:10841:14857 . . 0/1:-890.224,0,-1196.12:1218:621:562:15633:19269 1/1:-1293.94,-165.911,0:669:14:615:16629:330 0/1:-1426.08,0,-1801.97:1892:944:887:23940:29632 1/1:-1574.72,-192.673,0:766:13:712:19726:301 . . 1/1:-2065.41,-267.82,0:1004:10:947:25795:257 . 0/1:-740.748,0,-1144.43:1073:580:469:13183:17888 0/1:-736.902,0,-1050.54:1063:548:471:12841:16831 . . 1/1:-1914.51,-208.534,0:953:31:870:24405:795 0/1:-581.581,0,-700.219:794:386:385:10252:11799 . 0/1:-608.67,0,-700.318:761:367:371:10074:11468 . . 1/1:-1926.89,-219.526,0:967:28:881:24397:716 0/1:-637.391,0,-846.567:859:435:393:10921:13548 0/1:-734.868,0,-1088.59:1097:579:479:13178:17899 0/1:-833.561,0,-1103.59:1156:586:530:14209:18059 0/1:-586.905,0,-730.061:750:368:356:9803:11583 . 0/1:-481.287,0,-649.581:641:327:297:8408:10250 0/1:-835.178,0,-1023.67:1057:526:498:14254:16555 0/1:-619.578,0,-946.062:927:477:407:10940:14986 . 0/1:-638.621,0,-824.8:881:440:403:11131:13494 . 0/1:-789.919,0,-992.038:1068:532:499:13537:16338 0/1:-737.095,0,-919.574:993:490:462:12742:15034 . . . . . 0/1:-905.717,0,-1129.97:1152:579:548:15127:18503 . . 1/1:-1417.45,-173.05,0:688:9:633:17814:276 . . . . . 0/1:-976.561,0,-1147.16:1222:605:575:16306:18886 . . . . . 0/1:-750.841,0,-856.242:960:463:460:12489:14206 0/1:-619.033,0,-845.832:891:466:383:10741:13746 . 0/1:-722.856,0,-907.284:970:492:437:12389:15286 0/1:-869.564,0,-1301.21:1205:638:524:14974:20044 . . . . 1/1:-2123.62,-269.543,0:1020:13:954:26413:296 . . . . . 0/1:-851.875,0,-1006.86:1093:529:525:14407:16415 . . . 0/1:-448.27,0,-659.537:644:340:279:7770:10597 0/1:-646.892,0,-994.842:954:519:409:11419:15830 0/1:-401.221,0,-451.789:492:239:236:6705:7392 . . 1/1:-1688.43,-197.756,0:821:16:747:21362:422 . 0/1:-814.783,0,-998.016:1055:517:501:13739:16240 0/1:-829.771,0,-1007.28:1076:533:486:13931:16200 . . . 0/1:-874.008,0,-887.489:890:416:452:13194:13350:416,452 . . 0/1:-846.34,0,-955.369:919:451:452:13023:14455:451,452 0/1:-721.936,0,-882.067:804:409:380:11137:12987:409,380 . 0/1:-694.221,0,-864.533:784:409:365:10786:12781:409,365 0/1:-650.766,0,-786.862:749:381:352:9967:11717:381,352 0/1:-818.4,0,-943.545:897:446:429:12534:14006:446,429 . . 1/1:-1726.64,-177.203,0:720:14:686:20346:391:14,686 . 0/1:-779.303,0,-834.324:812:391:403:11877:12473:391,403 0/1:-790.752,0,-855.361:839:409:404:11992:12892:409,404 0/1:-608.968,0,-678.199:640:316:312:9160:10150:316,312 0/1:-626.437,0,-838.593:752:391:344:9821:12289:391,344 . chr6 152470752 . C A 10814.47 . AB=0.458159;ABP=17.5474;AC=30;AF=0.5;AN=52;AO=438;CIGAR=1X;DP=26310;DPB=956;DPRA=0;EPP=19.688;EPPR=25.7057;GTI=0;LEN=1;MEANALT=3;MQM=37.847;MQMR=38.3952;NS=1;NUMALT=1;ODDS=1743.53;PAIRED=0.949772;PAIREDR=0.951613;PAO=0;PQA=0;PQR=0;PRO=0;QA=12712;QR=15035;RO=496;RPL=286;RPP=92.0308;RPPR=72.5149;RPR=152;RUN=1;SAF=204;SAP=7.47223;SAR=234;SF=0,1;SRF=227;SRP=10.733;SRR=269;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon135:c.G24289T:p.A8097S,SYNE1:NM_182961:exon136:c.G24502T:p.A8168S;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.1330;esp6500siv2_ea=0.0548;esp6500siv2_all=0.1330;esp6500siv2_ea=0.0548;1000g2015aug_all=0.115615;avsnp147=rs17082236;Kaviar_AF=0.0668038;Kaviar_AC=10328;Kaviar_AN=154602;ExAC_ALL=0.0677;ExAC_AFR=0.2923;ExAC_AMR=0.0533;ExAC_EAS=0.0005;ExAC_FIN=0.0449;ExAC_NFE=0.0561;ExAC_OTH=0.0694;ExAC_SAS=0.0279;CLNALLELEID=135872;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.437;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.63;FATHMM_pred=T;PROVEAN_score=-1.38;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=2.796;CADD_phred=21.3;DANN_score=0.990;fathmm-MKL_coding_score=0.894;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.027;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.96;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.982;GDI_full_10282015=.;dpsi_max_tissue=-0.1115;dpsi_zscore=-0.483;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0637;gnomAD_exome_AFR=0.2986;gnomAD_exome_AMR=0.0558;gnomAD_exome_ASJ=0.1069;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0421;gnomAD_exome_NFE=0.0534;gnomAD_exome_OTH=0.0689;gnomAD_exome_SAS=0.0294;gnomAD_genome_ALL=0.1135;gnomAD_genome_AFR=0.2937;gnomAD_genome_AMR=0.0835;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0381;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0541;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-776.267,0,-970.092:956:496:438:12712:15035 . . . . . . . . . . . . . . . . . . 0/1:-703.085,0,-608.121:720:322:385:10939:10034 . . 1/1:-1397.64,-175.55,0:618:3:593:16765:67 . 0/1:-846.335,0,-1105.85:1064:561:484:13854:16971 0/1:-754.654,0,-797.634:889:426:442:12378:12774 . . . . . . 0/1:-1063.68,0,-1017.32:1112:523:569:16647:16110 . . . . . . . 0/1:-1008.22,0,-1359.74:1274:678:568:16451:20757 . . 0/1:-856.706,0,-1110.68:1089:560:501:14171:16990 . 0/1:-968.526,0,-1032.84:1102:539:538:15543:16227 0/1:-982.137,0,-1058.78:1143:559:558:15905:17089 . . . . . . . . . . . . . . . . . . . 0/1:-551.896,0,-491.241:580:261:305:8737:7992 0/1:-1105.72,0,-1073.61:1195:555:607:17401:16907 0/1:-623.334,0,-761.999:758:394:347:10069:11833 . 1/1:-2301.3,-256.861,0:1002:18:955:28009:469 . . . . . . 0/1:-1154.34,0,-1234.7:1297:627:645:18289:19406 . . . . . . 0/1:-752.502,0,-794.058:841:410:417:12084:12520 . . . . 0/1:-835.428,0,-977.586:1011:494:493:13649:15189 . 0/1:-799.97,0,-877.013:909:438:446:12921:13549 . . 1/1:-2669.66,-305.419,0:1181:19:1131:32609:464 . . . . . 1/1:-2778.75,-292.415,0:1082:13:1053:32824:353:13,1053 . . . 0/1:-1093.64,0,-1282.13:1142:600:530:16629:18756:600,530 . . 0/1:-984.842,0,-863.081:891:413:470:14551:13042:413,470 . 0/1:-1214.37,0,-1014.46:1093:500:584:17953:15501:500,584 . . 0/1:-1186.42,0,-1252.47:1199:601:586:18211:18787:601,586 0/1:-1068.07,0,-1107.89:1043:513:519:16102:16434:513,519 . 0/1:-1052.38,0,-1222.06:1119:576:531:16167:18005:576,531 chr6 152473181 . T C 12829.87 . AB=0.463884;ABP=17.1266;AC=22;AF=0.5;AN=40;AO=578;CIGAR=1X;DP=27740;DPB=1246;DPRA=0;EPP=4.51305;EPPR=61.0766;GTI=0;LEN=1;MEANALT=3;MQM=37.1211;MQMR=37.1028;NS=1;NUMALT=1;ODDS=2289.37;PAIRED=0.960208;PAIREDR=0.949367;PAO=0;PQA=0;PQR=0;PRO=0;QA=16358;QR=18348;RO=632;RPL=317;RPP=14.7919;RPPR=5.33295;RPR=261;RUN=1;SAF=280;SAP=4.22753;SAR=298;SF=0,1;SRF=318;SRP=3.06527;SRR=314;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon133:c.A24012G:p.A8004A,SYNE1:NM_182961:exon134:c.A24225G:p.A8075A;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0495;esp6500siv2_ea=0.0441;esp6500siv2_all=0.0495;esp6500siv2_ea=0.0441;1000g2015aug_all=0.0365415;avsnp147=rs910415;Kaviar_AF=0.039799;Kaviar_AC=6153;Kaviar_AN=154602;ExAC_ALL=0.0397;ExAC_AFR=0.0621;ExAC_AMR=0.0329;ExAC_EAS=0.0010;ExAC_FIN=0.0468;ExAC_NFE=0.0470;ExAC_OTH=0.0474;ExAC_SAS=0.0179;CLNALLELEID=135871;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7422;dpsi_zscore=1.880;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0394;gnomAD_exome_AFR=0.0616;gnomAD_exome_AMR=0.0340;gnomAD_exome_ASJ=0.0873;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0433;gnomAD_exome_NFE=0.0439;gnomAD_exome_OTH=0.0512;gnomAD_exome_SAS=0.0196;gnomAD_genome_ALL=0.0440;gnomAD_genome_AFR=0.0620;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0384;gnomAD_genome_NFE=0.0386;gnomAD_genome_OTH=0.0397;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1003.61,0,-1138.28:1246:632:578:16358:18348 . . . . . . . . . . . . . . . . . . 0/1:-823.171,0,-871.597:995:476:476:13662:14324 . . 1/1:-1874.76,-215.786,0:901:20:850:23722:588 . 0/1:-1292.88,0,-1419.03:1568:769:744:21265:22546 0/1:-772.058,0,-928.111:1054:522:495:13477:15152 . . . . . . 0/1:-1152.71,0,-1647.2:1634:857:708:19732:25358 . . . . . . . 0/1:-1446,0,-1804.18:1825:949:830:23845:27893 . . 0/1:-1002.46,0,-1432.02:1363:731:583:16862:22068 . 0/1:-1287,0,-1143.51:1408:632:734:20890:18795 . . . . . . . . . . . . . . . . . . . . 0/1:-509.887,0,-845.399:828:444:348:9329:13245 . . . 0/1:-1323.92,0,-1415.9:1597:761:782:21599:22624 . 0/1:-1411.5,0,-1463.32:1690:811:825:23068:23525 . . . . 0/1:-1350.83,0,-1526.2:1694:844:802:22526:24609 . . . . . . 0/1:-1000.71,0,-1154.58:1267:630:585:16552:18547 . . . . 0/1:-980.177,0,-1443.79:1398:761:589:16722:22566 . . . . 0/1:-1365.36,0,-1416.14:1617:779:781:21950:23191 . . . . . 1/1:-3520.98,-348.811,0:1395:24:1348:41486:729:24,1348 . . . . . . 0/1:-1244.39,0,-1325.41:1252:630:603:18644:19457:630,603 . . . . . 0/1:-1430.48,0,-1486.91:1433:714:696:21471:22207:714,696 . 0/1:-1545.95,0,-1666.97:1575:801:747:23270:24817:801,747 chr6 152477054 . C T 7877.44 . AB=0.474409;ABP=8.78949;AC=1;AF=0.5;AN=2;AO=482;CIGAR=1X;DP=1016;DPB=1016;DPRA=0;EPP=67.8842;EPPR=32.6326;GTI=0;LEN=1;MEANALT=3;MQM=36.6992;MQMR=36.6455;NS=1;NUMALT=1;ODDS=1813.85;PAIRED=0.948133;PAIREDR=0.936634;PAO=0;PQA=0;PQR=0;PRO=0;QA=13218;QR=15141;RO=505;RPL=271;RPP=19.2288;RPPR=13.3345;RPR=211;RUN=1;SAF=236;SAP=3.46081;SAR=246;SF=0;SRF=250;SRP=3.1178;SRR=255;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon131:c.G23756A:p.R7919K,SYNE1:NM_182961:exon132:c.G23969A:p.R7990K;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777371816;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.238e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=440944;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.415;MutationAssessor_pred=M;FATHMM_score=-1.57;FATHMM_pred=D;PROVEAN_score=-2.85;PROVEAN_pred=D;VEST3_score=0.896;CADD_raw=7.558;CADD_phred=34;DANN_score=0.997;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=0.389;MetaSVM_pred=D;MetaLR_score=0.704;MetaLR_pred=D;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.56;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.890;GDI_full_10282015=.;dpsi_max_tissue=0.0452;dpsi_zscore=0.276;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.031e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.583e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-803.985,0,-932.341:1016:505:482:13218:15141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152501416 . C T 9085.18 . AB=0.503831;ABP=3.14342;AC=2;AF=0.5;AN=4;AO=526;CIGAR=1X;DP=1753;DPB=1044;DPRA=0;EPP=51.1625;EPPR=75.7175;GTI=0;LEN=1;MEANALT=3;MQM=39.6939;MQMR=40.505;NS=1;NUMALT=1;ODDS=2226.43;PAIRED=0.979087;PAIREDR=0.985915;PAO=0;PQA=0;PQR=0;PRO=0;QA=16064;QR=15074;RO=497;RPL=343;RPP=108.694;RPPR=80.2964;RPR=183;RUN=1;SAF=188;SAP=95.8965;SAR=338;SF=0;SRF=172;SRP=105.288;SRR=325;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon128:c.G23102A:p.R7701Q,SYNE1:NM_182961:exon129:c.G23315A:p.R7772Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0055;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0055;1000g2015aug_all=0.00119808;avsnp147=rs138787771;Kaviar_AF=0.0042043;Kaviar_AC=650;Kaviar_AN=154602;ExAC_ALL=0.0037;ExAC_AFR=0.0021;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0014;ExAC_NFE=0.0060;ExAC_OTH=0.0033;ExAC_SAS=0.0006;CLNALLELEID=191310;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.027;SIFT_pred=D;Polyphen2_HDIV_score=0.974;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.392;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.635;MutationAssessor_pred=M;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_pred=N;VEST3_score=0.236;CADD_raw=4.749;CADD_phred=24.7;DANN_score=0.999;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.049;MetaSVM_pred=T;MetaLR_score=0.064;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.29;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.964;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=11.585;GDI_full_10282015=.;dpsi_max_tissue=-0.6754;dpsi_zscore=-1.249;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0063;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0060;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1067.41,0,-1000.57:1044:497:526:16064:15074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-808.669,0,-575.508:709:303:390:11890:9158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152510429 . G A 6184.34 . AB=0.499192;ABP=3.01381;AC=3;AF=0.5;AN=6;AO=309;CIGAR=1X;DP=2019;DPB=619;DPRA=0;EPP=19.8831;EPPR=32.4252;GTI=0;LEN=1;MEANALT=3;MQM=39.2201;MQMR=40.7543;NS=1;NUMALT=1;ODDS=1331.1;PAIRED=0.954693;PAIREDR=0.969283;PAO=0;PQA=0;PQR=0;PRO=0;QA=9432;QR=9120;RO=293;RPL=232;RPP=171.844;RPPR=190.372;RPR=77;RUN=1;SAF=141;SAP=8.13329;SAR=168;SF=0;SRF=128;SRP=13.1562;SRR=165;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon127:c.C23046T:p.R7682R,SYNE1:NM_182961:exon128:c.C23259T:p.R7753R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00119808;avsnp147=rs139590550;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0002;ExAC_AMR=0.0022;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0022;ExAC_OTH=0.0022;ExAC_SAS=0.0017;CLNALLELEID=266935;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3249;dpsi_zscore=-0.889;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0058;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-617.283,0,-609.343:619:293:309:9432:9120 . . . . . . . . . . . . . . 0/1:-456.679,0,-555.81:533:272:247:7184:8288 . . . . . . 0/1:-875.298,0,-869.417:867:419:435:13154:13085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152523087 . A G 4341.84 . AB=0.453353;ABP=15.9758;AC=1;AF=0.5;AN=2;AO=311;CIGAR=1X;DP=686;DPB=686;DPRA=0;EPP=98.59;EPPR=115.701;GTI=0;LEN=1;MEANALT=3;MQM=36.9132;MQMR=38.7688;NS=1;NUMALT=1;ODDS=999.745;PAIRED=0.951768;PAIREDR=0.950867;PAO=0;PQA=0;PQR=0;PRO=0;QA=7920;QR=10509;RO=346;RPL=181;RPP=21.1711;RPPR=15.1605;RPR=130;RUN=1;SAF=106;SAP=71.4431;SAR=205;SF=0;SRF=145;SRP=22.6916;SRR=201;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.3552;dpsi_zscore=2.307;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-460.653,0,-686.725:686:346:311:7920:10509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152529122 . G A 5571.66 . AB=0.4944;ABP=3.18054;AC=3;AF=0.5;AN=6;AO=309;CIGAR=1X;DP=1953;DPB=625;DPRA=0;EPP=7.40244;EPPR=4.429;GTI=0;LEN=1;MEANALT=3;MQM=37.9515;MQMR=38.36;NS=1;NUMALT=1;ODDS=1222.97;PAIRED=0.951456;PAIREDR=0.94;PAO=0;PQA=0;PQR=0;PRO=0;QA=8817;QR=9459;RO=300;RPL=107;RPP=66.4328;RPPR=17.0235;RPR=202;RUN=1;SAF=186;SAP=30.9021;SAR=123;SF=0,1;SRF=175;SRP=21.1059;SRR=125;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon124:c.C22596T:p.L7532L,SYNE1:NM_182961:exon125:c.C22809T:p.L7603L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0177;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0177;1000g2015aug_all=0.00339457;avsnp147=rs34630198;Kaviar_AF=0.0117851;Kaviar_AC=1822;Kaviar_AN=154602;ExAC_ALL=0.0116;ExAC_AFR=0.0029;ExAC_AMR=0.0031;ExAC_EAS=0;ExAC_FIN=0.0242;ExAC_NFE=0.0170;ExAC_OTH=0.0121;ExAC_SAS=0.0024;CLNALLELEID=135870;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1183;dpsi_zscore=0.537;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0115;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0.0101;gnomAD_exome_EAS=5.808e-05;gnomAD_exome_FIN=0.0195;gnomAD_exome_NFE=0.0177;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0133;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0215;gnomAD_genome_NFE=0.0191;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-548.341,0,-613.256:625:300:309:8817:9459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-681.632,0,-788.334:808:391:381:11233:12279 . . . . . . . . . . . . . . . . . . . 0/1:-396.164,0,-688.211:520:303:213:6426:9902:303,213 . . . . . . . . . . . chr6 152529260 . G A 14048.40 . AB=0.480263;ABP=7.12467;AC=51;AF=0.5;AN=90;AO=584;CIGAR=1X;DP=55732;DPB=1216;DPRA=0;EPP=6.35675;EPPR=6.71628;GTI=0;LEN=1;MEANALT=3;MQM=38.6062;MQMR=38.5733;NS=1;NUMALT=1;ODDS=2492.29;PAIRED=0.940068;PAIREDR=0.938333;PAO=0;PQA=0;PQR=0;PRO=0;QA=17263;QR=18348;RO=600;RPL=367;RPP=86.6715;RPPR=117.679;RPR=217;RUN=1;SAF=320;SAP=14.6708;SAR=264;SF=0,1;SRF=341;SRP=27.3453;SRR=259;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1289;esp6500siv2_ea=0.1341;esp6500siv2_all=0.1289;esp6500siv2_ea=0.1341;1000g2015aug_all=0.155152;avsnp147=rs3798756;Kaviar_AF=0.140451;Kaviar_AC=21714;Kaviar_AN=154602;ExAC_ALL=0.1437;ExAC_AFR=0.1175;ExAC_AMR=0.2089;ExAC_EAS=0.2283;ExAC_FIN=0.0878;ExAC_NFE=0.1315;ExAC_OTH=0.1421;ExAC_SAS=0.1419;CLNALLELEID=135869;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0311;dpsi_zscore=0.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1449;gnomAD_exome_AFR=0.1184;gnomAD_exome_AMR=0.2012;gnomAD_exome_ASJ=0.1380;gnomAD_exome_EAS=0.2208;gnomAD_exome_FIN=0.0854;gnomAD_exome_NFE=0.1321;gnomAD_exome_OTH=0.1474;gnomAD_exome_SAS=0.1456;gnomAD_genome_ALL=0.1236;gnomAD_genome_AFR=0.1189;gnomAD_genome_AMR=0.1981;gnomAD_genome_ASJ=0.13;gnomAD_genome_EAS=0.2162;gnomAD_genome_FIN=0.0860;gnomAD_genome_NFE=0.1210;gnomAD_genome_OTH=0.1217;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1100.46,0,-1188.09:1216:600:584:17263:18348 1/1:-1976.55,-221.642,0:812:6:787:23926:207 0/1:-1252.88,0,-1226.58:1322:630:663:19654:19511 . 0/1:-1073.12,0,-1099.02:1150:550:570:17205:17044 . 0/1:-1022.79,0,-1230.28:1179:599:554:16372:18671 . . 0/1:-1216.06,0,-1143.15:1233:579:629:18993:17842 . 0/1:-843.154,0,-988.393:991:498:467:13739:15453 . . 0/1:-845.316,0,-920.371:961:468:470:13764:14336 . . . . 0/1:-1356.61,0,-1636.1:1564:811:725:21864:24756 0/1:-543.884,0,-683.77:691:352:319:9111:10830 1/1:-3969.96,-438.767,0:1668:23:1607:47942:632 . 0/1:-831.658,0,-802.357:930:444:456:13340:13360 . . 0/1:-906.899,0,-807.272:941:433:488:14300:13144 . . . 0/1:-1262.39,0,-1250.26:1346:639:672:19946:19788 . 0/1:-1235.37,0,-1122.2:1207:572:617:18797:17700 . . 1/1:-2962.04,-322.769,0:1257:18:1208:36148:586 0/1:-1108.43,0,-1133.66:1198:580:596:17585:17781 . . 0/1:-1168.55,0,-1318.31:1306:649:632:18592:20171 . . . 1/1:-3046.41,-338.705,0:1279:14:1234:36866:420 . . . 0/1:-1364.87,0,-1550.64:1518:770:713:21650:23929 0/1:-1409.96,0,-1498.75:1510:745:741:21892:23046 0/1:-937.697,0,-1094.18:1177:595:558:15792:17857 . . 0/1:-815.529,0,-897.279:995:506:457:13343:14554 0/1:-962.328,0,-964.865:1027:494:515:15262:15188 0/1:-1211.63,0,-1289.89:1341:668:648:19273:20296 . . . . 0/1:-1273.29,0,-1579.43:1524:787:711:20845:24099 . . . . . 0/1:-1118.37,0,-1314.9:1286:655:603:17864:20128 0/1:-1061.46,0,-1171.13:1189:598:564:16761:18168 . 0/1:-1126.12,0,-1210.82:1250:617:599:17604:18763 . . . . . . 0/1:-1399.32,0,-1333.77:1464:696:743:21709:21111 . . . 0/1:-1308.29,0,-1380.23:1414:696:680:20598:21287 0/1:-1336.76,0,-1326.39:1418:682:702:21012:20806 . 0/1:-1033.06,0,-1082.8:1147:565:558:16591:17119 . 0/1:-814.713,0,-972.681:933:486:431:12842:14821 0/1:-1305.33,0,-1203.94:1329:628:681:20063:19047 0/1:-640.08,0,-760.297:727:381:333:9959:11561 . . . 0/1:-1441.21,0,-1475.89:1548:739:772:23000:23029 . . . . 0/1:-1594.48,0,-1576.64:1468:719:728:23763:23295:719,728 1/1:-4202.23,-411.102,0:1563:20:1530:49332:642:20,1530 0/1:-807.962,0,-1009.26:841:453:379:12319:14675:453,379 . . 0/1:-1287.56,0,-1430.1:1289:665:605:19474:21247:665,605 . . . 0/1:-1308.39,0,-1614.67:1355:714:628:19939:23253:714,628 . . . 0/1:-1474.37,0,-1331.73:1337:628:689:21762:20131:628,689 . 0/1:-1405.96,0,-1595.73:1412:727:666:21191:23325:727,666 . . 1/1:-3804.34,-378.424,0:1419:18:1389:44762:539:18,1389 chr6 152532702 . T C 4293.76 . AB=0.516484;ABP=4.29887;AC=3;AF=0.5;AN=6;AO=282;CIGAR=1X;DP=1305;DPB=546;DPRA=0;EPP=3.1335;EPPR=4.27115;GTI=0;LEN=1;MEANALT=3;MQM=40.3085;MQMR=40.7984;NS=1;NUMALT=1;ODDS=1168.07;PAIRED=0.989362;PAIREDR=0.991935;PAO=0;PQA=0;PQR=0;PRO=0;QA=8262;QR=7805;RO=248;RPL=127;RPP=9.0473;RPPR=38.8746;RPR=155;RUN=1;SAF=110;SAP=32.6101;SAR=172;SF=0,1;SRF=108;SRP=11.9764;SRR=140;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon123:c.A22303G:p.S7435G,SYNE1:NM_182961:exon124:c.A22516G:p.S7506G;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0171;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0171;1000g2015aug_all=0.00459265;avsnp147=rs35763277;Kaviar_AF=0.0133439;Kaviar_AC=2063;Kaviar_AN=154602;ExAC_ALL=0.0137;ExAC_AFR=0.0033;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0267;ExAC_NFE=0.0205;ExAC_OTH=0.0166;ExAC_SAS=0.0029;CLNALLELEID=135868;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.06;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.14;MutationAssessor_pred=M;FATHMM_score=1.3;FATHMM_pred=T;PROVEAN_score=-2.81;PROVEAN_pred=D;VEST3_score=0.772;CADD_raw=6.017;CADD_phred=27.9;DANN_score=0.999;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.631;MetaSVM_pred=T;MetaLR_score=0.237;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.62;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.058;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.120;GDI_full_10282015=.;dpsi_max_tissue=2.1418;dpsi_zscore=2.012;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0129;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0071;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0277;gnomAD_exome_NFE=0.0195;gnomAD_exome_OTH=0.0121;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0112;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0255;gnomAD_genome_NFE=0.0139;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-554.005,0,-519.739:546:248:282:8262:7805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-417.819,0,-534.132:515:269:234:6570:8034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-221.092,0,-279.584:244:127:112:3378:4020:127,112 . . . . . . . . . . . . . chr6 152534768 . C T 7363.87 . AB=0.485893;ABP=4.66443;AC=5;AF=0.5;AN=10;AO=465;CIGAR=1X;DP=4047;DPB=957;DPRA=0;EPP=3.01497;EPPR=3.12605;GTI=0;LEN=1;MEANALT=3;MQM=39.3398;MQMR=39.6908;NS=1;NUMALT=1;ODDS=2022.06;PAIRED=0.974194;PAIREDR=0.987207;PAO=0;PQA=0;PQR=0;PRO=0;QA=13858;QR=14109;RO=469;RPL=227;RPP=3.57535;RPPR=5.45957;RPR=238;RUN=1;SAF=335;SAP=199.26;SAR=130;SF=0,1;SRF=343;SRP=221.033;SRR=126;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon122:c.G22260A:p.L7420L,SYNE1:NM_182961:exon123:c.G22473A:p.L7491L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0271;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0271;1000g2015aug_all=0.0205671;avsnp147=rs34891041;Kaviar_AF=0.0249609;Kaviar_AC=3859;Kaviar_AN=154602;ExAC_ALL=0.0261;ExAC_AFR=0.0463;ExAC_AMR=0.0073;ExAC_EAS=0.0068;ExAC_FIN=0.0343;ExAC_NFE=0.0328;ExAC_OTH=0.0275;ExAC_SAS=0.0064;CLNALLELEID=135867;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1407;dpsi_zscore=-0.559;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0242;gnomAD_exome_AFR=0.0480;gnomAD_exome_AMR=0.0093;gnomAD_exome_ASJ=0.0124;gnomAD_exome_EAS=0.0071;gnomAD_exome_FIN=0.0339;gnomAD_exome_NFE=0.0320;gnomAD_exome_OTH=0.0241;gnomAD_exome_SAS=0.0070;gnomAD_genome_ALL=0.0329;gnomAD_genome_AFR=0.0518;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0080;gnomAD_genome_FIN=0.0335;gnomAD_genome_NFE=0.0266;gnomAD_genome_OTH=0.0305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-906.381,0,-933.043:957:469:465:13858:14109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-867.226,0,-913.674:936:463:449:13414:13914 . . . . . . 0/1:-477.615,0,-421.499:484:228:251:7312:6761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-868.146,0,-911.18:859:432:416:13013:13481:432,416 . . . . . 0/1:-761.055,0,-886.136:811:421:372:11533:12949:421,372 . . . . . . . . . . . . . chr6 152534789 . T C 5520.23 . AB=0.447412;ABP=17.3986;AC=2;AF=0.5;AN=4;AO=268;CIGAR=1X;DP=1525;DPB=599;DPRA=0;EPP=5.63551;EPPR=6.31531;GTI=0;LEN=1;MEANALT=3;MQM=38.3731;MQMR=39.6132;NS=1;NUMALT=1;ODDS=1012.02;PAIRED=0.966418;PAIREDR=0.984277;PAO=0;PQA=0;PQR=0;PRO=0;QA=7530;QR=9820;RO=318;RPL=103;RPP=34.1563;RPPR=36.4701;RPR=165;RUN=1;SAF=182;SAP=77.683;SAR=86;SF=0;SRF=200;SRP=48.9253;SRR=118;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon122:c.A22239G:p.S7413S,SYNE1:NM_182961:exon123:c.A22452G:p.S7484S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0218;esp6500siv2_ea=0.0302;esp6500siv2_all=0.0218;esp6500siv2_ea=0.0302;1000g2015aug_all=0.0135783;avsnp147=rs36044575;Kaviar_AF=0.0245275;Kaviar_AC=3792;Kaviar_AN=154602;ExAC_ALL=0.0260;ExAC_AFR=0.0046;ExAC_AMR=0.0090;ExAC_EAS=0;ExAC_FIN=0.0912;ExAC_NFE=0.0347;ExAC_OTH=0.0275;ExAC_SAS=0.0038;CLNALLELEID=135866;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0799;dpsi_zscore=0.417;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0265;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0099;gnomAD_exome_ASJ=0.0054;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0908;gnomAD_exome_NFE=0.0339;gnomAD_exome_OTH=0.0274;gnomAD_exome_SAS=0.0034;gnomAD_genome_ALL=0.0346;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0933;gnomAD_genome_NFE=0.0432;gnomAD_genome_OTH=0.0438;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-458.858,0,-659.744:599:318:268:7530:9820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-685.743,0,-989.167:926:489:411:11090:14829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152539446 . G A 2037.38 . AB=0.516529;ABP=3.58457;AC=1;AF=0.5;AN=2;AO=125;CIGAR=1X;DP=242;DPB=242;DPRA=0;EPP=111.428;EPPR=51.4807;GTI=0;LEN=1;MEANALT=3;MQM=37.008;MQMR=36.7321;NS=1;NUMALT=1;ODDS=445.87;PAIRED=0.984;PAIREDR=0.991071;PAO=0;PQA=0;PQR=0;PRO=0;QA=3888;QR=3598;RO=112;RPL=30;RPP=76.4061;RPPR=63.8115;RPR=95;RUN=1;SAF=102;SAP=111.428;SAR=23;SF=0;SRF=87;SRP=77.5383;SRR=25;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon120:c.C21924T:p.D7308D,SYNE1:NM_182961:exon121:c.C22137T:p.D7379D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000998403;avsnp147=rs148556501;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0060;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0.0009;CLNALLELEID=269022;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.3083;dpsi_zscore=-1.631;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0.0068;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0049;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-241.469,0,-219.536:242:112:125:3888:3598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152540147 . A C 6068.99 . AB=0.491971;ABP=3.39387;AC=1;AF=0.5;AN=2;AO=337;CIGAR=1X;DP=685;DPB=685;DPRA=0;EPP=54.0496;EPPR=122.529;GTI=0;LEN=1;MEANALT=2;MQM=38.4837;MQMR=39.2081;NS=1;NUMALT=1;ODDS=1397.44;PAIRED=0.958457;PAIREDR=0.971098;PAO=0;PQA=0;PQR=0;PRO=0;QA=10304;QR=10918;RO=346;RPL=63;RPP=289.883;RPPR=167.716;RPR=274;RUN=1;SAF=214;SAP=56.3692;SAR=123;SF=0;SRF=254;SRP=167.716;SRR=92;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon119:c.T21822G:p.T7274T,SYNE1:NM_182961:exon120:c.T22035G:p.T7345T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750669148;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.119e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.493e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=492984;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6481;dpsi_zscore=-1.776;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.474e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.87e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.227e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . 0/1:-655.892,0,-707.869:685:346:337:10304:10918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152540230 . C T 9809.44 . AB=0.457211;ABP=23.0801;AC=1;AF=0.5;AN=2;AO=577;CIGAR=1X;DP=1262;DPB=1262;DPRA=0;EPP=176.973;EPPR=113.696;GTI=0;LEN=1;MEANALT=3;MQM=38.6222;MQMR=38.8889;NS=1;NUMALT=1;ODDS=2258.71;PAIRED=0.975737;PAIREDR=0.946728;PAO=0;PQA=0;PQR=0;PRO=0;QA=16202;QR=19260;RO=657;RPL=297;RPP=4.09792;RPPR=3.56887;RPR=280;RUN=1;SAF=294;SAP=3.46567;SAR=283;SF=0;SRF=342;SRP=5.41974;SRR=315;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon119:c.G21739A:p.A7247T,SYNE1:NM_182961:exon120:c.G21952A:p.A7318T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs145494541;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.64e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0.0001;CLNALLELEID=268494;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.828;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.95;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=1.58;FATHMM_pred=T;PROVEAN_score=-0.75;PROVEAN_pred=N;VEST3_score=0.684;CADD_raw=3.652;CADD_phred=23.2;DANN_score=0.989;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.772;MetaSVM_pred=T;MetaLR_score=0.261;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.79;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.750;phastCons20way_mammalian=0.232;SiPhy_29way_logOdds=19.617;GDI_full_10282015=.;dpsi_max_tissue=-1.9248;dpsi_zscore=-1.876;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.935e-05;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=9.687e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1007.62,0,-1255.25:1262:657:577:16202:19260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152540278 . A C 30162.82 . AB=0;ABP=0;AC=223;AF=1;AN=230;AO=1230;CIGAR=1X;DP=150763;DPB=1270;DPRA=0;EPP=16.0674;EPPR=49.8093;GTI=0;LEN=1;MEANALT=3;MQM=38.6195;MQMR=29.4828;NS=1;NUMALT=1;ODDS=1543.68;PAIRED=0.957724;PAIREDR=0.931034;PAO=0;PQA=0;PQR=0;PRO=0;QA=36831;QR=506;RO=29;RPL=882;RPP=506.432;RPPR=9.07545;RPR=348;RUN=1;SAF=450;SAP=195.265;SAR=780;SF=0,1;SRF=17;SRP=4.88226;SRR=12;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.9931;esp6500siv2_ea=0.9901;esp6500siv2_all=0.9931;esp6500siv2_ea=0.9901;1000g2015aug_all=0.995607;avsnp147=rs2147377;Kaviar_AF=0.982057;Kaviar_AC=151828;Kaviar_AN=154602;ExAC_ALL=0.9923;ExAC_AFR=0.9981;ExAC_AMR=0.9946;ExAC_EAS=1;ExAC_FIN=0.9891;ExAC_NFE=0.9886;ExAC_OTH=0.9945;ExAC_SAS=0.9988;CLNALLELEID=135865;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.935;MutationAssessor_pred=N;FATHMM_score=1.83;FATHMM_pred=T;PROVEAN_score=2.29;PROVEAN_pred=N;VEST3_score=0.1;CADD_raw=-0.224;CADD_phred=0.977;DANN_score=0.209;fathmm-MKL_coding_score=0.300;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.974;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=3.99;phyloP7way_vertebrate=-0.522;phyloP20way_mammalian=-0.398;phastCons7way_vertebrate=0.534;phastCons20way_mammalian=0.127;SiPhy_29way_logOdds=5.983;GDI_full_10282015=.;dpsi_max_tissue=4.4326;dpsi_zscore=2.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9918;gnomAD_exome_AFR=0.9979;gnomAD_exome_AMR=0.9944;gnomAD_exome_ASJ=0.9934;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9878;gnomAD_exome_NFE=0.9878;gnomAD_exome_OTH=0.9914;gnomAD_exome_SAS=0.9985;gnomAD_genome_ALL=0.9922;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=0.9905;gnomAD_genome_ASJ=0.9868;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9877;gnomAD_genome_NFE=0.9892;gnomAD_genome_OTH=0.9878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-3065.11,-340.364,0:1270:29:1230:36831:506 1/1:-4082.39,-466.256,0:1727:40:1670:48957:596 1/1:-3040.03,-350.623,0:1249:18:1220:36279:283 1/1:-2134.15,-244.718,0:906:14:876:25537:262 1/1:-3104.58,-356.101,0:1324:30:1280:37229:551 1/1:-4194.04,-477.647,0:1749:33:1696:50288:553 1/1:-2983.95,-351.115,0:1264:24:1236:35852:380 1/1:-3623.84,-404.344,0:1518:35:1467:42989:655 1/1:-2987.55,-340.982,0:1257:27:1222:35607:440 1/1:-3965.94,-449.598,0:1660:40:1608:47880:598 1/1:-3065.31,-360.163,0:1293:20:1258:36839:331 0/1:-1291.29,0,-1289.97:1321:645:662:19879:19833 1/1:-2870.71,-318.146,0:1188:29:1152:34212:494 1/1:-2690.24,-316.66,0:1186:23:1144:32754:455 1/1:-2913.38,-322.39,0:1178:20:1149:34766:355 1/1:-4344.22,-491.43,0:1785:31:1743:51654:535 1/1:-2604.05,-276.655,0:1131:37:1079:31718:752 1/1:-6901.77,-773.148,0:2821:53:2750:82299:862 1/1:-3081.1,-345.272,0:1285:27:1247:37056:496 1/1:-2314.47,-260.082,0:967:21:941:27659:351 1/1:-2429.14,-268.831,0:1026:26:991:29094:493 1/1:-3959,-445.277,0:1618:28:1580:47234:483 1/1:-2002.49,-224.812,0:866:21:834:24389:400 1/1:-3967.7,-464.919,0:1645:21:1601:47231:338 1/1:-3572.75,-401.882,0:1468:29:1426:42793:462 1/1:-2549.07,-303.297,0:1098:17:1066:30927:311 1/1:-3518.47,-387.874,0:1438:26:1402:42071:535 1/1:-3521.33,-406.528,0:1446:20:1413:41872:305 1/1:-2578.05,-290.733,0:1099:29:1061:31208:519 1/1:-2386.59,-274.301,0:968:11:951:28347:192 1/1:-2838.95,-330.476,0:1199:21:1163:33938:332 1/1:-4292.03,-487.958,0:1747:28:1700:50902:392 1/1:-3605.41,-400.742,0:1470:26:1434:42814:437 1/1:-1894.28,-215.042,0:810:17:778:22590:292 1/1:-3437.7,-372.85,0:1420:35:1374:41044:601 1/1:-3835.66,-432.988,0:1592:29:1545:45796:504 1/1:-2203.62,-247.519,0:928:20:901:26214:384 1/1:-3551.82,-409.586,0:1443:20:1413:42248:280 1/1:-2948.22,-342.925,0:1232:16:1199:35526:265 0/1:-686.024,0,-909.728:836:433:388:11176:13457 1/1:-4193.56,-476.863,0:1726:29:1682:49987:472 1/1:-2886.08,-315.92,0:1216:29:1173:34719:541 1/1:-3237.5,-359.677,0:1336:28:1301:38555:467 1/1:-3119.44,-355.225,0:1277:19:1247:37065:355 0/1:-1482.51,0,-1720.25:1619:837:763:22871:26220 1/1:-3441.95,-386.062,0:1411:22:1377:40954:429 1/1:-3448.95,-387.072,0:1412:25:1374:41286:421 1/1:-1832.44,-215.499,0:756:7:741:21528:118 1/1:-2545.72,-301.584,0:1055:10:1035:30168:166 1/1:-3654.49,-400.512,0:1471:31:1430:43563:495 1/1:-3490.3,-395.164,0:1464:27:1424:41513:501 0/1:-1149.6,0,-1449.55:1404:724:652:18829:22255 1/1:-4120.86,-458.014,0:1665:28:1620:48958:508 1/1:-3671.47,-424.29,0:1526:22:1488:43749:391 1/1:-2409.11,-279.1,0:1037:22:1002:28867:359 1/1:-2481.19,-292.263,0:1052:16:1023:29778:284 1/1:-3207.29,-364.108,0:1334:23:1297:38131:397 1/1:-2048.22,-233.88,0:882:20:845:24617:318 1/1:-2274.18,-263.85,0:982:23:943:27263:336 1/1:-3269.8,-378.177,0:1370:24:1332:39129:407 1/1:-2436.8,-291.026,0:1042:16:1015:29272:268 1/1:-4136.86,-468.697,0:1744:38:1687:49564:637 1/1:-2868.04,-314.234,0:1184:28:1147:34020:457 1/1:-2237.67,-250.204,0:960:21:928:26881:400 1/1:-4135.98,-464.899,0:1703:35:1654:49443:528 1/1:-3604.72,-410.983,0:1486:22:1445:42875:410 1/1:-1867,-229.18,0:816:16:795:22799:260 1/1:-3540.14,-406.225,0:1435:17:1407:42024:278 1/1:-2565.7,-291.274,0:1078:24:1045:30427:425 1/1:-3311.53,-367.764,0:1414:39:1364:39928:662 1/1:-3050.61,-340.541,0:1261:21:1227:36598:430 1/1:-4318.91,-485.399,0:1788:40:1734:51345:684 1/1:-3821.09,-424.148,0:1572:30:1518:45224:537 1/1:-2054.1,-250.316,0:984:35:937:25849:545 1/1:-3103.56,-349.827,0:1268:23:1240:36926:387 0/1:-1312.3,0,-1822.08:1658:896:737:21533:27568 1/1:-3709.46,-413.335,0:1500:27:1467:43857:447 1/1:-3801.92,-440.182,0:1573:27:1533:45728:478 1/1:-2022.52,-231.096,0:817:12:796:23957:195 1/1:-2430.17,-281.74,0:1017:19:989:28995:266 1/1:-3434.99,-386.95,0:1444:33:1401:41197:586 1/1:-3803.94,-426.602,0:1595:39:1551:45935:656 1/1:-3683.09,-431.137,0:1514:19:1485:43853:295 0/1:-1200.6,0,-1158.69:1248:599:637:18552:18201 1/1:-2568.92,-288.977,0:1098:28:1055:30935:447 1/1:-2784.04,-311.405,0:1145:22:1105:33147:335 1/1:-2373.71,-275.456,0:969:12:949:28215:193 1/1:-3622.23,-417.894,0:1508:24:1468:42929:387 1/1:-2067.74,-241.441,0:850:10:834:24488:160 1/1:-2974.18,-324.709,0:1248:34:1204:35327:571 1/1:-4085.32,-443.788,0:1746:43:1680:49140:940 1/1:-2861.2,-331.933,0:1182:17:1153:34055:245 1/1:-3679.66,-414.241,0:1519:28:1479:44028:459 1/1:-3454.86,-394.923,0:1429:23:1389:41143:371 1/1:-3916.81,-443.06,0:1617:24:1578:46613:458 . 1/1:-3747.47,-392.003,0:1414:22:1386:43510:424:22,1386 1/1:-3194.15,-328.35,0:1201:18:1179:37166:373:18,1179 1/1:-3835.23,-409.046,0:1412:11:1396:44466:172:11,1396 1/1:-2027.07,-208.522,0:783:15:765:23920:303:15,765 1/1:-3109.44,-326.075,0:1164:18:1140:36108:279:18,1140 1/1:-3986.23,-417.557,0:1496:19:1471:46363:356:19,1471 1/1:-3148.31,-326.11,0:1165:18:1145:36628:321:18,1145 1/1:-3490.64,-370.481,0:1304:14:1284:40678:266:14,1284 1/1:-3219.45,-339.943,0:1233:22:1206:37571:352:22,1206 1/1:-3539.71,-369.364,0:1351:25:1322:41416:454:25,1322 1/1:-3721.72,-382.121,0:1393:22:1366:43440:459:22,1366 1/1:-2689.55,-281.724,0:1001:14:981:31292:227:14,981 1/1:-3301.81,-352.448,0:1210:8:1196:38206:112:8,1196 1/1:-3143.99,-326.799,0:1165:15:1147:36656:294:15,1147 0/1:-1241.39,0,-1729.07:1400:782:617:19236:24763:782,617 1/1:-3430.35,-357.506,0:1269:17:1248:39848:304:17,1248 1/1:-3890,-403.039,0:1449:19:1426:45259:403:19,1426 1/1:-3247.89,-336.176,0:1216:19:1191:37842:344:19,1191 1/1:-2994.74,-319.861,0:1099:8:1090:34581:119:8,1090 1/1:-3221.9,-336.484,0:1203:15:1183:37534:279:15,1183 chr6 152542548 . A G 6378.19 . AB=0.498262;ABP=3.03295;AC=37;AF=0.5;AN=72;AO=430;CIGAR=1X;DP=23226;DPB=863;DPRA=0;EPP=49.5505;EPPR=109.496;GTI=0;LEN=1;MEANALT=3;MQM=39.7326;MQMR=40.7986;NS=1;NUMALT=1;ODDS=1955.09;PAIRED=0.974419;PAIREDR=0.995204;PAO=0;PQA=0;PQR=0;PRO=0;QA=13452;QR=13516;RO=417;RPL=140;RPP=116.634;RPPR=137.99;RPR=290;RUN=1;SAF=313;SAP=197.009;SAR=117;SF=0,1;SRF=286;SRP=128.117;SRR=131;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.2572;esp6500siv2_ea=0.2248;esp6500siv2_all=0.2572;esp6500siv2_ea=0.2248;1000g2015aug_all=0.337859;avsnp147=rs9383976;Kaviar_AF=0.271601;Kaviar_AC=41990;Kaviar_AN=154602;ExAC_ALL=0.2805;ExAC_AFR=0.3267;ExAC_AMR=0.2729;ExAC_EAS=0.5778;ExAC_FIN=0.3416;ExAC_NFE=0.2204;ExAC_OTH=0.2483;ExAC_SAS=0.3217;CLNALLELEID=252168;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0162;dpsi_zscore=-0.079;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2823;gnomAD_exome_AFR=0.3294;gnomAD_exome_AMR=0.2694;gnomAD_exome_ASJ=0.2774;gnomAD_exome_EAS=0.5762;gnomAD_exome_FIN=0.3459;gnomAD_exome_NFE=0.2135;gnomAD_exome_OTH=0.2447;gnomAD_exome_SAS=0.3194;gnomAD_genome_ALL=0.2893;gnomAD_genome_AFR=0.3243;gnomAD_genome_AMR=0.2404;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.5689;gnomAD_genome_FIN=0.3427;gnomAD_genome_NFE=0.2303;gnomAD_genome_OTH=0.2776;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-893.278,0,-911.934:863:417:430:13452:13516 0/1:-879.33,0,-752.017:784:363:411:13023:11484 0/1:-489.264,0,-510.832:489:241:239:7415:7682 . . . . . . 0/1:-704.23,0,-825.696:728:380:340:10849:12152 . . . . 1/1:-2136.11,-213.302,0:824:14:801:25643:430 0/1:-538.246,0,-532.448:536:257:270:8218:8183 . . . 0/1:-636.922,0,-570.674:586:274:303:9594:8740 . 0/1:-313.161,0,-491.083:396:226:162:5113:7201 . 0/1:-879.706,0,-927.242:855:427:419:13167:13874 . . . . . . . . . . . 0/1:-522.027,0,-572.342:536:265:265:8065:8544 . 0/1:-646.494,0,-699.16:661:332:319:9953:10654 . . . . . . . 0/1:-635.742,0,-653.986:617:308:300:9731:9888 0/1:-377.415,0,-453.986:395:209:183:5835:6678 0/1:-637.091,0,-602.495:611:291:315:9657:9210 . 0/1:-707.174,0,-823.928:725:384:334:10793:12036 . 0/1:-917.909,0,-907.945:865:428:429:13884:13629 0/1:-736.486,0,-770.592:723:364:349:11129:11679 . . . . . . 0/1:-503.761,0,-566.134:529:267:252:7823:8462 . 0/1:-551.308,0,-646.364:578:299:273:8454:9557 0/1:-495.576,0,-672.841:573:312:250:7874:9824 . 0/1:-743.193,0,-825.36:761:383:370:11330:12405 . . . 0/1:-656.518,0,-828.724:721:383:332:10261:12204 0/1:-618.388,0,-738.495:654:340:308:9479:10956 . . . 0/1:-708.922,0,-578.679:625:282:333:10430:9083 0/1:-798.848,0,-927.865:845:435:393:12444:13751 0/1:-716.981,0,-882.147:792:406:368:11231:13028 . . . . . . . 0/1:-684.177,0,-671.549:666:314:338:10417:10085 . . . . . 0/1:-990.254,0,-1012.68:955:477:466:14807:15194 . 0/1:-789.924,0,-913.46:800:406:382:12080:13394 . 0/1:-791.667,0,-851.769:798:407:383:12087:12871 . 0/1:-417.021,0,-437.054:400:201:196:6217:6370:201,196 . . . . . 0/1:-526.678,0,-563.984:512:260:248:7921:8371:260,248 . . 0/1:-405.502,0,-482.638:411:217:189:6158:6948:217,189 . . 0/1:-484.738,0,-421.205:414:194:217:6998:6311:194,217 . . . 0/1:-586.938,0,-570.503:547:275:265:8660:8643:275,265 0/1:-446.024,0,-515.722:451:238:209:6674:7535:238,209 . . chr6 152545665 . G A 7055.08 . AB=0.471345;ABP=9.1082;AC=1;AF=0.5;AN=2;AO=403;CIGAR=1X;DP=855;DPB=855;DPRA=0;EPP=15.9475;EPPR=66.2602;GTI=0;LEN=1;MEANALT=3;MQM=38.3747;MQMR=40.0851;NS=1;NUMALT=1;ODDS=1624.49;PAIRED=0.965261;PAIREDR=0.950355;PAO=0;PQA=0;PQR=0;PRO=0;QA=11544;QR=13402;RO=423;RPL=142;RPP=79.3136;RPPR=120.059;RPR=261;RUN=1;SAF=214;SAP=6.37797;SAR=189;SF=0;SRF=225;SRP=6.75262;SRR=198;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon116:c.C21273T:p.S7091S,SYNE1:NM_182961:exon117:c.C21486T:p.S7162S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000199681;avsnp147=rs139078338;Kaviar_AF=0.0011966;Kaviar_AC=185;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0002;ExAC_AMR=8.643e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0023;ExAC_OTH=0.0011;ExAC_SAS=6.056e-05;CLNALLELEID=266675;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0369;dpsi_zscore=0.235;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-722.728,0,-901.672:855:423:403:11544:13402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152554928 . C G 6619.42 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=383;CIGAR=1X;DP=766;DPB=766;DPRA=0;EPP=13.4935;EPPR=11.3056;GTI=0;LEN=1;MEANALT=3;MQM=37.2428;MQMR=37.5503;NS=1;NUMALT=1;ODDS=1524.18;PAIRED=0.966057;PAIREDR=0.936508;PAO=0;PQA=0;PQR=0;PRO=0;QA=10817;QR=11510;RO=378;RPL=180;RPP=6.00954;RPPR=4.13625;RPR=203;RUN=1;SAF=175;SAP=9.18454;SAR=208;SF=0;SRF=160;SRP=22.3353;SRR=218;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon111:c.G20487C:p.E6829D,SYNE1:NM_182961:exon112:c.G20700C:p.E6900D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.056;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.545;MutationAssessor_pred=M;FATHMM_score=0.66;FATHMM_pred=T;PROVEAN_score=-2.64;PROVEAN_pred=D;VEST3_score=0.556;CADD_raw=4.407;CADD_phred=24.1;DANN_score=0.998;fathmm-MKL_coding_score=0.770;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.723;MetaSVM_pred=T;MetaLR_score=0.190;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=-1.32;phyloP7way_vertebrate=-0.275;phyloP20way_mammalian=-0.312;phastCons7way_vertebrate=0.887;phastCons20way_mammalian=0.979;SiPhy_29way_logOdds=14.060;GDI_full_10282015=.;dpsi_max_tissue=0.8186;dpsi_zscore=1.400;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-671.621,0,-722.527:766:378:383:10817:11510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152555057 . T A 9216.67 . AB=0.484405;ABP=5.17754;AC=11;AF=0.5;AN=22;AO=497;CIGAR=1X;DP=11629;DPB=1026;DPRA=0;EPP=4.9371;EPPR=3.07789;GTI=0;LEN=1;MEANALT=3;MQM=37.7425;MQMR=39.144;NS=1;NUMALT=1;ODDS=2101.39;PAIRED=0.943662;PAIREDR=0.928016;PAO=0;PQA=0;PQR=0;PRO=0;QA=14762;QR=16140;RO=514;RPL=272;RPP=12.6618;RPPR=3.16239;RPR=225;RUN=1;SAF=282;SAP=22.6235;SAR=215;SF=0,1;SRF=297;SRP=30.0481;SRR=217;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon111:c.A20358T:p.S6786S,SYNE1:NM_182961:exon112:c.A20571T:p.S6857S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0185;esp6500siv2_ea=0.0259;esp6500siv2_all=0.0185;esp6500siv2_ea=0.0259;1000g2015aug_all=0.00978435;avsnp147=rs34905593;Kaviar_AF=0.0200256;Kaviar_AC=3096;Kaviar_AN=154602;ExAC_ALL=0.0203;ExAC_AFR=0.0042;ExAC_AMR=0.0058;ExAC_EAS=0.0002;ExAC_FIN=0.0292;ExAC_NFE=0.0259;ExAC_OTH=0.0177;ExAC_SAS=0.0250;CLNALLELEID=135864;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4141;dpsi_zscore=-1.000;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0198;gnomAD_exome_AFR=0.0040;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0171;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0314;gnomAD_exome_NFE=0.0249;gnomAD_exome_OTH=0.0211;gnomAD_exome_SAS=0.0245;gnomAD_genome_ALL=0.0183;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0301;gnomAD_genome_NFE=0.0260;gnomAD_genome_OTH=0.0276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-923.743,0,-1061.08:1026:514:497:14762:16140 . . . . . . . 0/1:-891.623,0,-982.131:959:486:459:13923:15012 . . 0/1:-790.66,0,-1306.55:1096:617:463:13476:19335 . . . . . . . . 0/1:-561.67,0,-860.065:789:439:346:9739:12956 . 0/1:-879.125,0,-1127.79:1045:552:477:14154:16985 . . . . 0/1:-1077.97,0,-1201.14:1226:614:593:17018:18726 0/1:-980.45,0,-868.352:934:441:483:14777:13367 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1154.91,0,-1392.59:1316:680:622:18354:21187 . . . 0/1:-864.866,0,-1225.84:1082:590:485:14350:18259 . . . . . . . . . . . 0/1:-1230.36,0,-1218.14:1152:557:587:18383:17977:557,587 . . . . . . . 0/1:-961.899,0,-1158.92:1004:527:472:14633:16978:527,472 . chr6 152555072 . T C 7462.16 . AB=0.437378;ABP=37.8218;AC=1;AF=0.5;AN=2;AO=447;CIGAR=1X;DP=1022;DPB=1022;DPRA=0;EPP=34.8829;EPPR=48.0263;GTI=0;LEN=1;MEANALT=3;MQM=38.2573;MQMR=38.9354;NS=1;NUMALT=1;ODDS=1718.23;PAIRED=0.970917;PAIREDR=0.972325;PAO=0;PQA=0;PQR=0;PRO=0;QA=12680;QR=16074;RO=542;RPL=294;RPP=99.5898;RPPR=81.5359;RPR=153;RUN=1;SAF=237;SAP=6.55169;SAR=210;SF=0;SRF=291;SRP=9.42055;SRR=251;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon111:c.A20343G:p.Q6781Q,SYNE1:NM_182961:exon112:c.A20556G:p.Q6852Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs147173664;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=1.655e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.009e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4773;dpsi_zscore=-1.069;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.032e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-769.418,0,-1054.26:1022:542:447:12680:16074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152555112 . C T 10290.38 . AB=0.479218;ABP=6.07903;AC=59;AF=0.5;AN=100;AO=392;CIGAR=1X;DP=45251;DPB=818;DPRA=0;EPP=102.477;EPPR=40.5022;GTI=0;LEN=1;MEANALT=3;MQM=38.773;MQMR=39.3083;NS=1;NUMALT=1;ODDS=1601.52;PAIRED=0.97449;PAIREDR=0.969925;PAO=0;PQA=0;PQR=0;PRO=0;QA=11138;QR=11422;RO=399;RPL=219;RPP=14.7318;RPPR=36.9756;RPR=173;RUN=1;SAF=164;SAP=25.7;SAR=228;SF=0,1;SRF=171;SRP=20.6923;SRR=228;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1688;esp6500siv2_ea=0.2167;esp6500siv2_all=0.1688;esp6500siv2_ea=0.2167;1000g2015aug_all=0.208866;avsnp147=rs2296254;Kaviar_AF=0.229318;Kaviar_AC=35453;Kaviar_AN=154602;ExAC_ALL=0.2374;ExAC_AFR=0.0795;ExAC_AMR=0.4728;ExAC_EAS=0.2240;ExAC_FIN=0.2629;ExAC_NFE=0.2231;ExAC_OTH=0.2557;ExAC_SAS=0.2196;CLNALLELEID=252170;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1657;dpsi_zscore=-0.616;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2433;gnomAD_exome_AFR=0.0730;gnomAD_exome_AMR=0.4534;gnomAD_exome_ASJ=0.1792;gnomAD_exome_EAS=0.2167;gnomAD_exome_FIN=0.2610;gnomAD_exome_NFE=0.2160;gnomAD_exome_OTH=0.2583;gnomAD_exome_SAS=0.2178;gnomAD_genome_ALL=0.1970;gnomAD_genome_AFR=0.0781;gnomAD_genome_AMR=0.4439;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.2189;gnomAD_genome_FIN=0.2651;gnomAD_genome_NFE=0.2297;gnomAD_genome_OTH=0.2669;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-716.845,0,-736.75:818:399:392:11138:11422 . . 1/1:-2468.66,-271.639,0:1078:21:1032:29435:576 . . 0/1:-759.564,0,-655.655:772:356:395:11570:10324 . 0/1:-667.826,0,-631.167:743:347:368:10367:9894 . . . 0/1:-789.376,0,-958.797:1014:525:455:12721:14826 . . 0/1:-934.764,0,-1011.64:1083:534:504:14682:15341 . 0/1:-897.805,0,-1014.36:1036:528:477:13964:15331 . . 0/1:-737.202,0,-827.454:873:429:411:11734:12567 0/1:-921.326,0,-891.717:999:480:484:14207:13865 0/1:-574.559,0,-679.59:759:382:342:9355:10643 1/1:-1471.69,-153.991,0:646:16:612:17685:407 . 0/1:-1288.43,0,-978.435:1271:562:671:19503:15830 . 0/1:-738.864,0,-583.129:749:318:401:11405:9445 0/1:-678.658,0,-813.123:862:440:393:10991:12612 . . . 0/1:-838.736,0,-771.281:923:437:451:12986:12111 . . . 1/1:-2240.48,-252.703,0:943:11:911:26565:280 0/1:-876.993,0,-726.724:899:402:465:13195:11512 . 0/1:-724.182,0,-1072.02:1012:551:431:12142:16075 . . 0/1:-641.067,0,-708.44:752:390:341:10111:10933 0/1:-1065.88,0,-947.625:1126:507:578:16316:14793 0/1:-778.092,0,-903.926:898:459:413:12065:13580 . . . 0/1:-477.292,0,-616.907:669:342:297:8005:9570 1/1:-1736.05,-203.726,0:734:4:702:20268:100 0/1:-762.558,0,-920.473:933:486:420:12174:13882 . . 0/1:-736.953,0,-663.328:820:375:411:11509:10676 . 0/1:-990.712,0,-1006.3:1115:546:531:15503:15537 0/1:-730.996,0,-731.627:790:387:385:11180:11213 . 1/1:-2793.27,-320.271,0:1159:10:1126:33049:257 . 0/1:-476.113,0,-518.234:578:282:272:7643:8088 0/1:-1012.49,0,-715.339:986:417:540:15460:11786 1/1:-1740.87,-190.941,0:765:13:728:20685:375 . . . . 0/1:-493.648,0,-433.894:584:273:288:7737:7323 0/1:-724.352,0,-663.174:759:356:375:11057:10315 . . 1/1:-2265.24,-251.993,0:961:14:916:26635:355 . . 0/1:-840.917,0,-807.848:936:443:461:13253:12567 1/1:-2294.28,-251.264,0:984:13:935:27123:404 . . . . . 0/1:-857.266,0,-802.807:950:443:473:13244:12639 . . 0/1:-977.219,0,-1159.67:1197:613:537:15620:17527 1/1:-1962.28,-226.892,0:855:10:812:23367:266 0/1:-1003.19,0,-895.548:1023:469:523:15160:14044 . 0/1:-711.495,0,-1011.59:973:523:411:11807:15058 . . . 0/1:-1104.52,0,-892.558:976:446:516:16079:13691:446,516 0/1:-483.568,0,-482.446:489:236:240:7277:7193:236,240 . 0/1:-1215.24,0,-1217.98:1211:586:597:17999:18112:586,597 . . . . 0/1:-976.205,0,-939.764:942:453:469:14712:14033:453,469 . 0/1:-672.793,0,-925.08:782:429:335:10390:13307:429,335 . 0/1:-1016.12,0,-940.039:973:462:494:15026:14207:462,494 . 0/1:-1028.57,0,-1199.42:1088:566:504:15522:17471:566,504 . 0/1:-786.984,0,-913.615:840:440:387:12040:13408:440,387 0/1:-1027.82,0,-850.724:923:419:485:15088:12905:419,485 chr6 152557936 . G A 857.90 . AB=0.504762;ABP=3.03098;AC=1;AF=0.5;AN=2;AO=53;CIGAR=1X;DP=105;DPB=105;DPRA=0;EPP=12.2288;EPPR=10.8184;GTI=0;LEN=1;MEANALT=3;MQM=39.5283;MQMR=36.5106;NS=1;NUMALT=1;ODDS=154.4;PAIRED=1;PAIREDR=0.893617;PAO=0;PQA=0;PQR=0;PRO=0;QA=1421;QR=1283;RO=47;RPL=19;RPP=12.2288;RPPR=4.16534;RPR=34;RUN=1;SAF=28;SAP=3.37904;SAR=25;SF=0;SRF=26;SRP=4.16534;SRR=21;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00479233;avsnp147=rs114739771;Kaviar_AF=0.0012419;Kaviar_AC=192;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0126;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=501205;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0795;dpsi_zscore=0.416;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0133;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0124;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR 0/1:-93.0244,0,-73.3426:105:47:53:1421:1283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152560744 . G A 8995.23 . AB=0.523915;ABP=7.47643;AC=1;AF=0.5;AN=2;AO=471;CIGAR=1X;DP=899;DPB=899;DPRA=0;EPP=53.8394;EPPR=85.8812;GTI=0;LEN=1;MEANALT=3;MQM=37.1932;MQMR=39.0625;NS=1;NUMALT=1;ODDS=1824.36;PAIRED=0.934183;PAIREDR=0.942308;PAO=0;PQA=0;PQR=0;PRO=0;QA=14354;QR=12880;RO=416;RPL=214;RPP=11.5348;RPPR=53.1421;RPR=257;RUN=1;SAF=298;SAP=75.0469;SAR=173;SF=0;SRF=264;SRP=68.4885;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon107:c.C19778T:p.T6593I,SYNE1:NM_182961:exon108:c.C19991T:p.T6664I;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0038;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0038;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00419329;avsnp147=rs35079654;Kaviar_AF=0.001022;Kaviar_AC=158;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0102;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=440961;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.151;SIFT_pred=T;Polyphen2_HDIV_score=0.031;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.029;Polyphen2_HVAR_pred=B;LRT_score=0.856;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=1.29;FATHMM_pred=T;PROVEAN_score=-2.5;PROVEAN_pred=D;VEST3_score=0.169;CADD_raw=1.700;CADD_phred=14.40;DANN_score=0.995;fathmm-MKL_coding_score=0.176;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.003;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.51;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.271;phastCons20way_mammalian=0.489;SiPhy_29way_logOdds=9.623;GDI_full_10282015=.;dpsi_max_tissue=0.4322;dpsi_zscore=1.059;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0114;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.271e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0031;gnomAD_genome_AFR=0.0105;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR 0/1:-920.682,0,-820.206:899:416:471:14354:12880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152563590 . C T 667.41 . AB=0.5625;ABP=6.26751;AC=1;AF=0.5;AN=2;AO=54;CIGAR=1X;DP=96;DPB=96;DPRA=0;EPP=39.2015;EPPR=8.7247;GTI=0;LEN=1;MEANALT=3;MQM=36.463;MQMR=37.2895;NS=1;NUMALT=1;ODDS=116.789;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1498;QR=1131;RO=38;RPL=42;RPP=39.2015;RPPR=8.7247;RPR=12;RUN=1;SAF=0;SAP=120.27;SAR=54;SF=0;SRF=0;SRP=85.5263;SRR=38;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs187885923;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.666e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=306360;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0187;dpsi_zscore=0.127;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.958e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.665e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-96.119,0,-68.7494:96:38:54:1498:1131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152565669 . C T 6833.77 . AB=0.471042;ABP=8.66954;AC=1;AF=0.5;AN=2;AO=366;CIGAR=1X;DP=777;DPB=777;DPRA=0;EPP=25.8167;EPPR=11.4144;GTI=0;LEN=1;MEANALT=3;MQM=38.6366;MQMR=39.3206;NS=1;NUMALT=1;ODDS=1573.53;PAIRED=0.959016;PAIREDR=0.979644;PAO=0;PQA=0;PQR=0;PRO=0;QA=10946;QR=12099;RO=393;RPL=148;RPP=32.0819;RPPR=7.65714;RPR=218;RUN=1;SAF=188;SAP=3.6036;SAR=178;SF=0;SRF=206;SRP=5.00496;SRR=187;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.00439297;avsnp147=rs150304757;Kaviar_AF=0.0038745;Kaviar_AC=599;Kaviar_AN=154602;ExAC_ALL=0.0046;ExAC_AFR=0.0004;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0022;ExAC_SAS=0.0299;CLNALLELEID=268517;CLNDN=Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.4069;dpsi_zscore=2.499;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS1512220#"Intellectual_disability_microcephaly_brain_stem_and_cerebellum_hypoplasia_and_delayed_myelination";gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0280;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-696.525,0,-799.069:777:393:366:10946:12099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152565803 . C G 4427.24 . AB=0.452962;ABP=14.0417;AC=1;AF=0.5;AN=2;AO=260;CIGAR=1X;DP=574;DPB=574;DPRA=0;EPP=89.9026;EPPR=105.854;GTI=0;LEN=1;MEANALT=3;MQM=39.3538;MQMR=39.7659;NS=1;NUMALT=1;ODDS=1019.41;PAIRED=0.980769;PAIREDR=0.959866;PAO=0;PQA=0;PQR=0;PRO=0;QA=7326;QR=8708;RO=299;RPL=155;RPP=23.8898;RPPR=55.4815;RPR=105;RUN=1;SAF=114;SAP=11.5626;SAR=146;SF=0;SRF=146;SRP=3.36616;SRR=153;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs200455883;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=3.295e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=368918;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=6.4260;dpsi_zscore=2.781;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.468e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.935e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.164e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.228e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-462.542,0,-579.703:574:299:260:7326:8708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152570274 . A G 6660.89 . AB=0.443288;ABP=29.8566;AC=24;AF=0.5;AN=46;AO=426;CIGAR=1X;DP=17726;DPB=961;DPRA=0;EPP=5.47742;EPPR=3.21375;GTI=0;LEN=1;MEANALT=3;MQM=40.0845;MQMR=40.4054;NS=1;NUMALT=1;ODDS=1685.73;PAIRED=0.981221;PAIREDR=0.978967;PAO=0;PQA=0;PQR=0;PRO=0;QA=11908;QR=15641;RO=523;RPL=174;RPP=34.0226;RPPR=3.34661;RPR=252;RUN=1;SAF=198;SAP=7.59792;SAR=228;SF=0,1;SRF=252;SRP=4.50916;SRR=271;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0567;esp6500siv2_ea=0.0780;esp6500siv2_all=0.0567;esp6500siv2_ea=0.0780;1000g2015aug_all=0.0607029;avsnp147=rs17215781;Kaviar_AF=0.077554;Kaviar_AC=11990;Kaviar_AN=154602;ExAC_ALL=0.0790;ExAC_AFR=0.0130;ExAC_AMR=0.2234;ExAC_EAS=0.0124;ExAC_FIN=0.0761;ExAC_NFE=0.0782;ExAC_OTH=0.0789;ExAC_SAS=0.0588;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4424;dpsi_zscore=1.071;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0847;gnomAD_exome_AFR=0.0118;gnomAD_exome_AMR=0.2103;gnomAD_exome_ASJ=0.0671;gnomAD_exome_EAS=0.0099;gnomAD_exome_FIN=0.0755;gnomAD_exome_NFE=0.0786;gnomAD_exome_OTH=0.0865;gnomAD_exome_SAS=0.0597;gnomAD_genome_ALL=0.0555;gnomAD_genome_AFR=0.0141;gnomAD_genome_AMR=0.1945;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.0117;gnomAD_genome_FIN=0.0781;gnomAD_genome_NFE=0.0692;gnomAD_genome_OTH=0.0765;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-745.898,0,-1061.85:961:523:426:11908:15641 . . 0/1:-585.046,0,-859.659:770:424:336:9392:12579 . . . . . 0/1:-602.115,0,-973.056:830:471:345:9699:14039 . . . . 0/1:-707.517,0,-981.123:910:500:397:11324:14542 . . 0/1:-676.898,0,-842.829:812:417:379:10570:12486 0/1:-711.409,0,-951.959:887:479:393:11439:14008 0/1:-495.072,0,-711.103:660:364:284:8020:10478 0/1:-551.667,0,-611.42:615:307:296:8466:9164 . . . 0/1:-651.652,0,-673.12:697:344:340:9845:10416 . . . . 0/1:-633.509,0,-877.352:827:457:360:10168:13034 . . . 0/1:-678.066,0,-753.989:786:400:370:10474:11532 . . . . . . . 0/1:-746.654,0,-915.034:878:462:400:11501:13478 . . . . . . . . 0/1:-557.188,0,-838.126:767:418:329:9065:12250 . . . . 0/1:-1055.74,0,-1083.75:1123:547:563:16011:16405 . 0/1:-469.687,0,-549.617:561:290:259:7301:8411 0/1:-633.338,0,-834.84:791:417:358:9978:12387 0/1:-474.542,0,-677.18:598:328:256:7430:9935 . . . . . . . . 0/1:-923.969,0,-968.644:994:494:479:14000:14625 . . . 0/1:-795.069,0,-966.669:936:484:435:12414:14367 . . . . . . . . . 1/1:-1643.84,-190.276,0:708:7:680:19160:186 . . . . . . 0/1:-658.866,0,-742.091:669:349:311:9839:10820:349,311 0/1:-293.784,0,-390.312:337:183:150:4594:5656:183,150 . . . . . . . . . . . . 0/1:-526.781,0,-687.689:609:322:277:8149:9990:322,277 . . . chr6 152570415 . G A 10633.39 . AB=0.488011;ABP=3.89543;AC=120;AF=0.5;AN=184;AO=346;CIGAR=1X;DP=69568;DPB=709;DPRA=0;EPP=90.3964;EPPR=29.1702;GTI=0;LEN=1;MEANALT=3;MQM=40.6734;MQMR=40.9971;NS=1;NUMALT=1;ODDS=1404.12;PAIRED=0.991329;PAIREDR=0.976471;PAO=0;PQA=0;PQR=0;PRO=0;QA=9535;QR=9467;RO=340;RPL=169;RPP=3.41196;RPPR=23.0389;RPR=177;RUN=1;SAF=145;SAP=22.6916;SAR=201;SF=0,1;SRF=138;SRP=29.1702;SRR=202;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.6239;esp6500siv2_ea=0.6098;esp6500siv2_all=0.6239;esp6500siv2_ea=0.6098;1000g2015aug_all=0.680711;avsnp147=rs6557210;Kaviar_AF=0.639248;Kaviar_AC=98829;Kaviar_AN=154602;ExAC_ALL=0.6578;ExAC_AFR=0.6567;ExAC_AMR=0.6201;ExAC_EAS=0.8956;ExAC_FIN=0.7816;ExAC_NFE=0.6208;ExAC_OTH=0.6575;ExAC_SAS=0.6602;CLNALLELEID=252172;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9632;dpsi_zscore=-1.449;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6589;gnomAD_exome_AFR=0.6571;gnomAD_exome_AMR=0.6225;gnomAD_exome_ASJ=0.6095;gnomAD_exome_EAS=0.8960;gnomAD_exome_FIN=0.7802;gnomAD_exome_NFE=0.6133;gnomAD_exome_OTH=0.6486;gnomAD_exome_SAS=0.6617;gnomAD_genome_ALL=0.6754;gnomAD_genome_AFR=0.6512;gnomAD_genome_AMR=0.6232;gnomAD_genome_ASJ=0.5927;gnomAD_genome_EAS=0.8847;gnomAD_genome_FIN=0.7782;gnomAD_genome_NFE=0.6467;gnomAD_genome_OTH=0.6861;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-628.489,0,-623.976:709:340:346:9535:9467 1/1:-2171.75,-225.159,0:905:19:878:25440:506 0/1:-743.325,0,-681.645:766:359:390:11214:10449 1/1:-1379.39,-164.55,0:577:3:568:15901:99 . 0/1:-825.682,0,-713.64:837:395:420:12264:11003 1/1:-1761.15,-200.124,0:758:10:742:20658:297 0/1:-825.374,0,-747.837:865:409:433:12317:11490 . 0/1:-924.67,0,-724.949:906:408:470:13686:11406 0/1:-627.985,0,-736.519:744:381:341:9657:10853 0/1:-713.446,0,-512.602:669:290:356:10457:8121 . . 0/1:-633.479,0,-548.552:660:309:330:9423:8477 1/1:-2373.27,-271.001,0:963:7:947:27392:184 1/1:-1479.84,-169.6,0:602:5:594:17099:145 1/1:-3590.51,-398.374,0:1484:19:1454:41592:508 . . 0/1:-460.327,0,-597.467:599:313:265:7313:8847 1/1:-2297.37,-268.199,0:932:5:921:26570:118 0/1:-655.355,0,-393.475:587:235:332:9505:6470 . 0/1:-954.14,0,-767.51:952:431:497:14069:12018 0/1:-643.249,0,-477.611:673:293:357:9777:7814 . . 0/1:-462.752,0,-618.483:631:337:275:7516:9308 0/1:-592.351,0,-603.053:645:328:303:8970:9088 . 0/1:-900.168,0,-981.879:1008:514:471:13703:14594 1/1:-1921.16,-206.593,0:814:13:787:22521:385 . 1/1:-1826.51,-226.494,0:776:2:765:21003:50 . 0/1:-860.63,0,-769.573:889:423:446:12952:11756 1/1:-2091.99,-245.868,0:839:2:827:24128:41 0/1:-807.921,0,-722.545:848:395:430:12111:11155 0/1:-465.073,0,-402.197:471:223:241:6918:6183 0/1:-891.741,0,-886.071:978:474:489:13580:13428 0/1:-801.379,0,-538.536:725:305:410:11673:8621 0/1:-719.024,0,-709.759:772:380:370:10856:10749 0/1:-764.967,0,-631.975:770:348:399:11437:9851 1/1:-2759.4,-313.679,0:1123:7:1103:31873:231 0/1:-789.612,0,-591.825:782:341:418:11742:9414 0/1:-686.754,0,-664.237:733:358:358:10533:10115 1/1:-1027.36,-122.532,0:429:3:423:11945:64 1/1:-1600.59,-174.281,0:654:8:643:18609:243 0/1:-947.006,0,-743.997:934:424:492:14156:11713 0/1:-732.721,0,-694.475:804:384:392:11141:10635 . 0/1:-897.308,0,-773.908:917:433:464:13403:11957 0/1:-702.587,0,-839.184:867:452:390:10988:12445 0/1:-462.697,0,-618.509:620:331:274:7522:9210 1/1:-1689.52,-203.681,0:696:3:686:19584:42 0/1:-806.734,0,-840.848:899:452:428:12282:12677 . 0/1:-547.559,0,-506.538:586:284:284:8345:7819 . 0/1:-499.74,0,-500.932:552:271:270:7690:7581 1/1:-2459.17,-276.458,0:1002:11:986:28492:267 0/1:-535.299,0,-568.143:617:315:289:8280:8652 1/1:-1624.64,-188.003,0:689:6:675:18924:192 0/1:-968.043,0,-844.747:1005:463:509:14601:13009 1/1:-1844.48,-210.281,0:755:6:742:21374:166 0/1:-470.912,0,-523.514:582:288:273:7470:7930 0/1:-655.233,0,-730.451:758:389:347:10105:10862 0/1:-597.179,0,-473.586:581:261:300:8798:7285 0/1:-596.049,0,-667.842:741:377:326:9292:10119 0/1:-749.365,0,-666.681:779:363:391:11252:10269 . . 0/1:-446.114,0,-502.46:560:280:268:7095:7721 1/1:-1777.01,-209.653,0:716:1:706:20406:36 0/1:-893.081,0,-805.936:935:443:468:13358:12356 0/1:-924.879,0,-701.372:892:397:469:13596:10998 0/1:-818.282,0,-826.827:891:437:429:12447:12512 0/1:-540.471,0,-493.364:572:269:276:8173:7538 0/1:-536.758,0,-454.428:564:254:294:8191:7303 0/1:-756.587,0,-771.14:851:422:404:11520:11719 0/1:-833.092,0,-902.686:957:479:447:12923:13667 . 0/1:-642.964,0,-659.322:707:350:333:9767:9979 0/1:-587.594,0,-555.37:670:308:333:9010:8584 1/1:-1657.76,-185.869,0:680:6:663:19276:182 . 0/1:-815.544,0,-936.351:968:495:446:12725:13987 1/1:-1208.59,-142.37,0:495:3:490:13892:67 . 1/1:-2499.2,-233.408,0:1075:37:1031:29725:1029 . 1/1:-2433.21,-286.361,0:973:2:968:28105:63 0/1:-682.725,0,-730.268:814:403:377:10564:11049 1/1:-2260.09,-257.708,0:912:8:903:26165:211 . 1/1:-1716.21,-182.118,0:633:3:623:19752:71:3,623 1/1:-1699.25,-178.494,0:642:7:630:19645:149:7,630 . . 0/1:-501.513,0,-701.013:590:335:250:7835:10050:335,250 1/1:-2074.97,-206.368,0:779:10:766:24172:307:10,766 0/1:-712.002,0,-725.312:697:348:342:10582:10669:348,342 0/1:-693.277,0,-776.321:713:370:332:10376:11322:370,332 0/1:-774.948,0,-627.509:680:316:358:11180:9488:316,358 0/1:-601.643,0,-572.349:565:280:276:8782:8376:280,276 0/1:-770.525,0,-676.409:694:321:359:11242:10040:321,359 0/1:-551.502,0,-560.073:530:268:254:8108:8152:268,254 1/1:-1667.49,-173.044,0:621:6:612:19357:146:6,612 0/1:-649.478,0,-717.973:669:344:312:9696:10453:344,312 0/1:-813.238,0,-646.437:730:330:380:11799:9844:330,380 1/1:-1666.93,-156.103,0:654:16:634:19682:447:16,634 0/1:-759.085,0,-811.863:777:401:361:11322:11968:401,361 0/1:-777.952,0,-540.245:647:277:356:11078:8332:277,356 0/1:-716.149,0,-616.779:637:299:331:10406:9247:299,331 0/1:-638.703,0,-620.166:619:310:295:9405:9175:310,295 chr6 152577752 . T C 9750.89 . AB=0.495127;ABP=3.22194;AC=22;AF=0.5;AN=40;AO=508;CIGAR=1X;DP=22272;DPB=1026;DPRA=0;EPP=10.5506;EPPR=5.55251;GTI=0;LEN=1;MEANALT=3;MQM=37.6496;MQMR=38.8963;NS=1;NUMALT=1;ODDS=1919.34;PAIRED=0.958661;PAIREDR=0.957317;PAO=0;PQA=0;PQR=0;PRO=0;QA=13985;QR=14735;RO=492;RPL=134;RPP=249.224;RPPR=183.101;RPR=374;RUN=1;SAF=325;SAP=89.2024;SAR=183;SF=0,1;SRF=293;SRP=42.0085;SRR=199;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0612;esp6500siv2_ea=0.0598;esp6500siv2_all=0.0612;esp6500siv2_ea=0.0598;1000g2015aug_all=0.0764776;avsnp147=rs17082389;Kaviar_AF=0.067677;Kaviar_AC=10463;Kaviar_AN=154602;ExAC_ALL=0.0703;ExAC_AFR=0.0605;ExAC_AMR=0.0327;ExAC_EAS=0.1240;ExAC_FIN=0.0201;ExAC_NFE=0.0622;ExAC_OTH=0.0760;ExAC_SAS=0.1275;CLNALLELEID=252173;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2382;dpsi_zscore=-0.756;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0674;gnomAD_exome_AFR=0.0604;gnomAD_exome_AMR=0.0320;gnomAD_exome_ASJ=0.1114;gnomAD_exome_EAS=0.1218;gnomAD_exome_FIN=0.0215;gnomAD_exome_NFE=0.0592;gnomAD_exome_OTH=0.0749;gnomAD_exome_SAS=0.1260;gnomAD_genome_ALL=0.0539;gnomAD_genome_AFR=0.0637;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0960;gnomAD_genome_EAS=0.1108;gnomAD_genome_FIN=0.0232;gnomAD_genome_NFE=0.0500;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-875.913,0,-946.273:1026:492:508:13985:14735 . . . . 0/1:-1337.46,0,-1620.85:1656:829:787:21324:25004 0/1:-914.925,0,-1090.67:1115:548:532:14621:16668 . . . . 0/1:-948.853,0,-1084.35:1185:574:574:15531:16940 . . 0/1:-888.669,0,-895.852:1006:471:507:13951:14110 . 0/1:-576.954,0,-960.899:895:501:364:9981:14849 0/1:-2024.14,0,-2549.99:2572:1305:1199:32687:39004 . . . . . . . 0/1:-698.764,0,-854.29:926:457:445:11928:13620 . . 0/1:-622.364,0,-843.028:868:453:387:10603:13371 . . . 0/1:-928.192,0,-1247.53:1275:672:565:15467:19450 . . . . 0/1:-986.153,0,-1075.49:1128:545:563:15712:16475 0/1:-920.283,0,-978.346:1141:560:546:14963:15832 . . . . . . . . . 0/1:-967.691,0,-907.296:1099:488:574:15542:14468 . . . . . . . . . . . . . . 1/1:-1764.54,-215.145,0:857:18:812:21745:418 . . . . . . . . . . . . . . . . . . . . . 0/1:-870.831,0,-1267.7:1189:633:534:14549:19137 . . . . . . . 0/1:-928.458,0,-1403.08:1313:700:576:15558:21153 . . . . . . 0/1:-787.182,0,-884.129:828:424:394:11955:13006:424,394 . . . . . . 0/1:-666.683,0,-705.797:712:357:340:10254:10717:357,340 . 0/1:-756.173,0,-770.752:765:375:377:11434:11560:375,377 . 1/1:-1747.09,-192.194,0:716:6:693:20424:207:6,693 . . . . chr6 152589193 . A G 5585.94 . AB=0.455979;ABP=15.8194;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=761;DPB=761;DPRA=0;EPP=3.31693;EPPR=5.24893;GTI=0;LEN=1;MEANALT=3;MQM=39.3228;MQMR=39.0412;NS=1;NUMALT=1;ODDS=1286.21;PAIRED=0.985591;PAIREDR=0.96134;PAO=0;PQA=0;PQR=0;PRO=0;QA=9443;QR=10802;RO=388;RPL=198;RPP=18.0354;RPPR=14.8527;RPR=149;RUN=1;SAF=81;SAP=217.185;SAR=266;SF=0;SRF=111;SRP=157.23;SRR=277;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon99:c.T18600C:p.A6200A,SYNE1:NM_182961:exon100:c.T18813C:p.A6271A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs368818393;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=501854;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.2675;dpsi_zscore=2.050;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-590.757,0,-695.197:761:388:347:9443:10802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152615200 . G A 15782.74 . AB=0.447236;ABP=46.3197;AC=42;AF=0.5;AN=78;AO=801;CIGAR=1X;DP=60165;DPB=1791;DPRA=0;EPP=66.471;EPPR=111.411;GTI=0;LEN=1;MEANALT=3;MQM=38.2722;MQMR=39.1292;NS=1;NUMALT=1;ODDS=3161.57;PAIRED=0.966292;PAIREDR=0.962185;PAO=0;PQA=0;PQR=0;PRO=0;QA=23042;QR=28871;RO=952;RPL=446;RPP=25.4597;RPPR=4.32413;RPR=355;RUN=1;SAF=276;SAP=171.092;SAR=525;SF=0,1;SRF=325;SRP=211.043;SRR=627;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon93:c.C17532T:p.H5844H,SYNE1:NM_182961:exon94:c.C17745T:p.H5915H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1425;esp6500siv2_ea=0.1917;esp6500siv2_all=0.1425;esp6500siv2_ea=0.1917;1000g2015aug_all=0.147764;avsnp147=rs12664753;Kaviar_AF=0.184098;Kaviar_AC=28462;Kaviar_AN=154602;ExAC_ALL=0.1875;ExAC_AFR=0.0368;ExAC_AMR=0.2182;ExAC_EAS=0.1907;ExAC_FIN=0.2311;ExAC_NFE=0.1932;ExAC_OTH=0.1872;ExAC_SAS=0.2189;CLNALLELEID=135861;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5583;dpsi_zscore=1.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1913;gnomAD_exome_AFR=0.0339;gnomAD_exome_AMR=0.2212;gnomAD_exome_ASJ=0.1421;gnomAD_exome_EAS=0.1906;gnomAD_exome_FIN=0.2323;gnomAD_exome_NFE=0.1932;gnomAD_exome_OTH=0.1841;gnomAD_exome_SAS=0.2175;gnomAD_genome_ALL=0.1531;gnomAD_genome_AFR=0.0359;gnomAD_genome_AMR=0.1914;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.2043;gnomAD_genome_FIN=0.2279;gnomAD_genome_NFE=0.1927;gnomAD_genome_OTH=0.2065;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1409.94,0,-1908.83:1791:952:801:23042:28871 . . . . 0/1:-1420.84,0,-1341.01:1442:686:735:21864:20766 . . 0/1:-1524.59,0,-1748.69:1759:887:833:24518:26739 . . 0/1:-1357.5,0,-1333.93:1404:675:707:20775:20541 . . . 0/1:-933.249,0,-1252.89:1208:634:543:15679:19087 . . . . . . 0/1:-1798,0,-1941.91:2002:995:968:28126:30071 . . . 0/1:-1626.66,0,-1456.91:1619:752:839:24597:22723 . . . . . . 0/1:-1657.21,0,-1739.25:1762:878:858:25504:26866 . . . 0/1:-1391.46,0,-1430.2:1505:734:739:21764:22253 . . . 0/1:-1382.61,0,-1448.64:1504:744:729:21548:22375 . . 0/1:-1352.42,0,-1532.35:1547:788:728:21405:23783 . . 0/1:-1309.67,0,-1280.66:1380:665:681:20217:19875 . 0/1:-1601.01,0,-1569.16:1727:828:869:25285:24554 . 0/1:-1869.7,0,-1950.58:1977:969:970:29003:29798 0/1:-1686.75,0,-1780.44:1840:904:884:26188:27571 0/1:-980.143,0,-1148.6:1163:586:549:15974:17654 0/1:-1193.37,0,-1213.49:1247:612:611:18221:18474 0/1:-1530.81,0,-1602.03:1662:815:816:23769:24597 . . . 0/1:-853.653,0,-1138.37:1104:577:501:14056:17509 . 0/1:-1271.58,0,-1197.13:1325:631:669:19641:18822 . . 0/1:-1564.19,0,-1705.6:1725:857:836:24580:26163 1/1:-2091.41,-259.375,0:931:8:909:25338:221 0/1:-1472.81,0,-1569.63:1603:781:787:22975:24104 0/1:-1129.03,0,-1142.76:1241:602:620:17761:18108 . . 0/1:-1919.17,0,-2072:2077:1045:1003:29969:31579 . . 0/1:-1188.24,0,-1437.81:1374:706:648:19139:21630 . 1/1:-4340.39,-473.334,0:1821:24:1767:51787:756 0/1:-1611.69,0,-1745.83:1805:902:869:25136:27275 . . . . . . . . 0/1:-1021.65,0,-1004.03:1100:513:567:15920:15792 . . . 1/1:-4972.63,-465.883,0:2217:78:2110:61344:2271 . . . 0/1:-1462.44,0,-1608.63:1642:821:794:22862:24878 . . . . 0/1:-934.691,0,-1042.89:937:481:453:14082:15236:481,453 . 0/1:-1782.9,0,-1889.67:1728:871:844:26610:27782:871,844 0/1:-1373.87,0,-1769.81:1477:793:662:20892:25484:793,662 . . 0/1:-1753.79,0,-1640.75:1624:776:819:25650:24568:776,819 . . . . 0/1:-1440.52,0,-1702.63:1509:787:700:21890:24957:787,700 . 0/1:-1638.91,0,-1766.29:1587:808:762:24285:25968:808,762 . 0/1:-1310.63,0,-1578.09:1331:708:609:19640:22689:708,609 0/1:-1554.28,0,-1544.28:1468:728:727:23169:22907:728,727 chr6 152621881 . C T 11537.10 . AB=0.502326;ABP=3.0608;AC=1;AF=0.5;AN=2;AO=540;CIGAR=1X;DP=1075;DPB=1075;DPRA=0;EPP=37.0461;EPPR=16.7096;GTI=0;LEN=1;MEANALT=3;MQM=40.8333;MQMR=40.3087;NS=1;NUMALT=1;ODDS=2419.06;PAIRED=0.964815;PAIREDR=0.953398;PAO=0;PQA=0;PQR=0;PRO=0;QA=17028;QR=15993;RO=515;RPL=248;RPP=10.7954;RPPR=9.42352;RPR=292;RUN=1;SAF=244;SAP=13.8837;SAR=296;SF=1;SRF=221;SRP=25.4798;SRR=294;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon92:c.G17364A:p.P5788P,SYNE1:NM_182961:exon93:c.G17577A:p.P5859P;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs375662583;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=8.238e-06;ExAC_AFR=9.612e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.9234;dpsi_zscore=-1.875;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.123e-06;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1165.8,0,-1061.62:1075:515:540:17028:15993:515,540 . . . . . . . . chr6 152629617 . C T 11314.91 . AB=0.501721;ABP=3.0402;AC=71;AF=0.5;AN=122;AO=583;CIGAR=1X;DP=66439;DPB=1162;DPRA=0;EPP=81.3211;EPPR=25.5686;GTI=0;LEN=1;MEANALT=3;MQM=35.5043;MQMR=37.0827;NS=1;NUMALT=1;ODDS=2229.39;PAIRED=0.941681;PAIREDR=0.899281;PAO=0;PQA=0;PQR=0;PRO=0;QA=16627;QR=16362;RO=556;RPL=265;RPP=13.4728;RPPR=33.2547;RPR=318;RUN=1;SAF=330;SAP=25.0938;SAR=253;SF=0,1;SRF=302;SRP=12.0086;SRR=254;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.2455;esp6500siv2_ea=0.3235;esp6500siv2_all=0.2455;esp6500siv2_ea=0.3235;1000g2015aug_all=0.304313;avsnp147=rs9383985;Kaviar_AF=0.311484;Kaviar_AC=48156;Kaviar_AN=154602;ExAC_ALL=0.3236;ExAC_AFR=0.0858;ExAC_AMR=0.3259;ExAC_EAS=0.5827;ExAC_FIN=0.3552;ExAC_NFE=0.3227;ExAC_OTH=0.3260;ExAC_SAS=0.3273;CLNALLELEID=135859;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1995;dpsi_zscore=-0.686;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3312;gnomAD_exome_AFR=0.0832;gnomAD_exome_AMR=0.3242;gnomAD_exome_ASJ=0.3648;gnomAD_exome_EAS=0.5830;gnomAD_exome_FIN=0.3601;gnomAD_exome_NFE=0.3209;gnomAD_exome_OTH=0.3242;gnomAD_exome_SAS=0.3276;gnomAD_genome_ALL=0.2809;gnomAD_genome_AFR=0.0884;gnomAD_genome_AMR=0.3046;gnomAD_genome_ASJ=0.4027;gnomAD_genome_EAS=0.6065;gnomAD_genome_FIN=0.3625;gnomAD_genome_NFE=0.3338;gnomAD_genome_OTH=0.3060;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-987.579,0,-995.205:1162:556:583:16627:16362 . 0/1:-851.663,0,-1083.75:1140:589:519:14889:17460 0/1:-1211.15,0,-1133.2:1370:652:682:19815:19023 0/1:-910.693,0,-823.16:1048:479:538:15413:13903 0/1:-972.495,0,-1093.11:1223:613:576:16661:17675 0/1:-819.284,0,-800.844:937:451:463:13573:13385 . . 0/1:-981.495,0,-1112.93:1217:603:580:16869:18329 . . . . 0/1:-781.593,0,-798.398:957:454:479:13543:13371 . . 1/1:-1671.53,-212.55,0:744:3:722:20950:71 0/1:-620.354,0,-681.306:750:369:359:10411:10893 0/1:-1122.29,0,-1151.98:1314:619:660:18770:18785 . . 0/1:-993.902,0,-1158.03:1210:614:573:16540:18485 0/1:-697.745,0,-694.074:852:408:418:12021:11831 1/1:-2366.67,-274.727,0:1119:22:1066:30109:630 . . . 1/1:-2235.01,-267.083,0:989:11:956:27907:305 . . 0/1:-982.145,0,-1017.08:1195:568:585:16789:16737 . 0/1:-882.548,0,-1052.87:1139:577:515:14976:17198 . . . . . 0/1:-834.05,0,-892.53:1015:506:489:14017:14685 . 0/1:-920.716,0,-1058.86:1129:570:528:15675:17133 . 1/1:-2665.36,-334.809,0:1204:9:1173:33832:263 0/1:-1048.93,0,-934.042:1194:536:619:17813:15676 . 0/1:-737.495,0,-889.848:956:485:444:12897:14368 0/1:-1177.96,0,-1071.68:1291:587:667:19203:17708 0/1:-877.22,0,-953.866:1118:548:543:15238:15672 0/1:-872.922,0,-1049.43:1144:572:535:15405:17303 0/1:-1016.82,0,-1093.06:1262:616:598:17327:18556 0/1:-895.847,0,-1168.51:1186:610:538:15757:18142 . 0/1:-789.596,0,-697.159:858:390:451:12988:11574 0/1:-995.218,0,-901.256:1131:518:579:16820:15217 0/1:-630.75,0,-449.08:683:284:374:10558:8261 0/1:-652.128,0,-721.089:819:405:389:11311:11993 0/1:-833.428,0,-801.862:962:450:487:14048:13131 1/1:-1503.36,-183.18,0:718:13:687:19593:357 . 0/1:-779.03,0,-775.967:896:439:440:12776:12749 . 0/1:-1103.31,0,-1188.25:1341:666:638:18263:19364 1/1:-2502.25,-310.105,0:1114:8:1081:31370:216 . . . . 0/1:-779.941,0,-959.994:1014:515:479:13636:15341 0/1:-1045.5,0,-1270.43:1341:659:633:17791:19932 0/1:-998.307,0,-1001.86:1180:561:585:16798:16509 1/1:-1440.77,-176.478,0:729:18:691:18574:521 0/1:-837.646,0,-860.763:970:468:472:13812:13949 0/1:-944.773,0,-1098.38:1210:594:575:16415:17568 0/1:-1131.6,0,-1058.3:1242:586:626:18207:17452 0/1:-1159.73,0,-1185.77:1356:659:658:19264:19375 0/1:-556.455,0,-760.256:734:385:329:9630:11625 0/1:-625.372,0,-677.23:771:375:373:10666:11086 . . . 0/1:-873.072,0,-941.778:1108:559:514:14798:15809 1/1:-2295.44,-257.305,0:1056:20:1017:29354:629 . . 1/1:-2649.91,-285.915,0:1232:36:1179:34057:1057 . 0/1:-845.39,0,-1113.65:1120:577:507:14858:17592 0/1:-1458.08,0,-1269.15:1588:727:828:23896:21385 . . 0/1:-939.362,0,-1063.79:1183:574:578:16265:17030 . . . . 0/1:-1165.9,0,-1603.04:1417:777:619:19138:24112:777,619 . 0/1:-1048.84,0,-964.674:1040:494:535:16542:15114:494,535 . 0/1:-1060.65,0,-1263.94:1224:630:563:17255:19591:630,563 . . 0/1:-956.542,0,-1101.75:1088:547:519:15541:16818:547,519 . 0/1:-1053.53,0,-879.122:985:450:519:15989:14081:450,519 0/1:-864.753,0,-1094.74:1039:536:478:14227:16593:536,478 . 1/1:-3081.54,-354.05,0:1269:8:1241:37820:258:8,1241 . . . 0/1:-958.903,0,-1109.18:1074:549:498:15304:17082:549,498 0/1:-1005.87,0,-1060.44:1082:526:534:15886:16243:526,534 chr6 152629617 . C T 12289.53 . AB=0.436838;ABP=52.1113;AC=10;AF=0.5;AN=18;AO=619;CIGAR=1X;DP=10218;DPB=1417;DPRA=0;EPP=51.0318;EPPR=15.5557;GTI=0;LEN=1;MEANALT=3;MQM=37.8805;MQMR=38.5933;NS=1;NUMALT=1;ODDS=2641.76;PAIRED=0.936995;PAIREDR=0.921493;PAO=0;PQA=0;PQR=0;PRO=0;QA=19138;QR=24112;RO=777;RPL=275;RPP=19.712;RPPR=48.0858;RPR=344;RUN=1;SAF=316;SAP=3.60316;SAR=303;SF=1;SRF=386;SRP=3.08017;SRR=391;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.2455;esp6500siv2_ea=0.3235;esp6500siv2_all=0.2455;esp6500siv2_ea=0.3235;1000g2015aug_all=0.304313;avsnp147=rs9383985;Kaviar_AF=0.311484;Kaviar_AC=48156;Kaviar_AN=154602;ExAC_ALL=0.3236;ExAC_AFR=0.0858;ExAC_AMR=0.3259;ExAC_EAS=0.5827;ExAC_FIN=0.3552;ExAC_NFE=0.3227;ExAC_OTH=0.3260;ExAC_SAS=0.3273;CLNALLELEID=135859;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1995;dpsi_zscore=-0.686;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3312;gnomAD_exome_AFR=0.0832;gnomAD_exome_AMR=0.3242;gnomAD_exome_ASJ=0.3648;gnomAD_exome_EAS=0.5830;gnomAD_exome_FIN=0.3601;gnomAD_exome_NFE=0.3209;gnomAD_exome_OTH=0.3242;gnomAD_exome_SAS=0.3276;gnomAD_genome_ALL=0.2809;gnomAD_genome_AFR=0.0884;gnomAD_genome_AMR=0.3046;gnomAD_genome_ASJ=0.4027;gnomAD_genome_EAS=0.6065;gnomAD_genome_FIN=0.3625;gnomAD_genome_NFE=0.3338;gnomAD_genome_OTH=0.3060;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1165.9,0,-1603.04:1417:777:619:19138:24112:777,619 . 0/1:-1048.84,0,-964.674:1040:494:535:16542:15114:494,535 . 0/1:-1060.65,0,-1263.94:1224:630:563:17255:19591:630,563 . . 0/1:-956.542,0,-1101.75:1088:547:519:15541:16818:547,519 . 0/1:-1053.53,0,-879.122:985:450:519:15989:14081:450,519 0/1:-864.753,0,-1094.74:1039:536:478:14227:16593:536,478 . 1/1:-3081.54,-354.05,0:1269:8:1241:37820:258:8,1241 . . . 0/1:-958.903,0,-1109.18:1074:549:498:15304:17082:549,498 0/1:-1005.87,0,-1060.44:1082:526:534:15886:16243:526,534 chr6 152629631 . C T 10855.12 . AB=0.515755;ABP=5.61031;AC=6;AF=0.5;AN=12;AO=622;CIGAR=1X;DP=7882;DPB=1206;DPRA=0;EPP=9.7691;EPPR=3.15243;GTI=0;LEN=1;MEANALT=3;MQM=35.3553;MQMR=36.1964;NS=1;NUMALT=1;ODDS=2072.26;PAIRED=0.900322;PAIREDR=0.909091;PAO=0;PQA=0;PQR=0;PRO=0;QA=17947;QR=15747;RO=550;RPL=292;RPP=8.05147;RPPR=52.5357;RPR=330;RUN=1;SAF=343;SAP=17.3099;SAR=279;SF=0,1;SRF=279;SRP=3.26298;SRR=271;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q\x3bSYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0071;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0071;1000g2015aug_all=0.038139;avsnp147=rs76160752;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;ExAC_ALL=0.0196;ExAC_AFR=0.0575;ExAC_AMR=0.0230;ExAC_EAS=0.0392;ExAC_FIN=0.0023;ExAC_NFE=0.0080;ExAC_OTH=0.0154;ExAC_SAS=0.0371;CLNALLELEID=135858;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.38;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.901;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_pred=N;VEST3_score=0.103;CADD_raw=6.154;CADD_phred=28.5;DANN_score=0.998;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.094;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=0.018;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=9.129;GDI_full_10282015=.;dpsi_max_tissue=-0.6199;dpsi_zscore=-1.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.0571;gnomAD_exome_AMR=0.0261;gnomAD_exome_ASJ=0.0314;gnomAD_exome_EAS=0.0390;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0066;gnomAD_exome_OTH=0.0201;gnomAD_exome_SAS=0.0360;gnomAD_genome_ALL=0.0235;gnomAD_genome_AFR=0.0565;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0438;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1081.63,0,-913.988:1206:550:622:17947:15747 . . . 0/1:-1076.83,0,-1171.4:1339:663:627:17991:19079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-997.016,0,-1177.49:1329:679:604:17091:19078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1192.16,0,-1419.13:1548:811:692:20460:23316 . . . . . . . . . . . . . . . . . . . . . 0/1:-1262.18,0,-1349.63:1402:691:665:20029:20766:691,665 . 0/1:-1041.05,0,-939.26:1058:495:535:16275:14898:495,535 . chr6 152629631 . C T 11409.05 . AB=0.474322;ABP=11.0395;AC=2;AF=0.5;AN=4;AO=665;CIGAR=1X;DP=2460;DPB=1402;DPRA=0;EPP=22.3707;EPPR=11.8376;GTI=0;LEN=1;MEANALT=3;MQM=37.7068;MQMR=39.0637;NS=1;NUMALT=1;ODDS=2880.72;PAIRED=0.935338;PAIREDR=0.965268;PAO=0;PQA=0;PQR=0;PRO=0;QA=20029;QR=20766;RO=691;RPL=307;RPP=11.5035;RPPR=13.2203;RPR=358;RUN=1;SAF=329;SAP=3.1703;SAR=336;SF=1;SRF=328;SRP=6.85987;SRR=363;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q\x3bSYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0071;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0071;1000g2015aug_all=0.038139;avsnp147=rs76160752;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;ExAC_ALL=0.0196;ExAC_AFR=0.0575;ExAC_AMR=0.0230;ExAC_EAS=0.0392;ExAC_FIN=0.0023;ExAC_NFE=0.0080;ExAC_OTH=0.0154;ExAC_SAS=0.0371;CLNALLELEID=135858;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.38;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.901;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_pred=N;VEST3_score=0.103;CADD_raw=6.154;CADD_phred=28.5;DANN_score=0.998;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.094;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=0.018;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=9.129;GDI_full_10282015=.;dpsi_max_tissue=-0.6199;dpsi_zscore=-1.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.0571;gnomAD_exome_AMR=0.0261;gnomAD_exome_ASJ=0.0314;gnomAD_exome_EAS=0.0390;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0066;gnomAD_exome_OTH=0.0201;gnomAD_exome_SAS=0.0360;gnomAD_genome_ALL=0.0235;gnomAD_genome_AFR=0.0565;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0438;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1262.18,0,-1349.63:1402:691:665:20029:20766:691,665 . 0/1:-1041.05,0,-939.26:1058:495:535:16275:14898:495,535 . chr6 152629769 . TTTGAAAAAAAAAAAAAACAGAAAGATAGAC TTTTAAAAAAAAAAAAAACAGAAAGATAGAC,TTTTAAAAAAAAAAAAACAGAAAGATAGAC 157.14 . AB=0.199288;ABP=223.72;AC=6,4;AF=0.5;AN=12;AO=56;CIGAR=3M1X27M;DP=1726;DPB=291.581;DPRA=0;EPP=5.49198;EPPR=5.49198;GTI=0;LEN=1;MEANALT=139;MQM=17.2679;MQMR=18.5714;NS=1;NUMALT=1;ODDS=40.1809;PAIRED=0.785714;PAIREDR=0.857143;PAO=11;PQA=227;PQR=622;PRO=29;QA=628;QR=448;RO=14;RPL=24;RPP=5.49198;RPPR=5.49198;RPR=32;RUN=1;SAF=0;SAP=124.613;SAR=56;SF=1;SRF=0;SRP=33.4109;SRR=14;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=275314;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.1597;dpsi_zscore=-2.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=275314;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.1597;dpsi_zscore=-2.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-10.6307,0,-15.2113,.,.,.:281:14:56,.:628,.:448:14,56 0/1:-11.8987,0,-20.5935,-8.40959,-22.9653,-31.712:361:20:49,40:602,459:635:20,40,49 1/1:-25.3146,-15.308,0,.,.,.:172:3:29,.:438,.:95:3,29 . . . . . . . 2/2:-51.0186,.,.,-26.5557,.,0:270:3:.,60:.,776:97:3,60 . . 2/2:-66.1766,.,.,-39.13,.,0:324:3:.,78:.,1000:93:3,78 1/1:-13.5247,-10.7459,0,.,.,.:318:7:38,.:510,.:219:7,38 . . . . chr6 152629771 . TGAAAAAAAAAAAAAACAGAAAGATAGAC TTAAAAAAAAAAAAACAGAAAGATAGAC,TTAAAAAAAAAAAAAACAGAAAGATAGAC,TGAAAAAAAAAAAAACAGAAAGATAGAC 88.76 . AB=0.38565;ABP=28.3377;AC=22,8,1;AF=0.5;AN=36;AO=86;CIGAR=1M1D1X;DP=5368;DPB=196.667;DPRA=0;EPP=35.7339;EPPR=59.5603;GTI=0;LEN=2;MEANALT=14;MQM=19.3953;MQMR=25.0282;NS=1;NUMALT=1;ODDS=27.5119;PAIRED=0.906977;PAIREDR=0.887324;PAO=2;PQA=41;PQR=32;PRO=1;QA=1488;QR=1551;RO=71;RPL=28;RPP=25.735;RPPR=32.4016;RPR=58;RUN=1;SAF=5;SAP=148.852;SAR=81;SF=0,1;SRF=65;SRP=109.474;SRR=6;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1,1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=275314;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.1597;dpsi_zscore=-2.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.426518;avsnp147=rs535229755;Kaviar_AF=0.0092107;Kaviar_AC=1424;Kaviar_AN=154602;ExAC_ALL=0.4174;ExAC_AFR=0.3202;ExAC_AMR=0.4995;ExAC_EAS=0.5168;ExAC_FIN=0.4261;ExAC_NFE=0.4072;ExAC_OTH=0.4104;ExAC_SAS=0.4128;CLNALLELEID=215329;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4174;gnomAD_exome_AFR=0.3099;gnomAD_exome_AMR=0.4780;gnomAD_exome_ASJ=0.4389;gnomAD_exome_EAS=0.4904;gnomAD_exome_FIN=0.4214;gnomAD_exome_NFE=0.4011;gnomAD_exome_OTH=0.4204;gnomAD_exome_SAS=0.4200;gnomAD_genome_ALL=0.4328;gnomAD_genome_AFR=0.3111;gnomAD_genome_AMR=0.5885;gnomAD_genome_ASJ=0.5775;gnomAD_genome_EAS=0.7624;gnomAD_genome_FIN=0.4817;gnomAD_genome_NFE=0.4450;gnomAD_genome_OTH=0.4729;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:.,.,-54.8772,.,.,.,.,.,.,.:223:71:86,.,.:1488,.,.:1551 . . 0/1:.,.,-72.1311,.,.,.,.,.,.,.:317:93:127,.,.:2085,.,.:1975 . . . . . . 0/1:.,.,-71.0618,.,.,.,.,.,.,.:247:84:104,.,.:1799,.,.:1879 . . . . . . . 0/1:.,.,-49.8812,.,.,.,.,.,.,.:205:53:74,.,.:1275,.,.:1226 . . . . . . 0/1:.,.,-75.6627,.,.,.,.,.,.,.:270:84:85,.,.:1478,.,.:1835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2/2:-2.12653,-14.0136,-6.32463,-9.49491,-11.5068,0,-14.8185,-23.2029,-18.6844,-11.3152:253:11:30,36,20:398,474,316:330:11,30,20,36 . . . 1/1:-52.5282,-22.7043,0,.,.,.,.,.,.,.:302:6:62,.,.:826,.,.:195:6,62 1/3:-80.7085,-38.1762,-11.318,.,.,.,-48.3732,0,.,-31.0938:414:4:74,.,51:1102,.,815:128:4,74,51 1/1:-44.5665,-37.4079,0,.,.,.,.,.,.,.:314:5:63,.,.:730,.,.:163:5,63 2/2:-1.34683,-3.58736,-0.746314,-2.53999,-3.14503,0,-6.8537,-12.9216,-11.8743,-10.3796:367:19:45,44,26:588,591,447:581:19,45,26,44 . 1/1:-43.0759,-27.5521,0,.,.,.,.,.,.,.:302:8:59,.,.:693,.,.:254:8,59 2/2:-6.55745,-14.0912,-5.38222,-9.61196,-12.2863,0,-23.6737,-32.5688,-28.0896,-25.6363:364:15:48,51,20:559,611,275:479:15,48,20,51 . 1/1:-5.68066,-20.088,0,-24.1722,-22.0248,-6.19134,-30.1922,-32.3597,-36.4438,-18.5537:258:8:35,28,14:440,360,199:246:8,35,14,28 1/1:-41.1409,-21.7059,0,.,.,.,.,.,.,.:277:2:48,.,.:645,.,.:65:2,48 . . 1/1:-24.3239,-16.2338,0,.,.,.,.,.,.,.:392:11:57,.,.:823,.,.:354:11,57 1/1:-21.259,-32.8904,0,.,.,.,.,.,.,.:272:5:41,.,.:508,.,.:154:5,41 1/1:-53.2333,-35.5192,0,.,.,.,.,.,.,.:356:7:72,.,.:887,.,.:220:7,72 2/2:-20.0705,.,.,-13.0614,.,0,.,.,.,.:235:5:.,36,.:.,445,.:139:5,36 chr6 152629771 . TGAAAAAAAAAAAAAACAGAAAGATAGAC TTAAAAAAAAAAAAAACAGAAAGATAGAC,TTAAAAAAAAAAAAACAGAAAGATAGAC,TGAAAAAAAAAAAAACAGAAAGATAGAC 169.33 . AB=0,0,0;ABP=0,0,0;AC=8,17,1;AF=0,0,1;AN=26;AO=30,20,36;CIGAR=1M1D1X26M,2M1D26M,1M1X27M;DP=4106;DPB=257.207;DPRA=0,0,0;EPP=17.1973,6.91895,32.2045;EPPR=3.20771;GTI=0;LEN=28,1,1;MEANALT=130,130,130;MQM=21.8667,28.2,20.3056;MQMR=28.1818;NS=1;NUMALT=3;ODDS=32.4307;PAIRED=0.866667,0.9,0.833333;PAIREDR=0.909091;PAO=5.25,8.75,5.25;PQA=92.75,166.75,92.75;PQR=328.75;PRO=17.75;QA=398,316,474;QR=330;RO=11;RPL=8,14,7;RPP=17.1973,9.95901,32.2045;RPPR=3.20771;RPR=22,6,29;RUN=1,1,1;SAF=0,1,0;SAP=68.1545,38.1882,81.1833;SAR=30,19,36;SF=1;SRF=3;SRP=7.94546;SRR=8;TYPE=complex,del,snp;technology.illumina=1,1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=275314;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.1597;dpsi_zscore=-2.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.426518;avsnp147=rs535229755;Kaviar_AF=0.0092107;Kaviar_AC=1424;Kaviar_AN=154602;ExAC_ALL=0.4174;ExAC_AFR=0.3202;ExAC_AMR=0.4995;ExAC_EAS=0.5168;ExAC_FIN=0.4261;ExAC_NFE=0.4072;ExAC_OTH=0.4104;ExAC_SAS=0.4128;CLNALLELEID=215329;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4174;gnomAD_exome_AFR=0.3099;gnomAD_exome_AMR=0.4780;gnomAD_exome_ASJ=0.4389;gnomAD_exome_EAS=0.4904;gnomAD_exome_FIN=0.4214;gnomAD_exome_NFE=0.4011;gnomAD_exome_OTH=0.4204;gnomAD_exome_SAS=0.4200;gnomAD_genome_ALL=0.4328;gnomAD_genome_AFR=0.3111;gnomAD_genome_AMR=0.5885;gnomAD_genome_ASJ=0.5775;gnomAD_genome_EAS=0.7624;gnomAD_genome_FIN=0.4817;gnomAD_genome_NFE=0.4450;gnomAD_genome_OTH=0.4729;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-2.12653,-9.49491,0,-14.0136,-11.5068,-6.32463,-14.8185,-18.6844,-23.2029,-11.3152:253:11:36,30,20:474,398,316:330:11,30,20,36 . . . 2/2:-52.5282,.,.,-22.7043,.,0,.,.,.,.:302:6:.,62,.:.,826,.:195:6,62 2/3:-80.7085,.,.,-38.1762,.,-11.318,-48.3732,.,0,-31.0938:414:4:.,74,51:.,1102,815:128:4,74,51 2/2:-44.5665,.,.,-37.4079,.,0,.,.,.,.:314:5:.,63,.:.,730,.:163:5,63 1/1:-1.34683,-2.53999,0,-3.58736,-3.14503,-0.746314,-6.8537,-11.8743,-12.9216,-10.3796:367:19:44,45,26:591,588,447:581:19,45,26,44 . 2/2:-43.0759,.,.,-27.5521,.,0,.,.,.,.:302:8:.,59,.:.,693,.:254:8,59 1/1:-6.55745,-9.61196,0,-14.0912,-12.2863,-5.38222,-23.6737,-28.0896,-32.5688,-25.6363:364:15:51,48,20:611,559,275:479:15,48,20,51 . 2/2:-5.68066,-24.1722,-6.19134,-20.088,-22.0248,0,-30.1922,-36.4438,-32.3597,-18.5537:258:8:28,35,14:360,440,199:246:8,35,14,28 2/2:-41.1409,.,.,-21.7059,.,0,.,.,.,.:277:2:.,48,.:.,645,.:65:2,48 . . 2/2:-24.3239,.,.,-16.2338,.,0,.,.,.,.:392:11:.,57,.:.,823,.:354:11,57 2/2:-21.259,.,.,-32.8904,.,0,.,.,.,.:272:5:.,41,.:.,508,.:154:5,41 2/2:-53.2333,.,.,-35.5192,.,0,.,.,.,.:356:7:.,72,.:.,887,.:220:7,72 1/1:-20.0705,-13.0614,0,.,.,.,.,.,.,.:235:5:36,.,.:445,.,.:139:5,36 chr6 152629772 . GAAAAAAAAAAAAAAC GAAAAAAAAAAAAAC,TAAAAAAAAAAAAAAC 244.63 . AB=0.4375;ABP=10.0676;AC=34,52;AF=0.5;AN=144;AO=91;CIGAR=1X;DP=17233;DPB=208;DPRA=0;EPP=151.935;EPPR=44.0243;GTI=0;LEN=1;MEANALT=3;MQM=20.1429;MQMR=22.7416;NS=1;NUMALT=1;ODDS=21.2598;PAIRED=0.868132;PAIREDR=0.94382;PAO=0;PQA=0;PQR=0;PRO=0;QA=1611;QR=1962;RO=89;RPL=25;RPP=43.1229;RPPR=8.49998;RPR=66;RUN=1;SAF=19;SAP=70.0396;SAR=72;SF=0;SRF=72;SRP=76.816;SRR=17;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.426518;avsnp147=rs535229755;Kaviar_AF=0.0092107;Kaviar_AC=1424;Kaviar_AN=154602;ExAC_ALL=0.4174;ExAC_AFR=0.3202;ExAC_AMR=0.4995;ExAC_EAS=0.5168;ExAC_FIN=0.4261;ExAC_NFE=0.4072;ExAC_OTH=0.4104;ExAC_SAS=0.4128;CLNALLELEID=215329;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4174;gnomAD_exome_AFR=0.3099;gnomAD_exome_AMR=0.4780;gnomAD_exome_ASJ=0.4389;gnomAD_exome_EAS=0.4904;gnomAD_exome_FIN=0.4214;gnomAD_exome_NFE=0.4011;gnomAD_exome_OTH=0.4204;gnomAD_exome_SAS=0.4200;gnomAD_genome_ALL=0.4328;gnomAD_genome_AFR=0.3111;gnomAD_genome_AMR=0.5885;gnomAD_genome_ASJ=0.5775;gnomAD_genome_EAS=0.7624;gnomAD_genome_FIN=0.4817;gnomAD_genome_NFE=0.4450;gnomAD_genome_OTH=0.4729;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=275314;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.1597;dpsi_zscore=-2.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR 0/2:.,.,.,.,.,-71.3023:208:89:.,91:.,1611:1962 0/1:-37.664,0,-4.62621,.,.,.:311:26:64,.:969,.:624 1/1:-66.6297,-20.9119,0,.,.,.:226:12:76,.:1110,.:266 0/2:.,.,.,.,.,-88.5911:199:86:.,80:.,1332:1980 0/1:-39.3014,0,-14.3277,.,.,.:234:28:57,.:908,.:697 1/1:-52.9649,-3.11966,0,.,.,.:180:11:66,.:969,.:285 . 0/2:.,.,.,.,.,-132.307:232:117:.,94:.,1658:2734 . 0/2:.,.,.,.,.,-154.768:364:160:.,156:.,2682:3550 0/2:.,.,.,.,.,-122.504:269:128:.,109:.,1845:2774 . . . 0/2:.,.,.,.,.,-88.501:218:94:.,89:.,1652:2081 0/2:.,.,.,.,.,-105.549:266:121:.,121:.,2093:2531 . 0/2:.,.,.,.,.,-161.392:381:189:.,153:.,2676:3982 . 0/1:-56.4266,0,-3.94196,.,.,.:145:13:57,.:976,.:378 . 0/2:.,.,.,.,.,-99.8513:269:119:.,118:.,2005:2458 0/1:-43.336,0,-21.5472,.,.,.:172:23:43,.:742,.:632 0/2:.,.,.,.,.,-106.487:332:139:.,142:.,2556:2777 1/1:-82.1127,-9.301,0,.,.,.:229:13:87,.:1346,.:349 . . 0/2:.,.,.,.,.,-114.512:373:141:.,183:.,3183:3038 . 0/2:.,.,.,.,.,-81.7774:216:95:.,99:.,1690:1960 . 0/2:.,.,.,.,.,-154.026:353:173:.,131:.,2391:3653 0/2:.,.,.,.,.,-145.592:268:129:.,96:.,1682:3075 . 0/2:.,.,.,.,.,-94.1624:272:111:.,117:.,2009:2355 0/2:.,.,.,.,.,-128.561:262:119:.,111:.,2091:2593 0/2:.,.,.,.,.,-68.3621:227:97:.,107:.,1953:1976 0/2:.,.,.,.,.,-151.998:312:149:.,125:.,2158:3510 0/2:.,.,.,.,.,-117.249:275:118:.,119:.,2126:2631 0/2:.,.,.,.,.,-62.5767:181:78:.,77:.,1368:1647 . 0/2:.,.,.,.,.,-77.5079:195:85:.,88:.,1609:1865 0/2:.,.,.,.,.,-99.6228:267:113:.,117:.,2152:2506 1/1:-84.0714,-22.9217,0,.,.,.:241:10:86,.:1290,.:273 0/2:-29.9273,.,.,0,.,-28.7308:271:28:.,63:.,707:728 0/1:-48.621,0,-0.725688,.,.,.:213:23:69,.:1079,.:558 0/2:.,.,.,.,.,-76.9361:197:88:.,85:.,1503:1772 0/2:.,.,.,.,.,-43.6808:166:62:.,80:.,1372:1264 0/2:.,.,.,.,.,-91.9521:179:84:.,72:.,1280:1971 0/2:.,.,.,.,.,-111.752:263:122:.,104:.,1792:2525 0/2:.,.,.,.,.,-80.1541:207:89:.,97:.,1607:1935 . . 0/2:.,.,.,.,.,-90.2437:207:93:.,86:.,1458:2128 0/2:.,.,.,.,.,-99.5684:211:93:.,88:.,1566:2076 0/2:.,.,.,.,.,-74.04:172:80:.,67:.,1193:1768 1/1:-72.4505,-12.7606,0,.,.,.:219:19:75,.:1162,.:490 . 0/2:.,.,.,.,.,-78.4485:175:89:.,68:.,1147:1873 0/2:.,.,.,.,.,-67.8:181:80:.,68:.,1154:1662 1/1:-39.7629,-6.91261,0,.,.,.:143:10:50,.:719,.:252 1/1:-73.037,-5.9579,0,.,.,.:263:25:101,.:1497,.:671 . 0/1:-25.8042,0,-17.746,.,.,.:195:22:46,.:645,.:598 0/2:.,.,.,.,.,-102.059:246:113:.,100:.,1760:2421 1/1:-66.4193,-16.6512,0,.,.,.:228:14:67,.:1037,.:295 . 0/2:.,.,.,.,.,-119.234:296:125:.,132:.,2307:2697 . 0/2:.,.,.,.,.,-92.611:300:113:.,133:.,2375:2488 0/2:.,.,.,.,.,-89.785:192:97:.,71:.,1221:2064 1/1:-90.1939,-26.6895,0,.,.,.:235:13:88,.:1330,.:278 0/2:.,.,.,.,.,-128.139:270:131:.,113:.,1820:2951 1/1:-27.8844,-10.371,0,.,.,.:92:5:33,.:413,.:127 0/2:.,.,.,.,.,-63.2269:209:87:.,92:.,1559:1877 0/2:.,.,.,.,.,-134.377:264:132:.,102:.,1813:2966 1/1:-73.3312,-2.84108,0,.,.,.:266:27:97,.:1358,.:691 0/2:.,.,.,.,.,-105.196:247:120:.,107:.,1973:2526 0/2:.,.,.,.,.,-73.239:149:75:.,61:.,1033:1610 . . 0/2:.,.,.,.,.,-140.506:293:133:.,110:.,1872:2940 0/2:.,.,.,.,.,-157.351:367:169:.,141:.,2569:3692 0/2:.,.,.,.,.,-93.0218:194:103:.,76:.,1390:2180 1/1:-61.905,-20.4003,0,.,.,.:161:9:70,.:888,.:213 0/2:.,.,.,.,.,-90.019:240:106:.,93:.,1657:2255 0/2:.,.,.,.,.,-90.0112:238:98:.,99:.,1713:2159 1/1:-82.8143,-10.9973,0,.,.,.:214:16:83,.:1316,.:410 0/2:.,.,.,.,.,-69.2321:196:83:.,86:.,1628:1638 . 1/1:-58.5242,-2.6152,0,.,.,.:293:24:100,.:1299,.:633 0/2:.,.,.,.,.,-71.7135:184:80:.,75:.,1218:1846 0/2:.,.,.,.,.,-123.858:359:152:.,162:.,2836:3151 0/2:.,.,.,.,.,-82.2428:219:95:.,86:.,1523:2067 0/2:.,.,.,.,.,-111.406:342:139:.,157:.,2871:2930 . . . . . . . . . . . . . . . . . . . . . chr6 152631566 . G A 6524.42 . AB=0.45599;ABP=16.7718;AC=1;AF=0.5;AN=2;AO=373;CIGAR=1X;DP=818;DPB=818;DPRA=0;EPP=3.71472;EPPR=3.33807;GTI=0;LEN=1;MEANALT=3;MQM=37.3727;MQMR=38.7571;NS=1;NUMALT=1;ODDS=1502.3;PAIRED=0.954424;PAIREDR=0.964623;PAO=0;PQA=0;PQR=0;PRO=0;QA=10827;QR=13107;RO=424;RPL=127;RPP=85.4506;RPPR=40.8882;RPR=246;RUN=1;SAF=157;SAP=23.2754;SAR=216;SF=0;SRF=187;SRP=15.8138;SRR=237;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon88:c.C16771T:p.R5591C,SYNE1:NM_182961:exon89:c.C16984T:p.R5662C;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs145899734;Kaviar_AF=0.0006339;Kaviar_AC=98;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0004;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=268711;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.28;MutationAssessor_pred=M;FATHMM_score=1.34;FATHMM_pred=T;PROVEAN_score=-4.02;PROVEAN_pred=D;VEST3_score=0.888;CADD_raw=7.635;CADD_phred=35;DANN_score=0.999;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.570;MetaSVM_pred=T;MetaLR_score=0.284;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.725;phastCons20way_mammalian=0.872;SiPhy_29way_logOdds=20.621;GDI_full_10282015=.;dpsi_max_tissue=-0.0883;dpsi_zscore=-0.413;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.489e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-671.318,0,-855.552:818:424:373:10827:13107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152631802 . CTTTTTTTTTTCTTTTTTTACCTTAG CTTTTTTTTTTTCTTTTTTTACCTTAG,CTTTTTTTTTTATTTTTTTACCTTAG 207.74 . AB=0;ABP=0;AC=1,0;AF=0;AN=6;AO=55;CIGAR=11M1X14M;DP=2802;DPB=1039.27;DPRA=0;EPP=46.0055;EPPR=295.642;GTI=0;LEN=1;MEANALT=221;MQM=38.9091;MQMR=40.4159;NS=1;NUMALT=1;ODDS=525.618;PAIRED=0.981818;PAIREDR=0.960302;PAO=5;PQA=112;PQR=165;PRO=7;QA=852;QR=16051;RO=529;RPL=41;RPP=31.7922;RPPR=101.63;RPR=14;RUN=1;SAF=52;SAP=97.8049;SAR=3;SF=1;SRF=170;SRP=149.64;SRR=359;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0152;esp6500siv2_ea=0.0168;esp6500siv2_all=0.0152;esp6500siv2_ea=0.0168;1000g2015aug_all=0.00678914;avsnp147=rs545568394;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;ExAC_ALL=0.0187;ExAC_AFR=0.0105;ExAC_AMR=0.0153;ExAC_EAS=0.0050;ExAC_FIN=0.0184;ExAC_NFE=0.0228;ExAC_OTH=0.0291;ExAC_SAS=0.0166;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0131;gnomAD_exome_AFR=0.0054;gnomAD_exome_AMR=0.0079;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0.0027;gnomAD_exome_FIN=0.0219;gnomAD_exome_NFE=0.0189;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0053;gnomAD_genome_ALL=0.0069;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0040;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0114;gnomAD_genome_NFE=0.0099;gnomAD_genome_OTH=0.0043;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770289521;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.862e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.706e-05;ExAC_OTH=0;ExAC_SAS=6.567e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4451;dpsi_zscore=-1.034;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.246e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.364e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.861e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,.,.,-106.846,.,-1326.36:1035:529:.,55:.,852:16051:529,55 . . . 0/0:0,.,.,-93.0167,.,-1089.18:861:433:.,44:.,630:13112:433,44 . . . . . . . 0/1:-94.6105,0,-572.407,.,.,.:906:254:155,.:3183,.:7793:254,155 . . . . . . . chr6 152631869 . C T 10365.80 . AB=0.47274;ABP=12.0077;AC=1;AF=0.5;AN=2;AO=659;CIGAR=1X;DP=1394;DPB=1394;DPRA=0;EPP=21.5453;EPPR=35.2079;GTI=0;LEN=1;MEANALT=3;MQM=36.83;MQMR=38.0998;NS=1;NUMALT=1;ODDS=2386.81;PAIRED=0.971168;PAIREDR=0.965204;PAO=0;PQA=0;PQR=0;PRO=0;QA=17929;QR=18861;RO=661;RPL=455;RPP=210.605;RPPR=226.797;RPR=204;RUN=1;SAF=208;SAP=197.583;SAR=451;SF=0;SRF=191;SRP=258.728;SRR=470;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon87:c.G16637A:p.R5546Q,SYNE1:NM_182961:exon88:c.G16850A:p.R5617Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=.;esp6500siv2_all=0.0005;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs141550859;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0013;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.002e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=196129;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.347;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.42;FATHMM_pred=T;PROVEAN_score=1.88;PROVEAN_pred=N;VEST3_score=0.202;CADD_raw=0.473;CADD_phred=7.225;DANN_score=0.725;fathmm-MKL_coding_score=0.375;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.951;MetaSVM_pred=T;MetaLR_score=0.020;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=-1.4;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-1.683;phastCons7way_vertebrate=0.726;phastCons20way_mammalian=0.461;SiPhy_29way_logOdds=13.093;GDI_full_10282015=.;dpsi_max_tissue=-0.9583;dpsi_zscore=-1.447;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.747e-05;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.686e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.698e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1087.77,0,-1173.71:1394:661:659:17929:18861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152639250 . C T 8661.74 . AB=0.492927;ABP=3.40962;AC=1;AF=0.5;AN=2;AO=453;CIGAR=1X;DP=919;DPB=919;DPRA=0;EPP=25.8323;EPPR=42.2713;GTI=0;LEN=1;MEANALT=3;MQM=39.011;MQMR=39.6339;NS=1;NUMALT=1;ODDS=1994.44;PAIRED=0.96468;PAIREDR=0.941964;PAO=0;PQA=0;PQR=0;PRO=0;QA=13621;QR=14083;RO=448;RPL=163;RPP=80.3253;RPPR=47.6806;RPR=290;RUN=1;SAF=212;SAP=7.04166;SAR=241;SF=0;SRF=203;SRP=11.5605;SRR=245;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon85:c.G16325A:p.R5442K,SYNE1:NM_182961:exon86:c.G16538A:p.R5513K;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000599042;avsnp147=rs138745849;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0029;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=269431;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.265;MutationAssessor_pred=L;FATHMM_score=1.44;FATHMM_pred=T;PROVEAN_score=-1.12;PROVEAN_pred=N;VEST3_score=0.132;CADD_raw=2.254;CADD_phred=17.87;DANN_score=0.966;fathmm-MKL_coding_score=0.306;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.007;MetaSVM_pred=T;MetaLR_score=0.022;MetaLR_pred=T;integrated_fitCons_score=0.653;integrated_confidence_value=0;GERP++_RS=3.9;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.923;SiPhy_29way_logOdds=9.532;GDI_full_10282015=.;dpsi_max_tissue=-0.1881;dpsi_zscore=-0.663;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0040;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-884.541,0,-923.742:919:448:453:13621:14083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152640110 . G A 9181.83 . AB=0.523438;ABP=6.67466;AC=2;AF=0.5;AN=4;AO=402;CIGAR=1X;DP=1879;DPB=768;DPRA=0;EPP=3.78814;EPPR=4.40227;GTI=0;LEN=1;MEANALT=3;MQM=40.8607;MQMR=40.886;NS=1;NUMALT=1;ODDS=1584.45;PAIRED=0.997512;PAIREDR=0.980057;PAO=0;PQA=0;PQR=0;PRO=0;QA=12128;QR=10677;RO=351;RPL=277;RPP=127.811;RPPR=79.2345;RPR=125;RUN=1;SAF=198;SAP=3.20476;SAR=204;SF=0;SRF=182;SRP=4.05582;SRR=169;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon84:c.C16064T:p.T5355M,SYNE1:NM_182961:exon85:c.C16277T:p.T5426M;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0200;esp6500siv2_ea=0.0272;esp6500siv2_all=0.0200;esp6500siv2_ea=0.0272;1000g2015aug_all=0.0463259;avsnp147=rs2306914;Kaviar_AF=0.0382789;Kaviar_AC=5918;Kaviar_AN=154602;ExAC_ALL=0.0394;ExAC_AFR=0.0043;ExAC_AMR=0.0572;ExAC_EAS=0.1635;ExAC_FIN=0.0389;ExAC_NFE=0.0289;ExAC_OTH=0.0419;ExAC_SAS=0.0265;CLNALLELEID=135857;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.92;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_pred=T;PROVEAN_score=0.28;PROVEAN_pred=N;VEST3_score=0.036;CADD_raw=2.539;CADD_phred=19.72;DANN_score=0.613;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.022;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=0.286;phyloP7way_vertebrate=0.091;phyloP20way_mammalian=0.148;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.452;GDI_full_10282015=.;dpsi_max_tissue=0.0507;dpsi_zscore=0.301;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0406;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0503;gnomAD_exome_ASJ=0.0153;gnomAD_exome_EAS=0.1651;gnomAD_exome_FIN=0.0400;gnomAD_exome_NFE=0.0292;gnomAD_exome_OTH=0.0381;gnomAD_exome_SAS=0.0283;gnomAD_genome_ALL=0.0331;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.1593;gnomAD_genome_FIN=0.0401;gnomAD_genome_NFE=0.0336;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-835.742,0,-704.493:768:351:402:12128:10677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1042.11,0,-1136.46:1111:566:528:15926:16887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152646279 . G C 7837.04 . AB=0.516035;ABP=4.54236;AC=4;AF=0.5;AN=8;AO=354;CIGAR=1X;DP=3421;DPB=686;DPRA=0;EPP=15.9901;EPPR=17.6794;GTI=0;LEN=1;MEANALT=3;MQM=35.548;MQMR=36.5749;NS=1;NUMALT=1;ODDS=1384.51;PAIRED=0.867232;PAIREDR=0.880734;PAO=0;PQA=0;PQR=0;PRO=0;QA=10881;QR=10248;RO=327;RPL=221;RPP=50.5128;RPPR=58.001;RPR=133;RUN=1;SAF=193;SAP=9.29162;SAR=161;SF=0,1;SRF=186;SRP=16.4575;SRR=141;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon80:c.C15384G:p.A5128A,SYNE1:NM_182961:exon81:c.C15597G:p.A5199A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0353;esp6500siv2_ea=0.0280;esp6500siv2_all=0.0353;esp6500siv2_ea=0.0280;1000g2015aug_all=0.0623003;avsnp147=rs9383987;Kaviar_AF=0.042548;Kaviar_AC=6578;Kaviar_AN=154602;ExAC_ALL=0.0443;ExAC_AFR=0.0473;ExAC_AMR=0.0580;ExAC_EAS=0.1592;ExAC_FIN=0.0346;ExAC_NFE=0.0298;ExAC_OTH=0.0430;ExAC_SAS=0.0348;CLNALLELEID=135856;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1710;dpsi_zscore=-0.627;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0446;gnomAD_exome_AFR=0.0490;gnomAD_exome_AMR=0.0526;gnomAD_exome_ASJ=0.0159;gnomAD_exome_EAS=0.1616;gnomAD_exome_FIN=0.0357;gnomAD_exome_NFE=0.0305;gnomAD_exome_OTH=0.0390;gnomAD_exome_SAS=0.0364;gnomAD_genome_ALL=0.0448;gnomAD_genome_AFR=0.0506;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.1533;gnomAD_genome_FIN=0.0358;gnomAD_genome_NFE=0.0334;gnomAD_genome_OTH=0.0349;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-657.612,0,-617.466:686:327:354:10881:10248 . . . . . . . . . . . . . . . 0/1:-664.938,0,-581.959:630:290:338:10227:9237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-850.383,0,-1142.25:1057:560:479:14254:17714 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1158.54,0,-1064.84:1048:499:540:17057:16260:499,540 . . . . . . . . . chr6 152647652 . G A 5736.94 . AB=0.462236;ABP=11.2107;AC=1;AF=0.5;AN=2;AO=306;CIGAR=1X;DP=662;DPB=662;DPRA=0;EPP=19.3602;EPPR=35.3578;GTI=0;LEN=1;MEANALT=3;MQM=38.0621;MQMR=39.0287;NS=1;NUMALT=1;ODDS=1320.98;PAIRED=0.996732;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9375;QR=10809;RO=348;RPL=122;RPP=30.2885;RPPR=30.1911;RPR=184;RUN=1;SAF=165;SAP=7.09778;SAR=141;SF=0;SRF=215;SRP=44.9671;SRR=133;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon78:c.C14859T:p.D4953D,SYNE1:NM_182961:exon79:c.C15072T:p.D5024D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs772100783;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.943e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=7.493e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0653;dpsi_zscore=-0.330;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.249e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.476e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.227e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.659e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-586.591,0,-725.746:662:348:306:9375:10809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152647681 . A T 9180.49 . AB=0.505597;ABP=3.15615;AC=158;AF=0.5;AN=212;AO=271;CIGAR=1X;DP=57888;DPB=536;DPRA=0;EPP=15.1978;EPPR=4.92631;GTI=0;LEN=1;MEANALT=3;MQM=38.8524;MQMR=38.7922;NS=1;NUMALT=1;ODDS=1130.9;PAIRED=0.99631;PAIREDR=0.996078;PAO=0;PQA=0;PQR=0;PRO=0;QA=7896;QR=7868;RO=255;RPL=126;RPP=5.90293;RPPR=4.92631;RPR=145;RUN=1;SAF=176;SAP=55.5824;SAR=95;SF=0,1;SRF=148;SRP=17.325;SRR=107;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon78:c.T14830A:p.L4944M,SYNE1:NM_182961:exon79:c.T15043A:p.L5015M;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.8105;esp6500siv2_ea=0.7494;esp6500siv2_all=0.8105;esp6500siv2_ea=0.7494;1000g2015aug_all=0.814696;avsnp147=rs2306916;Kaviar_AF=0.771588;Kaviar_AC=119289;Kaviar_AN=154602;ExAC_ALL=0.7797;ExAC_AFR=0.9316;ExAC_AMR=0.8756;ExAC_EAS=0.8384;ExAC_FIN=0.8531;ExAC_NFE=0.7581;ExAC_OTH=0.7753;ExAC_SAS=0.6443;CLNALLELEID=135855;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.635;SIFT_pred=T;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;PROVEAN_score=-0.07;PROVEAN_pred=N;VEST3_score=0.073;CADD_raw=1.978;CADD_phred=16.07;DANN_score=0.785;fathmm-MKL_coding_score=0.734;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.977;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.2;phyloP7way_vertebrate=-0.443;phyloP20way_mammalian=0.088;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=6.207;GDI_full_10282015=.;dpsi_max_tissue=-0.0147;dpsi_zscore=-0.070;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7825;gnomAD_exome_AFR=0.9362;gnomAD_exome_AMR=0.8716;gnomAD_exome_ASJ=0.7130;gnomAD_exome_EAS=0.8406;gnomAD_exome_FIN=0.8501;gnomAD_exome_NFE=0.7562;gnomAD_exome_OTH=0.7694;gnomAD_exome_SAS=0.6471;gnomAD_genome_ALL=0.8331;gnomAD_genome_AFR=0.9341;gnomAD_genome_AMR=0.8592;gnomAD_genome_ASJ=0.6887;gnomAD_genome_EAS=0.8358;gnomAD_genome_FIN=0.8481;gnomAD_genome_NFE=0.7754;gnomAD_genome_OTH=0.7802;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-511.729,0,-499.73:536:255:271:7896:7868 1/1:-1713.63,-173.289,0:742:23:698:20738:517 . 1/1:-950.63,-105.099,0:398:6:387:11367:150 . 1/1:-2040.17,-231.544,0:823:6:807:24143:150 1/1:-1423.05,-161.633,0:587:6:564:16828:113 0/1:-574.672,0,-715.925:662:348:303:9085:10592 0/1:-593.75,0,-469.425:558:244:303:8952:7389 0/1:-688.633,0,-707.508:735:360:358:10535:10913 1/1:-1308.07,-139.673,0:576:15:548:15739:356 0/1:-610.788,0,-498.828:570:250:310:9179:7816 1/1:-1390.36,-159.602,0:592:8:570:16700:169 0/1:-541.506,0,-545.347:581:278:292:8417:8572 1/1:-1158.94,-132.915,0:477:7:462:13805:111 0/1:-794.799,0,-928.645:898:456:427:12510:13894 . 1/1:-3162.52,-354.904,0:1264:12:1227:37603:212 0/1:-588.3,0,-543.96:596:279:301:8962:8595 1/1:-1132.62,-122.646,0:470:6:457:13830:190 1/1:-1145.36,-134.992,0:479:6:467:13793:106 1/1:-1736.81,-202.495,0:733:7:705:20585:133 1/1:-926.018,-104.788,0:398:8:387:11420:185 1/1:-1937.84,-217.215,0:783:8:754:23126:156 1/1:-1731.49,-204.819,0:739:9:719:20842:184 1/1:-1318.22,-153.031,0:561:9:543:15821:148 1/1:-1505.34,-177.138,0:616:4:599:17829:56 0/1:-638.232,0,-729.321:687:350:329:9985:10957 0/1:-438.488,0,-474.017:488:244:237:6960:7295 1/1:-1137.11,-127.339,0:451:4:440:13478:78 1/1:-1352.69,-163.038,0:570:5:554:16146:70 0/1:-719.385,0,-752.18:744:362:369:10989:11294 0/1:-658.791,0,-686.764:679:334:323:9983:10415 1/1:-1213.05,-141.358,0:509:4:495:14523:100 1/1:-1630.55,-173.509,0:670:11:644:19251:277 1/1:-1806.2,-205.141,0:739:10:711:21303:158 0/1:-607.999,0,-580.88:620:291:319:9370:9010 0/1:-638.663,0,-653.779:677:331:335:9938:10121 1/1:-1651.59,-185.248,0:664:6:646:19569:137 0/1:-375.132,0,-402.54:406:203:196:5778:6231 0/1:-770.123,0,-845.61:840:423:405:11917:13016 1/1:-1530.36,-164.954,0:636:14:610:18214:258 0/1:-649.759,0,-568.489:633:284:338:9979:8812 1/1:-1619.74,-182.279,0:651:6:632:19172:113 0/1:-809.079,0,-736.275:817:378:418:12306:11512 1/1:-1624.62,-181.873,0:671:9:653:19289:210 1/1:-1642.88,-182.791,0:684:11:659:19699:223 0/1:-323.182,0,-401.807:376:189:177:5147:5963 1/1:-1199.4,-135.879,0:490:7:473:14300:120 1/1:-1699.47,-189.452,0:693:9:671:20236:192 0/1:-698.028,0,-772.738:754:378:364:10861:11923 0/1:-628.445,0,-560.796:655:298:340:9816:8943 1/1:-1963.73,-214.022,0:814:13:777:23467:275 . 1/1:-1173.9,-132.697,0:493:9:479:14238:184 0/1:-552.615,0,-457.991:528:239:278:8391:7381 0/1:-677.683,0,-676.477:690:341:339:10267:10445 0/1:-367.917,0,-349.799:413:195:209:6013:5772 1/1:-1174.81,-124.429,0:489:9:467:13933:214 0/1:-531.156,0,-623.081:611:316:282:8387:9393 1/1:-940.068,-98.7961,0:419:12:391:11479:295 0/1:-726.009,0,-874.84:814:415:380:11303:13100 . 1/1:-1189.52,-132.192,0:499:10:478:14297:202 1/1:-1737.06,-190.52,0:769:19:732:20946:416 1/1:-1706.89,-189.106,0:690:9:673:20291:183 . 0/1:-523.215,0,-726.913:637:339:285:8443:10721 0/1:-487.227,0,-565.023:543:274:260:7638:8519 0/1:-658.46,0,-673.773:713:339:350:10303:10417 1/1:-1632.77,-183.067,0:670:8:648:19326:167 1/1:-1966.26,-222.298,0:791:7:765:23328:120 1/1:-1826.39,-197.886,0:750:13:727:21804:315 1/1:-1110.83,-134.581,0:484:5:467:13314:92 1/1:-1415.29,-159.264,0:561:4:548:16751:78 . 1/1:-1822.02,-202.649,0:757:9:729:21705:228 0/1:-775.476,0,-643.304:767:335:409:11983:10306 0/1:-450.94,0,-412.717:454:211:234:6946:6552 0/1:-374.438,0,-413.006:419:204:200:5856:6194 0/1:-682.854,0,-633.122:691:325:355:10527:9790 0/1:-652.241,0,-628.591:676:320:339:9992:9791 0/1:-683.854,0,-741.185:750:368:365:10685:11424 0/1:-557.63,0,-544.134:585:279:294:8700:8410 1/1:-1311.39,-150.019,0:560:10:540:15827:193 0/1:-517.542,0,-612.068:595:306:272:8186:9350 . 0/1:-718.201,0,-605.455:674:306:358:10839:9487 0/1:-325.875,0,-388.585:360:184:165:5080:5791 0/1:-613.632,0,-604.384:633:300:323:9609:9307 1/1:-1953.71,-197.741,0:841:23:802:23897:609 0/1:-531.621,0,-518.847:552:266:269:8087:8078 0/1:-589.912,0,-784.019:703:380:317:9454:11648 0/1:-671.662,0,-520.413:632:271:349:10171:8364 1/1:-1744.02,-195.653,0:734:13:707:20917:279 . 1/1:-380.087,-42.1442,0:141:0:140:4385:0:0,140 1/1:-424.058,-39.8624,0:165:3:162:5032:108:3,162 0/1:-188.543,0,-222.911:196:101:93:2884:3238:101,93 0/1:-99.2682,0,-137.683:112:60:52:1585:1955:60,52 1/1:-419.876,-44.2836,0:160:3:157:4901:42:3,157 0/1:-175.628,0,-158.999:165:77:87:2662:2421:77,87 . 0/1:-151.487,0,-192.34:163:85:75:2383:2797:85,75 0/1:-167.282,0,-171.652:162:82:80:2536:2563:82,80 0/1:-194.692,0,-124.709:156:63:89:2790:1990:63,89 0/1:-208.646,0,-219.274:212:108:100:3188:3236:108,100 1/1:-385.186,-43.0473,0:143:0:143:4522:0:0,143 1/1:-348.541,-33.1246,0:139:5:132:4134:92:5,132 0/1:-141.213,0,-120.869:127:59:68:2130:1889:59,68 0/1:-196.316,0,-130.692:160:64:94:2900:2043:64,94 0/1:-152.744,0,-151.464:143:69:73:2310:2263:69,73 0/1:-202.792,0,-183.05:177:86:89:2910:2761:86,89 1/1:-375.757,-42.1442,0:142:0:140:4424:0:0,140 1/1:-356.272,-37.1688,0:136:1:133:4164:36:1,133 1/1:-401.678,-44.8535,0:150:0:149:4649:0:0,149 chr6 152650903 . G A 6778.37 . AB=0;ABP=0;AC=8;AF=1;AN=14;AO=481;CIGAR=1X;DP=4987;DPB=501;DPRA=0;EPP=185.4;EPPR=10.7656;GTI=0;LEN=1;MEANALT=3;MQM=38.2557;MQMR=42;NS=1;NUMALT=1;ODDS=607.391;PAIRED=0.970894;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14298;QR=230;RO=7;RPL=112;RPP=301.188;RPPR=5.80219;RPR=369;RUN=1;SAF=373;SAP=320.041;SAR=108;SF=0;SRF=6;SRP=10.7656;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C14704T:p.L4902L,SYNE1:NM_182961:exon78:c.C14917T:p.L4973L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0394;esp6500siv2_ea=0.0436;esp6500siv2_all=0.0394;esp6500siv2_ea=0.0436;1000g2015aug_all=0.033746;avsnp147=rs35085679;Kaviar_AF=0.0345468;Kaviar_AC=5341;Kaviar_AN=154602;ExAC_ALL=0.0342;ExAC_AFR=0.0289;ExAC_AMR=0.0126;ExAC_EAS=0.0227;ExAC_FIN=0.0186;ExAC_NFE=0.0386;ExAC_OTH=0.0330;ExAC_SAS=0.0474;CLNALLELEID=135854;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0008;dpsi_zscore=0.016;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0331;gnomAD_exome_AFR=0.0295;gnomAD_exome_AMR=0.0152;gnomAD_exome_ASJ=0.0432;gnomAD_exome_EAS=0.0231;gnomAD_exome_FIN=0.0146;gnomAD_exome_NFE=0.0396;gnomAD_exome_OTH=0.0317;gnomAD_exome_SAS=0.0467;gnomAD_genome_ALL=0.0310;gnomAD_genome_AFR=0.0274;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0247;gnomAD_genome_FIN=0.0135;gnomAD_genome_NFE=0.0382;gnomAD_genome_OTH=0.0296;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 1/1:-1186.31,-126.672,0:501:7:481:14298:230 . . . . . . 0/1:-587.326,0,-893.884:746:407:332:9812:13418 . . . 0/1:-725.931,0,-677.713:698:332:361:11076:10715 . . . . . 0/1:-499.968,0,-561.668:554:273:273:8084:8653 0/1:-813.189,0,-906.093:876:427:438:12737:14123 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-792.979,0,-910.003:866:444:409:12553:14232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-586.614,0,-880.616:746:414:318:9715:13217 . . . . . . . . . . . . . . . . . . . . . . . . chr6 152651440 . G A 9875.96 . AB=0.452303;ABP=27.0394;AC=1;AF=0.5;AN=2;AO=550;CIGAR=1X;DP=1216;DPB=1216;DPRA=0;EPP=3.07347;EPPR=4.23324;GTI=0;LEN=1;MEANALT=3;MQM=37.4455;MQMR=38.922;NS=1;NUMALT=1;ODDS=2274.02;PAIRED=0.98;PAIREDR=0.965679;PAO=0;PQA=0;PQR=0;PRO=0;QA=16351;QR=19762;RO=641;RPL=326;RPP=44.0867;RPPR=62.9341;RPR=224;RUN=1;SAF=261;SAP=6.10564;SAR=289;SF=0;SRF=294;SRP=12.5262;SRR=347;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C14167T:p.L4723L,SYNE1:NM_182961:exon78:c.C14380T:p.L4794L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs138307449;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=269837;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0026;dpsi_zscore=0.009;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1001.59,0,-1306.32:1216:641:550:16351:19762 . . . . . . . . . . . . . . . . . . . . . . chr6 152651759 . C G 8923.12 . AB=0.482234;ABP=6.25097;AC=18;AF=0.5;AN=34;AO=570;CIGAR=1X;DP=16914;DPB=1182;DPRA=0;EPP=9.10566;EPPR=8.63689;GTI=0;LEN=1;MEANALT=3;MQM=36.8982;MQMR=37.7598;NS=1;NUMALT=1;ODDS=2343.54;PAIRED=0.961404;PAIREDR=0.945486;PAO=0;PQA=0;PQR=0;PRO=0;QA=16742;QR=17595;RO=587;RPL=284;RPP=3.02554;RPPR=3.45791;RPR=286;RUN=1;SAF=271;SAP=5.99703;SAR=299;SF=0,1;SRF=319;SRP=12.6321;SRR=268;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.G13848C:p.L4616L,SYNE1:NM_182961:exon78:c.G14061C:p.L4687L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0547;esp6500siv2_ea=0.0621;esp6500siv2_all=0.0547;esp6500siv2_ea=0.0621;1000g2015aug_all=0.165136;avsnp147=rs3734365;Kaviar_AF=0.0929289;Kaviar_AC=14367;Kaviar_AN=154602;ExAC_ALL=0.0959;ExAC_AFR=0.0446;ExAC_AMR=0.0619;ExAC_EAS=0.4308;ExAC_FIN=0.0735;ExAC_NFE=0.0592;ExAC_OTH=0.1027;ExAC_SAS=0.1342;CLNALLELEID=135852;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0021;dpsi_zscore=0.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0951;gnomAD_exome_AFR=0.0404;gnomAD_exome_AMR=0.0644;gnomAD_exome_ASJ=0.0472;gnomAD_exome_EAS=0.4239;gnomAD_exome_FIN=0.0713;gnomAD_exome_NFE=0.0600;gnomAD_exome_OTH=0.0832;gnomAD_exome_SAS=0.1324;gnomAD_genome_ALL=0.0780;gnomAD_genome_AFR=0.0388;gnomAD_genome_AMR=0.0668;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.4485;gnomAD_genome_FIN=0.0733;gnomAD_genome_NFE=0.0639;gnomAD_genome_OTH=0.0682;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1026.81,0,-1116.06:1182:587:570:16742:17595 . . . 0/1:-1064.21,0,-1101.86:1174:575:584:17084:17570 . . . . . 0/1:-718.304,0,-1029.03:956:519:425:12263:15732 . . . . . . . . . . . 0/1:-954.08,0,-1274.97:1189:640:539:15846:19451 . . . . . . . . . 0/1:-717.763,0,-678.817:756:351:390:11216:10810 . . . . . . . . . . . . . . . . 0/1:-876.508,0,-1122.3:1106:578:506:14474:17296 . . . 0/1:-544.058,0,-783.624:730:400:322:9441:12189 . 0/1:-981.431,0,-1120.67:1162:586:551:15884:17495 0/1:-505.344,0,-645.4:647:340:297:8432:10281 . 0/1:-734.392,0,-942.114:914:479:423:12083:14405 . . . 1/1:-1540.53,-157.866,0:702:20:677:19396:616 . . . . . . . . . . . . 0/1:-874.453,0,-1114.22:1091:569:503:14228:17285 0/1:-1151.08,0,-1037.12:1170:541:611:17679:16419 . . . . . . . . . . . . 0/1:-1028.79,0,-1499.58:1371:755:601:17381:23016 . . . . . . . . . 0/1:-725.603,0,-883.656:799:417:367:11182:13008:417,367 . . . . . . . . 0/1:-890.895,0,-985.229:890:458:423:13387:14367:458,423 . . 0/1:-1003.05,0,-1202.47:1075:563:497:15431:17632:563,497 . . . chr6 152651971 . T G 9021.41 . AB=0.483134;ABP=5.28101;AC=2;AF=0.5;AN=4;AO=444;CIGAR=1X;DP=1908;DPB=919;DPRA=0;EPP=206.542;EPPR=202.897;GTI=0;LEN=1;MEANALT=3;MQM=38.8604;MQMR=38.7489;NS=1;NUMALT=1;ODDS=1948.79;PAIRED=0.961712;PAIREDR=0.970213;PAO=0;PQA=0;PQR=0;PRO=0;QA=13793;QR=15043;RO=470;RPL=161;RPP=75.8035;RPPR=159.43;RPR=283;RUN=1;SAF=291;SAP=96.1489;SAR=153;SF=0;SRF=326;SRP=156.048;SRR=144;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.A13636C:p.N4546H,SYNE1:NM_182961:exon78:c.A13849C:p.N4617H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs147667464;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=9.623e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=269565;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=1.33;FATHMM_pred=T;PROVEAN_score=-2.36;PROVEAN_pred=N;VEST3_score=0.235;CADD_raw=4.654;CADD_phred=24.5;DANN_score=0.979;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.637;MetaSVM_pred=T;MetaLR_score=0.260;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.900;SiPhy_29way_logOdds=16.377;GDI_full_10282015=.;dpsi_max_tissue=0.0014;dpsi_zscore=0.017;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=6.456e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-892.246,0,-972.43:919:470:444:13793:15043 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1014.14,0,-1028.5:989:479:502:15546:15588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152652034 . A T 16968.84 . AB=0.501033;ABP=3.01927;AC=158;AF=0.5;AN=212;AO=485;CIGAR=1X;DP=104759;DPB=968;DPRA=0;EPP=28.1949;EPPR=22.8256;GTI=0;LEN=1;MEANALT=3;MQM=39.567;MQMR=38.7646;NS=1;NUMALT=1;ODDS=1889.21;PAIRED=0.987629;PAIREDR=0.982721;PAO=0;PQA=0;PQR=0;PRO=0;QA=14788;QR=13586;RO=463;RPL=306;RPP=75.2241;RPPR=47.1386;RPR=179;RUN=1;SAF=351;SAP=213.84;SAR=134;SF=0,1;SRF=339;SRP=219.806;SRR=124;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.T13573A:p.S4525T,SYNE1:NM_182961:exon78:c.T13786A:p.S4596T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.7959;esp6500siv2_ea=0.7490;esp6500siv2_all=0.7959;esp6500siv2_ea=0.7490;1000g2015aug_all=0.803315;avsnp147=rs6911096;Kaviar_AF=0.768211;Kaviar_AC=118767;Kaviar_AN=154602;ExAC_ALL=0.7760;ExAC_AFR=0.8869;ExAC_AMR=0.8730;ExAC_EAS=0.8461;ExAC_FIN=0.8531;ExAC_NFE=0.7577;ExAC_OTH=0.7731;ExAC_SAS=0.6448;CLNALLELEID=135851;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.602;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.130;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_pred=T;PROVEAN_score=-0.17;PROVEAN_pred=N;VEST3_score=0.01;CADD_raw=-5.477;CADD_phred=0.001;DANN_score=0.200;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-11.9;phyloP7way_vertebrate=-2.214;phyloP20way_mammalian=-3.450;phastCons7way_vertebrate=0.533;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=2.429;GDI_full_10282015=.;dpsi_max_tissue=0.0038;dpsi_zscore=0.027;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7798;gnomAD_exome_AFR=0.8914;gnomAD_exome_AMR=0.8691;gnomAD_exome_ASJ=0.7118;gnomAD_exome_EAS=0.8473;gnomAD_exome_FIN=0.8501;gnomAD_exome_NFE=0.7561;gnomAD_exome_OTH=0.7672;gnomAD_exome_SAS=0.6479;gnomAD_genome_ALL=0.8219;gnomAD_genome_AFR=0.8947;gnomAD_genome_AMR=0.8568;gnomAD_genome_ASJ=0.6887;gnomAD_genome_EAS=0.8465;gnomAD_genome_FIN=0.8479;gnomAD_genome_NFE=0.7745;gnomAD_genome_OTH=0.7760;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-981.791,0,-856.666:968:463:485:14788:13586 1/1:-2941.99,-311.611,0:1196:22:1166:34924:571 . 1/1:-1659.25,-184.92,0:651:7:640:19444:111 . 1/1:-2878.38,-332.641,0:1184:15:1164:33970:294 1/1:-2328.33,-263.564,0:953:14:935:27445:282 0/1:-905.691,0,-838.883:951:449:477:14066:13117 0/1:-905.055,0,-695.419:823:370:438:13325:11070 0/1:-1155.08,0,-1087.74:1215:587:601:17680:17167 1/1:-2384.77,-248.678,0:995:23:959:28560:547 0/1:-1101.66,0,-865.504:1039:472:553:16349:13955 1/1:-2317.05,-246.317,0:958:21:925:27534:473 0/1:-776.686,0,-687.684:805:380:412:12025:10973 1/1:-2084.86,-241.602,0:847:10:830:24571:184 0/1:-1429.38,0,-1170.62:1341:611:710:21335:18479 . 1/1:-5003.72,-547.988,0:1993:25:1952:58953:567 0/1:-958.369,0,-864.358:980:466:490:14651:13716 1/1:-1776.27,-200.325,0:733:13:718:21178:283 1/1:-1767.99,-207.759,0:698:1:690:20793:27 1/1:-2854.44,-302.445,0:1158:25:1121:33766:520 1/1:-1662.77,-183.065,0:678:7:667:19607:225 1/1:-3117.54,-350.715,0:1250:16:1228:36890:279 1/1:-2797.96,-309.359,0:1134:15:1106:33058:333 1/1:-1854.55,-213.716,0:785:13:765:22376:253 1/1:-2530.28,-281.405,0:1006:11:989:29856:232 0/1:-1124.82,0,-830.549:1034:445:573:16736:13296 0/1:-828.507,0,-665.645:812:367:431:12618:10721 1/1:-2018.05,-229.31,0:817:10:799:23827:197 1/1:-2328.58,-249.496,0:952:19:926:27697:421 0/1:-1394.47,0,-1039.82:1265:555:689:20765:16517 0/1:-1055.15,0,-924.663:1039:488:539:16025:14368 1/1:-1885.38,-203.255,0:767:16:748:22496:308 1/1:-2639.04,-296.802,0:1042:9:1025:31182:169 1/1:-2920.41,-328.511,0:1176:14:1155:34660:262 0/1:-865.712,0,-831.202:866:425:430:13266:12806 0/1:-1206.68,0,-919.702:1134:505:612:18052:14577 1/1:-2369.19,-267.181,0:978:14:957:28026:290 0/1:-724.37,0,-456.698:613:251:351:10609:7451 0/1:-1235.75,0,-1099.71:1196:559:617:18683:16980 1/1:-2132.84,-234.856,0:868:12:852:25347:314 0/1:-1008.66,0,-888.382:996:466:511:15324:13856 1/1:-2285.9,-254.598,0:918:11:901:27131:242 0/1:-1347.23,0,-1163.47:1315:611:678:20394:18166 1/1:-2675.08,-296.469,0:1100:16:1078:31877:395 1/1:-2606.22,-296.631,0:1063:12:1039:30867:252 0/1:-582.734,0,-508.313:576:272:291:8824:8016 1/1:-1796.7,-192.997,0:728:11:712:21286:278 1/1:-3178.34,-342.436,0:1282:24:1252:37483:534 0/1:-1141.79,0,-968.092:1086:511:565:17261:15139 0/1:-1013.17,0,-901.795:1015:479:521:15520:14162 1/1:-3344.22,-378.578,0:1315:10:1301:39234:206 . 1/1:-2154.97,-245.968,0:908:19:883:26057:348 0/1:-745.79,0,-629.157:714:334:372:11237:9757 0/1:-1258.77,0,-938.855:1132:501:620:18679:14880 0/1:-589.402,0,-568.729:612:296:300:9094:8888 1/1:-2010.08,-222.199,0:800:9:785:23863:191 0/1:-930.213,0,-810.244:924:437:473:14137:12656 1/1:-1624.25,-185.054,0:661:9:649:19377:183 0/1:-1252.63,0,-1119.25:1257:590:646:19196:17356 . 1/1:-1683.65,-186.651,0:709:11:692:20392:330 1/1:-3349.62,-379.923,0:1322:9:1305:39504:177 1/1:-2600.31,-290.545,0:1060:15:1033:30840:301 . 0/1:-882.23,0,-1026.63:992:513:461:13921:15325 0/1:-826.081,0,-678.05:809:367:428:12583:10832 0/1:-1022.29,0,-861.104:975:465:498:15461:13418 1/1:-2285.57,-254.085,0:904:10:890:27187:211 1/1:-3325.33,-356.51,0:1334:27:1296:39309:526 1/1:-2939.27,-330.243,0:1160:9:1141:34500:187 1/1:-1527.11,-185.056,0:696:15:675:18616:279 1/1:-2183.79,-243.065,0:865:10:847:25810:210 . 1/1:-2799.38,-320.749,0:1162:17:1135:33478:303 0/1:-1185.45,0,-1049.46:1168:556:593:18084:16566 0/1:-676.549,0,-551.931:632:293:328:10089:8704 0/1:-685.949,0,-534.305:637:288:334:10280:8495 0/1:-1084.77,0,-886.561:1033:466:549:16238:13851 0/1:-1103.41,0,-1022.71:1131:537:575:16913:16060 0/1:-1184.91,0,-1036.96:1156:545:591:17807:16154 0/1:-1113.35,0,-855.061:1042:462:558:16701:13709 1/1:-2328.27,-252.813,0:935:13:914:27595:300 0/1:-868.733,0,-740.593:867:405:442:13369:11821 . 0/1:-1114.02,0,-1069.81:1153:564:568:17233:16466 0/1:-641.951,0,-433.517:570:242:318:9428:7072 0/1:-1127.58,0,-937.76:1080:493:568:17251:14827 1/1:-3498.88,-363.145,0:1415:25:1380:41652:721 0/1:-752.869,0,-799.4:822:414:395:11609:12165 0/1:-1160,0,-967.475:1100:517:564:17359:15110 0/1:-888.674,0,-1007.45:991:504:472:14037:15293 1/1:-2915.93,-321.454,0:1146:14:1127:34383:342 . 1/1:-2748.51,-281.887,0:1011:11:995:31859:236:11,995 1/1:-2848.67,-283.949,0:1062:16:1042:33227:390:16,1042 0/1:-1262.31,0,-1153.31:1172:575:580:18486:17223:575,580 0/1:-649.421,0,-509.149:578:263:305:9535:7960:263,305 1/1:-2627.78,-265.623,0:974:11:955:30704:286:11,955 0/1:-1447.99,0,-957.024:1166:497:647:20593:14900:497,647 . 0/1:-1311.71,0,-901.156:1076:465:596:18766:14079:465,596 0/1:-1055.19,0,-973.924:967:467:482:15565:14491:467,482 0/1:-1142.2,0,-822.427:949:424:513:16505:12792:424,513 0/1:-1352.42,0,-970.509:1100:487:595:19351:14910:487,595 1/1:-2196.32,-225.268,0:809:8:799:25546:210:8,799 1/1:-2459.75,-249.793,0:926:13:908:28715:323:13,908 0/1:-1025.14,0,-862.203:917:431:472:15053:13201:431,472 0/1:-1102.96,0,-947.72:1000:470:519:16173:14340:470,519 0/1:-1028.57,0,-975.189:962:468:476:15231:14456:468,476 0/1:-1270.65,0,-1109.45:1159:548:587:18641:16734:548,587 1/1:-2424.41,-253.172,0:912:8:899:28163:223:8,899 1/1:-2411.92,-247.228,0:890:9:875:28029:214:9,875 1/1:-2607.72,-269.227,0:961:6:949:30323:207:6,949 chr6 152652599 . G A 8501.92 . AB=0;ABP=0;AC=8;AF=1;AN=14;AO=578;CIGAR=1X;DP=6191;DPB=598;DPRA=0;EPP=4.82863;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=37.1661;MQMR=38.3333;NS=1;NUMALT=1;ODDS=753.719;PAIRED=0.958478;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=16829;QR=166;RO=6;RPL=190;RPP=150.295;RPPR=8.80089;RPR=388;RUN=1;SAF=238;SAP=42.0968;SAR=340;SF=0;SRF=2;SRP=4.45795;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C13008T:p.D4336D,SYNE1:NM_182961:exon78:c.C13221T:p.D4407D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0394;esp6500siv2_ea=0.0437;esp6500siv2_all=0.0394;esp6500siv2_ea=0.0437;1000g2015aug_all=0.0335463;avsnp147=rs10499268;Kaviar_AF=0.035006;Kaviar_AC=5412;Kaviar_AN=154602;ExAC_ALL=0.0343;ExAC_AFR=0.0289;ExAC_AMR=0.0128;ExAC_EAS=0.0227;ExAC_FIN=0.0186;ExAC_NFE=0.0388;ExAC_OTH=0.0332;ExAC_SAS=0.0468;CLNALLELEID=135850;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0056;dpsi_zscore=-0.008;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0332;gnomAD_exome_AFR=0.0295;gnomAD_exome_AMR=0.0153;gnomAD_exome_ASJ=0.0447;gnomAD_exome_EAS=0.0230;gnomAD_exome_FIN=0.0146;gnomAD_exome_NFE=0.0397;gnomAD_exome_OTH=0.0319;gnomAD_exome_SAS=0.0463;gnomAD_genome_ALL=0.0312;gnomAD_genome_AFR=0.0275;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0240;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0385;gnomAD_genome_OTH=0.0295;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 1/1:-1392.15,-161.101,0:598:6:578:16829:166 . . . . . . 0/1:-737.442,0,-923.223:953:485:442:12484:14933 . . . 0/1:-748.566,0,-661.188:795:358:415:11986:10967 . . . . . 0/1:-569.328,0,-590.521:664:321:321:9214:9771 0/1:-913.772,0,-1247.44:1174:604:538:15316:19135 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-936.305,0,-826.793:1048:454:557:15152:13882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-797.277,0,-972.543:959:490:448:13065:15162 . . . . . . . . . . . . . . . . . . . . . . . . chr6 152652867 . G A 10084.50 . AB=0.504641;ABP=3.23203;AC=1;AF=0.5;AN=2;AO=598;CIGAR=1X;DP=1185;DPB=1185;DPRA=0;EPP=215.669;EPPR=254.338;GTI=0;LEN=1;MEANALT=3;MQM=38.5518;MQMR=39.0111;NS=1;NUMALT=1;ODDS=2049.05;PAIRED=0.991639;PAIREDR=0.974074;PAO=0;PQA=0;PQR=0;PRO=0;QA=16264;QR=14984;RO=540;RPL=273;RPP=12.8291;RPPR=3.26766;RPR=325;RUN=1;SAF=307;SAP=3.93989;SAR=291;SF=0;SRF=275;SRP=3.41242;SRR=265;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C12740T:p.T4247M,SYNE1:NM_182961:exon78:c.C12953T:p.T4318M;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200825287;Kaviar_AF=0.0003493;Kaviar_AC=54;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0003;ExAC_FIN=0.0038;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.357;SIFT_pred=T;Polyphen2_HDIV_score=0.986;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.742;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=1.4;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_pred=N;VEST3_score=0.36;CADD_raw=5.577;CADD_phred=26.4;DANN_score=0.992;fathmm-MKL_coding_score=0.879;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.063;MetaSVM_pred=T;MetaLR_score=0.104;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.879;SiPhy_29way_logOdds=14.059;GDI_full_10282015=.;dpsi_max_tissue=-0.0178;dpsi_zscore=-0.090;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0044;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1040.1,0,-924.682:1185:540:598:16264:14984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152653037 . T C 5327.31 . AB=0.47619;ABP=5.07837;AC=102;AF=0.5;AN=164;AO=200;CIGAR=1X;DP=37154;DPB=420;DPRA=0;EPP=44.746;EPPR=30.448;GTI=0;LEN=1;MEANALT=3;MQM=39.23;MQMR=39.0421;NS=1;NUMALT=1;ODDS=815.915;PAIRED=0.955;PAIREDR=0.976636;PAO=0;PQA=0;PQR=0;PRO=0;QA=6145;QR=6429;RO=214;RPL=165;RPP=186.5;RPPR=96.5257;RPR=35;RUN=1;SAF=50;SAP=111.584;SAR=150;SF=0,1;SRF=50;SRP=134.882;SRR=164;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.4863;esp6500siv2_ea=0.4607;esp6500siv2_all=0.4863;esp6500siv2_ea=0.4607;1000g2015aug_all=0.413139;avsnp147=rs9478314;Kaviar_AF=0.454457;Kaviar_AC=70260;Kaviar_AN=154602;ExAC_ALL=0.4608;ExAC_AFR=0.5380;ExAC_AMR=0.6803;ExAC_EAS=0.1624;ExAC_FIN=0.4514;ExAC_NFE=0.4696;ExAC_OTH=0.4458;ExAC_SAS=0.3856;CLNALLELEID=252183;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1000;dpsi_zscore=0.483;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4690;gnomAD_exome_AFR=0.5405;gnomAD_exome_AMR=0.6746;gnomAD_exome_ASJ=0.5493;gnomAD_exome_EAS=0.1611;gnomAD_exome_FIN=0.4579;gnomAD_exome_NFE=0.4617;gnomAD_exome_OTH=0.4686;gnomAD_exome_SAS=0.3890;gnomAD_genome_ALL=0.4793;gnomAD_genome_AFR=0.5492;gnomAD_genome_AMR=0.6480;gnomAD_genome_ASJ=0.5265;gnomAD_genome_EAS=0.1273;gnomAD_genome_FIN=0.4653;gnomAD_genome_NFE=0.4722;gnomAD_genome_OTH=0.4398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-396.235,0,-415.924:420:214:200:6145:6429 0/1:-554.243,0,-528.923:550:252:289:8390:8087 . . . 0/1:-628.442,0,-416.104:527:208:311:9240:6673 1/1:-1023.74,-105.86,0:424:8:408:12127:226 0/1:-448.357,0,-500.832:486:243:233:7104:7636 0/1:-321.534,0,-393.881:372:184:182:5016:5835 0/1:-431.244,0,-585.192:525:278:237:6861:8720 0/1:-394.362,0,-449.987:449:222:218:6205:6896 . 0/1:-506.193,0,-481.186:492:233:251:7573:7458 . 0/1:-342.83,0,-395.439:377:195:178:5272:6012 0/1:-535.355,0,-613.841:597:297:291:8305:9386 . 0/1:-700.896,0,-865.946:796:405:380:10996:12901 0/1:-398.603,0,-492.982:429:227:197:6096:7301 1/1:-869.249,-95.6423,0:370:5:350:10469:127 0/1:-314.192,0,-286.592:310:148:159:4752:4463 0/1:-584.619,0,-688.464:649:333:307:9049:10500 0/1:-165.37,0,-294.272:235:138:94:2788:4408 0/1:-493.153,0,-577.581:535:272:255:7699:8631 1/1:-1250.27,-131.237,0:537:10:518:14940:313 1/1:-875.142,-105.325,0:379:4:369:10720:78 0/1:-343.303,0,-493.626:427:228:193:5460:7286 . 0/1:-352.688,0,-386.24:387:193:189:5485:6017 . 1/1:-922.594,-107.081,0:384:3:377:10982:108 0/1:-533.854,0,-589.889:562:279:275:8251:8822 0/1:-388.708,0,-537.851:496:260:226:6334:8073 0/1:-261.013,0,-381.516:340:187:146:4282:5712 0/1:-413.864,0,-442:440:213:220:6420:6594 0/1:-434.163,0,-624.189:541:290:236:6929:9231 0/1:-440.406,0,-437.139:458:212:237:6910:6690 . 1/1:-953.451,-96.393,0:417:11:394:11474:329 0/1:-241.84,0,-349.093:306:161:139:3925:5198 . 0/1:-321.958,0,-508.678:422:237:180:5229:7560 0/1:-415.933,0,-417.671:433:209:212:6306:6520 0/1:-486.934,0,-476.155:515:243:255:7517:7543 0/1:-580.332,0,-593.067:595:290:292:8879:9013 1/1:-1097.27,-115.275,0:460:7:442:13061:226 0/1:-515.886,0,-464.019:505:234:263:7841:7191 . 0/1:-334.077,0,-361.458:355:169:180:5154:5378 1/1:-1390.14,-151.271,0:570:8:553:16407:205 . 0/1:-448.45,0,-456.091:478:221:245:7123:6973 0/1:-511.631,0,-545.825:533:255:270:7844:8212 . 0/1:-289.835,0,-339.332:333:166:158:4615:5170 0/1:-349.726,0,-321.348:346:164:179:5334:4990 . . 1/1:-859.922,-76.3015,0:372:13:352:10590:380 . 1/1:-644.619,-70.4978,0:288:6:275:7986:159 0/1:-426.648,0,-588.969:515:274:235:6901:8741 . . 1/1:-1306.71,-127.015,0:564:13:534:15642:456 1/1:-1188.77,-136.682,0:495:4:479:14162:100 . 0/1:-512.815,0,-530.968:523:250:261:7821:8014 0/1:-289.036,0,-372.37:348:182:162:4628:5595 0/1:-403.703,0,-424.331:433:209:213:6210:6535 0/1:-344.425,0,-425.74:406:206:194:5404:6432 0/1:-594.896,0,-645.448:625:308:311:9155:9682 0/1:-537.901,0,-548.5:552:266:276:8361:8291 1/1:-755.825,-90.5357,0:344:4:329:9142:109 1/1:-864.665,-90.1133,0:379:8:359:10446:241 . 0/1:-423.918,0,-534.166:487:251:228:6659:7993 . 0/1:-354.987,0,-296.574:332:153:174:5298:4688 0/1:-286.978,0,-298.306:308:150:156:4492:4696 0/1:-471.311,0,-500.407:494:244:241:7272:7554 . 0/1:-482.434,0,-544.282:535:262:261:7704:8310 . 1/1:-865.824,-101.229,0:368:4:353:10375:118 . . 0/1:-486.922,0,-447.587:487:233:249:7399:7128 . 0/1:-445.955,0,-361.9:423:184:231:6877:5738 0/1:-504.123,0,-679.012:600:318:280:8026:10261 . 0/1:-464.22,0,-609.673:559:299:253:7492:9191 0/1:-425.85,0,-574.202:522:281:229:6752:8682 0/1:-379.372,0,-609.781:508:288:213:6269:9045 . 1/1:-1058.77,-110.826,0:408:4:400:12390:122:4,400 0/1:-515.248,0,-430.669:462:205:252:7680:6529:205,252 0/1:-609.05,0,-517.645:537:242:286:8813:7763:242,286 . 0/1:-414.363,0,-398.102:393:191:197:6080:5994:191,197 0/1:-462.971,0,-443.386:448:218:225:6979:6656:218,225 . 0/1:-543.56,0,-541.815:520:255:260:8022:8151:255,260 . 0/1:-365.661,0,-373.827:354:173:174:5397:5569:173,174 . 1/1:-978.172,-100.731,0:380:5:368:11430:130:5,368 1/1:-945.938,-96.4521,0:375:6:361:11169:172:6,361 . 0/1:-393.561,0,-393.516:382:189:191:5919:5920:189,191 0/1:-398.295,0,-534.227:445:242:200:6118:7697:242,200 . 0/1:-407.379,0,-434.229:399:202:194:6060:6392:202,194 1/1:-1102.44,-115.113,0:419:3:411:12833:108:3,411 1/1:-1024.27,-93.0352,0:403:10:383:12176:326:10,383 chr6 152655330 . C T 8361.08 . AB=0.477055;ABP=7.79335;AC=1;AF=0.5;AN=2;AO=499;CIGAR=1X;DP=1046;DPB=1046;DPRA=0;EPP=73.198;EPPR=11.7791;GTI=0;LEN=1;MEANALT=3;MQM=39.9579;MQMR=39.8053;NS=1;NUMALT=1;ODDS=1925.21;PAIRED=0.977956;PAIREDR=0.959924;PAO=0;PQA=0;PQR=0;PRO=0;QA=13587;QR=15392;RO=524;RPL=332;RPP=121.484;RPPR=155.776;RPR=167;RUN=1;SAF=212;SAP=27.4883;SAR=287;SF=0;SRF=263;SRP=3.02688;SRR=261;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon76:c.G12394A:p.E4132K,SYNE1:NM_182961:exon77:c.G12607A:p.E4203K;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0261;esp6500siv2_ea=.;esp6500siv2_all=0.0261;esp6500siv2_ea=.;1000g2015aug_all=0.0325479;avsnp147=rs2130262;Kaviar_AF=0.0083375;Kaviar_AC=1289;Kaviar_AN=154602;ExAC_ALL=0.0085;ExAC_AFR=0.0917;ExAC_AMR=0.0044;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0066;ExAC_SAS=0.0003;CLNALLELEID=135849;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.217;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.858;MutationTaster_pred=D;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=-0.7;PROVEAN_pred=N;VEST3_score=0.097;CADD_raw=1.804;CADD_phred=15.01;DANN_score=0.659;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.031;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.84;phyloP7way_vertebrate=-0.029;phyloP20way_mammalian=0.100;phastCons7way_vertebrate=0.937;phastCons20way_mammalian=0.844;SiPhy_29way_logOdds=16.567;GDI_full_10282015=.;dpsi_max_tissue=0.1361;dpsi_zscore=0.583;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0933;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0253;gnomAD_genome_AFR=0.0882;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-865.069,0,-1018.76:1046:524:499:13587:15392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152658062 . C G 11552.64 . AB=0.479949;ABP=8.49634;AC=7;AF=0.5;AN=14;AO=754;CIGAR=1X;DP=8884;DPB=1571;DPRA=0;EPP=113.646;EPPR=16.1789;GTI=0;LEN=1;MEANALT=3;MQM=38.3833;MQMR=38.4864;NS=1;NUMALT=1;ODDS=3349.27;PAIRED=0.964191;PAIREDR=0.939356;PAO=0;PQA=0;PQR=0;PRO=0;QA=23162;QR=25356;RO=808;RPL=338;RPP=20.5318;RPPR=6.891;RPR=416;RUN=1;SAF=369;SAP=3.74756;SAR=385;SF=0,1;SRF=378;SRP=10.2772;SRR=430;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.G12229C:p.D4077H,SYNE1:NM_182961:exon76:c.G12442C:p.D4148H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0238;esp6500siv2_ea=0.0326;esp6500siv2_all=0.0238;esp6500siv2_ea=0.0326;1000g2015aug_all=0.0123802;avsnp147=rs117501809;Kaviar_AF=0.0265068;Kaviar_AC=4098;Kaviar_AN=154602;ExAC_ALL=0.0272;ExAC_AFR=0.0062;ExAC_AMR=0.0103;ExAC_EAS=0.0002;ExAC_FIN=0.0315;ExAC_NFE=0.0358;ExAC_OTH=0.0275;ExAC_SAS=0.0296;CLNALLELEID=135848;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.075;MutationAssessor_pred=M;FATHMM_score=0.53;FATHMM_pred=T;PROVEAN_score=-2.74;PROVEAN_pred=D;VEST3_score=0.348;CADD_raw=6.665;CADD_phred=32;DANN_score=0.980;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.509;MetaSVM_pred=T;MetaLR_score=0.290;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.47;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=19.325;GDI_full_10282015=.;dpsi_max_tissue=-1.0501;dpsi_zscore=-1.499;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0255;gnomAD_exome_AFR=0.0059;gnomAD_exome_AMR=0.0094;gnomAD_exome_ASJ=0.0088;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0314;gnomAD_exome_NFE=0.0357;gnomAD_exome_OTH=0.0244;gnomAD_exome_SAS=0.0313;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0050;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0260;gnomAD_genome_NFE=0.0318;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1476.28,0,-1645.69:1571:808:754:23162:25356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-611.509,0,-789.941:749:392:350:10166:12329 . 0/1:-709.693,0,-875.401:813:419:383:11340:13250 . . . . . . . . 0/1:-1537.53,0,-1576.49:1604:782:798:23897:24473 . . . 0/1:-1117.8,0,-1531.28:1393:754:617:18233:23565 . . . . . 0/1:-1274.35,0,-1483.43:1403:714:661:20064:22529 . . . . . . . . . . . . . . . 0/1:-1409.02,0,-1417.92:1351:667:663:20995:21129:667,663 . . . . . . . . . . . . chr6 152658141 . CT AC,CC 12982.30 . AB=0.469081,0.462898;ABP=12.4098,16.5456;AC=19,11;AF=0.5,0.5;AN=34;AO=531,524;CIGAR=2X,1M1X;DP=14822;DPB=1142;DPRA=0,0;EPP=51.5965,19.9843;EPPR=11.1951;GTI=0;LEN=2,1;MEANALT=10,10;MQM=36.226,38.687;MQMR=33.6154;NS=1;NUMALT=2;ODDS=1851.27;PAIRED=0.966102,0.984733;PAIREDR=1;PAO=11,4.5;PQA=266,121;PQR=121;PRO=4.5;QA=13781,14769;QR=350;RO=13;RPL=297,305;RPP=19.2411,33.6596;RPPR=7.18621;RPR=234,219;RUN=1,1;SAF=174,165;SAP=139.96,158.975;SAR=357,359;SF=0;SRF=3;SRP=11.1951;SRR=10;TYPE=mnp,snp;technology.ILLUMINA=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=SYNE1:NM_033071:exon75:c.12149_12150GT,SYNE1:NM_182961:exon76:c.12362_12363GT;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386707192;Kaviar_AF=0.0029754;Kaviar_AC=460;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=214106;CLNDN=Cardiomyopathy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SYNE1:NM_033071:exon75:c.12149delA:p.K4050fs,SYNE1:NM_182961:exon76:c.12362delA:p.K4121fs;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . 1/2:-2055.83,-1069.62,-924.909,-971.121,0,-832.461:1132:13:531,524:13781,14769:350 . 1/1:-1124.45,-153.081,0,.,.,.:573:3:526,.:13344,.:83 0/1:-686.067,0,-971.477,.,.,.:1033:495:440,.:11438,.:14642 . . . . . 1/2:-1351.87,-664.45,-597.927,-645.179,0,-584.21:827:27:381,370:9771,10213:734 . . . 1/2:-1415.79,-708.15,-602.574,-700.169,0,-600.855:782:5:378,360:9796,9764:139 1/2:-2342.51,-1158.79,-993.817,-1162.6,0,-1013.72:1283:15:625,580:16348,16099:435 . . . . 1/2:-1265.6,-671.554,-581.632,-584.805,0,-494.476:731:12:337,343:8519,9484:288 1/2:-1886.6,-979.518,-840.074,-899.04,0,-760.569:1062:10:494,497:12781,13674:242 . . . . . . 1/2:-1365.81,-720.301,-622.149,-636.361,0,-537.516:780:9:357,368:9054,10057:219 . . . . 1/2:-1326.17,-739.046,-661.515,-570.095,0,-482.744:739:14:321,361:8237,10248:395 . . . . . . . . . . . . 1/2:-1832.53,-915.503,-779.219,-904.997,0,-781.041:1018:10:496,462:12631,12774:279 . . . . . . . 1/2:-1401.8,-743.521,-633.611,-658.401,0,-548.799:778:5:363,369:9331,10255:88 . 0/1:-694.231,0,-864.392,.,.,.:918:425:416,.:11115,.:12862 0/1:-422.834,0,-525.027,.,.,.:593:282:265,.:6875,.:8313 . . . . . 1/2:-1071.59,-578.791,-517.685,-473.228,0,-408.574:633:18:282,298:7059,8375:442 . . . . . . . . . . . 0/1:-915.695,0,-951.412,.,.,.:1132:492:540,.:14465,.:14674 . . . . . . . . . . . . . . . 1/1:-1544.87,-207.01,0,.,.,.:808:3:714,.:18571,.:68 . . . . . . . . . . . . . . . . . . . . . . . . chr6 152658142 . T C 13477.47 . AB=0.476959;ABP=7.01301;AC=129;AF=0.5;AN=178;AO=414;CIGAR=1X;DP=83001;DPB=868;DPRA=0;EPP=25.858;EPPR=98.1846;GTI=0;LEN=1;MEANALT=3;MQM=38.099;MQMR=39.0284;NS=1;NUMALT=1;ODDS=1638.34;PAIRED=0.978261;PAIREDR=0.985782;PAO=0;PQA=0;PQR=0;PRO=0;QA=11662;QR=12368;RO=422;RPL=246;RPP=34.9215;RPPR=11.2434;RPR=168;RUN=1;SAF=136;SAP=108.773;SAR=278;SF=0,1;SRF=154;SRP=69.8834;SRR=268;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.A12149G:p.K4050R,SYNE1:NM_182961:exon76:c.A12362G:p.K4121R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.7882;esp6500siv2_ea=0.7194;esp6500siv2_all=0.7882;esp6500siv2_ea=0.7194;1000g2015aug_all=0.793131;avsnp147=rs9479297;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;ExAC_ALL=0.7547;ExAC_AFR=0.9281;ExAC_AMR=0.7058;ExAC_EAS=0.8544;ExAC_FIN=0.8368;ExAC_NFE=0.7478;ExAC_OTH=0.7673;ExAC_SAS=0.6211;CLNALLELEID=135846;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.97;MutationAssessor_pred=N;FATHMM_score=1.37;FATHMM_pred=T;PROVEAN_score=1.08;PROVEAN_pred=N;VEST3_score=0.03;CADD_raw=0.371;CADD_phred=6.360;DANN_score=0.804;fathmm-MKL_coding_score=0.179;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.969;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.48;phyloP7way_vertebrate=-0.422;phyloP20way_mammalian=0.067;phastCons7way_vertebrate=0.385;phastCons20way_mammalian=0.964;SiPhy_29way_logOdds=9.174;GDI_full_10282015=.;dpsi_max_tissue=-1.9656;dpsi_zscore=-1.890;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7493;gnomAD_exome_AFR=0.9330;gnomAD_exome_AMR=0.6978;gnomAD_exome_ASJ=0.6986;gnomAD_exome_EAS=0.8558;gnomAD_exome_FIN=0.8360;gnomAD_exome_NFE=0.7459;gnomAD_exome_OTH=0.7448;gnomAD_exome_SAS=0.6213;gnomAD_genome_ALL=0.8208;gnomAD_genome_AFR=0.9307;gnomAD_genome_AMR=0.7081;gnomAD_genome_ASJ=0.6788;gnomAD_genome_EAS=0.8488;gnomAD_genome_FIN=0.8345;gnomAD_genome_NFE=0.7642;gnomAD_genome_OTH=0.7515;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-734.879,0,-801.303:868:422:414:11662:12368 . . . . 0/1:-868.383,0,-1235.54:1203:634:521:14380:18678 1/1:-1713.8,-218.227,0:800:7:760:20542:158 0/1:-921.572,0,-864.992:1045:477:525:14604:13932 0/1:-774.727,0,-800.222:868:414:421:12162:12290 0/1:-906.088,0,-941.128:1099:508:541:14636:14916 . 0/1:-888.648,0,-854.359:990:454:509:14167:13434 1/1:-2046.85,-261.8,0:955:10:914:24588:244 0/1:-473.836,0,-832.621:788:433:320:8482:12478 . . . 1/1:-4351.19,-524.183,0:1990:23:1876:52160:587 0/1:-745.733,0,-871.692:945:471:439:12105:13692 1/1:-1364.4,-176.607,0:661:6:622:16614:149 . . 1/1:-1224.58,-153.079,0:605:8:563:15090:232 1/1:-2663.55,-336.8,0:1198:7:1134:31710:127 1/1:-2329.15,-279.793,0:1085:16:1017:28113:445 1/1:-1652.37,-211.195,0:794:7:738:20150:164 1/1:-2401.2,-301.819,0:1093:10:1051:28819:233 0/1:-979.678,0,-913.788:1073:491:554:15328:14530 . 1/1:-1711.34,-215.07,0:791:7:745:20380:127 1/1:-1883.59,-230.71,0:876:11:826:22532:277 0/1:-967.056,0,-1145.37:1234:610:571:15647:17757 0/1:-869.635,0,-900.667:1034:475:516:13999:14166 . 1/1:-2186.98,-272.973,0:1012:12:949:26010:272 1/1:-2287.77,-287.035,0:1050:5:986:27480:128 0/1:-701.256,0,-625.283:781:346:396:10982:10165 0/1:-856.699,0,-965.986:1023:492:495:13564:14895 1/1:-2042.9,-266.065,0:976:6:920:24427:177 0/1:-376.99,0,-621.761:564:300:237:6396:9137 0/1:-886.098,0,-1144.24:1188:598:543:14636:17424 1/1:-1971.24,-233.658,0:933:17:864:23643:418 0/1:-703.322,0,-993.246:984:500:434:11690:15019 1/1:-2127.78,-259.453,0:984:8:921:25697:235 0/1:-1057.51,0,-1128.79:1264:594:606:16851:17570 1/1:-2142.37,-254.815,0:993:15:935:25822:385 . 0/1:-485.238,0,-516.025:572:272:281:7761:8036 1/1:-1821.22,-225.974,0:848:8:799:21707:192 1/1:-2332.3,-294.181,0:1085:8:1023:27995:212 0/1:-821.295,0,-1170.97:1165:602:511:13580:17588 0/1:-710.868,0,-857.014:948:453:440:11784:13319 1/1:-2625.45,-320.822,0:1181:11:1127:31443:308 . . 0/1:-650.014,0,-808.33:846:429:383:10531:12274 . . 0/1:-413.962,0,-827.011:699:404:262:7277:12192 0/1:-756.206,0,-818.101:916:423:444:12176:12759 1/1:-1379.06,-178.244,0:662:8:621:16812:176 . . . 1/1:-2568.75,-297.647,0:1190:23:1115:31092:581 1/1:-2300.5,-284.472,0:1041:9:993:27609:224 . 1/1:-2230.52,-269.213,0:998:9:962:26725:286 0/1:-678.389,0,-669.12:777:361:382:10672:10512 0/1:-788.424,0,-852.725:976:455:481:12706:13387 1/1:-2039.77,-253.133,0:943:10:896:24509:231 1/1:-2533.03,-310.079,0:1178:12:1109:30482:316 1/1:-2589.98,-327.062,0:1188:12:1130:31113:234 1/1:-1299,-178.903,0:684:10:637:16202:213 1/1:-1870.75,-225.976,0:847:8:799:22294:209 . 1/1:-2298.83,-275.627,0:1068:16:1005:27782:401 0/1:-924.866,0,-1160.84:1218:610:551:15113:18014 . 0/1:-483.389,0,-554.659:614:301:291:7943:8641 0/1:-868.427,0,-1039.17:1125:546:532:14418:16447 0/1:-897.033,0,-998.002:1123:528:539:14753:15710 0/1:-943.117,0,-977.622:1145:531:556:15005:15524 0/1:-915.994,0,-873.258:1026:470:512:14312:13775 1/1:-1766.39,-235.642,0:887:10:827:21862:222 0/1:-745.574,0,-721.689:845:389:425:11980:11436 . 0/1:-937.875,0,-1010.51:1114:531:531:14802:15741 0/1:-403.379,0,-574.149:553:292:243:6745:8680 0/1:-892.131,0,-941.364:1072:501:527:14349:14702 1/1:-2862.89,-296.361,0:1380:46:1268:35193:1187 . 0/1:-912.755,0,-950.29:1058:504:519:14444:14797 0/1:-844.394,0,-1000.88:1051:526:488:13788:15406 1/1:-2374.03,-283.75,0:1138:17:1058:28613:485 . 1/1:-2046.96,-225.912,0:787:2:767:23756:63:2,767 0/1:-714.098,0,-839.501:763:396:351:10864:12302:396,351 0/1:-962.306,0,-893.105:909:437:455:14270:13428:437,455 0/1:-600.284,0,-392.006:474:197:273:8563:6141:197,273 1/1:-1889.95,-204.919,0:735:7:717:22042:171:7,717 0/1:-835.983,0,-831.98:832:407:412:12578:12486:407,412 . 0/1:-921.46,0,-884.224:882:429:443:13739:13294:429,443 0/1:-660.828,0,-731.85:695:349:331:10085:10782:349,331 0/1:-727.721,0,-584.154:665:303:348:10745:9056:303,348 0/1:-852.42,0,-846.432:828:407:403:12660:12544:407,403 1/1:-1791.51,-184.403,0:699:9:682:20941:268:9,682 1/1:-1893.35,-210.781,0:737:4:721:22119:96:4,721 0/1:-667.028,0,-777.382:723:369:339:10281:11374:369,339 0/1:-691.637,0,-707.924:683:331:342:10390:10569:331,342 0/1:-703.015,0,-781.088:740:370:350:10705:11541:370,350 0/1:-902.071,0,-827.641:864:402:440:13324:12522:402,440 1/1:-1691.94,-188.499,0:654:2:641:19694:57:2,641 1/1:-1801.63,-194.755,0:698:3:673:20841:99:3,673 1/1:-1819.06,-193.962,0:725:9:701:21480:236:9,701 chr6 152660451 . G A 7848.67 . AB=0.471675;ABP=8.66896;AC=23;AF=0.5;AN=46;AO=383;CIGAR=1X;DP=18214;DPB=812;DPRA=0;EPP=20.161;EPPR=38.8839;GTI=0;LEN=1;MEANALT=3;MQM=40.1514;MQMR=40.1703;NS=1;NUMALT=1;ODDS=1791.25;PAIRED=0.963446;PAIREDR=0.980815;PAO=0;PQA=0;PQR=0;PRO=0;QA=11951;QR=13250;RO=417;RPL=201;RPP=5.05704;RPPR=42.4249;RPR=182;RUN=1;SAF=166;SAP=17.757;SAR=217;SF=0,1;SRF=172;SRP=30.7604;SRR=245;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon74:c.C12063T:p.L4021L,SYNE1:NM_182961:exon75:c.C12276T:p.L4092L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1162;esp6500siv2_ea=0.1315;esp6500siv2_all=0.1162;esp6500siv2_ea=0.1315;1000g2015aug_all=0.0732827;avsnp147=rs71575926;Kaviar_AF=0.113368;Kaviar_AC=17527;Kaviar_AN=154602;ExAC_ALL=0.1142;ExAC_AFR=0.0882;ExAC_AMR=0.0547;ExAC_EAS=0.0291;ExAC_FIN=0.2602;ExAC_NFE=0.1418;ExAC_OTH=0.1344;ExAC_SAS=0.0457;CLNALLELEID=135845;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1019;dpsi_zscore=0.489;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1143;gnomAD_exome_AFR=0.0900;gnomAD_exome_AMR=0.0552;gnomAD_exome_ASJ=0.0457;gnomAD_exome_EAS=0.0305;gnomAD_exome_FIN=0.2579;gnomAD_exome_NFE=0.1438;gnomAD_exome_OTH=0.1298;gnomAD_exome_SAS=0.0464;gnomAD_genome_ALL=0.1339;gnomAD_genome_AFR=0.0889;gnomAD_genome_AMR=0.0597;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0383;gnomAD_genome_FIN=0.2519;gnomAD_genome_NFE=0.1464;gnomAD_genome_OTH=0.1762;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-789.36,0,-898.581:812:417:383:11951:13250 . . . . . . . . . 0/1:-529.296,0,-619.502:583:298:278:8346:9332 . . . 0/1:-837.627,0,-820.92:781:379:391:12451:12338 0/1:-824.508,0,-958.166:860:442:407:12580:14343 . 0/1:-622.391,0,-704.845:631:326:299:9398:10420 . . . . 0/1:-841.292,0,-755.392:756:358:392:12413:11461 . . 0/1:-884.32,0,-930.636:846:415:421:13303:13685 . . 0/1:-1030.93,0,-1104.72:1014:509:490:15522:16375 0/1:-683.196,0,-898.45:740:400:333:10624:13022 . 0/1:-911.044,0,-885.675:845:412:426:13482:13265 . . . 0/1:-438.914,0,-520.62:456:236:215:6683:7726 0/1:-710.484,0,-879.261:750:395:346:10861:12862 . . . 0/1:-1112.22,0,-1077.22:1033:500:526:16517:16272 . . . . . . . . . . . . . . 0/1:-834.122,0,-956.529:844:426:406:12734:14008 . . 0/1:-701.484,0,-936.907:778:424:343:10911:13580 0/1:-1212.21,0,-1236.68:1160:576:574:18190:18275 . . . . . . . . . . . 0/1:-796.768,0,-969.711:860:447:400:12285:14398 . 0/1:-786.31,0,-759.14:745:359:379:11771:11508 . . 0/1:-510.07,0,-592.931:533:273:255:7890:8909 . . . . . 0/1:-933.763,0,-1140.43:985:521:452:14183:16700 . . . . 0/1:-451.886,0,-602.175:483:267:211:6888:8619:267,211 . 0/1:-1079.97,0,-992.524:958:453:494:15804:14776:453,494 . . 0/1:-894.091,0,-787.785:761:353:401:12844:11679:353,401 . . . . . . . . . . . chr6 152665261 . C A 19753.31 . AB=0;ABP=0;AC=146;AF=1;AN=194;AO=1587;CIGAR=1X;DP=125192;DPB=1664;DPRA=0;EPP=167.764;EPPR=75.4926;GTI=0;LEN=1;MEANALT=3;MQM=37.5923;MQMR=38.0517;NS=1;NUMALT=1;ODDS=1850.61;PAIRED=0.959042;PAIREDR=0.965517;PAO=0;PQA=0;PQR=0;PRO=0;QA=44714;QR=1092;RO=58;RPL=862;RPP=28.6917;RPPR=10.3484;RPR=725;RUN=1;SAF=882;SAP=45.8774;SAR=705;SF=0,1;SRF=37;SRP=12.5947;SRR=21;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon73:c.G11967T:p.E3989D,SYNE1:NM_182961:exon74:c.G12180T:p.E4060D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5673;esp6500siv2_ea=0.6178;esp6500siv2_all=0.5673;esp6500siv2_ea=0.6178;1000g2015aug_all=0.545527;avsnp147=rs4645434;Kaviar_AF=0.575245;Kaviar_AC=88934;Kaviar_AN=154602;ExAC_ALL=0.5761;ExAC_AFR=0.4471;ExAC_AMR=0.5970;ExAC_EAS=0.6419;ExAC_FIN=0.5452;ExAC_NFE=0.6031;ExAC_OTH=0.5771;ExAC_SAS=0.5118;CLNALLELEID=135844;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.203;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.054;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_pred=T;PROVEAN_score=-1.02;PROVEAN_pred=N;VEST3_score=0.011;CADD_raw=0.235;CADD_phred=5.046;DANN_score=0.149;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.976;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-1.25;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.863;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=0.019;SiPhy_29way_logOdds=10.963;GDI_full_10282015=.;dpsi_max_tissue=3.8654;dpsi_zscore=2.407;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5829;gnomAD_exome_AFR=0.4410;gnomAD_exome_AMR=0.6001;gnomAD_exome_ASJ=0.6528;gnomAD_exome_EAS=0.6416;gnomAD_exome_FIN=0.5473;gnomAD_exome_NFE=0.6078;gnomAD_exome_OTH=0.5857;gnomAD_exome_SAS=0.5142;gnomAD_genome_ALL=0.5601;gnomAD_genome_AFR=0.4517;gnomAD_genome_AMR=0.6160;gnomAD_genome_ASJ=0.66;gnomAD_genome_EAS=0.6582;gnomAD_genome_FIN=0.5561;gnomAD_genome_NFE=0.6094;gnomAD_genome_OTH=0.5418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-3633.24,-401.613,0:1664:58:1587:44714:1092 1/1:-2912.33,-328.434,0:1304:35:1255:35212:698 1/1:-1693.37,-186.238,0:781:27:746:20666:552 1/1:-3047.85,-361.086,0:1404:35:1350:37482:645 . 1/1:-2402.62,-278.212,0:1122:39:1074:29594:711 0/1:-1215.26,0,-1377.03:1456:719:721:19615:21709 0/1:-1050.06,0,-1081.39:1201:579:610:16966:17345 0/1:-1228.45,0,-1582.75:1579:826:737:20292:24591 1/1:-2674.11,-286.233,0:1237:44:1175:32967:974 1/1:-2830.17,-307.266,0:1295:49:1229:34551:928 0/1:-1071.96,0,-1107.25:1199:581:601:16827:17584 0/1:-1017.81,0,-1020.96:1222:575:632:16712:17110 0/1:-1002.35,0,-1051.46:1130:548:571:15965:16480 1/1:-4291.08,-470.706,0:1903:60:1823:52271:1145 . 1/1:-5890.37,-658.389,0:2615:70:2519:71294:1448 0/1:-970.58,0,-1363.2:1290:693:588:16449:20820 1/1:-2303.32,-267.939,0:1022:24:984:27978:399 1/1:-2286.94,-259.736,0:1042:30:996:27735:617 1/1:-3248.46,-368.06,0:1453:37:1397:39470:736 0/1:-542.106,0,-928.6:815:465:339:9300:14003 1/1:-3815.68,-424.324,0:1693:44:1630:46483:928 1/1:-3071.34,-332.014,0:1423:57:1350:37593:1062 1/1:-2477.04,-292.206,0:1154:38:1104:30784:710 0/1:-1009.1,0,-1405.7:1333:716:608:16881:21572 . 1/1:-2275.72,-271.602,0:1057:33:1015:28510:620 . 1/1:-2677.43,-312.684,0:1207:29:1160:32782:577 0/1:-1243.63,0,-1883.96:1739:957:765:21330:28716 0/1:-1230.88,0,-1409.9:1461:729:720:19795:22037 1/1:-2069.72,-238.666,0:966:31:920:25553:586 . 1/1:-3500.92,-398.828,0:1601:47:1536:42450:940 0/1:-978.258,0,-1301.47:1250:667:578:16298:19965 . 1/1:-2971.06,-338.75,0:1376:48:1310:36414:851 0/1:-728.442,0,-733.33:823:392:421:11576:11628 0/1:-1310.86,0,-1670.98:1659:864:777:21350:25743 0/1:-1064.03,0,-1228.14:1283:653:614:17204:19190 1/1:-2996.11,-340.247,0:1307:35:1263:36344:616 0/1:-1063.89,0,-1391.88:1363:706:640:17556:21238 0/1:-1542.69,0,-1682.23:1764:875:873:24334:26096 1/1:-3061.69,-354.771,0:1402:39:1350:37783:782 1/1:-3112.49,-351.191,0:1406:47:1349:38085:856 . 0/1:-1002.8,0,-1052.49:1135:568:556:15984:16745 1/1:-3689.78,-399.044,0:1642:49:1580:44854:1056 1/1:-3534.35,-409.494,0:1548:33:1506:42881:619 1/1:-3071.5,-337.898,0:1438:56:1361:38001:1100 0/1:-1474.65,0,-1590.19:1675:820:841:23404:24801 . 1/1:-2168.58,-250.086,0:1020:33:977:27236:641 0/1:-925.815,0,-1110.25:1099:561:530:14752:17173 0/1:-1124.73,0,-1310.64:1339:676:649:18151:20439 0/1:-723.222,0,-759.814:858:414:436:11926:12474 1/1:-2104.47,-246.841,0:957:26:920:25691:479 0/1:-1209.98,0,-1213.95:1347:656:685:19093:19510 1/1:-2027.47,-240.206,0:991:34:940:25222:643 0/1:-1255.72,0,-2061.94:1854:1042:794:21999:31146 0/1:-972.675,0,-1217.3:1207:628:567:15718:18675 1/1:-2231.14,-260.654,0:1053:33:1007:27558:653 1/1:-3817.88,-424.364,0:1700:49:1638:46515:1009 1/1:-3413.27,-401.488,0:1508:35:1464:41291:596 . 0/1:-1253.54,0,-1370.39:1455:714:728:19996:21550 0/1:-1057.87,0,-1003.5:1162:536:616:16882:15960 0/1:-1206.77,0,-1208.28:1322:647:669:18876:19256 0/1:-1105.33,0,-1476.8:1413:757:638:18055:22724 0/1:-1457.55,0,-1729.42:1708:885:813:23289:26663 1/1:-3462.45,-404.322,0:1549:40:1496:42029:720 1/1:-2033.28,-259.591,0:1000:30:956:25640:501 1/1:-2808.8,-328.11,0:1213:25:1180:33831:424 1/1:-3228.83,-361.552,0:1515:58:1442:39704:1167 1/1:-3116.75,-357.867,0:1410:34:1361:38055:749 0/1:-1426.08,0,-1545.94:1689:831:841:22985:24589 0/1:-768.177,0,-957.777:960:493:457:12702:14780 1/1:-1955.98,-212.943,0:893:36:847:24030:681 0/1:-1220.97,0,-1381.08:1465:730:722:20081:21758 . 0/1:-1305.29,0,-1532.53:1612:812:778:21510:24150 0/1:-1117.18,0,-1264.82:1345:690:645:18163:20035 1/1:-2483.54,-280.463,0:1173:46:1114:30726:869 . . 0/1:-1188.31,0,-1382.99:1429:734:681:19059:21650 0/1:-586.763,0,-822.637:787:421:361:9637:12536 0/1:-1125,0,-1334.55:1367:695:662:18228:20505 0/1:-1692.43,0,-1727.52:1895:926:950:26744:27455 1/1:-2601.8,-276.128,0:1198:44:1135:32026:915 1/1:-3343.97,-363.945,0:1504:46:1444:40633:963 0/1:-1279.21,0,-1408.63:1554:779:761:20805:22756 . . 1/1:-2613.37,-276.537,0:1017:16:996:30698:321:16,996 0/1:-982.32,0,-1127.99:1018:524:488:14965:16565:524,488 0/1:-1269.51,0,-1239.14:1183:578:597:18719:18366:578,597 . 1/1:-2385.57,-257.252,0:931:13:914:27953:244:13,914 0/1:-1209.46,0,-1210.22:1161:573:585:18073:18035:573,585 . 0/1:-1154.84,0,-1072.74:1105:529:572:17294:16296:529,572 . 0/1:-1053.12,0,-1112.93:1044:530:506:15878:16590:530,506 . 1/1:-1990.21,-205.473,0:777:15:756:23344:333:15,756 1/1:-2373.11,-234.267,0:934:24:906:28172:561:24,906 0/1:-862.946,0,-1232.51:1031:578:443:13625:17852:578,443 1/1:-2569.26,-254.569,0:1013:26:981:30659:569:26,981 0/1:-983.101,0,-988.558:969:479:483:14770:14906:479,483 1/1:-2853.79,-282.583,0:1144:32:1103:33836:676:32,1103 1/1:-2389.34,-247.446,0:927:19:900:28118:360:19,900 0/1:-890.909,0,-947.017:875:439:432:13555:13877:439,432 1/1:-2739.31,-273.87,0:1073:25:1045:32367:543:25,1045 chr6 152668211 . A G 8791.55 . AB=0.485785;ABP=4.43021;AC=3;AF=0.5;AN=6;AO=393;CIGAR=1X;DP=3063;DPB=809;DPRA=0;EPP=94.9581;EPPR=85.2481;GTI=0;LEN=1;MEANALT=3;MQM=38.8422;MQMR=39.9532;NS=1;NUMALT=1;ODDS=1668.72;PAIRED=0.969466;PAIREDR=0.958128;PAO=0;PQA=0;PQR=0;PRO=0;QA=12182;QR=13163;RO=406;RPL=85;RPP=277.782;RPPR=326.677;RPR=308;RUN=1;SAF=282;SAP=164.578;SAR=111;SF=0;SRF=277;SRP=120.163;SRR=129;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.T11848C:p.C3950R,SYNE1:NM_182961:exon73:c.T12061C:p.C4021R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0151;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0151;1000g2015aug_all=0.00539137;avsnp147=rs111449472;Kaviar_AF=0.0110801;Kaviar_AC=1713;Kaviar_AN=154602;ExAC_ALL=0.0113;ExAC_AFR=0.0022;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0.0129;ExAC_NFE=0.0170;ExAC_OTH=0.0088;ExAC_SAS=0.0044;CLNALLELEID=252187;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=1.43;FATHMM_pred=T;PROVEAN_score=-4.93;PROVEAN_pred=D;VEST3_score=0.407;CADD_raw=6.385;CADD_phred=29.5;DANN_score=0.958;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.139;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.71;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.987;GDI_full_10282015=.;dpsi_max_tissue=-0.1160;dpsi_zscore=-0.496;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0102;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0038;gnomAD_exome_ASJ=0.0098;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0118;gnomAD_exome_NFE=0.0161;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0044;gnomAD_genome_ALL=0.0104;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-787.604,0,-883.733:809:406:393:12182:13163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1068.46,0,-1369.14:1167:617:544:16893:20169 . . . . 0/1:-988.706,0,-1199.31:1087:563:512:15854:17943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152668215 . C T 8466.13 . AB=0.477467;ABP=6.63118;AC=3;AF=0.5;AN=6;AO=392;CIGAR=1X;DP=2671;DPB=821;DPRA=0;EPP=134.384;EPPR=57.7304;GTI=0;LEN=1;MEANALT=3;MQM=39.1071;MQMR=38.3658;NS=1;NUMALT=1;ODDS=1717.55;PAIRED=0.969388;PAIREDR=0.940618;PAO=0;PQA=0;PQR=0;PRO=0;QA=12655;QR=13769;RO=421;RPL=70;RPP=354.789;RPPR=164.602;RPR=322;RUN=1;SAF=289;SAP=194.654;SAR=103;SF=0;SRF=290;SRP=133.407;SRR=131;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.G11844A:p.A3948A,SYNE1:NM_182961:exon73:c.G12057A:p.A4019A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00479233;avsnp147=rs144596829;Kaviar_AF=0.0094565;Kaviar_AC=1462;Kaviar_AN=154602;ExAC_ALL=0.0092;ExAC_AFR=0.0022;ExAC_AMR=0.0066;ExAC_EAS=0;ExAC_FIN=0.0104;ExAC_NFE=0.0133;ExAC_OTH=0.0099;ExAC_SAS=0.0031;CLNALLELEID=135842;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0252;dpsi_zscore=-0.137;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0089;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0064;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0102;gnomAD_exome_NFE=0.0133;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0031;gnomAD_genome_ALL=0.0074;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0113;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-825.256,0,-895.431:821:421:392:12655:13769 . . . . . . . . . . . . . . . . . . . . 0/1:-743.29,0,-862.287:776:398:367:11589:13131 . 0/1:-1196.41,0,-1132.35:1074:524:542:17766:17107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152668272 . C T 10836.40 . AB=0.528024;ABP=9.94748;AC=1;AF=0.5;AN=2;AO=537;CIGAR=1X;DP=1017;DPB=1017;DPRA=0;EPP=9.80778;EPPR=19.1273;GTI=0;LEN=1;MEANALT=3;MQM=38.987;MQMR=38.7399;NS=1;NUMALT=1;ODDS=2052.67;PAIRED=0.949721;PAIREDR=0.982942;PAO=0;PQA=0;PQR=0;PRO=0;QA=16782;QR=14640;RO=469;RPL=267;RPP=3.04669;RPPR=10.0525;RPR=270;RUN=1;SAF=394;SAP=257.768;SAR=143;SF=0;SRF=353;SRP=263.073;SRR=116;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.G11787A:p.A3929A,SYNE1:NM_182961:exon73:c.G12000A:p.A4000A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0080;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0080;1000g2015aug_all=0.00239617;avsnp147=rs148493518;Kaviar_AF=0.0053233;Kaviar_AC=823;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0010;ExAC_AMR=0.0025;ExAC_EAS=0.0001;ExAC_FIN=0.0153;ExAC_NFE=0.0076;ExAC_OTH=0.0132;ExAC_SAS=0.0010;CLNALLELEID=195815;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0200;dpsi_zscore=0.135;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0058;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0025;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0156;gnomAD_exome_NFE=0.0077;gnomAD_exome_OTH=0.0071;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0063;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0169;gnomAD_genome_NFE=0.0079;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1119.76,0,-929.861:1017:469:537:16782:14640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152671384 . C G 18069.10 . AB=0.50939;ABP=4.31522;AC=1;AF=0.5;AN=2;AO=868;CIGAR=1X;DP=1704;DPB=1704;DPRA=0;EPP=15.2686;EPPR=55.8512;GTI=0;LEN=1;MEANALT=3;MQM=40.0323;MQMR=40.0416;NS=1;NUMALT=1;ODDS=3781.9;PAIRED=0.961982;PAIREDR=0.974296;PAO=0;PQA=0;PQR=0;PRO=0;QA=27363;QR=25801;RO=817;RPL=608;RPP=305.976;RPPR=409.347;RPR=260;RUN=1;SAF=449;SAP=5.26183;SAR=419;SF=1;SRF=416;SRP=3.60832;SRR=401;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon72:c.G11820C:p.Q3940H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs140054849;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.118e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.492e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.112;SIFT_pred=T;Polyphen2_HDIV_score=0.293;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.097;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.155;MutationAssessor_pred=L;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.336;CADD_raw=2.098;CADD_phred=16.84;DANN_score=0.924;fathmm-MKL_coding_score=0.892;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.046;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=2.1;phyloP7way_vertebrate=-0.032;phyloP20way_mammalian=-0.345;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.923;SiPhy_29way_logOdds=6.304;GDI_full_10282015=.;dpsi_max_tissue=-0.1315;dpsi_zscore=-0.537;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.849e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.228e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1848.24,0,-1698.82:1704:817:868:27363:25801:817,868 . . . . . . . chr6 152671475 . A C 12492.74 . AB=0.524286;ABP=6.59633;AC=148;AF=0.5;AN=196;AO=367;CIGAR=1X;DP=75938;DPB=700;DPRA=0;EPP=10.2584;EPPR=3.11753;GTI=0;LEN=1;MEANALT=3;MQM=36.9155;MQMR=38.7531;NS=1;NUMALT=1;ODDS=1426.77;PAIRED=0.975477;PAIREDR=0.962963;PAO=0;PQA=0;PQR=0;PRO=0;QA=10451;QR=9951;RO=324;RPL=154;RPP=23.6067;RPPR=30.462;RPR=213;RUN=1;SAF=170;SAP=7.32366;SAR=197;SF=0,1;SRF=152;SRP=5.69113;SRR=172;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5962;esp6500siv2_ea=0.6098;esp6500siv2_all=0.5962;esp6500siv2_ea=0.6098;1000g2015aug_all=0.58746;avsnp147=rs9478320;Kaviar_AF=0.578227;Kaviar_AC=89395;Kaviar_AN=154602;ExAC_ALL=0.5846;ExAC_AFR=0.5668;ExAC_AMR=0.6034;ExAC_EAS=0.6085;ExAC_FIN=0.5454;ExAC_NFE=0.6003;ExAC_OTH=0.5848;ExAC_SAS=0.5224;CLNALLELEID=252188;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-18.4380;dpsi_zscore=-3.159;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5887;gnomAD_exome_AFR=0.5644;gnomAD_exome_AMR=0.6048;gnomAD_exome_ASJ=0.6467;gnomAD_exome_EAS=0.6079;gnomAD_exome_FIN=0.5478;gnomAD_exome_NFE=0.6049;gnomAD_exome_OTH=0.5901;gnomAD_exome_SAS=0.5249;gnomAD_genome_ALL=0.5913;gnomAD_genome_AFR=0.5714;gnomAD_genome_AMR=0.6184;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.6219;gnomAD_genome_FIN=0.5573;gnomAD_genome_NFE=0.6074;gnomAD_genome_OTH=0.5490;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-654.995,0,-630.13:700:324:367:10451:9951 1/1:-1963.3,-198.208,0:881:33:843:24107:805 1/1:-1645.76,-179.45,0:738:21:708:20127:471 1/1:-1182.01,-135.465,0:505:9:495:14382:183 1/1:-1784.66,-204.486,0:784:16:758:21951:334 . 1/1:-1701.8,-191.788,0:757:20:728:20709:377 0/1:-751.506,0,-808.55:842:415:418:12006:12779 0/1:-683.327,0,-665.327:719:339:371:10741:10409 0/1:-781.707,0,-801.607:843:410:423:12079:12482 1/1:-1655.45,-186.397,0:724:18:698:20041:345 1/1:-1648.01,-187.552,0:731:20:706:20132:449 0/1:-587.979,0,-791.795:726:385:333:9643:12088 0/1:-565.617,0,-531.631:625:292:328:9269:8787 0/1:-563.049,0,-526.187:606:282:320:8964:8496 1/1:-2343.98,-253.118,0:1010:28:977:28534:582 0/1:-439.285,0,-563.261:553:292:257:7365:8904 1/1:-3315.81,-344.971,0:1436:42:1379:40849:999 0/1:-641.456,0,-795.074:771:398:363:10452:12244 1/1:-1185.78,-138.954,0:549:17:522:14748:332 1/1:-1358.89,-144.471,0:601:18:578:16913:476 1/1:-1971.27,-199.074,0:856:31:816:24074:714 0/1:-382.332,0,-384.532:449:211:229:6412:6418 1/1:-2277.44,-247.671,0:1015:33:971:28127:720 1/1:-2076.82,-233.322,0:910:26:874:25290:446 1/1:-1181.83,-144.182,0:556:15:537:14716:283 0/1:-756.626,0,-774.069:787:385:396:11728:12108 . 1/1:-1188.77,-145.823,0:537:10:519:14793:175 . 1/1:-1771.05,-187.533,0:787:27:753:21747:636 0/1:-995.891,0,-902.965:988:453:520:15453:14073 0/1:-772.673,0,-868.928:903:449:442:12507:13609 1/1:-1468.21,-168.875,0:624:11:606:17787:240 . 1/1:-2051.29,-238.732,0:896:18:873:25083:351 . . 1/1:-1745.27,-204.747,0:772:15:748:21520:301 0/1:-556.411,0,-545.59:599:288:303:8824:8651 0/1:-869.545,0,-966.618:964:486:473:13995:15058 0/1:-724.355,0,-632.094:709:326:377:11244:10030 1/1:-1807.74,-200.775,0:799:24:763:22174:451 0/1:-791.049,0,-732.322:806:375:426:12440:11513 0/1:-788.121,0,-1022.04:967:514:443:12671:15551 1/1:-1921.92,-220.741,0:821:18:796:23149:281 1/1:-1773.05,-198.515,0:768:19:742:21411:386 . 0/1:-585.258,0,-600.65:651:311:331:9340:9404 1/1:-2210.17,-265.096,0:937:12:917:26832:203 1/1:-1881.03,-211.043,0:829:23:797:23050:462 1/1:-1541.11,-185.645,0:700:19:672:19081:370 0/1:-820.243,0,-972.85:949:474:460:13291:14734 . 1/1:-1226.65,-150.39,0:559:13:540:15231:209 0/1:-510.491,0,-698.573:636:342:287:8476:10615 0/1:-572.917,0,-890.909:805:445:354:9867:13639 0/1:-344.134,0,-409.797:426:213:202:5691:6469 1/1:-1369.82,-161.856,0:601:12:582:16608:222 0/1:-616.143,0,-952.888:834:461:360:10238:14316 1/1:-1086.45,-129.92,0:484:11:471:13355:185 0/1:-756.785,0,-906.662:894:457:430:12374:14082 0/1:-658.032,0,-789.286:749:383:356:10612:12022 1/1:-1169.19,-143.385,0:548:12:525:14825:208 1/1:-2292.93,-258.21,0:1007:26:971:28157:487 1/1:-1836.65,-200.774,0:792:23:758:22499:400 . 0/1:-658.336,0,-940.042:839:456:373:11007:14295 0/1:-502.322,0,-658.119:639:332:298:8283:10238 0/1:-780.483,0,-917.585:958:484:462:12822:14336 0/1:-698.908,0,-759.073:775:384:385:10993:11755 0/1:-780.84,0,-966.697:921:475:432:12620:14580 1/1:-2124.6,-236.363,0:900:21:871:25856:419 1/1:-1155.08,-139.58,0:530:12:515:14484:215 1/1:-1555.47,-174.66,0:672:14:651:18835:340 1/1:-1989.82,-209.943,0:887:26:850:24605:657 1/1:-2120.32,-239.192,0:942:23:909:25958:495 0/1:-813.184,0,-942.948:948:476:454:13081:14607 0/1:-506.034,0,-543.066:580:291:278:8108:8547 1/1:-1368.93,-139.625,0:592:18:569:16713:446 0/1:-741.166,0,-778:822:404:407:11784:12556 . 0/1:-727.188,0,-918.015:903:466:423:11963:14059 0/1:-561.537,0,-811.585:733:398:326:9457:12328 1/1:-1474.85,-170.255,0:676:16:655:18595:385 . . 0/1:-770.577,0,-843.751:865:427:428:12329:13219 0/1:-522.281,0,-398.886:489:215:269:8046:6529 0/1:-655.473,0,-818.406:797:410:378:10570:12547 0/1:-1129.45,0,-957.118:1119:506:601:17309:15543 1/1:-1608.71,-174.118,0:710:21:677:19679:429 1/1:-2152.44,-250.856,0:890:9:875:25698:209 1/1:-1909.25,-218.456,0:821:17:798:23539:308 . . 1/1:-2256.22,-232.921,0:854:12:840:26486:279:12,840 0/1:-719.424,0,-752.091:696:344:347:10831:11108:344,347 0/1:-848.878,0,-927.508:859:436:419:12832:13783:436,419 . 1/1:-1893.74,-197.924,0:729:10:714:22344:255:10,714 0/1:-984.517,0,-903.479:940:439:493:14832:13734:439,493 . 0/1:-901.398,0,-918.098:883:442:440:13608:13730:442,440 . 0/1:-802.069,0,-685.971:739:339:398:11940:10704:339,398 . 1/1:-1656.55,-178.802,0:650:10:632:19440:169:10,632 1/1:-2151.76,-221.191,0:843:16:826:25466:401:16,826 0/1:-820.535,0,-841.59:789:396:388:12268:12501:396,388 1/1:-2240.94,-231.114,0:861:15:845:26377:346:15,845 0/1:-871.776,0,-903.618:848:424:422:13209:13472:424,422 1/1:-2367.98,-240.664,0:935:19:909:28116:456:19,909 1/1:-1916.31,-194.328,0:768:20:745:22769:418:20,745 0/1:-834.839,0,-648.703:708:319:385:12135:9996:319,385 1/1:-2074.19,-208.649,0:813:18:792:24539:419:18,792 chr6 152671865 . T G 7329.98 . AB=0.452716;ABP=31.9647;AC=6;AF=0.5;AN=12;AO=675;CIGAR=1X;DP=6428;DPB=1491;DPRA=0;EPP=94.8909;EPPR=216.348;GTI=0;LEN=1;MEANALT=3;MQM=34.803;MQMR=35.6216;NS=1;NUMALT=1;ODDS=2385.06;PAIRED=0.897778;PAIREDR=0.907268;PAO=0;PQA=0;PQR=0;PRO=0;QA=18654;QR=24014;RO=798;RPL=424;RPP=99.2918;RPPR=39.626;RPR=251;RUN=1;SAF=351;SAP=5.35549;SAR=324;SF=0;SRF=400;SRP=3.02118;SRR=398;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon71:c.A11576C:p.K3859T,SYNE1:NM_182961:exon71:c.A11621C:p.K3874T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0201;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0201;1000g2015aug_all=0.0543131;avsnp147=rs13210127;Kaviar_AF=0.0347667;Kaviar_AC=5375;Kaviar_AN=154602;ExAC_ALL=0.0364;ExAC_AFR=0.0102;ExAC_AMR=0.0383;ExAC_EAS=0.1312;ExAC_FIN=0.0234;ExAC_NFE=0.0189;ExAC_OTH=0.0352;ExAC_SAS=0.0778;CLNALLELEID=135841;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.655;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.052;Polyphen2_HVAR_pred=B;LRT_score=0.110;LRT_pred=N;MutationTaster_score=0.020;MutationTaster_pred=P;MutationAssessor_score=0.9;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_pred=N;VEST3_score=0.245;CADD_raw=2.231;CADD_phred=17.71;DANN_score=0.949;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.053;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=2.3;phyloP7way_vertebrate=0.039;phyloP20way_mammalian=0.088;phastCons7way_vertebrate=0.751;phastCons20way_mammalian=0.723;SiPhy_29way_logOdds=7.263;GDI_full_10282015=.;dpsi_max_tissue=0.5750;dpsi_zscore=1.206;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0365;gnomAD_exome_AFR=0.0095;gnomAD_exome_AMR=0.0409;gnomAD_exome_ASJ=0.0140;gnomAD_exome_EAS=0.1286;gnomAD_exome_FIN=0.0224;gnomAD_exome_NFE=0.0191;gnomAD_exome_OTH=0.0305;gnomAD_exome_SAS=0.0753;gnomAD_genome_ALL=0.0226;gnomAD_genome_AFR=0.0093;gnomAD_genome_AMR=0.0395;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.1235;gnomAD_genome_FIN=0.0241;gnomAD_genome_NFE=0.0181;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-1065.5,0,-1467.51:1491:798:675:18654:24014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-643.91,0,-954.644:947:505:428:11629:15471 . . . . . . . . . . . . . . . . . . . . 0/1:-744.847,0,-763.942:926:450:464:12881:13429 . 0/1:-750.254,0,-1495.14:1277:744:517:14105:22454 0/1:-581.142,0,-839.475:825:430:380:10455:13174 . . . . . 0/1:-749.522,0,-860.044:962:474:475:13220:14275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152671919 . GAAAAAAAAATGAGC GAAAAAAAAAATGAGC,TAAAAAAAAATGAGC 4437.77 . AB=0.326892;ABP=164.647;AC=149,0;AF=0.5;AN=204;AO=203;CIGAR=1M1I10M;DP=67169;DPB=660.182;DPRA=0;EPP=5.4171;EPPR=21.6974;GTI=0;LEN=1;MEANALT=60;MQM=35.7635;MQMR=39.1577;NS=1;NUMALT=1;ODDS=355.707;PAIRED=0.921182;PAIREDR=0.949821;PAO=23.5;PQA=525.5;PQR=525.5;PRO=23.5;QA=4118;QR=8858;RO=279;RPL=162;RPP=159.624;RPPR=204.755;RPR=41;RUN=1;SAF=65;SAP=60.0141;SAR=138;SF=0,1;SRF=88;SRP=85.5807;SRR=191;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.56889;avsnp147=rs397779868;Kaviar_AF=0.0643265;Kaviar_AC=9945;Kaviar_AN=154602;ExAC_ALL=0.5746;ExAC_AFR=0.5122;ExAC_AMR=0.5996;ExAC_EAS=0.6032;ExAC_FIN=0.5449;ExAC_NFE=0.5945;ExAC_OTH=0.5781;ExAC_SAS=0.5115;CLNALLELEID=306415;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5712;gnomAD_exome_AFR=0.5081;gnomAD_exome_AMR=0.5852;gnomAD_exome_ASJ=0.6252;gnomAD_exome_EAS=0.5977;gnomAD_exome_FIN=0.5311;gnomAD_exome_NFE=0.5914;gnomAD_exome_OTH=0.5750;gnomAD_exome_SAS=0.5112;gnomAD_genome_ALL=0.5828;gnomAD_genome_AFR=0.5302;gnomAD_genome_AMR=0.6158;gnomAD_genome_ASJ=0.6567;gnomAD_genome_EAS=0.6216;gnomAD_genome_FIN=0.5655;gnomAD_genome_NFE=0.6112;gnomAD_genome_OTH=0.5601;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7773;dpsi_zscore=1.370;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 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1/1:-688.66,-73.4699,0,.,.,.:608:19:384,.:8444,.:630:19,384 chr6 152673147 . G A 15651.16 . AB=0.51467;ABP=4.53936;AC=149;AF=0.5;AN=196;AO=421;CIGAR=1X;DP=86654;DPB=818;DPRA=0;EPP=3.6344;EPPR=3.03292;GTI=0;LEN=1;MEANALT=3;MQM=39.2494;MQMR=39.8984;NS=1;NUMALT=1;ODDS=1721.09;PAIRED=0.957245;PAIREDR=0.958333;PAO=0;PQA=0;PQR=0;PRO=0;QA=13072;QR=11980;RO=384;RPL=130;RPP=136.708;RPPR=126.875;RPR=291;RUN=1;SAF=289;SAP=130.147;SAR=132;SF=0,1;SRF=277;SRP=166.436;SRR=107;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5783;esp6500siv2_ea=0.6134;esp6500siv2_all=0.5783;esp6500siv2_ea=0.6134;1000g2015aug_all=0.565895;avsnp147=rs6908392;Kaviar_AF=0.576668;Kaviar_AC=89154;Kaviar_AN=154602;ExAC_ALL=0.5790;ExAC_AFR=0.5061;ExAC_AMR=0.5994;ExAC_EAS=0.6060;ExAC_FIN=0.5452;ExAC_NFE=0.6003;ExAC_OTH=0.5819;ExAC_SAS=0.5243;CLNALLELEID=252189;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0431;dpsi_zscore=0.266;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5837;gnomAD_exome_AFR=0.5016;gnomAD_exome_AMR=0.6014;gnomAD_exome_ASJ=0.6463;gnomAD_exome_EAS=0.6073;gnomAD_exome_FIN=0.5470;gnomAD_exome_NFE=0.6040;gnomAD_exome_OTH=0.5868;gnomAD_exome_SAS=0.5260;gnomAD_genome_ALL=0.5750;gnomAD_genome_AFR=0.5128;gnomAD_genome_AMR=0.6169;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.6222;gnomAD_genome_FIN=0.5570;gnomAD_genome_NFE=0.6083;gnomAD_genome_OTH=0.5440;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-865.578,0,-784.408:818:384:421:13072:11980 1/1:-2917.6,-327.809,0:1160:10:1136:34793:233 1/1:-2241.77,-245.317,0:876:8:860:26436:212 1/1:-1686.85,-194.365,0:664:2:660:20166:57 1/1:-2688.76,-302.065,0:1067:5:1050:32286:176 . 1/1:-2134.27,-246.178,0:857:3:840:25469:86 0/1:-1039.19,0,-989.995:1029:489:522:15881:15276 0/1:-980.567,0,-823.592:889:402:469:14611:12686 0/1:-1100.82,0,-1219.02:1146:582:544:16992:18425 1/1:-2315.59,-252.499,0:934:9:918:27775:302 1/1:-2394.96,-269.581,0:938:3:922:28299:100 0/1:-885.265,0,-888.506:919:443:458:13710:13723 0/1:-763.74,0,-647.426:738:338:386:11742:10357 0/1:-807.112,0,-716.963:771:363:393:12306:11154 1/1:-3771.53,-417.827,0:1464:7:1434:44579:189 0/1:-785.867,0,-831.145:832:411:411:12339:12805 1/1:-5179.98,-561.16,0:2012:14:1979:61653:440 0/1:-835.232,0,-903.651:874:446:412:13213:13617 1/1:-1952.06,-225.128,0:785:3:774:23296:99 1/1:-1784.25,-196.223,0:715:6:699:21427:181 1/1:-2784.49,-306.414,0:1106:8:1083:33280:263 0/1:-708.899,0,-533.627:640:283:348:10663:8533 1/1:-3157.12,-345.41,0:1224:8:1211:37534:244 1/1:-2928.9,-332.506,0:1163:6:1146:34934:172 1/1:-2076.82,-240.919,0:832:3:820:25169:77 0/1:-1046.2,0,-884.72:962:443:508:15779:13869 . 1/1:-2052.15,-237.505,0:825:2:808:24621:72 . 1/1:-2307.21,-248.903,0:906:7:885:27417:222 0/1:-1292.61,0,-1062.54:1163:529:621:19494:16440 0/1:-981.747,0,-1012.2:1041:516:509:15294:15592 1/1:-1915.58,-212.549,0:757:5:741:22707:172 . 1/1:-2825.5,-294.275,0:1134:16:1106:34126:492 . . 1/1:-2697.24,-313.673,0:1052:0:1042:31842:0 0/1:-521.531,0,-622.245:574:300:265:8110:9377 0/1:-1189.64,0,-1175.45:1168:579:575:17962:17955 0/1:-1035.12,0,-754.522:926:396:519:15638:12209 1/1:-2696.43,-296.973,0:1049:5:1033:32159:176 0/1:-1001.25,0,-771.169:895:398:488:14976:12152 0/1:-1111.23,0,-1346.95:1195:626:548:17205:19782 1/1:-2406.95,-254.28,0:958:11:931:28561:331 1/1:-2526.45,-285.197,0:991:4:978:30374:118 . 0/1:-790.43,0,-621.952:704:310:385:11728:9735 1/1:-3064.15,-327.722,0:1200:13:1174:36668:335 1/1:-2960.05,-328.875,0:1156:7:1139:35151:182 1/1:-2419.23,-285.959,0:972:1:957:28904:27 0/1:-1272.47,0,-1135.92:1182:544:620:19198:17322 . 1/1:-1879.45,-219.812,0:747:3:736:22640:68 0/1:-793.805,0,-692.562:739:341:385:11982:10704 0/1:-1112.57,0,-1054.28:1102:531:549:17029:16215 0/1:-643.733,0,-480.141:595:253:327:9841:7895 1/1:-1867.33,-213.071,0:735:2:722:22130:57 0/1:-1014.24,0,-846.243:977:442:519:15441:13505 1/1:-1792.88,-212.226,0:719:0:705:21363:0 0/1:-1475.46,0,-1085.15:1272:558:702:21909:17256 0/1:-885.716,0,-889.996:890:434:442:13705:13547 1/1:-1681.51,-195.971,0:687:4:676:20415:122 1/1:-3312.46,-363.757,0:1288:9:1271:39414:254 1/1:-2663.74,-298.961,0:1036:4:1018:31183:135 . 0/1:-973.207,0,-789.782:889:400:476:14660:12413 0/1:-849.766,0,-835.737:866:414:436:13064:12926 0/1:-1000.82,0,-972.708:1014:485:511:15520:15151 0/1:-945.396,0,-928.359:954:463:478:14588:14343 0/1:-1285.12,0,-1175.81:1236:581:637:19482:18166 1/1:-2756.53,-300.242,0:1068:7:1053:32553:213 1/1:-1854.73,-230.126,0:785:1:774:22445:36 1/1:-2226.64,-250.75,0:858:2:852:26291:72 1/1:-2676.82,-307.465,0:1077:7:1057:31983:156 1/1:-2924.99,-330.075,0:1156:6:1130:34673:146 0/1:-1247.98,0,-860.548:1048:435:597:18568:13638 0/1:-626.05,0,-616.677:646:316:317:9645:9583 1/1:-1656.14,-180.918,0:660:8:643:19832:214 0/1:-1149.09,0,-1031.92:1106:516:576:17461:15858 . 0/1:-1150.38,0,-938.189:1049:474:558:17211:14736 0/1:-1015.17,0,-842.701:916:416:486:15062:13124 1/1:-2087.68,-241.592,0:830:3:816:25049:55 . . 0/1:-1100.82,0,-944.958:1040:481:540:16687:14843 0/1:-524.527,0,-515.501:542:269:263:8245:8169 0/1:-993.138,0,-797.379:886:397:480:14844:12513 0/1:-1468.23,0,-1256.95:1363:635:710:22007:19544 1/1:-2514.97,-278.855,0:972:4:956:29864:114 1/1:-2715.96,-299.931,0:1046:4:1030:31940:140 1/1:-2685.32,-295.262,0:1057:6:1031:31680:192 . . 1/1:-1642.54,-174.425,0:610:4:603:19332:107:4,603 0/1:-448.383,0,-461.404:435:214:218:6876:6977:214,218 1/1:-1399.18,-142.447,0:524:5:518:16553:168:5,518 . 1/1:-1191.39,-121.935,0:458:6:452:14257:177:6,452 0/1:-523.563,0,-629.694:551:295:253:7978:9198:295,253 . 0/1:-576.551,0,-435.839:475:209:261:8450:6764:209,261 . 0/1:-543.87,0,-500.923:495:237:256:8016:7471:237,256 . 1/1:-1077.34,-117.101,0:391:0:389:12504:0:0,389 1/1:-1155.24,-130.647,0:438:0:434:13640:0:0,434 0/1:-412.759,0,-508.71:432:226:203:6323:7368:226,203 1/1:-1354.64,-141.771,0:497:3:491:15811:78:3,491 0/1:-471.216,0,-528.809:462:230:223:7020:7748:230,223 1/1:-1291.8,-138.388,0:483:2:479:15226:72:2,479 1/1:-1175.98,-129.274,0:445:2:441:13964:46:2,441 0/1:-410.38,0,-424.544:394:198:195:6189:6394:198,195 1/1:-1219.21,-123.452,0:450:4:445:14427:131:4,445 chr6 152674524 . T C 8900.33 . AB=0.509825;ABP=3.77838;AC=1;AF=0.5;AN=2;AO=467;CIGAR=1X;DP=916;DPB=916;DPRA=0;EPP=21.4655;EPPR=55.3772;GTI=0;LEN=1;MEANALT=3;MQM=39;MQMR=39.0946;NS=1;NUMALT=1;ODDS=1836.59;PAIRED=0.961456;PAIREDR=0.929078;PAO=0;PQA=0;PQR=0;PRO=0;QA=13805;QR=12917;RO=423;RPL=167;RPP=85.2612;RPPR=66.2602;RPR=300;RUN=1;SAF=245;SAP=5.47006;SAR=222;SF=0;SRF=237;SRP=16.3625;SRR=186;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon69:c.A11082G:p.E3694E,SYNE1:NM_182961:exon69:c.A11127G:p.E3709E;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0014;1000g2015aug_all=0.000399361;avsnp147=rs149260051;Kaviar_AF=0.0009832;Kaviar_AC=152;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0014;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=267930;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3341;dpsi_zscore=-0.901;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0024;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-908.792,0,-818.893:916:423:467:13805:12917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152675854 . A G 21607.83 . AB=0.521703;ABP=7.91152;AC=150;AF=0.5;AN=198;AO=625;CIGAR=1X;DP=130608;DPB=1198;DPRA=0;EPP=12.7698;EPPR=3.26862;GTI=0;LEN=1;MEANALT=3;MQM=38.456;MQMR=39.2268;NS=1;NUMALT=1;ODDS=2103.7;PAIRED=0.9536;PAIREDR=0.972119;PAO=0;PQA=0;PQR=0;PRO=0;QA=18261;QR=15381;RO=538;RPL=150;RPP=369.989;RPPR=255.272;RPR=475;RUN=1;SAF=396;SAP=99.9066;SAR=229;SF=0,1;SRF=345;SRP=96.2625;SRR=193;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon67:c.T10866C:p.S3622S\x3bSYNE1:NM_182961:exon67:c.T10866C:p.S3622S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5812;esp6500siv2_ea=0.6133;esp6500siv2_all=0.5812;esp6500siv2_ea=0.6133;1000g2015aug_all=0.568291;avsnp147=rs9397102;Kaviar_AF=0.579003;Kaviar_AC=89515;Kaviar_AN=154602;ExAC_ALL=0.5799;ExAC_AFR=0.5140;ExAC_AMR=0.6004;ExAC_EAS=0.6100;ExAC_FIN=0.5452;ExAC_NFE=0.6001;ExAC_OTH=0.5804;ExAC_SAS=0.5237;CLNALLELEID=135840;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.0361;dpsi_zscore=-2.504;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5855;gnomAD_exome_AFR=0.5125;gnomAD_exome_AMR=0.6022;gnomAD_exome_ASJ=0.6465;gnomAD_exome_EAS=0.6110;gnomAD_exome_FIN=0.5476;gnomAD_exome_NFE=0.6049;gnomAD_exome_OTH=0.5879;gnomAD_exome_SAS=0.5260;gnomAD_genome_ALL=0.5777;gnomAD_genome_AFR=0.5229;gnomAD_genome_AMR=0.6169;gnomAD_genome_ASJ=0.6567;gnomAD_genome_EAS=0.6256;gnomAD_genome_FIN=0.5568;gnomAD_genome_NFE=0.6074;gnomAD_genome_OTH=0.5460;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1192.48,0,-957.994:1198:538:625:18261:15381 1/1:-3848.61,-441.395,0:1589:11:1539:45759:285 1/1:-3207.08,-377.442,0:1329:8:1286:37736:147 1/1:-2077.59,-244.75,0:854:3:831:24716:71 1/1:-3096.48,-366.06,0:1342:12:1279:37355:299 . 1/1:-2582.88,-299.524,0:1080:7:1043:30782:199 0/1:-1258.56,0,-1238.02:1372:673:672:19615:19506 0/1:-1242.35,0,-1137.22:1294:610:655:19329:17905 0/1:-1360.95,0,-1432.37:1551:771:747:21660:22285 1/1:-2847.12,-321.118,0:1216:14:1171:34249:407 1/1:-2786.48,-310.466,0:1171:13:1126:33189:381 0/1:-1184.4,0,-940.169:1145:519:593:17901:15028 0/1:-948.907,0,-1032.39:1112:551:539:15479:16178 0/1:-851.777,0,-1170.88:1094:590:477:13978:17452 1/1:-4507.19,-516.698,0:1883:16:1821:53834:432 0/1:-926.292,0,-874.484:1050:499:513:14837:14039 1/1:-6206.79,-691.813,0:2618:36:2524:74341:944 0/1:-1070.45,0,-1218.19:1256:635:590:16954:18610 1/1:-2276.47,-277.326,0:971:3:937:27068:64 1/1:-2270.26,-266.83,0:974:7:935:26973:190 1/1:-3342.86,-374.986,0:1377:13:1335:39841:378 0/1:-760.015,0,-680.257:821:389:412:11842:11086 1/1:-3926.69,-452.841,0:1640:15:1594:46726:356 1/1:-3724.6,-431.501,0:1569:13:1516:44266:389 1/1:-2461.92,-299.245,0:1080:9:1032:29910:231 0/1:-1122.24,0,-1201.06:1273:630:605:17676:18370 . 1/1:-2356.26,-279.142,0:1017:8:974:28604:227 . 1/1:-2461.03,-285.837,0:1070:14:1019:29440:323 0/1:-1390.53,0,-1598.67:1663:842:780:22504:24708 0/1:-1277.14,0,-1430.24:1461:750:673:20023:21853 1/1:-2114.62,-243.493,0:884:7:858:25409:191 . 1/1:-3704.23,-417.286,0:1555:17:1495:44466:503 . . 1/1:-3057.81,-368.727,0:1287:6:1249:36597:142 0/1:-641.687,0,-708.413:735:369:347:10136:10828 0/1:-1496.45,0,-1484.04:1656:792:824:23697:23295 0/1:-1161.15,0,-1094.41:1235:577:622:17926:17066 1/1:-3006.95,-361.897,0:1248:5:1218:35426:88 0/1:-1130.02,0,-1195.8:1265:630:600:17717:18212 0/1:-1515.72,0,-1566.5:1692:822:835:23956:24234 1/1:-3169.3,-366.481,0:1333:10:1284:37364:294 1/1:-3239.61,-374.067,0:1387:13:1333:38907:358 . 0/1:-942.798,0,-1165.33:1126:582:510:15052:17464 1/1:-4178.92,-484.848,0:1729:10:1679:49739:278 1/1:-3400.04,-383.886,0:1446:18:1393:40690:522 1/1:-3049.2,-373.316,0:1332:8:1280:36912:174 0/1:-1276.83,0,-1906.43:1701:954:707:20988:28128 . 1/1:-2265.89,-279.576,0:996:4:959:27082:118 0/1:-957.148,0,-996.335:1050:524:504:14987:15226 0/1:-1181.79,0,-1173.65:1296:618:640:18408:18206 0/1:-708.46,0,-728.1:818:403:385:11466:11438 1/1:-2193.78,-248.6,0:945:10:903:26152:311 0/1:-1229.1,0,-1149.28:1296:611:642:18940:17953 1/1:-2075.22,-254.45,0:921:6:883:24813:150 0/1:-1548.08,0,-1403.77:1600:756:809:23966:21865 0/1:-954.287,0,-1078.8:1073:555:498:14791:16292 1/1:-2216.87,-270.619,0:970:7:930:26595:138 1/1:-4074.4,-467.795,0:1669:12:1623:48398:278 1/1:-3100.11,-363.403,0:1277:4:1232:36606:109 . 0/1:-1333.63,0,-1163.86:1323:606:682:20323:18139 0/1:-1020.12,0,-1075:1169:576:561:16272:16663 0/1:-1104.35,0,-1395.77:1376:727:609:17829:21198 0/1:-1174.6,0,-1320.67:1392:721:637:18771:20523 0/1:-1518.4,0,-1526.88:1619:797:795:23700:23478 1/1:-3366.07,-398.254,0:1409:9:1370:39860:223 1/1:-1841.19,-221.715,0:881:16:837:22940:494 1/1:-2985.29,-345.652,0:1242:9:1205:35383:253 1/1:-3174.2,-354.911,0:1361:19:1307:37997:508 1/1:-3130.73,-351.574,0:1307:14:1254:37247:378 0/1:-1329.31,0,-1475.91:1523:772:708:20901:22547 0/1:-875.303,0,-704.937:871:406:451:13480:11394 1/1:-1717.29,-190.884,0:729:9:702:20535:263 0/1:-1279.48,0,-1366.9:1455:723:700:20261:20967 . 0/1:-1413.94,0,-1543.78:1599:819:752:22136:23711 0/1:-1055.5,0,-1086.02:1156:570:556:16358:16845 1/1:-2606.32,-295.992,0:1105:10:1066:31155:330 . 0/1:-849.863,0,-1060.56:1047:556:464:13741:16066 0/1:-1211.03,0,-1145.46:1264:614:619:18423:17782 0/1:-750.145,0,-693.927:764:369:383:11376:10784 0/1:-1112.71,0,-1392.6:1391:722:619:17918:20924 0/1:-1552.28,0,-1610.57:1701:837:818:24246:24762 1/1:-2807.56,-307.5,0:1151:14:1112:33512:355 1/1:-3486.25,-387.846,0:1462:16:1407:41768:467 1/1:-3215.69,-362.019,0:1339:12:1287:38312:376 . . 1/1:-4165.96,-430.42,0:1559:12:1531:48440:388:12,1531 0/1:-1481.03,0,-1765.96:1548:807:715:22355:25603:807,715 1/1:-4351.25,-430.776,0:1648:21:1602:50960:656:21,1602 . 1/1:-3500.36,-359.207,0:1339:13:1308:41049:446:13,1308 0/1:-1731.14,0,-1696.21:1691:824:825:25736:25331:824,825 . 0/1:-1652.56,0,-1531.19:1553:750:779:24469:22982:750,779 . 0/1:-1791.89,0,-1708.08:1704:827:847:26630:25613:827,847 . 1/1:-3154.21,-332.792,0:1180:7:1152:36646:182:7,1152 1/1:-3582.4,-378.18,0:1362:10:1332:41572:294:10,1332 0/1:-1365.25,0,-1372.89:1341:665:650:20491:20336:665,650 1/1:-4292.3,-449.055,0:1655:13:1613:50243:460:13,1613 0/1:-1474.21,0,-1617.93:1495:769:693:22168:23714:769,693 1/1:-5034.81,-526.721,0:1914:16:1870:58602:466:16,1870 1/1:-3643.48,-364.815,0:1389:19:1348:42712:535:19,1348 0/1:-1430.41,0,-1540.23:1429:730:676:21462:22747:730,676 1/1:-4213.57,-441.265,0:1573:11:1537:48883:291:11,1537 chr6 152675854 . A G 28322.38 . AB=0;ABP=0;AC=25;AF=1;AN=32;AO=1531;CIGAR=1X;DP=24380;DPB=1559;DPRA=0;EPP=14.7555;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=40.5905;MQMR=41.6667;NS=1;NUMALT=1;ODDS=2005.84;PAIRED=0.97518;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=48440;QR=388;RO=12;RPL=386;RPP=820.087;RPPR=9.52472;RPR=1145;RUN=1;SAF=1105;SAP=656.921;SAR=426;SF=1;SRF=10;SRP=14.5915;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon67:c.T10866C:p.S3622S\x3bSYNE1:NM_182961:exon67:c.T10866C:p.S3622S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5812;esp6500siv2_ea=0.6133;esp6500siv2_all=0.5812;esp6500siv2_ea=0.6133;1000g2015aug_all=0.568291;avsnp147=rs9397102;Kaviar_AF=0.579003;Kaviar_AC=89515;Kaviar_AN=154602;ExAC_ALL=0.5799;ExAC_AFR=0.5140;ExAC_AMR=0.6004;ExAC_EAS=0.6100;ExAC_FIN=0.5452;ExAC_NFE=0.6001;ExAC_OTH=0.5804;ExAC_SAS=0.5237;CLNALLELEID=135840;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.0361;dpsi_zscore=-2.504;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5855;gnomAD_exome_AFR=0.5125;gnomAD_exome_AMR=0.6022;gnomAD_exome_ASJ=0.6465;gnomAD_exome_EAS=0.6110;gnomAD_exome_FIN=0.5476;gnomAD_exome_NFE=0.6049;gnomAD_exome_OTH=0.5879;gnomAD_exome_SAS=0.5260;gnomAD_genome_ALL=0.5777;gnomAD_genome_AFR=0.5229;gnomAD_genome_AMR=0.6169;gnomAD_genome_ASJ=0.6567;gnomAD_genome_EAS=0.6256;gnomAD_genome_FIN=0.5568;gnomAD_genome_NFE=0.6074;gnomAD_genome_OTH=0.5460;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4165.96,-430.42,0:1559:12:1531:48440:388:12,1531 0/1:-1481.03,0,-1765.96:1548:807:715:22355:25603:807,715 1/1:-4351.25,-430.776,0:1648:21:1602:50960:656:21,1602 . 1/1:-3500.36,-359.207,0:1339:13:1308:41049:446:13,1308 0/1:-1731.14,0,-1696.21:1691:824:825:25736:25331:824,825 . 0/1:-1652.56,0,-1531.19:1553:750:779:24469:22982:750,779 . 0/1:-1791.89,0,-1708.08:1704:827:847:26630:25613:827,847 . 1/1:-3154.21,-332.792,0:1180:7:1152:36646:182:7,1152 1/1:-3582.4,-378.18,0:1362:10:1332:41572:294:10,1332 0/1:-1365.25,0,-1372.89:1341:665:650:20491:20336:665,650 1/1:-4292.3,-449.055,0:1655:13:1613:50243:460:13,1613 0/1:-1474.21,0,-1617.93:1495:769:693:22168:23714:769,693 1/1:-5034.81,-526.721,0:1914:16:1870:58602:466:16,1870 1/1:-3643.48,-364.815,0:1389:19:1348:42712:535:19,1348 0/1:-1430.41,0,-1540.23:1429:730:676:21462:22747:730,676 1/1:-4213.57,-441.265,0:1573:11:1537:48883:291:11,1537 chr6 152679518 . C T 8793.04 . AB=0.448598;ABP=27.5662;AC=2;AF=0.5;AN=4;AO=480;CIGAR=1X;DP=2124;DPB=1070;DPRA=0;EPP=16.202;EPPR=32.8201;GTI=0;LEN=1;MEANALT=3;MQM=39.1854;MQMR=39.1924;NS=1;NUMALT=1;ODDS=1999.5;PAIRED=0.960417;PAIREDR=0.954939;PAO=0;PQA=0;PQR=0;PRO=0;QA=14066;QR=16993;RO=577;RPL=213;RPP=16.202;RPPR=19.9041;RPR=267;RUN=1;SAF=226;SAP=6.55704;SAR=254;SF=0,1;SRF=250;SRP=25.3234;SRR=327;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon66:c.G10619A:p.R3540H,SYNE1:NM_182961:exon66:c.G10598A:p.R3533H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0151;esp6500siv2_ea=0.02;esp6500siv2_all=0.0151;esp6500siv2_ea=0.02;1000g2015aug_all=0.0071885;avsnp147=rs145911138;Kaviar_AF=0.0122702;Kaviar_AC=1897;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0037;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0.0132;ExAC_NFE=0.0156;ExAC_OTH=0.0066;ExAC_SAS=0.0136;CLNALLELEID=135838;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.163;SIFT_pred=T;Polyphen2_HDIV_score=0.042;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.037;LRT_pred=N;MutationTaster_score=0.972;MutationTaster_pred=D;MutationAssessor_score=1.085;MutationAssessor_pred=L;FATHMM_score=1.26;FATHMM_pred=T;PROVEAN_score=-1.05;PROVEAN_pred=N;VEST3_score=0.06;CADD_raw=3.946;CADD_phred=23.6;DANN_score=0.933;fathmm-MKL_coding_score=0.764;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.034;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.23;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.865;SiPhy_29way_logOdds=12.872;GDI_full_10282015=.;dpsi_max_tissue=-0.0892;dpsi_zscore=-0.416;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0125;gnomAD_exome_AFR=0.0034;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0267;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0123;gnomAD_exome_NFE=0.0165;gnomAD_exome_OTH=0.0113;gnomAD_exome_SAS=0.0140;gnomAD_genome_ALL=0.0102;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0367;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0131;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-881.226,0,-1129.11:1070:577:480:14066:16993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-947.201,0,-1261.5:1054:576:466:14678:18184:576,466 . . . . . . . . . . . . . chr6 152679594 . A G 9055.15 . AB=0.500969;ABP=3.01872;AC=8;AF=0.5;AN=16;AO=517;CIGAR=1X;DP=8308;DPB=1032;DPRA=0;EPP=10.0707;EPPR=3.88245;GTI=0;LEN=1;MEANALT=3;MQM=39.6074;MQMR=39.5184;NS=1;NUMALT=1;ODDS=2105.81;PAIRED=0.965184;PAIREDR=0.940574;PAO=0;PQA=0;PQR=0;PRO=0;QA=15252;QR=14379;RO=488;RPL=245;RPP=6.0722;RPPR=6.49889;RPR=272;RUN=1;SAF=233;SAP=13.9349;SAR=284;SF=0,1;SRF=215;SRP=17.9792;SRR=273;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon66:c.T10543C:p.L3515L,SYNE1:NM_182961:exon66:c.T10522C:p.L3508L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0123;esp6500siv2_ea=0.0176;esp6500siv2_all=0.0123;esp6500siv2_ea=0.0176;1000g2015aug_all=0.00459265;avsnp147=rs62426382;Kaviar_AF=0.0106208;Kaviar_AC=1642;Kaviar_AN=154602;ExAC_ALL=0.0104;ExAC_AFR=0.0028;ExAC_AMR=0.0063;ExAC_EAS=0.0001;ExAC_FIN=0.0104;ExAC_NFE=0.0159;ExAC_OTH=0.0055;ExAC_SAS=0.0016;CLNALLELEID=135837;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0380;dpsi_zscore=-0.208;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0110;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0079;gnomAD_exome_ASJ=0.0413;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0119;gnomAD_exome_NFE=0.0144;gnomAD_exome_OTH=0.0115;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0090;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0114;gnomAD_genome_NFE=0.0133;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1016.55,0,-924.581:1032:488:517:15252:14379 . . . . . . . . 0/1:-732.628,0,-906.239:876:454:404:11624:13700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-904.323,0,-1090.49:1045:546:472:14234:16335 0/1:-586.246,0,-1012.78:900:511:361:10102:15103 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1022.56,0,-1167.36:1180:611:538:16045:17805 . . . . . . . 0/1:-924.617,0,-906.715:986:482:474:14183:14098 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1110.73,0,-1112.85:1107:550:533:16749:16665:550,533 . 0/1:-1241.55,0,-1124.84:1182:568:587:18400:17072:568,587 . . . chr6 152683413 . G T 14005.31 . AB=0.480519;ABP=5.29458;AC=167;AF=0.5;AN=210;AO=333;CIGAR=1X;DP=80830;DPB=693;DPRA=0;EPP=3.17332;EPPR=21.5137;GTI=0;LEN=1;MEANALT=3;MQM=37.7237;MQMR=37.7662;NS=1;NUMALT=1;ODDS=1348.34;PAIRED=0.954955;PAIREDR=0.940845;PAO=0;PQA=0;PQR=0;PRO=0;QA=9823;QR=10895;RO=355;RPL=168;RPP=3.06899;RPPR=18.9202;RPR=165;RUN=1;SAF=92;SAP=147.782;SAR=241;SF=0,1;SRF=112;SRP=107.981;SRR=243;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon64:c.C10212A:p.G3404G,SYNE1:NM_182961:exon64:c.C10191A:p.G3397G;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.6481;esp6500siv2_ea=0.6806;esp6500siv2_all=0.6481;esp6500siv2_ea=0.6806;1000g2015aug_all=0.659145;avsnp147=rs4407724;Kaviar_AF=0.652644;Kaviar_AC=100900;Kaviar_AN=154602;ExAC_ALL=0.6541;ExAC_AFR=0.5801;ExAC_AMR=0.6690;ExAC_EAS=0.7889;ExAC_FIN=0.6039;ExAC_NFE=0.6652;ExAC_OTH=0.6630;ExAC_SAS=0.5944;CLNALLELEID=135835;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0702;dpsi_zscore=-0.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6587;gnomAD_exome_AFR=0.5756;gnomAD_exome_AMR=0.6700;gnomAD_exome_ASJ=0.7085;gnomAD_exome_EAS=0.7899;gnomAD_exome_FIN=0.6059;gnomAD_exome_NFE=0.6701;gnomAD_exome_OTH=0.6538;gnomAD_exome_SAS=0.5962;gnomAD_genome_ALL=0.6496;gnomAD_genome_AFR=0.5876;gnomAD_genome_AMR=0.6746;gnomAD_genome_ASJ=0.7384;gnomAD_genome_EAS=0.7752;gnomAD_genome_FIN=0.6216;gnomAD_genome_NFE=0.6773;gnomAD_genome_OTH=0.6214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-607.605,0,-688.322:693:355:333:9823:10895 1/1:-1947.14,-223.19,0:806:11:790:23390:201 1/1:-1812.16,-198.416,0:742:12:722:21612:269 1/1:-1115.59,-124.306,0:463:8:449:13362:154 1/1:-1800.22,-209.515,0:738:7:724:21810:118 0/1:-900.841,0,-923.641:934:464:464:14032:14327 1/1:-1677.7,-196.623,0:676:3:669:20261:64 0/1:-757.628,0,-792.947:820:404:411:12212:12483 0/1:-687.299,0,-718.312:726:356:366:10787:10917 0/1:-799.537,0,-722.895:810:381:425:12527:11516 1/1:-1779.3,-180.74,0:765:20:734:22173:558 1/1:-1860.05,-210.294,0:736:6:723:22010:104 0/1:-683.219,0,-692.657:722:351:367:10919:10768 1/1:-1538.05,-184.751,0:666:9:654:19003:165 1/1:-1567.95,-181.008,0:654:9:644:18955:208 1/1:-2392.66,-273.644,0:979:9:956:28942:232 0/1:-594.572,0,-608.565:628:304:323:9348:9453 1/1:-3762.17,-413.514,0:1529:25:1496:45147:513 1/1:-1710.98,-198.708,0:712:9:699:20795:170 1/1:-1588.68,-181.777,0:632:5:624:18840:92 1/1:-1338.41,-151.233,0:525:4:519:16059:69 1/1:-2202.5,-241.671,0:896:13:876:26398:304 0/1:-324.076,0,-453.813:430:230:193:5458:6869 1/1:-2236.53,-249.25,0:908:12:893:26761:261 1/1:-1969.38,-216.745,0:812:13:791:23462:296 1/1:-1483.11,-178.244,0:636:7:623:18249:133 0/1:-708.679,0,-663.289:756:357:393:11096:10792 . 1/1:-1369.85,-155.438,0:570:10:556:16553:200 0/1:-463.887,0,-505.909:491:245:241:7305:7674 1/1:-1560.36,-175.991,0:654:11:635:18808:220 0/1:-899.744,0,-948.648:943:469:469:13985:14545 0/1:-737.542,0,-800.976:808:406:394:11821:12358 1/1:-1284.96,-137.536,0:545:13:527:15817:317 0/1:-733.364,0,-806.317:780:400:377:11420:12177 1/1:-2124.8,-236.709,0:879:16:849:25525:288 . . 1/1:-1875.05,-219.499,0:786:10:767:22466:182 0/1:-501.115,0,-550.371:548:277:267:7953:8474 1/1:-2187.8,-238.773,0:894:16:867:26199:343 0/1:-689.031,0,-629.63:685:324:355:10571:9948 1/1:-1912.05,-212.771,0:765:10:751:22820:207 0/1:-703.918,0,-735.226:729:362:364:10996:11271 1/1:-2103.89,-217.093,0:920:30:880:25910:684 1/1:-1760,-196.015,0:745:12:719:21210:305 1/1:-1788.56,-208.775,0:743:7:730:21617:163 . 0/1:-507.821,0,-533.016:549:269:275:8086:8324 1/1:-2298.79,-248.999,0:910:14:893:27469:284 1/1:-1957.34,-217.303,0:800:11:783:23476:260 1/1:-1641.89,-195.048,0:693:7:677:19845:123 0/1:-945.526,0,-970.357:964:477:478:14642:14920 0/1:-844.191,0,-852.803:893:445:443:13478:13276 1/1:-1298.15,-147.094,0:539:8:523:15720:157 0/1:-601.177,0,-666.697:658:336:320:9392:10456 0/1:-805.991,0,-760.912:807:376:424:12345:11738 1/1:-1154.98,-127.596,0:488:11:469:13989:202 1/1:-1326.7,-151.791,0:556:7:543:16036:155 0/1:-638.84,0,-779.757:724:382:340:9993:11603 1/1:-1146.36,-135.534,0:474:4:465:13935:63 0/1:-900.248,0,-993.112:986:504:477:14187:15433 0/1:-550.594,0,-654.278:629:320:305:8887:9912 1/1:-1442.25,-167.792,0:596:10:585:17435:140 1/1:-2480.16,-275.194,0:1022:14:997:29832:338 1/1:-1824.85,-214.012,0:761:8:745:21996:162 . 0/1:-681.149,0,-805.541:764:396:362:10862:12296 0/1:-526.468,0,-531.051:555:271:281:8188:8340 1/1:-1663.6,-188.752,0:685:12:666:20097:182 0/1:-807.796,0,-685.065:791:359:429:12571:10942 0/1:-841.144,0,-828.447:856:418:432:13096:12781 1/1:-2043.91,-202.346,0:871:26:834:25007:638 1/1:-1160.93,-142.678,0:534:9:519:14437:192 1/1:-1517.79,-181.693,0:627:5:616:18066:70 1/1:-2033.87,-223.406,0:853:18:827:24758:376 1/1:-2087.1,-231.857,0:863:12:846:25266:307 0/1:-740.019,0,-915.418:860:446:407:11976:13922 0/1:-512.282,0,-557.358:548:270:274:7962:8556 1/1:-1025.12,-117.641,0:428:7:417:12478:169 1/1:-1984.48,-230.796,0:828:10:813:23905:198 0/1:-929.542,0,-832.488:911:427:478:14304:13064 1/1:-2315.09,-261.888,0:954:11:933:27972:251 0/1:-679.389,0,-665.267:704:337:363:10823:10364 1/1:-1626.87,-188.942,0:706:11:683:20067:238 . 0/1:-455.434,0,-588.293:553:297:249:7416:9012 0/1:-716.902,0,-894.483:824:442:376:11385:13416 0/1:-500.056,0,-462.268:505:241:258:7711:7449 1/1:-1964.52,-211.626,0:796:14:775:23621:320 0/1:-1061.98,0,-1017.85:1088:524:555:16467:16007 1/1:-1619.76,-178.664,0:656:8:645:19502:201 1/1:-1994.6,-226.618,0:811:7:792:23661:156 1/1:-1871.04,-207.807,0:783:14:760:22627:309 . . 1/1:-2478.55,-262.157,0:924:6:915:29018:170:6,915 1/1:-2494.48,-255.013,0:933:11:915:29237:282:11,915 1/1:-2848.18,-295.462,0:1046:9:1034:33268:210:9,1034 . 1/1:-1968.56,-201.164,0:756:12:737:23255:277:12,737 0/1:-1220.2,0,-1085.65:1104:514:584:18021:16401:514,584 . 0/1:-1059.54,0,-871.781:910:420:489:15419:13435:420,489 . 0/1:-896.456,0,-875.487:840:415:425:13345:13103:415,425 0/1:-908.462,0,-1215:996:547:447:14058:17514:547,447 1/1:-2001.89,-205.727,0:757:12:741:23616:265:12,741 1/1:-2324.56,-238.428,0:865:9:854:27299:241:9,854 0/1:-828.643,0,-1035.74:869:464:401:12552:14896:464,401 1/1:-2599.58,-277.17,0:980:10:968:30436:193:10,968 0/1:-925.368,0,-913.56:884:440:441:13877:13686:440,441 1/1:-2822.53,-301.854,0:1059:9:1046:33246:184:9,1046 1/1:-2406.41,-250.754,0:904:8:890:28194:221:8,890 0/1:-955.851,0,-850.064:857:407:445:14065:12882:407,445 1/1:-2302.35,-231.696,0:864:11:846:27135:297:11,846 chr6 152685970 . A G 5973.47 . AB=0.515602;ABP=4.43321;AC=1;AF=0.5;AN=2;AO=347;CIGAR=1X;DP=673;DPB=673;DPRA=0;EPP=80.1132;EPPR=120.564;GTI=0;LEN=1;MEANALT=3;MQM=36.2651;MQMR=38.2587;NS=1;NUMALT=1;ODDS=1375.44;PAIRED=0.899135;PAIREDR=0.962145;PAO=0;PQA=0;PQR=0;PRO=0;QA=10440;QR=10472;RO=317;RPL=78;RPP=231.303;RPPR=307.982;RPR=269;RUN=1;SAF=241;SAP=117.06;SAR=106;SF=0;SRF=231;SRP=147.033;SRR=86;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0500;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0500;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0547125;avsnp147=rs112401775;Kaviar_AF=0.0142107;Kaviar_AC=2197;Kaviar_AN=154602;ExAC_ALL=0.0147;ExAC_AFR=0.1617;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0055;ExAC_SAS=0.0004;CLNALLELEID=252191;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0040;dpsi_zscore=0.029;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0113;gnomAD_exome_AFR=0.1634;gnomAD_exome_AMR=0.0060;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0064;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0461;gnomAD_genome_AFR=0.1615;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-648.129,0,-666.089:673:317:347:10440:10472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152686071 . A G 10223.00 . AB=0.468343;ABP=13.0465;AC=1;AF=0.5;AN=2;AO=540;CIGAR=1X;DP=1153;DPB=1153;DPRA=0;EPP=31.3842;EPPR=10.694;GTI=0;LEN=1;MEANALT=3;MQM=38.8926;MQMR=40.2659;NS=1;NUMALT=1;ODDS=2353.94;PAIRED=0.957407;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=16350;QR=19085;RO=598;RPL=212;RPP=57.1202;RPPR=89.1284;RPR=328;RUN=1;SAF=314;SAP=34.1508;SAR=226;SF=1;SRF=356;SRP=50.2017;SRR=242;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon63:c.T10077C:p.S3359S,SYNE1:NM_182961:exon63:c.T10056C:p.S3352S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0064;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0064;1000g2015aug_all=0.00199681;avsnp147=rs140861713;Kaviar_AF=0.0043984;Kaviar_AC=680;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0010;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0030;ExAC_NFE=0.0065;ExAC_OTH=0.0055;ExAC_SAS=0.0022;CLNALLELEID=195497;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0131;dpsi_zscore=-0.059;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0032;gnomAD_exome_NFE=0.0062;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0056;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1042.37,0,-1298.73:1153:598:540:16350:19085:598,540 . . . . . . . . . . chr6 152686090 . G T 11003.00 . AB=0.465097;ABP=15.5917;AC=1;AF=0.5;AN=2;AO=553;CIGAR=1X;DP=1189;DPB=1189;DPRA=0;EPP=5.08753;EPPR=3.06527;GTI=0;LEN=1;MEANALT=2;MQM=39.0018;MQMR=40.5253;NS=1;NUMALT=1;ODDS=2533.53;PAIRED=0.960217;PAIREDR=0.969937;PAO=0;PQA=0;PQR=0;PRO=0;QA=17435;QR=20225;RO=632;RPL=222;RPP=49.6636;RPPR=66.5602;RPR=331;RUN=1;SAF=295;SAP=8.38597;SAR=258;SF=1;SRF=346;SRP=15.3794;SRR=286;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon63:c.C10058A:p.S3353Y,SYNE1:NM_182961:exon63:c.C10037A:p.S3346Y;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0064;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0064;1000g2015aug_all=0.00199681;avsnp147=rs150170988;Kaviar_AF=0.0043984;Kaviar_AC=680;Kaviar_AN=154602;ExAC_ALL=0.0043;ExAC_AFR=0.0010;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0030;ExAC_NFE=0.0065;ExAC_OTH=0.0055;ExAC_SAS=0.0022;CLNALLELEID=195496;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.187;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.155;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=2.251;CADD_phred=17.84;DANN_score=0.845;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.861;phyloP7way_vertebrate=-0.020;phyloP20way_mammalian=-0.371;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=4.372;GDI_full_10282015=.;dpsi_max_tissue=-0.0085;dpsi_zscore=-0.027;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0038;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0032;gnomAD_exome_NFE=0.0062;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1114.92,0,-1391.16:1189:632:553:17435:20225:632,553 . . . . . . . . . . chr6 152690594 . C T 5942.37 . AB=0.426652;ABP=44.74;AC=1;AF=0.5;AN=2;AO=381;CIGAR=1X;DP=893;DPB=893;DPRA=0;EPP=3.47195;EPPR=19.1964;GTI=0;LEN=1;MEANALT=3;MQM=35.8058;MQMR=36.03;NS=1;NUMALT=1;ODDS=1368.28;PAIRED=0.929134;PAIREDR=0.90364;PAO=0;PQA=0;PQR=0;PRO=0;QA=10980;QR=14371;RO=467;RPL=121;RPP=113.128;RPPR=50.4433;RPR=260;RUN=1;SAF=278;SAP=177.555;SAR=103;SF=0;SRF=325;SRP=158.729;SRR=142;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0003;1000g2015aug_all=0.00119808;avsnp147=rs143173603;Kaviar_AF=0.0010996;Kaviar_AC=170;Kaviar_AN=154602;ExAC_ALL=0.0013;ExAC_AFR=0.0102;ExAC_AMR=0.0003;ExAC_EAS=0.0025;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=299458;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1586;dpsi_zscore=0.636;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0112;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0021;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0110;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.673e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-633.221,0,-898.409:893:467:381:10980:14371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152694184 . T C 15211.72 . AB=0.46697;ABP=15.4901;AC=125;AF=0.5;AN=180;AO=615;CIGAR=1X;DP=98392;DPB=1317;DPRA=0;EPP=3.04208;EPPR=12.8584;GTI=0;LEN=1;MEANALT=3;MQM=37.3106;MQMR=38.2624;NS=1;NUMALT=1;ODDS=2326.18;PAIRED=0.913821;PAIREDR=0.926537;PAO=0;PQA=0;PQR=0;PRO=0;QA=17966;QR=20496;RO=667;RPL=100;RPP=611.111;RPPR=591.05;RPR=515;RUN=1;SAF=360;SAP=41.9379;SAR=255;SF=0,1;SRF=389;SRP=43.1223;SRR=278;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon59:c.A9516G:p.E3172E,SYNE1:NM_182961:exon59:c.A9495G:p.E3165E;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5288;esp6500siv2_ea=0.5458;esp6500siv2_all=0.5288;esp6500siv2_ea=0.5458;1000g2015aug_all=0.468251;avsnp147=rs6913579;Kaviar_AF=0.481533;Kaviar_AC=74446;Kaviar_AN=154602;ExAC_ALL=0.4993;ExAC_AFR=0.4785;ExAC_AMR=0.4934;ExAC_EAS=0.4402;ExAC_FIN=0.4887;ExAC_NFE=0.5328;ExAC_OTH=0.4857;ExAC_SAS=0.4172;CLNALLELEID=135899;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8777;dpsi_zscore=-2.125;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5031;gnomAD_exome_AFR=0.4766;gnomAD_exome_AMR=0.4951;gnomAD_exome_ASJ=0.5536;gnomAD_exome_EAS=0.4429;gnomAD_exome_FIN=0.4899;gnomAD_exome_NFE=0.5394;gnomAD_exome_OTH=0.5011;gnomAD_exome_SAS=0.4209;gnomAD_genome_ALL=0.5133;gnomAD_genome_AFR=0.4821;gnomAD_genome_AMR=0.5276;gnomAD_genome_ASJ=0.5298;gnomAD_genome_EAS=0.4532;gnomAD_genome_FIN=0.5040;gnomAD_genome_NFE=0.5421;gnomAD_genome_OTH=0.4643;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1089.17,0,-1317.68:1317:667:615:17966:20496 0/1:-930.245,0,-1146.81:1095:562:511:15232:17545 1/1:-1752.86,-209.719,0:759:5:723:21320:106 0/1:-1179.8,0,-1052.3:1225:547:643:18512:16941 . 0/1:-987.631,0,-823.895:993:426:541:15556:13155 0/1:-956.408,0,-962.906:1062:494:538:15467:15251 0/1:-734.054,0,-846.952:832:413:400:12042:12838 0/1:-1075.14,0,-1247.18:1261:613:614:17742:19346 1/1:-2246.86,-234.718,0:1031:27:975:28315:799 0/1:-864.162,0,-1017.08:1001:508:472:13821:15724 0/1:-850.68,0,-1036.04:1034:525:481:13928:16019 0/1:-905.4,0,-812.642:990:454:511:14421:13497 0/1:-869.471,0,-764.886:888:404:458:13624:12312 1/1:-3470.66,-403.764,0:1544:20:1483:42192:570 0/1:-852.572,0,-696.533:889:384:475:13446:11882 1/1:-4717.04,-524.635,0:2076:34:1975:57584:1007 0/1:-1088.2,0,-980.323:1110:506:582:16877:15512 1/1:-1946.28,-235.563,0:849:7:815:23847:142 1/1:-1868.3,-223.473,0:816:6:783:22931:159 1/1:-2950.81,-320.303,0:1307:26:1238:36275:697 0/1:-623.512,0,-703.337:745:362:361:10172:11175 0/1:-1243.96,0,-1255.72:1336:638:669:19417:19751 1/1:-3135.67,-374.325,0:1356:11:1300:37811:255 1/1:-2083.41,-264.417,0:939:6:900:25688:106 0/1:-686.972,0,-1124.45:986:560:405:11752:17196 . 0/1:-743.436,0,-928.004:944:476:440:12631:14647 . 1/1:-2348.51,-280.565,0:1041:10:998:28745:259 0/1:-1314.79,0,-1334.46:1459:692:737:21389:21333 0/1:-1058.87,0,-1178.46:1275:618:615:17293:18772 0/1:-688.479,0,-587.99:710:319:372:10868:9663 0/1:-1056,0,-1161.41:1196:588:578:16677:18257 1/1:-2969.59,-349.092,0:1290:14:1238:36548:359 . . 1/1:-2488.58,-281.573,0:1103:19:1048:30325:492 . 0/1:-1293.53,0,-1500.74:1480:732:708:20474:22993 0/1:-982.28,0,-958.948:1080:498:546:15272:15212 0/1:-1018,0,-916.068:1049:474:544:15922:14501 0/1:-1023.57,0,-1095.21:1120:554:541:16141:17313 0/1:-1354.22,0,-1353.5:1485:700:745:21561:21339 1/1:-2828.26,-326.5,0:1205:9:1163:34262:311 1/1:-2868.22,-338.532,0:1239:11:1188:34870:253 . 0/1:-875.408,0,-1222.76:1108:588:487:14320:18441 0/1:-1260.3,0,-1155.79:1303:605:666:19640:18416 1/1:-2840.28,-337.131,0:1236:10:1192:34496:281 1/1:-2199.81,-239.084,0:1022:30:967:27533:766 0/1:-1122.72,0,-1071.81:1202:567:606:17738:17222 . 0/1:-810.837,0,-767.575:901:420:449:13075:12537 0/1:-774.402,0,-752.154:849:391:431:12456:11801 . . 1/1:-1952.6,-229.276,0:831:9:801:23734:210 0/1:-981.416,0,-897.305:1028:468:534:15506:14474 1/1:-1832.12,-218.78,0:845:13:795:22601:288 . . . 1/1:-3628.06,-419.087,0:1553:15:1495:43790:431 1/1:-2608.33,-311.116,0:1118:8:1075:31110:169 . 0/1:-1134.22,0,-1028.47:1166:532:603:17552:16306 0/1:-828.375,0,-761.156:872:400:447:13018:12385 0/1:-1058.27,0,-1129.04:1167:574:569:16905:17527 0/1:-1050.03,0,-949.158:1087:506:556:16339:15297 0/1:-1281.17,0,-1609.59:1494:779:691:20441:24392 1/1:-2989.32,-342.095,0:1319:23:1257:36490:560 0/1:-614.502,0,-570.363:763:338:394:10907:9809 1/1:-2405.37,-281.824,0:1028:10:992:29538:224 1/1:-2695.56,-313.995,0:1184:13:1133:32678:364 1/1:-2647.26,-322.522,0:1173:9:1122:31940:219 0/1:-1129.19,0,-1310.28:1304:659:616:18195:20415 . 1/1:-1602.22,-192.908,0:732:8:690:19956:231 0/1:-1022.51,0,-1085.9:1146:549:562:16304:16996 . 0/1:-1068.55,0,-1141.11:1206:579:598:17102:18008 0/1:-1006.36,0,-950.879:1106:509:567:16239:15228 1/1:-2207.07,-256.511,0:993:15:948:27600:389 . . . 0/1:-600.252,0,-555.799:645:288:342:9799:8851 0/1:-938.649,0,-1114.28:1100:549:529:15313:17068 0/1:-1402.88,0,-1496:1555:742:778:22380:23202 1/1:-2431.3,-297.485,0:1066:7:1023:29722:160 1/1:-2992.52,-341.562,0:1303:16:1253:36483:472 0/1:-1064.1,0,-1047.22:1159:545:586:16798:16813 . . 1/1:-2531.47,-278.895,0:977:4:954:29684:114:4,954 0/1:-1031.33,0,-984.046:988:472:498:15527:14855:472,498 1/1:-3121.52,-326.542,0:1210:13:1180:36906:381:13,1180 . 1/1:-2299.13,-246.963,0:891:7:870:27272:200:7,870 0/1:-1011.16,0,-1114.16:1046:528:499:15522:16546:528,499 . 0/1:-1118.26,0,-996.271:1045:491:541:16846:15136:491,541 . 0/1:-1065.89,0,-828.912:934:406:513:15794:12791:406,513 0/1:-1100.05,0,-967.303:1022:465:538:16601:14859:465,538 1/1:-2172.31,-234.67,0:837:5:815:25626:150:5,815 1/1:-2387.64,-261.845,0:911:4:894:27993:96:4,894 . 0/1:-1230.74,0,-856.322:1028:430:573:17953:13592:430,573 0/1:-1109.5,0,-726.247:896:363:519:16012:11520:363,519 0/1:-1269.94,0,-944.693:1079:464:606:18597:14740:464,606 1/1:-2287.27,-238.729,0:908:13:878:27152:336:13,878 0/1:-1056.74,0,-888.315:918:422:485:15435:13506:422,485 1/1:-2606.19,-276.044,0:1021:11:998:30833:326:11,998 chr6 152694190 . T C 5887.42 . AB=0.521563;ABP=6.00705;AC=2;AF=0.5;AN=4;AO=387;CIGAR=1X;DP=1379;DPB=742;DPRA=0;EPP=4.63189;EPPR=9.09422;GTI=0;LEN=1;MEANALT=3;MQM=35.6873;MQMR=38.1603;NS=1;NUMALT=1;ODDS=1392.59;PAIRED=0.883721;PAIREDR=0.889213;PAO=0;PQA=0;PQR=0;PRO=0;QA=11348;QR=10537;RO=343;RPL=49;RPP=471.65;RPPR=346.704;RPR=338;RUN=1;SAF=218;SAP=16.4824;SAR=169;SF=0;SRF=191;SRP=12.6395;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon59:c.A9510G:p.Q3170Q,SYNE1:NM_182961:exon59:c.A9489G:p.Q3163Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000599042;avsnp147=rs35379711;Kaviar_AF=0.0012613;Kaviar_AC=195;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0020;ExAC_OTH=0.0022;ExAC_SAS=0.0013;CLNALLELEID=265921;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3809;dpsi_zscore=-0.960;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0120;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0016;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-685.074,0,-651.807:742:343:387:11348:10537 . . . . . . . . 0/1:-597.197,0,-564.166:637:295:336:9722:9066 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152694297 . C T 5540.04 . AB=0.449296;ABP=18.8651;AC=1;AF=0.5;AN=2;AO=319;CIGAR=1X;DP=710;DPB=710;DPRA=0;EPP=3.34385;EPPR=29.1437;GTI=0;LEN=1;MEANALT=3;MQM=37.116;MQMR=37.8097;NS=1;NUMALT=1;ODDS=1275.64;PAIRED=0.962382;PAIREDR=0.911528;PAO=0;PQA=0;PQR=0;PRO=0;QA=9395;QR=11409;RO=373;RPL=214;RPP=83.8857;RPPR=69.6623;RPR=105;RUN=1;SAF=187;SAP=23.6018;SAR=132;SF=0;SRF=220;SRP=29.1437;SRR=153;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon59:c.G9403A:p.G3135R,SYNE1:NM_182961:exon59:c.G9382A:p.G3128R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_pred=T;PROVEAN_score=-3.54;PROVEAN_pred=D;VEST3_score=0.917;CADD_raw=4.747;CADD_phred=24.7;DANN_score=0.999;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.701;MetaSVM_pred=T;MetaLR_score=0.236;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.96;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.899;SiPhy_29way_logOdds=20.401;GDI_full_10282015=.;dpsi_max_tissue=0.7655;dpsi_zscore=1.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.065e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-572.81,0,-743.005:710:373:319:9395:11409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152697692 . G C 4715.58 . AB=0.503922;ABP=3.07842;AC=1;AF=0.5;AN=2;AO=257;CIGAR=1X;DP=510;DPB=510;DPRA=0;EPP=38.7086;EPPR=194.534;GTI=0;LEN=1;MEANALT=3;MQM=38.6226;MQMR=39.1224;NS=1;NUMALT=1;ODDS=990.382;PAIRED=0.988327;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7472;QR=7160;RO=245;RPL=120;RPP=5.45215;RPPR=8.54977;RPR=137;RUN=1;SAF=96;SAP=38.7086;SAR=161;SF=0;SRF=99;SRP=22.589;SRR=146;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon58:c.C9169G:p.L3057V,SYNE1:NM_182961:exon58:c.C9148G:p.L3050V;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0031;1000g2015aug_all=0.00119808;avsnp147=rs117360770;Kaviar_AF=0.0016041;Kaviar_AC=248;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0.0007;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0023;ExAC_OTH=0;ExAC_SAS=0.0007;CLNALLELEID=195175;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_pred=M;FATHMM_score=0.81;FATHMM_pred=T;PROVEAN_score=-1.26;PROVEAN_pred=N;VEST3_score=0.505;CADD_raw=5.603;CADD_phred=26.5;DANN_score=0.998;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.393;MetaSVM_pred=T;MetaLR_score=0.424;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.71;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.908;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.856;GDI_full_10282015=.;dpsi_max_tissue=-0.2402;dpsi_zscore=-0.759;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM158322#"Cerebellar_ataxia";gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-486.412,0,-460.434:510:245:257:7472:7160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152697706 . C T 8204.51 . AB=0.467994;ABP=9.26525;AC=107;AF=0.5;AN=164;AO=329;CIGAR=1X;DP=51126;DPB=703;DPRA=0;EPP=48.4792;EPPR=66.8295;GTI=0;LEN=1;MEANALT=3;MQM=39.9544;MQMR=39.1271;NS=1;NUMALT=1;ODDS=1436.54;PAIRED=0.987842;PAIREDR=0.985876;PAO=0;PQA=0;PQR=0;PRO=0;QA=9785;QR=10232;RO=354;RPL=163;RPP=3.0697;RPPR=3.23113;RPR=166;RUN=1;SAF=142;SAP=16.3757;SAR=187;SF=0,1;SRF=154;SRP=15.9901;SRR=200;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.4883;esp6500siv2_ea=0.4606;esp6500siv2_all=0.4883;esp6500siv2_ea=0.4606;1000g2015aug_all=0.529153;avsnp147=rs214955;Kaviar_AF=0.49196;Kaviar_AC=76058;Kaviar_AN=154602;ExAC_ALL=0.5101;ExAC_AFR=0.5541;ExAC_AMR=0.5068;ExAC_EAS=0.5572;ExAC_FIN=0.5141;ExAC_NFE=0.4739;ExAC_OTH=0.5177;ExAC_SAS=0.6035;CLNALLELEID=252197;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4627;dpsi_zscore=-1.054;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5043;gnomAD_exome_AFR=0.5525;gnomAD_exome_AMR=0.5070;gnomAD_exome_ASJ=0.4577;gnomAD_exome_EAS=0.5534;gnomAD_exome_FIN=0.5134;gnomAD_exome_NFE=0.4658;gnomAD_exome_OTH=0.5031;gnomAD_exome_SAS=0.5979;gnomAD_genome_ALL=0.4989;gnomAD_genome_AFR=0.5436;gnomAD_genome_AMR=0.4880;gnomAD_genome_ASJ=0.4801;gnomAD_genome_EAS=0.5446;gnomAD_genome_FIN=0.4974;gnomAD_genome_NFE=0.4662;gnomAD_genome_OTH=0.5460;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-636.89,0,-669.022:703:354:329:9785:10232 0/1:-792.363,0,-682.989:791:362:407:11971:10591 0/1:-656.318,0,-602.604:695:329:346:10038:9367 . 0/1:-575.654,0,-577.118:659:321:316:9000:9008 1/1:-1443.2,-169.251,0:622:7:600:17119:151 0/1:-607.368,0,-499.707:631:285:315:9259:8053 0/1:-585.359,0,-575.714:649:319:319:9182:8918 0/1:-568.908,0,-480.15:572:257:298:8630:7572 0/1:-683.593,0,-611.773:704:329:354:10367:9595 . 0/1:-538.173,0,-660.884:634:328:295:8363:9801 0/1:-551.114,0,-504.06:580:271:293:8343:7816 0/1:-472.005,0,-450.706:549:258:272:7521:7297 0/1:-568.097,0,-457.717:543:249:286:8588:7292 . 0/1:-544.729,0,-441.859:561:247:294:8288:7081 . 0/1:-641.198,0,-581.041:665:309:337:9656:8959 . . . 0/1:-389.661,0,-371.051:430:197:213:6073:5711 0/1:-602.241,0,-708.215:700:368:321:9396:10601 . . 0/1:-635.977,0,-627.646:666:323:330:9810:9639 1/1:-1649.04,-187.223,0:683:5:663:19491:158 0/1:-526.847,0,-438.267:541:246:284:8111:7075 1/1:-1156.39,-132.021,0:471:4:462:13628:100 . 0/1:-864.302,0,-688.822:858:386:447:13037:10930 0/1:-627.363,0,-674.023:718:364:341:9802:10285 0/1:-440.576,0,-397.502:477:230:235:6768:6448 1/1:-1661.77,-184.826,0:704:8:676:19645:244 . 1/1:-1177.87,-133.534,0:483:3:471:13777:104 1/1:-1902.89,-226.712,0:789:2:772:22166:72 . 1/1:-916.741,-103.907,0:407:6:389:10985:178 0/1:-672.606,0,-711.962:749:361:369:10516:10848 0/1:-531.928,0,-571.346:604:301:291:8304:8807 0/1:-579.699,0,-427.963:566:249:300:8723:6978 0/1:-696.384,0,-608.841:695:321:357:10703:9508 0/1:-777.958,0,-809.264:849:421:409:11942:12357 . 0/1:-555.189,0,-510.991:601:285:301:8497:8017 1/1:-958.487,-115.733,0:403:1:394:11215:36 0/1:-593.827,0,-492.577:612:281:312:8992:7882 0/1:-638.989,0,-701.83:721:363:331:9801:10481 . . 0/1:-639.849,0,-814.335:767:404:343:10006:12151 1/1:-1488.91,-169.755,0:629:9:613:17618:220 0/1:-367.99,0,-376.148:436:214:208:5914:5838 0/1:-514.586,0,-500.448:532:258:257:7861:7662 1/1:-1650.96,-182.807,0:689:9:671:19441:246 1/1:-935.183,-102.978,0:429:9:411:11452:265 . 0/1:-537.798,0,-483.887:564:262:287:8233:7505 . 1/1:-1761.3,-185.172,0:742:13:715:20995:385 1/1:-1203.28,-134.657,0:495:4:478:14214:118 1/1:-1280.55,-145.954,0:531:5:517:15179:139 . . 1/1:-993.727,-107.415,0:459:12:435:12111:336 0/1:-594.446,0,-689.253:704:360:324:9446:10484 0/1:-595.9,0,-363.093:515:209:292:8695:5985 0/1:-632.047,0,-666.64:711:362:331:9790:10151 0/1:-557.684,0,-558.693:603:285:294:8572:8496 0/1:-683.558,0,-706.172:739:366:348:10345:10617 0/1:-696.753,0,-823.891:840:427:388:11108:12412 0/1:-333.078,0,-381.023:447:224:205:5450:6005 . . . 0/1:-738.918,0,-715.293:782:379:382:11369:11061 1/1:-1199.13,-138.234,0:509:5:497:14061:145 . 0/1:-619.487,0,-654.745:704:349:332:9603:10105 1/1:-1670.55,-194.51,0:709:5:687:19688:162 0/1:-805.933,0,-647.588:796:357:415:12068:10243 0/1:-593.149,0,-625.358:674:320:329:9194:9548 . 1/1:-1299.39,-147.02,0:548:7:534:15535:186 1/1:-1382.62,-154.512,0:572:6:551:16324:148 1/1:-1803.88,-196.974,0:747:9:723:21475:263 0/1:-353.528,0,-361.519:400:196:189:5422:5480 0/1:-692.073,0,-675.255:746:359:369:10594:10368 0/1:-790.904,0,-823.025:853:421:412:12078:12461 . . 0/1:-543.993,0,-505.838:571:277:284:8339:7942 1/1:-1751.86,-203.666,0:730:5:709:20662:127 . . 0/1:-580.371,0,-528.865:552:264:279:8530:7960:264,279 . 1/1:-838.39,-73.9422,0:343:11:327:10040:314:11,327 . 0/1:-760.633,0,-770.005:763:377:371:11337:11427:377,371 1/1:-1628.77,-180.585,0:650:6:638:18990:150:6,638 0/1:-598.574,0,-629.716:635:312:306:9084:9312:312,306 1/1:-1457.04,-148.235,0:589:10:573:17149:325:10,573 0/1:-520.785,0,-404.588:469:200:258:7640:6305:200,258 0/1:-705.554,0,-689.024:681:336:337:10373:10196:336,337 . . 1/1:-1470.84,-160.249,0:576:4:562:16985:114:4,562 0/1:-510.202,0,-493.441:502:243:252:7560:7460:243,252 0/1:-652.649,0,-579.178:633:294:323:9763:8851:294,323 0/1:-593.312,0,-830.582:723:395:316:9283:12044:395,316 . 0/1:-473.423,0,-597.933:552:298:248:7431:8769:298,248 . chr6 152706868 . G A 7628.39 . AB=0.468788;ABP=9.9234;AC=1;AF=0.5;AN=2;AO=383;CIGAR=1X;DP=817;DPB=817;DPRA=0;EPP=15.5345;EPPR=7.85203;GTI=0;LEN=1;MEANALT=2;MQM=40.2742;MQMR=40.7703;NS=1;NUMALT=1;ODDS=1756.5;PAIRED=0.950392;PAIREDR=0.958237;PAO=0;PQA=0;PQR=0;PRO=0;QA=11952;QR=13329;RO=431;RPL=254;RPP=91.5984;RPPR=37.7186;RPR=129;RUN=1;SAF=150;SAP=42.0685;SAR=233;SF=1;SRF=191;SRP=15.1071;SRR=240;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon55:c.C8614T:p.R2872W,SYNE1:NM_182961:exon55:c.C8593T:p.R2865W;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs757720748;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=8.238e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.19;MutationAssessor_pred=M;FATHMM_score=0.58;FATHMM_pred=T;PROVEAN_score=-3.86;PROVEAN_pred=D;VEST3_score=0.75;CADD_raw=7.515;CADD_phred=34;DANN_score=0.998;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.534;MetaSVM_pred=T;MetaLR_score=0.256;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.77;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=15.779;GDI_full_10282015=.;dpsi_max_tissue=-1.6089;dpsi_zscore=-1.761;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.908e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=2.689e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-783.877,0,-910.515:817:431:383:11952:13329:431,383 . . . . chr6 152708293 . A G 11428.30 . AB=0.466121;ABP=16.3997;AC=1;AF=0.5;AN=2;AO=626;CIGAR=1X;DP=1343;DPB=1343;DPRA=0;EPP=5.35521;EPPR=3.1223;GTI=0;LEN=1;MEANALT=3;MQM=38.5831;MQMR=38.7779;NS=1;NUMALT=1;ODDS=2631.46;PAIRED=0.961661;PAIREDR=0.939828;PAO=0;PQA=0;PQR=0;PRO=0;QA=18523;QR=21497;RO=698;RPL=281;RPP=17.2185;RPPR=3.06008;RPR=345;RUN=1;SAF=383;SAP=70.9989;SAR=243;SF=0;SRF=427;SRP=78.7194;SRR=271;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.T8422C:p.Y2808H,SYNE1:NM_182961:exon54:c.T8401C:p.Y2801H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.238;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.882;MutationTaster_pred=D;MutationAssessor_score=1.085;MutationAssessor_pred=L;FATHMM_score=1.35;FATHMM_pred=T;PROVEAN_score=-1.92;PROVEAN_pred=N;VEST3_score=0.172;CADD_raw=2.133;CADD_phred=17.07;DANN_score=0.945;fathmm-MKL_coding_score=0.567;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.056;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.948;phastCons20way_mammalian=0.889;SiPhy_29way_logOdds=8.378;GDI_full_10282015=.;dpsi_max_tissue=-0.0969;dpsi_zscore=-0.440;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1160.33,0,-1399.82:1343:698:626:18523:21497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152708310 . G A 11102.93 . AB=0.465032;ABP=14.7039;AC=52;AF=0.5;AN=98;AO=512;CIGAR=1X;DP=56024;DPB=1101;DPRA=0;EPP=3.84157;EPPR=3.39668;GTI=0;LEN=1;MEANALT=3;MQM=37.7539;MQMR=38.9039;NS=1;NUMALT=1;ODDS=2077.88;PAIRED=0.927734;PAIREDR=0.946619;PAO=0;PQA=0;PQR=0;PRO=0;QA=14943;QR=16915;RO=562;RPL=255;RPP=3.02726;RPPR=8.01782;RPR=257;RUN=1;SAF=292;SAP=24.9965;SAR=220;SF=0,1;SRF=327;SRP=35.7138;SRR=235;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.C8405T:p.A2802V,SYNE1:NM_182961:exon54:c.C8384T:p.A2795V;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1984;esp6500siv2_ea=0.2190;esp6500siv2_all=0.1984;esp6500siv2_ea=0.2190;1000g2015aug_all=0.249002;avsnp147=rs214950;Kaviar_AF=0.232397;Kaviar_AC=35929;Kaviar_AN=154602;ExAC_ALL=0.2373;ExAC_AFR=0.1460;ExAC_AMR=0.1858;ExAC_EAS=0.4186;ExAC_FIN=0.1915;ExAC_NFE=0.2229;ExAC_OTH=0.2588;ExAC_SAS=0.3114;CLNALLELEID=135898;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.094;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.021;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.27;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=0.486;CADD_phred=7.324;DANN_score=0.310;fathmm-MKL_coding_score=0.802;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.029;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=1.51;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=-0.274;phastCons7way_vertebrate=0.180;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=2.148;GDI_full_10282015=.;dpsi_max_tissue=-0.2875;dpsi_zscore=-0.834;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2350;gnomAD_exome_AFR=0.1467;gnomAD_exome_AMR=0.1884;gnomAD_exome_ASJ=0.2014;gnomAD_exome_EAS=0.4212;gnomAD_exome_FIN=0.1849;gnomAD_exome_NFE=0.2241;gnomAD_exome_OTH=0.2231;gnomAD_exome_SAS=0.3137;gnomAD_genome_ALL=0.2061;gnomAD_genome_AFR=0.1555;gnomAD_genome_AMR=0.1866;gnomAD_genome_ASJ=0.2533;gnomAD_genome_EAS=0.4410;gnomAD_genome_FIN=0.1855;gnomAD_genome_NFE=0.2138;gnomAD_genome_OTH=0.2265;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-913.175,0,-1106.31:1101:562:512:14943:16915 . 0/1:-869.394,0,-1060.73:1046:541:478:13995:16359 0/1:-1063.97,0,-1173.65:1206:601:583:16809:18146 0/1:-785.899,0,-1146.95:1012:555:439:12744:17053 0/1:-960.381,0,-1054.14:1109:550:529:15194:16311 . 0/1:-845.012,0,-1155.44:1076:577:479:13831:17208 . 0/1:-738.634,0,-893.759:928:474:428:12199:13978 0/1:-825.501,0,-902.767:927:468:439:12830:13974 . . 0/1:-1884.07,0,-2138.01:2142:1079:1009:29716:32589 0/1:-1061.08,0,-1029.53:1133:546:562:16548:16177 . . . . . . . . . 0/1:-603.24,0,-870.863:820:437:359:10262:13147 . . 0/1:-1146.53,0,-1404.86:1354:692:630:18518:21205 0/1:-1006.93,0,-1083.1:1159:570:565:16042:16789 . . . 0/1:-475.063,0,-602.844:582:304:265:7662:9204 . 0/1:-1018.21,0,-989.486:1077:506:545:15806:15478 . 0/1:-1213.07,0,-1168.41:1275:605:643:18886:18185 . . . 0/1:-1345.43,0,-1317.05:1425:678:710:20570:20510 . . . 0/1:-751.531,0,-808.742:817:398:398:11760:12404 0/1:-1296.95,0,-1224.58:1352:622:696:20005:18976 . . 0/1:-1188.01,0,-1302.44:1341:664:646:18755:20116 1/1:-2804.84,-308.751,0:1218:22:1159:33874:572 . . 0/1:-1089.37,0,-1224.05:1266:635:601:17529:18918 . . 0/1:-918.536,0,-1056.25:1097:543:528:14821:16235 . 0/1:-1218.73,0,-1408.53:1419:710:675:19371:21622 0/1:-793.115,0,-922.274:941:480:434:12663:14409 . . . 0/1:-547.204,0,-604.525:665:330:317:8984:9680 . . . 0/1:-971.1,0,-1057.28:1083:536:522:15404:16152 0/1:-1256.02,0,-1446.93:1445:735:676:19897:22275 . . . . . . 0/1:-678.633,0,-709.17:776:379:379:10628:11332 0/1:-647.554,0,-760.832:788:402:365:10645:11855 . 0/1:-1067.3,0,-1167:1222:603:588:16831:18023 . . 0/1:-845.554,0,-921.23:971:472:469:13525:14284 . 0/1:-784.111,0,-691.625:803:367:416:12267:11172 0/1:-1146.67,0,-1127.55:1247:588:624:17812:17595 . 0/1:-964.171,0,-1001.33:1050:518:508:15058:15626 0/1:-1455.58,0,-1402.78:1492:711:757:22488:21738 . . 0/1:-1114.3,0,-1137.22:1236:589:603:17225:17536 0/1:-1200.44,0,-1141.68:1281:600:648:18848:17802 . . . . 0/1:-866.611,0,-708.123:783:352:413:12716:10761:352,413 . 0/1:-1446.51,0,-1353.17:1397:658:713:21620:20431:658,713 0/1:-1109.89,0,-1309.84:1215:626:567:17128:19278:626,567 . 0/1:-1170.17,0,-1228.85:1180:593:578:17594:18293:593,578 0/1:-1108.07,0,-1303.32:1203:613:566:17118:19234:613,566 1/1:-3232.04,-323.483,0:1281:23:1241:37928:644:23,1241 . 0/1:-1056.78,0,-1283.02:1155:602:535:16218:18875:602,535 0/1:-1218.5,0,-1279.12:1205:596:587:18229:18699:596,587 0/1:-1336.14,0,-1390.49:1319:661:634:19912:20676:661,634 1/1:-3164.22,-351.855,0:1237:7:1208:36899:164:7,1208 . 0/1:-1177.25,0,-1196.42:1167:573:580:17561:17926:573,580 . . chr6 152711406 . G A 4692.19 . AB=0.471675;ABP=8.66896;AC=2;AF=0.5;AN=4;AO=383;CIGAR=1X;DP=1275;DPB=812;DPRA=0;EPP=22.7463;EPPR=29.6439;GTI=0;LEN=1;MEANALT=3;MQM=35.3995;MQMR=37.1825;NS=1;NUMALT=1;ODDS=1367.72;PAIRED=0.929504;PAIREDR=0.905109;PAO=0;PQA=0;PQR=0;PRO=0;QA=10908;QR=12290;RO=411;RPL=97;RPP=205.536;RPPR=114.094;RPR=286;RUN=1;SAF=236;SAP=47.9195;SAR=147;SF=0;SRF=232;SRP=17.8513;SRR=179;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1008;esp6500siv2_ea=0.0015;esp6500siv2_all=0.1008;esp6500siv2_ea=0.0015;1000g2015aug_all=0.0996406;avsnp147=rs56877632;Kaviar_AF=0.0278457;Kaviar_AC=4305;Kaviar_AN=154602;ExAC_ALL=0.0289;ExAC_AFR=0.3127;ExAC_AMR=0.0143;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0010;ExAC_OTH=0.0176;ExAC_SAS=0.0003;CLNALLELEID=135896;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0465;dpsi_zscore=0.282;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0224;gnomAD_exome_AFR=0.3141;gnomAD_exome_AMR=0.0141;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0130;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0869;gnomAD_genome_AFR=0.3037;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0.0154;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-628.827,0,-777.078:812:411:383:10908:12290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-365.906,0,-467.693:463:237:209:6123:7199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152711428 . C T 7968.53 . AB=0.497826;ABP=3.04806;AC=1;AF=0.5;AN=2;AO=458;CIGAR=1X;DP=920;DPB=920;DPRA=0;EPP=56.2825;EPPR=44.4052;GTI=0;LEN=1;MEANALT=3;MQM=36.524;MQMR=37.9122;NS=1;NUMALT=1;ODDS=1834.82;PAIRED=0.90393;PAIREDR=0.954955;PAO=0;PQA=0;PQR=0;PRO=0;QA=13432;QR=13869;RO=444;RPL=287;RPP=66.808;RPPR=71.1085;RPR=171;RUN=1;SAF=273;SAP=39.7262;SAR=185;SF=0;SRF=267;SRP=42.625;SRR=177;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon53:c.G8185A:p.V2729I,SYNE1:NM_182961:exon53:c.G8164A:p.V2722I;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0098;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0098;1000g2015aug_all=0.00319489;avsnp147=rs151091241;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;ExAC_ALL=0.0063;ExAC_AFR=0.0014;ExAC_AMR=0.0016;ExAC_EAS=0.0001;ExAC_FIN=0.0111;ExAC_NFE=0.0090;ExAC_OTH=0.0033;ExAC_SAS=0.0035;CLNALLELEID=195116;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.546;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.407;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=1.36;FATHMM_pred=T;PROVEAN_score=0.09;PROVEAN_pred=N;VEST3_score=0.078;CADD_raw=-0.289;CADD_phred=0.703;DANN_score=0.690;fathmm-MKL_coding_score=0.019;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-12.3;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-3.379;phastCons7way_vertebrate=0.568;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=7.246;GDI_full_10282015=.;dpsi_max_tissue=-0.5919;dpsi_zscore=-1.178;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0062;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0103;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0111;gnomAD_exome_NFE=0.0085;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0.0037;gnomAD_genome_ALL=0.0082;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0113;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-820.248,0,-874.211:920:444:458:13432:13869 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152711429 . G A 6262.12 . AB=0.494647;ABP=3.24279;AC=2;AF=0.5;AN=4;AO=462;CIGAR=1X;DP=1464;DPB=934;DPRA=0;EPP=72.9674;EPPR=19.8453;GTI=0;LEN=1;MEANALT=3;MQM=35.6818;MQMR=37.5056;NS=1;NUMALT=1;ODDS=1844.57;PAIRED=0.935065;PAIREDR=0.893096;PAO=0;PQA=0;PQR=0;PRO=0;QA=13593;QR=13713;RO=449;RPL=268;RPP=28.7484;RPPR=50.4103;RPR=194;RUN=1;SAF=302;SAP=97.7843;SAR=160;SF=0;SRF=251;SRP=16.5953;SRR=198;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon53:c.C8184T:p.S2728S,SYNE1:NM_182961:exon53:c.C8163T:p.S2721S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0564;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0564;esp6500siv2_ea=0.0010;1000g2015aug_all=0.0571086;avsnp147=rs58905396;Kaviar_AF=0.0158342;Kaviar_AC=2448;Kaviar_AN=154602;ExAC_ALL=0.0165;ExAC_AFR=0.1772;ExAC_AMR=0.0081;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0007;ExAC_OTH=0.0099;ExAC_SAS=0.0002;CLNALLELEID=135895;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4311;dpsi_zscore=-1.019;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0130;gnomAD_exome_AFR=0.1827;gnomAD_exome_AMR=0.0083;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.803e-05;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0511;gnomAD_genome_AFR=0.1781;gnomAD_genome_AMR=0.0144;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-827.553,0,-859.981:934:449:462:13593:13713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-466.055,0,-487.45:530:261:252:7546:7678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152712705 . TG TT 108.67 . AB=0.378571;ABP=20.9405;AC=2;AF=0.5;AN=4;AO=53;CIGAR=1M1X;DP=364;DPB=140;DPRA=0;EPP=32.8783;EPPR=24.5973;GTI=0;LEN=1;MEANALT=7;MQM=26.5094;MQMR=30.6176;NS=1;NUMALT=1;ODDS=16.5294;PAIRED=0.981132;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=888;QR=1589;RO=68;RPL=16;RPP=21.0786;RPPR=35.7101;RPR=37;RUN=1;SAF=3;SAP=93.5156;SAR=50;SF=0;SRF=31;SRP=4.1599;SRR=37;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-28.419,0,-80.3053:140:68:53:888:1589 . . . . . 0/1:-42.1067,0,-122.102:224:105:93:1478:2298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152712706 . G T 96.65 . AB=0.364162;ABP=30.7374;AC=15;AF=0.5;AN=30;AO=63;CIGAR=1X;DP=3121;DPB=173;DPRA=0;EPP=24.5527;EPPR=40.1205;GTI=0;LEN=1;MEANALT=3;MQM=21.6032;MQMR=30.809;NS=1;NUMALT=1;ODDS=8.19678;PAIRED=0.968254;PAIREDR=0.921348;PAO=0;PQA=0;PQR=0;PRO=0;QA=1011;QR=1790;RO=89;RPL=25;RPP=8.83536;RPPR=71.5459;RPR=38;RUN=1;SAF=6;SAP=92.6611;SAR=57;SF=0;SRF=46;SRP=3.22989;SRR=43;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.1706;dpsi_zscore=-2.192;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:-23.6005,0,-91.773:173:89:63:1011:1790 . 0/1:-23.1872,0,-72.9282:156:80:61:926:1539 . . 0/1:-47.9884,0,-127.124:238:127:99:1662:2566 . 0/1:-26.9615,0,-143.812:201:119:73:1177:2611 . . . . 0/1:-30.5929,0,-122.147:240:120:86:1403:2496 . . . . . . . . . . . 0/1:-38.161,0,-98.145:163:83:71:1158:1871 0/1:-31.0226,0,-126.035:205:124:74:1192:2434 . . 0/1:-32.2518,0,-63.1875:131:68:56:916:1303 . 0/1:-48.4179,0,-192.898:311:171:126:1909:3661 . . . . . 0/1:-40.9511,0,-134.325:219:121:92:1487:2629 . . . . 0/1:-45.3058,0,-112.178:199:99:88:1420:2088 . . . . . . . . . . . . . . . . . . 0/1:-37.769,0,-141.291:253:142:97:1529:2866 . . . 0/1:-43.1704,0,-129.175:236:131:95:1557:2599 0/1:-22.9641,0,-96.4922:180:91:66:1069:1881 . . . . . . . . . . . . . . 0/1:-35.3695,0,-128.647:216:118:80:1199:2445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152712714 . GG TG,AA,AG 88.51 . AB=0.341615;ABP=38.091;AC=3,5,1;AF=0.5;AN=18;AO=55;CIGAR=1X;DP=872;DPB=161;DPRA=0;EPP=27.6861;EPPR=36.0395;GTI=0;LEN=1;MEANALT=3;MQM=25.3455;MQMR=27.4605;NS=1;NUMALT=1;ODDS=11.7318;PAIRED=0.981818;PAIREDR=0.934211;PAO=0;PQA=0;PQR=0;PRO=0;QA=832;QR=1389;RO=76;RPL=22;RPP=7.78754;RPPR=36.0395;RPR=33;RUN=1;SAF=7;SAP=69.3784;SAR=48;SF=0;SRF=34;SRP=4.83891;SRR=42;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8046;dpsi_zscore=-1.347;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.169728;avsnp147=rs201131946;Kaviar_AF=0.0057697;Kaviar_AC=892;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0029;ExAC_AMR=0.0011;ExAC_EAS=0.0053;ExAC_FIN=0.0027;ExAC_NFE=0.0012;ExAC_OTH=0;ExAC_SAS=0.0034;CLNALLELEID=306728;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2711;dpsi_zscore=0.848;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0081;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0.0123;gnomAD_exome_FIN=0.0110;gnomAD_exome_NFE=0.0046;gnomAD_exome_OTH=0.0075;gnomAD_exome_SAS=0.0048;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0077;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . 0/1:.,.,-58.2865,.,.,.,.,.,.,.:161:76:55,.,.:832,.,.:1389 . . . . . . . . . . . . . 0/3:.,.,.,.,.,.,.,.,.,-21.5945:65:25:.,.,23:.,.,396:472 . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-86.7557,.,.,.,.,.,.,.:192:101:69,.,.:1075,.,.:1856 . . . . . . . . . . . . . . 0/2:-16.7071,.,.,0,.,-2.62092,.,.,.,.:66:8:.,18,.:.,331,.:129 . . . . . . . . . 0/2:-6.35359,.,.,0,.,-0.607376,.,.,.,.:32:6:.,13,.:.,221,.:99 . 0/2:-14.9027,.,.,0,.,-2.94831,.,.,.,.:62:9:.,19,.:.,322,.:138 . . . . . . . . 0/2:-25.5047,.,.,0,.,-8.25781,.,.,.,.:89:14:.,29,.:.,521,.:254 . . . . . 0/1:.,.,-52.4863,.,.,.,.,.,.,.:120:56:37,.,.:531,.,.:1050 . . . 0/2:-26.5045,.,.,0,.,-1.33012,.,.,.,.:85:12:.,37,.:.,658,.:208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152712715 . GAAAAAAAAAAAAAAGAAAAAAAATTAATTCT AAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,TAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,CAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,GAAAAAAAAAAAAAGAAAAAAAATTAATTCT 82.17 . AB=0.483333;ABP=3.15506;AC=9,14,0,0;AF=0.5;AN=50;AO=29;CIGAR=1X;DP=3129;DPB=60;DPRA=0;EPP=65.983;EPPR=46.4397;GTI=0;LEN=1;MEANALT=3;MQM=22.6552;MQMR=27.05;NS=1;NUMALT=1;ODDS=15.5976;PAIRED=0.793103;PAIREDR=0.9;PAO=0;PQA=0;PQR=0;PRO=0;QA=498;QR=344;RO=20;RPL=14;RPP=3.08518;RPPR=38.1882;RPR=15;RUN=1;SAF=14;SAP=3.08518;SAR=15;SF=0,1;SRF=19;SRP=38.1882;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1,1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.169728;avsnp147=rs550804556;Kaviar_AF=0.0057891;Kaviar_AC=895;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=299475;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2336;dpsi_zscore=0.785;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3444;dpsi_zscore=-0.915;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2340;dpsi_zscore=-0.749;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756232172;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;ExAC_ALL=0.2388;ExAC_AFR=0.2394;ExAC_AMR=0.2550;ExAC_EAS=0.1454;ExAC_FIN=0.2297;ExAC_NFE=0.2474;ExAC_OTH=0.2147;ExAC_SAS=0.2255;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0233;gnomAD_genome_AFR=0.0664;gnomAD_genome_AMR=0.0225;gnomAD_genome_ASJ=0.0122;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0391;gnomAD_genome_NFE=0.0032;gnomAD_genome_OTH=0.0123;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 0/1:.,.,-11.9848,.,.,.,.,.,.,.,.,.,.,.,.:60:20:29,.,.,.:498,.,.,.:344 . . . . . . . 0/1:.,.,-24.3771,.,.,.,.,.,.,.,.,.,.,.,.:102:31:44,.,.,.:757,.,.,.:648 . . . . . . . 0/2:.,.,.,.,.,-134.776,.,.,.,.,.,.,.,.,.:257:133:.,80,.,.:.,1226,.,.:2529 0/2:.,.,.,.,.,-4.57005,.,.,.,.,.,.,.,.,.:66:15:.,23,.,.:.,335,.,.:228 . . 0/2:.,.,.,.,.,-67.9954,.,.,.,.,.,.,.,.,.:104:54:.,39,.,.:.,647,.,.:1187 . 0/2:.,.,.,.,.,-73.7635,.,.,.,.,.,.,.,.,.:161:78:.,54,.,.:.,845,.,.:1430 . . . 0/2:.,.,.,.,.,-93.9383,.,.,.,.,.,.,.,.,.:191:98:.,68,.,.:.,1017,.,.:1876 0/2:.,.,.,.,.,-65.1969,.,.,.,.,.,.,.,.,.:156:74:.,50,.,.:.,780,.,.:1336 . 0/1:.,.,-6.53341,.,.,.,.,.,.,.,.,.,.,.,.:59:16:32,.,.,.:496,.,.,.:272 0/2:.,.,.,.,.,-48.2771,.,.,.,.,.,.,.,.,.:144:61:.,47,.,.:.,685,.,.:1089 . . . . . . . . . . . 0/2:.,.,.,.,.,-69.7486,.,.,.,.,.,.,.,.,.:157:71:.,47,.,.:.,685,.,.:1381 . . 0/2:.,.,.,.,.,-74.1935,.,.,.,.,.,.,.,.,.:187:87:.,70,.,.:.,1072,.,.:1562 . . . . . . . . . 0/2:.,.,.,.,.,-85.856,.,.,.,.,.,.,.,.,.:164:83:.,52,.,.:.,781,.,.:1519 . . . . . . 0/1:.,.,-22.8008,.,.,.,.,.,.,.,.,.,.,.,.:77:26:33,.,.,.:503,.,.,.:506 . . 0/1:.,.,-16.4108,.,.,.,.,.,.,.,.,.,.,.,.:71:25:31,.,.,.:517,.,.,.:428 . 0/2:.,.,.,.,.,-44.473,.,.,.,.,.,.,.,.,.:105:47:.,33,.,.:.,502,.,.:850 . . . 0/1:.,.,-16.7364,.,.,.,.,.,.,.,.,.,.,.,.:89:27:39,.,.,.:678,.,.,.:455 . . . . . . . 0/0:0,.,.,-3.63583,.,-118.476,-21.6804,.,-119.692,-141.031,-21.4864,.,-131.658,-149.697,-142.763:169:31:.,22,13,14:.,349,178,200:998:31,14,13,22 . 0/1:-69.3231,0,-18.2089,.,.,.,.,.,.,.,.,.,.,.,.:86:10:7,.,.,.:97,.,.,.:323:10,7 0/2:.,.,-107.991,.,-85.9631,-95.2681,.,-99.7487,-90.3382,-113.873,.,.,.,.,.:143:74:21,32,16,.:415,492,252,.:1465:74,21,16,32 . 0/2:-5.67355,.,.,0,.,-148.607,-19.7705,.,-149.464,-174.091,.,.,.,.,.:169:30:.,27,16,.:.,388,193,.:940:30,16,27 . . . . 0/2:.,.,-76.4788,.,-56.5422,-61.6756,.,-72.1926,-62.5107,-82.4442,.,.,.,.,.:104:54:11,28,11,.:225,468,165,.:1007:54,11,11,28 . . . 0/1:-41.5213,0,-24.5974,.,.,.,.,.,.,.,.,.,.,.,.:97:14:9,.,.,.:136,.,.,.:434:14,9 0/0:0,.,.,-12.0178,.,-43.0084,-22.1012,.,-55.4796,-57.0007,-23.25,.,-63.3245,-73.4036,-58.8259:92:12:.,10,5,7:.,130,74,95:384:12,7,5,10 . 0/1:-33.9979,0,-30.5807,.,.,.,.,.,.,.,.,.,.,.,.:119:20:6,.,.,.:93,.,.,.:632:20,6 chr6 152717896 . T C 4298.77 . AB=0.426696;ABP=24.3401;AC=13;AF=0.5;AN=26;AO=195;CIGAR=1X;DP=5346;DPB=457;DPRA=0;EPP=11.1283;EPPR=6.85616;GTI=0;LEN=1;MEANALT=3;MQM=40.7077;MQMR=39.7711;NS=1;NUMALT=1;ODDS=792.893;PAIRED=0.974359;PAIREDR=0.955823;PAO=0;PQA=0;PQR=0;PRO=0;QA=5723;QR=7636;RO=249;RPL=95;RPP=3.28869;RPPR=4.06551;RPR=100;RUN=1;SAF=149;SAP=121.15;SAR=46;SF=0,1;SRF=194;SRP=171.504;SRR=55;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0248;esp6500siv2_ea=0.0336;esp6500siv2_all=0.0248;esp6500siv2_ea=0.0336;1000g2015aug_all=0.014377;avsnp147=rs78034368;Kaviar_AF=0.0276452;Kaviar_AC=4274;Kaviar_AN=154602;ExAC_ALL=0.0277;ExAC_AFR=0.0061;ExAC_AMR=0.0191;ExAC_EAS=0.0002;ExAC_FIN=0.0206;ExAC_NFE=0.0362;ExAC_OTH=0.0352;ExAC_SAS=0.0297;CLNALLELEID=306736;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0482;dpsi_zscore=-0.257;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0273;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0188;gnomAD_exome_ASJ=0.0267;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0202;gnomAD_exome_NFE=0.0377;gnomAD_exome_OTH=0.0353;gnomAD_exome_SAS=0.0286;gnomAD_genome_ALL=0.0226;gnomAD_genome_AFR=0.0084;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0197;gnomAD_genome_NFE=0.0336;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-366.131,0,-517.228:457:249:195:5723:7636 0/1:-615.91,0,-561.014:592:275:305:9245:8538 . . . . . . . . . . . . . . . . . . . . . . 0/1:-551.182,0,-698.093:637:328:295:8608:10228 . . . 0/1:-145.328,0,-244.137:203:120:81:2369:3521 . . . . . . . . . . . . . . . 0/1:-646.489,0,-670.984:664:327:329:9730:10240 . . . 0/1:-611.028,0,-639.647:624:300:311:9353:9546 . . . . . . . . . 0/1:-312.611,0,-307.978:334:151:173:4752:4678 . . . . 0/1:-713.393,0,-699.963:689:328:347:10576:10550 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-109.195,0,-182.312:132:75:55:1703:2533:75,55 . . . . 0/1:-318.055,0,-285.936:289:137:150:4719:4308:137,150 0/1:-261.58,0,-247.525:247:118:124:3851:3672:118,124 . . . 0/1:-274.887,0,-233.091:247:109:127:3971:3490:109,127 . 0/1:-221.709,0,-268.306:231:119:109:3361:3863:119,109 . . . . chr6 152722303 . A G 6926.91 . AB=0.502646;ABP=3.05626;AC=1;AF=0.5;AN=2;AO=380;CIGAR=1X;DP=756;DPB=756;DPRA=0;EPP=17.2963;EPPR=7.04303;GTI=0;LEN=1;MEANALT=3;MQM=38.6368;MQMR=40.0055;NS=1;NUMALT=1;ODDS=1594.98;PAIRED=0.973684;PAIREDR=0.991758;PAO=0;PQA=0;PQR=0;PRO=0;QA=10942;QR=11298;RO=364;RPL=204;RPP=7.49039;RPPR=4.94315;RPR=176;RUN=1;SAF=211;SAP=13.0905;SAR=169;SF=0;SRF=198;SRP=9.11906;SRR=166;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon47:c.T7020C:p.N2340N,SYNE1:NM_182961:exon47:c.T6999C:p.N2333N;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6832;dpsi_zscore=1.299;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-703.348,0,-746.251:756:364:380:10942:11298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152725470 . TAACTAA TA 2325.39 . AB=0.444245;ABP=18.0231;AC=1;AF=0.5;AN=2;AO=247;CIGAR=1M5D1M;DP=556;DPB=410.143;DPRA=0;EPP=29.6042;EPPR=42.621;GTI=0;LEN=5;MEANALT=28;MQM=34.3279;MQMR=40.2261;NS=1;NUMALT=1;ODDS=535.441;PAIRED=0.939271;PAIREDR=0.992337;PAO=24;PQA=535.5;PQR=1842.5;PRO=67;QA=5579;QR=7754;RO=261;RPL=111;RPP=8.50492;RPPR=18.3936;RPR=136;RUN=1;SAF=61;SAP=140.376;SAR=186;SF=0;SRF=65;SRP=145.787;SRR=196;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-257.506,0,-591.326:556:261:247:5579:7754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152730273 . T C 4467.70 . AB=0.498969;ABP=3.01478;AC=1;AF=0.5;AN=2;AO=242;CIGAR=1X;DP=485;DPB=485;DPRA=0;EPP=8.17876;EPPR=3.61984;GTI=0;LEN=1;MEANALT=3;MQM=37.4628;MQMR=38.5702;NS=1;NUMALT=1;ODDS=1028.73;PAIRED=0.921488;PAIREDR=0.912281;PAO=0;PQA=0;PQR=0;PRO=0;QA=7350;QR=7238;RO=228;RPL=109;RPP=8.17876;RPPR=7.61992;RPR=133;RUN=1;SAF=130;SAP=5.91756;SAR=112;SF=0;SRF=121;SRP=4.877;SRR=107;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon44:c.A6491G:p.K2164R,SYNE1:NM_182961:exon44:c.A6470G:p.K2157R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0251;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0251;esp6500siv2_ea=0.0009;1000g2015aug_all=0.0217652;avsnp147=rs75989452;Kaviar_AF=0.006811;Kaviar_AC=1053;Kaviar_AN=154602;ExAC_ALL=0.0070;ExAC_AFR=0.0736;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0007;ExAC_OTH=0.0055;ExAC_SAS=0;CLNALLELEID=135894;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.882;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.991;MutationTaster_pred=N;MutationAssessor_score=1.845;MutationAssessor_pred=L;FATHMM_score=1.34;FATHMM_pred=T;PROVEAN_score=-1.17;PROVEAN_pred=N;VEST3_score=0.165;CADD_raw=0.551;CADD_phred=7.813;DANN_score=0.993;fathmm-MKL_coding_score=0.921;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.964;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.41;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.144;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=11.416;GDI_full_10282015=.;dpsi_max_tissue=-0.6219;dpsi_zscore=-1.205;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0058;gnomAD_exome_AFR=0.0765;gnomAD_exome_AMR=0.0043;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0234;gnomAD_genome_AFR=0.0808;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-455.487,0,-468.949:485:228:242:7350:7238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152730736 . A G 9246.74 . AB=0.457447;ABP=22.2301;AC=1;AF=0.5;AN=2;AO=559;CIGAR=1X;DP=1222;DPB=1222;DPRA=0;EPP=354.956;EPPR=435.563;GTI=0;LEN=1;MEANALT=3;MQM=40.2433;MQMR=40.289;NS=1;NUMALT=1;ODDS=2129.14;PAIRED=0.978533;PAIREDR=0.979907;PAO=0;PQA=0;PQR=0;PRO=0;QA=15308;QR=19015;RO=647;RPL=323;RPP=32.4126;RPPR=12.4379;RPR=236;RUN=1;SAF=306;SAP=13.922;SAR=253;SF=0;SRF=384;SRP=52.1487;SRR=263;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon43:c.T6360C:p.T2120T,SYNE1:NM_182961:exon43:c.T6339C:p.T2113T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0026;1000g2015aug_all=0.000998403;avsnp147=rs141671123;Kaviar_AF=0.0014101;Kaviar_AC=218;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0002;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0023;ExAC_OTH=0;ExAC_SAS=0.0005;CLNALLELEID=267342;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0415;dpsi_zscore=-0.225;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-975.217,0,-1283.93:1222:647:559:15308:19015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152740681 . TAAAAAAAAAAAAAC TAAAAAAAAAAAAAAC 676.14 . AB=0;ABP=0;AC=8;AF=1;AN=8;AO=82;CIGAR=1M1I14M;DP=675;DPB=203.2;DPRA=0;EPP=3.96363;EPPR=5.3706;GTI=0;LEN=1;MEANALT=21;MQM=32.5488;MQMR=33.0435;NS=1;NUMALT=1;ODDS=131.743;PAIRED=0.963415;PAIREDR=1;PAO=53;PQA=756.5;PQR=756.5;PRO=53;QA=1414;QR=675;RO=23;RPL=47;RPP=6.82362;RPPR=3.86001;RPR=35;RUN=1;SAF=25;SAP=30.1272;SAR=57;SF=0;SRF=7;SRP=10.6577;SRR=16;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.2737;esp6500siv2_ea=0.2008;esp6500siv2_all=0.2737;esp6500siv2_ea=0.2008;1000g2015aug_all=0.35024;avsnp147=rs34651734;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.3554;ExAC_AFR=0.4714;ExAC_AMR=0.2829;ExAC_EAS=0.4281;ExAC_FIN=0.3141;ExAC_NFE=0.3240;ExAC_OTH=0.3239;ExAC_SAS=0.4012;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3950;gnomAD_exome_AFR=0.4793;gnomAD_exome_AMR=0.3668;gnomAD_exome_ASJ=0.4134;gnomAD_exome_EAS=0.4535;gnomAD_exome_FIN=0.3850;gnomAD_exome_NFE=0.3715;gnomAD_exome_OTH=0.3787;gnomAD_exome_SAS=0.4164;gnomAD_genome_ALL=0.3193;gnomAD_genome_AFR=0.5001;gnomAD_genome_AMR=0.1827;gnomAD_genome_ASJ=0.2346;gnomAD_genome_EAS=0.3698;gnomAD_genome_FIN=0.3457;gnomAD_genome_NFE=0.2080;gnomAD_genome_OTH=0.2466;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 1/1:-69.1526,-43.1408,0:164:23:82:1414:675 . . 1/1:-63.0038,-39.6411,0:156:23:71:1305:674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-72.3542,-58.3182,0:143:17:65:1241:485 . . . . . . . . 1/1:-73.2465,-78.9386,0:212:26:81:1542:786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152746593 . A T 6951.38 . AB=0.430785;ABP=43.2902;AC=11;AF=0.5;AN=22;AO=417;CIGAR=1X;DP=8435;DPB=968;DPRA=0;EPP=3.05717;EPPR=3.49241;GTI=0;LEN=1;MEANALT=3;MQM=39.5683;MQMR=39.8495;NS=1;NUMALT=1;ODDS=1689.36;PAIRED=0.947242;PAIREDR=0.965138;PAO=0;PQA=0;PQR=0;PRO=0;QA=12337;QR=16935;RO=545;RPL=124;RPP=151.738;RPPR=4.7674;RPR=293;RUN=1;SAF=172;SAP=30.7604;SAR=245;SF=0,1;SRF=222;SRP=43.6547;SRR=323;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon39:c.T5211A:p.D1737E,SYNE1:NM_182961:exon39:c.T5190A:p.D1730E;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0482;esp6500siv2_ea=0.0516;esp6500siv2_all=0.0482;esp6500siv2_ea=0.0516;1000g2015aug_all=0.0327476;avsnp147=rs111250109;Kaviar_AF=0.0433436;Kaviar_AC=6701;Kaviar_AN=154602;ExAC_ALL=0.0442;ExAC_AFR=0.0358;ExAC_AMR=0.0246;ExAC_EAS=0.0014;ExAC_FIN=0.0496;ExAC_NFE=0.0553;ExAC_OTH=0.0463;ExAC_SAS=0.0386;CLNALLELEID=135892;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.737;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.042;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.14;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_pred=T;PROVEAN_score=-0.19;PROVEAN_pred=N;VEST3_score=0.018;CADD_raw=-0.505;CADD_phred=0.213;DANN_score=0.807;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.974;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=-6.32;phyloP7way_vertebrate=0.042;phyloP20way_mammalian=-0.237;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=5.605;GDI_full_10282015=.;dpsi_max_tissue=0.3091;dpsi_zscore=0.904;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0428;gnomAD_exome_AFR=0.0351;gnomAD_exome_AMR=0.0247;gnomAD_exome_ASJ=0.0663;gnomAD_exome_EAS=0.0013;gnomAD_exome_FIN=0.0494;gnomAD_exome_NFE=0.0539;gnomAD_exome_OTH=0.0487;gnomAD_exome_SAS=0.0361;gnomAD_genome_ALL=0.0481;gnomAD_genome_AFR=0.0337;gnomAD_genome_AMR=0.0274;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0475;gnomAD_genome_NFE=0.0622;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-763.259,0,-1158.77:968:545:417:12337:16935 . . . . 0/1:-785.499,0,-860.14:836:419:413:11951:12918 . . . . . . . . . 0/1:-744.177,0,-743.377:767:374:390:11355:11307 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-721.3,0,-668.187:686:326:358:10786:10199 . . . . . 0/1:-815.121,0,-650.747:729:325:399:11951:10025 . . 0/1:-876.117,0,-1010.81:961:501:457:13555:15212 . . 0/1:-564.593,0,-598.869:618:304:311:9049:9073 . 0/1:-756.883,0,-716.175:737:352:381:11282:10949 . . . . . . 0/1:-675.535,0,-667.388:661:318:341:10084:9976 . . . 0/1:-741.088,0,-993.392:864:470:389:11517:14470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-542.182,0,-750.755:608:338:268:8351:10728:338,268 . . . . . . . . chr6 152746682 . C A 3673.88 . AB=0.506631;ABP=3.1543;AC=1;AF=0.5;AN=2;AO=191;CIGAR=1X;DP=377;DPB=377;DPRA=0;EPP=4.38594;EPPR=9.80795;GTI=0;LEN=1;MEANALT=2;MQM=39.2723;MQMR=40.3098;NS=1;NUMALT=1;ODDS=800.576;PAIRED=0.979058;PAIREDR=0.961957;PAO=0;PQA=0;PQR=0;PRO=0;QA=5926;QR=5616;RO=184;RPL=139;RPP=89.062;RPPR=98.6023;RPR=52;RUN=1;SAF=50;SAP=97.1567;SAR=141;SF=0;SRF=47;SRP=98.6023;SRR=137;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon39:c.G5122T:p.A1708S,SYNE1:NM_182961:exon39:c.G5101T:p.A1701S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0044;1000g2015aug_all=0.000998403;avsnp147=rs149758808;Kaviar_AF=0.0027749;Kaviar_AC=429;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0005;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0.0026;ExAC_NFE=0.0040;ExAC_OTH=0.0033;ExAC_SAS=0.0010;CLNALLELEID=194248;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.447;SIFT_pred=T;Polyphen2_HDIV_score=0.104;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=1.2;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_pred=N;VEST3_score=0.098;CADD_raw=2.163;CADD_phred=17.27;DANN_score=0.798;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.112;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.85;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.927;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.803;SiPhy_29way_logOdds=14.147;GDI_full_10282015=.;dpsi_max_tissue=-0.8069;dpsi_zscore=-1.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0041;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0032;gnomAD_genome_NFE=0.0042;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-393.288,0,-375.317:377:184:191:5926:5616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152749370 . G T 9874.53 . AB=0.472428;ABP=11.0331;AC=1;AF=0.5;AN=2;AO=574;CIGAR=1X;DP=1215;DPB=1215;DPRA=0;EPP=9.06318;EPPR=3.99858;GTI=0;LEN=1;MEANALT=3;MQM=38.3101;MQMR=38.1323;NS=1;NUMALT=1;ODDS=2273.7;PAIRED=0.928571;PAIREDR=0.951181;PAO=0;PQA=0;PQR=0;PRO=0;QA=16091;QR=19271;RO=635;RPL=254;RPP=19.4893;RPPR=3.01372;RPR=320;RUN=1;SAF=241;SAP=35.0301;SAR=333;SF=0;SRF=229;SRP=110.144;SRR=406;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon37:c.C4967A:p.A1656E,SYNE1:NM_182961:exon37:c.C4946A:p.A1649E;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.971;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.115;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.34;FATHMM_pred=T;PROVEAN_score=-0.98;PROVEAN_pred=N;VEST3_score=0.154;CADD_raw=-1.224;CADD_phred=0.006;DANN_score=0.800;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.066;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.556;integrated_confidence_value=0;GERP++_RS=-11.7;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=-0.754;phastCons7way_vertebrate=0.078;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=14.370;GDI_full_10282015=.;dpsi_max_tissue=0.4310;dpsi_zscore=1.058;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1001.66,0,-1250.07:1215:635:574:16091:19271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152749540 . C T 2737.18 . AB=0.437768;ABP=18.6859;AC=1;AF=0.5;AN=2;AO=204;CIGAR=1X;DP=466;DPB=466;DPRA=0;EPP=131.808;EPPR=144.974;GTI=0;LEN=1;MEANALT=3;MQM=37.2304;MQMR=38.3682;NS=1;NUMALT=1;ODDS=630.259;PAIRED=0.970588;PAIREDR=0.974895;PAO=0;PQA=0;PQR=0;PRO=0;QA=5140;QR=6588;RO=239;RPL=136;RPP=52.2303;RPPR=81.5922;RPR=68;RUN=1;SAF=93;SAP=6.45911;SAR=111;SF=0;SRF=113;SRP=4.54578;SRR=126;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0083;1000g2015aug_all=0.00239617;avsnp147=rs142900784;Kaviar_AF=0.0051875;Kaviar_AC=802;Kaviar_AN=154602;ExAC_ALL=0.0052;ExAC_AFR=0.0013;ExAC_AMR=0.0010;ExAC_EAS=0.0001;ExAC_FIN=0.0109;ExAC_NFE=0.0077;ExAC_OTH=0.0033;ExAC_SAS=0.0013;CLNALLELEID=274077;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2040;dpsi_zscore=-1.581;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0052;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0103;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0110;gnomAD_exome_NFE=0.0073;gnomAD_exome_OTH=0.0042;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0071;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-300.351,0,-426.267:466:239:204:5140:6588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152751218 . ATAGTAGA ATAGA 1380.11 . AB=0.437346;ABP=16.8874;AC=32;AF=0.5;AN=58;AO=178;CIGAR=1M3D4M;DP=9386;DPB=367.5;DPRA=0;EPP=145.303;EPPR=109.455;GTI=0;LEN=3;MEANALT=17;MQM=40.1292;MQMR=41.0392;NS=1;NUMALT=1;ODDS=331.76;PAIRED=1;PAIREDR=0.970588;PAO=35;PQA=730.5;PQR=545.5;PRO=26;QA=3312;QR=5509;RO=204;RPL=107;RPP=18.8206;RPPR=43.9277;RPR=71;RUN=1;SAF=132;SAP=93.2362;SAR=46;SF=0,1;SRF=137;SRP=55.1682;SRR=67;TYPE=del;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1432;esp6500siv2_ea=0.1354;esp6500siv2_all=0.1432;esp6500siv2_ea=0.1354;1000g2015aug_all=.;avsnp147=rs71659863;Kaviar_AF=0.0039391;Kaviar_AC=609;Kaviar_AN=154602;ExAC_ALL=0.2132;ExAC_AFR=0.2048;ExAC_AMR=0.1486;ExAC_EAS=0.4719;ExAC_FIN=0.2234;ExAC_NFE=0.1868;ExAC_OTH=0.2030;ExAC_SAS=0.1838;CLNALLELEID=252202;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1507;gnomAD_exome_AFR=0.1625;gnomAD_exome_AMR=0.0792;gnomAD_exome_ASJ=0.1249;gnomAD_exome_EAS=0.3791;gnomAD_exome_FIN=0.1685;gnomAD_exome_NFE=0.1288;gnomAD_exome_OTH=0.1312;gnomAD_exome_SAS=0.1647;gnomAD_genome_ALL=0.1553;gnomAD_genome_AFR=0.1663;gnomAD_genome_AMR=0.0909;gnomAD_genome_ASJ=0.1291;gnomAD_genome_EAS=0.3677;gnomAD_genome_FIN=0.1628;gnomAD_genome_NFE=0.1291;gnomAD_genome_OTH=0.1459;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-177.627,0,-350.043:407:204:178:3312:5509 . . 0/1:-177.749,0,-270.411:340:159:164:3145:4108 . . . . . . . . . 0/1:-206.19,0,-418.6:454:222:201:3596:6077 0/1:-118.069,0,-321.597:331:170:132:2343:4600 . . 1/1:-394.155,-83.9,0:228:1:217:4127:35 0/1:-114.946,0,-314.262:334:168:143:2473:4557 . 0/1:-78.1726,0,-233.78:260:136:100:1796:3585 . . 0/1:-75.444,0,-325.521:310:171:116:2014:4579 . . . . . . . . 0/1:-156.274,0,-363.293:378:196:160:3095:5240 . . . . . . . . 0/1:-161.546,0,-311.622:361:168:167:3094:4465 . . . . . . 0/1:-91.8804,0,-345.537:343:183:134:2382:5002 . . . . 0/1:-108.254,0,-283.259:299:156:122:2339:4161 . . . . . . . . . . 0/1:-101.543,0,-263.799:294:151:127:2134:4062 . 1/1:-386.526,-80.9531,0:262:4:239:4255:98 . . . 0/1:-214.198,0,-477.725:517:259:219:4084:7127 . . 0/1:-159.827,0,-323.525:402:191:180:3226:5127 . 1/1:-608.86,-118.513,0:382:5:355:6522:147 . . . 0/1:-108.104,0,-318.831:317:163:126:2204:4583 0/1:-169.876,0,-395.745:420:204:184:3268:5471 0/1:-129.698,0,-335.974:380:186:160:2800:5016 0/1:-161.512,0,-254.56:352:153:165:2934:4084 . . 0/1:-245.455,0,-252.445:395:153:214:4245:4126 . 0/1:-205.146,0,-383.629:433:214:184:3633:5831 0/1:-257.798,0,-418.749:505:224:235:4433:6242 0/1:-130.956,0,-196.871:284:117:137:2486:3083 . . . . 0/1:-33.1052,0,-73.0494:69:34:31:594:1041:34,31 . . . . . 0/1:-45.7586,0,-113.394:108:57:44:881:1674:57,44 . . . . . . . 0/1:-51.9097,0,-66.7202:86:37:45:884:1051:37,45 . 0/1:-60.9113,0,-134.537:135:67:57:1161:1994:67,57 . . . chr6 152751241 . T A 5604.80 . AB=0.462209;ABP=11.5447;AC=1;AF=0.5;AN=2;AO=318;CIGAR=1X;DP=688;DPB=688;DPRA=0;EPP=7.62639;EPPR=12.0098;GTI=0;LEN=1;MEANALT=3;MQM=39.2673;MQMR=40.2044;NS=1;NUMALT=1;ODDS=1290.55;PAIRED=0.968553;PAIREDR=0.972752;PAO=0;PQA=0;PQR=0;PRO=0;QA=9411;QR=10557;RO=367;RPL=86;RPP=148.567;RPPR=164.096;RPR=232;RUN=1;SAF=222;SAP=111.42;SAR=96;SF=0;SRF=233;SRP=61.001;SRR=134;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1420;dpsi_zscore=0.597;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.57e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.07e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-595.438,0,-706.527:688:367:318:9411:10557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152757224 . G A 7539.45 . AB=0.440476;ABP=36.6164;AC=3;AF=0.5;AN=6;AO=481;CIGAR=1X;DP=3151;DPB=1092;DPRA=0;EPP=157.519;EPPR=234.609;GTI=0;LEN=1;MEANALT=3;MQM=39.3638;MQMR=40.1058;NS=1;NUMALT=1;ODDS=1851.34;PAIRED=0.985447;PAIREDR=0.986348;PAO=0;PQA=0;PQR=0;PRO=0;QA=13775;QR=16905;RO=586;RPL=173;RPP=85.287;RPPR=151.234;RPR=308;RUN=1;SAF=131;SAP=219.53;SAR=350;SF=0;SRF=167;SRP=238.33;SRR=419;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon33:c.C4183T:p.R1395W,SYNE1:NM_182961:exon33:c.C4162T:p.R1388W;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0057;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0057;1000g2015aug_all=0.00239617;avsnp147=rs34028822;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0010;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0041;ExAC_OTH=0.0044;ExAC_SAS=0.0027;CLNALLELEID=265543;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.901;MutationTaster_pred=D;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=0.6;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_pred=N;VEST3_score=0.62;CADD_raw=6.572;CADD_phred=31;DANN_score=0.999;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_pred=D;MetaSVM_score=0.464;MetaSVM_pred=D;MetaLR_score=0.685;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.04;phyloP7way_vertebrate=-0.020;phyloP20way_mammalian=0.045;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=14.809;GDI_full_10282015=.;dpsi_max_tissue=-0.0919;dpsi_zscore=-0.424;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0028;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0.0030;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=8.981e-05;gnomAD_exome_NFE=0.0043;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0024;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0041;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-860.766,0,-1139.03:1092:586:481:13775:16905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-720.547,0,-1001.29:944:519:404:11619:14821 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-836.552,0,-1217.19:1115:622:475:13678:17787 . . . . . . . . . . . . . . . . . . . . . chr6 152763258 . T C 6129.98 . AB=0.466151;ABP=13.3006;AC=8;AF=0.5;AN=16;AO=482;CIGAR=1X;DP=6492;DPB=1034;DPRA=0;EPP=3.29863;EPPR=3.60933;GTI=0;LEN=1;MEANALT=3;MQM=33.6452;MQMR=35.6858;NS=1;NUMALT=1;ODDS=1794.2;PAIRED=0.887967;PAIREDR=0.867816;PAO=0;PQA=0;PQR=0;PRO=0;QA=14043;QR=14721;RO=522;RPL=244;RPP=3.17248;RPPR=11.8127;RPR=238;RUN=1;SAF=279;SAP=29.0319;SAR=203;SF=0;SRF=295;SRP=22.2457;SRR=227;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon31:c.A3981G:p.T1327T,SYNE1:NM_182961:exon31:c.A3960G:p.T1320T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0161;esp6500siv2_ea=0.0184;esp6500siv2_all=0.0161;esp6500siv2_ea=0.0184;1000g2015aug_all=0.0127796;avsnp147=rs138705766;Kaviar_AF=0.0181304;Kaviar_AC=2803;Kaviar_AN=154602;ExAC_ALL=0.0193;ExAC_AFR=0.0113;ExAC_AMR=0.0115;ExAC_EAS=0;ExAC_FIN=0.0307;ExAC_NFE=0.0227;ExAC_OTH=0.0278;ExAC_SAS=0.0212;CLNALLELEID=135890;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6784;dpsi_zscore=1.295;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0187;gnomAD_exome_AFR=0.0111;gnomAD_exome_AMR=0.0112;gnomAD_exome_ASJ=0.0365;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0324;gnomAD_exome_NFE=0.0203;gnomAD_exome_OTH=0.0219;gnomAD_exome_SAS=0.0196;gnomAD_genome_ALL=0.0212;gnomAD_genome_AFR=0.0097;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.05;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0312;gnomAD_genome_NFE=0.0275;gnomAD_genome_OTH=0.0266;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-790.127,0,-865.497:1034:522:482:14043:14721 . . . . . . . . . . . . . . 0/1:-527.134,0,-621.055:756:392:334:9723:10788 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-606.008,0,-711.035:816:414:367:10781:11799 . . . . . 0/1:-564.563,0,-593.51:722:363:336:9770:9925 . . . . . 0/1:-472.225,0,-511.819:641:324:294:8451:8974 . 0/1:-780.862,0,-759.496:969:459:459:13458:12859 . . . . . . 0/1:-518.763,0,-538.213:692:340:322:9287:9324 . . . 0/1:-723.73,0,-650.544:862:408:426:12292:10979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152765579 . C T 5436.38 . AB=0.469512;ABP=8.30657;AC=2;AF=0.5;AN=4;AO=308;CIGAR=1X;DP=1275;DPB=656;DPRA=0;EPP=94.6352;EPPR=32.108;GTI=0;LEN=1;MEANALT=3;MQM=38.3636;MQMR=38.3642;NS=1;NUMALT=1;ODDS=1245.28;PAIRED=0.967532;PAIREDR=0.985075;PAO=0;PQA=0;PQR=0;PRO=0;QA=8936;QR=10012;RO=335;RPL=166;RPP=7.07124;RPPR=3.79462;RPR=142;RUN=1;SAF=171;SAP=11.1604;SAR=137;SF=0,1;SRF=201;SRP=32.108;SRR=134;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon30:c.G3825A:p.L1275L,SYNE1:NM_182961:exon30:c.G3804A:p.L1268L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0124;1000g2015aug_all=0.00678914;avsnp147=rs139524103;Kaviar_AF=0.0093595;Kaviar_AC=1447;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0014;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0.0030;ExAC_NFE=0.0132;ExAC_OTH=0.0077;ExAC_SAS=0.0039;CLNALLELEID=135887;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4707;dpsi_zscore=1.766;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0091;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0085;gnomAD_exome_ASJ=0.0160;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0135;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0039;gnomAD_genome_ALL=0.0076;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0130;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-559.167,0,-648.723:656:335:308:8936:10012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-573.446,0,-692.636:619:327:282:8923:10141:327,282 . . . . . . . . . . . . . . . . . . chr6 152765725 . TGAAAAAAAAAAACACGT TTAAAAAAAAAAACACGT,TGAAAAAAAAAACACGT 223.26 . AB=0.218579;ABP=128.896;AC=4,2;AF=0.5;AN=12;AO=40;CIGAR=1M1X16M;DP=945;DPB=183.389;DPRA=0;EPP=6.48466;EPPR=10.7579;GTI=0;LEN=1;MEANALT=38;MQM=34.325;MQMR=39.716;NS=1;NUMALT=1;ODDS=0.543304;PAIRED=0.95;PAIREDR=0.950617;PAO=0.333333;PQA=4.66667;PQR=13.6667;PRO=0.833333;QA=676;QR=2559;RO=81;RPL=16;RPP=6.48466;RPPR=10.7579;RPR=24;RUN=1;SAF=0;SAP=89.8692;SAR=40;SF=1;SRF=0;SRP=178.9;SRR=81;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-7.9995;dpsi_zscore=-2.784;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1541;esp6500siv2_ea=0.1587;esp6500siv2_all=0.1541;esp6500siv2_ea=0.1587;1000g2015aug_all=.;avsnp147=rs111322292;Kaviar_AF=0.0006404;Kaviar_AC=99;Kaviar_AN=154602;ExAC_ALL=0.2126;ExAC_AFR=0.1732;ExAC_AMR=0.2234;ExAC_EAS=0.1883;ExAC_FIN=0.1712;ExAC_NFE=0.2367;ExAC_OTH=0.2051;ExAC_SAS=0.1702;CLNALLELEID=299490;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1445;gnomAD_exome_AFR=0.1067;gnomAD_exome_AMR=0.1265;gnomAD_exome_ASJ=0.1238;gnomAD_exome_EAS=0.0780;gnomAD_exome_FIN=0.1157;gnomAD_exome_NFE=0.1741;gnomAD_exome_OTH=0.1415;gnomAD_exome_SAS=0.1236;gnomAD_genome_ALL=0.0364;gnomAD_genome_AFR=0.0220;gnomAD_genome_AMR=0.0296;gnomAD_genome_ASJ=0.0312;gnomAD_genome_EAS=0.0038;gnomAD_genome_FIN=0.0581;gnomAD_genome_NFE=0.0478;gnomAD_genome_OTH=0.0352;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-20.9542,0,-182.125,.,.,.:183:81:40,.:676,.:2559:81,40 . . . . . . . 0/2:-86.8786,.,.,0,.,-79.4402:175:42:.,60:.,1334:1312:42,60 0/2:-68.6697,.,.,0,.,-89.9377:156:42:.,46:.,1084:1304:42,46 0/1:-31.5194,0,-140.307,.,.,.:147:63:37,.:709,.:1963:63,37 . . . 0/1:-20.5053,0,-167.878,.,.,.:177:77:39,.:679,.:2434:77,39 . . 0/1:.,.,-95.879,.,.,.:107:61:38,.:674,.:1498:61,38 chr6 152765726 . GAAAAAAAAAAAC TAAAAAAAAAAAC,GAAAAAAAAAAC 277.83 . AB=0.349754;ABP=42.8135;AC=17,3;AF=0.5;AN=40;AO=71;CIGAR=1X;DP=5916;DPB=203;DPRA=0;EPP=49.5287;EPPR=80.9922;GTI=0;LEN=1;MEANALT=3;MQM=32.831;MQMR=37.288;NS=1;NUMALT=1;ODDS=17.7735;PAIRED=0.971831;PAIREDR=0.952;PAO=0;PQA=0;PQR=0;PRO=0;QA=1184;QR=2823;RO=125;RPL=20;RPP=32.4016;RPPR=3.16665;RPR=51;RUN=1;SAF=4;SAP=124.399;SAR=67;SF=0;SRF=32;SRP=67.6507;SRR=93;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-7.9995;dpsi_zscore=-2.784;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1541;esp6500siv2_ea=0.1587;esp6500siv2_all=0.1541;esp6500siv2_ea=0.1587;1000g2015aug_all=.;avsnp147=rs111322292;Kaviar_AF=0.0006404;Kaviar_AC=99;Kaviar_AN=154602;ExAC_ALL=0.2126;ExAC_AFR=0.1732;ExAC_AMR=0.2234;ExAC_EAS=0.1883;ExAC_FIN=0.1712;ExAC_NFE=0.2367;ExAC_OTH=0.2051;ExAC_SAS=0.1702;CLNALLELEID=299490;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1445;gnomAD_exome_AFR=0.1067;gnomAD_exome_AMR=0.1265;gnomAD_exome_ASJ=0.1238;gnomAD_exome_EAS=0.0780;gnomAD_exome_FIN=0.1157;gnomAD_exome_NFE=0.1741;gnomAD_exome_OTH=0.1415;gnomAD_exome_SAS=0.1236;gnomAD_genome_ALL=0.0364;gnomAD_genome_AFR=0.0220;gnomAD_genome_AMR=0.0296;gnomAD_genome_ASJ=0.0312;gnomAD_genome_EAS=0.0038;gnomAD_genome_FIN=0.0581;gnomAD_genome_NFE=0.0478;gnomAD_genome_OTH=0.0352;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . 0/1:.,.,-177.489,.,.,.:203:125:71,.:1184,.:2823 . . 0/2:-137.195,.,.,0,.,-153.335:293:88:.,105:.,2256:2546 . . . 0/1:.,.,-277.161,.,.,.:304:193:93,.:1596,.:4406 . 0/1:.,.,-243.147,.,.,.:288:176:103,.:1773,.:3921 0/1:.,.,-232.875,.,.,.:299:167:115,.:1915,.:3714 . . . . 0/1:.,.,-293.839,.,.,.:330:214:104,.:1737,.:4515 . . . . 0/1:.,.,-309.281,.,.,.:360:223:124,.:2081,.:4955 . . . 0/1:.,.,-348.93,.,.,.:377:244:116,.:2092,.:5360 . . . . . . . . 0/1:.,.,-171.631,.,.,.:204:120:76,.:1289,.:2732 . . 0/1:.,.,-161.484,.,.,.:179:113:59,.:1082,.:2561 0/1:.,.,-324.249,.,.,.:365:232:119,.:1978,.:5055 . . . . . . . 0/1:.,.,-185.233,.,.,.:251:141:103,.:1664,.:3052 . . 0/2:-159.037,.,.,0,.,-187.734:368:105:.,119:.,2587:3083 . 0/1:.,.,-314.884,.,.,.:306:204:90,.:1557,.:4780 0/2:-152.794,.,.,0,.,-143.63:306:87:.,113:.,2438:2473 . . . 0/1:.,.,-213.67,.,.,.:246:155:78,.:1421,.:3414 . . . . . 0/1:.,.,-315.124,.,.,.:336:218:110,.:1848,.:4841 . 0/1:.,.,-165.173,.,.,.:210:120:76,.:1385,.:2628 . . . . . . . . . . . . . . . 0/1:.,.,-328.164,.,.,.:371:235:124,.:2114,.:5219 . . . . . . . . . 0/1:.,.,-269.379,.,.,.:320:200:107,.:1862,.:4228 . . . . . . . . . . . . . . . . . . . . . . . chr6 152768761 . A G 7780.00 . AB=0.481928;ABP=5.60037;AC=1;AF=0.5;AN=2;AO=440;CIGAR=1X;DP=913;DPB=913;DPRA=0;EPP=9.40627;EPPR=3.05325;GTI=0;LEN=1;MEANALT=3;MQM=38.5591;MQMR=40.167;NS=1;NUMALT=1;ODDS=1791.41;PAIRED=0.984091;PAIREDR=0.978022;PAO=0;PQA=0;PQR=0;PRO=0;QA=13200;QR=14350;RO=455;RPL=280;RPP=74.0767;RPPR=37.4914;RPR=160;RUN=1;SAF=54;SAP=546.984;SAR=386;SF=0;SRF=66;SRP=500.917;SRR=389;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-14.3466;dpsi_zscore=-3.066;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-854.832,0,-961.297:913:455:440:13200:14350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152770645 . G A 7345.91 . AB=0.408578;ABP=67.331;AC=12;AF=0.5;AN=22;AO=362;CIGAR=1X;DP=8153;DPB=886;DPRA=0;EPP=10.7844;EPPR=48.3758;GTI=0;LEN=1;MEANALT=3;MQM=39.4972;MQMR=40.3715;NS=1;NUMALT=1;ODDS=1479.26;PAIRED=0.98895;PAIREDR=0.959839;PAO=0;PQA=0;PQR=0;PRO=0;QA=10732;QR=14906;RO=498;RPL=210;RPP=23.1894;RPPR=3.16727;RPR=152;RUN=1;SAF=177;SAP=3.39421;SAR=185;SF=0,1;SRF=232;SRP=8.05091;SRR=266;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0278;esp6500siv2_ea=0.0345;esp6500siv2_all=0.0278;esp6500siv2_ea=0.0345;1000g2015aug_all=0.0185703;avsnp147=rs17366321;Kaviar_AF=0.0277163;Kaviar_AC=4285;Kaviar_AN=154602;ExAC_ALL=0.0288;ExAC_AFR=0.0148;ExAC_AMR=0.0198;ExAC_EAS=0;ExAC_FIN=0.0378;ExAC_NFE=0.0360;ExAC_OTH=0.0387;ExAC_SAS=0.0256;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0339;dpsi_zscore=0.219;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0291;gnomAD_exome_AFR=0.0155;gnomAD_exome_AMR=0.0213;gnomAD_exome_ASJ=0.0787;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0390;gnomAD_exome_NFE=0.0326;gnomAD_exome_OTH=0.0363;gnomAD_exome_SAS=0.0237;gnomAD_genome_ALL=0.0302;gnomAD_genome_AFR=0.0142;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0395;gnomAD_genome_NFE=0.0394;gnomAD_genome_OTH=0.0378;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-657.653,0,-1027.92:886:498:362:10732:14906 . . . . . . . . . 0/1:-773.092,0,-734.687:793:372:395:11777:11285 . . . . 0/1:-482.07,0,-656.16:614:326:268:7797:9788 . . . . . . 0/1:-792.11,0,-918.588:865:441:414:12392:13613 . . . . . . . . . . . . . . . . . . 0/1:-676.437,0,-751.994:749:368:350:10516:11269 . . . . . 0/1:-520.771,0,-639.845:602:314:270:8151:9572 . . . . . 0/1:-486.804,0,-556.643:587:290:276:7773:8575 . 0/1:-790.36,0,-900.116:837:429:389:11991:13412 . . . . . . 1/1:-1560.88,-167.146,0:674:13:646:18789:353 . . . 0/1:-762.641,0,-834.766:843:422:395:11773:12759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-721.283,0,-756.819:703:352:347:10908:11188:352,347 . . . . . . chr6 152771849 . G A 10876.61 . AB=0.455714;ABP=26.8593;AC=15;AF=0.5;AN=28;AO=638;CIGAR=1X;DP=15361;DPB=1400;DPRA=0;EPP=5.67869;EPPR=3.24767;GTI=0;LEN=1;MEANALT=3;MQM=37.9781;MQMR=37.919;NS=1;NUMALT=1;ODDS=2751.18;PAIRED=0.901254;PAIREDR=0.897436;PAO=0;PQA=0;PQR=0;PRO=0;QA=19500;QR=23539;RO=741;RPL=357;RPP=22.6693;RPPR=99.0152;RPR=281;RUN=1;SAF=362;SAP=28.183;SAR=276;SF=0,1;SRF=420;SRP=31.7318;SRR=321;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon27:c.C3327T:p.H1109H,SYNE1:NM_182961:exon27:c.C3306T:p.H1102H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0715;esp6500siv2_ea=0.0680;esp6500siv2_all=0.0715;esp6500siv2_ea=0.0680;1000g2015aug_all=0.048722;avsnp147=rs17082701;Kaviar_AF=0.0556655;Kaviar_AC=8606;Kaviar_AN=154602;ExAC_ALL=0.0576;ExAC_AFR=0.0770;ExAC_AMR=0.0333;ExAC_EAS=0.0006;ExAC_FIN=0.0567;ExAC_NFE=0.0687;ExAC_OTH=0.0584;ExAC_SAS=0.0483;CLNALLELEID=135885;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2552;dpsi_zscore=-0.784;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0560;gnomAD_exome_AFR=0.0742;gnomAD_exome_AMR=0.0352;gnomAD_exome_ASJ=0.1067;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0562;gnomAD_exome_NFE=0.0663;gnomAD_exome_OTH=0.0634;gnomAD_exome_SAS=0.0456;gnomAD_genome_ALL=0.0657;gnomAD_genome_AFR=0.0709;gnomAD_genome_AMR=0.0394;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0558;gnomAD_genome_NFE=0.0729;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1209.42,0,-1516.78:1400:741:638:19500:23539 . . . . 0/1:-909.497,0,-1004.76:1012:491:499:14589:15525 . . . . 0/1:-1243.48,0,-1206.36:1252:600:636:19778:18870 . . . . 0/1:-844.596,0,-698.854:833:364:449:13448:11419 . . . . . . 0/1:-1238.18,0,-1619.26:1414:761:631:19597:23976 . . . . . . . . . . . . . . . . . . 0/1:-1095.73,0,-1060.77:1143:543:570:17175:17059 . . . . . 0/1:-764.139,0,-949.45:877:457:408:12226:14453 . . 0/1:-888.53,0,-1043.22:1072:531:511:14743:16610 . . 0/1:-803.015,0,-977.409:974:496:457:13419:15431 . 0/1:-1052.51,0,-1309.99:1235:638:566:16910:19960 . . . . . . 1/1:-1840.5,-195.99,0:803:14:769:23086:468 . . . 0/1:-1161.33,0,-1230.56:1217:599:599:18210:18613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1114.91,0,-1037.23:988:476:504:16291:15291:476,504 . 0/1:-1222.71,0,-1183.51:1141:545:574:18184:17397:545,574 . . . . . . chr6 152772264 . A G 14232.62 . AB=0.542831;ABP=20.1233;AC=99;AF=0.5;AN=158;AO=583;CIGAR=1X;DP=96097;DPB=1074;DPRA=0;EPP=36.6253;EPPR=4.06101;GTI=0;LEN=1;MEANALT=3;MQM=36.8593;MQMR=37.3118;NS=1;NUMALT=1;ODDS=1956.92;PAIRED=0.900515;PAIREDR=0.903226;PAO=0;PQA=0;PQR=0;PRO=0;QA=16650;QR=14423;RO=465;RPL=349;RPP=52.2688;RPPR=27.8958;RPR=234;RUN=1;SAF=357;SAP=66.9291;SAR=226;SF=0,1;SRF=271;SRP=30.6977;SRR=194;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon26:c.T3125C:p.V1042A,SYNE1:NM_182961:exon26:c.T3104C:p.V1035A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5325;esp6500siv2_ea=0.4295;esp6500siv2_all=0.5325;esp6500siv2_ea=0.4295;1000g2015aug_all=0.607228;avsnp147=rs214976;Kaviar_AF=0.471094;Kaviar_AC=72832;Kaviar_AN=154602;ExAC_ALL=0.4811;ExAC_AFR=0.7486;ExAC_AMR=0.3196;ExAC_EAS=0.7569;ExAC_FIN=0.4079;ExAC_NFE=0.4291;ExAC_OTH=0.5066;ExAC_SAS=0.5196;CLNALLELEID=135884;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.164;Polyphen2_HVAR_pred=B;LRT_score=0.325;LRT_pred=N;MutationTaster_score=0.499;MutationTaster_pred=P;MutationAssessor_score=1.955;MutationAssessor_pred=M;FATHMM_score=0.55;FATHMM_pred=T;PROVEAN_score=-2.35;PROVEAN_pred=N;VEST3_score=0.276;CADD_raw=3.767;CADD_phred=23.4;DANN_score=0.997;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=0.108;MetaSVM_pred=D;MetaLR_score=0.536;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.84;phyloP7way_vertebrate=1.058;phyloP20way_mammalian=1.192;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.560;GDI_full_10282015=.;dpsi_max_tissue=1.3077;dpsi_zscore=1.689;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4674;gnomAD_exome_AFR=0.7529;gnomAD_exome_AMR=0.3251;gnomAD_exome_ASJ=0.4872;gnomAD_exome_EAS=0.7634;gnomAD_exome_FIN=0.3989;gnomAD_exome_NFE=0.4232;gnomAD_exome_OTH=0.4484;gnomAD_exome_SAS=0.5217;gnomAD_genome_ALL=0.5270;gnomAD_genome_AFR=0.7437;gnomAD_genome_AMR=0.3565;gnomAD_genome_ASJ=0.5302;gnomAD_genome_EAS=0.7779;gnomAD_genome_FIN=0.3912;gnomAD_genome_NFE=0.4198;gnomAD_genome_OTH=0.4491;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1055.77,0,-865.347:1074:465:583:16650:14423 0/1:-1255.4,0,-1500.63:1506:757:703:20455:23512 0/1:-951.273,0,-1394.7:1262:694:539:15883:21288 . 1/1:-2932.98,-333.376,0:1322:23:1254:35831:647 0/1:-1295.8,0,-1647.01:1613:846:743:21633:25905 1/1:-2145.09,-245.831,0:946:13:903:26170:363 0/1:-1206.11,0,-1354.38:1399:697:665:19427:21431 0/1:-747.361,0,-1027.76:973:520:428:12573:16196 1/1:-3317.96,-382.873,0:1461:24:1406:40831:609 . 1/1:-2858.54,-323.5,0:1238:17:1195:34606:498 . 0/1:-967.673,0,-1006.84:1114:523:564:16103:16503 . 0/1:-1348.77,0,-1702.17:1636:836:762:21799:26360 1/1:-2159.36,-270.199,0:968:5:929:26564:145 0/1:-2017.14,0,-2451.09:2363:1212:1109:32666:38071 0/1:-1169.18,0,-1249.14:1303:637:643:18568:19574 0/1:-695.342,0,-1066.18:992:541:427:11894:16529 0/1:-747.134,0,-964.95:956:498:437:12305:15398 . 1/1:-1694.71,-202.762,0:760:8:731:21048:236 0/1:-1329.69,0,-1615.91:1599:816:752:21892:25261 . 0/1:-802.029,0,-903.621:1004:485:491:13832:14666 . 0/1:-1231.4,0,-1250.32:1369:675:662:19255:20766 . . . 0/1:-1310.98,0,-1586.25:1579:797:737:21325:24953 0/1:-1070.1,0,-1234.86:1262:629:595:17266:19386 . 0/1:-1258.98,0,-1166.01:1334:621:686:19825:19006 . 1/1:-1694.6,-201.159,0:751:8:722:20798:219 . 0/1:-855.31,0,-1207.98:1155:614:510:14664:19068 . 0/1:-1175.54,0,-1541.48:1476:774:674:19303:24050 . 0/1:-985.528,0,-1209.45:1174:592:555:16020:18989 0/1:-926.102,0,-1264.44:1197:635:538:15424:19671 0/1:-1417.25,0,-1415.62:1532:756:748:22147:23009 . 0/1:-1039.32,0,-1258.16:1230:632:567:16638:19882 . 1/1:-2283.4,-264.018,0:998:10:957:27781:322 0/1:-1083.5,0,-1527.37:1425:772:630:18179:23861 0/1:-962.895,0,-1309.79:1234:654:546:15920:20207 0/1:-920.854,0,-1217.46:1212:636:550:15518:19436 0/1:-1050.08,0,-1612.39:1440:791:608:17616:24744 1/1:-2925.57,-328.23,0:1298:22:1240:35701:635 0/1:-683.94,0,-847.028:896:456:419:12072:13887 0/1:-771.896,0,-951.996:943:485:431:12723:14790 1/1:-2721.08,-327.273,0:1183:9:1144:32766:289 . . . . 0/1:-1298.25,0,-1373.47:1493:734:726:21246:22664 0/1:-824.759,0,-1031.88:1047:551:475:13660:16793 1/1:-1990.87,-241.41,0:901:8:854:24447:214 . . 1/1:-1572.28,-198.719,0:705:3:677:19259:95 0/1:-1146.93,0,-1116.4:1248:588:630:17944:17997 1/1:-2337.31,-265.356,0:1025:13:981:28717:394 . 0/1:-1032,0,-1167.41:1222:607:578:17064:18539 0/1:-1290.61,0,-1472.2:1502:753:718:20791:23513 0/1:-1320.5,0,-1158.16:1323:593:701:20303:18467 . . 0/1:-1206.55,0,-1546.46:1510:773:695:19912:23779 . 1/1:-3128.68,-359.722,0:1345:17:1293:37600:455 0/1:-707.566,0,-820.617:819:425:383:11539:13170 0/1:-606.374,0,-980.438:854:485:349:10291:14714 . 0/1:-1111.07,0,-1446.94:1418:730:648:18622:22509 0/1:-1259.95,0,-1356.44:1457:713:707:20455:22312 0/1:-951.996,0,-956.392:1042:500:513:15025:15257 0/1:-832.782,0,-1024.27:1037:521:496:14070:16252 . 0/1:-813.969,0,-799.87:898:428:449:12802:13043 1/1:-3070.68,-333.457,0:1348:31:1283:37312:902 . 0/1:-925.633,0,-1382.36:1252:695:537:15473:21092 1/1:-3363.32,-368.422,0:1507:31:1434:41448:923 . 0/1:-1170.53,0,-1448.84:1447:751:666:19543:23479 0/1:-1159.33,0,-1208.33:1270:610:632:18383:19104 0/1:-1175.32,0,-1310.9:1371:673:643:18660:20802 . 0/1:-1194.38,0,-1374.71:1262:650:599:18524:20350:650,599 . . 0/1:-812.133,0,-876.028:813:411:390:12154:13229:411,390 0/1:-1097.96,0,-1116.31:1105:549:538:16552:17134:549,538 0/1:-1415.27,0,-1360.61:1358:655:680:21131:20784:655,680 1/1:-2717.56,-301.144,0:1091:10:1062:32210:277:10,1062 0/1:-1030.98,0,-1149.41:1091:557:517:15903:17395:557,517 0/1:-1173.76,0,-1114.14:1106:526:564:17552:16877:526,564 0/1:-1049.02,0,-1271.84:1140:605:524:16272:19079:605,524 1/1:-2855.26,-320.271,0:1132:5:1103:33581:150:5,1103 0/1:-913.867,0,-1046.39:959:496:456:14007:15714:496,456 0/1:-1014.94,0,-1127.07:1048:528:509:15540:16935:528,509 1/1:-2724.08,-296.517,0:1062:9:1035:32044:220:9,1035 1/1:-2965.54,-296.889,0:1207:23:1165:35596:702:23,1165 0/1:-1127.54,0,-1215.62:1170:579:572:17470:18248:579,572 0/1:-1378.3,0,-1355.56:1335:647:671:20707:20710:647,671 . . . chr6 152776744 . C G 3264.39 . AB=0.449649;ABP=12.4132;AC=1;AF=0.5;AN=2;AO=192;CIGAR=1X;DP=427;DPB=427;DPRA=0;EPP=38.4777;EPPR=4.64132;GTI=0;LEN=1;MEANALT=3;MQM=37.6354;MQMR=38.2133;NS=1;NUMALT=1;ODDS=751.654;PAIRED=0.958333;PAIREDR=0.955556;PAO=0;PQA=0;PQR=0;PRO=0;QA=5609;QR=6824;RO=225;RPL=134;RPP=68.3354;RPPR=144.31;RPR=58;RUN=1;SAF=92;SAP=3.73412;SAR=100;SF=0;SRF=101;SRP=8.11567;SRR=124;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.057;CADD_raw=-0.078;CADD_phred=1.898;DANN_score=0.536;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.052;MetaSVM_pred=T;MetaLR_score=0.050;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.04;phyloP7way_vertebrate=0.824;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.130;phastCons20way_mammalian=0.074;SiPhy_29way_logOdds=7.493;GDI_full_10282015=.;dpsi_max_tissue=-0.6999;dpsi_zscore=-1.269;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.065e-06;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-344.464,0,-445.502:427:225:192:5609:6824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152777095 . A C 7759.17 . AB=0.453083;ABP=24.4048;AC=15;AF=0.5;AN=28;AO=507;CIGAR=1X;DP=12574;DPB=1119;DPRA=0;EPP=57.6997;EPPR=47.5273;GTI=0;LEN=1;MEANALT=3;MQM=39.6765;MQMR=40.3661;NS=1;NUMALT=1;ODDS=2034.34;PAIRED=0.982249;PAIREDR=0.983361;PAO=0;PQA=0;PQR=0;PRO=0;QA=14269;QR=18280;RO=601;RPL=234;RPP=9.52472;RPPR=13.1595;RPR=273;RUN=1;SAF=267;SAP=6.13259;SAR=240;SF=0,1;SRF=307;SRP=3.62091;SRR=294;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon23:c.T2674G:p.L892V,SYNE1:NM_182961:exon23:c.T2653G:p.L885V;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0634;esp6500siv2_ea=0.0679;esp6500siv2_all=0.0634;esp6500siv2_ea=0.0679;1000g2015aug_all=0.0433307;avsnp147=rs17082709;Kaviar_AF=0.0554068;Kaviar_AC=8566;Kaviar_AN=154602;ExAC_ALL=0.0556;ExAC_AFR=0.0533;ExAC_AMR=0.0329;ExAC_EAS=0.0006;ExAC_FIN=0.0568;ExAC_NFE=0.0687;ExAC_OTH=0.0585;ExAC_SAS=0.0479;CLNALLELEID=135883;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.359;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.067;Polyphen2_HVAR_pred=B;LRT_score=0.118;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.23;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_pred=N;VEST3_score=0.14;CADD_raw=0.696;CADD_phred=8.803;DANN_score=0.945;fathmm-MKL_coding_score=0.808;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.086;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.157;phastCons7way_vertebrate=0.622;phastCons20way_mammalian=0.766;SiPhy_29way_logOdds=3.672;GDI_full_10282015=.;dpsi_max_tissue=1.7443;dpsi_zscore=1.881;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0547;gnomAD_exome_AFR=0.0538;gnomAD_exome_AMR=0.0349;gnomAD_exome_ASJ=0.1075;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0562;gnomAD_exome_NFE=0.0664;gnomAD_exome_OTH=0.0633;gnomAD_exome_SAS=0.0454;gnomAD_genome_ALL=0.0607;gnomAD_genome_AFR=0.0522;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0556;gnomAD_genome_NFE=0.0734;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-899.675,0,-1245.51:1119:601:507:14269:18280 . . . . 0/1:-655.01,0,-1061.29:940:528:399:10990:15827 . . . . 0/1:-735.021,0,-1053.87:962:526:426:11859:15797 . . . . 0/1:-685.052,0,-716.939:765:364:392:10814:11074 . . . . . . 0/1:-889.267,0,-1346.69:1190:660:525:14538:19823 . . . . . . . . . . . . . . . . . . 0/1:-820.243,0,-993.4:938:480:451:12668:14848 . . . . . 0/1:-730.21,0,-830.422:849:422:415:11314:12506 . . 0/1:-732.771,0,-1102.34:1015:555:441:11947:16548 . . 0/1:-610.567,0,-817.49:775:413:352:9760:12290 . 0/1:-819.979,0,-1055.61:1003:527:472:13095:15707 . . . . . . 1/1:-1684.6,-151.574,0:794:46:739:20677:1059 . . . 0/1:-744.918,0,-1099.93:982:531:442:12076:16237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-558.714,0,-645.567:584:307:274:8373:9486:307,274 . 0/1:-648.887,0,-726.735:658:334:320:9747:10656:334,320 . . . . . . chr6 152777118 . T C 8503.23 . AB=0.479355;ABP=6.68628;AC=1;AF=0.5;AN=2;AO=476;CIGAR=1X;DP=993;DPB=993;DPRA=0;EPP=52.352;EPPR=38.7597;GTI=0;LEN=1;MEANALT=3;MQM=40.042;MQMR=40.3121;NS=1;NUMALT=1;ODDS=1957.94;PAIRED=0.964286;PAIREDR=0.980119;PAO=0;PQA=0;PQR=0;PRO=0;QA=13415;QR=14768;RO=503;RPL=255;RPP=8.28388;RPPR=3.35998;RPR=221;RUN=1;SAF=227;SAP=5.21827;SAR=249;SF=0;SRF=254;SRP=3.11823;SRR=249;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon23:c.A2651G:p.Q884R,SYNE1:NM_182961:exon23:c.A2630G:p.Q877R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs369192821;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=269302;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.499;SIFT_pred=T;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.779;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.955;MutationAssessor_pred=M;FATHMM_score=1.35;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_pred=N;VEST3_score=0.47;CADD_raw=2.468;CADD_phred=19.26;DANN_score=0.998;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.897;MetaSVM_pred=T;MetaLR_score=0.162;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.25;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=15.155;GDI_full_10282015=.;dpsi_max_tissue=2.8315;dpsi_zscore=2.197;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-864.1,0,-985.012:993:503:476:13415:14768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152779933 . G A 7596.89 . AB=0.496749;ABP=3.08089;AC=12;AF=0.5;AN=24;AO=382;CIGAR=1X;DP=9331;DPB=769;DPRA=0;EPP=53.2384;EPPR=25.5701;GTI=0;LEN=1;MEANALT=3;MQM=39.4581;MQMR=40.6757;NS=1;NUMALT=1;ODDS=1689.15;PAIRED=0.986911;PAIREDR=0.983784;PAO=0;PQA=0;PQR=0;PRO=0;QA=11355;QR=11197;RO=370;RPL=158;RPP=27.7719;RPPR=16.5321;RPR=224;RUN=1;SAF=206;SAP=8.12633;SAR=176;SF=0,1;SRF=191;SRP=3.85541;SRR=179;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon22:c.C2548T:p.R850C,SYNE1:NM_182961:exon22:c.C2527T:p.R843C;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0312;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0312;1000g2015aug_all=0.0115815;avsnp147=rs34610829;Kaviar_AF=0.0252325;Kaviar_AC=3901;Kaviar_AN=154602;ExAC_ALL=0.0251;ExAC_AFR=0.0048;ExAC_AMR=0.0180;ExAC_EAS=0.0003;ExAC_FIN=0.0183;ExAC_NFE=0.0333;ExAC_OTH=0.0352;ExAC_SAS=0.0250;CLNALLELEID=135877;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.958;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.646;Polyphen2_HVAR_pred=P;LRT_score=0.673;LRT_pred=N;MutationTaster_score=0.962;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.26;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_pred=N;VEST3_score=0.217;CADD_raw=4.640;CADD_phred=24.5;DANN_score=0.999;fathmm-MKL_coding_score=0.713;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.980;MetaSVM_pred=T;MetaLR_score=0.103;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.34;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.901;phastCons20way_mammalian=0.928;SiPhy_29way_logOdds=19.408;GDI_full_10282015=.;dpsi_max_tissue=-0.5523;dpsi_zscore=-1.143;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0245;gnomAD_exome_AFR=0.0056;gnomAD_exome_AMR=0.0169;gnomAD_exome_ASJ=0.0254;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0189;gnomAD_exome_NFE=0.0339;gnomAD_exome_OTH=0.0312;gnomAD_exome_SAS=0.0241;gnomAD_genome_ALL=0.0209;gnomAD_genome_AFR=0.0076;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0183;gnomAD_genome_NFE=0.0313;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-749.415,0,-745.01:769:370:382:11355:11197 0/1:-972.476,0,-871.969:973:459:491:14749:13513 . . . . . . . . . . . . . . . . . . . . . . 0/1:-945.786,0,-880.912:944:448:473:14333:13610 . . . 0/1:-306.518,0,-382.028:354:187:159:4769:5574 . . . . . . . . . . . . . . . 0/1:-961.805,0,-1141.34:1103:575:501:15016:16958 . . . 0/1:-819.931,0,-957.471:914:474:417:12646:14180 . . . . . . . . . 0/1:-632.401,0,-532.39:619:283:327:9644:8434 . . . . 0/1:-1047.42,0,-1023.81:1067:530:522:15933:15612 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-491.231,0,-318.048:391:163:220:6927:5043:163,220 . . . . 0/1:-742.803,0,-845.88:774:399:365:11204:12418:399,365 0/1:-610.262,0,-869.989:722:399:307:9463:12499:399,307 . . . 0/1:-661.636,0,-780.876:701:364:327:10031:11367:364,327 . . . . . . chr6 152784571 . CAC CC 10830.00 . AB=0.453896;ABP=31.4425;AC=1;AF=0.5;AN=2;AO=699;CIGAR=1M1D1M;DP=1540;DPB=1309.67;DPRA=0;EPP=81.5468;EPPR=63.1234;GTI=0;LEN=1;MEANALT=20;MQM=39.4921;MQMR=40.7831;NS=1;NUMALT=1;ODDS=2493.71;PAIRED=0.958512;PAIREDR=0.966234;PAO=5;PQA=160;PQR=77;PRO=3;QA=17849;QR=23158;RO=770;RPL=463;RPP=163.087;RPPR=80.7208;RPR=236;RUN=1;SAF=333;SAP=6.39332;SAR=366;SF=0;SRF=350;SRP=16.8288;SRR=420;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SYNE1:NM_033071:exon19:c.2034delT:p.C678fs,SYNE1:NM_182961:exon19:c.2013delT:p.C671fs;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1116.52,0,-1582.43:1540:770:699:17849:23158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152784621 . T C 6109.28 . AB=0.444862;ABP=24.0828;AC=1;AF=0.5;AN=2;AO=355;CIGAR=1X;DP=798;DPB=798;DPRA=0;EPP=5.21847;EPPR=4.69345;GTI=0;LEN=1;MEANALT=3;MQM=40.3577;MQMR=40.3421;NS=1;NUMALT=1;ODDS=1406.71;PAIRED=0.969014;PAIREDR=0.980861;PAO=0;PQA=0;PQR=0;PRO=0;QA=9945;QR=12949;RO=418;RPL=220;RPP=47.2044;RPPR=65.8687;RPR=135;RUN=1;SAF=114;SAP=101.669;SAR=241;SF=0;SRF=134;SRP=119.896;SRR=284;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon19:c.A1985G:p.Q662R,SYNE1:NM_182961:exon19:c.A1964G:p.Q655R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0080;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0080;1000g2015aug_all=0.00399361;avsnp147=rs9397509;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;ExAC_ALL=0.0063;ExAC_AFR=0.0015;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0.0139;ExAC_NFE=0.0085;ExAC_OTH=0.0067;ExAC_SAS=6.185e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.428;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.95;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=1.36;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_pred=N;VEST3_score=0.691;CADD_raw=4.526;CADD_phred=24.3;DANN_score=0.998;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.101;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.56;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.011;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.007;GDI_full_10282015=.;dpsi_max_tissue=0.2173;dpsi_zscore=0.756;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0063;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0173;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0132;gnomAD_exome_NFE=0.0078;gnomAD_exome_OTH=0.0090;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=0.0068;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0123;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-634.434,0,-881.746:798:418:355:9945:12949 . . . . . . . . . . . . . . . . . . . . . . . chr6 152786447 . T C 5415.65 . AB=0.492586;ABP=3.30007;AC=1;AF=0.5;AN=2;AO=299;CIGAR=1X;DP=607;DPB=607;DPRA=0;EPP=8.30463;EPPR=20.6839;GTI=0;LEN=1;MEANALT=3;MQM=39.3913;MQMR=40.0508;NS=1;NUMALT=1;ODDS=1247;PAIRED=0.973244;PAIREDR=0.962712;PAO=0;PQA=0;PQR=0;PRO=0;QA=8696;QR=9028;RO=295;RPL=211;RPP=112.884;RPPR=51.3053;RPR=88;RUN=1;SAF=111;SAP=46.0694;SAR=188;SF=0;SRF=113;SRP=38.0557;SRR=182;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon18:c.A1899G:p.Q633Q,SYNE1:NM_182961:exon18:c.A1878G:p.Q626Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0080;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0080;1000g2015aug_all=0.00139776;avsnp147=rs62427038;Kaviar_AF=0.0057373;Kaviar_AC=887;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0014;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0084;ExAC_OTH=0.0033;ExAC_SAS=0.0027;CLNALLELEID=192062;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0704;dpsi_zscore=-0.350;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0052;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0091;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0045;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0043;gnomAD_genome_NFE=0.0069;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-565.213,0,-597.052:607:295:299:8696:9028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152787211 . A G 8824.24 . AB=0.448643;ABP=26.6524;AC=1;AF=0.5;AN=2;AO=463;CIGAR=1X;DP=1032;DPB=1032;DPRA=0;EPP=3.05251;EPPR=15.7682;GTI=0;LEN=1;MEANALT=3;MQM=40.2397;MQMR=40.1121;NS=1;NUMALT=1;ODDS=2031.86;PAIRED=0.989201;PAIREDR=0.965642;PAO=0;PQA=0;PQR=0;PRO=0;QA=14025;QR=17616;RO=553;RPL=280;RPP=47.1386;RPPR=21.7054;RPR=183;RUN=1;SAF=165;SAP=85.9718;SAR=298;SF=0;SRF=233;SRP=32.7316;SRR=320;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon17:c.T1656C:p.S552S,SYNE1:NM_182961:exon17:c.T1635C:p.S545S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs753285102;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.423e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.535e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2175;dpsi_zscore=0.756;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.082e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.009e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-904.887,0,-1203.84:1032:553:463:14025:17616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152793412 . C A 9489.57 . AB=0;ABP=0;AC=171;AF=1;AN=208;AO=669;CIGAR=1X;DP=56599;DPB=684;DPRA=0;EPP=329.182;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=38.0628;MQMR=6.33333;NS=1;NUMALT=1;ODDS=917.201;PAIRED=0.986547;PAIREDR=0.333333;PAO=0;PQA=0;PQR=0;PRO=0;QA=18398;QR=55;RO=3;RPL=390;RPP=43.0024;RPPR=3.73412;RPR=279;RUN=1;SAF=362;SAP=12.829;SAR=307;SF=0,1;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.7830;esp6500siv2_ea=0.7044;esp6500siv2_all=0.7830;esp6500siv2_ea=0.7044;1000g2015aug_all=0.855232;avsnp147=rs4523096;Kaviar_AF=0.743684;Kaviar_AC=114975;Kaviar_AN=154602;ExAC_ALL=0.7657;ExAC_AFR=0.9448;ExAC_AMR=0.6877;ExAC_EAS=0.9668;ExAC_FIN=0.8049;ExAC_NFE=0.7166;ExAC_OTH=0.7810;ExAC_SAS=0.7836;CLNALLELEID=252207;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1143;dpsi_zscore=0.525;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7584;gnomAD_exome_AFR=0.9483;gnomAD_exome_AMR=0.6969;gnomAD_exome_ASJ=0.7363;gnomAD_exome_EAS=0.9669;gnomAD_exome_FIN=0.7910;gnomAD_exome_NFE=0.7070;gnomAD_exome_OTH=0.7510;gnomAD_exome_SAS=0.7847;gnomAD_genome_ALL=0.7965;gnomAD_genome_AFR=0.9394;gnomAD_genome_AMR=0.7081;gnomAD_genome_ASJ=0.7318;gnomAD_genome_EAS=0.9691;gnomAD_genome_FIN=0.7789;gnomAD_genome_NFE=0.7065;gnomAD_genome_OTH=0.7705;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1557.17,-200.689,0:684:3:669:18398:55 0/1:-642.848,0,-634.479:742:353:377:10233:10040 1/1:-1567.04,-199.286,0:694:4:681:19205:78 1/1:-986.308,-121.307,0:428:3:414:11722:49 1/1:-1197.93,-131.09,0:569:20:544:15031:494 0/1:-512.18,0,-507.273:602:278:322:8500:8060 1/1:-1326.89,-164.436,0:596:7:581:16169:174 1/1:-1135.93,-137.107,0:479:5:471:13477:70 1/1:-1092.12,-137.821,0:494:5:482:13189:118 1/1:-1303.42,-168.654,0:588:4:575:16038:63 0/1:-561.277,0,-468.766:589:266:316:8810:7633 1/1:-1428.09,-176.692,0:620:7:605:17342:105 1/1:-1085.52,-131.847,0:475:7:462:12744:116 0/1:-388.717,0,-349.599:445:197:240:6472:5632 1/1:-1236.44,-159.22,0:545:1:536:14778:27 1/1:-1516.66,-190.814,0:691:11:674:18722:202 1/1:-1002.45,-125.091,0:471:9:456:12501:179 0/1:-793.569,0,-700.948:858:395:445:12530:11190 1/1:-1507.95,-190.713,0:662:5:651:17888:128 1/1:-931.839,-116.367,0:432:9:421:11698:159 0/1:-382.834,0,-379.073:472:222:243:6541:6166 0/1:-605.85,0,-647.102:721:350:361:9664:10070 1/1:-975.448,-117.126,0:473:13:453:12876:269 0/1:-561.632,0,-553.794:637:303:327:8924:8605 . 0/1:-372.072,0,-392.829:476:225:244:6546:6346 1/1:-1225.82,-141.617,0:548:9:533:14678:243 1/1:-1536.24,-188.48,0:686:11:667:18586:251 1/1:-807.948,-102.255,0:368:8:356:9800:156 1/1:-920.504,-115.049,0:405:3:395:10833:60 0/1:-523.282,0,-471.938:571:261:303:8106:7501 0/1:-710.512,0,-625.632:772:358:406:11225:10232 1/1:-1448.08,-182.411,0:638:4:624:17523:74 0/1:-177.506,0,-169.604:217:102:115:2887:2808 1/1:-1615.8,-196.836,0:712:10:696:19572:182 . 1/1:-466.549,-50.8072,0:211:5:201:5643:127 1/1:-1857.79,-234.626,0:801:4:790:22081:56 1/1:-1165.87,-131.052,0:536:18:513:14312:354 1/1:-663.678,-82.1185,0:296:4:288:7881:74 0/1:-623.578,0,-701.49:749:387:359:10085:10891 0/1:-368.394,0,-471.998:482:253:223:6016:7199 0/1:-589.59,0,-458.057:608:267:336:9185:7530 0/1:-546.243,0,-495.958:614:275:330:8955:8090 1/1:-1669.43,-207.052,0:723:5:711:20025:95 0/1:-593.726,0,-550.966:644:301:337:9191:8844 0/1:-459.539,0,-463.843:549:256:286:7529:7400 1/1:-770.251,-89.3896,0:312:3:308:8954:49 1/1:-1149.46,-133.682,0:519:10:503:14077:244 0/1:-531.656,0,-647.021:690:348:337:9016:10016 0/1:-458.267,0,-487.32:571:287:277:7902:7750 1/1:-1128.43,-135.437,0:499:10:485:13428:175 1/1:-1562.62,-196.134,0:688:4:672:18841:89 1/1:-1191.99,-149.265,0:533:5:517:14551:88 0/1:-432.192,0,-371.013:470:214:250:6917:6078 1/1:-1045.2,-121.97,0:450:6:441:12641:141 1/1:-1272.76,-152.707,0:583:14:562:15496:253 0/1:-269.334,0,-287.947:327:159:164:4412:4569 . 0/1:-496.842,0,-447.742:530:245:284:7606:6988 . 1/1:-1503.23,-180.503,0:672:12:652:18196:239 1/1:-1093.88,-131.972,0:462:4:454:13103:78 1/1:-1075.29,-136.09,0:487:7:472:12973:98 . . 1/1:-671.687,-86.6555,0:311:4:303:8369:69 0/1:-545.794,0,-647.993:663:345:313:8762:9996 1/1:-837.017,-95.1557,0:397:11:381:10439:256 1/1:-1407.41,-164.64,0:637:12:612:16838:281 1/1:-1046.56,-125.775,0:473:11:453:12541:174 1/1:-1454.57,-175.675,0:625:8:613:17287:134 0/1:-694.362,0,-545.665:717:309:406:11487:8881 0/1:-309.796,0,-322.298:404:190:207:5220:5306 . 1/1:-1254.89,-156.464,0:561:8:545:15151:170 0/1:-439.075,0,-530.07:552:294:255:7072:8129 1/1:-1404.53,-180.096,0:631:6:617:17405:84 1/1:-998.798,-121.639,0:431:3:422:11889:71 1/1:-901.562,-115.772,0:437:8:415:10980:141 0/1:-413.646,0,-520.654:516:271:241:6551:7957 0/1:-642.184,0,-507.985:670:299:368:10181:8431 1/1:-1388.52,-169.85,0:614:9:599:16594:166 1/1:-1197.75,-150.601,0:526:5:514:14700:70 1/1:-1007.05,-121.661,0:454:8:443:12381:157 1/1:-1036.32,-131.464,0:460:5:449:12493:70 1/1:-1260.17,-153.136,0:582:13:563:15268:280 1/1:-1508.92,-190.699,0:681:8:664:18722:150 1/1:-853.807,-108.312,0:368:1:363:9988:14 1/1:-1526.12,-188.487,0:678:8:663:18486:154 1/1:-1740.32,-221.913,0:777:9:765:21299:166 1/1:-1048.78,-134.129,0:473:7:461:12471:98 1/1:-1389.28,-183.196,0:624:2:613:17004:41 0/1:-464.7,0,-530.852:569:285:280:7853:8166 1/1:-1440.78,-183.363,0:636:6:625:17302:91 . 0/1:-426.81,0,-359.525:399:183:216:6571:5534:183,216 . . 1/1:-760.253,-78.9131,0:303:6:296:9162:142:6,296 0/1:-442.286,0,-487.122:475:237:234:6980:7337:237,234 1/1:-1587.39,-179.956,0:624:4:615:18805:85:4,615 1/1:-1222.61,-138.184,0:491:6:484:14907:106:6,484 0/1:-545.196,0,-448.141:508:232:270:8261:7045:232,270 1/1:-1325.4,-145.41,0:508:3:499:15576:64:3,499 0/1:-404.802,0,-445.656:432:213:213:6297:6620:213,213 1/1:-1546.52,-172.199,0:597:3:591:18366:86:3,591 1/1:-991.524,-100.863,0:399:8:386:11754:200:8,386 1/1:-1172.24,-132.89,0:473:4:467:14164:100:4,467 1/1:-1311.85,-127.049,0:517:12:501:15593:346:12,501 1/1:-1031.49,-105.437,0:434:13:418:12824:287:13,418 0/1:-439.691,0,-761.157:605:359:243:7353:10970:359,243 1/1:-1417.92,-150.653,0:559:7:548:17030:185:7,548 . . 0/0:0,-71.7106,-994.182:442:410:27:739:12272:410,27 chr6 152793571 . ATAAA AAAAG,ATAAG 4798.51 . AB=0.282847;ABP=227.464;AC=12,1;AF=0.5;AN=18;AO=155;CIGAR=1M1X2M1X;DP=5040;DPB=544.4;DPRA=0;EPP=14.7923;EPPR=41.9654;GTI=0;LEN=5;MEANALT=25;MQM=36.0516;MQMR=40.3772;NS=1;NUMALT=1;ODDS=455.308;PAIRED=0.980645;PAIREDR=0.975089;PAO=7;PQA=143.333;PQR=209.333;PRO=9;QA=4601;QR=8495;RO=281;RPL=102;RPP=36.6471;RPPR=72.7524;RPR=53;RUN=1;SAF=57;SAP=26.5603;SAR=98;SF=1;SRF=115;SRP=23.1099;SRR=166;TYPE=complex;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-219.684,0,-598.798,.,.,.:548:281:155,.:4601,.:8495:281,155 . . . 0/1:-174.326,0,-660.281,.,.,.:553:301:142,.:4190,.:9325:301,142 . 1/1:-774.035,-114.717,0,.,.,.:515:9:329,.:9751,.:279:9,329 . . 0/1:-217.745,0,-624.174,.,.,.:524:275:153,.:4494,.:8610:275,153 1/1:-875.514,-141.785,0,.,.,.:575:5:371,.:10968,.:155:5,371 . . 1/2:-901.15,-616.54,-562.364,-297.123,0,-207.126:530:3:155,274:4561,8341:101:3,155,274 1/1:-830.541,-118.64,0,.,.,.:539:8:352,.:10503,.:242:8,352 0/1:-251.084,0,-693.874,.,.,.:602:324:166,.:5010,.:9981:324,166 0/1:-286.828,0,-721.394,.,.,.:654:331:201,.:5939,.:10312:331,201 . . . chr6 152793572 . TAAA AAAG,TAAG,AAAA 3264.41 . AB=0.369818;ABP=91.7742;AC=69,6,1;AF=0.5;AN=122;AO=223;CIGAR=1X2M1X;DP=37282;DPB=608.25;DPRA=0;EPP=6.52555;EPPR=7.87095;GTI=0;LEN=4;MEANALT=22;MQM=31.3004;MQMR=39.3411;NS=1;NUMALT=1;ODDS=582.033;PAIRED=0.946188;PAIREDR=0.953642;PAO=13;PQA=244;PQR=83;PRO=8;QA=5551;QR=9051;RO=302;RPL=138;RPP=30.3631;RPPR=63.869;RPR=85;RUN=1;SAF=70;SAP=70.0922;SAR=153;SF=0,1;SRF=117;SRP=36.2583;SRR=185;TYPE=complex;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0192;esp6500siv2_ea=0.0162;esp6500siv2_all=0.0192;esp6500siv2_ea=0.0162;1000g2015aug_all=0.483427;avsnp147=rs4331993;Kaviar_AF=0.0222377;Kaviar_AC=3438;Kaviar_AN=154602;ExAC_ALL=0.3721;ExAC_AFR=0.4089;ExAC_AMR=0.2579;ExAC_EAS=0.7002;ExAC_FIN=0.3444;ExAC_NFE=0.3388;ExAC_OTH=0.3961;ExAC_SAS=0.4108;CLNALLELEID=252208;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1767;dpsi_zscore=0.676;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3384;gnomAD_exome_AFR=0.3865;gnomAD_exome_AMR=0.2426;gnomAD_exome_ASJ=0.3213;gnomAD_exome_EAS=0.6139;gnomAD_exome_FIN=0.3093;gnomAD_exome_NFE=0.3152;gnomAD_exome_OTH=0.3247;gnomAD_exome_SAS=0.3916;gnomAD_genome_ALL=0.3850;gnomAD_genome_AFR=0.4385;gnomAD_genome_AMR=0.2742;gnomAD_genome_ASJ=0.3966;gnomAD_genome_EAS=0.7668;gnomAD_genome_FIN=0.3122;gnomAD_genome_NFE=0.3368;gnomAD_genome_OTH=0.3614;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-272.576,0,-616.995,.,.,.,.,.,.,.:603:302:223,.,.:5551,.,.:9051 . 1/1:-670.703,-87.458,0,.,.,.,.,.,.,.:504:14:359,.,.:8847,.,.:409 0/1:-214.911,0,-817.082,.,.,.,.,.,.,.:723:395:223,.,.:5338,.,.:11780 1/2:-866.006,-638.928,-603.195,-218.428,0,-135.52,.,.,.,.:585:11:142,316,.:3623,8870,.:347 0/1:-245.98,0,-654.079,.,.,.,.,.,.,.:612:309:199,.,.:4899,.,.:9253 0/1:-151.247,0,-630.262,.,.,.,.,.,.,.:514:295:148,.,.:3654,.,.:8793 1/1:-756.429,-115.463,0,.,.,.,.,.,.,.:604:7:415,.,.:9913,.,.:211 . 1/2:-1001.74,-696.364,-640.426,-301.038,0,-206.977,.,.,.,.:637:6:195,333,.:4587,9657,.:165 . 0/3:.,.,.,.,.,.,.,.,.,-496.924:481:275:.,.,200:.,.,4238:7751 . 0/1:-335.049,0,-1016.76,.,.,.,.,.,.,.:910:483:293,.,.:7181,.,.:14433 1/2:-665.383,-429.898,-387.654,-230.359,0,-171.836,.,.,.,.:486:11:158,223,.:3853,6141,.:245 0/1:-392.816,0,-1238.58,.,.,.,.,.,.,.:1109:587:362,.,.:8741,.,.:17422 0/1:-245.335,0,-689.611,.,.,.,.,.,.,.:642:341:205,.,.:4994,.,.:10013 0/1:-150.731,0,-425.63,.,.,.,.,.,.,.:454:219:142,.,.:3456,.,.:6540 0/1:-109.007,0,-669.772,.,.,.,.,.,.,.:502:312:118,.,.:2980,.,.:9284 . 1/1:-443.505,-70.3553,0,.,.,.,.,.,.,.:350:3:245,.,.:5931,.,.:84 . . 0/1:-127.966,0,-590.103,.,.,.,.,.,.,.:547:288:145,.,.:3570,.,.:8415 . 0/1:-290.555,0,-783.675,.,.,.,.,.,.,.:724:372:240,.,.:6003,.,.:11199 . . . 0/1:-326.662,0,-901.777,.,.,.,.,.,.,.:848:434:287,.,.:6942,.,.:13111 0/1:-248.704,0,-875.839,.,.,.,.,.,.,.:744:406:229,.,.:5705,.,.:12240 . 0/1:-251.052,0,-834.862,.,.,.,.,.,.,.:708:386:211,.,.:5564,.,.:11762 . 1/2:-293.174,-183.697,-173.994,-99.0677,0,-83.5753,.,.,.,.:209:9:67,96,.:1601,2730,.:284 . 0/1:-182.777,0,-764.301,.,.,.,.,.,.,.:646:354:177,.,.:4161,.,.:10639 . 0/1:-347.637,0,-905.999,.,.,.,.,.,.,.:827:419:277,.,.:6840,.,.:12639 . . 0/1:-213.146,0,-758.355,.,.,.,.,.,.,.:655:357:213,.,.:5114,.,.:10674 0/1:-261.097,0,-1014.66,.,.,.,.,.,.,.:831:464:241,.,.:5992,.,.:14101 . 0/1:-184.083,0,-752.054,.,.,.,.,.,.,.:644:360:191,.,.:4457,.,.:10631 . 1/2:-941.101,-663.964,-615.854,-266.693,0,-180.604,.,.,.,.:626:10:195,331,.:4548,9328,.:283 0/1:-218.981,0,-886.04,.,.,.,.,.,.,.:749:415:213,.,.:5226,.,.:12589 0/1:-256.566,0,-664.959,.,.,.,.,.,.,.:628:318:220,.,.:5293,.,.:9346 . 0/1:-397.246,0,-796.085,.,.,.,.,.,.,.:802:392:311,.,.:7632,.,.:11868 1/1:-766.355,-104.658,0,.,.,.,.,.,.,.:559:9:400,.,.:9786,.,.:251 . 0/1:-254.209,0,-502.179,.,.,.,.,.,.,.:507:241:194,.,.:4790,.,.:7371 1/2:-1023.91,-674.14,-610.267,-346.028,0,-257.611,.,.,.,.:651:9:220,317,.:5259,9352,.:245 . . . . 0/1:-252.611,0,-841.605,.,.,.,.,.,.,.:750:399:221,.,.:5457,.,.:12088 0/1:-253.624,0,-569.091,.,.,.,.,.,.,.:551:278:197,.,.:4946,.,.:8281 . . . 1/1:-389.212,-61.0203,0,.,.,.,.,.,.,.:302:5:214,.,.:5018,.,.:129 . 1/1:-572.313,-77.8852,0,.,.,.,.,.,.,.:423:9:303,.,.:7278,.,.:237 . 0/1:-159.696,0,-686.361,.,.,.,.,.,.,.:572:314:173,.,.:3869,.,.:9420 0/1:-273.902,0,-851.499,.,.,.,.,.,.,.:735:398:238,.,.:5995,.,.:11991 0/1:-318.063,0,-768.199,.,.,.,.,.,.,.:722:369:254,.,.:6360,.,.:10949 . . 0/1:-221.358,0,-753.624,.,.,.,.,.,.,.:657:353:206,.,.:4963,.,.:10634 . 1/1:-773.935,-96.2607,0,.,.,.,.,.,.,.:611:17:420,.,.:10428,.,.:513 0/1:-129.895,0,-507.25,.,.,.,.,.,.,.:431:243:128,.,.:3123,.,.:7353 0/1:-152.493,0,-536.563,.,.,.,.,.,.,.:470:260:133,.,.:3265,.,.:7730 . 0/1:-271.775,0,-815.303,.,.,.,.,.,.,.:719:383:245,.,.:5792,.,.:11501 0/1:-226.226,0,-748.157,.,.,.,.,.,.,.:680:366:206,.,.:4999,.,.:10664 0/1:-189.005,0,-673.457,.,.,.,.,.,.,.:593:325:181,.,.:4512,.,.:9624 0/1:-181.726,0,-608.725,.,.,.,.,.,.,.:545:293:169,.,.:3975,.,.:8714 . 0/1:-155.829,0,-595.096,.,.,.,.,.,.,.:496:271:144,.,.:3494,.,.:8140 1/1:-810.015,-103.905,0,.,.,.,.,.,.,.:601:15:433,.,.:10587,.,.:443 . 0/1:-193.648,0,-827.238,.,.,.,.,.,.,.:688:403:194,.,.:4746,.,.:11815 1/1:-960.482,-113.105,0,.,.,.,.,.,.,.:751:25:540,.,.:13238,.,.:711 . 0/1:-318.445,0,-617.34,.,.,.,.,.,.,.:635:299:241,.,.:6036,.,.:9041 0/1:-202.69,0,-728.56,.,.,.,.,.,.,.:599:342:188,.,.:4614,.,.:10185 0/1:-208.491,0,-790.724,.,.,.,.,.,.,.:674:372:202,.,.:4967,.,.:11099 . . . . 0/1:-153.97,0,-445.393,.,.,.,.,.,.,.:323:196:103,.,.:3034,.,.:6042:196,103 . 0/1:-331.884,0,-743.225,.,.,.,.,.,.,.:614:342:206,.,.:6086,.,.:10536:342,206 . 0/1:-330.082,0,-614.285,.,.,.,.,.,.,.:514:274:186,.,.:5588,.,.:8457:274,186 0/1:-297.01,0,-588.854,.,.,.,.,.,.,.:529:264:189,.,.:5558,.,.:8301:264,189 . . . 0/1:-240.627,0,-619.022,.,.,.,.,.,.,.:476:273:153,.,.:4514,.,.:8440:273,153 . . . . . . . chr6 152793573 . AAA AAG 1045.41 . AB=0.290389;ABP=189.628;AC=1;AF=0.5;AN=2;AO=142;CIGAR=2M1X;DP=489;DPB=490.667;DPRA=0;EPP=16.7732;EPPR=58.4481;GTI=0;LEN=1;MEANALT=17;MQM=30.9296;MQMR=36.7102;NS=1;NUMALT=1;ODDS=240.716;PAIRED=0.943662;PAIREDR=0.922261;PAO=0;PQA=0;PQR=39;PRO=2;QA=3270;QR=8149;RO=283;RPL=82;RPP=10.4117;RPPR=46.1712;RPR=60;RUN=1;SAF=64;SAP=6.00754;SAR=78;SF=0;SRF=146;SRP=3.63182;SRR=137;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-124.219,0,-546.311:489:283:142:3270:8149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152793575 . A G 6010.21 . AB=0.477764;ABP=6.39029;AC=10;AF=0.5;AN=18;AO=376;CIGAR=1X;DP=6342;DPB=787;DPRA=0;EPP=26.6655;EPPR=46.3767;GTI=0;LEN=1;MEANALT=3;MQM=38.383;MQMR=38.7414;NS=1;NUMALT=1;ODDS=1561.38;PAIRED=0.973404;PAIREDR=0.970976;PAO=0;PQA=0;PQR=0;PRO=0;QA=10983;QR=11601;RO=379;RPL=263;RPP=132.952;RPPR=81.4411;RPR=113;RUN=1;SAF=159;SAP=22.438;SAR=217;SF=0,1;SRF=160;SRP=22.9546;SRR=219;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.2576;esp6500siv2_ea=0.1459;esp6500siv2_all=0.2576;esp6500siv2_ea=0.1459;1000g2015aug_all=0.602236;avsnp147=rs4343926;Kaviar_AF=0.452219;Kaviar_AC=69914;Kaviar_AN=154602;ExAC_ALL=0.4729;ExAC_AFR=0.7276;ExAC_AMR=0.3145;ExAC_EAS=0.7447;ExAC_FIN=0.4056;ExAC_NFE=0.4256;ExAC_OTH=0.4932;ExAC_SAS=0.5008;CLNALLELEID=252209;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1966;dpsi_zscore=-0.681;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4394;gnomAD_exome_AFR=0.7245;gnomAD_exome_AMR=0.2998;gnomAD_exome_ASJ=0.4611;gnomAD_exome_EAS=0.7196;gnomAD_exome_FIN=0.3783;gnomAD_exome_NFE=0.4045;gnomAD_exome_OTH=0.4173;gnomAD_exome_SAS=0.4833;gnomAD_genome_ALL=0.5171;gnomAD_genome_AFR=0.7268;gnomAD_genome_AMR=0.3431;gnomAD_genome_ASJ=0.5171;gnomAD_genome_EAS=0.7680;gnomAD_genome_FIN=0.3818;gnomAD_genome_NFE=0.4136;gnomAD_genome_OTH=0.4383;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-702.738,0,-744.283:787:379:376:10983:11601 0/1:-661.497,0,-955.381:915:478:397:11059:14395 . . . . . . . . . . . . . . . . . . . . . 0/1:-637.764,0,-791.205:814:413:373:10463:12237 . . . . . . . . . . . . . . . . . . 0/1:-601.339,0,-683.701:707:346:331:9528:10417 . . . . . . . . 0/1:-450.267,0,-835.716:753:426:300:8006:12763 . . 0/1:-455.377,0,-468.538:537:252:257:7322:7463 . . . . . . . . 1/1:-1175.71,-135.731,0:580:15:522:14640:318 . . . 0/1:-568.005,0,-800.18:760:386:344:9452:11938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-457.817,0,-486.882:489:246:236:7059:7517:246,236 . . . . . . . . chr6 152809527 . A T 5312.65 . AB=0.442991;ABP=18.1132;AC=99;AF=0.5;AN=156;AO=237;CIGAR=1X;DP=32130;DPB=535;DPRA=0;EPP=14.2342;EPPR=5.43636;GTI=0;LEN=1;MEANALT=3;MQM=39.481;MQMR=40.7276;NS=1;NUMALT=1;ODDS=1043.77;PAIRED=0.966245;PAIREDR=0.97931;PAO=0;PQA=0;PQR=0;PRO=0;QA=7315;QR=9211;RO=290;RPL=136;RPP=14.2342;RPPR=7.32329;RPR=101;RUN=1;SAF=112;SAP=4.55873;SAR=125;SF=0,1;SRF=147;SRP=3.13011;SRR=143;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5072;esp6500siv2_ea=0.4328;esp6500siv2_all=0.5072;esp6500siv2_ea=0.4328;1000g2015aug_all=0.589257;avsnp147=rs9397106;Kaviar_AF=0.465628;Kaviar_AC=71987;Kaviar_AN=154602;ExAC_ALL=0.4810;ExAC_AFR=0.6736;ExAC_AMR=0.3159;ExAC_EAS=0.7564;ExAC_FIN=0.4216;ExAC_NFE=0.4370;ExAC_OTH=0.5112;ExAC_SAS=0.5286;CLNALLELEID=135839;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=10.0525;dpsi_zscore=3.110;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4644;gnomAD_exome_AFR=0.6751;gnomAD_exome_AMR=0.3199;gnomAD_exome_ASJ=0.4826;gnomAD_exome_EAS=0.7617;gnomAD_exome_FIN=0.4122;gnomAD_exome_NFE=0.4257;gnomAD_exome_OTH=0.4491;gnomAD_exome_SAS=0.5233;gnomAD_genome_ALL=0.5097;gnomAD_genome_AFR=0.6693;gnomAD_genome_AMR=0.3537;gnomAD_genome_ASJ=0.5232;gnomAD_genome_EAS=0.7736;gnomAD_genome_FIN=0.4046;gnomAD_genome_NFE=0.4250;gnomAD_genome_OTH=0.4551;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-463.478,0,-637.404:535:290:237:7315:9211 0/1:-492.835,0,-754.355:608:350:255:7852:10897 0/1:-379.199,0,-572.478:467:261:205:6137:8135 . 1/1:-1165.72,-95.9928,0:476:20:456:14041:559 0/1:-534.864,0,-575.78:539:268:271:8122:8629 1/1:-1147.95,-123.556,0:458:6:451:13550:171 0/1:-421.937,0,-513.487:440:230:209:6471:7427 0/1:-398.415,0,-446.567:406:205:201:5946:6583 1/1:-1286.02,-131.555,0:523:10:513:15241:290 . 1/1:-1094.75,-112.013,0:434:6:428:13032:208 . 0/1:-341.133,0,-513.505:397:225:169:5276:7243 . 0/1:-526.286,0,-588.134:540:270:268:8055:8625 1/1:-869.789,-86.4972,0:373:10:362:10606:300 0/1:-781.345,0,-848.602:770:396:374:11638:12521 0/1:-391.365,0,-500.965:449:240:207:6149:7352 0/1:-360.035,0,-332.589:329:159:169:5300:5057 0/1:-318.299,0,-370.05:344:175:167:4945:5511 . 1/1:-907.904,-100.637,0:358:5:353:10664:83 0/1:-473.904,0,-642.604:541:295:244:7391:9296 . 0/1:-293.723,0,-580.161:428:260:166:4872:8146 . 0/1:-457.312,0,-538.892:476:249:226:6915:7902 . . . 0/1:-609.811,0,-710.835:635:331:304:9333:10422 . . 0/1:-423.608,0,-566.043:491:263:227:6637:8236 . 1/1:-404.867,-33.706,0:186:8:178:5033:253 . 0/1:-407.951,0,-600.427:473:263:208:6449:8632 . 0/1:-484.751,0,-615.84:543:284:256:7559:9019 . . 0/1:-454.574,0,-592.216:497:267:230:7029:8544 0/1:-562.122,0,-753.332:630:343:284:8702:10974 . 0/1:-420.918,0,-587.738:487:267:219:6655:8559 . 1/1:-1000.58,-100.66,0:402:8:394:12095:240 0/1:-429.305,0,-618.651:500:273:223:6756:8856 0/1:-426.758,0,-566.701:477:256:220:6617:8155 0/1:-566.561,0,-620.473:569:289:278:8498:9198 0/1:-496.023,0,-868.021:654:383:269:7979:12227 1/1:-869.647,-63.204,0:383:18:364:10658:588 0/1:-490.92,0,-494.186:484:240:239:7355:7449 0/1:-352.445,0,-441.748:379:199:176:5403:6414 1/1:-1136.06,-114.224,0:463:11:452:13584:282 . . . . 0/1:-521.862,0,-756.063:598:338:260:8107:10813 0/1:-346.338,0,-444.061:370:199:170:5259:6368 1/1:-858.24,-92.3908,0:347:5:341:10081:132 . . 1/1:-1010.15,-113.494,0:394:3:391:11764:55 0/1:-442.527,0,-467.036:440:221:218:6621:6899 1/1:-737.966,-75.1004,0:299:7:292:8738:200 . 0/1:-387.688,0,-548.901:448:246:202:6072:7803 0/1:-461.029,0,-655.543:545:298:244:7171:9506 0/1:-612.534,0,-708.491:627:327:298:9289:10422 . . 0/1:-448.655,0,-641.751:534:293:238:7057:9302 . 1/1:-1338.76,-130.79,0:544:13:531:15913:372 0/1:-333.155,0,-371.212:339:171:167:5077:5527 0/1:-305.124,0,-373.944:338:177:156:4687:5515 0/1:-470.476,0,-641.755:524:287:237:7237:9123 0/1:-471.161,0,-595.687:521:277:244:7266:8662 0/1:-428.51,0,-571.808:477:257:220:6668:8305 0/1:-443.97,0,-511.057:466:238:224:6824:7497 0/1:-382.115,0,-516.546:450:240:206:5999:7665 . 1/1:-1006.18,-95.7433,0:402:11:389:11974:277 1/1:-1243.07,-123.536,0:509:12:495:14800:328 . 0/1:-425.095,0,-664.608:533:298:234:6854:9609 1/1:-1633.53,-149.81,0:659:20:638:19396:551 . 0/1:-528.276,0,-641.05:562:293:267:7986:9338 0/1:-496.209,0,-386.203:433:194:237:7247:6017 0/1:-435.349,0,-608.102:505:276:227:6912:8790 . 0/1:-147.713,0,-168.099:147:74:73:2255:2438:74,73 . . 0/1:-96.3953,0,-73.8661:74:32:42:1383:1092:32,42 0/1:-136.646,0,-208.245:158:88:69:2132:2917:88,69 0/1:-169.693,0,-198.228:174:89:83:2559:2867:89,83 1/1:-358.502,-24.2295,0:144:7:137:4332:213:7,137 0/1:-153.169,0,-176.941:154:80:74:2281:2562:80,74 0/1:-151.47,0,-185.942:158:85:73:2274:2714:85,73 0/1:-120.228,0,-125.402:113:57:55:1824:1872:57,55 1/1:-471.95,-48.7602,0:183:2:181:5514:68:2,181 0/1:-105.146,0,-159.508:128:74:53:1676:2316:74,53 0/1:-119.767,0,-138.861:117:62:55:1773:1991:62,55 1/1:-414.658,-43.2,0:154:1:153:4842:32:1,153 1/1:-276.06,-18.8226,0:115:5:110:3390:176:5,110 0/1:-130.127,0,-204.596:155:90:65:2022:2908:90,65 0/1:-115.266,0,-213.946:148:90:58:1852:2962:90,58 . . . chr6 152832652 . GTT GT 1212.14 . AB=0.404372;ABP=17.5461;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1M1D1M;DP=183;DPB=158.667;DPRA=0;EPP=4.88833;EPPR=13.3141;GTI=0;LEN=1;MEANALT=4;MQM=39.2838;MQMR=40.5196;NS=1;NUMALT=1;ODDS=279.105;PAIRED=1;PAIREDR=0.980392;PAO=0.5;PQA=0;PQR=0;PRO=0.5;QA=2141;QR=3324;RO=102;RPL=29;RPP=10.5224;RPPR=24.8102;RPR=45;RUN=1;SAF=48;SAP=17.2129;SAR=26;SF=0;SRF=53;SRP=3.35092;SRR=49;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-130.858,0,-234.179:183:102:74:2141:3324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152832708 . G T 7166.55 . AB=0.51751;ABP=5.06348;AC=1;AF=0.5;AN=2;AO=399;CIGAR=1X;DP=771;DPB=771;DPRA=0;EPP=14.0309;EPPR=5.92972;GTI=0;LEN=1;MEANALT=3;MQM=40.1078;MQMR=40.65;NS=1;NUMALT=1;ODDS=1600.17;PAIRED=0.974937;PAIREDR=0.983333;PAO=0;PQA=0;PQR=0;PRO=0;QA=10985;QR=10721;RO=360;RPL=209;RPP=4.97497;RPPR=11.7203;RPR=190;RUN=1;SAF=194;SAP=3.66882;SAR=205;SF=0;SRF=170;SRP=5.42305;SRR=190;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon6:c.C328A:p.P110T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.295;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-3.58;FATHMM_pred=D;PROVEAN_score=-0.09;PROVEAN_pred=N;VEST3_score=0.424;CADD_raw=2.668;CADD_phred=20.6;DANN_score=0.984;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_pred=D;MetaSVM_score=0.402;MetaSVM_pred=D;MetaLR_score=0.784;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.943;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.392;GDI_full_10282015=.;dpsi_max_tissue=8.2004;dpsi_zscore=2.954;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-726.188,0,-704.452:771:360:399:10985:10721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152832770 . T A 4971.04 . AB=0.422182;ABP=32.4126;AC=2;AF=0.5;AN=4;AO=236;CIGAR=1X;DP=1234;DPB=559;DPRA=0;EPP=8.31016;EPPR=30.6325;GTI=0;LEN=1;MEANALT=2;MQM=39.0212;MQMR=40.9161;NS=1;NUMALT=1;ODDS=998.607;PAIRED=0.978814;PAIREDR=0.987578;PAO=0;PQA=0;PQR=0;PRO=0;QA=7193;QR=10405;RO=322;RPL=115;RPP=3.34154;RPPR=6.89467;RPR=121;RUN=1;SAF=113;SAP=3.93042;SAR=123;SF=0;SRF=146;SRP=9.07963;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs375071046;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.281e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.505e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7252;dpsi_zscore=-1.290;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.153e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.801e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-444.554,0,-733.344:559:322:236:7193:10405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-570.85,0,-846.522:675:381:292:8916:12186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152847284 . A G 5500.11 . AB=0.434014;ABP=30.8081;AC=1;AF=0.5;AN=2;AO=319;CIGAR=1X;DP=735;DPB=735;DPRA=0;EPP=3.83396;EPPR=25.3289;GTI=0;LEN=1;MEANALT=3;MQM=39.6646;MQMR=39.1444;NS=1;NUMALT=1;ODDS=1266.45;PAIRED=0.962382;PAIREDR=0.97861;PAO=0;PQA=0;PQR=0;PRO=0;QA=9014;QR=10876;RO=374;RPL=136;RPP=18.0472;RPPR=22.5419;RPR=183;RUN=1;SAF=147;SAP=7.26475;SAR=172;SF=0;SRF=166;SRP=13.2522;SRR=208;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon4:c.T156C:p.D52D,SYNE1:NM_182961:exon5:c.T156C:p.D52D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0084;esp6500siv2_ea=0.0114;esp6500siv2_all=0.0084;esp6500siv2_ea=0.0114;1000g2015aug_all=0.00279553;avsnp147=rs139156106;Kaviar_AF=0.0076648;Kaviar_AC=1185;Kaviar_AN=154602;ExAC_ALL=0.0077;ExAC_AFR=0.0017;ExAC_AMR=0.0013;ExAC_EAS=0.0001;ExAC_FIN=0.0126;ExAC_NFE=0.0119;ExAC_OTH=0.0033;ExAC_SAS=0.0012;CLNALLELEID=252211;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2696;dpsi_zscore=1.671;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0.0123;gnomAD_exome_NFE=0.0112;gnomAD_exome_OTH=0.0058;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0172;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-560.539,0,-721.84:735:374:319:9014:10876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr6 152847335 . G A 9611.00 . AB=0.51733;ABP=5.0424;AC=79;AF=0.5;AN=128;AO=403;CIGAR=1X;DP=46918;DPB=779;DPRA=0;EPP=28.6638;EPPR=21.0067;GTI=0;LEN=1;MEANALT=3;MQM=39.5856;MQMR=38.9699;NS=1;NUMALT=1;ODDS=1581.15;PAIRED=0.990074;PAIREDR=0.989041;PAO=0;PQA=0;PQR=0;PRO=0;QA=12529;QR=10905;RO=365;RPL=232;RPP=23.06;RPPR=9.48902;RPR=171;RUN=1;SAF=161;SAP=38.3627;SAR=242;SF=0,1;SRF=158;SRP=17.2944;SRR=207;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.2584;esp6500siv2_ea=0.3233;esp6500siv2_all=0.2584;esp6500siv2_ea=0.3233;1000g2015aug_all=0.264177;avsnp147=rs2141152;Kaviar_AF=0.288366;Kaviar_AC=44582;Kaviar_AN=154602;ExAC_ALL=0.2957;ExAC_AFR=0.1293;ExAC_AMR=0.1391;ExAC_EAS=0.4456;ExAC_FIN=0.4755;ExAC_NFE=0.3249;ExAC_OTH=0.3393;ExAC_SAS=0.2389;CLNALLELEID=252212;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6097;dpsi_zscore=1.236;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2951;gnomAD_exome_AFR=0.1244;gnomAD_exome_AMR=0.1396;gnomAD_exome_ASJ=0.2807;gnomAD_exome_EAS=0.4454;gnomAD_exome_FIN=0.4643;gnomAD_exome_NFE=0.3243;gnomAD_exome_OTH=0.2979;gnomAD_exome_SAS=0.2424;gnomAD_genome_ALL=0.2898;gnomAD_genome_AFR=0.1289;gnomAD_genome_AMR=0.1787;gnomAD_genome_ASJ=0.2550;gnomAD_genome_EAS=0.4438;gnomAD_genome_FIN=0.4522;gnomAD_genome_NFE=0.3317;gnomAD_genome_OTH=0.3544;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-842.376,0,-698.651:779:365:403:12529:10905 0/1:-560.289,0,-641.044:629:328:285:8779:9784 1/1:-1881.15,-182.409,0:769:16:738:22685:506 0/1:-839.243,0,-827.043:834:400:407:12610:12401 . . 0/1:-735.218,0,-677.07:701:334:359:10942:10276 0/1:-895.874,0,-877.159:908:440:451:13535:13416 0/1:-620.59,0,-815.707:747:397:328:9961:11998 . 0/1:-697.658,0,-665.533:699:342:339:10491:10169 . 0/1:-601.87,0,-557.669:583:277:288:8980:8473 1/1:-2525.68,-261.902,0:1001:12:971:30041:386 0/1:-565.534,0,-566.925:597:290:286:8599:8770 . 0/1:-832.505,0,-834.004:822:397:402:12530:12456 1/1:-1307.95,-150.904,0:526:3:516:15403:60 0/1:-560.69,0,-613.576:570:293:268:8559:9013 0/1:-902.443,0,-1148.74:1027:544:456:13999:16824 1/1:-1123.71,-108.645,0:468:11:444:13549:334 . . 0/1:-588.108,0,-600.567:620:307:292:9210:9079 0/1:-809.84,0,-651.785:731:329:386:12010:10105 0/1:-963.36,0,-784.821:876:402:453:14166:12090 1/1:-1580.6,-185.218,0:641:2:628:18818:50 1/1:-1383.36,-144.29,0:549:8:534:16345:213 0/1:-547.607,0,-702.855:644:342:287:8638:10359 . . 0/1:-321.69,0,-286.427:304:142:153:4780:4400 1/1:-2290.86,-246.415,0:889:8:871:27016:205 . . 0/1:-800.941,0,-1045.92:932:502:413:12589:15342 . . . 0/1:-512.356,0,-644.367:573:309:252:7920:9440 0/1:-651.409,0,-825.254:755:397:344:10323:12163 0/1:-752.595,0,-727.998:735:359:356:11326:11070 . 0/1:-791.544,0,-810.834:803:400:388:12092:12285 0/1:-688.773,0,-727.013:738:366:350:10573:10974 0/1:-474.061,0,-391.131:442:190:240:7172:6019 . . 0/1:-802.119,0,-881.906:847:435:400:12316:13390 0/1:-707.003,0,-742.564:764:375:371:10960:11426 0/1:-1119.49,0,-917.347:1030:469:533:16544:14121 0/1:-853.321,0,-700.749:770:344:407:12606:10753 . 1/1:-1582.81,-170.81,0:610:3:596:18516:108 . 0/1:-426.583,0,-420.086:448:214:221:6528:6476 . 0/1:-739.785,0,-619.39:691:320:361:11058:9555 . 0/1:-990.967,0,-926.469:957:458:477:15077:14160 . . . . . . 1/1:-1333.86,-127.444,0:544:12:523:16100:406 0/1:-618.375,0,-791.438:729:388:325:9798:11866 . . 0/1:-842.829,0,-951.133:896:462:420:12973:14339 . . 1/1:-2159.38,-219.291,0:873:15:846:25913:464 . 0/1:-944.578,0,-875.125:906:430:456:14177:13328 0/1:-606.506,0,-447.045:530:224:295:8856:6992 0/1:-635.051,0,-468.076:567:248:308:9425:7639 . 0/1:-761.14,0,-953.678:877:466:387:12128:14214 . 1/1:-1867.18,-190.932,0:767:15:740:22256:439 0/1:-625.797,0,-616.776:651:321:313:9492:9567 1/1:-1646.43,-181.95,0:638:4:619:19358:63 . 1/1:-2035.3,-226.207,0:820:7:789:24124:180 0/1:-503.937,0,-481.203:508:243:254:7713:7323 0/1:-854.79,0,-866.648:877:429:431:12937:13181 0/1:-935.555,0,-1062.54:1029:527:475:14503:15826 1/1:-1706.03,-183.84,0:673:6:656:20350:193 0/1:-899.508,0,-885.906:900:445:435:13578:13501 . . . 0/1:-835.357,0,-747.045:754:361:384:12402:11156:361,384 . . 0/1:-432.273,0,-400.84:396:188:198:6307:5976:188,198 0/1:-683.95,0,-893.973:739:403:323:10354:12848:403,323 . 0/1:-992.437,0,-921.942:895:432:453:14594:13832:432,453 . 0/1:-837.277,0,-986.07:856:452:387:12576:14313:452,387 . . . 0/1:-833.471,0,-867.389:794:401:382:12365:12837:401,382 . 0/1:-757.915,0,-890.204:800:418:370:11592:13140:418,370 . 1/1:-2289.13,-198.791,0:890:24:856:27430:757:24,856 . . . chr6 152861065 . A G 2268.93 . AB=0.473154;ABP=4.87573;AC=1;AF=0.5;AN=2;AO=141;CIGAR=1X;DP=298;DPB=298;DPRA=0;EPP=4.87376;EPPR=4.1599;GTI=0;LEN=1;MEANALT=2;MQM=39.6667;MQMR=39.2614;NS=1;NUMALT=1;ODDS=522.441;PAIRED=0.950355;PAIREDR=0.993464;PAO=0;PQA=0;PQR=0;PRO=0;QA=3898;QR=4617;RO=153;RPL=43;RPP=49.5969;RPPR=55.8211;RPR=98;RUN=1;SAF=108;SAP=89.6382;SAR=33;SF=0;SRF=118;SRP=100.783;SRR=35;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs556872392;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.767e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.493e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2586;dpsi_zscore=-0.790;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.876e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.272e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.228e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-247.841,0,-301.112:298:153:141:3898:4617 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 35271254 . T C 1340.28 . AB=0.495767;ABP=3.17576;AC=61;AF=0.5;AN=112;AO=527;CIGAR=1X;DP=57296;DPB=1063;DPRA=0;EPP=63.3377;EPPR=4.51491;GTI=0;LEN=1;MEANALT=3;MQM=10.2391;MQMR=14.691;NS=1;NUMALT=1;ODDS=206.221;PAIRED=0.998102;PAIREDR=0.988484;PAO=0;PQA=0;PQR=0;PRO=0;QA=16167;QR=16537;RO=521;RPL=387;RPP=254.394;RPPR=70.2343;RPR=140;RUN=1;SAF=131;SAP=292.368;SAR=396;SF=0,1;SRF=140;SRP=245.086;SRR=381;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7p14.2;genomicSuperDups=Score\x3d0.973282\x3bName\x3dchr12:63971079;esp6500siv2_all=0.1522;esp6500siv2_ea=0.1782;esp6500siv2_all=0.1522;esp6500siv2_ea=0.1782;1000g2015aug_all=0.0888578;avsnp147=rs2075047;Kaviar_AF=0.0265132;Kaviar_AC=4099;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1003;dpsi_zscore=-0.450;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1195;gnomAD_genome_AFR=0.0926;gnomAD_genome_AMR=0.1050;gnomAD_genome_ASJ=0.2867;gnomAD_genome_EAS=0.0942;gnomAD_genome_FIN=0.0650;gnomAD_genome_NFE=0.1482;gnomAD_genome_OTH=0.1171;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-159.961,0,-347.636:1063:521:527:16167:16537 . 1/1:-790.593,-268.919,0:996:25:938:27752:789 . 0/1:-127.52,0,-282.04:976:494:469:13605:15667 0/1:-146.922,0,-298.74:1063:515:523:15617:16356 0/1:-73.1232,0,-358.373:940:527:387:11730:16820 . 0/1:-128.737,0,-296.71:981:486:476:14072:15478 1/1:-840.21,-275.802,0:976:14:943:28646:421 0/1:-93.444,0,-362.414:985:531:439:13138:17239 . . 0/1:-174.567,0,-421.8:1381:712:651:19742:22726 . . . . . . . 0/1:-152.832,0,-410.027:1304:684:604:18292:21649 0/1:-114.495,0,-383.011:1145:603:530:15252:19275 . . 0/1:-108.714,0,-475.022:1258:701:535:16013:21874 . 0/1:-77.015,0,-268.469:731:397:328:9778:12692 1/1:-759.459,-252.192,0:908:19:873:26164:527 0/1:-177.696,0,-417.355:1388:705:667:20167:22315 0/1:-137.454,0,-436.789:1181:631:540:16353:20271 0/1:-91.4338,0,-259.129:869:449:404:12027:14105 0/1:-143.99,0,-368.293:1169:600:551:16426:18813 . . 0/1:-143.291,0,-356.256:1134:585:529:16229:18727 . . 0/1:-172.141,0,-480.991:1391:716:650:19341:23189 . . . . 0/1:-102.598,0,-335.139:1080:574:491:14400:18558 0/1:-153.461,0,-311.985:1096:553:522:15759:17713 . . 0/1:-164.564,0,-353.184:1209:595:592:17966:19086 0/1:-125.082,0,-290.171:1056:545:495:14533:17244 0/1:-121.163,0,-259.345:987:506:466:14056:15978 . 0/1:-89.7134,0,-376.539:1126:607:498:14731:19323 . 0/1:-111.123,0,-223.94:809:399:396:11741:12999 . . 0/1:-78.8795,0,-236.091:745:391:336:10264:12498 . . . 0/1:-91.8982,0,-280.725:833:444:377:11571:14003 1/1:-618.328,-205.023,0:775:21:733:22370:624 0/1:-148.198,0,-428.916:1305:692:601:18123:22269 0/1:-133.618,0,-294.603:998:502:484:14472:16099 0/1:-71.5814,0,-131.976:651:321:314:9331:10232 0/1:-108.418,0,-397.032:1068:567:481:14251:18273 0/1:-118.106,0,-299.074:919:468:438:13071:14819 . . . . . 0/1:-95.2015,0,-228.008:832:420:392:11564:13611 0/1:-110.244,0,-414.978:1252:685:556:16278:21590 . . 0/1:-77.0851,0,-196.512:641:342:283:8607:10898 . 0/1:-107.915,0,-328.812:1090:579:494:14902:18647 . 0/1:-95.7827,0,-399.56:1150:630:501:14831:19877 . 0/1:-127.685,0,-219.331:898:438:441:13028:13977 0/1:-82.6896,0,-313.216:820:444:367:11034:14443 . 1/1:-938.046,-301.967,0:1152:32:1099:32774:964 . . . . . 0/1:-121.622,0,-288.226:990:497:477:14088:15880 0/1:-156.132,0,-330.586:1242:625:590:17581:19852 . 0/1:-98.4576,0,-514.103:1037:589:433:13818:18909:589,433 0/1:-156.672,0,-464.654:1052:553:490:15588:17841:553,490 . . 0/1:-133.764,0,-424.5:947:506:430:13766:16157:506,430 . . 0/1:-175.778,0,-449.058:1083:547:520:16496:17819:547,520 . 0/1:-134.291,0,-423.928:953:502:445:14085:16244:502,445 . 0/1:-110.807,0,-353.593:835:450:378:12244:14599:450,378 . . . 0/1:-121.042,0,-379.843:901:481:412:12914:15421:481,412 0/1:-166.498,0,-410.089:1067:546:513:16290:17431:546,513 0/1:-141.277,0,-392.778:930:475:447:14203:15295:475,447 0/1:-140.049,0,-356.243:926:474:438:14137:15241:474,438 0/1:-158.457,0,-389.033:1002:508:490:15441:16447:508,490 chr7 35280539 . G T 693.74 . AB=0.485423;ABP=4.27646;AC=1;AF=0.5;AN=2;AO=333;CIGAR=1X;DP=686;DPB=686;DPRA=0;EPP=3.32983;EPPR=3.40511;GTI=0;LEN=1;MEANALT=2;MQM=10.6997;MQMR=15.7727;NS=1;NUMALT=1;ODDS=159.739;PAIRED=0.981982;PAIREDR=0.980114;PAO=0;PQA=0;PQR=0;PRO=0;QA=10897;QR=11266;RO=352;RPL=66;RPP=266.463;RPPR=221.046;RPR=267;RUN=1;SAF=206;SAP=43.7075;SAR=127;SF=1;SRF=230;SRP=74.965;SRR=122;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon5:c.C765A:p.I255I,TBX20:NM_001166220:exon5:c.C765A:p.I255I;cytoBand=7p14.2;genomicSuperDups=Score\x3d0.973282\x3bName\x3dchr12:63971079;esp6500siv2_all=0.0265;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0265;esp6500siv2_ea=0.0006;1000g2015aug_all=0.0305511;avsnp147=rs6950175;Kaviar_AF=0.0093789;Kaviar_AC=1450;Kaviar_AN=154602;ExAC_ALL=0.0099;ExAC_AFR=0.0857;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0066;ExAC_SAS=0.0134;CLNALLELEID=509889;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2226;dpsi_zscore=-0.729;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0083;gnomAD_exome_AFR=0.0903;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0141;gnomAD_genome_ALL=0.0250;gnomAD_genome_AFR=0.0858;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-109.351,0,-268.512:686:352:333:10897:11266:352,333 chr7 35288276 . T C 6850.51 . AB=0.491189;ABP=3.62252;AC=81;AF=0.5;AN=144;AO=446;CIGAR=1X;DP=62214;DPB=908;DPRA=0;EPP=182.493;EPPR=308.708;GTI=0;LEN=1;MEANALT=3;MQM=33.722;MQMR=36.9183;NS=1;NUMALT=1;ODDS=1341.56;PAIRED=0.959641;PAIREDR=0.947115;PAO=0;PQA=0;PQR=0;PRO=0;QA=10862;QR=11310;RO=416;RPL=239;RPP=7.99592;RPPR=6.53894;RPR=207;RUN=1;SAF=264;SAP=35.7479;SAR=182;SF=0,1;SRF=258;SRP=55.2092;SRR=158;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7p14.2;genomicSuperDups=.;esp6500siv2_all=0.3576;esp6500siv2_ea=0.3907;esp6500siv2_all=0.3576;esp6500siv2_ea=0.3907;1000g2015aug_all=0.34365;avsnp147=rs17675148;Kaviar_AF=0.378514;Kaviar_AC=58519;Kaviar_AN=154602;ExAC_ALL=0.3808;ExAC_AFR=0.2903;ExAC_AMR=0.5502;ExAC_EAS=0.2485;ExAC_FIN=0.4056;ExAC_NFE=0.3817;ExAC_OTH=0.3731;ExAC_SAS=0.3747;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5163;dpsi_zscore=-1.107;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3888;gnomAD_exome_AFR=0.2792;gnomAD_exome_AMR=0.5420;gnomAD_exome_ASJ=0.3637;gnomAD_exome_EAS=0.2541;gnomAD_exome_FIN=0.4026;gnomAD_exome_NFE=0.3819;gnomAD_exome_OTH=0.3857;gnomAD_exome_SAS=0.3749;gnomAD_genome_ALL=0.3590;gnomAD_genome_AFR=0.2863;gnomAD_genome_AMR=0.4952;gnomAD_genome_ASJ=0.3841;gnomAD_genome_EAS=0.2438;gnomAD_genome_FIN=0.4103;gnomAD_genome_NFE=0.3924;gnomAD_genome_OTH=0.3760;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-612.282,0,-663.718:908:416:446:10862:11310 . 0/1:-605.627,0,-722.543:899:429:421:10653:11789 . . . 0/1:-527.501,0,-606.842:802:382:381:9138:10168 . . 0/1:-689.372,0,-783.439:1043:487:508:12128:13122 . . . . 0/1:-405.634,0,-522.997:651:324:298:7165:8698 0/1:-860.497,0,-1060.59:1290:613:605:15110:17049 1/1:-1379.44,-203.297,0:765:9:725:17720:231 0/1:-1187.3,0,-1439.19:1789:864:845:20728:23411 0/1:-620.247,0,-731.526:895:438:419:10664:12220 0/1:-482.156,0,-450.028:671:289:351:8384:7797 . 0/1:-621.533,0,-807.11:986:478:461:11288:13234 0/1:-382.399,0,-493.876:610:292:293:6967:8039 0/1:-705.703,0,-943.509:1110:552:505:12353:15244 . 1/1:-1305.4,-195.69,0:739:10:704:16588:237 . . 0/1:-403.102,0,-563.548:710:348:329:7623:9229 . . . . . . . 0/1:-626.263,0,-716.928:932:436:454:11161:12006 0/1:-570.458,0,-815.191:963:493:439:10763:13197 . 0/1:-375.633,0,-459.445:594:282:282:6745:7642 . 0/1:-661.564,0,-695.994:941:429:472:11235:11548 0/1:-558.224,0,-753.426:904:453:409:10049:12283 0/1:-524.649,0,-828.735:927:491:396:9684:13295 1/1:-2188.79,-315.266,0:1197:17:1134:27227:406 . . 0/1:-286.825,0,-422.851:505:252:226:5312:6697 0/1:-504.283,0,-502.746:695:313:358:8580:8470 0/1:-758.652,0,-886.622:1139:550:539:13179:14759 0/1:-683.401,0,-725.566:966:439:487:11626:12133 0/1:-602.589,0,-740.63:944:456:438:10578:12330 . . 1/1:-1284.41,-187.543,0:681:7:654:15995:151 0/1:-479.814,0,-650.933:772:390:343:8617:10365 0/1:-636.411,0,-846.195:1015:506:467:11374:13823 0/1:-346.91,0,-461.485:596:294:283:6460:7740 . 0/1:-514.837,0,-696.063:837:426:380:9230:11497 1/1:-1206.92,-176.519,0:676:11:642:15474:242 . . . 0/1:-631.423,0,-953.608:1075:546:484:11610:15324 0/1:-579.727,0,-755.292:917:452:422:10382:12004 0/1:-363.066,0,-277.353:495:201:271:6284:5240 0/1:-518.666,0,-840.574:938:492:401:9767:13285 0/1:-393.296,0,-620.869:728:375:318:7261:9923 0/1:-647.369,0,-910.739:1060:535:487:11803:14545 1/1:-1611.75,-230.817,0:860:9:813:19814:214 0/1:-706.498,0,-996.127:1141:585:524:12619:16142 0/1:-738.545,0,-778.297:1038:475:532:12921:13081 . 0/1:-408.427,0,-695.308:721:388:301:7426:10764 0/1:-619.775,0,-685.987:919:439:439:10781:11668 0/1:-592.27,0,-813.894:962:482:440:10649:13176 1/1:-1793.83,-255.007,0:1007:21:947:22732:520 0/1:-356.911,0,-433.149:563:266:270:6542:7155 0/1:-375.489,0,-418.712:576:268:285:6737:7212 0/1:-646.599,0,-796.73:1017:496:480:11779:13292 0/1:-684.366,0,-762.554:1040:487:504:12082:13054 0/1:-710.579,0,-895.451:1071:519:506:12597:14585 0/1:-582.871,0,-561.587:798:360:402:9886:9698 0/1:-486.786,0,-566.379:737:359:345:8562:9666 . 0/1:-417.014,0,-576.257:712:349:327:7754:9479 . 0/1:-369.654,0,-428.35:557:260:271:6540:7269 1/1:-1726.32,-229.911,0:958:20:896:21724:584 0/1:-777.153,0,-993.204:1226:602:572:13938:16264 0/1:-590.661,0,-658.723:875:400:428:10470:11074 0/1:-779.39,0,-805.124:1069:504:524:13171:13638 0/1:-710.303,0,-650.879:972:424:502:12210:11332 0/1:-622.245,0,-741.079:951:457:451:10725:12430 . 0/1:-754.392,0,-923.54:838:434:388:11636:13610:434,388 0/1:-830.056,0,-759.423:820:384:421:12592:11698:384,421 0/1:-757.674,0,-890.88:851:435:400:11849:13357:435,400 0/1:-378.623,0,-538.174:463:244:208:6014:7716:244,208 . . 0/1:-735.117,0,-737.637:750:360:381:11260:11187:360,381 0/1:-746.905,0,-656.152:730:336:385:11216:10184:336,385 0/1:-646.647,0,-694.958:678:339:329:9886:10404:339,329 . 0/1:-784.704,0,-829.056:800:391:393:11780:12415:391,393 0/1:-450.354,0,-742.168:619:356:253:7376:10632:356,253 0/1:-608.357,0,-674.6:683:338:331:9603:10324:338,331 . 1/1:-1992.89,-202.184,0:847:20:807:23820:529:20,807 . . . . . chr7 35288326 . G A 3555.51 . AB=0.410061;ABP=49.1011;AC=1;AF=0.5;AN=2;AO=269;CIGAR=1X;DP=656;DPB=656;DPRA=0;EPP=14.0614;EPPR=7.7657;GTI=0;LEN=1;MEANALT=3;MQM=34.3532;MQMR=35.9134;NS=1;NUMALT=1;ODDS=818.686;PAIRED=0.959108;PAIREDR=0.963687;PAO=0;PQA=0;PQR=0;PRO=0;QA=7129;QR=11014;RO=358;RPL=159;RPP=22.3921;RPPR=18.1742;RPR=110;RUN=1;SAF=96;SAP=50.8715;SAR=173;SF=0;SRF=131;SRP=58.9106;SRR=227;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon3:c.C508T:p.L170L,TBX20:NM_001166220:exon3:c.C508T:p.L170L;cytoBand=7p14.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778761577;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.261e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.505e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2691;dpsi_zscore=-1.613;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.068e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.979e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-373.617,0,-688.157:656:358:269:7129:11014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 35293193 . A G 13657.50 . AB=0;ABP=0;AC=169;AF=1;AN=218;AO=858;CIGAR=1X;DP=98413;DPB=886;DPRA=0;EPP=85.01;EPPR=10.7656;GTI=0;LEN=1;MEANALT=3;MQM=31.6445;MQMR=25.7143;NS=1;NUMALT=1;ODDS=1143.83;PAIRED=0.904429;PAIREDR=0.857143;PAO=0;PQA=0;PQR=0;PRO=0;QA=25136;QR=155;RO=7;RPL=674;RPP=610.668;RPPR=3.32051;RPR=184;RUN=1;SAF=309;SAP=148.787;SAR=549;SF=0,1;SRF=5;SRP=5.80219;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.T39C:p.S13S,TBX20:NM_001166220:exon1:c.T39C:p.S13S;cytoBand=7p14.2;genomicSuperDups=.;esp6500siv2_all=0.7463;esp6500siv2_ea=0.6892;esp6500siv2_all=0.7463;esp6500siv2_ea=0.6892;1000g2015aug_all=0.69389;avsnp147=rs336283;Kaviar_AF=0.674991;Kaviar_AC=104355;Kaviar_AN=154602;ExAC_ALL=0.6767;ExAC_AFR=0.8577;ExAC_AMR=0.7115;ExAC_EAS=0.5654;ExAC_FIN=0.6532;ExAC_NFE=0.6791;ExAC_OTH=0.6775;ExAC_SAS=0.5961;CLNALLELEID=508825;CLNDN=Atrial_septal_defect_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969657,OMIM:611363|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6785;gnomAD_exome_AFR=0.8562;gnomAD_exome_AMR=0.7221;gnomAD_exome_ASJ=0.7119;gnomAD_exome_EAS=0.5644;gnomAD_exome_FIN=0.6544;gnomAD_exome_NFE=0.6824;gnomAD_exome_OTH=0.6877;gnomAD_exome_SAS=0.5974;gnomAD_genome_ALL=0.7209;gnomAD_genome_AFR=0.8596;gnomAD_genome_AMR=0.7196;gnomAD_genome_ASJ=0.7583;gnomAD_genome_EAS=0.5611;gnomAD_genome_FIN=0.6598;gnomAD_genome_NFE=0.6756;gnomAD_genome_OTH=0.65;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1869.17,-249.303,0:886:7:858:25136:155 0/1:-642.272,0,-773.161:988:502:431:12323:13484 0/1:-630.748,0,-630.928:832:397:398:11386:11045 1/1:-1410.77,-187.177,0:669:5:647:18909:110 1/1:-1927.66,-268.495,0:920:2:898:25803:28 . 1/1:-1656.57,-226.5,0:802:4:778:22228:113 0/1:-850.348,0,-678.144:1001:437:522:14785:12298 1/1:-1657.05,-201.769,0:785:15:757:22173:376 1/1:-2022.65,-283.739,0:986:3:958:27209:64 0/1:-746.849,0,-562.121:849:367:452:13045:10399 0/1:-729.739,0,-619.528:876:386:439:12756:10829 0/1:-714.446,0,-643.611:891:403:454:13013:11480 0/1:-633.054,0,-550.591:834:377:425:11943:10299 0/1:-572.792,0,-566.663:764:360:374:10704:10049 1/1:-2679.51,-355.054,0:1265:7:1222:35461:171 1/1:-1439.54,-204.722,0:711:2:689:19799:46 0/1:-1318.67,0,-1358.81:1770:871:832:24177:23806 1/1:-1953.54,-253.776,0:914:8:892:25864:227 0/1:-585.303,0,-435.072:696:309:363:10369:8336 0/1:-465.878,0,-458.694:636:302:311:8933:8366 1/1:-2168.55,-290.573,0:1011:4:987:28632:100 0/1:-369.39,0,-477.42:585:300:260:7317:8334 1/1:-2237.42,-291.704,0:1063:11:1023:29815:247 0/1:-847.089,0,-686.56:1017:446:525:15078:12586 1/1:-1706.34,-233.687,0:804:2:789:22718:50 . 0/1:-794.034,0,-734.664:1021:475:502:14256:13038 0/1:-559.4,0,-449.407:687:306:353:10004:8597 1/1:-1373.34,-174.256,0:642:8:625:18033:195 1/1:-1619.61,-217.232,0:758:4:750:21621:122 1/1:-2365.23,-315.471,0:1115:8:1086:31375:209 0/1:-755.906,0,-725.451:994:473:482:13978:13156 1/1:-1669.19,-235.986,0:807:1:787:21901:14 1/1:-2178.08,-281.918,0:999:7:971:28614:213 . 1/1:-1943.7,-259.105,0:922:9:893:25753:188 1/1:-1902.55,-260.613,0:903:5:879:24921:114 . 0/1:-489.308,0,-499.182:633:303:309:8862:8569 0/1:-929.452,0,-605.831:1058:451:566:16197:12230 0/1:-755.628,0,-530.821:868:370:465:13337:10240 0/1:-724.848,0,-763.459:997:486:468:13372:13684 0/1:-638.626,0,-596.926:851:409:404:11650:10803 1/1:-2249.26,-305.82,0:1058:4:1037:29794:114 1/1:-2025.03,-269.591,0:946:6:926:26956:172 0/1:-702.065,0,-796.279:988:497:457:12871:13837 0/1:-401.185,0,-389.027:544:248:264:7306:6975 1/1:-1632.79,-213.57,0:761:6:742:22124:142 1/1:-2220.12,-299.327,0:1060:9:1029:30306:183 1/1:-2032.25,-273.885,0:982:9:956:27358:197 1/1:-1714.35,-241.877,0:885:10:849:24126:257 0/1:-1051.55,0,-736.037:1153:490:613:18021:13705 1/1:-2191.71,-289.515,0:1038:11:1002:29151:203 1/1:-1466.58,-207.334,0:711:2:699:19958:41 1/1:-1694.07,-226.212,0:782:4:766:22447:100 0/1:-683.778,0,-699.657:949:452:463:13230:12703 0/1:-419.061,0,-364.574:581:262:280:7855:6985 0/1:-491.424,0,-513.244:685:329:325:9440:9287 0/1:-715.371,0,-491.245:841:355:433:12400:9467 1/1:-1174.28,-162.311,0:567:3:554:15837:60 0/1:-846.015,0,-751.994:1109:509:556:15848:14096 1/1:-1606.01,-217.307,0:744:1:728:21084:36 1/1:-1348.41,-195.267,0:695:5:681:19082:150 1/1:-2454.67,-338.543,0:1141:1:1126:32655:36 1/1:-1959.92,-267.731,0:930:2:905:25862:72 1/1:-1162.63,-176.404,0:601:0:586:16254:0 1/1:-1843.72,-245.647,0:857:4:838:24492:96 1/1:-1578.57,-216.48,0:770:6:750:21306:163 0/1:-704.341,0,-678.245:965:450:479:13193:12512 1/1:-1945.37,-261.505,0:899:3:882:25729:55 1/1:-2268.17,-300.09,0:1056:9:1033:30305:210 1/1:-2292.55,-308.024,0:1045:2:1026:30140:72 . 1/1:-1659.84,-224.755,0:795:4:773:22044:103 1/1:-2235.86,-312.392,0:1071:2:1044:29847:28 0/1:-743.652,0,-762.476:1017:505:464:13517:13517 1/1:-2157.69,-298.484,0:1051:5:1023:28969:154 1/1:-1284.83,-172.901,0:616:4:595:17347:92 0/1:-373.883,0,-417.067:531:265:245:7100:7324 1/1:-1996.62,-277.83,0:967:3:937:26898:82 1/1:-2069.03,-269.617,0:996:14:959:27801:310 1/1:-2178.63,-294.137,0:1021:6:1002:29122:111 0/1:-729.924,0,-556.679:864:378:440:12810:10329 1/1:-1536.45,-223.966,0:756:0:744:20994:0 0/1:-713.255,0,-607.485:860:397:425:12242:11047 0/1:-442.72,0,-469.643:655:306:313:8763:8310 1/1:-1789.78,-242.185,0:900:12:875:25085:294 0/1:-410.596,0,-379.121:532:248:263:7476:6938 1/1:-1859.96,-253.807,0:884:6:859:24472:97 0/1:-965.328,0,-749.18:1133:490:598:17175:13583 0/1:-679.679,0,-660.611:878:425:419:12266:11795 0/1:-927.682,0,-782.988:1134:502:584:16524:14081 1/1:-1944.44,-269.69,0:919:2:902:25938:28 1/1:-2104.91,-280.581,0:981:6:961:27826:123 . 1/1:-2786.32,-297.582,0:1062:7:1038:32681:221:7,1038 1/1:-2485.85,-278.113,0:953:3:937:29113:55:3,937 1/1:-2860.98,-317.266,0:1114:7:1094:33943:160:7,1094 0/1:-642.396,0,-478.456:580:263:305:9576:7526:263,305 0/1:-898.041,0,-715.311:809:369:425:13272:11066:369,425 1/1:-2738.98,-309.196,0:1063:4:1043:32156:121:4,1043 1/1:-2331.86,-247.967,0:894:7:874:27499:195:7,874 1/1:-2601.32,-284.346,0:996:4:972:30597:131:4,972 0/1:-936.83,0,-1001.79:969:494:454:14310:15183:494,454 0/1:-1123.95,0,-1045.38:1060:517:523:16691:15671:517,523 0/1:-1093.48,0,-1060.9:1081:539:518:16447:16237:539,518 1/1:-2108.62,-226.774,0:797:4:788:24787:140:4,788 0/1:-1043.78,0,-945.285:965:466:487:15536:14389:466,487 . 1/1:-3303.84,-365.687,0:1272:7:1252:38784:169:7,1252 0/1:-864.566,0,-900.896:917:456:439:13448:13694:456,439 0/1:-1220.46,0,-1033.51:1138:533:586:18431:15931:533,586 0/1:-802.874,0,-956.765:887:471:400:12460:14210:471,400 0/1:-1112.89,0,-928.6:1006:468:522:16464:14292:468,522 1/1:-2967.63,-324.175,0:1136:5:1115:35101:154:5,1115 chr7 81579832 . TAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC TAAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC,TAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC 1442.24 . AB=0.298077;ABP=150.336;AC=15,0;AF=0.5;AN=46;AO=124;CIGAR=1M1I11M;DP=8948;DPB=440.333;DPRA=0;EPP=6.44263;EPPR=4.107;GTI=0;LEN=1;MEANALT=44;MQM=34.9516;MQMR=39.9848;NS=1;NUMALT=1;ODDS=277.617;PAIRED=0.895161;PAIREDR=0.979798;PAO=12.5;PQA=269.5;PQR=269.5;PRO=12.5;QA=2825;QR=6118;RO=198;RPL=62;RPP=3.0103;RPPR=12.8806;RPR=62;RUN=1;SAF=49;SAP=14.8483;SAR=75;SF=0,1;SRF=96;SRP=3.40511;SRR=102;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0794;esp6500siv2_ea=0.0808;esp6500siv2_all=0.0794;esp6500siv2_ea=0.0808;1000g2015aug_all=0.0621006;avsnp147=rs367960608;Kaviar_AF=0.0018111;Kaviar_AC=280;Kaviar_AN=154602;ExAC_ALL=0.0944;ExAC_AFR=0.0764;ExAC_AMR=0.1752;ExAC_EAS=0.0254;ExAC_FIN=0.0815;ExAC_NFE=0.0992;ExAC_OTH=0.0767;ExAC_SAS=0.0815;CLNALLELEID=212615;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0963;gnomAD_exome_AFR=0.0805;gnomAD_exome_AMR=0.1679;gnomAD_exome_ASJ=0.0528;gnomAD_exome_EAS=0.0262;gnomAD_exome_FIN=0.0848;gnomAD_exome_NFE=0.0996;gnomAD_exome_OTH=0.0989;gnomAD_exome_SAS=0.0789;gnomAD_genome_ALL=0.0773;gnomAD_genome_AFR=0.0694;gnomAD_genome_AMR=0.1422;gnomAD_genome_ASJ=0.0257;gnomAD_genome_EAS=0.0212;gnomAD_genome_FIN=0.0823;gnomAD_genome_NFE=0.0856;gnomAD_genome_OTH=0.0709;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0097;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0097;1000g2015aug_all=.;avsnp147=rs766092275;Kaviar_AF=0.0102392;Kaviar_AC=1583;Kaviar_AN=154602;ExAC_ALL=0.0160;ExAC_AFR=0.0087;ExAC_AMR=0.0136;ExAC_EAS=0.0124;ExAC_FIN=0.0020;ExAC_NFE=0.0177;ExAC_OTH=0.0256;ExAC_SAS=0.0230;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0089;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0117;gnomAD_exome_ASJ=0.0078;gnomAD_exome_EAS=0.0131;gnomAD_exome_FIN=0.0050;gnomAD_exome_NFE=0.0076;gnomAD_exome_OTH=0.0146;gnomAD_exome_SAS=0.0139;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0004;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0051;gnomAD_genome_FIN=0.0030;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0024;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:.,.,-414.689,.,.,.:416:198:124,.:2825,.:6118 . . . . . . . . . . . . . . . . . . 0/1:.,.,-410.216,.,.,.:404:193:122,.:2937,.:6068 . . . . . . 0/1:.,.,-160.852,.,.,.:126:71:34,.:872,.:2246 . . . . . . . . . . 0/1:.,.,-600.081,.,.,.:583:286:191,.:4667,.:8832 . . . . . . . . 0/1:.,.,-370.344,.,.,.:385:170:128,.:2789,.:5408 . . . . . 0/1:.,.,-367.229,.,.,.:377:179:121,.:2872,.:5517 . 0/1:.,.,-550.559,.,.,.:480:247:155,.:3800,.:7874 . 0/1:.,.,-336.583,.,.,.:320:156:94,.:2204,.:4948 . . . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-12.5368,.,.,.:331:32:211,.:4899,.:1029 . . . . . 0/1:.,.,-430.129,.,.,.:457:195:152,.:3696,.:6216 . . . 0/1:-132.232,0,-348.421,.,.,.:367:154:99,.:2563,.:5020:154,99 0/0:0,.,.,-47.3808,.,-724.2:433:274:.,25:.,657:8955:274,25 . . . 0/1:-136.113,0,-416.248,.,.,.:466:191:109,.:3008,.:6204:191,109 0/0:0,.,.,-28.6219,.,-677.869:430:269:.,29:.,843:8682:269,29 0/0:0,.,.,-41.164,.,-646.329:395:250:.,24:.,643:8148:250,24 0/0:0,.,.,-52.0059,.,-726.944:429:274:.,23:.,619:8943:274,23 0/1:-95.7237,0,-271.772,.,.,.:306:122:70,.:1943,.:3979:122,70 . . 0/0:0,.,.,-39.127,.,-670.466:362:253:.,19:.,555:8238:253,19 0/1:-124.036,0,-333.003,.,.,.:412:157:100,.:2577,.:5058:157,100 . . 0/0:0,.,.,-27.9529,.,-561.002:392:221:.,22:.,682:7119:221,22 0/0:0,.,.,-16.133,.,-622.606:403:248:.,30:.,917:8034:248,30 0/0:0,.,.,-49.2904,.,-737.172:432:283:.,23:.,636:9114:283,23 0/1:-62.6052,0,-220.515,.,.,.:242:96:52,.:1360,.:3152:96,52 chr7 81588609 . G A 4444.00 . AB=0.451852;ABP=13.8837;AC=1;AF=0.5;AN=2;AO=244;CIGAR=1X;DP=540;DPB=540;DPRA=0;EPP=6.57009;EPPR=12.7145;GTI=0;LEN=1;MEANALT=3;MQM=40.2418;MQMR=40.3552;NS=1;NUMALT=1;ODDS=1023.27;PAIRED=0.97541;PAIREDR=0.97931;PAO=0;PQA=0;PQR=0;PRO=0;QA=7170;QR=8996;RO=290;RPL=109;RPP=9.02635;RPPR=8.07208;RPR=135;RUN=1;SAF=149;SAP=28.9612;SAR=95;SF=0;SRF=185;SRP=50.9324;SRR=105;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon38:c.C3141T:p.C1047C;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2702;dpsi_zscore=-1.613;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-456.159,0,-618.132:540:290:244:7170:8996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 81588636 . G A 8618.62 . AB=0.47466;ABP=7.52235;AC=83;AF=0.5;AN=136;AO=384;CIGAR=1X;DP=46678;DPB=809;DPRA=0;EPP=6.26751;EPPR=16.1867;GTI=0;LEN=1;MEANALT=3;MQM=39.8802;MQMR=40.0291;NS=1;NUMALT=1;ODDS=1676.59;PAIRED=0.992188;PAIREDR=0.978155;PAO=0;PQA=0;PQR=0;PRO=0;QA=11520;QR=12459;RO=412;RPL=125;RPP=104.549;RPPR=103.383;RPR=259;RUN=1;SAF=229;SAP=33.9764;SAR=155;SF=0,1;SRF=240;SRP=27.3814;SRR=172;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon38:c.C3114T:p.P1038P;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.2553;esp6500siv2_ea=0.3153;esp6500siv2_all=0.2553;esp6500siv2_ea=0.3153;1000g2015aug_all=0.222644;avsnp147=rs1229502;Kaviar_AF=0.282655;Kaviar_AC=43699;Kaviar_AN=154602;ExAC_ALL=0.2859;ExAC_AFR=0.1376;ExAC_AMR=0.3414;ExAC_EAS=0.2456;ExAC_FIN=0.2776;ExAC_NFE=0.3047;ExAC_OTH=0.2721;ExAC_SAS=0.2898;CLNALLELEID=252942;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.0141;dpsi_zscore=-2.158;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2913;gnomAD_exome_AFR=0.1351;gnomAD_exome_AMR=0.3434;gnomAD_exome_ASJ=0.3164;gnomAD_exome_EAS=0.2368;gnomAD_exome_FIN=0.2835;gnomAD_exome_NFE=0.3061;gnomAD_exome_OTH=0.2908;gnomAD_exome_SAS=0.2870;gnomAD_genome_ALL=0.2508;gnomAD_genome_AFR=0.1352;gnomAD_genome_AMR=0.2981;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.2162;gnomAD_genome_FIN=0.2905;gnomAD_genome_NFE=0.3054;gnomAD_genome_OTH=0.2965;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-749.145,0,-834.134:809:412:384:11520:12459 0/1:-908.185,0,-1000.73:970:491:464:13932:14883 0/1:-781.249,0,-634.578:726:328:382:11467:9865 . . 0/1:-742.431,0,-884.655:857:447:393:11558:13106 . . 0/1:-611.14,0,-598.079:626:306:312:9153:9128 0/1:-842.662,0,-887.807:897:447:428:12867:13269 . 0/1:-741.47,0,-830.757:798:410:374:11234:12308 . 1/1:-1502.33,-151.761,0:611:13:592:17793:348 0/1:-687.337,0,-504.371:605:268:331:10187:7906 0/1:-1092.95,0,-937.008:1028:478:535:16414:14400 0/1:-689.728,0,-537.431:648:287:348:10409:8436 0/1:-1297.79,0,-1222.02:1317:636:657:19545:18474 0/1:-890.203,0,-711.647:793:356:423:13007:10825 0/1:-523.503,0,-520.41:553:270:273:8045:7903 1/1:-1584.57,-181.149,0:635:3:628:18505:99 . . . . 0/1:-579.753,0,-635.803:648:327:308:9040:9655 0/1:-771.608,0,-717.513:758:362:381:11432:10744 0/1:-1024.62,0,-870.057:954:445:496:15141:13249 0/1:-553.208,0,-548.627:570:277:282:8398:8374 . . 0/1:-1032.37,0,-803.288:935:419:502:15224:12575 0/1:-856.676,0,-785.91:840:393:431:12889:11875 . 0/1:-808.595,0,-751.227:790:378:405:12047:11330 . 0/1:-119.943,0,-208.899:171:101:68:1984:2971 . 0/1:-783.062,0,-579.799:715:318:387:11542:9253 . . 1/1:-1680.45,-184.627,0:671:6:661:19578:181 0/1:-675.329,0,-660.758:690:330:346:10166:10065 . 1/1:-2691.63,-304.087,0:1077:7:1064:31499:208 . 0/1:-592.834,0,-608.12:621:303:312:9117:9182 0/1:-437.119,0,-371.554:418:189:219:6427:5653 0/1:-622.489,0,-688.333:701:359:326:9585:10317 0/1:-879.628,0,-766.744:834:386:435:13218:11699 0/1:-740.109,0,-866.591:803:419:376:11364:12713 1/1:-2104.15,-238.256,0:868:8:856:24875:247 0/1:-900.913,0,-880.321:915:443:457:13578:13309 0/1:-699.631,0,-842.579:795:415:367:10865:12455 . 0/1:-570.592,0,-619.824:610:314:290:8756:9204 0/1:-702.226,0,-709.388:714:352:351:10625:10596 1/1:-1223.68,-134.098,0:502:6:492:14515:184 0/1:-605.971,0,-545.528:596:270:307:9026:8278 . . . 1/1:-1726.12,-186.862,0:673:5:661:20225:159 . 0/1:-984.225,0,-1033.62:1012:507:489:14742:15415 0/1:-842.963,0,-765.967:821:391:422:12546:11599 0/1:-441.904,0,-524.465:520:272:240:7009:7855 0/1:-887.708,0,-640.956:776:343:423:12969:10034 1/1:-1159.65,-105.919,0:491:14:472:13941:457 . . . 0/1:-953.634,0,-850.431:923:440:469:14010:12925 0/1:-368.013,0,-455.605:483:247:222:5993:6923 . . 0/1:-785.212,0,-681.613:754:362:377:11684:10511 . 0/1:-496.241,0,-485.264:504:245:252:7523:7393 1/1:-1289.68,-130.876,0:514:9:497:15193:243 1/1:-2145.65,-220.348,0:870:13:849:25438:443 . 0/1:-671.365,0,-975.054:838:472:355:10717:14056 0/1:-691.84,0,-675.806:708:344:350:10355:10214 0/1:-521.188,0,-486.361:531:261:260:7777:7522 0/1:-632.779,0,-638.249:639:317:316:9674:9542 . . . 1/1:-2155.92,-230.87,0:897:16:873:25591:420 0/1:-1138.65,0,-849.438:1037:460:550:16608:13276 . . 0/1:-646.941,0,-714.782:715:363:339:9919:10765 . . . . . . 1/1:-1005.27,-92.4271,0:400:10:388:11978:322:10,388 0/1:-495.471,0,-610.25:542:286:249:7527:8866:286,249 0/1:-398.216,0,-322.25:353:163:184:5777:4887:163,184 1/1:-1026.72,-103.236,0:395:5:385:11928:159:5,385 . 0/1:-367.044,0,-354.981:349:171:173:5461:5302:171,173 . 0/1:-319.543,0,-389.021:341:181:154:4821:5579:181,154 . . 1/1:-965.394,-91.3368,0:383:8:372:11488:260:8,372 0/1:-386.048,0,-363.989:371:177:191:5861:5459:177,191 1/1:-946.902,-93.5909,0:361:5:354:11101:163:5,354 0/1:-376.236,0,-488.299:408:223:181:5751:7069:223,181 . . chr7 81591716 . T G 5072.46 . AB=0.412008;ABP=35.4925;AC=82;AF=0.5;AN=134;AO=199;CIGAR=1X;DP=26596;DPB=483;DPRA=0;EPP=40.9947;EPPR=13.1334;GTI=0;LEN=1;MEANALT=2;MQM=39.5176;MQMR=39.6151;NS=1;NUMALT=1;ODDS=858.978;PAIRED=1;PAIREDR=0.971223;PAO=0;PQA=0;PQR=0;PRO=0;QA=6208;QR=8466;RO=278;RPL=116;RPP=14.8934;RPPR=27.5058;RPR=83;RUN=1;SAF=83;SAP=14.8934;SAR=116;SF=0,1;SRF=146;SRP=4.54127;SRR=132;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.2604;esp6500siv2_ea=0.3168;esp6500siv2_all=0.2604;esp6500siv2_ea=0.3168;1000g2015aug_all=0.230232;avsnp147=rs1229503;Kaviar_AF=0.271678;Kaviar_AC=42002;Kaviar_AN=154602;ExAC_ALL=0.3257;ExAC_AFR=0.1679;ExAC_AMR=0.4100;ExAC_EAS=0.2971;ExAC_FIN=0.3026;ExAC_NFE=0.3482;ExAC_OTH=0.3085;ExAC_SAS=0.3134;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0158;dpsi_zscore=-0.077;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2981;gnomAD_exome_AFR=0.1492;gnomAD_exome_AMR=0.3542;gnomAD_exome_ASJ=0.3267;gnomAD_exome_EAS=0.2482;gnomAD_exome_FIN=0.2766;gnomAD_exome_NFE=0.3118;gnomAD_exome_OTH=0.2987;gnomAD_exome_SAS=0.2936;gnomAD_genome_ALL=0.2542;gnomAD_genome_AFR=0.1516;gnomAD_genome_AMR=0.3026;gnomAD_genome_ASJ=0.3411;gnomAD_genome_EAS=0.2229;gnomAD_genome_FIN=0.2804;gnomAD_genome_NFE=0.3041;gnomAD_genome_OTH=0.2943;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-388.592,0,-577.076:483:278:199:6208:8466 0/1:-606.053,0,-472.392:530:234:289:8931:7432 0/1:-478.787,0,-501.538:481:238:241:7309:7510 . . 0/1:-546.85,0,-435.295:472:214:256:8131:6698 . . 0/1:-428.998,0,-376.989:387:183:204:6433:5847 0/1:-563.114,0,-493.56:516:247:267:8366:7737 . 0/1:-498.179,0,-437.199:464:216:246:7451:6701 . 1/1:-826.076,-88.3602,0:340:10:329:9950:162 . 0/1:-487.221,0,-500.465:484:246:236:7351:7604 0/1:-367.731,0,-359.779:352:170:180:5538:5478 0/1:-860.555,0,-847.495:813:400:410:12879:12685 0/1:-416.478,0,-510.348:464:249:211:6595:7577 0/1:-358.137,0,-296.962:321:155:166:5314:4697 1/1:-788.556,-78.0903,0:324:10:312:9424:219 . . . . 0/1:-373.74,0,-341.101:357:171:180:5627:5382 0/1:-444.792,0,-399.594:411:191:215:6617:6068 0/1:-557.581,0,-525.32:537:253:277:8408:7963 0/1:-317.924,0,-290.174:317:150:163:4936:4522 . . 0/1:-665.793,0,-594.916:614:289:318:9840:9013 0/1:-522.708,0,-512.088:521:252:262:7923:7869 . 0/1:-445.935,0,-520.414:465:244:218:6811:7695 . 0/1:-108.808,0,-84.2764:96:44:50:1602:1352 . 0/1:-374.375,0,-429.306:402:211:188:5864:6514 . . 1/1:-936.81,-95.8066,0:367:8:356:11207:178 0/1:-391.636,0,-444.525:412:216:195:6171:6620 . 1/1:-1518.24,-165.013,0:608:9:595:18145:201 . 0/1:-385.367,0,-439.757:410:204:204:5997:6587 0/1:-284.083,0,-287.601:278:140:137:4308:4361 0/1:-442.026,0,-348.454:403:186:213:6704:5582 0/1:-610.643,0,-561.867:564:265:294:9047:8497 0/1:-467.369,0,-414.149:435:203:228:6947:6355 1/1:-1019.83,-106.252,0:422:11:405:12440:231 0/1:-538.864,0,-661.641:588:317:269:8355:9853 0/1:-511.45,0,-461.772:471:223:243:7562:7222 . 0/1:-317.175,0,-389.418:346:182:162:5013:5839 0/1:-405.163,0,-476.46:439:237:197:6224:7235 1/1:-637.562,-57.8354,0:261:10:249:7803:241 0/1:-292.076,0,-391.744:340:177:156:4655:5691 . . . 1/1:-955.459,-87.5432,0:376:13:361:11502:293 . 0/1:-583.791,0,-578.698:574:276:294:8921:8812 0/1:-473.328,0,-357.214:399:175:218:6867:5526 0/1:-301.059,0,-238.419:283:121:158:4567:3847 0/1:-465.833,0,-400.765:442:204:233:6986:6392 1/1:-699.982,-69.7995,0:287:7:277:8507:177 . . . 0/1:-568.73,0,-463.067:515:229:280:8495:7154 0/1:-359.972,0,-247.353:334:145:186:5654:4191 . . 0/1:-479.409,0,-425.052:443:209:230:7261:6633 . 0/1:-310.734,0,-278.721:296:141:152:4629:4480 1/1:-744.611,-78.0893,0:313:10:298:8937:197 1/1:-1125.54,-114.121,0:449:9:433:13416:243 . 0/1:-426.612,0,-506.661:455:240:211:6547:7589 0/1:-416.679,0,-388.719:393:192:195:6250:6028 0/1:-374.478,0,-357.805:388:187:193:5865:5640 0/1:-332.862,0,-394.034:366:190:172:5196:5994 . . . 1/1:-1235.9,-107.349,0:534:26:505:15211:619 0/1:-522.012,0,-589.079:548:286:258:7971:8921 . . 0/1:-392.567,0,-408.132:390:197:188:5873:6134 . . . . . . 1/1:-627.098,-62.7994,0:248:6:242:7558:163:6,242 0/1:-289.72,0,-339.951:292:154:137:4364:4929:154,137 0/1:-224.674,0,-223.993:200:101:99:3286:3254:101,99 1/1:-522.633,-54.3453,0:196:2:194:6102:50:2,194 . 0/1:-216.962,0,-223.659:199:101:98:3240:3275:101,98 . 0/1:-239.073,0,-209.807:210:101:108:3502:3189:101,108 . . 1/1:-632.834,-59.7003,0:253:6:244:7493:175:6,244 0/1:-320.873,0,-231.873:254:111:143:4625:3581:111,143 1/1:-554.766,-33.7004,0:224:13:210:6735:380:13,210 0/1:-302.709,0,-230.256:240:106:134:4335:3526:106,134 . . chr7 81593454 . G A 7040.35 . AB=0;ABP=0;AC=51;AF=1;AN=90;AO=657;CIGAR=1X;DP=27462;DPB=695;DPRA=0;EPP=30.3801;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.7397;MQMR=38.6818;NS=1;NUMALT=1;ODDS=722.24;PAIRED=0.984779;PAIREDR=0.954545;PAO=0;PQA=0;PQR=0;PRO=0;QA=20229;QR=707;RO=22;RPL=346;RPP=7.05909;RPPR=6.56362;RPR=311;RUN=1;SAF=172;SAP=326.811;SAR=485;SF=0,1;SRF=7;SRP=9.32731;SRR=15;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.2552;esp6500siv2_ea=0.2076;esp6500siv2_all=0.2552;esp6500siv2_ea=0.2076;1000g2015aug_all=0.257987;avsnp147=rs3735517;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;ExAC_ALL=0.2196;ExAC_AFR=0.3518;ExAC_AMR=0.1974;ExAC_EAS=0.1847;ExAC_FIN=0.2050;ExAC_NFE=0.2096;ExAC_OTH=0.1996;ExAC_SAS=0.2205;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1151;dpsi_zscore=0.528;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2170;gnomAD_exome_AFR=0.3535;gnomAD_exome_AMR=0.1990;gnomAD_exome_ASJ=0.2007;gnomAD_exome_EAS=0.1794;gnomAD_exome_FIN=0.2059;gnomAD_exome_NFE=0.2123;gnomAD_exome_OTH=0.2224;gnomAD_exome_SAS=0.2189;gnomAD_genome_ALL=0.2437;gnomAD_genome_AFR=0.3504;gnomAD_genome_AMR=0.1966;gnomAD_genome_ASJ=0.2318;gnomAD_genome_EAS=0.1771;gnomAD_genome_FIN=0.2217;gnomAD_genome_NFE=0.1978;gnomAD_genome_OTH=0.2229;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 1/1:-1680.86,-145.084,0:695:22:657:20229:707 . 0/1:-660.669,0,-655.784:642:313:317:9984:9851 . . 0/1:-746.538,0,-909.753:798:414:366:11530:13297 0/1:-630.821,0,-645.115:616:302:304:9367:9618 0/1:-577.958,0,-780.091:659:347:289:8903:11283 . . . 0/1:-845.897,0,-955.16:874:450:408:12783:14129 0/1:-580.011,0,-453.339:518:222:284:8648:7088 . . 0/1:-414.789,0,-418.819:404:197:201:6341:6207 . . 0/1:-452.972,0,-370.513:399:177:215:6700:5647 0/1:-749.238,0,-833.592:765:392:363:11422:12465 0/1:-728.495,0,-949.676:830:438:376:11329:13736 0/1:-448.161,0,-513.301:493:244:236:6939:7672 . 0/1:-944.501,0,-859.123:883:414:455:13915:13150 . 0/1:-433.042,0,-494.716:434:221:206:6482:7162 1/1:-1561.84,-156.588,0:612:9:596:18523:289 . . 0/1:-96.2439,0,-166.011:135:80:53:1589:2449 . . . . 0/1:-748.531,0,-722.667:710:338:357:11183:10869 0/1:-217.484,0,-212.78:211:101:109:3249:3282 0/1:-725.605,0,-880.99:806:416:375:11310:13030 . . . . . 0/1:-673.712,0,-698.857:659:325:321:10213:10359 . 0/1:-530.628,0,-593.522:528:275:245:7957:8694 . . . . . 0/1:-560.025,0,-624.307:589:301:282:8664:9292 . 0/1:-669.436,0,-736.317:686:347:329:10141:10902 . 0/1:-554.96,0,-547.49:562:273:275:8418:8279 . . . . . . 0/1:-595.325,0,-803.626:684:372:298:9322:11612 . 0/1:-699.816,0,-723.442:692:340:342:10573:10761 . 0/1:-740.319,0,-725.19:716:339:359:11113:10790 0/1:-676.64,0,-733.14:692:351:329:10174:10927 0/1:-754.324,0,-683.807:711:326:374:11315:10390 . . 1/1:-1764.66,-192.186,0:676:3:666:20793:104 1/1:-2114.58,-217.958,0:837:11:811:25002:362 0/1:-680.227,0,-719.163:692:337:339:10344:10782 . 0/1:-526.22,0,-469.84:492:223:255:7924:7090 . . 0/1:-714.258,0,-702.91:678:320:343:10626:10498 . 0/1:-653.68,0,-642.174:621:301:312:9947:9675 . . . 1/1:-1902.88,-170.968,0:788:21:749:22890:695 0/1:-458.826,0,-522.141:492:247:229:7024:7824 . . 0/1:-577.438,0,-633.813:612:303:293:8882:9558 . 0/1:-619.502,0,-571.67:590:271:310:9309:8671 0/1:-763.085,0,-838.197:786:394:379:11575:12673 . . . . 0/1:-328.715,0,-317.584:309:152:153:4931:4773:152,153 . . 0/1:-395.159,0,-517.008:426:230:193:6010:7397:230,193 . . . 0/1:-510.817,0,-519.667:487:239:242:7677:7726:239,242 . . . . 0/1:-504.927,0,-570.319:503:252:243:7547:8367:252,243 . . 1/1:-1269.84,-133.342,0:470:2:461:14749:68:2,461 . chr7 81600060 . C G 5103.71 . AB=0.454386;ABP=13.3115;AC=1;AF=0.5;AN=2;AO=259;CIGAR=1X;DP=570;DPB=570;DPRA=0;EPP=88.5361;EPPR=68.4099;GTI=0;LEN=1;MEANALT=2;MQM=41.2857;MQMR=41.1242;NS=1;NUMALT=1;ODDS=1175.17;PAIRED=0.984556;PAIREDR=0.96732;PAO=0;PQA=0;PQR=0;PRO=0;QA=7981;QR=9744;RO=306;RPL=124;RPP=4.02477;RPPR=25.2643;RPR=135;RUN=1;SAF=161;SAP=36.2866;SAR=98;SF=1;SRF=182;SRP=26.8823;SRR=124;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7370;dpsi_zscore=1.878;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-529.329,0,-680.116:570:306:259:7981:9744:306,259 . . . . chr7 81600125 . T C 3566.21 . AB=0.483607;ABP=3.86465;AC=1;AF=0.5;AN=2;AO=177;CIGAR=1X;DP=366;DPB=366;DPRA=0;EPP=3.31701;EPPR=17.5461;GTI=0;LEN=1;MEANALT=3;MQM=40.5593;MQMR=40.6175;NS=1;NUMALT=1;ODDS=821.151;PAIRED=0.954802;PAIREDR=0.939891;PAO=0;PQA=0;PQR=0;PRO=0;QA=5564;QR=5907;RO=183;RPL=120;RPP=51.7028;RPPR=22.957;RPR=57;RUN=1;SAF=62;SAP=37.4717;SAR=115;SF=1;SRF=75;SRP=15.9323;SRR=108;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00159744;avsnp147=rs563872894;Kaviar_AF=0.0006531;Kaviar_AC=17;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0942;dpsi_zscore=-0.431;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=6.479e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-372.145,0,-401.925:366:183:177:5564:5907:183,177 . . . . . . . . . . . . . . . . . . chr7 81603841 . C T 8462.68 . AB=0.511478;ABP=4.25655;AC=1;AF=0.5;AN=2;AO=557;CIGAR=1X;DP=1089;DPB=1089;DPRA=0;EPP=562.997;EPPR=324.339;GTI=0;LEN=1;MEANALT=3;MQM=36.1436;MQMR=39.3395;NS=1;NUMALT=1;ODDS=1678.93;PAIRED=0.965889;PAIREDR=0.965235;PAO=0;PQA=0;PQR=0;PRO=0;QA=15007;QR=12937;RO=489;RPL=342;RPP=65.8894;RPPR=151.723;RPR=215;RUN=1;SAF=353;SAP=89.5612;SAR=204;SF=0;SRF=322;SRP=109.697;SRR=167;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon25:c.G1983A:p.S661S;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0020;1000g2015aug_all=0.000399361;avsnp147=rs75158917;Kaviar_AF=0.0015977;Kaviar_AC=247;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0009;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0016;ExAC_NFE=0.0034;ExAC_OTH=0.0027;ExAC_SAS=0.0003;CLNALLELEID=240181;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3244;dpsi_zscore=-0.888;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0023;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0033;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0012;gnomAD_genome_NFE=0.0058;gnomAD_genome_OTH=0.0021;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-931.594,0,-797.996:1089:489:557:15007:12937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 81603871 . GAAAAAAAAAC GAAAAAAAAAAAC 2413.47 . AB=0;ABP=0;AC=8;AF=1;AN=8;AO=157;CIGAR=1M2I10M;DP=1655;DPB=428.455;DPRA=0;EPP=33.5631;EPPR=3.17734;GTI=0;LEN=2;MEANALT=46;MQM=32.4522;MQMR=38.8462;NS=1;NUMALT=1;ODDS=170.657;PAIRED=0.923567;PAIREDR=0.923077;PAO=17;PQA=311.5;PQR=311.5;PRO=17;QA=2813;QR=398;RO=13;RPL=128;RPP=138.568;RPPR=7.18621;RPR=29;RUN=1;SAF=72;SAP=5.34774;SAR=85;SF=0;SRF=7;SRP=3.17734;SRR=6;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0893;esp6500siv2_ea=0.0922;esp6500siv2_all=0.0893;esp6500siv2_ea=0.0922;1000g2015aug_all=0.096845;avsnp147=rs141806359;Kaviar_AF=0.0019922;Kaviar_AC=308;Kaviar_AN=154602;ExAC_ALL=0.1063;ExAC_AFR=0.1041;ExAC_AMR=0.1505;ExAC_EAS=0.1427;ExAC_FIN=0.0482;ExAC_NFE=0.1140;ExAC_OTH=0.1113;ExAC_SAS=0.0680;CLNALLELEID=212616;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0879;gnomAD_exome_AFR=0.0928;gnomAD_exome_AMR=0.1173;gnomAD_exome_ASJ=0.0987;gnomAD_exome_EAS=0.1141;gnomAD_exome_FIN=0.0416;gnomAD_exome_NFE=0.0903;gnomAD_exome_OTH=0.1044;gnomAD_exome_SAS=0.0593;gnomAD_genome_ALL=0.0884;gnomAD_genome_AFR=0.0994;gnomAD_genome_AMR=0.1047;gnomAD_genome_ASJ=0.1096;gnomAD_genome_EAS=0.1253;gnomAD_genome_FIN=0.0479;gnomAD_genome_NFE=0.0838;gnomAD_genome_OTH=0.0857;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . 1/1:-208.658,-37.5207,0:362:13:157:2813:398 . . . . . . . . . . . . . . . . . . . . . . 1/1:-326.795,-80.1603,0:517:11:222:4081:324 . . 1/1:-240.346,-69.3934,0:364:4:154:2858:116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-266.46,-54.1109,0:412:9:177:3308:259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 81620630 . C T 4856.18 . AB=0.485765;ABP=3.99944;AC=1;AF=0.5;AN=2;AO=273;CIGAR=1X;DP=562;DPB=562;DPRA=0;EPP=16.3812;EPPR=12.3768;GTI=0;LEN=1;MEANALT=3;MQM=40.5641;MQMR=41.1119;NS=1;NUMALT=1;ODDS=994.947;PAIRED=0.978022;PAIREDR=0.988806;PAO=0;PQA=0;PQR=0;PRO=0;QA=7934;QR=7338;RO=268;RPL=231;RPP=287.139;RPPR=360.331;RPR=42;RUN=1;SAF=129;SAP=4.79998;SAR=144;SF=0;SRF=150;SRP=11.3073;SRR=118;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7506;dpsi_zscore=1.351;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . 0/1:-525.696,0,-481.853:562:268:273:7934:7338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 81626637 . C T,A 186.98 . AB=0;ABP=0;AC=1,0;AF=0;AN=10;AO=3;CIGAR=1X;DP=240;DPB=48;DPRA=0;EPP=9.52472;EPPR=3.05855;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40.7111;NS=1;NUMALT=1;ODDS=50.2804;PAIRED=1;PAIREDR=0.955556;PAO=0;PQA=0;PQR=0;PRO=0;QA=71;QR=1360;RO=45;RPL=1;RPP=3.73412;RPPR=20.4303;RPR=2;RUN=1;SAF=1;SAP=3.73412;SAR=2;SF=1;SRF=16;SRP=11.1654;SRR=29;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0291534;avsnp147=rs37108;Kaviar_AF=0.0015782;Kaviar_AC=244;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3649;dpsi_zscore=-0.941;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0238;gnomAD_genome_AFR=0.0723;gnomAD_genome_AMR=0.0077;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0192;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0103;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3725;dpsi_zscore=-0.950;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,.,.,-7.86998,.,-112.481:48:45:.,3:.,71:1360:45,3 0/0:0,.,.,-7.14415,.,-100.981:42:38:.,3:.,58:1237:38,3 0/1:-45.4801,0,-55.6473,.,.,.:50:25:24,.:708,.:796:25,24 . . . 0/0:0,.,.,-12.5461,.,-136.081:56:51:.,3:.,42:1616:51,3 . . . . . . . . . . 0/0:0,.,.,-8.76908,.,-102.326:44:41:.,3:.,48:1229:41,3 chr7 81634821 . AGAAAAAAAAAAAAAAGCTT ATAAAAAAAAAAAAAAGCTT,AGAAAAAAAAAAAAAGCTT,ACAAAAAAAAAAAAAAGCTT,ATAAAAAAAAAAAAAGCTT,AGAAAAAAAAAAAAAAGATT 52.33 . 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GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/2:-32.8432,.,.,0,.,-123.969,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:549:66:.,37,.,.,.:.,829,.,.,.:2022:66,37 0/1:-16.9383,0,-48.6974,-9.42133,-45.4766,-66.8757,-25.3869,-52.0301,-70.8625,-82.5116,.,.,.,.,.,.,.,.,.,.,.:341:37:49,20,21,.,.:679,460,289,.,.:1118:37,20,21,49 . . 0/1:-38.0717,0,-151.474,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:506:70:82,.,.,.,.:1163,.,.,.,.:2089:70,82 0/1:-26.5221,0,-124.835,.,.,.,-40.84,-137.65,.,-180.123,-41.7402,-138.55,.,-179.388,-182.227,.,.,.,.,.,.:518:57:81,.,33,29,.:1122,.,451,432,.:1753:57,29,33,81 0/0:0,-0.864131,-6.15122,-10.8294,-54.9307,-59.7843,-36.6239,-24.716,-90.6895,-55.7568,-46.6284,-34.7195,-100.694,-70.4772,-69.6742,-41.5393,-86.3067,-96.2707,-122.065,-132.069,-86.7708:502:53:85,36,39,26,28:1138,827,534,382,450:1628:53,26,36,28,39,85 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0/0:0,-2.79689,-35.6387,-20.5409,-83.5097,-88.8386,-30.9088,-49.0899,-111.621,-73.3825,-36.7011,-54.8816,-117.413,-82.9922,-82.4858,-27.3463,-90.9802,-108.723,-119.091,-124.883,-94.1474:560:60:76,35,44,33,30:1025,652,577,472,573:1788:60,33,35,30,44,76 . 0/1:-20.4452,0,-36.0447,-20.7661,-58.3927,-85.1575,-34.6035,-38.4645,-92.995,-80.8815,.,.,.,.,.,-23.2842,-60.9112,-81.676,-95.5132,.,-85.8693:427:49:64,28,30,.,34:938,575,419,.,561:1488:49,28,34,30,64 chr7 81634822 . GAAAAAAAAAAAAAAGCTT TAAAAAAAAAAAAAAGCTT,GAAAAAAAAAAAAAGCTT 216.59 . AB=0.342199;ABP=124.998;AC=88,3;AF=0.5;AN=182;AO=193;CIGAR=1X;DP=44935;DPB=564;DPRA=0;EPP=151.807;EPPR=119.478;GTI=0;LEN=1;MEANALT=3;MQM=29.4456;MQMR=30.027;NS=1;NUMALT=1;ODDS=32.5943;PAIRED=0.968912;PAIREDR=0.949324;PAO=0;PQA=0;PQR=0;PRO=0;QA=3076;QR=8003;RO=296;RPL=51;RPP=96.1811;RPPR=95.0338;RPR=142;RUN=1;SAF=12;SAP=324.354;SAR=181;SF=0,1;SRF=247;SRP=290.613;SRR=49;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-8.6459;dpsi_zscore=-2.834;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.20028;avsnp147=rs576139922;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.2993;ExAC_AFR=0.2534;ExAC_AMR=0.2267;ExAC_EAS=0.2675;ExAC_FIN=0.2122;ExAC_NFE=0.3124;ExAC_OTH=0.2889;ExAC_SAS=0.3305;CLNALLELEID=396450;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2651;gnomAD_exome_AFR=0.2645;gnomAD_exome_AMR=0.3335;gnomAD_exome_ASJ=0.2879;gnomAD_exome_EAS=0.3205;gnomAD_exome_FIN=0.1646;gnomAD_exome_NFE=0.2613;gnomAD_exome_OTH=0.2859;gnomAD_exome_SAS=0.2611;gnomAD_genome_ALL=0.0534;gnomAD_genome_AFR=0.0591;gnomAD_genome_AMR=0.0690;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.1211;gnomAD_genome_NFE=0.0468;gnomAD_genome_OTH=0.0478;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-425.053,.,.,.:564:296:193,.:3076,.:8003 0/1:.,.,-418.99,.,.,.:550:295:202,.:3363,.:7673 0/1:.,.,-423.153,.,.,.:622:306:240,.:3886,.:8235 0/1:.,.,-211.572,.,.,.:350:151:143,.:2456,.:4265 0/1:.,.,-322.138,.,.,.:498:240:193,.:3299,.:6563 0/1:.,.,-310.294,.,.,.:502:242:196,.:3261,.:6410 0/1:.,.,-299.5,.,.,.:459:219:164,.:2580,.:5754 0/1:.,.,-282.908,.,.,.:469:219:188,.:3010,.:5767 0/1:.,.,-304.707,.,.,.:458:221:174,.:2809,.:5958 0/1:.,.,-366.993,.,.,.:577:278:241,.:3939,.:7680 0/1:.,.,-290.392,.,.,.:448:221:162,.:2626,.:5878 0/1:.,.,-334.958,.,.,.:528:246:191,.:3144,.:6588 . 0/1:.,.,-240,.,.,.:450:203:181,.:3013,.:5449 . 0/1:.,.,-373.844,.,.,.:613:293:254,.:4207,.:7690 0/1:.,.,-226.396,.,.,.:417:189:164,.:2860,.:5076 0/1:.,.,-553.229,.,.,.:859:389:349,.:5838,.:10625 0/1:.,.,-349.426,.,.,.:599:282:233,.:3883,.:7310 0/1:.,.,-214.478,.,.,.:350:165:133,.:2225,.:4412 . 0/1:.,.,-408.701,.,.,.:605:294:217,.:3651,.:8029 0/1:.,.,-221.658,.,.,.:351:178:116,.:1864,.:4565 0/1:.,.,-294.332,.,.,.:492:241:183,.:2871,.:6271 0/1:.,.,-357.503,.,.,.:572:266:221,.:3696,.:7082 0/1:.,.,-272.155,.,.,.:443:210:159,.:2762,.:5412 0/1:.,.,-280.912,.,.,.:459:214:185,.:3083,.:5887 0/1:.,.,-418.38,.,.,.:627:294:250,.:4049,.:8305 0/1:.,.,-249.949,.,.,.:400:196:154,.:2549,.:5144 0/1:.,.,-220.28,.,.,.:357:162:131,.:2193,.:4345 0/1:.,.,-347.307,.,.,.:558:262:207,.:3232,.:6940 0/1:.,.,-398.769,.,.,.:661:307:242,.:3985,.:8322 0/2:.,.,.,.,.,-50.3575:589:64:.,132:.,2621:1892 0/1:.,.,-177.774,.,.,.:241:128:85,.:1479,.:3357 0/1:.,.,-313.609,.,.,.:495:246:197,.:3220,.:6740 0/1:.,.,-341.784,.,.,.:552:262:209,.:3317,.:6942 0/1:.,.,-178.376,.,.,.:241:122:94,.:1542,.:3338 0/1:.,.,-371.267,.,.,.:555:270:206,.:3407,.:7336 0/1:.,.,-343.428,.,.,.:545:257:202,.:3360,.:7152 0/1:.,.,-177.678,.,.,.:226:114:88,.:1425,.:3229 0/1:.,.,-399.252,.,.,.:579:287:229,.:3746,.:7963 0/1:.,.,-330.982,.,.,.:457:228:159,.:2661,.:6507 0/1:.,.,-360.706,.,.,.:515:257:191,.:3131,.:7066 0/1:.,.,-268.906,.,.,.:488:217:193,.:3164,.:5922 0/1:.,.,-435.133,.,.,.:652:327:237,.:3874,.:8609 0/1:.,.,-305.477,.,.,.:516:240:206,.:3362,.:6452 0/1:.,.,-282.199,.,.,.:452:210:192,.:3021,.:5666 0/1:.,.,-170.655,.,.,.:286:125:119,.:1942,.:3439 0/1:.,.,-311.574,.,.,.:463:238:169,.:2918,.:6300 0/1:.,.,-331.471,.,.,.:516:240:203,.:3278,.:6540 0/1:.,.,-286.194,.,.,.:500:231:193,.:3091,.:5965 0/1:.,.,-314.895,.,.,.:514:243:196,.:3130,.:6654 0/1:.,.,-399.053,.,.,.:605:303:216,.:3478,.:8043 0/1:.,.,-261.632,.,.,.:462:199:188,.:3094,.:5338 0/1:.,.,-258.458,.,.,.:427:203:161,.:2593,.:5397 0/1:.,.,-328.765,.,.,.:421:216:154,.:2433,.:6110 0/1:.,.,-313.853,.,.,.:470:230:180,.:2993,.:6222 0/1:.,.,-213.397,.,.,.:344:169:128,.:2077,.:4626 0/1:.,.,-221.319,.,.,.:372:160:155,.:2529,.:4429 . 0/1:.,.,-283.085,.,.,.:398:195:142,.:2338,.:5260 0/1:.,.,-371.682,.,.,.:517:256:179,.:2929,.:7053 0/1:.,.,-241.042,.,.,.:379:180:144,.:2241,.:4827 . 0/1:.,.,-352.231,.,.,.:595:290:233,.:3855,.:7914 . 0/1:.,.,-264.646,.,.,.:413:214:144,.:2260,.:5547 0/1:.,.,-402.442,.,.,.:547:273:208,.:3311,.:7757 . 0/1:.,.,-385.588,.,.,.:633:291:257,.:4330,.:8078 0/1:.,.,-312.104,.,.,.:462:226:172,.:2724,.:6177 0/1:.,.,-269.097,.,.,.:441:215:175,.:2899,.:5525 0/1:.,.,-405.299,.,.,.:515:268:179,.:3019,.:7498 0/1:.,.,-176.839,.,.,.:328:150:119,.:2022,.:3741 0/1:.,.,-349.931,.,.,.:446:237:153,.:2489,.:6536 0/1:.,.,-373.127,.,.,.:552:270:198,.:3226,.:7203 0/1:.,.,-310.127,.,.,.:508:233:215,.:3497,.:6420 0/1:.,.,-383.503,.,.,.:502:256:178,.:2948,.:7206 0/1:.,.,-258.472,.,.,.:404:202:147,.:2326,.:5353 0/1:.,.,-273.205,.,.,.:380:196:133,.:2129,.:5345 . 0/1:.,.,-328.186,.,.,.:519:256:196,.:3248,.:6816 0/1:.,.,-370.756,.,.,.:574:273:217,.:3535,.:7429 . 0/1:.,.,-342.679,.,.,.:484:241:173,.:2724,.:6665 . 0/1:.,.,-280.066,.,.,.:450:204:167,.:2658,.:5313 0/1:.,.,-363.117,.,.,.:568:269:218,.:3494,.:7395 . 0/1:.,.,-353.697,.,.,.:586:284:216,.:3456,.:7578 0/1:.,.,-459.495,.,.,.:684:342:248,.:4101,.:9518 0/1:.,.,-354.703,.,.,.:495:245:174,.:2912,.:6488 0/1:.,.,-304.804,.,.,.:478:225:174,.:2868,.:6003 . 0/1:.,.,-412.595,.,.,.:598:299:220,.:3617,.:8096 . 0/1:-53.0175,0,-50.3531,.,.,.:423:48:87,.:1267,.:1421:48,87 0/1:-59.4253,0,-35.082,.,.,.:511:50:105,.:1448,.:1524:50,105 . . 0/1:-64.3634,0,-39.2811,.,.,.:496:66:119,.:1679,.:1961:66,119 0/2:-23.2097,.,.,0,.,-119.381:670:85:.,56:.,1164:2551:85,56 . . . . 0/1:-56.9733,0,-59.2242,.,.,.:552:71:117,.:1658,.:2157:71,117 . . . 0/1:-46.2063,0,-64.6649,.,.,.:481:65:90,.:1275,.:1925:65,90 0/2:-16.5715,.,.,0,.,-89.0689:524:62:.,34:.,777:1787:62,34 . . 0/1:-55.4026,0,-107.543,.,.,.:501:76:97,.:1368,.:2271:76,97 . chr7 81635170 . CAAAAAATG CAAAAATG 1530.04 . AB=0.37594;ABP=38.5702;AC=1;AF=0.5;AN=2;AO=100;CIGAR=1M1D7M;DP=266;DPB=253.667;DPRA=0;EPP=7.26639;EPPR=7.89611;GTI=0;LEN=1;MEANALT=17;MQM=39.7;MQMR=40.3681;NS=1;NUMALT=1;ODDS=352.304;PAIRED=0.95;PAIREDR=0.958333;PAO=0;PQA=0;PQR=0;PRO=0;QA=2727;QR=4601;RO=144;RPL=29;RPP=41.3151;RPPR=22.5536;RPR=71;RUN=1;SAF=46;SAP=4.40004;SAR=54;SF=1;SRF=67;SRP=4.51827;SRR=77;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0256;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0256;esp6500siv2_ea=0.0013;1000g2015aug_all=0.0289537;avsnp147=rs199645602;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0102;ExAC_AFR=0.0778;ExAC_AMR=0.0048;ExAC_EAS=0.0151;ExAC_FIN=0.0089;ExAC_NFE=0.0020;ExAC_OTH=0.0155;ExAC_SAS=0.0017;CLNALLELEID=502203;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0086;gnomAD_exome_AFR=0.0785;gnomAD_exome_AMR=0.0051;gnomAD_exome_ASJ=0.0065;gnomAD_exome_EAS=0.0132;gnomAD_exome_FIN=0.0098;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0059;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0241;gnomAD_genome_AFR=0.0730;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0204;gnomAD_genome_FIN=0.0083;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0104;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-165.789,0,-325.236:266:144:100:2727:4601:144,100 . . . . . . . . . . . . . . . chr7 81641500 . G A 1951.12 . AB=0.392857;ABP=44.8887;AC=2;AF=0.5;AN=4;AO=165;CIGAR=1X;DP=702;DPB=420;DPRA=0;EPP=81.0385;EPPR=90.5697;GTI=0;LEN=1;MEANALT=2;MQM=33.3818;MQMR=34.3548;NS=1;NUMALT=1;ODDS=410.417;PAIRED=0.939394;PAIREDR=0.96371;PAO=0;PQA=0;PQR=0;PRO=0;QA=4437;QR=7444;RO=248;RPL=63;RPP=23.0273;RPPR=64.7922;RPR=102;RUN=1;SAF=132;SAP=131.996;SAR=33;SF=0,1;SRF=186;SRP=137.642;SRR=62;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon15:c.C1332T:p.V444V;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0083;1000g2015aug_all=0.00319489;avsnp147=rs73151504;Kaviar_AF=0.0084863;Kaviar_AC=1312;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0013;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0176;ExAC_NFE=0.0122;ExAC_OTH=0.0133;ExAC_SAS=0.0046;CLNALLELEID=240182;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3630;dpsi_zscore=0.976;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0079;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0.0184;gnomAD_exome_NFE=0.0109;gnomAD_exome_OTH=0.0119;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0097;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0179;gnomAD_genome_NFE=0.0135;gnomAD_genome_OTH=0.0165;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-212.693,0,-455.228:420:248:165:4437:7444 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-290.033,0,-218.645:282:129:145:4568:3931:129,145 . . . . . . . . . . . . . . . . . . chr7 81641553 . A G 1852.74 . AB=0.434343;ABP=14.1309;AC=1;AF=0.5;AN=2;AO=129;CIGAR=1X;DP=297;DPB=297;DPRA=0;EPP=21.3416;EPPR=46.9826;GTI=0;LEN=1;MEANALT=3;MQM=35.4806;MQMR=34.5347;NS=1;NUMALT=1;ODDS=426.61;PAIRED=0.945736;PAIREDR=0.923611;PAO=0;PQA=0;PQR=0;PRO=0;QA=3590;QR=4529;RO=144;RPL=77;RPP=13.531;RPPR=5.96592;RPR=52;RUN=1;SAF=99;SAP=83.1528;SAR=30;SF=1;SRF=102;SRP=57.2971;SRR=42;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon15:c.T1279C:p.L427L;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0006;1000g2015aug_all=0.0223642;avsnp147=rs37133;Kaviar_AF=0.0069339;Kaviar_AC=1072;Kaviar_AN=154602;ExAC_ALL=0.0072;ExAC_AFR=0.0729;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0089;ExAC_SAS=0.0014;CLNALLELEID=371391;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3880;dpsi_zscore=1.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0058;gnomAD_exome_AFR=0.0724;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0198;gnomAD_genome_AFR=0.0687;gnomAD_genome_AMR=0.0085;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0062;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-203.497,0,-263.107:297:144:129:3590:4529:144,129 . . . . . . . . . . . . . . . chr7 81641570 . GAAAAAAAAAAAAAGTCG GAAAAAAAAAAAAGTCG,TAAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAGTCG 87.87 . AB=0.106557;ABP=331.081;AC=12,2,2,0,0;AF=0.5;AN=36;AO=26;CIGAR=1M1D16M;DP=4937;DPB=249;DPRA=0;EPP=6.01695;EPPR=6.93191;GTI=0;LEN=1;MEANALT=86;MQM=39;MQMR=38.8955;NS=1;NUMALT=1;ODDS=2.69596;PAIRED=0.961538;PAIREDR=0.940299;PAO=9;PQA=237.5;PQR=237.5;PRO=9;QA=570;QR=2027;RO=67;RPL=14;RPP=3.34437;RPPR=5.63551;RPR=12;RUN=1;SAF=16;SAP=6.01695;SAR=10;SF=1;SRF=34;SRP=3.04271;SRR=33;TYPE=del;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs776219864;Kaviar_AF=0.0004657;Kaviar_AC=72;Kaviar_AN=154602;ExAC_ALL=0.2656;ExAC_AFR=0.1920;ExAC_AMR=0.2410;ExAC_EAS=0.2348;ExAC_FIN=0.3093;ExAC_NFE=0.2820;ExAC_OTH=0.25;ExAC_SAS=0.2599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2284;gnomAD_exome_AFR=0.1542;gnomAD_exome_AMR=0.1942;gnomAD_exome_ASJ=0.1974;gnomAD_exome_EAS=0.1832;gnomAD_exome_FIN=0.2738;gnomAD_exome_NFE=0.2500;gnomAD_exome_OTH=0.2135;gnomAD_exome_SAS=0.2376;gnomAD_genome_ALL=0.0064;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0188;gnomAD_genome_ASJ=0.0081;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0559;gnomAD_genome_NFE=0.0052;gnomAD_genome_OTH=0.0114;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.221046;avsnp147=rs4019047;Kaviar_AF=0.0020246;Kaviar_AC=313;Kaviar_AN=154602;ExAC_ALL=0.1268;ExAC_AFR=0.1382;ExAC_AMR=0.1401;ExAC_EAS=0.1286;ExAC_FIN=0.0888;ExAC_NFE=0.1156;ExAC_OTH=0.1432;ExAC_SAS=0.1668;CLNALLELEID=502207;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1608;gnomAD_exome_AFR=0.1728;gnomAD_exome_AMR=0.1991;gnomAD_exome_ASJ=0.2248;gnomAD_exome_EAS=0.1909;gnomAD_exome_FIN=0.1192;gnomAD_exome_NFE=0.1431;gnomAD_exome_OTH=0.1779;gnomAD_exome_SAS=0.1647;gnomAD_genome_ALL=0.2673;gnomAD_genome_AFR=0.2887;gnomAD_genome_AMR=0.3054;gnomAD_genome_ASJ=0.3415;gnomAD_genome_EAS=0.3388;gnomAD_genome_FIN=0.1946;gnomAD_genome_NFE=0.2453;gnomAD_genome_OTH=0.2938;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs72239441;Kaviar_AF=0.0004398;Kaviar_AC=68;Kaviar_AN=154602;ExAC_ALL=0.0112;ExAC_AFR=0.0145;ExAC_AMR=0.0125;ExAC_EAS=0.0098;ExAC_FIN=0.0042;ExAC_NFE=0.0108;ExAC_OTH=0.0176;ExAC_SAS=0.0134;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0277;gnomAD_exome_AFR=0.0245;gnomAD_exome_AMR=0.0342;gnomAD_exome_ASJ=0.0218;gnomAD_exome_EAS=0.0334;gnomAD_exome_FIN=0.0256;gnomAD_exome_NFE=0.0247;gnomAD_exome_OTH=0.0359;gnomAD_exome_SAS=0.0321;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0041;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0128;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0049;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-11.3159,0,-131.415,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:244:67:26,.,.,.,.:570,.,.,.,.:2027:67,26 . 0/0:0,-7.51062,-119.573,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:312:59:17,.,.,.,.:357,.,.,.,.:1769:59,17 0/0:0,-1.6188,-39.1364,.,.,.,-2.55851,-37.482,.,-39.4736,-0.319222,-35.2431,.,-36.1825,-38.4394,.,.,.,.,.,.:109:21:7,.,6,5,.:135,.,92,139,.:640:21,7,5,6 0/1:-15.68,0,-167.223,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:281:85:29,.,.,.,.:689,.,.,.,.:2600:85,29 0/1:-34.9499,0,-240.715,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:432:118:52,.,.,.,.:1222,.,.,.,.:3591:118,52 0/1:-5.30586,0,-191.744,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:292:95:27,.,.,.,.:655,.,.,.,.:2909:95,27 0/1:-26.6047,0,-212.692,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:331:101:45,.,.,.,.:992,.,.,.,.:3074:101,45 2/2:-30.5552,.,.,-35.2944,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:215:6:.,13,.,.,.:.,226,.,.,.:173:6,13 0/1:-21.0628,0,-195.63,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:313:95:38,.,.,.,.:881,.,.,.,.:2905:95,38 0/1:-10.6607,0,-189.672,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:303:98:35,.,.,.,.:798,.,.,.,.:2966:98,35 0/1:-24.6518,0,-141.305,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:282:70:33,.,.,.,.:807,.,.,.,.:2132:70,33 3/3:-26.028,.,.,.,.,.,-17.4079,.,.,0,.,.,.,.,.,.,.,.,.,.,.:197:1:.,.,16,.,.:.,.,318,.,.:31:1,16 0/1:-3.34225,0,-107.724,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:300:53:22,.,.,.,.:462,.,.,.,.:1629:53,22 0/1:-10.6596,0,-101.828,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:225:48:16,.,.,.,.:424,.,.,.,.:1444:48,16 0/1:-37.1613,0,-170.871,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:321:88:44,.,.,.,.:1061,.,.,.,.:2622:88,44 0/0:0,.,.,.,.,.,-12.5562,.,.,-97.9549,.,.,.,.,.,.,.,.,.,.,.:276:52:.,.,18,.,.:.,.,299,.,.:1541:52,18 0/1:-11.3985,0,-65.4487,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:244:36:22,.,.,.,.:524,.,.,.,.:1101:36,22 . 0/0:0,-14.8617,-171.725,.,.,.,.,.,.,.,.,.,.,.,.,-21.6368,-174.401,.,.,.,-180.545:260:82:20,.,.,.,13:413,.,.,.,316:2458:82,20,13 chr7 81643813 . T C 1339.86 . AB=0.547619;ABP=5.49198;AC=1;AF=0.5;AN=2;AO=69;CIGAR=1X;DP=126;DPB=126;DPRA=0;EPP=14.3712;EPPR=13.3047;GTI=0;LEN=1;MEANALT=3;MQM=40.5507;MQMR=41.537;NS=1;NUMALT=1;ODDS=222.054;PAIRED=0.985507;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2111;QR=1632;RO=54;RPL=42;RPP=10.0912;RPPR=26.1727;RPR=27;RUN=1;SAF=19;SAP=33.2536;SAR=50;SF=0;SRF=20;SRP=10.8919;SRR=34;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0079;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0079;1000g2015aug_all=0.00359425;avsnp147=rs78174406;Kaviar_AF=0.0054656;Kaviar_AC=845;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0015;ExAC_AMR=0.0049;ExAC_EAS=0;ExAC_FIN=0.0025;ExAC_NFE=0.0073;ExAC_OTH=0.0023;ExAC_SAS=0.0026;CLNALLELEID=501835;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0159;dpsi_zscore=-0.078;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0052;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0069;gnomAD_exome_ASJ=0.0035;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0075;gnomAD_exome_OTH=0.0068;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=0.0047;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0069;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-145.507,0,-107.034:126:54:69:2111:1632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 81667468 . C T 7373.30 . AB=0.490741;ABP=3.6537;AC=11;AF=0.5;AN=22;AO=424;CIGAR=1X;DP=8496;DPB=864;DPRA=0;EPP=17.9443;EPPR=17.5441;GTI=0;LEN=1;MEANALT=3;MQM=40;MQMR=40.2005;NS=1;NUMALT=1;ODDS=1660.41;PAIRED=0.959906;PAIREDR=0.950495;PAO=0;PQA=0;PQR=0;PRO=0;QA=12660;QR=11352;RO=404;RPL=234;RPP=12.9253;RPPR=35.7114;RPR=190;RUN=1;SAF=227;SAP=7.61956;SAR=197;SF=0,1;SRF=223;SRP=12.4917;SRR=181;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon11:c.G963A:p.A321A;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0326;esp6500siv2_ea=0.0448;esp6500siv2_all=0.0326;esp6500siv2_ea=0.0448;1000g2015aug_all=0.019369;avsnp147=rs2229952;Kaviar_AF=0.0372958;Kaviar_AC=5766;Kaviar_AN=154602;ExAC_ALL=0.0385;ExAC_AFR=0.0064;ExAC_AMR=0.0227;ExAC_EAS=0.0003;ExAC_FIN=0.0693;ExAC_NFE=0.0502;ExAC_OTH=0.0507;ExAC_SAS=0.0294;CLNALLELEID=252943;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8166;dpsi_zscore=-1.356;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0378;gnomAD_exome_AFR=0.0057;gnomAD_exome_AMR=0.0208;gnomAD_exome_ASJ=0.0528;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0680;gnomAD_exome_NFE=0.0474;gnomAD_exome_OTH=0.0453;gnomAD_exome_SAS=0.0308;gnomAD_genome_ALL=0.0443;gnomAD_genome_AFR=0.0083;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0750;gnomAD_genome_NFE=0.0631;gnomAD_genome_OTH=0.0540;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-842.185,0,-734.658:864:404:424:12660:11352 . . . . . . 0/1:-754.94,0,-663.143:751:370:365:11287:10230 . . . . 0/1:-1285.23,0,-1379.85:1413:725:643:19489:20512 . . . . . . . . . . . 0/1:-549.652,0,-442.325:527:238:269:8129:6888 . . . . . . . 0/1:-937.571,0,-760.892:899:419:454:13841:11812 . . . . . . . . . . . . . . . . . 0/1:-589.203,0,-641.118:639:331:291:8946:9544 . . . . . . . . . . 0/1:-508.768,0,-463.355:539:252:271:7793:7155 . . . . . . 0/1:-555.107,0,-486.283:604:279:308:8510:7632 . . . . . . . . . . . . . . . . . . 0/1:-819.075,0,-824.576:867:435:402:12331:12320 . . . . 0/1:-686.568,0,-629.835:647:311:318:10004:9344:311,318 0/1:-728.268,0,-795.698:746:380:349:10929:11517:380,349 . . . . . . . . . . . . . . . . . chr7 81695859 . G A 566.40 . AB=0.347087;ABP=86.6858;AC=1;AF=0.5;AN=2;AO=143;CIGAR=1X;DP=412;DPB=412;DPRA=0;EPP=232.746;EPPR=26.0132;GTI=0;LEN=1;MEANALT=3;MQM=27.6503;MQMR=28.7924;NS=1;NUMALT=1;ODDS=130.418;PAIRED=0.839161;PAIREDR=0.885593;PAO=0;PQA=0;PQR=0;PRO=0;QA=2860;QR=5730;RO=236;RPL=69;RPP=3.38993;RPPR=163.331;RPR=74;RUN=1;SAF=75;SAP=3.75437;SAR=68;SF=0;SRF=81;SRP=53.3958;SRR=155;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0071885;avsnp147=rs200166451;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=3.51e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.77e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=502210;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1803;dpsi_zscore=-0.647;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0057;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0018;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0007;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0013;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-95.6785,0,-294.975:412:236:143:2860:5730 . . . . . . . . . . . . . . . . . . . . . . . . . chr7 81765996 . CAAAAAAAAAAGAACGC CAAAAAAAAAAAGAACGC,CAAAAAAAAAGAACGC,AAAAAAAAAAAGAACGC 2249.81 . AB=0.264605;ABP=423.179;AC=25,1,0;AF=0.5;AN=78;AO=231;CIGAR=1M1I11M;DP=20651;DPB=919.833;DPRA=0;EPP=22.0459;EPPR=32.3696;GTI=0;LEN=1;MEANALT=56;MQM=36.1861;MQMR=39.6111;NS=1;NUMALT=1;ODDS=602.779;PAIRED=0.974026;PAIREDR=0.967836;PAO=9;PQA=216;PQR=216;PRO=9;QA=5311;QR=10633;RO=342;RPL=108;RPP=5.12537;RPPR=21.525;RPR=123;RUN=1;SAF=140;SAP=25.5805;SAR=91;SF=0,1;SRF=171;SRP=3.0103;SRR=171;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.1157;esp6500siv2_ea=0.0985;esp6500siv2_all=0.1157;esp6500siv2_ea=0.0985;1000g2015aug_all=0.125399;avsnp147=rs142849270;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;ExAC_ALL=0.1493;ExAC_AFR=0.1927;ExAC_AMR=0.2013;ExAC_EAS=0.1933;ExAC_FIN=0.0948;ExAC_NFE=0.1348;ExAC_OTH=0.1714;ExAC_SAS=0.1385;CLNALLELEID=212618;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1350;gnomAD_exome_AFR=0.1977;gnomAD_exome_AMR=0.1991;gnomAD_exome_ASJ=0.1556;gnomAD_exome_EAS=0.1699;gnomAD_exome_FIN=0.0999;gnomAD_exome_NFE=0.1094;gnomAD_exome_OTH=0.1469;gnomAD_exome_SAS=0.1188;gnomAD_genome_ALL=0.1115;gnomAD_genome_AFR=0.1630;gnomAD_genome_AMR=0.1362;gnomAD_genome_ASJ=0.1145;gnomAD_genome_EAS=0.11;gnomAD_genome_FIN=0.1060;gnomAD_genome_NFE=0.0809;gnomAD_genome_OTH=0.0876;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0304;esp6500siv2_ea=0.0327;esp6500siv2_all=0.0304;esp6500siv2_ea=0.0327;1000g2015aug_all=.;avsnp147=rs768286045;Kaviar_AF=0.00978;Kaviar_AC=1512;Kaviar_AN=154602;ExAC_ALL=0.0313;ExAC_AFR=0.0166;ExAC_AMR=0.0277;ExAC_EAS=0.0302;ExAC_FIN=0.0079;ExAC_NFE=0.0411;ExAC_OTH=0.0371;ExAC_SAS=0.0238;CLNALLELEID=221742;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0125;gnomAD_exome_AFR=0.0072;gnomAD_exome_AMR=0.0128;gnomAD_exome_ASJ=0.0084;gnomAD_exome_EAS=0.0120;gnomAD_exome_FIN=0.0139;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0166;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs748401138;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0.0015;ExAC_FIN=0;ExAC_NFE=5.453e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0840;dpsi_zscore=-0.398;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0.0016;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0016;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0004;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0043;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:.,.,-726.376,.,.,.,.,.,.,.:873:342:231,.,.:5311,.,.:10633 0/1:.,.,-671.378,.,.,.,.,.,.,.:840:312:236,.,.:5562,.,.:9733 . . 0/1:.,.,-667.904,.,.,.,.,.,.,.:795:305:184,.,.:4519,.,.:9532 0/1:.,.,-599.418,.,.,.,.,.,.,.:746:284:198,.,.:4485,.,.:8780 . 0/1:.,.,-502.97,.,.,.,.,.,.,.:649:238:172,.,.:3862,.,.:7388 . . . 0/1:.,.,-588.338,.,.,.,.,.,.,.:728:277:189,.,.:4064,.,.:8655 . . . 0/1:.,.,-839.949,.,.,.,.,.,.,.:972:381:248,.,.:5810,.,.:11948 . . . . . . 0/1:.,.,-863.69,.,.,.,.,.,.,.:949:391:250,.,.:5676,.,.:12235 0/1:.,.,-768.378,.,.,.,.,.,.,.:916:354:254,.,.:5689,.,.:11140 . . 0/1:.,.,-938.86,.,.,.,.,.,.,.:1068:432:256,.,.:5824,.,.:13388 . 0/1:.,.,-847.338,.,.,.,.,.,.,.:965:388:263,.,.:6244,.,.:12138 . . . . . 0/1:.,.,-653.183,.,.,.,.,.,.,.:805:296:216,.,.:5095,.,.:9427 . . . 0/1:.,.,-375.942,.,.,.,.,.,.,.:445:176:130,.,.:3131,.,.:5400 . 0/1:.,.,-699.19,.,.,.,.,.,.,.:845:329:243,.,.:5772,.,.:10074 0/1:.,.,-693.466,.,.,.,.,.,.,.:803:321:221,.,.:5098,.,.:10082 . . . . 0/1:.,.,-57.9374,.,.,.,.,.,.,.:679:66:315,.,.:7415,.,.:2075 . . . . 0/1:.,.,-583.72,.,.,.,.,.,.,.:711:271:174,.,.:4028,.,.:8448 0/1:.,.,-851.97,.,.,.,.,.,.,.:1019:400:266,.,.:6167,.,.:12296 0/1:.,.,-533.398,.,.,.,.,.,.,.:699:254:192,.,.:4443,.,.:7844 . . 0/1:.,.,-692.407,.,.,.,.,.,.,.:819:320:246,.,.:5550,.,.:10007 . . . . . . . . . . . . . . . . 0/1:.,.,-726.907,.,.,.,.,.,.,.:928:347:251,.,.:5851,.,.:10673 . . . . . . . . . . . . . 0/0:.,.,.,.,.,.,.,.,.,-469.84:212:197:.,.,15:.,.,300:5727:197,15 0/0:0,-15.3758,-360.193,.,.,.,-26.9474,-349.215,.,-372.658:220:141:15,.,12:363,.,213:4479:141,15,12 0/0:0,-21.7479,-341.974,.,.,.,-14.3782,-320.236,.,-331.831:213:131:11,.,19:246,.,336:4127:131,11,19 0/1:-44.1066,0,-109.679,.,.,.,.,.,.,.:140:49:34,.,.:820,.,.:1557:49,34 0/0:0,.,.,.,.,.,-28.8954,.,.,-385.707:220:144:.,.,12:.,.,212:4599:144,12 0/0:.,.,.,.,.,.,.,.,.,-537.166:241:227:.,.,14:.,.,279:6557:227,14 0/0:0,.,.,.,.,.,-17.9807,.,.,-280.959:165:106:.,.,11:.,.,198:3432:106,11 0/1:-40.4447,0,-174.718,.,.,.,.,.,.,.:207:76:41,.,.:934,.,.:2440:76,41 . 0/0:.,.,.,.,.,.,.,.,.,-324.285:149:138:.,.,11:.,.,239:4049:138,11 0/0:0,-6.32932,-308.716,.,.,.,-20.4883,-295.493,.,-322.077:214:126:15,.,14:437,.,264:4000:126,15,14 0/0:0,.,.,.,.,.,-17.0392,.,.,-275.708:165:104:.,.,13:.,.,224:3232:104,13 . 0/0:.,.,.,.,.,.,.,.,.,-354.976:180:157:.,.,22:.,.,462:4492:157,22 0/0:0,.,.,-1.49338,.,-250.361,-16.2691,.,-239.543,-266.197:170:102:.,13,9:.,395,209:3229:102,13,9 0/0:0,.,.,-15.6547,.,-319.203,-18.277,.,-303.47,-320.353:205:122:.,11,15:.,311,291:3888:122,11,15 0/0:0,.,.,-16.7202,.,-336.979,-22.1082,.,-323.268,-339.697:199:126:.,11,17:.,345,295:4072:126,11,17 0/1:-64.87,0,-137.375,.,.,.,.,.,.,.:193:61:52,.,.:1172,.,.:1938:61,52 0/1:-37.1566,0,-137.418,.,.,.,.,.,.,.:165:62:42,.,.:876,.,.:1986:62,42 0/2:-3.135,.,.,0,.,-180.897,-20.2634,.,-179.364,-202.285:139:72:.,14,8:.,388,122:2278:72,14,8 chr7 81766010 . C T 6503.51 . AB=0.424102;ABP=46.1906;AC=1;AF=0.5;AN=2;AO=366;CIGAR=1X;DP=863;DPB=863;DPRA=0;EPP=3.10523;EPPR=3.47429;GTI=0;LEN=1;MEANALT=3;MQM=39.6667;MQMR=39.4679;NS=1;NUMALT=1;ODDS=1497.49;PAIRED=0.97541;PAIREDR=0.942308;PAO=0;PQA=0;PQR=0;PRO=0;QA=10633;QR=13296;RO=468;RPL=198;RPP=8.34999;RPPR=10.4341;RPR=168;RUN=1;SAF=175;SAP=4.52914;SAR=191;SF=0;SRF=249;SRP=7.18621;SRR=219;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs370574759;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.94e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=9.95e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0247;dpsi_zscore=-0.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.145e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=4.054e-05;gnomAD_genome_ALL=3.259e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.714e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-661.456,0,-889.268:863:468:366:10633:13296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 81799966 . G A 5448.73 . AB=0.470339;ABP=6.61715;AC=9;AF=0.5;AN=18;AO=222;CIGAR=1X;DP=5439;DPB=472;DPRA=0;EPP=35.915;EPPR=7.12025;GTI=0;LEN=1;MEANALT=3;MQM=38.6486;MQMR=40.3047;NS=1;NUMALT=1;ODDS=874.91;PAIRED=0.986486;PAIREDR=0.982833;PAO=0;PQA=0;PQR=0;PRO=0;QA=6298;QR=7232;RO=233;RPL=151;RPP=65.6113;RPPR=117.837;RPR=71;RUN=1;SAF=107;SAP=3.63631;SAR=115;SF=0,1;SRF=128;SRP=7.94038;SRR=105;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0270;esp6500siv2_ea=0.0274;esp6500siv2_all=0.0270;esp6500siv2_ea=0.0274;1000g2015aug_all=0.0139776;avsnp147=rs17155967;Kaviar_AF=0.0190166;Kaviar_AC=2940;Kaviar_AN=154602;ExAC_ALL=0.0194;ExAC_AFR=0.0299;ExAC_AMR=0.0134;ExAC_EAS=0;ExAC_FIN=0.0138;ExAC_NFE=0.0244;ExAC_OTH=0.0354;ExAC_SAS=0.0083;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3135;dpsi_zscore=-0.873;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0187;gnomAD_exome_AFR=0.0290;gnomAD_exome_AMR=0.0124;gnomAD_exome_ASJ=0.0108;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0142;gnomAD_exome_NFE=0.0265;gnomAD_exome_OTH=0.0265;gnomAD_exome_SAS=0.0075;gnomAD_genome_ALL=0.0214;gnomAD_genome_AFR=0.0305;gnomAD_genome_AMR=0.0168;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0089;gnomAD_genome_NFE=0.0216;gnomAD_genome_OTH=0.0184;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-397.018,0,-482.728:472:233:222:6298:7232 . . . . . . . . . . . 0/1:-690.347,0,-738.185:747:372:362:10787:10982 . . . . . . . . . . 0/1:-513.697,0,-560.233:573:290:271:7897:8517 . . . . . . . . . . . 0/1:-523.764,0,-474.836:543:249:277:7965:7280 . . . . . . 0/1:-525.807,0,-735.751:664:350:300:8374:10650 . . . . . 0/1:-582.054,0,-573.678:631:307:310:8972:8804 . . . . . . . . . . . . . . . . . 0/1:-627.546,0,-483.304:598:268:319:9337:7555 . . . . . . . . . . 0/1:-735.143,0,-459.752:647:254:378:10682:7456 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-542.189,0,-632.484:564:293:264:8225:9166:293,264 . . chr7 81799990 . T C 3538.18 . AB=0.445983;ABP=12.1594;AC=9;AF=0.5;AN=18;AO=161;CIGAR=1X;DP=4244;DPB=361;DPRA=0;EPP=82.9771;EPPR=48.6112;GTI=0;LEN=1;MEANALT=3;MQM=39.4224;MQMR=40.5238;NS=1;NUMALT=1;ODDS=556.395;PAIRED=0.993789;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4210;QR=5477;RO=189;RPL=87;RPP=5.28967;RPPR=43.0045;RPR=74;RUN=1;SAF=53;SAP=43.8097;SAR=108;SF=0,1;SRF=87;SRP=5.59539;SRR=102;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0703;esp6500siv2_ea=0.0292;esp6500siv2_all=0.0703;esp6500siv2_ea=0.0292;1000g2015aug_all=0.0609026;avsnp147=rs73705856;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0794;dpsi_zscore=-0.383;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0585;gnomAD_genome_AFR=0.1610;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0089;gnomAD_genome_NFE=0.0218;gnomAD_genome_OTH=0.0226;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-261.742,0,-368.166:361:189:161:4210:5477 . . . . . . . . . . . 0/1:-468.618,0,-563.132:575:290:273:7465:8397 . . . . . . . . . . 0/1:-373.216,0,-431.027:464:230:223:5849:6472 . . . . . . . . . . . 0/1:-327.674,0,-381.13:426:204:207:5275:5793 . . . . . . 0/1:-407.682,0,-503.138:515:254:245:6419:7482 . . . . . 0/1:-382.373,0,-467.15:485:241:234:6077:7006 . . . . . . . . . . . . . . . . . 0/1:-454.855,0,-402.359:512:229:269:7022:6327 . . . . . . . . . . 0/1:-447.853,0,-398.098:494:217:257:6753:6155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-337.506,0,-502.236:412:232:175:5364:7147:232,175 . . chr7 81799996 . C G 3284.61 . AB=0.434659;ABP=16.0638;AC=9;AF=0.5;AN=18;AO=153;CIGAR=1X;DP=4200;DPB=352;DPRA=0;EPP=96.1281;EPPR=35.9972;GTI=0;LEN=1;MEANALT=3;MQM=39.2549;MQMR=40.5393;NS=1;NUMALT=1;ODDS=512.188;PAIRED=0.993464;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3965;QR=4885;RO=178;RPL=79;RPP=3.36512;RPPR=52.9786;RPR=74;RUN=1;SAF=51;SAP=39.9253;SAR=102;SF=0,1;SRF=82;SRP=5.40136;SRR=96;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0701;esp6500siv2_ea=0.0289;esp6500siv2_all=0.0701;esp6500siv2_ea=0.0289;1000g2015aug_all=0.0609026;avsnp147=rs73387972;Kaviar_AF=0.0062354;Kaviar_AC=964;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0255;dpsi_zscore=0.171;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0586;gnomAD_genome_AFR=0.1614;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0089;gnomAD_genome_NFE=0.0218;gnomAD_genome_OTH=0.0225;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-243.287,0,-325.882:352:178:153:3965:4885 . . . . . . . . . . . 0/1:-438.074,0,-476.13:562:267:272:6989:7255 . . . . . . . . . . 0/1:-359.586,0,-371.342:464:211:220:5585:5730 . . . . . . . . . . . 0/1:-329.503,0,-330.132:426:187:212:5263:5152 . . . . . . 0/1:-368.291,0,-449.737:513:248:236:5860:6809 . . . . . 0/1:-320.272,0,-422.834:483:227:219:5255:6370 . . . . . . . . . . . . . . . . . 0/1:-432.41,0,-336.475:520:215:265:6624:5453 . . . . . . . . . . 0/1:-437.191,0,-355.597:486:201:257:6552:5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-313.324,0,-441.468:394:213:168:4912:6343:213,168 . . chr7 81964578 . GAAAAAAAAAACTAG GAAAAAAAAAAACTAG,AAAAAAAAAAACTAG,TAAAAAAAAAACTAG,GAAAAAAAAACTAG,TAAAAAAAAAAACTAG 1158.42 . 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0/0:.,.,.,.,.,.,.,.,.,-170.78,.,.,.,.,.,.,.,.,.,.,.:86:78:.,.,6,.,.:.,.,173,.,.:2180:78,6 1/1:-64.325,-3.97524,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:73:4:36,.,.,.,.:849,.,.,.,.:124:4,36 0/0:0,.,.,.,.,.,.,.,.,.,-5.02426,.,.,.,-110.178,.,.,.,.,.,.:67:43:.,.,.,4,.:.,.,.,123,.:1384:43,4 0/0:0,.,.,.,.,.,-9.48471,.,.,-136.299,.,.,.,.,.,.,.,.,.,.,.:69:51:.,.,5,.,.:.,.,85,.,.:1649:51,5 0/0:0,-2.7507,-76.0873,-4.22687,-72.4961,-77.3375,.,.,.,.,.,.,.,.,.,-5.63183,-73.897,-73.3415,.,.,-78.7381:54:30:4,3,.,.,4:104,69,.,.,77:962:30,4,4,3 0/0:0,-9.60382,-128.95,.,.,.,-9.71043,-123.62,.,-128.753,.,.,.,.,.,.,.,.,.,.,.:80:54:4,.,5,.,.:91,.,92,.,.:1693:54,4,5 . 0/1:-7.57578,0,-42.5317,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:54:20:12,.,.,.,.:240,.,.,.,.:654:20,12 0/0:.,.,.,.,.,.,.,.,.,-172.448,.,.,.,.,.,.,.,.,.,.,.:74:69:.,.,4,.,.:.,.,87,.,.:2091:69,4 0/0:0,-2.11682,-110.597,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:63:44:5,.,.,.,.:143,.,.,.,.:1399:44,5 0/1:-47.3205,0,-4.82246,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:64:6:29,.,.,.,.:660,.,.,.,.:178:6,29 0/1:-11.3621,0,-51.7191,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:66:23:15,.,.,.,.:267,.,.,.,.:722:23,15 0/0:.,.,.,.,.,.,.,.,.,-137.96,.,.,.,.,.,.,.,.,.,.,.:69:60:.,.,8,.,.:.,.,134,.,.:1748:60,8 0/1:-27.3673,0,-40.7544,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:66:20:16,.,.,.,.:445,.,.,.,.:606:20,16 0/0:.,.,.,.,.,.,.,.,.,-153.723,.,.,.,.,.,.,.,.,.,.,.:74:66:.,.,7,.,.:.,.,149,.,.:1992:66,7 chr7 91603115 . C T 5509.21 . AB=0.48513;ABP=4.04357;AC=3;AF=0.5;AN=6;AO=261;CIGAR=1X;DP=1675;DPB=538;DPRA=0;EPP=22.9862;EPPR=18.9344;GTI=0;LEN=1;MEANALT=3;MQM=40.3103;MQMR=40.5038;NS=1;NUMALT=1;ODDS=1202.23;PAIRED=0.980843;PAIREDR=0.958333;PAO=0;PQA=0;PQR=0;PRO=0;QA=8109;QR=8242;RO=264;RPL=106;RPP=22.9862;RPPR=18.9344;RPR=155;RUN=1;SAF=87;SAP=65.983;SAR=174;SF=0;SRF=112;SRP=16.1707;SRR=152;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon2:c.C139T:p.H47Y,AKAP9:NM_147185:exon2:c.C139T:p.H47Y;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0097;esp6500siv2_ea=0.0140;esp6500siv2_all=0.0097;esp6500siv2_ea=0.0140;1000g2015aug_all=0.00219649;avsnp147=rs35669569;Kaviar_AF=0.0083958;Kaviar_AC=1298;Kaviar_AN=154602;ExAC_ALL=0.0081;ExAC_AFR=0.0016;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0141;ExAC_NFE=0.0127;ExAC_OTH=0.0022;ExAC_SAS=0.0004;CLNALLELEID=189264;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.23;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.462;LRT_pred=N;MutationTaster_score=0.979;MutationTaster_pred=N;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=2.57;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_pred=N;VEST3_score=0.066;CADD_raw=-1.115;CADD_phred=0.009;DANN_score=0.666;fathmm-MKL_coding_score=0.553;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=0.478;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.055;phastCons7way_vertebrate=0.427;phastCons20way_mammalian=0.938;SiPhy_29way_logOdds=0.731;GDI_full_10282015=.;dpsi_max_tissue=0.1183;dpsi_zscore=0.537;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0138;gnomAD_exome_NFE=0.0133;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0082;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0169;gnomAD_genome_NFE=0.0108;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-539.904,0,-549.698:538:264:261:8109:8242 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-600.158,0,-532.569:558:263:289:8992:8097 . . . . . . 0/1:-570.146,0,-556.581:579:276:291:8662:8396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91609712 . T G 512.96 . AB=0.451613;ABP=4.27115;AC=1;AF=0.5;AN=2;AO=28;CIGAR=1X;DP=62;DPB=62;DPRA=0;EPP=4.25114;EPPR=23.7032;GTI=0;LEN=1;MEANALT=1;MQM=41.6429;MQMR=41.8824;NS=1;NUMALT=1;ODDS=118.113;PAIRED=0.821429;PAIREDR=0.882353;PAO=0;PQA=0;PQR=0;PRO=0;QA=860;QR=1020;RO=34;RPL=11;RPP=5.80219;RPPR=7.09778;RPR=17;RUN=1;SAF=13;SAP=3.32051;SAR=15;SF=0;SRF=11;SRP=12.2071;SRR=23;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0783;dpsi_zscore=0.412;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . 0/1:-57.3142,0,-71.6427:62:34:28:860:1020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91622303 . G C 4453.21 . AB=0.463768;ABP=10.0912;AC=2;AF=0.5;AN=4;AO=288;CIGAR=1X;DP=1083;DPB=621;DPRA=0;EPP=46.5604;EPPR=19.0525;GTI=0;LEN=1;MEANALT=3;MQM=36.5243;MQMR=37.1231;NS=1;NUMALT=1;ODDS=1135.29;PAIRED=0.916667;PAIREDR=0.913846;PAO=0;PQA=0;PQR=0;PRO=0;QA=8513;QR=10106;RO=325;RPL=141;RPP=3.28173;RPPR=15.3643;RPR=147;RUN=1;SAF=147;SAP=3.28173;SAR=141;SF=0;SRF=184;SRP=15.3643;SRR=141;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon5:c.G510C:p.E170D,AKAP9:NM_147185:exon5:c.G510C:p.E170D;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0034;1000g2015aug_all=0.00119808;avsnp147=rs144888041;Kaviar_AF=0.0019081;Kaviar_AC=295;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0007;ExAC_AMR=0.0052;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0022;ExAC_OTH=0.0011;ExAC_SAS=6.058e-05;CLNALLELEID=188434;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Brugada_syndrome_1|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN029323,OMIM:601144|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.241;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_pred=B;LRT_score=0.022;LRT_pred=N;MutationTaster_score=0.932;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=1.16;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_pred=N;VEST3_score=0.162;CADD_raw=2.587;CADD_phred=20.1;DANN_score=0.924;fathmm-MKL_coding_score=0.911;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.021;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.48;phyloP7way_vertebrate=-0.026;phyloP20way_mammalian=0.078;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.437;GDI_full_10282015=.;dpsi_max_tissue=0.0933;dpsi_zscore=0.463;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0038;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0026;gnomAD_exome_OTH=0.0053;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-505.458,0,-634.653:621:325:288:8513:10106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-413.46,0,-453.758:462:232:222:6658:7328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91630179 . A G 2566.83 . AB=0.533597;ABP=5.49076;AC=1;AF=0.5;AN=2;AO=135;CIGAR=1X;DP=253;DPB=253;DPRA=0;EPP=35.5824;EPPR=35.8954;GTI=0;LEN=1;MEANALT=3;MQM=40.3037;MQMR=39.5405;NS=1;NUMALT=1;ODDS=419.23;PAIRED=0.97037;PAIREDR=0.990991;PAO=0;PQA=0;PQR=0;PRO=0;QA=3954;QR=3154;RO=111;RPL=74;RPP=5.72866;RPPR=17.2716;RPR=61;RUN=1;SAF=81;SAP=14.7363;SAR=54;SF=0;SRF=52;SRP=3.96888;SRR=59;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.A948G:p.V316V,AKAP9:NM_147185:exon8:c.A948G:p.V316V;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs767404316;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0011;ExAC_OTH=0.0047;ExAC_SAS=0.0006;CLNALLELEID=258488;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0027;dpsi_zscore=0.022;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0025;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0012;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-268.713,0,-194.094:253:111:135:3954:3154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91630620 . G T 9352.64 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=749;CIGAR=1X;DP=45277;DPB=764;DPRA=0;EPP=3.3611;EPPR=12.7819;GTI=0;LEN=1;MEANALT=2;MQM=39.7196;MQMR=37;NS=1;NUMALT=1;ODDS=987.881;PAIRED=0.966622;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=23108;QR=178;RO=8;RPL=419;RPP=25.9746;RPPR=20.3821;RPR=330;RUN=1;SAF=486;SAP=147.183;SAR=263;SF=0,1;SRF=7;SRP=12.7819;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G1389T:p.M463I,AKAP9:NM_147185:exon8:c.G1389T:p.M463I;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4405;esp6500siv2_ea=0.4030;esp6500siv2_all=0.4405;esp6500siv2_ea=0.4030;1000g2015aug_all=0.372204;avsnp147=rs6964587;Kaviar_AF=0.37713;Kaviar_AC=58305;Kaviar_AN=154602;ExAC_ALL=0.3829;ExAC_AFR=0.5114;ExAC_AMR=0.3056;ExAC_EAS=0.1745;ExAC_FIN=0.3857;ExAC_NFE=0.4004;ExAC_OTH=0.4;ExAC_SAS=0.3926;CLNALLELEID=140050;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Colorectal_cancer|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN221574|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.166;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.93;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_pred=N;VEST3_score=0.044;CADD_raw=-0.375;CADD_phred=0.443;DANN_score=0.371;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.965;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-3.46;phyloP7way_vertebrate=-0.420;phyloP20way_mammalian=-1.629;phastCons7way_vertebrate=0.781;phastCons20way_mammalian=0.045;SiPhy_29way_logOdds=13.89;GDI_full_10282015=.;dpsi_max_tissue=-0.0181;dpsi_zscore=-0.092;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM064968#"Colorectal_cancer_increased_risk_association_with";gnomAD_exome_ALL=0.3782;gnomAD_exome_AFR=0.5143;gnomAD_exome_AMR=0.3094;gnomAD_exome_ASJ=0.5469;gnomAD_exome_EAS=0.1710;gnomAD_exome_FIN=0.3913;gnomAD_exome_NFE=0.3908;gnomAD_exome_OTH=0.3869;gnomAD_exome_SAS=0.3910;gnomAD_genome_ALL=0.4037;gnomAD_genome_AFR=0.5064;gnomAD_genome_AMR=0.3213;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1745;gnomAD_genome_FIN=0.3738;gnomAD_genome_NFE=0.3782;gnomAD_genome_OTH=0.3937;Whole_Blood=Whole_Blood::0.394521::-0.109678;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1959.44,-212.144,0:764:8:749:23108:178 1/1:-1731.28,-188.131,0:668:6:659:20436:142 1/1:-1178.31,-133.052,0:452:1:445:13826:14 0/1:-730.362,0,-592.588:677:299:369:11076:9474 1/1:-1750.92,-174.963,0:695:11:676:20701:361 0/1:-636.827,0,-672.838:662:331:322:9798:10075 . . 0/1:-758.712,0,-828.188:789:404:379:11532:12447 1/1:-1792.07,-200.975,0:693:4:683:20862:122 0/1:-604.26,0,-533.989:546:255:284:8837:8089 0/1:-497.902,0,-726.9:617:338:271:7949:10494 . . . 0/1:-551.431,0,-472.423:531:242:281:8272:7482 . 1/1:-1577.26,-164.136,0:610:6:595:18583:190 . 0/1:-567.799,0,-445.11:498:223:272:8340:6820 0/1:-892.397,0,-809.502:815:388:421:13190:12138 . . 1/1:-1830.01,-184.323,0:728:14:707:21689:407 0/1:-542.69,0,-523.841:543:261:275:8273:7945 0/1:-570.227,0,-604.316:579:292:281:8636:8924 0/1:-706.808,0,-896.65:779:417:353:10869:13101 0/1:-535.304,0,-475.555:527:243:278:8134:7339 . 0/1:-649.951,0,-668.87:654:335:315:9755:10123 0/1:-905.131,0,-812.218:834:387:431:13367:12269 . . 0/1:-626.614,0,-761.145:681:356:313:9642:11196 0/1:-771.406,0,-743.989:762:368:388:11618:11250 0/1:-482.583,0,-496.999:475:229:239:7274:7389 0/1:-805.568,0,-639.028:715:317:392:11954:9957 . . 0/1:-710.785,0,-932.614:812:435:370:11245:13716 0/1:-539.841,0,-712.512:622:335:277:8333:10596 0/1:-547.407,0,-682.739:614:325:286:8494:10024 1/1:-1655.22,-169.807,0:653:10:634:19574:301 0/1:-971.44,0,-748.073:861:378:474:14556:11606 0/1:-734.357,0,-644.904:697:327:365:11013:9842 0/1:-654.588,0,-606.658:638:294:340:10061:9335 . 0/1:-573.758,0,-577.716:561:269:287:8621:8584 . 0/1:-665.753,0,-760.444:699:356:338:10227:11283 . . 1/1:-1711.53,-190.063,0:658:4:648:20037:76 0/1:-566.477,0,-561.712:575:283:288:8666:8546 1/1:-1355.72,-146.808,0:530:4:517:15892:113 . . . . 1/1:-1158.83,-123.553,0:473:7:461:13740:221 0/1:-743.717,0,-711.406:710:342:365:11105:10657 . 0/1:-503.608,0,-509.681:507:246:251:7617:7756 0/1:-838.682,0,-790.963:785:377:400:12572:11849 1/1:-1753.41,-179.809,0:683:10:670:20793:280 1/1:-994.67,-108.168,0:398:4:390:11824:118 . . . . . . . 0/1:-592.429,0,-624.635:602:299:293:8831:9367 1/1:-1669.38,-158.132,0:675:17:645:19966:497 0/1:-593.049,0,-712.078:650:339:303:9151:10450 . 1/1:-1249.85,-137.054,0:497:4:485:14771:122 0/1:-391.271,0,-369.127:396:188:201:6039:5655 1/1:-1720.92,-186.82,0:684:9:668:20210:209 0/1:-807.41,0,-706.346:747:345:394:11920:10634 0/1:-702.281,0,-619.99:656:312:340:10413:9466 0/1:-629.388,0,-406.844:529:220:300:9212:6598 0/1:-539.925,0,-534.451:546:266:275:8308:8086 . 0/1:-622.297,0,-631.12:615:303:308:9382:9460 0/1:-719.282,0,-748.537:729:364:356:10904:11273 1/1:-1070.94,-119.979,0:413:2:408:12484:72 . 1/1:-2404.77,-247.525,0:958:15:933:28391:436 . 0/1:-792.154,0,-801.542:779:392:385:11878:12007 . . . 0/1:-751.739,0,-743.022:701:353:348:11098:10932:353,348 0/1:-614.448,0,-772.294:650:348:299:9396:11137:348,299 0/1:-797.032,0,-908.404:792:414:375:11922:13176:414,375 . 1/1:-1636.43,-160.924,0:608:7:601:19152:248:7,601 . 0/1:-880.276,0,-633.146:689:304:382:12525:9736:304,382 0/1:-793.127,0,-666.876:673:314:358:11464:10106:314,358 0/1:-692.675,0,-636.862:615:301:314:10128:9439:301,314 . 1/1:-1881.18,-169.644,0:712:17:692:22248:495:17,692 . 0/1:-609.214,0,-722.852:612:318:292:9178:10408:318,292 . . . 1/1:-1916.46,-176.007,0:725:15:709:22735:474:15,709 . 0/1:-671.033,0,-723.569:655:332:317:9902:10546:332,317 0/1:-619.643,0,-703.473:599:318:279:9179:10174:318,279 chr7 91632306 . C T 7601.88 . AB=0;ABP=0;AC=198;AF=1;AN=228;AO=387;CIGAR=1X;DP=40006;DPB=391;DPRA=0;EPP=28.1983;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=40.0491;MQMR=0;NS=1;NUMALT=1;ODDS=539.492;PAIRED=0.984496;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=11977;QR=0;RO=0;RPL=183;RPP=5.48477;RPPR=0;RPR=204;RUN=1;SAF=280;SAP=170.943;SAR=107;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.9064;esp6500siv2_ea=0.8727;esp6500siv2_all=0.9064;esp6500siv2_ea=0.8727;1000g2015aug_all=0.935903;avsnp147=rs1989779;Kaviar_AF=0.881858;Kaviar_AC=136337;Kaviar_AN=154602;ExAC_ALL=0.8924;ExAC_AFR=0.9750;ExAC_AMR=0.9440;ExAC_EAS=0.9757;ExAC_FIN=0.8467;ExAC_NFE=0.8650;ExAC_OTH=0.8921;ExAC_SAS=0.8897;CLNALLELEID=140052;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0099;dpsi_zscore=0.068;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8925;gnomAD_exome_AFR=0.9763;gnomAD_exome_AMR=0.9423;gnomAD_exome_ASJ=0.8845;gnomAD_exome_EAS=0.9740;gnomAD_exome_FIN=0.8465;gnomAD_exome_NFE=0.8638;gnomAD_exome_OTH=0.8776;gnomAD_exome_SAS=0.8936;gnomAD_genome_ALL=0.8912;gnomAD_genome_AFR=0.9731;gnomAD_genome_AMR=0.9284;gnomAD_genome_ASJ=0.8676;gnomAD_genome_EAS=0.9728;gnomAD_genome_FIN=0.8373;gnomAD_genome_NFE=0.8471;gnomAD_genome_OTH=0.8678;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1031.86,-116.499,0:391:0:387:11977:0 1/1:-1157.86,-124.186,0:450:5:442:13783:123 1/1:-1026.34,-111.867,0:389:3:385:12105:55 1/1:-773.886,-86.3956,0:288:0:287:9153:0 0/1:-431.501,0,-333.006:367:163:193:6247:5108 1/1:-1012.61,-111.727,0:384:1:377:11849:36 1/1:-910.785,-103.253,0:345:0:343:10747:0 0/1:-386.073,0,-382.049:371:185:182:5887:5663 1/1:-683.968,-70.2686,0:267:4:262:8202:136 1/1:-1069.29,-121.917,0:406:0:405:12686:0 1/1:-942.945,-99.6142,0:356:2:349:10948:68 1/1:-889.295,-88.5818,0:338:5:331:10506:150 1/1:-919.019,-102.049,0:343:0:339:10685:0 0/1:-278.971,0,-295.228:290:148:137:4314:4479 0/1:-320.711,0,-270.848:302:139:157:4789:4180 0/1:-511.823,0,-453.751:463:222:236:7578:6817 1/1:-601.084,-67.0767,0:232:1:229:7106:36 . 1/1:-971.633,-100.021,0:376:4:365:11484:125 0/1:-272.846,0,-253.691:262:125:133:4179:3847 0/1:-235.504,0,-314.796:280:151:122:3766:4649 0/1:-457.83,0,-433.398:434:212:218:6866:6520 1/1:-685.377,-70.6548,0:265:3:260:8098:95 1/1:-899.803,-96.6374,0:338:2:335:10567:53 1/1:-1109.46,-122.598,0:420:1:417:12993:36 0/1:-386.921,0,-324.018:346:158:183:5772:4991 0/1:-338.231,0,-275.301:297:140:155:4927:4221 1/1:-1033.24,-110.57,0:393:3:389:12109:82 1/1:-760.726,-74.8174,0:298:5:291:9059:161 1/1:-709.547,-69.1246,0:273:4:267:8402:140 0/1:-374.832,0,-336.13:343:166:176:5597:5192 1/1:-1306.63,-144.494,0:483:0:480:15222:0 0/1:-414.346,0,-406.848:407:203:196:6194:6165 1/1:-809.794,-91.5131,0:306:0:304:9563:0 1/1:-1180.93,-130.346,0:434:0:433:13775:0 1/1:-1095.2,-117.455,0:410:2:406:13015:72 1/1:-772.414,-81.0418,0:289:2:285:9067:59 1/1:-1300.77,-144.795,0:482:0:481:15100:0 1/1:-959.386,-106.866,0:360:0:355:11295:0 1/1:-717.029,-76.7627,0:257:0:255:8273:0 0/1:-450.676,0,-498.696:442:224:213:6758:7239 1/1:-845.884,-86.615,0:333:4:325:9975:140 0/1:-317.888,0,-411.085:345:184:155:4925:5941 1/1:-1058.87,-113.209,0:397:2:391:12380:57 1/1:-1212.95,-129.511,0:447:2:443:14166:50 0/1:-378.463,0,-410.289:388:199:182:5870:6152 1/1:-892.401,-96.1256,0:340:2:335:10504:59 0/1:-240.631,0,-207.558:216:101:113:3559:3126 1/1:-925.429,-102.35,0:342:0:340:10751:0 1/1:-1133.58,-124.756,0:422:1:420:13248:21 0/1:-359.095,0,-417.567:383:200:176:5586:6195 1/1:-793.524,-82.6697,0:308:4:302:9406:105 0/1:-531.204,0,-419.769:458:213:242:7768:6528 1/1:-1043.5,-113.041,0:380:1:379:12101:14 1/1:-739.081,-79.0837,0:293:3:288:8835:95 1/1:-771.628,-87.9008,0:293:0:292:8968:0 1/1:-1034.57,-107.955,0:388:3:385:12139:96 1/1:-589.194,-65.9256,0:223:0:219:6939:0 1/1:-870.423,-99.0389,0:329:0:329:10208:0 1/1:-853.041,-89.3338,0:319:2:315:9928:68 1/1:-819.519,-92.7172,0:310:0:308:9562:0 1/1:-1109.13,-123.121,0:412:0:409:12956:0 1/1:-811.339,-85.0881,0:304:2:301:9589:68 1/1:-801.861,-87.9032,0:317:3:314:9629:82 1/1:-1171.49,-131.55,0:441:0:437:13607:0 1/1:-868.229,-91.5668,0:316:1:314:10059:36 1/1:-663.08,-77.3647,0:261:0:257:7855:0 1/1:-1163.99,-126.82,0:441:2:437:13626:68 1/1:-760.275,-81.8802,0:273:0:272:8811:0 0/1:-432.215,0,-431.004:442:221:210:6555:6566 1/1:-913.645,-98.8152,0:341:1:338:10764:36 0/1:-456.065,0,-410.941:429:204:216:6791:6230 1/1:-1108.32,-119.474,0:408:1:404:12952:27 1/1:-665.736,-76.7017,0:276:2:273:8002:68 1/1:-908.136,-93.369,0:334:3:327:10608:67 1/1:-1078.85,-119.297,0:409:1:406:12664:36 0/1:-330.281,0,-468.785:395:218:168:5226:6747 1/1:-1109.18,-121.104,0:414:1:411:12803:32 1/1:-773.541,-85.7936,0:288:0:285:8960:0 1/1:-787.15,-84.5154,0:290:1:288:9210:27 1/1:-1088.65,-117.703,0:393:0:391:12636:0 1/1:-1066.99,-119.81,0:401:0:398:12388:0 1/1:-1032.55,-118.004,0:394:0:392:12126:0 1/1:-870.852,-96.8664,0:328:1:325:10121:14 1/1:-831.154,-84.8282,0:333:7:322:9818:202 1/1:-822.114,-87.2266,0:312:2:308:9696:68 1/1:-828.479,-93.9214,0:318:0:312:9631:0 0/1:-392.224,0,-450.383:401:206:192:5991:6545 1/1:-570.452,-63.5173,0:213:0:211:6712:0 0/1:-479.582,0,-441.172:452:218:230:7147:6715 1/1:-1318.16,-143.093,0:494:2:487:15463:46 0/1:-358.04,0,-307.887:331:155:168:5314:4700 1/1:-1044.83,-106.051,0:392:4:387:12250:144 0/1:-377.517,0,-394.149:367:184:179:5613:5793 1/1:-1057.28,-119.208,0:399:0:396:12359:0 . 1/1:-839.067,-90.61,0:301:0:301:9714:0:0,301 1/1:-988.977,-108.07,0:363:0:359:11499:0:0,359 1/1:-960.042,-100.956,0:350:1:345:11088:36:1,345 1/1:-499.37,-52.3243,0:181:1:177:5741:14:1,177 1/1:-787.496,-83.8228,0:292:1:287:9160:32:1,287 0/1:-488.568,0,-439.145:435:210:220:7114:6548:210,220 1/1:-858.094,-88.0003,0:317:2:309:9952:63:2,309 1/1:-985.896,-103.608,0:356:1:354:11411:36:1,354 0/1:-342.924,0,-441.831:365:192:163:5216:6275:192,163 1/1:-761.601,-82.7833,0:277:0:275:8752:0:0,275 1/1:-886.264,-90.0442,0:319:2:316:10327:63:2,316 1/1:-819.985,-85.3277,0:297:1:292:9441:32:1,292 0/1:-358.114,0,-410.556:357:187:165:5363:5910:187,165 0/1:-336.356,0,-332.235:328:163:159:4989:4956:163,159 1/1:-920.684,-97.5127,0:330:1:327:10649:14:1,327 1/1:-1114.89,-117.047,0:399:1:396:12886:27:1,396 1/1:-1076.17,-117.703,0:395:0:391:12595:0:0,391 1/1:-854.801,-90.9111,0:305:0:302:9768:0:0,302 0/1:-385.613,0,-345.705:347:163:178:5641:5168:163,178 1/1:-774.028,-83.9874,0:282:0:279:8960:0:0,279 chr7 91641928 . A G 10136.23 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=851;CIGAR=1X;DP=53034;DPB=902;DPRA=0;EPP=13.1379;EPPR=16.582;GTI=0;LEN=1;MEANALT=3;MQM=40.0811;MQMR=40.1875;NS=1;NUMALT=1;ODDS=1039.6;PAIRED=0.956522;PAIREDR=0.9375;PAO=0;PQA=0;PQR=0;PRO=0;QA=25535;QR=488;RO=16;RPL=500;RPP=59.66;RPPR=5.18177;RPR=351;RUN=1;SAF=286;SAP=201.635;SAR=565;SF=0,1;SRF=5;SRP=7.89611;SRR=11;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon9:c.A3504G:p.E1168E,AKAP9:NM_147185:exon9:c.A3504G:p.E1168E;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4418;esp6500siv2_ea=0.4031;esp6500siv2_all=0.4418;esp6500siv2_ea=0.4031;1000g2015aug_all=0.373802;avsnp147=rs13245393;Kaviar_AF=0.378158;Kaviar_AC=58464;Kaviar_AN=154602;ExAC_ALL=0.3838;ExAC_AFR=0.5173;ExAC_AMR=0.3059;ExAC_EAS=0.1753;ExAC_FIN=0.3857;ExAC_NFE=0.4006;ExAC_OTH=0.4007;ExAC_SAS=0.3937;CLNALLELEID=140053;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1574;dpsi_zscore=-0.598;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3788;gnomAD_exome_AFR=0.5202;gnomAD_exome_AMR=0.3097;gnomAD_exome_ASJ=0.5474;gnomAD_exome_EAS=0.1715;gnomAD_exome_FIN=0.3913;gnomAD_exome_NFE=0.3908;gnomAD_exome_OTH=0.3875;gnomAD_exome_SAS=0.3922;gnomAD_genome_ALL=0.4048;gnomAD_genome_AFR=0.5113;gnomAD_genome_AMR=0.3198;gnomAD_genome_ASJ=0.53;gnomAD_genome_EAS=0.1749;gnomAD_genome_FIN=0.3733;gnomAD_genome_NFE=0.3779;gnomAD_genome_OTH=0.3945;Whole_Blood=Whole_Blood::0.394309::-0.110497;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2160.97,-217.968,0:902:16:851:25535:488 1/1:-1905.57,-214.851,0:782:6:749:22309:181 1/1:-1287.89,-144.543,0:539:7:517:15124:160 0/1:-849.29,0,-797.719:842:398:421:12737:12310 1/1:-1729.85,-159.402,0:754:21:699:20673:664 0/1:-604.39,0,-855.834:741:398:327:9553:12301 . . 0/1:-772.357,0,-1046.77:902:480:400:12059:15245 1/1:-1644.06,-182.233,0:673:6:648:19253:182 0/1:-636.157,0,-832.525:762:392:346:9891:12341 0/1:-711.243,0,-669.844:693:324:355:10636:10134 . . . 0/1:-632.338,0,-782.456:714:370:330:9781:11476 . 1/1:-2019.74,-206.505,0:856:19:798:23803:461 . 0/1:-467.798,0,-660.736:577:310:255:7462:9629 0/1:-796.806,0,-1152.9:963:530:416:12507:16659 . . 1/1:-2165.32,-237.623,0:874:8:843:25204:253 0/1:-537.802,0,-785.773:691:366:299:8524:11490 0/1:-653.609,0,-713.787:683:334:329:9903:10716 0/1:-816.45,0,-989.145:911:459:425:12453:14486 0/1:-578.731,0,-600.093:617:294:298:8770:8971 . 0/1:-773.874,0,-693.525:745:337:388:11435:10473 0/1:-900.719,0,-1065.17:983:491:460:13742:15687 . . 0/1:-903.465,0,-812.85:867:398:450:13423:12540 0/1:-837.032,0,-834.214:858:400:432:12702:12506 0/1:-672.666,0,-761.522:729:361:347:10376:11362 0/1:-1020.73,0,-1049.94:1057:512:527:15668:15861 . . 0/1:-862.047,0,-967.321:935:454:451:13196:14375 0/1:-679.419,0,-625.901:679:304:351:10232:9598 0/1:-543.517,0,-676.206:613:323:278:8415:9948 1/1:-1788.78,-193.287,0:729:7:700:20975:222 0/1:-843.219,0,-1045.53:974:500:444:13056:15572 0/1:-697.626,0,-905.895:820:424:371:10906:13320 0/1:-574.573,0,-678.049:650:323:313:8967:10066 . 0/1:-729.496,0,-715.475:734:342:373:11081:10783 . 0/1:-667.803,0,-740.484:695:344:339:10108:10923 . . 1/1:-1775.59,-171.975,0:767:22:722:21030:596 0/1:-563.553,0,-674.329:626:317:288:8618:9862 1/1:-1414.81,-165.245,0:568:1:552:16325:14 . . . . 1/1:-1268.88,-131.246,0:544:11:514:15070:333 0/1:-835.762,0,-916.949:874:430:421:12646:13612 . 0/1:-553.05,0,-687.374:637:332:287:8555:10080 0/1:-831.235,0,-993.626:932:476:436:12916:14749 1/1:-1946.33,-203.515,0:818:16:782:22989:439 1/1:-1317.54,-144.545,0:550:7:525:15594:177 . . . . . . . 0/1:-664.539,0,-731.519:714:341:353:10212:10842 1/1:-2094.81,-236.375,0:880:10:840:24644:227 0/1:-654.601,0,-829.124:745:391:338:10281:12070 . 1/1:-1191.42,-117.058,0:510:12:478:14239:345 0/1:-616.856,0,-561.975:605:272:316:9212:8641 1/1:-1817.82,-181.795,0:756:16:712:21425:427 0/1:-773.073,0,-853.883:830:412:390:11699:12745 0/1:-688.879,0,-967.683:842:449:371:10932:14126 0/1:-588.881,0,-702.653:653:340:305:9031:10441 0/1:-653.157,0,-715.898:678:342:323:9878:10639 . 0/1:-636.393,0,-667.327:675:330:330:9685:9965 0/1:-822.511,0,-896.316:880:433:433:12708:13299 1/1:-1174.74,-134.055,0:499:4:477:13808:122 . 1/1:-2482.6,-233.85,0:1055:27:989:29465:826 . 0/1:-996.089,0,-865.567:932:417:494:14660:13251 . . . 0/1:-539.942,0,-663.453:573:299:261:8123:9565:299,261 0/1:-808.107,0,-854.278:785:393:385:11981:12521:393,385 0/1:-812.299,0,-866.454:795:399:382:12014:12696:399,382 . 1/1:-1930.84,-191.561,0:732:9:710:22551:281:9,710 . 0/1:-665.805,0,-847.197:696:370:313:10038:12054:370,313 0/1:-768.899,0,-906.103:794:403:370:11468:13082:403,370 0/1:-795.064,0,-896.721:803:408:377:11818:13024:408,377 . 1/1:-2299.79,-228.055,0:882:11:847:26783:341:11,847 . 0/1:-669.359,0,-694.526:647:318:321:9928:10149:318,321 . . . 1/1:-2357.05,-221.488,0:908:16:874:27706:527:16,874 . 0/1:-757.5,0,-803.078:726:364:354:11175:11687:364,354 0/1:-625.437,0,-618.382:579:279:295:9137:9123:279,295 chr7 91651548 . A G 5891.52 . AB=0.486781;ABP=3.98628;AC=1;AF=0.5;AN=2;AO=313;CIGAR=1X;DP=643;DPB=643;DPRA=0;EPP=19.6675;EPPR=17.059;GTI=0;LEN=1;MEANALT=3;MQM=40.7636;MQMR=40.2907;NS=1;NUMALT=1;ODDS=1356.57;PAIRED=0.974441;PAIREDR=0.964856;PAO=0;PQA=0;PQR=0;PRO=0;QA=9166;QR=9571;RO=313;RPL=93;RPP=114.907;RPPR=82.439;RPR=220;RUN=1;SAF=193;SAP=39.9808;SAR=120;SF=0;SRF=171;SRP=8.84483;SRR=142;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs565812419;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.65e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.999e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.1206;dpsi_zscore=-2.367;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.032e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.586e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-613.553,0,-633.796:643:313:313:9166:9571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91652178 . AAACT AAACAACT 8922.36 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=1081;CIGAR=1M3I4M;DP=67762;DPB=1912.6;DPRA=0;EPP=123.586;EPPR=26.1727;GTI=0;LEN=3;MEANALT=30;MQM=40.0907;MQMR=38.875;NS=1;NUMALT=1;ODDS=1317.04;PAIRED=0.993525;PAIREDR=1;PAO=3.5;PQA=103;PQR=103;PRO=3.5;QA=25036;QR=643;RO=24;RPL=315;RPP=411.595;RPPR=3.37221;RPR=766;RUN=1;SAF=589;SAP=21.9107;SAR=492;SF=0,1;SRF=13;SRP=3.37221;SRR=11;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_insertion;AAChange.refGene=AKAP9:NM_005751:exon14:c.4003_4004insAAC:p.K1335delinsKQ,AKAP9:NM_147185:exon14:c.4003_4004insAAC:p.K1335delinsKQ;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4791;esp6500siv2_ea=0.4031;esp6500siv2_all=0.4791;esp6500siv2_ea=0.4031;1000g2015aug_all=0.42472;avsnp147=rs10644111;Kaviar_AF=0.0116816;Kaviar_AC=1806;Kaviar_AN=154602;ExAC_ALL=0.3989;ExAC_AFR=0.6324;ExAC_AMR=0.3095;ExAC_EAS=0.2018;ExAC_FIN=0.3847;ExAC_NFE=0.4010;ExAC_OTH=0.4072;ExAC_SAS=0.4114;CLNALLELEID=188441;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3897;gnomAD_exome_AFR=0.6396;gnomAD_exome_AMR=0.3138;gnomAD_exome_ASJ=0.5474;gnomAD_exome_EAS=0.1935;gnomAD_exome_FIN=0.3903;gnomAD_exome_NFE=0.3893;gnomAD_exome_OTH=0.3932;gnomAD_exome_SAS=0.4077;gnomAD_genome_ALL=0.4374;gnomAD_genome_AFR=0.6258;gnomAD_genome_AMR=0.3266;gnomAD_genome_ASJ=0.5298;gnomAD_genome_EAS=0.1984;gnomAD_genome_FIN=0.3726;gnomAD_genome_NFE=0.3761;gnomAD_genome_OTH=0.3957;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2158.57,-281.63,0:1204:24:1081:25036:643 1/1:-1889.12,-260.847,0:1066:18:937:21724:424 1/1:-1451.47,-198.537,0:824:11:721:16734:313 0/1:-560.48,0,-1067.12:1000:506:403:9469:15346 1/1:-1930.23,-243.119,0:1101:28:980:22594:745 0/1:-654.583,0,-839.943:963:422:458:10445:12671 . . 0/1:-799.468,0,-1223.1:1304:612:582:13220:18172 1/1:-1805.39,-249.369,0:1031:18:902:20777:407 0/1:-645.406,0,-1098.03:1088:538:466:10795:15947 0/1:-580.101,0,-938.022:956:457:424:9636:13761 . . . 0/1:-500.955,0,-898.84:916:437:378:8515:13232 . 1/1:-2011.35,-268.726,0:1141:20:1012:23254:527 . 0/1:-427.828,0,-740.763:758:373:322:7247:10902 0/1:-841.696,0,-1307.76:1316:631:580:13693:19138 . . 1/1:-2024.18,-266.488,0:1175:25:1042:23613:710 0/1:-483.96,0,-938.902:911:456:370:8359:13620 0/1:-537.294,0,-989.302:932:464:401:9030:14216 0/1:-801.504,0,-1393.02:1349:662:574:13358:20121 0/1:-526.937,0,-810.584:826:395:362:8608:11874 . 0/1:-599.675,0,-914.085:967:457:435:9869:13511 0/1:-874.345,0,-1530.16:1497:737:647:14649:22171 . . 0/1:-838.942,0,-984.715:1166:496:560:13130:14881 0/1:-704.552,0,-1321.47:1241:632:509:11863:18961 0/1:-482.616,0,-838.893:802:405:326:7970:12155 0/1:-744.145,0,-1441.68:1358:678:549:12621:20649 . . 0/1:-915.544,0,-1116.06:1287:561:621:14373:16911 0/1:-516.104,0,-813.691:833:396:367:8491:11958 0/1:-639.374,0,-1127.04:1094:549:464:10697:16367 1/1:-1846.86,-272.563,0:1044:9:927:21084:230 0/1:-936.013,0,-1455.17:1454:721:637:15291:21274 0/1:-706.02,0,-1073.04:1129:540:502:11624:15921 0/1:-496.51,0,-888.872:894:440:367:8391:13018 . 0/1:-622.513,0,-945.635:929:458:408:10064:13775 . 0/1:-605.998,0,-1009.23:1029:494:456:10196:14908 . . 1/1:-1840.55,-246.722,0:1042:21:911:21364:570 0/1:-499.882,0,-819.041:842:406:354:8279:12113 1/1:-1322.54,-172.651,0:737:16:655:15315:377 . . . . 1/1:-1253.8,-145.166,0:762:26:658:14912:728 0/1:-697.567,0,-1112.13:1146:545:501:11516:16258 . 0/1:-526.094,0,-1045.88:964:502:399:9057:15085 0/1:-848.014,0,-1408.26:1416:689:616:14081:20617 1/1:-1669.88,-236.495,0:947:13:839:19255:366 1/1:-1164.89,-159.988,0:689:14:594:13583:387 . . . . . . . 0/1:-492.701,0,-979.837:946:475:383:8491:14144 1/1:-1919.4,-256.748,0:1130:23:969:22260:573 0/1:-600.753,0,-1116.13:1055:539:446:10207:16142 . 1/1:-1253.74,-162.64,0:692:14:611:14562:363 0/1:-520.063,0,-741.553:786:365:357:8395:10987 1/1:-1845.85,-247.49,0:1026:18:922:21340:492 0/1:-715.567,0,-1152.42:1126:552:496:11735:16878 0/1:-698.212,0,-1151.39:1134:564:499:11666:16847 0/1:-719.786,0,-854.284:1015:431:491:11346:12939 0/1:-564.42,0,-915.658:950:452:415:9382:13447 . 0/1:-670.128,0,-909.638:971:450:452:10733:13466 0/1:-700.017,0,-1302.99:1251:629:503:11840:18831 1/1:-1204.33,-155.272,0:660:12:590:13926:333 . 1/1:-2284.21,-243.553,0:1349:51:1165:27288:1451 . 0/1:-920.071,0,-954.484:1192:490:604:14170:14740 . . . 0/1:-437.561,0,-596.25:588:277:281:6849:8769:277,281 0/1:-475.232,0,-795.336:659:344:292:7527:11202:344,292 0/1:-509.848,0,-798.291:722:356:315:8074:11393:356,315 . 1/1:-976.734,-114.634,0:495:9:447:11306:258:9,447 . 0/1:-397.643,0,-680.931:598:304:261:6422:9758:304,261 0/1:-436.233,0,-676.116:620:308:279:6938:9749:308,279 0/1:-415.504,0,-589.243:565:266:264:6501:8515:266,264 . 1/1:-1237.76,-134.585,0:631:16:563:14468:458:16,563 . 0/1:-408.282,0,-645.389:575:287:257:6495:9173:287,257 . . . 1/1:-1423.82,-158.042,0:712:18:642:16568:508:18,642 . 0/1:-477.991,0,-698.785:654:321:297:7513:10075:321,297 0/1:-375.239,0,-581.102:530:264:237:5953:8331:264,237 chr7 91652302 . G C 5216.52 . AB=0.435115;ABP=26.9628;AC=1;AF=0.5;AN=2;AO=285;CIGAR=1X;DP=655;DPB=655;DPRA=0;EPP=80.7338;EPPR=119.297;GTI=0;LEN=1;MEANALT=3;MQM=39.3719;MQMR=39.918;NS=1;NUMALT=1;ODDS=1201.15;PAIRED=0.992982;PAIREDR=0.948087;PAO=0;PQA=0;PQR=0;PRO=0;QA=8975;QR=11683;RO=366;RPL=194;RPP=83.8424;RPPR=55.4342;RPR=91;RUN=1;SAF=69;SAP=167.654;SAR=216;SF=0;SRF=125;SRP=82.8445;SRR=241;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon14:c.G4127C:p.S1376T,AKAP9:NM_147185:exon14:c.G4127C:p.S1376T;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000199681;avsnp147=rs144372406;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=188442;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=0.287;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_pred=B;LRT_score=0.668;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=4.1;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.08;CADD_raw=-0.977;CADD_phred=0.018;DANN_score=0.420;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.976;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=-1.51;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=-0.920;phastCons7way_vertebrate=0.090;phastCons20way_mammalian=0.863;SiPhy_29way_logOdds=5.712;GDI_full_10282015=.;dpsi_max_tissue=0.5903;dpsi_zscore=1.219;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-564.697,0,-797.275:655:366:285:8975:11683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91652317 . C T 3913.75 . AB=0.44332;ABP=16.7952;AC=1;AF=0.5;AN=2;AO=219;CIGAR=1X;DP=494;DPB=494;DPRA=0;EPP=116.532;EPPR=54.4822;GTI=0;LEN=1;MEANALT=2;MQM=38.4795;MQMR=40.537;NS=1;NUMALT=1;ODDS=901.174;PAIRED=0.990868;PAIREDR=0.981481;PAO=0;PQA=0;PQR=0;PRO=0;QA=6702;QR=8419;RO=270;RPL=136;RPP=30.8627;RPPR=71.0819;RPR=83;RUN=1;SAF=81;SAP=35.2254;SAR=138;SF=0;SRF=96;SRP=51.9408;SRR=174;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon14:c.C4142T:p.P1381L,AKAP9:NM_147185:exon14:c.C4142T:p.P1381L;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs148726562;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.472e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.091;SIFT_pred=T;Polyphen2_HDIV_score=0.371;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_pred=B;LRT_score=0.183;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=4.1;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.105;CADD_raw=1.635;CADD_phred=14.04;DANN_score=0.668;fathmm-MKL_coding_score=0.051;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.890;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.3;phyloP7way_vertebrate=0.067;phyloP20way_mammalian=0.137;phastCons7way_vertebrate=0.865;phastCons20way_mammalian=0.971;SiPhy_29way_logOdds=10.363;GDI_full_10282015=.;dpsi_max_tissue=-0.5699;dpsi_zscore=-1.159;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.625e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . 0/1:-417.617,0,-585.487:494:270:219:6702:8419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91659216 . G T 9845.36 . AB=0.492918;ABP=3.47166;AC=1;AF=0.5;AN=2;AO=522;CIGAR=1X;DP=1059;DPB=1059;DPRA=0;EPP=71.1662;EPPR=110.942;GTI=0;LEN=1;MEANALT=3;MQM=40.3506;MQMR=40.036;NS=1;NUMALT=1;ODDS=2266.98;PAIRED=0.95977;PAIREDR=0.977273;PAO=0;PQA=0;PQR=0;PRO=0;QA=15168;QR=15498;RO=528;RPL=222;RPP=28.3192;RPPR=3.02675;RPR=300;RUN=1;SAF=279;SAP=8.40154;SAR=243;SF=0;SRF=280;SRP=7.22164;SRR=248;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon15:c.G4156T:p.V1386F,AKAP9:NM_147185:exon15:c.G4156T:p.V1386F;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs762293635;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.241e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189275;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.189;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.106;Polyphen2_HVAR_pred=B;LRT_score=0.672;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=3.92;FATHMM_pred=T;PROVEAN_score=-1.07;PROVEAN_pred=N;VEST3_score=0.333;CADD_raw=0.720;CADD_phred=8.957;DANN_score=0.792;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.899;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=-2.78;phyloP7way_vertebrate=-0.608;phyloP20way_mammalian=-0.204;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.620;SiPhy_29way_logOdds=9.516;GDI_full_10282015=.;dpsi_max_tissue=-0.0946;dpsi_zscore=-0.432;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.956e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-1002.47,0,-1018.07:1059:528:522:15168:15498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91668072 . A G 9940.00 . AB=0.465028;ABP=14.2494;AC=1;AF=0.5;AN=2;AO=492;CIGAR=1X;DP=1058;DPB=1058;DPRA=0;EPP=47.1459;EPPR=66.3153;GTI=0;LEN=1;MEANALT=3;MQM=40.4512;MQMR=40.6477;NS=1;NUMALT=1;ODDS=2288.77;PAIRED=0.97561;PAIREDR=0.959075;PAO=0;PQA=0;PQR=0;PRO=0;QA=15503;QR=17912;RO=562;RPL=328;RPP=121.717;RPPR=55.002;RPR=164;RUN=1;SAF=226;SAP=10.072;SAR=266;SF=0;SRF=240;SRP=28.9907;SRR=322;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon17:c.A4678G:p.I1560V,AKAP9:NM_147185:exon17:c.A4678G:p.I1560V;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.26;SIFT_pred=T;Polyphen2_HDIV_score=0.081;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.05;Polyphen2_HVAR_pred=B;LRT_score=0.684;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.43;MutationAssessor_pred=L;FATHMM_score=4.1;FATHMM_pred=T;PROVEAN_score=0.06;PROVEAN_pred=N;VEST3_score=0.225;CADD_raw=-0.733;CADD_phred=0.061;DANN_score=0.684;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.918;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=-5.81;phyloP7way_vertebrate=-0.984;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.399;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=0.330;GDI_full_10282015=.;dpsi_max_tissue=0.1046;dpsi_zscore=0.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1020.17,0,-1226.71:1058:562:492:15503:17912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91669960 . GTTTTTTTTTTTTTTTTTA GTTTTTTTTTTTTTTTTTTA 94.88 . AB=0.271084;ABP=78.5671;AC=3;AF=0.5;AN=4;AO=45;CIGAR=1M1I18M;DP=313;DPB=177.421;DPRA=0;EPP=28.5372;EPPR=10.2485;GTI=0;LEN=1;MEANALT=21;MQM=19.8;MQMR=23.2;NS=1;NUMALT=1;ODDS=14.4502;PAIRED=0.866667;PAIREDR=0.933333;PAO=4.33333;PQA=72.1667;PQR=72.1667;PRO=4.33333;QA=724;QR=921;RO=30;RPL=30;RPP=13.8677;RPPR=3.0103;RPR=15;RUN=1;SAF=41;SAP=69.0713;SAR=4;SF=0;SRF=25;SRP=31.9633;SRR=5;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.3542;esp6500siv2_ea=0.3501;esp6500siv2_all=0.3542;esp6500siv2_ea=0.3501;1000g2015aug_all=.;avsnp147=rs557077568;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.1743;ExAC_AFR=0.1856;ExAC_AMR=0.0934;ExAC_EAS=0.1776;ExAC_FIN=0.0908;ExAC_NFE=0.1614;ExAC_OTH=0.1686;ExAC_SAS=0.2155;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2619;gnomAD_exome_AFR=0.3145;gnomAD_exome_AMR=0.2599;gnomAD_exome_ASJ=0.3296;gnomAD_exome_EAS=0.3328;gnomAD_exome_FIN=0.2045;gnomAD_exome_NFE=0.2447;gnomAD_exome_OTH=0.2636;gnomAD_exome_SAS=0.2523;gnomAD_genome_ALL=0.4887;gnomAD_genome_AFR=0.5258;gnomAD_genome_AMR=0.4444;gnomAD_genome_ASJ=0.5684;gnomAD_genome_EAS=0.5821;gnomAD_genome_FIN=0.3624;gnomAD_genome_NFE=0.4609;gnomAD_genome_OTH=0.5049;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-23.8815,0,-18.9915:166:30:45:724:921 . . . . . . . . 1/1:-19.9659,-1.15063,0:147:23:39:574:673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91669979 . C A 70.12 . AB=0.431373;ABP=11.3556;AC=22;AF=0.5;AN=44;AO=88;CIGAR=1X;DP=4796;DPB=204;DPRA=0;EPP=55.2243;EPPR=56.2327;GTI=0;LEN=1;MEANALT=3;MQM=18.7159;MQMR=28.2451;NS=1;NUMALT=1;ODDS=13.2005;PAIRED=0.909091;PAIREDR=0.921569;PAO=0;PQA=0;PQR=0;PRO=0;QA=1549;QR=2440;RO=102;RPL=59;RPP=25.2185;RPPR=132.532;RPR=29;RUN=1;SAF=80;SAP=130.93;SAR=8;SF=0;SRF=34;SRP=27.6203;SRR=68;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2017;dpsi_zscore=-0.690;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . 0/1:-34.6801,0,-115.59:204:102:88:1549:2440 . . . . . . . . . . . . . 0/1:-37.0102,0,-140.299:293:150:127:2202:3164 . 0/1:-63.5351,0,-143.794:355:160:158:2593:3512 . . . . . . 0/1:-32.9608,0,-85.8192:202:85:93:1564:1901 . . . 0/1:-31.9987,0,-73.4806:163:77:74:1213:1813 . . 0/1:-39.1911,0,-115.542:250:116:105:1736:2606 0/1:-37.7416,0,-104.83:206:98:90:1365:2209 . . . . . 0/1:-33.2745,0,-106.87:212:106:91:1484:2412 . . . 0/1:-18.4179,0,-88.7522:141:71:54:855:1654 . . . . . . . . 0/1:-34.1978,0,-128.862:269:136:106:1793:2899 0/1:-43.9357,0,-124.522:263:124:110:1790:2818 . . . . . . . . 0/1:-42.5955,0,-99.4696:248:114:106:1699:2495 . . . . . . 0/1:-24.1858,0,-89.9311:144:76:59:969:1737 . . 0/1:-34.9572,0,-135.429:203:108:81:1318:2632 . . 0/1:-31.0387,0,-97.6367:192:91:82:1405:2089 . . . . . 0/1:-32.1097,0,-99.8091:172:81:78:1265:1984 . . 0/1:-35.8847,0,-99.7285:217:104:95:1493:2224 . . . . . 0/1:-29.3807,0,-122.329:218:113:85:1343:2581 . 0/1:-35.9759,0,-66.3751:168:67:72:1138:1479 0/1:-45.683,0,-88.1167:235:100:110:1677:2197 0/1:-36.3043,0,-110.597:221:111:97:1478:2352 0/1:-36.3009,0,-129.995:220:106:94:1457:2592 . . . . . . . . . . . . . . . . . . . . . chr7 91670120 . A C 4388.89 . AB=0.459337;ABP=12.5465;AC=1;AF=0.5;AN=2;AO=305;CIGAR=1X;DP=664;DPB=664;DPRA=0;EPP=16.1744;EPPR=29.5803;GTI=0;LEN=1;MEANALT=2;MQM=33.6033;MQMR=35.7949;NS=1;NUMALT=1;ODDS=1010.58;PAIRED=0.898361;PAIREDR=0.926966;PAO=0;PQA=0;PQR=0;PRO=0;QA=8322;QR=10863;RO=356;RPL=175;RPP=17.4275;RPPR=27.9944;RPR=130;RUN=1;SAF=162;SAP=5.58047;SAR=143;SF=0;SRF=183;SRP=3.62026;SRR=173;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon18:c.A4825C:p.R1609R,AKAP9:NM_147185:exon18:c.A4825C:p.R1609R;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000599042;avsnp147=rs143473598;Kaviar_AF=0.0004592;Kaviar_AC=71;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0004;ExAC_OTH=0.0033;ExAC_SAS=6.076e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1295;dpsi_zscore=0.566;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0022;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 0/1:-450.288,0,-659.289:664:356:305:8322:10863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91691601 . C T 8787.06 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=673;CIGAR=1X;DP=43020;DPB=695;DPRA=0;EPP=53.4252;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=40.3001;MQMR=42;NS=1;NUMALT=1;ODDS=859.784;PAIRED=0.985141;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20469;QR=257;RO=8;RPL=245;RPP=111.064;RPPR=3.0103;RPR=428;RUN=1;SAF=379;SAP=26.3222;SAR=294;SF=0,1;SRF=2;SRP=7.35324;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon24:c.C5778T:p.G1926G,AKAP9:NM_147185:exon24:c.C5778T:p.G1926G;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4277;esp6500siv2_ea=0.4031;esp6500siv2_all=0.4277;esp6500siv2_ea=0.4031;1000g2015aug_all=0.359824;avsnp147=rs10236397;Kaviar_AF=0.3694;Kaviar_AC=57110;Kaviar_AN=154602;ExAC_ALL=0.3795;ExAC_AFR=0.4739;ExAC_AMR=0.3041;ExAC_EAS=0.1746;ExAC_FIN=0.3859;ExAC_NFE=0.4002;ExAC_OTH=0.4015;ExAC_SAS=0.3933;CLNALLELEID=140036;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2125;dpsi_zscore=-0.711;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3753;gnomAD_exome_AFR=0.4719;gnomAD_exome_AMR=0.3079;gnomAD_exome_ASJ=0.5473;gnomAD_exome_EAS=0.1715;gnomAD_exome_FIN=0.3910;gnomAD_exome_NFE=0.3906;gnomAD_exome_OTH=0.3859;gnomAD_exome_SAS=0.3916;gnomAD_genome_ALL=0.3895;gnomAD_genome_AFR=0.4581;gnomAD_genome_AMR=0.3169;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1741;gnomAD_genome_FIN=0.3737;gnomAD_genome_NFE=0.3776;gnomAD_genome_OTH=0.3904;Whole_Blood=Whole_Blood::0.383152::-0.107585;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1743.73,-182.353,0:695:8:673:20469:257 1/1:-1461.99,-163.37,0:557:1:548:17043:21 1/1:-1067.86,-113.402,0:416:4:405:12428:109 0/1:-693.345,0,-589.296:654:292:346:10240:9030 1/1:-1549.42,-156.526,0:624:12:606:18309:332 0/1:-674.102,0,-508.497:627:267:340:9962:7919 . . 0/1:-719.029,0,-707.53:719:355:353:10649:10676 1/1:-1458.64,-163.739,0:580:3:566:17142:86 0/1:-532.952,0,-644.569:591:302:277:8221:9374 0/1:-550.392,0,-563.951:539:264:264:8160:8319 . . . 0/1:-446.535,0,-557.725:509:266:227:6881:8166 . 1/1:-1676.55,-183.007,0:644:4:631:19544:92 . 0/1:-497.301,0,-355.262:424:184:232:7257:5578 0/1:-787.637,0,-744.246:782:374:384:11769:11267 . . 1/1:-1858.73,-189.978,0:730:11:706:21792:291 0/1:-462.533,0,-514.272:524:260:246:7105:7662 0/1:-563.922,0,-493.055:539:255:274:8420:7741 0/1:-654.761,0,-690.142:677:333:324:9943:10173 0/1:-507.592,0,-506.739:507:250:245:7579:7561 . 0/1:-592.029,0,-642.03:608:308:285:8925:9462 0/1:-768.125,0,-848.323:818:405:396:11625:12525 . . 0/1:-631.391,0,-637.16:647:312:321:9623:9517 0/1:-653.462,0,-619.051:635:306:317:9739:9325 0/1:-280.559,0,-293.853:294:148:141:4253:4377 0/1:-825.223,0,-780.611:799:381:399:12339:11701 . . 0/1:-698.65,0,-815.838:761:396:352:10681:12005 0/1:-463.722,0,-409.115:448:214:222:6877:6247 0/1:-617.844,0,-557.178:587:274:304:9174:8450 1/1:-1673.43,-183.272,0:660:4:636:19474:113 0/1:-844.808,0,-967.215:916:465:430:12918:14190 0/1:-638.634,0,-610.133:633:306:311:9501:9086 0/1:-556.535,0,-508.105:532:255:268:8222:7734 . 0/1:-522.285,0,-536.337:518:255:255:7787:7912 . 0/1:-656.047,0,-620.644:622:305:301:9673:9217 . . 1/1:-1551.03,-158.614,0:619:10:603:18250:321 0/1:-514.91,0,-419.325:485:221:255:7635:6512 1/1:-1362.59,-149.118,0:522:4:512:15847:69 . . . . 1/1:-1075.16,-119.342,0:445:4:431:12504:131 0/1:-663.118,0,-691.483:672:333:327:9903:10156 . 0/1:-526.756,0,-537.862:547:268:265:8003:8095 0/1:-841.572,0,-733.506:786:367:404:12294:11116 1/1:-1535.92,-162.358,0:609:6:589:17948:190 1/1:-1020.88,-114.21,0:421:4:410:12128:118 . . . . . . . 0/1:-614.169,0,-576.971:601:282:308:9185:8667 1/1:-1597.69,-170.296,0:643:9:620:18708:214 0/1:-670.262,0,-533.979:601:273:314:9780:8271 . 1/1:-997.067,-105.706,0:394:4:387:11591:135 0/1:-381.932,0,-359.93:391:186:187:5736:5487 1/1:-1749.11,-177.392,0:706:14:682:20593:370 0/1:-622.906,0,-600.01:608:296:303:9219:9022 0/1:-630.19,0,-643.254:646:317:315:9441:9634 0/1:-657.812,0,-611.49:634:298:318:9762:9238 0/1:-442.312,0,-497.439:476:239:217:6756:7304 . 0/1:-538.889,0,-479.961:511:240:259:7979:7232 0/1:-594.67,0,-750.091:689:369:306:9205:11006 1/1:-1041.88,-118.679,0:410:2:406:12160:46 . 1/1:-2179.48,-205.472,0:873:20:839:26005:601 . 0/1:-784.123,0,-814.308:814:405:387:11772:12114 . . . 0/1:-595.634,0,-625.646:584:289:287:8776:9132:289,287 0/1:-755.81,0,-745.117:697:336:351:11065:10870:336,351 0/1:-850.625,0,-854:800:383:399:12463:12521:383,399 . 1/1:-1792.54,-182.691,0:684:7:664:20828:218:7,664 . 0/1:-664.367,0,-728.078:664:329:325:9974:10701:329,325 0/1:-701.586,0,-759.981:698:349:336:10426:11096:349,336 0/1:-581.173,0,-801.065:655:357:284:8915:11365:357,284 . 1/1:-1827.15,-184.535,0:701:8:686:21423:276:8,686 . 0/1:-684.747,0,-655.563:640:304:327:10022:9753:304,327 . . . 1/1:-1894.74,-193.719,0:724:9:707:22203:253:9,707 . 0/1:-735.829,0,-756.857:694:337:345:10812:11003:337,345 0/1:-589.606,0,-581.478:560:268:283:8702:8562:268,283 chr7 91691756 . G T 4685.15 . AB=0.482176;ABP=4.48103;AC=1;AF=0.5;AN=2;AO=257;CIGAR=1X;DP=533;DPB=533;DPRA=0;EPP=3.42432;EPPR=3.96575;GTI=0;LEN=1;MEANALT=2;MQM=39.1712;MQMR=40.2255;NS=1;NUMALT=1;ODDS=1078.8;PAIRED=0.953307;PAIREDR=0.96;PAO=0;PQA=0;PQR=0;PRO=0;QA=7699;QR=8835;RO=275;RPL=163;RPP=43.2375;RPPR=7.94546;RPR=94;RUN=1;SAF=77;SAP=92.649;SAR=180;SF=0;SRF=93;SRP=65.5566;SRR=182;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon24:c.G5933T:p.R1978I,AKAP9:NM_147185:exon24:c.G5933T:p.R1978I;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=523444;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.255;MutationAssessor_pred=M;FATHMM_score=3.5;FATHMM_pred=T;PROVEAN_score=-5.14;PROVEAN_pred=D;VEST3_score=0.535;CADD_raw=5.783;CADD_phred=27.1;DANN_score=0.982;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.156;MetaSVM_pred=T;MetaLR_score=0.068;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.25;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=19.215;GDI_full_10282015=.;dpsi_max_tissue=0.0829;dpsi_zscore=0.428;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-489.299,0,-599.588:533:275:257:7699:8835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91694743 . A G 3728.54 . AB=0.428571;ABP=24.1046;AC=1;AF=0.5;AN=2;AO=204;CIGAR=1X;DP=476;DPB=476;DPRA=0;EPP=12.5903;EPPR=31.1103;GTI=0;LEN=1;MEANALT=3;MQM=40.7353;MQMR=40.8067;NS=1;NUMALT=1;ODDS=858.527;PAIRED=0.995098;PAIREDR=0.981413;PAO=0;PQA=0;PQR=0;PRO=0;QA=6031;QR=8491;RO=269;RPL=86;RPP=13.9102;RPPR=25.6856;RPR=118;RUN=1;SAF=91;SAP=8.16222;SAR=113;SF=0;SRF=109;SRP=24.0066;SRR=160;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon25:c.A6176G:p.E2059G,AKAP9:NM_147185:exon25:c.A6176G:p.E2059G;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000199681;avsnp147=rs73226383;Kaviar_AF=0.000608;Kaviar_AC=94;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0003;ExAC_AMR=8.911e-05;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189286;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.295;MutationAssessor_pred=M;FATHMM_score=3.35;FATHMM_pred=T;PROVEAN_score=-5.52;PROVEAN_pred=D;VEST3_score=0.613;CADD_raw=6.436;CADD_phred=29.8;DANN_score=0.998;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.163;MetaSVM_pred=T;MetaLR_score=0.064;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.62;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.118;GDI_full_10282015=.;dpsi_max_tissue=-0.0696;dpsi_zscore=-0.346;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1515196#"Sudden_cardiac_death";gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-384.551,0,-592.725:476:269:204:6031:8491 . . . . . . . . . . . . . . . . . . . . . . . chr7 91695882 . C T 3823.52 . AB=0.474874;ABP=5.19268;AC=1;AF=0.5;AN=2;AO=189;CIGAR=1X;DP=398;DPB=398;DPRA=0;EPP=3.94093;EPPR=4.08529;GTI=0;LEN=1;MEANALT=3;MQM=40.9683;MQMR=40.9208;NS=1;NUMALT=1;ODDS=880.398;PAIRED=1;PAIREDR=0.960396;PAO=0;PQA=0;PQR=0;PRO=0;QA=5776;QR=6131;RO=202;RPL=93;RPP=3.1137;RPPR=8.21323;RPR=96;RUN=1;SAF=101;SAP=4.95199;SAR=88;SF=0;SRF=118;SRP=15.4371;SRR=84;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs369696294;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.987e-05;ExAC_AFR=9.821e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.557e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0180;dpsi_zscore=0.123;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.46e-05;gnomAD_exome_AFR=6.588e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.555e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-389.546,0,-415.586:398:202:189:5776:6131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91700267 . T C 2925.38 . AB=0.427848;ABP=20.8713;AC=1;AF=0.5;AN=2;AO=169;CIGAR=1X;DP=395;DPB=395;DPRA=0;EPP=22.5536;EPPR=36.5187;GTI=0;LEN=1;MEANALT=3;MQM=36.5976;MQMR=35.4358;NS=1;NUMALT=1;ODDS=673.593;PAIRED=0.846154;PAIREDR=0.857798;PAO=0;PQA=0;PQR=0;PRO=0;QA=5284;QR=7025;RO=218;RPL=60;RPP=33.8606;RPPR=20.5813;RPR=109;RUN=1;SAF=78;SAP=5.18177;SAR=91;SF=0;SRF=84;SRP=27.9125;SRR=134;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon28:c.T6556C:p.S2186P,AKAP9:NM_147185:exon28:c.T6532C:p.S2178P;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0030;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0030;1000g2015aug_all=0.00199681;avsnp147=rs76177450;Kaviar_AF=0.0035575;Kaviar_AC=550;Kaviar_AN=154602;ExAC_ALL=0.0038;ExAC_AFR=0.0002;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0073;ExAC_NFE=0.0055;ExAC_OTH=0.0044;ExAC_SAS=0.0016;CLNALLELEID=189287;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.277;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.906;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.99;FATHMM_pred=T;PROVEAN_score=0.08;PROVEAN_pred=N;VEST3_score=0.247;CADD_raw=2.032;CADD_phred=16.42;DANN_score=0.978;fathmm-MKL_coding_score=0.692;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.940;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=3.2;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=2.641;GDI_full_10282015=.;dpsi_max_tissue=-0.9691;dpsi_zscore=-1.453;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0072;gnomAD_exome_NFE=0.0049;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-306.202,0,-435.654:395:218:169:5284:7025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91707197 . C T 4671.25 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=472;CIGAR=1X;DP=28042;DPB=491;DPRA=0;EPP=37.0362;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=40.1271;MQMR=34.5;NS=1;NUMALT=1;ODDS=577.371;PAIRED=0.980932;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=13222;QR=313;RO=10;RPL=399;RPP=491.941;RPPR=16.9077;RPR=73;RUN=1;SAF=162;SAP=103.781;SAR=310;SF=0,1;SRF=4;SRP=3.87889;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4270;esp6500siv2_ea=0.4004;esp6500siv2_all=0.4270;esp6500siv2_ea=0.4004;1000g2015aug_all=0.36242;avsnp147=rs733957;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;ExAC_ALL=0.4076;ExAC_AFR=0.4948;ExAC_AMR=0.3397;ExAC_EAS=0.2118;ExAC_FIN=0.4016;ExAC_NFE=0.4291;ExAC_OTH=0.4221;ExAC_SAS=0.4055;CLNALLELEID=140038;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3841;dpsi_zscore=1.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3740;gnomAD_exome_AFR=0.4772;gnomAD_exome_AMR=0.3073;gnomAD_exome_ASJ=0.5471;gnomAD_exome_EAS=0.1712;gnomAD_exome_FIN=0.3914;gnomAD_exome_NFE=0.3882;gnomAD_exome_OTH=0.3852;gnomAD_exome_SAS=0.3890;gnomAD_genome_ALL=0.3916;gnomAD_genome_AFR=0.4648;gnomAD_genome_AMR=0.3177;gnomAD_genome_ASJ=0.53;gnomAD_genome_EAS=0.1754;gnomAD_genome_FIN=0.3729;gnomAD_genome_NFE=0.3782;gnomAD_genome_OTH=0.3896;Whole_Blood=Whole_Blood::0.384511::-0.107136;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1116.9,-120.575,0:491:10:472:13222:313 1/1:-941.914,-114.531,0:395:1:389:10949:32 1/1:-709.081,-88.1493,0:303:1:300:8254:27 0/1:-276.298,0,-376.055:352:192:151:4381:5479 1/1:-764.979,-80.6731,0:360:11:342:9232:296 0/1:-357.975,0,-447.125:425:219:201:5631:6602 . . 0/1:-408.123,0,-469.731:464:232:226:6306:6963 1/1:-772.298,-86.9217,0:325:4:316:9019:114 0/1:-257.053,0,-430.745:380:209:161:4335:6261 0/1:-315.453,0,-413.029:389:203:173:4932:6028 . . . 0/1:-245.177,0,-320.997:309:167:139:3959:4840 . 1/1:-950.394,-117.402,0:398:0:390:11057:0 . 0/1:-255.446,0,-303.285:299:149:142:3995:4515 0/1:-420.141,0,-568.721:516:271:234:6555:8287 . . 1/1:-901.584,-102.147,0:377:4:369:10499:114 0/1:-247.302,0,-322.563:316:167:143:3899:4920 0/1:-232.806,0,-466.128:361:221:134:3912:6651 0/1:-330.924,0,-489.015:439:242:187:5289:7099 0/1:-230.124,0,-281.899:294:156:134:3629:4342 . 0/1:-291.101,0,-407.431:385:206:167:4581:5961 0/1:-469.245,0,-608.594:571:306:254:7324:8922 . . 0/1:-396.41,0,-470.027:468:242:218:6211:7047 0/1:-302.244,0,-575.171:477:282:189:5131:8332 0/1:-251.427,0,-275.224:288:142:143:3862:4233 0/1:-493.422,0,-470.708:516:247:260:7509:7205 . . 0/1:-496.029,0,-510.763:545:266:271:7575:7722 0/1:-250.341,0,-281.345:282:138:138:3882:4209 0/1:-265.746,0,-389.746:336:186:144:4240:5561 1/1:-1076.2,-123.77,0:461:6:449:12603:147 0/1:-557.842,0,-638.909:649:329:311:8577:9623 0/1:-287.954,0,-437.441:390:210:170:4591:6357 0/1:-390.292,0,-297.097:372:162:201:5806:4670 . 0/1:-256.531,0,-441.374:373:214:152:4215:6376 . 0/1:-416.828,0,-359.272:404:180:219:6279:5509 . . 1/1:-972.608,-107.779,0:419:7:405:11417:195 0/1:-248.413,0,-332.134:315:161:148:3999:4885 1/1:-645.768,-71.9268,0:272:4:265:7628:103 . . . . 1/1:-601.421,-66.2563,0:259:4:252:7017:122 0/1:-337.329,0,-565.228:495:282:203:5609:8182 . 0/1:-194.106,0,-347.321:296:171:115:3230:4968 0/1:-395.195,0,-474.367:469:237:220:6154:6975 1/1:-942.233,-110.441,0:392:2:386:10992:72 1/1:-708.619,-77.9375,0:306:4:295:8272:136 . . . . . . . 0/1:-252.21,0,-497.377:392:235:155:4259:7012 1/1:-922.173,-105.939,0:378:2:370:10679:68 0/1:-398.14,0,-448.94:444:226:214:6167:6693 . 1/1:-696.982,-83.2618,0:316:5:304:8225:134 0/1:-262.317,0,-307.865:320:160:148:4103:4623 1/1:-758.194,-72.6774,0:349:12:328:9049:335 0/1:-326.125,0,-427.615:416:216:187:5139:6336 0/1:-420.057,0,-446.738:463:225:226:6457:6698 0/1:-396.942,0,-480.485:454:236:213:6112:7039 0/1:-209.262,0,-346.088:318:179:127:3515:5097 . 0/1:-312.243,0,-377.752:376:204:169:4889:5630 0/1:-371.526,0,-498.723:477:257:210:5907:7454 1/1:-589.709,-72.6041,0:250:1:246:6923:21 . 1/1:-1319.93,-133.719,0:577:15:553:15772:439 . 0/1:-510.644,0,-521.819:541:268:269:7744:7860 . . . 0/1:-351.863,0,-294.997:313:140:169:5149:4415:140,169 0/1:-402.622,0,-581.133:468:260:205:6215:8269:260,205 0/1:-412.821,0,-670.015:507:297:210:6424:9422:297,210 . 1/1:-844.838,-74.2302,0:341:9:329:10016:312:9,329 . 0/1:-378.091,0,-508.445:429:229:191:5833:7220:229,191 0/1:-407.194,0,-544.509:446:240:202:6207:7762:240,202 0/1:-332.244,0,-464.076:389:215:166:5113:6607:215,166 . 1/1:-1147.83,-114.745,0:441:6:430:13341:186:6,430 . 0/1:-440.526,0,-379.112:413:192:219:6558:5825:192,219 . . . 1/1:-1323.94,-115.893,0:534:15:515:15858:495:15,515 . 0/1:-402.462,0,-526.822:439:239:200:6139:7519:239,200 0/1:-241.185,0,-414.27:318:187:128:3841:5837:187,128 chr7 91708898 . A G 9573.46 . AB=0.446219;ABP=26.6005;AC=32;AF=0.5;AN=62;AO=419;CIGAR=1X;DP=29873;DPB=939;DPRA=0;EPP=192.074;EPPR=230.929;GTI=0;LEN=1;MEANALT=3;MQM=40.0597;MQMR=40.1012;NS=1;NUMALT=1;ODDS=1711.24;PAIRED=0.97852;PAIREDR=0.972222;PAO=0;PQA=0;PQR=0;PRO=0;QA=12185;QR=15689;RO=504;RPL=177;RPP=24.9064;RPPR=10.6105;RPR=242;RUN=1;SAF=235;SAP=16.49;SAR=184;SF=0,1;SRF=312;SRP=65.0524;SRR=192;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon31:c.A7451G:p.K2484R,AKAP9:NM_147185:exon31:c.A7427G:p.K2476R;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0945;esp6500siv2_ea=0.1273;esp6500siv2_all=0.0945;esp6500siv2_ea=0.1273;1000g2015aug_all=0.0654952;avsnp147=rs35759833;Kaviar_AF=0.109035;Kaviar_AC=16857;Kaviar_AN=154602;ExAC_ALL=0.1090;ExAC_AFR=0.0282;ExAC_AMR=0.0563;ExAC_EAS=0.0247;ExAC_FIN=0.1540;ExAC_NFE=0.1364;ExAC_OTH=0.1111;ExAC_SAS=0.1105;CLNALLELEID=140041;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.552;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.242;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=4.04;FATHMM_pred=T;PROVEAN_score=-0.05;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-1.816;CADD_phred=0.002;DANN_score=0.389;fathmm-MKL_coding_score=0.041;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.927;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-8.74;phyloP7way_vertebrate=-1.681;phyloP20way_mammalian=-0.629;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=5.265;GDI_full_10282015=.;dpsi_max_tissue=-0.0095;dpsi_zscore=-0.034;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1081;gnomAD_exome_AFR=0.0262;gnomAD_exome_AMR=0.0581;gnomAD_exome_ASJ=0.1167;gnomAD_exome_EAS=0.0262;gnomAD_exome_FIN=0.1536;gnomAD_exome_NFE=0.1370;gnomAD_exome_OTH=0.1233;gnomAD_exome_SAS=0.1062;gnomAD_genome_ALL=0.1098;gnomAD_genome_AFR=0.0299;gnomAD_genome_AMR=0.0716;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.0260;gnomAD_genome_FIN=0.1622;gnomAD_genome_NFE=0.1533;gnomAD_genome_OTH=0.1337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-775.804,0,-1066.27:939:504:419:12185:15689 . . 0/1:-972.731,0,-958.894:976:465:485:14484:14428 . . . . . 0/1:-658.293,0,-951.672:824:449:357:10425:13930 0/1:-738.857,0,-755.481:770:372:382:11112:11416 0/1:-1021.21,0,-1318.61:1167:617:520:15678:19164 . 1/1:-4129.11,-439.773,0:1656:20:1610:47941:578 . 0/1:-635.004,0,-783.666:708:358:336:9787:11440 0/1:-647.927,0,-956.552:788:436:337:10151:13856 0/1:-1302.22,0,-1253.36:1280:601:652:19256:18901 . . . 0/1:-805.564,0,-829.602:855:405:426:12347:12649 0/1:-916.703,0,-994.234:966:469:478:13834:14798 . . . 0/1:-650.309,0,-917.336:805:433:358:10260:13419 . 0/1:-958.486,0,-1084.82:1017:506:493:14539:15973 . . . . . . . 0/1:-1065.2,0,-1208.26:1162:588:551:16289:18025 . 0/1:-1016.15,0,-981.937:985:468:501:15037:14785 . . 0/1:-982.199,0,-848.938:932:423:494:14465:13168 . 0/1:-514.811,0,-551.462:546:274:260:7758:8298 . . 0/1:-945.668,0,-955.005:967:454:493:14134:14389 . 0/1:-1072.83,0,-1343.71:1193:616:553:16400:19494 . . . . . . . . . . . . . . . . 0/1:-1207.21,0,-1192.7:1203:564:617:18078:17903 . 0/1:-1058.7,0,-1132.21:1105:544:541:15950:16758 . . . . 0/1:-825.531,0,-1190.81:995:548:428:12938:17153 . . . . . . . . . . 0/1:-1054.55,0,-1224.96:1157:593:544:16069:18050 . 0/1:-1077.96,0,-1185.73:1156:571:569:16420:17678 . 0/1:-705.035,0,-719.065:726:354:360:10629:10816 . 0/1:-817.715,0,-1092.18:936:491:426:12529:15773 . . . . . . . 0/1:-926.096,0,-986.996:914:460:439:13747:14602:460,439 . . 0/1:-800.522,0,-782.982:766:371:382:11780:11624:371,382 . . . 0/1:-814.159,0,-764.318:748:351:380:11872:11359:351,380 0/1:-834.858,0,-806.174:786:378:394:12317:12022:378,394 . . . . 0/1:-920.448,0,-872.026:845:400:428:13352:12832:400,428 . chr7 91712698 . A G 7741.51 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=654;CIGAR=1X;DP=39042;DPB=670;DPRA=0;EPP=92.3129;EPPR=4.45795;GTI=0;LEN=1;MEANALT=3;MQM=39.1774;MQMR=36.3333;NS=1;NUMALT=1;ODDS=860.375;PAIRED=0.977064;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20386;QR=163;RO=6;RPL=273;RPP=41.7382;RPPR=3.0103;RPR=381;RUN=1;SAF=350;SAP=10.036;SAR=304;SF=0,1;SRF=5;SRP=8.80089;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon33:c.A8375G:p.N2792S,AKAP9:NM_147185:exon33:c.A8351G:p.N2784S;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.3561;esp6500siv2_ea=0.4013;esp6500siv2_all=0.3561;esp6500siv2_ea=0.4013;1000g2015aug_all=0.295927;avsnp147=rs6960867;Kaviar_AF=0.353333;Kaviar_AC=54626;Kaviar_AN=154602;ExAC_ALL=0.3593;ExAC_AFR=0.2558;ExAC_AMR=0.2935;ExAC_EAS=0.1751;ExAC_FIN=0.3859;ExAC_NFE=0.3992;ExAC_OTH=0.3891;ExAC_SAS=0.3929;CLNALLELEID=140043;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.402;SIFT_pred=T;Polyphen2_HDIV_score=0.023;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.934;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=0.89;FATHMM_pred=T;PROVEAN_score=-1.81;PROVEAN_pred=N;VEST3_score=0.01;CADD_raw=-0.076;CADD_phred=1.912;DANN_score=0.814;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.923;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-2.13;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=0.106;phastCons7way_vertebrate=0.600;phastCons20way_mammalian=0.896;SiPhy_29way_logOdds=1.523;GDI_full_10282015=.;dpsi_max_tissue=-0.3281;dpsi_zscore=-0.893;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3593;gnomAD_exome_AFR=0.2512;gnomAD_exome_AMR=0.2965;gnomAD_exome_ASJ=0.5456;gnomAD_exome_EAS=0.1714;gnomAD_exome_FIN=0.3911;gnomAD_exome_NFE=0.3899;gnomAD_exome_OTH=0.3761;gnomAD_exome_SAS=0.3913;gnomAD_genome_ALL=0.3294;gnomAD_genome_AFR=0.2494;gnomAD_genome_AMR=0.3067;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1755;gnomAD_genome_FIN=0.3737;gnomAD_genome_NFE=0.3764;gnomAD_genome_OTH=0.3776;Whole_Blood=Whole_Blood::0.356369::-0.118028;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1714.94,-184.863,0:670:6:654:20386:163 1/1:-1348.77,-131.746,0:516:8:498:16037:232 1/1:-1035.23,-104.776,0:408:6:399:12246:194 0/1:-527.672,0,-614.527:555:285:266:8096:9190 1/1:-1540.67,-156.028,0:612:10:597:18234:316 0/1:-551.079,0,-585.232:551:274:271:8295:8745 . . 0/1:-602.981,0,-759.054:641:342:286:9152:11022 1/1:-1216.36,-131.918,0:476:6:465:14338:113 0/1:-447.589,0,-643.222:520:283:230:7090:9238 0/1:-534.371,0,-558.888:531:261:263:8061:8409 . . . 0/1:-430.058,0,-583.131:499:274:222:6834:8706 . 1/1:-1524.29,-165.613,0:585:4:575:17796:131 . 0/1:-456.684,0,-391.472:398:186:210:6617:5925 0/1:-675.769,0,-842.822:726:386:333:10425:12251 . . 1/1:-1667.35,-163.678,0:662:13:640:19800:391 0/1:-430.694,0,-499.664:460:244:214:6687:7599 0/1:-502.224,0,-586.298:520:267:247:7667:8710 0/1:-629.228,0,-694.176:634:324:302:9703:10332 0/1:-360.774,0,-508:432:238:188:5806:7392 . 0/1:-580.494,0,-537.498:546:257:285:8808:8165 0/1:-786.222,0,-844.8:786:397:379:11852:12637 . . 0/1:-528.676,0,-614.802:556:281:265:8069:9030 0/1:-520.096,0,-848.752:670:385:279:8333:12358 0/1:-372.333,0,-602.268:458:265:190:5894:8650 0/1:-827.974,0,-729.675:758:341:404:12318:11154 . . 0/1:-765.604,0,-840.278:782:390:382:11632:12501 0/1:-357.305,0,-478.176:406:220:179:5570:7050 0/1:-506.449,0,-697.793:580:315:256:7928:10175 1/1:-1452.51,-160.291,0:571:4:560:17030:126 0/1:-728.367,0,-855.564:758:395:357:11125:12685 0/1:-600.483,0,-639.546:577:284:281:8981:9328 0/1:-597.238,0,-594.059:596:284:299:9048:9030 . 0/1:-472.517,0,-598.043:505:268:232:7215:8749 . 0/1:-518.741,0,-698.107:570:312:256:7975:9979 . . 1/1:-1696.91,-174.121,0:661:10:644:20137:272 0/1:-362.753,0,-413.365:391:206:183:5585:6256 1/1:-1135.71,-121.391,0:430:3:423:13240:77 . . . . 1/1:-876.417,-86.0015,0:372:9:355:10606:276 0/1:-683.584,0,-816.289:735:390:337:10457:12163 . 0/1:-417.157,0,-425.116:412:202:204:6267:6381 0/1:-747.015,0,-649.47:689:320:358:11053:10029 1/1:-1398.46,-139.719,0:551:9:537:16740:280 1/1:-896.992,-89.0185,0:368:7:352:10778:221 . . . . . . . 0/1:-477.903,0,-681.806:553:306:242:7534:9869 1/1:-1541.41,-166.117,0:589:4:579:18143:105 0/1:-505.492,0,-777.014:607:346:258:8034:11156 . 1/1:-1008.07,-107.74,0:391:3:380:11768:86 0/1:-388.41,0,-394.224:398:191:196:5897:6010 1/1:-1357.09,-134.734,0:564:12:540:16464:385 0/1:-646.128,0,-711.113:640:328:305:9753:10500 0/1:-618.716,0,-684.728:631:317:307:9351:10180 0/1:-505.125,0,-610.774:536:284:248:7721:8996 0/1:-412.098,0,-530.395:467:249:210:6411:7868 . 0/1:-458.774,0,-575.033:505:269:229:7093:8473 0/1:-573.193,0,-626.893:585:297:281:8774:9457 1/1:-899.809,-90.2501,0:347:4:338:10661:144 . 1/1:-1826.54,-141.705,0:778:33:730:22323:1036 . 0/1:-803.19,0,-875.867:815:408:393:12103:12999 . . . 0/1:-456.114,0,-533.498:460:242:208:6762:7726:242,208 0/1:-544.35,0,-762.149:600:331:266:8359:10906:331,266 0/1:-648.743,0,-834.481:685:368:307:9877:11981:368,307 . 1/1:-1209.83,-119.472,0:441:4:434:14103:140:4,434 . 0/1:-501.905,0,-540.483:479:248:230:7443:7924:248,230 0/1:-465.151,0,-687.377:534:300:229:7258:9786:300,229 0/1:-639.708,0,-707.196:616:313:294:9494:10276:313,294 . 1/1:-1432,-143.166,0:535:6:520:16617:172:6,520 . 0/1:-534.021,0,-551.401:508:250:252:7979:8189:250,252 . . . 1/1:-1703.83,-155.241,0:642:12:625:20051:415:12,625 . 0/1:-613.097,0,-578.017:544:261:283:9057:8596:261,283 0/1:-481.337,0,-547.407:468:242:222:7218:7945:242,222 chr7 91713972 . C T 7031.60 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=542;CIGAR=1X;DP=35419;DPB=552;DPRA=0;EPP=86.0871;EPPR=3.32051;GTI=0;LEN=1;MEANALT=3;MQM=38.6033;MQMR=34.1429;NS=1;NUMALT=1;ODDS=700.059;PAIRED=0.95572;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=16919;QR=190;RO=7;RPL=317;RPP=36.9205;RPPR=3.32051;RPR=225;RUN=1;SAF=322;SAP=44.693;SAR=220;SF=0,1;SRF=6;SRP=10.7656;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon34:c.C8665T:p.L2889L,AKAP9:NM_147185:exon34:c.C8641T:p.L2881L;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4410;esp6500siv2_ea=0.4027;esp6500siv2_all=0.4410;esp6500siv2_ea=0.4027;1000g2015aug_all=0.373802;avsnp147=rs10228334;Kaviar_AF=0.373947;Kaviar_AC=57813;Kaviar_AN=154602;ExAC_ALL=0.3832;ExAC_AFR=0.5190;ExAC_AMR=0.3054;ExAC_EAS=0.1741;ExAC_FIN=0.3854;ExAC_NFE=0.4000;ExAC_OTH=0.4024;ExAC_SAS=0.3934;CLNALLELEID=140044;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1387;dpsi_zscore=-0.554;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3779;gnomAD_exome_AFR=0.5195;gnomAD_exome_AMR=0.3088;gnomAD_exome_ASJ=0.5471;gnomAD_exome_EAS=0.1706;gnomAD_exome_FIN=0.3908;gnomAD_exome_NFE=0.3900;gnomAD_exome_OTH=0.3862;gnomAD_exome_SAS=0.3901;gnomAD_genome_ALL=0.4053;gnomAD_genome_AFR=0.5114;gnomAD_genome_AMR=0.3209;gnomAD_genome_ASJ=0.5367;gnomAD_genome_EAS=0.1759;gnomAD_genome_FIN=0.3749;gnomAD_genome_NFE=0.3782;gnomAD_genome_OTH=0.3947;Whole_Blood=Whole_Blood::0.392371::-0.111212;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1412.1,-149.836,0:552:7:542:16919:190 1/1:-1391.27,-148.8,0:563:6:549:16949:207 1/1:-816.477,-89.9457,0:333:3:325:9966:99 0/1:-512.593,0,-620.486:576:302:268:8194:9604 1/1:-1288.82,-137.517,0:517:7:505:15640:196 0/1:-556.302,0,-444.265:507:222:278:8465:7013 . . 0/1:-671.325,0,-598.632:647:304:334:10307:9223 1/1:-1380.12,-161.601,0:547:1:544:16539:27 0/1:-540.864,0,-481.333:520:242:271:8360:7624 0/1:-505.554,0,-476.406:489:234:249:7758:7295 . . . 0/1:-435.161,0,-512.077:486:252:229:7109:7821 . 1/1:-1552.61,-174.487,0:602:3:595:18615:68 . 0/1:-472.069,0,-400.899:455:209:240:7345:6345 0/1:-648.601,0,-626.826:650:317:324:10134:9647 . . 1/1:-1453.34,-156.138,0:565:5:555:17438:143 0/1:-471.503,0,-402.518:447:207:235:7271:6446 0/1:-467.443,0,-488.989:482:238:239:7329:7441 0/1:-594.352,0,-579.807:582:283:295:9222:8933 0/1:-397.847,0,-552.132:476:262:209:6677:8302 . 0/1:-548.423,0,-557.555:537:269:267:8427:8444 0/1:-788.857,0,-747.075:784:384:393:12140:11809 . . 0/1:-572.958,0,-623.81:597:301:288:8895:9527 0/1:-559.618,0,-650.402:627:320:297:9064:9951 0/1:-409.429,0,-533.431:454:246:205:6450:7818 0/1:-681.82,0,-638.225:650:316:330:10401:9958 . . 0/1:-658.459,0,-657.723:656:319:332:10188:10172 0/1:-429.214,0,-442.39:441:218:217:6640:6803 0/1:-522.647,0,-497.224:501:243:252:7887:7624 1/1:-1338.64,-143.659,0:546:7:530:16323:222 0/1:-690.631,0,-856.184:776:415:352:10967:12880 0/1:-483.836,0,-673.831:577:320:248:7815:10132 0/1:-544.059,0,-512.753:528:254:265:8288:7976 . 0/1:-428.39,0,-407.032:428:210:214:6747:6402 . 0/1:-532.78,0,-525.101:538:267:263:8316:8228 . . 1/1:-1253.01,-130.818,0:508:8:492:15405:234 0/1:-507.787,0,-423.986:474:213:251:7932:6900 1/1:-1203.34,-126.363,0:471:5:461:14382:158 . . . . 1/1:-825.054,-90.3198,0:345:4:338:10266:144 0/1:-587.807,0,-713.945:634:338:291:9406:10772 . 0/1:-430.992,0,-452.691:445:215:220:6701:6886 0/1:-723.517,0,-697.566:715:347:360:11286:10955 1/1:-1332.77,-144.418,0:533:5:520:16198:154 1/1:-965.98,-110.879,0:388:3:383:11703:60 . . . . . . . 0/1:-488.411,0,-562.824:543:275:259:7840:8694 1/1:-1429.92,-149.895,0:576:9:561:17422:245 0/1:-483.914,0,-585.336:546:289:254:7780:8871 . 1/1:-939.195,-103.983,0:372:3:366:11329:108 0/1:-408.823,0,-356.204:394:179:206:6481:5674 1/1:-1189.07,-123.74,0:477:6:465:14266:204 0/1:-571.239,0,-474.925:530:241:278:8621:7565 0/1:-603.178,0,-555.393:556:260:291:9122:8385 0/1:-447.658,0,-558.858:522:269:244:7304:8567 0/1:-429.634,0,-552.679:498:272:223:6858:8202 . 0/1:-421.445,0,-413.255:438:214:224:6639:6450 0/1:-692.087,0,-627.662:662:316:339:10788:9821 1/1:-855.256,-96.4225,0:342:2:335:10326:68 . 1/1:-1831.65,-187.431,0:735:13:718:22386:417 . 0/1:-666.853,0,-699.063:677:339:333:10503:10587 . . . 0/1:-245.128,0,-374.842:297:170:123:3886:5505:170,123 0/1:-473.69,0,-327.073:382:163:212:6836:5186:163,212 0/1:-394.196,0,-459.251:413:211:194:6233:6896:211,194 . 1/1:-871.356,-95.8756,0:335:1:327:10351:32:1,327 . 0/1:-356.845,0,-348.325:346:169:171:5524:5450:169,171 0/1:-369.869,0,-419.958:375:198:176:5713:6346:198,176 0/1:-395.876,0,-482.189:422:226:190:6192:7183:226,190 . 1/1:-1045.11,-111.916,0:395:2:387:12551:63:2,387 . 0/1:-304.77,0,-389.311:341:181:153:4859:5836:181,153 . . . 1/1:-1249.96,-133.005,0:488:5:481:15207:150:5,481 . 0/1:-301.688,0,-430.684:349:193:154:4891:6278:193,154 0/1:-217.694,0,-311.021:259:143:110:3535:4694:143,110 chr7 91714015 . G C 3712.53 . AB=0.457426;ABP=10.9609;AC=1;AF=0.5;AN=2;AO=231;CIGAR=1X;DP=505;DPB=505;DPRA=0;EPP=98.9029;EPPR=111.584;GTI=0;LEN=1;MEANALT=3;MQM=34.5498;MQMR=37.5083;NS=1;NUMALT=1;ODDS=854.842;PAIRED=0.948052;PAIREDR=0.979339;PAO=0;PQA=0;PQR=0;PRO=0;QA=7010;QR=7584;RO=242;RPL=65;RPP=98.9029;RPPR=72.4974;RPR=166;RUN=1;SAF=167;SAP=102.738;SAR=64;SF=0;SRF=163;SRP=66.324;SRR=79;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon34:c.G8708C:p.S2903T,AKAP9:NM_147185:exon34:c.G8684C:p.S2895T;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.228;SIFT_pred=T;Polyphen2_HDIV_score=0.301;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.117;Polyphen2_HVAR_pred=B;LRT_score=0.266;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=0.72;FATHMM_pred=T;PROVEAN_score=-0.86;PROVEAN_pred=N;VEST3_score=0.288;CADD_raw=2.529;CADD_phred=19.65;DANN_score=0.385;fathmm-MKL_coding_score=0.883;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.785;MetaSVM_pred=T;MetaLR_score=0.224;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.1;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.441;GDI_full_10282015=.;dpsi_max_tissue=-0.0418;dpsi_zscore=-0.227;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-408.62,0,-479.832:505:242:231:7010:7584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91714911 . C T 22754.76 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=830;CIGAR=1X;DP=103061;DPB=843;DPRA=0;EPP=5.36491;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=39.0181;MQMR=42;NS=1;NUMALT=1;ODDS=1144.77;PAIRED=0.956627;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24889;QR=27;RO=1;RPL=321;RPP=95.4784;RPPR=5.18177;RPR=509;RUN=1;SAF=481;SAP=48.5955;SAR=349;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.9974;esp6500siv2_ea=0.9962;esp6500siv2_all=0.9974;esp6500siv2_ea=0.9962;1000g2015aug_all=0.998802;avsnp147=rs1063242;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.9962;ExAC_AFR=0.9996;ExAC_AMR=0.9985;ExAC_EAS=1;ExAC_FIN=0.9920;ExAC_NFE=0.9963;ExAC_OTH=0.9912;ExAC_SAS=0.9919;CLNALLELEID=140045;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.475;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.725;MutationAssessor_pred=N;FATHMM_score=4.21;FATHMM_pred=T;PROVEAN_score=1.76;PROVEAN_pred=N;VEST3_score=0.22;CADD_raw=-0.130;CADD_phred=1.518;DANN_score=0.633;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.47;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.977;SiPhy_29way_logOdds=1.723;GDI_full_10282015=.;dpsi_max_tissue=-0.1398;dpsi_zscore=-0.557;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9962;gnomAD_exome_AFR=0.9995;gnomAD_exome_AMR=0.9989;gnomAD_exome_ASJ=0.9987;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9917;gnomAD_exome_NFE=0.9963;gnomAD_exome_OTH=0.9945;gnomAD_exome_SAS=0.9922;gnomAD_genome_ALL=0.9959;gnomAD_genome_AFR=0.9997;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9920;gnomAD_genome_NFE=0.9942;gnomAD_genome_OTH=0.9908;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-2102.23,-247.727,0:843:1:830:24889:27 1/1:-2916.44,-338.358,0:1133:0:1124:34053:0 1/1:-2274.4,-268.508,0:917:1:895:26802:14 1/1:-1593.25,-182.369,0:620:1:609:18904:14 1/1:-2354.39,-274.238,0:927:0:911:27752:0 1/1:-2506.98,-297.664,0:1005:1:992:29422:14 1/1:-1865.63,-217.344,0:728:0:722:21991:0 1/1:-2385.6,-276.346,0:930:0:918:27797:0 1/1:-1948.88,-223.063,0:750:0:741:22821:0 1/1:-2673.61,-313.262,0:1061:1:1042:31487:27 1/1:-1935.1,-228.34,0:776:1:764:23047:27 1/1:-2211.99,-261.558,0:880:1:870:26026:14 1/1:-1999.89,-234.704,0:799:1:781:23640:21 1/1:-1758,-208.653,0:710:2:701:20890:35 1/1:-1945.49,-219.999,0:745:1:734:22668:14 1/1:-2969.13,-346.575,0:1179:2:1164:35071:50 1/1:-2097.15,-239.959,0:814:2:804:24577:41 1/1:-3808.69,-438.545,0:1484:1:1460:44817:14 1/1:-2281.52,-269.723,0:908:0:896:26834:0 1/1:-1477.3,-170.424,0:575:1:566:17274:27 1/1:-1941.24,-223.063,0:754:0:741:22740:0 1/1:-2681.91,-317.736,0:1088:1:1065:31737:36 1/1:-1274.79,-149.845,0:516:2:504:15135:28 1/1:-2564.02,-303.49,0:1026:1:1008:30272:14 1/1:-2538.35,-300.407,0:1013:1:1001:29836:14 1/1:-1815.85,-215.527,0:731:1:719:21435:14 1/1:-2483.3,-280.727,0:969:3:949:29085:95 1/1:-2561.84,-307.296,0:1045:1:1024:30438:14 1/1:-1778.45,-204.632,0:700:2:686:21017:28 1/1:-1611.01,-186.437,0:635:1:625:18637:27 1/1:-2121.15,-244.634,0:854:3:833:24878:93 1/1:-2951.34,-344.982,0:1181:2:1164:34892:68 1/1:-2453.04,-282.254,0:953:1:939:28994:32 1/1:-1937.79,-226.654,0:765:1:756:22945:14 1/1:-2331.28,-272.376,0:919:1:908:27433:14 1/1:-2532.15,-288.876,0:991:3:972:29790:64 1/1:-1764.3,-211.097,0:719:1:707:20760:32 1/1:-2519.39,-286.581,0:967:0:952:29528:0 1/1:-2169.27,-252.044,0:860:2:850:25609:50 1/1:-1408.27,-162.857,0:554:0:541:16483:0 1/1:-2731.23,-318.77,0:1076:1:1062:32133:14 1/1:-1751.12,-205.302,0:689:0:682:20391:0 1/1:-2228.89,-259.293,0:881:2:868:25931:48 1/1:-2203.3,-254.101,0:873:3:860:26023:64 1/1:-2956.59,-341.213,0:1158:1:1143:34439:36 1/1:-2397.25,-280.504,0:948:1:935:28093:14 1/1:-2254.6,-266.111,0:894:0:884:26535:0 1/1:-1422.18,-163.76,0:553:0:544:16495:0 1/1:-2035.15,-238.36,0:800:1:795:24175:14 1/1:-2670.99,-307.842,0:1043:2:1029:31429:28 1/1:-2386.48,-276.937,0:941:1:923:27800:14 1/1:-2321.41,-281.71,0:955:1:939:27460:14 1/1:-2695.58,-313.99,0:1075:3:1057:31498:67 1/1:-2491.62,-290.246,0:980:1:964:29332:14 1/1:-2041.53,-242.028,0:822:0:804:24069:0 1/1:-1786.65,-203.314,0:705:3:691:20955:64 1/1:-2266.59,-265.725,0:903:1:888:26972:21 1/1:-1667.52,-202.894,0:686:0:674:20042:0 1/1:-1765.27,-206.754,0:700:1:690:21064:14 1/1:-2135.15,-251.702,0:851:1:836:25161:21 1/1:-1678.18,-196.54,0:670:2:659:19885:28 1/1:-2856.73,-336.44,0:1141:2:1124:33798:28 1/1:-1760.58,-206.283,0:707:1:691:20833:32 1/1:-1680.49,-200.185,0:679:0:665:19683:0 1/1:-2673.95,-306.938,0:1051:3:1032:31584:60 1/1:-2416.87,-277.645,0:957:2:935:28607:50 1/1:-1473.44,-177.746,0:621:2:602:17705:46 1/1:-2557.98,-301.821,0:1021:1:1004:30064:32 1/1:-1798.72,-207.711,0:698:0:690:21191:0 1/1:-2194.24,-259.234,0:889:3:871:25874:67 1/1:-1971.45,-230.232,0:784:1:768:23075:14 1/1:-2624.75,-309.667,0:1043:2:1033:30865:28 1/1:-2669.36,-310.964,0:1044:0:1033:31032:0 1/1:-1576.05,-198.022,0:674:1:661:18684:14 1/1:-2164.62,-253.412,0:861:1:845:25453:14 1/1:-2615.71,-314.276,0:1073:1:1050:31148:32 1/1:-2573.03,-301.03,0:1020:0:1000:30295:0 1/1:-2435.85,-291.397,0:984:0:968:28698:0 1/1:-1576.2,-183.628,0:618:0:610:18619:0 1/1:-1955.99,-221.804,0:755:1:740:22934:14 1/1:-2354.75,-269.121,0:912:0:894:27696:0 1/1:-2354.81,-272.76,0:930:2:909:27586:41 1/1:-2779.75,-325.714,0:1097:0:1082:32850:0 1/1:-2076.17,-251.36,0:847:0:835:24535:0 1/1:-1964.91,-232.629,0:794:2:779:23477:28 1/1:-1970.04,-232.341,0:788:1:775:23088:14 1/1:-1775.07,-207.109,0:692:0:688:20913:0 1/1:-2635,-304.029,0:1040:1:1013:30860:14 1/1:-1415.52,-166.169,0:562:0:552:16863:0 1/1:-2395.41,-273.882,0:924:1:913:27936:14 1/1:-3032.89,-356.118,0:1213:0:1183:35453:0 1/1:-2010.42,-237.101,0:803:2:794:23701:28 1/1:-2758.13,-326.317,0:1099:0:1084:32444:0 1/1:-2101.12,-242.574,0:821:1:809:24459:14 1/1:-2382.04,-276.929,0:971:5:940:28152:92 . 1/1:-2508.81,-271.83,0:916:0:903:28995:0:0,903 1/1:-2758.03,-303.137,0:1021:0:1007:31816:0:0,1007 1/1:-3292.77,-358.473,0:1204:1:1194:37987:14:1,1194 1/1:-1736.89,-189.918,0:640:1:632:20057:14:1,632 1/1:-2468.36,-269.863,0:917:1:906:28600:36:1,906 1/1:-3324.08,-361.784,0:1225:1:1205:38481:14:1,1205 1/1:-2625.29,-286.545,0:964:1:953:30459:14:1,953 1/1:-2837.03,-314.576,0:1055:0:1045:33036:0:0,1045 1/1:-2820.4,-307.352,0:1036:0:1021:32557:0:0,1021 1/1:-2308.32,-252.54,0:848:1:842:26712:14:1,842 1/1:-3203.03,-343.317,0:1161:1:1150:37075:36:1,1150 1/1:-2103.66,-232.341,0:783:1:775:24292:14:1,775 1/1:-2591.79,-287.183,0:967:0:954:30153:0:0,954 1/1:-2496.88,-271.83,0:914:0:903:28714:0:0,903 1/1:-2633.41,-294.407,0:989:0:978:30703:0:0,978 1/1:-2891.38,-316.383,0:1061:0:1051:33303:0:0,1051 1/1:-3300.18,-361.255,0:1227:2:1208:38062:35:2,1208 1/1:-2621.93,-287.785,0:963:0:956:30414:0:0,956 1/1:-2815.72,-306.435,0:1037:1:1025:32579:27:1,1025 1/1:-2167.14,-236.911,0:793:0:787:25171:0:0,787 chr7 91715662 . C T 13566.18 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=1271;CIGAR=1X;DP=70233;DPB=1301;DPRA=0;EPP=17.1582;EPPR=3.87889;GTI=0;LEN=1;MEANALT=3;MQM=40.2604;MQMR=37.7;NS=1;NUMALT=1;ODDS=1681.01;PAIRED=0.946499;PAIREDR=0.9;PAO=0;PQA=0;PQR=0;PRO=0;QA=37952;QR=271;RO=10;RPL=936;RPP=620.113;RPPR=10.8276;RPR=335;RUN=1;SAF=635;SAP=3.01201;SAR=636;SF=0,1;SRF=4;SRP=3.87889;SRR=6;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon37:c.C9145T:p.L3049L,AKAP9:NM_147185:exon37:c.C9121T:p.L3041L;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.3557;esp6500siv2_ea=0.4013;esp6500siv2_all=0.3557;esp6500siv2_ea=0.4013;1000g2015aug_all=0.295727;avsnp147=rs28927678;Kaviar_AF=0.345701;Kaviar_AC=53446;Kaviar_AN=154602;ExAC_ALL=0.3589;ExAC_AFR=0.2531;ExAC_AMR=0.2939;ExAC_EAS=0.1746;ExAC_FIN=0.3857;ExAC_NFE=0.3990;ExAC_OTH=0.3899;ExAC_SAS=0.3927;CLNALLELEID=140046;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.9142;dpsi_zscore=-2.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3593;gnomAD_exome_AFR=0.2493;gnomAD_exome_AMR=0.2965;gnomAD_exome_ASJ=0.5455;gnomAD_exome_EAS=0.1715;gnomAD_exome_FIN=0.3911;gnomAD_exome_NFE=0.3898;gnomAD_exome_OTH=0.3760;gnomAD_exome_SAS=0.3913;gnomAD_genome_ALL=0.3291;gnomAD_genome_AFR=0.2481;gnomAD_genome_AMR=0.3067;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1743;gnomAD_genome_FIN=0.3733;gnomAD_genome_NFE=0.3766;gnomAD_genome_OTH=0.3770;Whole_Blood=Whole_Blood::0.356369::-0.118028;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-3255.59,-364.2,0:1301:10:1271:37952:271 1/1:-2630.55,-277.795,0:1065:13:1025:30913:394 1/1:-1719.18,-195.016,0:709:5:688:20180:154 0/1:-998.935,0,-1136.81:1083:538:522:15382:17059 1/1:-3059.41,-306.549,0:1235:18:1186:36061:636 0/1:-940.643,0,-980:962:464:473:14259:14714 . . 0/1:-1111.08,0,-1322.21:1215:610:580:17160:19540 1/1:-2485.92,-291.039,0:989:1:970:28860:14 0/1:-1058.88,0,-1126.27:1088:538:532:15997:16873 0/1:-987.707,0,-1058.26:1006:487:496:14930:15650 . . . 0/1:-757.8,0,-943.126:874:449:408:11871:14285 . 1/1:-2882.34,-329.262,0:1150:4:1119:33707:100 . 0/1:-651.729,0,-854.143:754:393:343:10293:12659 0/1:-1106.17,0,-1219.44:1150:573:554:16748:17997 . . 1/1:-2752.39,-303.894,0:1117:12:1086:32333:341 0/1:-718.961,0,-853.587:815:408:387:11241:12893 0/1:-928.551,0,-1187.85:1066:560:492:14368:17489 0/1:-1105.13,0,-1241.33:1173:582:565:16908:18433 0/1:-759.287,0,-1023.9:901:475:411:11927:14998 . 0/1:-862.165,0,-1079.02:971:500:457:13532:15887 0/1:-1364.89,0,-1313.35:1319:621:673:20217:19927 . . 0/1:-1003.35,0,-1123.95:1037:523:501:15463:16934 0/1:-1030.06,0,-1490.15:1271:684:565:16480:21657 0/1:-793.934,0,-995.083:909:467:424:12384:14762 0/1:-1059.16,0,-1285.4:1169:606:543:16406:19034 . . 0/1:-1206.44,0,-1495.84:1352:697:630:18791:22048 0/1:-902.601,0,-1051.11:959:487:458:13716:15317 0/1:-866.532,0,-1106.53:947:504:433:13267:16226 1/1:-2690.58,-292.907,0:1067:7:1036:31299:239 0/1:-1267.63,0,-1531.65:1359:694:637:19223:22354 0/1:-953.617,0,-1268.1:1092:587:491:14820:18541 0/1:-979.738,0,-935.867:921:441:463:14555:14143 . 0/1:-796.523,0,-1043.31:904:477:408:12537:15222 . 0/1:-931.864,0,-1013.41:954:482:463:14082:15036 . . 1/1:-2655.43,-264.795,0:1059:18:1029:31380:590 0/1:-912.622,0,-749.49:868:391:459:13650:12003 1/1:-1809.02,-201.414,0:727:6:711:21044:163 . . . . 1/1:-1923.39,-206.497,0:797:12:770:22884:327 0/1:-1015.32,0,-1406.49:1188:631:536:15894:20297 . 0/1:-619.884,0,-1069.45:861:492:349:10212:15527 0/1:-1334.5,0,-1500.79:1396:706:672:20361:22203 1/1:-2594.8,-281.354,0:1038:9:1005:30313:298 1/1:-1594.45,-178.49,0:693:11:665:19021:300 . . . . . . . 0/1:-906.804,0,-1075.25:1004:513:477:14253:16190 1/1:-2948.26,-320.232,0:1211:13:1169:34995:403 0/1:-1321.42,0,-1188.2:1238:571:642:19570:18184 . 1/1:-1971.31,-227.12,0:776:1:764:22794:36 0/1:-705.878,0,-980.956:856:460:378:11167:14209 1/1:-2613.6,-283.058,0:1074:13:1037:30677:374 0/1:-1037.12,0,-1087.38:1088:522:545:15839:16540 0/1:-1092.16,0,-1296.83:1164:598:541:16632:18981 0/1:-1025.42,0,-937.109:983:460:508:15553:14360 0/1:-719.347,0,-1087.22:894:487:385:11343:15867 . 0/1:-766.978,0,-1124.33:938:515:408:12171:16338 0/1:-1109.39,0,-1174.29:1153:560:571:16825:17845 1/1:-1524.53,-172.641,0:627:3:602:17696:108 . 1/1:-3053.67,-291.158,0:1315:36:1239:36927:1074 . 0/1:-1150.75,0,-1229.11:1204:591:586:17576:18479 . . . 0/1:-664.461,0,-822.72:705:371:321:9960:11771:371,321 0/1:-970.067,0,-993.547:927:452:463:14529:14580:452,463 0/1:-1065.88,0,-1159.01:1063:528:520:15916:16991:528,520 . 1/1:-2156.02,-216.726,0:837:11:814:24914:368:11,814 . 0/1:-724.135,0,-1134.13:853:483:362:11277:15926:483,362 0/1:-799.765,0,-977.624:846:438:391:12030:14149:438,391 0/1:-955.154,0,-1030.12:927:466:452:14089:15017:466,452 . 1/1:-2166.16,-230.218,0:824:5:806:24990:157:5,806 . 0/1:-754.556,0,-805.458:734:362:362:11164:11799:362,362 . . . 1/1:-2588.2,-277.88,0:974:5:958:29847:136:5,958 . 0/1:-866.403,0,-929.356:819:410:404:12811:13473:410,404 0/1:-815.667,0,-678.812:688:315:367:11718:10182:315,367 chr7 91718854 . T C 6140.93 . AB=0.448101;ABP=21.4926;AC=1;AF=0.5;AN=2;AO=354;CIGAR=1X;DP=790;DPB=790;DPRA=0;EPP=28.1356;EPPR=35.2007;GTI=0;LEN=1;MEANALT=3;MQM=39.6215;MQMR=39.7672;NS=1;NUMALT=1;ODDS=1414;PAIRED=0.983051;PAIREDR=0.980998;PAO=0;PQA=0;PQR=0;PRO=0;QA=10130;QR=12508;RO=421;RPL=217;RPP=42.2686;RPPR=18.6129;RPR=137;RUN=1;SAF=132;SAP=52.6965;SAR=222;SF=0;SRF=159;SRP=57.7304;SRR=262;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;1000g2015aug_all=.;avsnp147=rs199714035;Kaviar_AF=0.0013971;Kaviar_AC=216;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=9.927e-05;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0018;ExAC_NFE=0.0024;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2280;dpsi_zscore=-0.739;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.26e-05;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR 0/1:-633.79,0,-844.029:790:421:354:10130:12508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91726107 . A G 4782.15 . AB=0.459902;ABP=11.5434;AC=1;AF=0.5;AN=2;AO=281;CIGAR=1X;DP=611;DPB=611;DPRA=0;EPP=4.74902;EPPR=3.86616;GTI=0;LEN=1;MEANALT=3;MQM=37.879;MQMR=37.6808;NS=1;NUMALT=1;ODDS=1101.13;PAIRED=0.960854;PAIREDR=0.967427;PAO=0;PQA=0;PQR=0;PRO=0;QA=8138;QR=9267;RO=307;RPL=163;RPP=18.6588;RPPR=9.80765;RPR=118;RUN=1;SAF=77;SAP=127.65;SAR=204;SF=0;SRF=89;SRP=120.715;SRR=218;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon41:c.A9834G:p.E3278E,AKAP9:NM_147185:exon41:c.A9810G:p.E3270E;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1003;dpsi_zscore=-0.450;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-500.533,0,-590.87:611:307:281:8138:9267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91726576 . C T 6245.16 . AB=0.478892;ABP=5.94379;AC=1;AF=0.5;AN=2;AO=363;CIGAR=1X;DP=758;DPB=758;DPRA=0;EPP=42.2583;EPPR=66.1258;GTI=0;LEN=1;MEANALT=3;MQM=38.3526;MQMR=39.4849;NS=1;NUMALT=1;ODDS=1438;PAIRED=0.947658;PAIREDR=0.978082;PAO=0;PQA=0;PQR=0;PRO=0;QA=10134;QR=10565;RO=365;RPL=208;RPP=19.8138;RPPR=7.3473;RPR=155;RUN=1;SAF=209;SAP=21.1059;SAR=154;SF=0;SRF=215;SRP=28.1458;SRR=150;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=AKAP9:NM_005751:exon41:c.C10303T:p.R3435X,AKAP9:NM_147185:exon41:c.C10279T:p.R3427X;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=11.961;CADD_phred=38;DANN_score=0.985;fathmm-MKL_coding_score=0.726;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=3.66;phyloP7way_vertebrate=-0.660;phyloP20way_mammalian=0.072;phastCons7way_vertebrate=0.930;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=17.508;GDI_full_10282015=.;dpsi_max_tissue=-87.4077;dpsi_zscore=-5.814;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-639.621,0,-684.538:758:365:363:10134:10565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91726927 . A C 9151.75 . AB=0;ABP=0;AC=91;AF=1;AN=140;AO=815;CIGAR=1X;DP=47975;DPB=847;DPRA=0;EPP=102.256;EPPR=40.0654;GTI=0;LEN=1;MEANALT=2;MQM=40.2871;MQMR=37.0645;NS=1;NUMALT=1;ODDS=931.634;PAIRED=0.980368;PAIREDR=0.935484;PAO=0;PQA=0;PQR=0;PRO=0;QA=24515;QR=703;RO=31;RPL=419;RPP=4.41976;RPPR=3.08035;RPR=396;RUN=1;SAF=554;SAP=231.745;SAR=261;SF=0,1;SRF=15;SRP=3.08035;SRR=16;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon42:c.A10426C:p.R3476R,AKAP9:NM_147185:exon42:c.A10402C:p.R3468R;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4463;esp6500siv2_ea=0.4036;esp6500siv2_all=0.4463;esp6500siv2_ea=0.4036;1000g2015aug_all=0.377396;avsnp147=rs1063243;Kaviar_AF=0.379795;Kaviar_AC=58717;Kaviar_AN=154602;ExAC_ALL=0.3846;ExAC_AFR=0.5320;ExAC_AMR=0.3065;ExAC_EAS=0.1747;ExAC_FIN=0.3858;ExAC_NFE=0.4001;ExAC_OTH=0.4015;ExAC_SAS=0.3934;CLNALLELEID=140047;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9982;dpsi_zscore=1.520;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3797;gnomAD_exome_AFR=0.5326;gnomAD_exome_AMR=0.3103;gnomAD_exome_ASJ=0.5474;gnomAD_exome_EAS=0.1715;gnomAD_exome_FIN=0.3910;gnomAD_exome_NFE=0.3909;gnomAD_exome_OTH=0.3881;gnomAD_exome_SAS=0.3919;gnomAD_genome_ALL=0.4072;gnomAD_genome_AFR=0.5204;gnomAD_genome_AMR=0.3210;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1737;gnomAD_genome_FIN=0.3739;gnomAD_genome_NFE=0.3776;gnomAD_genome_OTH=0.3929;Whole_Blood=Whole_Blood::0.395664::-0.110068;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-2065.24,-197.982,0:847:31:815:24515:703 1/1:-1628.78,-171.04,0:688:21:665:19398:431 1/1:-1038.63,-117.047,0:423:7:414:12281:127 0/1:-569.169,0,-645.688:626:323:302:8770:9709 1/1:-1894.3,-180.856,0:812:31:779:22558:720 0/1:-641.703,0,-781.217:721:373:344:9989:11724 . . 0/1:-732.929,0,-827.426:789:406:379:11268:12443 1/1:-1488.01,-167.586,0:617:13:600:17627:189 0/1:-699.13,0,-653.622:682:327:354:10541:9933 0/1:-590.446,0,-694.336:652:341:309:9115:10349 . . . 0/1:-532.366,0,-634.843:619:327:290:8342:9713 . 1/1:-1793.53,-171.935,0:747:28:719:21336:595 . 0/1:-474.267,0,-490.747:498:247:251:7265:7481 0/1:-798.062,0,-858.867:834:412:420:12058:12794 . . 1/1:-1991.87,-217.896,0:820:19:798:23429:333 0/1:-397.545,0,-578.115:522:287:234:6486:8464 0/1:-682.14,0,-623.696:659:315:343:10160:9518 0/1:-838.132,0,-812.347:844:408:433:12712:12287 0/1:-438.629,0,-542.433:521:274:244:7004:8174 . 0/1:-583.236,0,-713.27:648:345:301:9050:10546 0/1:-803.121,0,-1007.93:899:485:409:12490:14972 . . 0/1:-789.723,0,-835.938:799:400:397:11967:12507 0/1:-870.729,0,-802.048:858:410:447:13029:12301 0/1:-643.505,0,-750.09:694:361:332:9813:10961 0/1:-968.38,0,-921.932:930:448:481:14411:14015 . . 0/1:-812.946,0,-987.514:885:470:414:12436:14472 0/1:-546.136,0,-663.812:594:315:278:8331:9720 0/1:-575.74,0,-759.33:664:365:295:8876:11026 1/1:-1597.33,-164.969,0:660:18:640:18849:393 0/1:-819.572,0,-850.557:857:434:421:12469:12980 0/1:-607.736,0,-723.937:680:351:327:9434:10804 0/1:-616.256,0,-642.459:639:320:316:9408:9624 . 0/1:-625.59,0,-556.046:607:278:327:9366:8630 . 0/1:-674.092,0,-710.838:709:361:345:10271:10768 . . 1/1:-1587.41,-164.89,0:663:22:638:18791:381 0/1:-488.808,0,-577.468:552:291:261:7708:8637 1/1:-1353.52,-138.913,0:532:12:519:15878:234 . . . . 1/1:-1170.55,-122.99,0:502:16:484:14201:324 0/1:-788.681,0,-1004.59:890:477:412:12291:14806 . 0/1:-431.712,0,-757.105:624:363:259:7323:11132 0/1:-865.232,0,-960.912:902:467:432:13158:14358 1/1:-1863.06,-188.941,0:767:23:743:21935:489 1/1:-889.02,-85.4739,0:406:22:383:10869:454 . . . . . . . 0/1:-579.795,0,-745.074:678:364:312:9109:10979 1/1:-1791.19,-190.078,0:767:23:742:21292:476 0/1:-707.57,0,-750.727:721:358:360:10650:11221 . 1/1:-1093.7,-85.0119,0:473:25:446:13349:647 0/1:-510.051,0,-766.593:652:365:285:8204:11288 1/1:-1926.85,-197.368,0:801:23:774:22758:553 0/1:-782.787,0,-967.055:865:462:403:12118:14262 0/1:-625.054,0,-840.614:740:399:338:9775:12405 0/1:-492.429,0,-718.445:620:352:268:7844:10682 0/1:-466.768,0,-709.319:591:330:260:7508:10238 . 0/1:-545.274,0,-571.694:569:280:286:8322:8590 0/1:-939.885,0,-644.659:805:340:462:13616:10323 1/1:-1048.81,-115.203,0:425:8:417:12335:141 . 1/1:-2142.63,-204.706,0:910:36:873:25670:817 . 0/1:-830.409,0,-856.305:846:419:425:12690:12807 . . . 0/1:-641.485,0,-602.877:591:291:298:9494:8942:291,298 0/1:-840.223,0,-607.034:688:303:385:11977:9322:303,385 0/1:-689.039,0,-869.177:749:410:338:10559:12715:410,338 . 1/1:-1515.56,-149.906,0:586:18:567:17798:309:18,567 . 0/1:-720.705,0,-596.038:632:295:334:10506:9082:295,334 0/1:-697.735,0,-780.722:714:370:342:10588:11456:370,342 0/1:-529.802,0,-674.584:575:315:258:8118:9769:315,258 . 1/1:-1749.32,-172.957,0:672:13:657:20488:358:13,657 . 0/1:-557.386,0,-534.775:530:262:267:8228:8135:262,267 . . . 1/1:-1895.76,-195.436,0:730:15:714:22015:289:15,714 . 0/1:-598.663,0,-657.325:588:305:283:8917:9535:305,283 0/1:-635.966,0,-577.615:575:273:300:9382:8631:273,300 chr7 91726960 . G A 7677.69 . AB=0.493917;ABP=3.27447;AC=1;AF=0.5;AN=2;AO=406;CIGAR=1X;DP=822;DPB=822;DPRA=0;EPP=93.3992;EPPR=87.3248;GTI=0;LEN=1;MEANALT=3;MQM=39.3522;MQMR=40.5783;NS=1;NUMALT=1;ODDS=1767.85;PAIRED=0.975369;PAIREDR=0.982323;PAO=0;PQA=0;PQR=0;PRO=0;QA=12028;QR=11962;RO=396;RPL=230;RPP=18.6064;RPPR=33.038;RPR=176;RUN=1;SAF=242;SAP=35.5503;SAR=164;SF=0;SRF=257;SRP=79.3628;SRR=139;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon42:c.G10459A:p.E3487K,AKAP9:NM_147185:exon42:c.G10435A:p.E3479K;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000199681;avsnp147=rs61757664;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0033;ExAC_SAS=0.0004;CLNALLELEID=189300;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.058;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.88;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.931;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=3.93;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.657;CADD_raw=5.335;CADD_phred=25.8;DANN_score=0.998;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.092;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.57;phyloP7way_vertebrate=0.697;phyloP20way_mammalian=0.831;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=15.891;GDI_full_10282015=.;dpsi_max_tissue=-2.0100;dpsi_zscore=-1.904;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0028;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0022;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-789.557,0,-796.271:822:396:406:12028:11962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91727479 . A T 8893.07 . AB=0.463698;ABP=14.8346;AC=1;AF=0.5;AN=2;AO=479;CIGAR=1X;DP=1033;DPB=1033;DPRA=0;EPP=109.131;EPPR=168.629;GTI=0;LEN=1;MEANALT=3;MQM=39.9248;MQMR=40.755;NS=1;NUMALT=1;ODDS=2047.7;PAIRED=0.991649;PAIREDR=0.987296;PAO=0;PQA=0;PQR=0;PRO=0;QA=14077;QR=16196;RO=551;RPL=265;RPP=14.8015;RPPR=66.5741;RPR=214;RUN=1;SAF=220;SAP=9.90552;SAR=259;SF=0;SRF=266;SRP=4.43299;SRR=285;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon43:c.A10664T:p.D3555V,AKAP9:NM_147185:exon43:c.A10640T:p.D3547V;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000599042;avsnp147=rs139046510;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=188463;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.827;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.08;MutationAssessor_pred=M;FATHMM_score=3.93;FATHMM_pred=T;PROVEAN_score=-4.6;PROVEAN_pred=D;VEST3_score=0.525;CADD_raw=6.273;CADD_phred=29.0;DANN_score=0.970;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.176;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.74;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.681;GDI_full_10282015=.;dpsi_max_tissue=-0.2738;dpsi_zscore=-0.813;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=6.547e-05;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0031;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-910.964,0,-1097.41:1033:551:479:14077:16196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91729127 . A G 10196.19 . AB=0.505848;ABP=3.31507;AC=5;AF=0.5;AN=10;AO=519;CIGAR=1X;DP=5458;DPB=1026;DPRA=0;EPP=10.0435;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.5434;MQMR=39.9877;NS=1;NUMALT=1;ODDS=2241.17;PAIRED=0.969171;PAIREDR=0.967213;PAO=0;PQA=0;PQR=0;PRO=0;QA=15636;QR=15075;RO=488;RPL=276;RPP=7.56663;RPPR=30.0825;RPR=243;RUN=1;SAF=182;SAP=103.53;SAR=337;SF=0,1;SRF=183;SRP=69.2402;SRR=305;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon44:c.A10840G:p.M3614V,AKAP9:NM_147185:exon44:c.A10816G:p.M3606V;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0088;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0088;1000g2015aug_all=0.00678914;avsnp147=rs34327395;Kaviar_AF=0.0073479;Kaviar_AC=1136;Kaviar_AN=154602;ExAC_ALL=0.0072;ExAC_AFR=0.0088;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0099;ExAC_OTH=0.0143;ExAC_SAS=0.0021;CLNALLELEID=140048;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.288;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=1.25;MutationAssessor_pred=L;FATHMM_score=4.06;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_pred=N;VEST3_score=0.094;CADD_raw=1.252;CADD_phred=12.02;DANN_score=0.882;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.902;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.11;phyloP7way_vertebrate=0.075;phyloP20way_mammalian=0.196;phastCons7way_vertebrate=0.289;phastCons20way_mammalian=0.974;SiPhy_29way_logOdds=5.656;GDI_full_10282015=.;dpsi_max_tissue=0.2992;dpsi_zscore=0.890;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0070;gnomAD_exome_AFR=0.0085;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0.0089;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0104;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0028;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0097;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0093;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-1042.59,0,-990.854:1026:488:519:15636:15075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1271.48,0,-1437.15:1332:676:651:19318:21547 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-717.148,0,-878.924:788:407:373:11121:12964 . . . . . . . . . 0/1:-1219.94,0,-1322.96:1189:611:568:18159:19379:611,568 . . . . . . . . . . . . . . . . . . 0/1:-1106.81,0,-1278.18:1123:582:527:16611:18729:582,527 chr7 91735104 . A C 8923.17 . AB=0.481986;ABP=5.90489;AC=1;AF=0.5;AN=2;AO=495;CIGAR=1X;DP=1027;DPB=1027;DPRA=0;EPP=40.9518;EPPR=69.053;GTI=0;LEN=1;MEANALT=3;MQM=37.1475;MQMR=37.7816;NS=1;NUMALT=1;ODDS=2054.64;PAIRED=0.945455;PAIREDR=0.929119;PAO=0;PQA=0;PQR=0;PRO=0;QA=15258;QR=16350;RO=522;RPL=276;RPP=17.2631;RPPR=41.348;RPR=219;RUN=1;SAF=94;SAP=416.463;SAR=401;SF=0;SRF=123;SRP=319.896;SRR=399;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00139776;avsnp147=rs146124634;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=9.713e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0006;ExAC_OTH=0.0011;ExAC_SAS=0.0036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5533;dpsi_zscore=-1.144;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0036;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-950.056,0,-1047.73:1027:522:495:15258:16350 . . . . . . . . . . . . . . . . . . . . . . chr7 91736709 . T C 10082.80 . AB=0.456294;ABP=21.9917;AC=1;AF=0.5;AN=2;AO=522;CIGAR=1X;DP=1144;DPB=1144;DPRA=0;EPP=288.563;EPPR=408.779;GTI=0;LEN=1;MEANALT=3;MQM=38.7586;MQMR=39.5057;NS=1;NUMALT=1;ODDS=2321.64;PAIRED=0.963602;PAIREDR=0.97561;PAO=0;PQA=0;PQR=0;PRO=0;QA=16630;QR=19913;RO=615;RPL=195;RPP=75.4926;RPPR=87.839;RPR=327;RUN=1;SAF=295;SAP=22.2457;SAR=227;SF=0;SRF=345;SRP=22.8713;SRR=270;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon48:c.T11519C:p.I3840T,AKAP9:NM_147185:exon48:c.T11495C:p.I3832T;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs145675748;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=9.888e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=188465;CLNDN=Long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.511;SIFT_pred=T;Polyphen2_HDIV_score=0.022;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.179;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=4.11;FATHMM_pred=T;PROVEAN_score=0.66;PROVEAN_pred=N;VEST3_score=0.21;CADD_raw=2.077;CADD_phred=16.70;DANN_score=0.883;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.937;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.42;phyloP7way_vertebrate=-0.068;phyloP20way_mammalian=0.078;phastCons7way_vertebrate=0.920;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=10.565;GDI_full_10282015=.;dpsi_max_tissue=0.1823;dpsi_zscore=0.688;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=6.457e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1056.99,0,-1345.1:1144:615:522:16630:19913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 91737825 . CTGAT CT 6255.76 . AB=0.419479;ABP=76.4474;AC=1;AF=0.5;AN=2;AO=547;CIGAR=1M3D1M;DP=1304;DPB=975;DPRA=0;EPP=153.961;EPPR=141.188;GTI=0;LEN=3;MEANALT=31;MQM=35.6417;MQMR=40.0352;NS=1;NUMALT=1;ODDS=1440.44;PAIRED=0.959781;PAIREDR=0.964832;PAO=14;PQA=159;PQR=65;PRO=9;QA=11990;QR=19606;RO=654;RPL=245;RPP=15.9081;RPPR=12.6923;RPR=302;RUN=1;SAF=303;SAP=16.8291;SAR=244;SF=0;SRF=337;SRP=4.33842;SRR=317;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=AKAP9:NM_005751:exon49:c.11566_11568del:p.3856_3856del,AKAP9:NM_147185:exon49:c.11542_11544del:p.3848_3848del;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-653.762,0,-1329.51:1304:654:547:11990:19606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 92077201 . GGG GGA,CGG 136.74 . AB=0;ABP=0;AC=1,0;AF=0;AN=20;AO=8;CIGAR=1X;DP=1231;DPB=109;DPRA=0;EPP=20.3821;EPPR=81.1833;GTI=0;LEN=1;MEANALT=2;MQM=29.5;MQMR=33.41;NS=1;NUMALT=1;ODDS=112.961;PAIRED=0.875;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=122;QR=2810;RO=100;RPL=2;RPP=7.35324;RPPR=61.7269;RPR=6;RUN=1;SAF=2;SAP=7.35324;SAR=6;SF=1;SRF=58;SRP=8.56927;SRR=42;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=GATAD1:NM_021167:exon1:c.160delG:p.G54fs;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G158C:p.G53A;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.485;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.215;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-2.99;FATHMM_pred=D;PROVEAN_score=0.03;PROVEAN_pred=N;VEST3_score=0.178;CADD_raw=-1.144;CADD_phred=0.008;DANN_score=0.667;fathmm-MKL_coding_score=0.430;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.316;MetaSVM_pred=T;MetaLR_score=0.550;MetaLR_pred=D;integrated_fitCons_score=0.243;integrated_confidence_value=2;GERP++_RS=3.23;phyloP7way_vertebrate=-0.061;phyloP20way_mammalian=0.855;phastCons7way_vertebrate=0.810;phastCons20way_mammalian=0.837;SiPhy_29way_logOdds=11.737;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-201.813:109:100:.,8:.,122:2810:100,8 . . 0/1:-93.1693,0,-82.9182,.,.,.:116:51:53,.:1541,.:1438:51,53 0/0:.,.,.,.,.,-294.701:144:133:.,11:.,194:3943:133,11 0/0:.,.,.,.,.,-290.927:146:135:.,10:.,177:3812:135,10 . . . 0/0:.,.,.,.,.,-201.571:106:98:.,6:.,94:2688:98,6 0/0:.,.,.,.,.,-308.327:145:133:.,11:.,187:3915:133,11 0/0:.,.,.,.,.,-197.45:108:98:.,9:.,166:2631:98,9 0/0:.,.,.,.,.,-237.834:119:112:.,6:.,102:3106:112,6 . . 0/0:.,.,.,.,.,-291.012:145:135:.,8:.,140:3750:135,8 . . 0/0:.,.,.,.,.,-181.735:93:86:.,7:.,114:2421:86,7 chr7 92077202 . GGGCA GAGCA,CCCCC,CGGCA,GGGCC,TGGCA,CGCCC 205.84 . AB=0;ABP=0;AC=1,0,0,0,0,0;AF=0;AN=30;AO=4;CIGAR=1X;DP=1712;DPB=78;DPRA=0;EPP=11.6962;EPPR=19.1893;GTI=0;LEN=1;MEANALT=2;MQM=23.5;MQMR=33.6761;NS=1;NUMALT=1;ODDS=88.3771;PAIRED=0.75;PAIREDR=0.802817;PAO=0;PQA=0;PQR=0;PRO=0;QA=67;QR=2163;RO=71;RPL=1;RPP=5.18177;RPPR=76.4428;RPR=3;RUN=1;SAF=1;SAP=5.18177;SAR=3;SF=1;SRF=38;SRP=3.7749;SRR=33;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G160A:p.G54S\x3bGATAD1:NM_021167:exon1:c.G160A:p.G54S;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0816693;avsnp147=rs10281879;Kaviar_AF=0.0222572;Kaviar_AC=3441;Kaviar_AN=154602;ExAC_ALL=0.2654;ExAC_AFR=0.35;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.2308;ExAC_OTH=0.5;ExAC_SAS=0.2614;CLNALLELEID=54990;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.714;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.056;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-3.49;FATHMM_pred=D;PROVEAN_score=0.5;PROVEAN_pred=N;VEST3_score=0.198;CADD_raw=-0.493;CADD_phred=0.228;DANN_score=0.898;fathmm-MKL_coding_score=0.288;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.877;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.243;integrated_confidence_value=2;GERP++_RS=-1.05;phyloP7way_vertebrate=0.897;phyloP20way_mammalian=0.855;phastCons7way_vertebrate=0.819;phastCons20way_mammalian=0.817;SiPhy_29way_logOdds=1.105;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1709;gnomAD_exome_AFR=0.3846;gnomAD_exome_AMR=0.4038;gnomAD_exome_ASJ=0.4474;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.1593;gnomAD_exome_NFE=0.2080;gnomAD_exome_OTH=0.2;gnomAD_exome_SAS=0.2917;gnomAD_genome_ALL=0.1091;gnomAD_genome_AFR=0.0806;gnomAD_genome_AMR=0.0840;gnomAD_genome_ASJ=0.1433;gnomAD_genome_EAS=0.0340;gnomAD_genome_FIN=0.1303;gnomAD_genome_NFE=0.1293;gnomAD_genome_OTH=0.1144;Whole_Blood=.;Liver=Liver::0.129139::-0.462891;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=GATAD1:NM_021167:exon1:c.159_163CCCCC;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G159C:p.G53G;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=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GGCA AGCA,GCCC,CCCC,CGCA,GGCC 117.03 . AB=0.542373;ABP=3.93042;AC=14,0,0,0,0;AF=0.5;AN=54;AO=32;CIGAR=1X;DP=2067;DPB=59;DPRA=0;EPP=3.28173;EPPR=4.1599;GTI=0;LEN=1;MEANALT=2;MQM=19.8438;MQMR=28.2353;NS=1;NUMALT=1;ODDS=12.3536;PAIRED=0.875;PAIREDR=0.705882;PAO=0;PQA=0;PQR=0;PRO=0;QA=704;QR=474;RO=17;RPL=28;RPP=42.0968;RPPR=31.7504;RPR=4;RUN=1;SAF=11;SAP=9.79615;SAR=21;SF=0,1;SRF=9;SRP=3.13803;SRR=8;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV\x3bnonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G160A:p.G54S\x3bGATAD1:NM_021167:exon1:c.G160A:p.G54S;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0816693;avsnp147=rs10281879;Kaviar_AF=0.0222572;Kaviar_AC=3441;Kaviar_AN=154602;ExAC_ALL=0.2654;ExAC_AFR=0.35;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.2308;ExAC_OTH=0.5;ExAC_SAS=0.2614;CLNALLELEID=54990;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.714;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.056;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-3.49;FATHMM_pred=D;PROVEAN_score=0.5;PROVEAN_pred=N;VEST3_score=0.198;CADD_raw=-0.493;CADD_phred=0.228;DANN_score=0.898;fathmm-MKL_coding_score=0.288;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.877;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.243;integrated_confidence_value=2;GERP++_RS=-1.05;phyloP7way_vertebrate=0.897;phyloP20way_mammalian=0.855;phastCons7way_vertebrate=0.819;phastCons20way_mammalian=0.817;SiPhy_29way_logOdds=1.105;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1709;gnomAD_exome_AFR=0.3846;gnomAD_exome_AMR=0.4038;gnomAD_exome_ASJ=0.4474;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.1593;gnomAD_exome_NFE=0.2080;gnomAD_exome_OTH=0.2;gnomAD_exome_SAS=0.2917;gnomAD_genome_ALL=0.1091;gnomAD_genome_AFR=0.0806;gnomAD_genome_AMR=0.0840;gnomAD_genome_ASJ=0.1433;gnomAD_genome_EAS=0.0340;gnomAD_genome_FIN=0.1303;gnomAD_genome_NFE=0.1293;gnomAD_genome_OTH=0.1144;Whole_Blood=.;Liver=Liver::0.129139::-0.462891;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=GATAD1:NM_021167:exon1:c.161_163CCC;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=GATAD1:NM_021167:exon1:c.160_163CCCC;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;M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GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:.,.,-14.7501,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:59:17:32,.,.,.,.:704,.,.,.,.:474 . . . . . 0/1:.,.,-14.8466,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:98:20:62,.,.,.,.:1249,.,.,.,.:575 . . . . . . . . . . 0/1:.,.,-2.25554,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:3:1:2,.,.,.,.:68,.,.,.,.:32 . . . . . . . . . . . . . . . . . . . . 0/1:.,.,-5.31585,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:14:6:7,.,.,.,.:165,.,.,.,.:155 . . . 0/1:.,.,-2.83966,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:25:5:16,.,.,.,.:428,.,.,.,.:159 . . . . . 0/1:.,.,-3.67994,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:15:6:9,.,.,.,.:286,.,.,.,.:160 . . . . . . . . . . . . 0/1:.,.,-1.48446,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:26:4:18,.,.,.,.:447,.,.,.,.:103 . . . 0/1:.,.,-12.7458,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:27:14:11,.,.,.,.:270,.,.,.,.:388 . . . . . . 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:10:0:6,.,.,.,.:186,.,.,.,.:0 . . . . 0/1:.,.,-3.20991,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:14:6:7,.,.,.,.:200,.,.,.,.:173 . . . . 0/1:.,.,-10.9217,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:24:11:10,.,.,.,.:288,.,.,.,.:319 . . 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-155.939,.,.,.,.,.,.:77:70:.,.,.,7,.:.,.,.,122,.:2155:70,7 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-212.69,.,.,.,.,.,.:108:101:.,.,.,7,.:.,.,.,111,.:2911:101,7 0/1:.,.,-109.9,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:172:76:90,.,.,.,.:2528,.,.,.,.:2038:76,90 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-39.7163,.,.,.,.,.,.:19:16:.,.,.,2,.:.,.,.,31,.:494:16,2 . 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-289.329,.,.,.,.,.,.:141:129:.,.,.,11,.:.,.,.,189,.:3832:129,11 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-260.07,.,.,.,.,.,.:144:126:.,.,.,17,.:.,.,.,303,.:3621:126,17 . 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-193.865,.,.,.,.,.,.:93:84:.,.,.,7,.:.,.,.,124,.:2541:84,7 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-217.828,.,.,.,.,.,.:119:104:.,.,.,12,.:.,.,.,206,.:3052:104,12 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-198.17,.,.,.,.,.,.:105:97:.,.,.,7,.:.,.,.,111,.:2745:97,7 0/0:0,.,.,.,.,.,-30.166,.,.,-225.918,.,.,.,.,.,-27.8513,.,.,-228.579,.,-224.291:123:95:.,.,7,.,9:.,.,123,.,166:2815:95,7,9 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-206.001,.,.,.,.,.,.:106:99:.,.,.,7,.:.,.,.,117,.:2721:99,7 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-233.662,.,.,.,.,.,.:118:109:.,.,.,7,.:.,.,.,111,.:3117:109,7 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-205.417,.,.,.,.,.,.:102:93:.,.,.,7,.:.,.,.,129,.:2773:93,7 0/0:0,.,.,-13.8205,.,-115.293,-12.1861,.,-112.135,-113.123,.,.,.,.,.,.,.,.,.,.,.:70:50:.,5,6,.,.:.,90,117,.,.:1444:50,5,6 0/0:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-283.963,.,.,.,.,.,.:141:127:.,.,.,13,.:.,.,.,212,.:3723:127,13 0/1:.,.,-79.7309,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:114:45:61,.,.,.,.:1714,.,.,.,.:1399:45,61 . . chr7 92078092 . T G 5131.50 . AB=0.403073;ABP=72.0457;AC=1;AF=0.5;AN=2;AO=341;CIGAR=1X;DP=846;DPB=846;DPRA=0;EPP=140.615;EPPR=160.42;GTI=0;LEN=1;MEANALT=3;MQM=39.1496;MQMR=39.8594;NS=1;NUMALT=1;ODDS=1181.57;PAIRED=0.979472;PAIREDR=0.965863;PAO=0;PQA=0;PQR=0;PRO=0;QA=9287;QR=14676;RO=498;RPL=198;RPP=22.2734;RPPR=4.12656;RPR=143;RUN=1;SAF=205;SAP=33.3281;SAR=136;SF=0;SRF=267;SRP=8.66136;SRR=231;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon2:c.T276G:p.S92S;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs143082866;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=54991;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.9409;dpsi_zscore=2.222;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-546.364,0,-1007.92:846:498:341:9287:14676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 92085828 . G A 5492.82 . AB=0.487465;ABP=3.99018;AC=1;AF=0.5;AN=2;AO=350;CIGAR=1X;DP=718;DPB=718;DPRA=0;EPP=4.22632;EPPR=7.67993;GTI=0;LEN=1;MEANALT=3;MQM=36.6886;MQMR=35.9174;NS=1;NUMALT=1;ODDS=1264.77;PAIRED=0.934286;PAIREDR=0.893805;PAO=0;PQA=0;PQR=0;PRO=0;QA=9334;QR=10460;RO=339;RPL=124;RPP=67.5589;RPPR=164.948;RPR=226;RUN=1;SAF=162;SAP=7.20434;SAR=188;SF=0;SRF=163;SRP=4.09283;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon5:c.G762A:p.G254G;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0034;1000g2015aug_all=0.000798722;avsnp147=rs139637606;Kaviar_AF=0.001824;Kaviar_AC=282;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0006;ExAC_AMR=0.0005;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0021;ExAC_OTH=0.0022;ExAC_SAS=0.0041;CLNALLELEID=141151;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=5.813e-05;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0026;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0042;gnomAD_genome_ALL=0.0021;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0038;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-564.018,0,-625.71:718:339:350:9334:10460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128470838 . C T 8730.23 . AB=0.467717;ABP=14.5071;AC=23;AF=0.5;AN=44;AO=594;CIGAR=1X;DP=26287;DPB=1270;DPRA=0;EPP=74.6616;EPPR=10.0234;GTI=0;LEN=1;MEANALT=3;MQM=31.7643;MQMR=33.1802;NS=1;NUMALT=1;ODDS=1920.66;PAIRED=0.90404;PAIREDR=0.897927;PAO=0;PQA=0;PQR=0;PRO=0;QA=16643;QR=19328;RO=627;RPL=301;RPP=3.24426;RPPR=26.8688;RPR=293;RUN=1;SAF=354;SAP=50.5195;SAR=240;SF=0,1;SRF=369;SRP=45.6813;SRR=258;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon1:c.C147T:p.H49H,FLNC:NM_001458:exon1:c.C147T:p.H49H;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0937;esp6500siv2_ea=0.0851;esp6500siv2_all=0.0937;esp6500siv2_ea=0.0851;1000g2015aug_all=0.110024;avsnp147=rs3734972;Kaviar_AF=0.091907;Kaviar_AC=14209;Kaviar_AN=154602;ExAC_ALL=0.0945;ExAC_AFR=0.1069;ExAC_AMR=0.0872;ExAC_EAS=0.1796;ExAC_FIN=0.0844;ExAC_NFE=0.0860;ExAC_OTH=0.0917;ExAC_SAS=0.0856;CLNALLELEID=134527;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0933;gnomAD_exome_AFR=0.1037;gnomAD_exome_AMR=0.0876;gnomAD_exome_ASJ=0.0908;gnomAD_exome_EAS=0.1770;gnomAD_exome_FIN=0.0832;gnomAD_exome_NFE=0.0856;gnomAD_exome_OTH=0.0892;gnomAD_exome_SAS=0.0845;gnomAD_genome_ALL=0.0967;gnomAD_genome_AFR=0.0927;gnomAD_genome_AMR=0.1002;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.1809;gnomAD_genome_FIN=0.0834;gnomAD_genome_NFE=0.0929;gnomAD_genome_OTH=0.0959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-854.441,0,-1102.24:1270:627:594:16643:19328 0/1:-731.318,0,-920.556:1038:520:483:13732:16395 . 0/1:-621.712,0,-1085.63:1155:630:490:13422:19436 0/1:-1053.67,0,-1349.04:1570:785:714:20400:24339 0/1:-691.075,0,-980.695:1060:541:485:13332:16957 . 0/1:-699.706,0,-1022.05:1118:589:492:13777:17766 . . . 0/1:-655.476,0,-1001.98:1072:577:453:12843:17765 . . . . . . . . . . . . . . . . 0/1:-692.762,0,-973.616:1048:544:469:13388:16895 . . . 0/1:-532.357,0,-1026.77:1027:581:404:11509:17452 0/1:-861.035,0,-970.214:1194:570:586:16234:17756 . . . . . . . . . . . . . . . . 0/1:-669.089,0,-1074.26:1159:620:497:13821:19092 0/1:-1062.56,0,-1311.55:1518:749:711:19597:23332 . . . . . 0/1:-392.163,0,-736.366:741:421:284:7832:12571 . . 1/1:-2601.91,-307.951,0:1453:46:1308:36424:1353 . . . . . . . . . 0/1:-1016.11,0,-1256.14:1425:707:671:19087:22234 . . . 0/1:-734.619,0,-1168.99:1255:666:545:15530:20601 . . . 0/1:-484.289,0,-518.069:664:315:326:9242:9555 . . 0/1:-850.783,0,-1156.63:1290:657:584:16526:20387 . . . . . . . . . 0/1:-1239.21,0,-1398.46:1677:797:811:22545:24937 . . . . 0/1:-1103.17,0,-1288.51:1215:613:580:17667:19759:613,580 . . . . . . . . . 0/1:-771.444,0,-1227.41:990:551:422:12877:18017:551,422 . . . . 0/1:-1152.7,0,-1517.03:1348:719:608:18850:23300:719,608 . . . chr7 128470902 . A G 6323.16 . AB=0.494518;ABP=3.2484;AC=1;AF=0.5;AN=2;AO=451;CIGAR=1X;DP=912;DPB=912;DPRA=0;EPP=104.241;EPPR=78.3179;GTI=0;LEN=1;MEANALT=3;MQM=31.1596;MQMR=33.0696;NS=1;NUMALT=1;ODDS=1142.48;PAIRED=0.937916;PAIREDR=0.945876;PAO=0;PQA=0;PQR=0;PRO=0;QA=12164;QR=9974;RO=388;RPL=238;RPP=6.01955;RPPR=8.7412;RPR=213;RUN=1;SAF=227;SAP=3.05363;SAR=224;SF=0;SRF=172;SRP=13.8453;SRR=216;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon1:c.A211G:p.I71V,FLNC:NM_001458:exon1:c.A211G:p.I71V;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.032;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.815;MutationAssessor_pred=L;FATHMM_score=0.17;FATHMM_pred=T;PROVEAN_score=-0.76;PROVEAN_pred=N;VEST3_score=0.502;CADD_raw=4.048;CADD_phred=23.7;DANN_score=0.999;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.390;MetaSVM_pred=T;MetaLR_score=0.329;MetaLR_pred=T;integrated_fitCons_score=0.652;integrated_confidence_value=0;GERP++_RS=4.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.083;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.910;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.075e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.003e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-651.766,0,-514.222:912:388:451:12164:9974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128475393 . C T 8111.03 . AB=0.485966;ABP=5.14346;AC=1;AF=0.5;AN=2;AO=606;CIGAR=1X;DP=1247;DPB=1247;DPRA=0;EPP=63.5679;EPPR=39.5671;GTI=0;LEN=1;MEANALT=3;MQM=30.4092;MQMR=31.7357;NS=1;NUMALT=1;ODDS=1867.63;PAIRED=0.909241;PAIREDR=0.90404;PAO=0;PQA=0;PQR=0;PRO=0;QA=16612;QR=17538;RO=594;RPL=199;RPP=158.038;RPPR=116.249;RPR=407;RUN=1;SAF=421;SAP=202.585;SAR=185;SF=0;SRF=392;SRP=134.98;SRR=202;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C366T:p.I122I,FLNC:NM_001458:exon2:c.C366T:p.I122I;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs369120591;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=5.813e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=252576;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1050;dpsi_zscore=-0.464;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.083e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.057e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-861.583,0,-947.716:1247:594:606:16612:17538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128475588 . C T 6612.39 . AB=0.452977;ABP=25.2702;AC=1;AF=0.5;AN=2;AO=525;CIGAR=1X;DP=1159;DPB=1159;DPRA=0;EPP=9.30137;EPPR=12.4025;GTI=0;LEN=1;MEANALT=3;MQM=33.1448;MQMR=35.0346;NS=1;NUMALT=1;ODDS=1522.56;PAIRED=0.927619;PAIREDR=0.904844;PAO=0;PQA=0;PQR=0;PRO=0;QA=13547;QR=17755;RO=578;RPL=391;RPP=276.198;RPPR=208.722;RPR=134;RUN=1;SAF=193;SAP=82.9246;SAR=332;SF=0;SRF=194;SRP=138.633;SRR=384;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C561T:p.D187D,FLNC:NM_001458:exon2:c.C561T:p.D187D;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;1000g2015aug_all=0.000399361;avsnp147=rs149474376;Kaviar_AF=0.002348;Kaviar_AC=363;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0037;ExAC_OTH=0.0034;ExAC_SAS=0.0030;CLNALLELEID=369450;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1314;dpsi_zscore=-0.537;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0031;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0054;gnomAD_genome_NFE=0.0045;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-706.958,0,-1061.84:1159:578:525:13547:17755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128475624 . C T 5907.17 . AB=0.423163;ABP=49.061;AC=1;AF=0.5;AN=2;AO=380;CIGAR=1X;DP=898;DPB=898;DPRA=0;EPP=31.0109;EPPR=24.9942;GTI=0;LEN=1;MEANALT=3;MQM=39.4368;MQMR=40.3533;NS=1;NUMALT=1;ODDS=1360.18;PAIRED=0.976316;PAIREDR=0.977273;PAO=0;PQA=0;PQR=0;PRO=0;QA=10809;QR=15621;RO=484;RPL=301;RPP=284.639;RPPR=287.922;RPR=79;RUN=1;SAF=78;SAP=289.736;SAR=302;SF=1;SRF=111;SRP=310.983;SRR=373;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C597T:p.A199A,FLNC:NM_001458:exon2:c.C597T:p.A199A;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0021;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0021;1000g2015aug_all=0.00119808;avsnp147=rs143942649;Kaviar_AF=0.0017335;Kaviar_AC=268;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0025;ExAC_OTH=0.0034;ExAC_SAS=0.0017;CLNALLELEID=192306;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0626;dpsi_zscore=0.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=6.576e-05;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0023;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-664.449,0,-1085.6:898:484:380:10809:15621:484,380 . . chr7 128477472 . T C 8373.75 . AB=0.450622;ABP=31.9606;AC=27;AF=0.5;AN=50;AO=616;CIGAR=1X;DP=27734;DPB=1367;DPRA=0;EPP=5.77399;EPPR=5.52127;GTI=0;LEN=1;MEANALT=3;MQM=27.5244;MQMR=31.4204;NS=1;NUMALT=1;ODDS=1709.27;PAIRED=0.930195;PAIREDR=0.896755;PAO=0;PQA=0;PQR=0;PRO=0;QA=17241;QR=20173;RO=678;RPL=235;RPP=78.1517;RPPR=33.7696;RPR=381;RUN=1;SAF=385;SAP=86.612;SAR=231;SF=0,1;SRF=411;SRP=69.4228;SRR=267;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.T720C:p.I240I,FLNC:NM_001458:exon4:c.T720C:p.I240I;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1164;esp6500siv2_ea=0.1110;esp6500siv2_all=0.1164;esp6500siv2_ea=0.1110;1000g2015aug_all=0.121805;avsnp147=rs2291560;Kaviar_AF=0.108304;Kaviar_AC=16744;Kaviar_AN=154602;ExAC_ALL=0.1089;ExAC_AFR=0.1271;ExAC_AMR=0.0474;ExAC_EAS=0.0936;ExAC_FIN=0.1006;ExAC_NFE=0.1113;ExAC_OTH=0.1089;ExAC_SAS=0.1428;CLNALLELEID=134542;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0636;dpsi_zscore=0.356;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1051;gnomAD_exome_AFR=0.1266;gnomAD_exome_AMR=0.0472;gnomAD_exome_ASJ=0.1117;gnomAD_exome_EAS=0.0943;gnomAD_exome_FIN=0.1004;gnomAD_exome_NFE=0.1118;gnomAD_exome_OTH=0.1091;gnomAD_exome_SAS=0.1401;gnomAD_genome_ALL=0.1161;gnomAD_genome_AFR=0.1246;gnomAD_genome_AMR=0.0644;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0964;gnomAD_genome_FIN=0.0979;gnomAD_genome_NFE=0.1201;gnomAD_genome_OTH=0.1240;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-767.391,0,-1079.86:1367:678:616:17241:20173 0/1:-574.903,0,-958.486:1020:534:451:12599:16244 . 0/1:-596.009,0,-1015.24:1135:604:482:13733:17990 . 0/1:-507.925,0,-735.674:905:448:410:11194:13371 . . . . . 0/1:-558.995,0,-880.894:1028:523:453:12521:15528 . . . . . . . 0/1:-646.403,0,-592.344:837:378:423:12025:11217 . . . . . . . . 0/1:-592.523,0,-741.879:959:462:448:12011:13801 . . . 0/1:-740.463,0,-1026.37:1241:629:552:15111:19023 0/1:-660.057,0,-1010.99:1151:602:500:14011:17696 . . . . . . . 0/1:-777.746,0,-929.458:1171:562:561:15406:16765 . . . . . . . . 0/1:-347.571,0,-556.604:737:384:316:8760:11142 0/1:-1050.39,0,-970.85:1403:620:726:20234:18521 . . . . 0/1:-312.603,0,-367.449:524:249:248:6947:7422 0/1:-552.849,0,-584.184:814:364:417:11205:11040 . . 1/1:-2602.06,-338.148,0:1387:36:1316:36948:1047 . . . . . . . . . 0/1:-867.618,0,-1279.53:1480:771:645:17880:22878 . . 0/1:-538.229,0,-918.599:972:517:420:11559:15744 0/1:-806.37,0,-1026.34:1312:650:616:17085:19539 . . . 0/1:-415.567,0,-566.199:692:345:312:8744:10155 . . . . . . . . . . 0/1:-1002.19,0,-1176.24:1577:741:754:20455:21840 . 0/1:-965.723,0,-1350.52:1598:822:702:20084:24137 . . . . . . . . . . . . . . 0/1:-808.822,0,-1203.48:1012:567:435:13450:17858:567,435 0/1:-1070.84,0,-1202.92:1138:574:544:16853:18524:574,544 . . . 0/1:-1087.57,0,-1374.78:1253:651:585:17988:20655:651,585 . 1/1:-2480.95,-258.235,0:1021:16:991:30289:514:16,991 . chr7 128477547 . T C 12350.28 . AB=0.507008;ABP=3.71031;AC=27;AF=0.5;AN=50;AO=832;CIGAR=1X;DP=35006;DPB=1641;DPRA=0;EPP=19.7139;EPPR=10.7579;GTI=0;LEN=1;MEANALT=3;MQM=29.4495;MQMR=33.2044;NS=1;NUMALT=1;ODDS=2454.42;PAIRED=0.896635;PAIREDR=0.893004;PAO=0;PQA=0;PQR=0;PRO=0;QA=23884;QR=20200;RO=729;RPL=401;RPP=5.35925;RPPR=17.1919;RPR=431;RUN=1;SAF=445;SAP=11.7901;SAR=387;SF=0,1;SRF=415;SRP=33.396;SRR=314;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.T795C:p.G265G,FLNC:NM_001458:exon4:c.T795C:p.G265G;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1144;esp6500siv2_ea=0.1108;esp6500siv2_all=0.1144;esp6500siv2_ea=0.1108;1000g2015aug_all=0.121006;avsnp147=rs2291561;Kaviar_AF=0.107023;Kaviar_AC=16546;Kaviar_AN=154602;ExAC_ALL=0.1086;ExAC_AFR=0.1249;ExAC_AMR=0.0469;ExAC_EAS=0.0936;ExAC_FIN=0.1005;ExAC_NFE=0.1112;ExAC_OTH=0.11;ExAC_SAS=0.1426;CLNALLELEID=134545;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0634;dpsi_zscore=0.355;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1048;gnomAD_exome_AFR=0.1241;gnomAD_exome_AMR=0.0467;gnomAD_exome_ASJ=0.1116;gnomAD_exome_EAS=0.0942;gnomAD_exome_FIN=0.1004;gnomAD_exome_NFE=0.1116;gnomAD_exome_OTH=0.1092;gnomAD_exome_SAS=0.1399;gnomAD_genome_ALL=0.1152;gnomAD_genome_AFR=0.1218;gnomAD_genome_AMR=0.0621;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0962;gnomAD_genome_FIN=0.0979;gnomAD_genome_NFE=0.1200;gnomAD_genome_OTH=0.1235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-1233.82,0,-1080.94:1641:729:832:23884:20200 0/1:-803.389,0,-1131.16:1306:676:576:16243:19139 . 0/1:-900.205,0,-1215.71:1440:739:648:18444:20765 . 0/1:-761.866,0,-793.141:1092:517:524:15178:14405 . . . . . 0/1:-955.705,0,-957.672:1337:621:649:18670:17105 . . . . . . . 0/1:-779.896,0,-719.179:1014:476:495:14260:13027 . . . . . . . . 0/1:-862.743,0,-831.977:1164:542:569:16725:15107 . . . 0/1:-1077.54,0,-1219.84:1553:764:721:20747:21560 0/1:-996.578,0,-975.734:1378:642:671:19540:17310 . . . . . . . 0/1:-1149.93,0,-920.906:1388:618:711:21253:16572 . . . . . . . . 0/1:-666.717,0,-751.973:1082:519:512:14498:14089 0/1:-1296.82,0,-1022.8:1567:699:804:23656:18778 . . . . 0/1:-468.67,0,-537:761:361:350:9890:10224 0/1:-703.351,0,-767.993:1002:475:490:13835:13239 . . 1/1:-3472.35,-446.571,0:1750:31:1673:48909:855 . . . . . . . . . 0/1:-1445.81,0,-1297.03:1853:859:916:26821:23432 . . 0/1:-862.745,0,-896.077:1188:569:566:16704:15938 0/1:-1160.34,0,-1268.79:1725:841:808:23117:23168 . . . 0/1:-573.774,0,-775.62:917:469:400:11462:13191 . . . . . . . . . . 0/1:-1441.44,0,-1376.07:1924:904:937:27234:24987 . 0/1:-1374.78,0,-1424.07:1895:905:910:26426:25140 . . . . . . . . . . . . . . 0/1:-1157.73,0,-1310.27:1289:675:584:18307:19997:675,584 0/1:-1620.25,0,-1590.8:1625:785:792:24836:24168:785,792 . . . 0/1:-1576.84,0,-1699.47:1721:874:804:25092:25733:874,804 . 1/1:-3526.16,-359.152,0:1394:24:1351:42487:619:24,1351 . chr7 128477620 . G A 8965.44 . AB=0.4475;ABP=41.3151;AC=21;AF=0.5;AN=40;AO=716;CIGAR=1X;DP=28095;DPB=1600;DPRA=0;EPP=4.22341;EPPR=21.1059;GTI=0;LEN=1;MEANALT=3;MQM=30.0545;MQMR=32.4844;NS=1;NUMALT=1;ODDS=2080.83;PAIRED=0.868715;PAIREDR=0.876302;PAO=0;PQA=0;PQR=0;PRO=0;QA=18500;QR=22828;RO=768;RPL=350;RPP=3.78669;RPPR=6.27882;RPR=366;RUN=1;SAF=332;SAP=11.2109;SAR=384;SF=0,1;SRF=367;SRP=6.27882;SRR=401;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0858;esp6500siv2_ea=0.0864;esp6500siv2_all=0.0858;esp6500siv2_ea=0.0864;1000g2015aug_all=0.076877;avsnp147=rs55907818;Kaviar_AF=0.0807363;Kaviar_AC=12482;Kaviar_AN=154602;ExAC_ALL=0.0813;ExAC_AFR=0.0830;ExAC_AMR=0.0376;ExAC_EAS=0.0712;ExAC_FIN=0.0707;ExAC_NFE=0.0891;ExAC_OTH=0.0848;ExAC_SAS=0.0888;CLNALLELEID=252577;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0993;dpsi_zscore=0.481;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0786;gnomAD_exome_AFR=0.0836;gnomAD_exome_AMR=0.0382;gnomAD_exome_ASJ=0.1085;gnomAD_exome_EAS=0.0726;gnomAD_exome_FIN=0.0676;gnomAD_exome_NFE=0.0879;gnomAD_exome_OTH=0.0860;gnomAD_exome_SAS=0.0864;gnomAD_genome_ALL=0.0829;gnomAD_genome_AFR=0.0787;gnomAD_genome_AMR=0.0513;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0783;gnomAD_genome_FIN=0.0676;gnomAD_genome_NFE=0.0896;gnomAD_genome_OTH=0.0980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-913.366,0,-1259.45:1600:768:716:18500:22828 0/1:-655.467,0,-1164.59:1240:647:519:13600:19863 . 0/1:-674.937,0,-1335.06:1419:756:580:14997:22695 . 0/1:-553.155,0,-891.335:1037:520:452:11739:15933 . . . . . 0/1:-589.773,0,-1129.21:1245:643:524:13394:19778 . . . . . . . . . . . . . . . . 0/1:-555.519,0,-917.41:1118:539:484:12438:16054 . . . 0/1:-959.942,0,-1585.78:1780:921:735:19605:27973 0/1:-704.847,0,-1016.6:1183:564:544:14331:17733 . . . . . . . 0/1:-732.107,0,-1198.31:1335:668:581:14697:20433 . . . . . . . . 0/1:-507.867,0,-1067.25:1188:639:475:12113:19068 0/1:-796.286,0,-1279.79:1426:720:624:16474:22396 . . . . . 0/1:-455.79,0,-1052.38:1016:555:378:9930:17019 . . 1/1:-2764.48,-372.105,0:1728:43:1509:38963:1232 . . . . . . . . . 0/1:-1089.44,0,-1526.93:1809:873:805:21039:26728 . . . 0/1:-980.84,0,-1714.18:1905:965:815:20551:29411 . . . 0/1:-403.539,0,-867.753:876:478:340:9021:14464 . . . . . . . . . . . . 0/1:-1054.04,0,-1657.71:1838:937:795:20978:28882 . . . . . . . . . . . . . . 0/1:-1098.28,0,-1381.25:1307:651:613:17570:20930:651,613 . . . . 0/1:-1408.22,0,-1850.09:1695:857:779:22489:27446:857,779 . 0/1:-1103.44,0,-1438.25:1350:683:626:17888:21435:683,626 . chr7 128477778 . A G 6971.84 . AB=0.449688;ABP=27.7009;AC=1;AF=0.5;AN=2;AO=505;CIGAR=1X;DP=1123;DPB=1123;DPRA=0;EPP=24.6863;EPPR=8.53073;GTI=0;LEN=1;MEANALT=3;MQM=33.7822;MQMR=33.8592;NS=1;NUMALT=1;ODDS=1605.33;PAIRED=0.90495;PAIREDR=0.829225;PAO=0;PQA=0;PQR=0;PRO=0;QA=13309;QR=15886;RO=568;RPL=237;RPP=7.14255;RPPR=16.7732;RPR=268;RUN=1;SAF=244;SAP=4.25298;SAR=261;SF=0;SRF=279;SRP=3.3926;SRR=289;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon5:c.A938G:p.Y313C,FLNC:NM_001458:exon5:c.A938G:p.Y313C;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.947;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.808;MutationTaster_pred=D;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=-1.87;FATHMM_pred=D;PROVEAN_score=-6.19;PROVEAN_pred=D;VEST3_score=0.664;CADD_raw=5.572;CADD_phred=26.4;DANN_score=0.998;fathmm-MKL_coding_score=0.896;fathmm-MKL_coding_pred=D;MetaSVM_score=0.569;MetaSVM_pred=D;MetaLR_score=0.668;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.52;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.026;GDI_full_10282015=.;dpsi_max_tissue=-0.0371;dpsi_zscore=-0.204;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-708.657,0,-899.316:1123:568:505:13309:15886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128477823 . G T 8285.30 . AB=0.387509;ABP=157.878;AC=2;AF=0.5;AN=4;AO=546;CIGAR=1X;DP=3250;DPB=1409;DPRA=0;EPP=56.5256;EPPR=165.576;GTI=0;LEN=1;MEANALT=3;MQM=32.7436;MQMR=33.1579;NS=1;NUMALT=1;ODDS=1466.33;PAIRED=0.891941;PAIREDR=0.884211;PAO=0;PQA=0;PQR=0;PRO=0;QA=14115;QR=25111;RO=855;RPL=289;RPP=7.0828;RPPR=6.4872;RPR=257;RUN=1;SAF=214;SAP=58.3868;SAR=332;SF=0;SRF=347;SRP=68.8427;SRR=508;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs765545958;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=252578;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1161;dpsi_zscore=-0.496;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-671.163,0,-1496.58:1409:855:546:14115:25111 . . . . . . . . . 0/1:-1046.15,0,-1785.93:1841:1015:816:20782:30407 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128478103 . C T 9991.15 . AB=0.45674;ABP=35.3246;AC=9;AF=0.5;AN=18;AO=908;CIGAR=1X;DP=12323;DPB=1988;DPRA=0;EPP=15.4078;EPPR=35.1564;GTI=0;LEN=1;MEANALT=3;MQM=34.2357;MQMR=33.7321;NS=1;NUMALT=1;ODDS=3030.9;PAIRED=0.920705;PAIREDR=0.90091;PAO=0;PQA=0;PQR=0;PRO=0;QA=23975;QR=29587;RO=989;RPL=460;RPP=3.35467;RPPR=8.28199;RPR=448;RUN=1;SAF=466;SAP=4.3878;SAR=442;SF=0,1;SRF=500;SRP=3.27597;SRR=489;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon6:c.C1032T:p.V344V,FLNC:NM_001458:exon6:c.C1032T:p.V344V;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1147;esp6500siv2_ea=0.0409;esp6500siv2_all=0.1147;esp6500siv2_ea=0.0409;1000g2015aug_all=0.196486;avsnp147=rs2291562;Kaviar_AF=0.0938798;Kaviar_AC=14514;Kaviar_AN=154602;ExAC_ALL=0.0987;ExAC_AFR=0.2839;ExAC_AMR=0.1680;ExAC_EAS=0.3229;ExAC_FIN=0.0230;ExAC_NFE=0.0420;ExAC_OTH=0.0746;ExAC_SAS=0.0838;CLNALLELEID=134524;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8243;dpsi_zscore=-1.841;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0951;gnomAD_exome_AFR=0.2849;gnomAD_exome_AMR=0.1518;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.3245;gnomAD_exome_FIN=0.0268;gnomAD_exome_NFE=0.0410;gnomAD_exome_OTH=0.0734;gnomAD_exome_SAS=0.0847;gnomAD_genome_ALL=0.1266;gnomAD_genome_AFR=0.2929;gnomAD_genome_AMR=0.1295;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.3092;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.0397;gnomAD_genome_OTH=0.0704;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1326.94,0,-1685.84:1988:989:908:23975:29587 . . . . . . . . . . . . . . . . . . 0/1:-1080.54,0,-1388.22:1631:827:741:19997:24947 . . . . . 0/1:-850.935,0,-933.666:1159:544:567:15334:16308 0/1:-1163.27,0,-1292.17:1600:753:786:21457:22960 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-362.119,0,-393.796:612:282:290:7509:8135 . . 0/1:-415.325,0,-521.894:690:324:327:8489:9805 . 0/1:-949.185,0,-1076.89:1341:632:656:17558:19211 . 0/1:-1204.35,0,-1386.13:1739:814:839:22146:24589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1437.72,0,-1653.18:1563:792:743:22460:24959:792,743 . . . . . . . . . . . . . . . . . . chr7 128480123 . C A 8816.97 . AB=0.451465;ABP=25.3534;AC=7;AF=0.5;AN=14;AO=493;CIGAR=1X;DP=9629;DPB=1092;DPRA=0;EPP=88.1118;EPPR=72.3892;GTI=0;LEN=1;MEANALT=3;MQM=29.7911;MQMR=30.2544;NS=1;NUMALT=1;ODDS=1278.24;PAIRED=0.906694;PAIREDR=0.862989;PAO=0;PQA=0;PQR=0;PRO=0;QA=11982;QR=14618;RO=562;RPL=225;RPP=11.1544;RPPR=10.4907;RPR=268;RUN=1;SAF=246;SAP=3.0147;SAR=247;SF=0,1;SRF=295;SRP=6.03954;SRR=267;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon9:c.C1458A:p.P486P,FLNC:NM_001458:exon9:c.C1458A:p.P486P;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1055;esp6500siv2_ea=0.0179;esp6500siv2_all=0.1055;esp6500siv2_ea=0.0179;1000g2015aug_all=0.196086;avsnp147=rs2291563;Kaviar_AF=0.0789058;Kaviar_AC=12199;Kaviar_AN=154602;ExAC_ALL=0.0835;ExAC_AFR=0.3073;ExAC_AMR=0.1383;ExAC_EAS=0.3167;ExAC_FIN=0.0230;ExAC_NFE=0.0205;ExAC_OTH=0.0703;ExAC_SAS=0.0701;CLNALLELEID=134526;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0994;dpsi_zscore=0.481;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0807;gnomAD_exome_AFR=0.3110;gnomAD_exome_AMR=0.1274;gnomAD_exome_ASJ=0.0250;gnomAD_exome_EAS=0.3206;gnomAD_exome_FIN=0.0258;gnomAD_exome_NFE=0.0181;gnomAD_exome_OTH=0.0590;gnomAD_exome_SAS=0.0697;gnomAD_genome_ALL=0.1217;gnomAD_genome_AFR=0.3170;gnomAD_genome_AMR=0.1062;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.3046;gnomAD_genome_FIN=0.0229;gnomAD_genome_NFE=0.0192;gnomAD_genome_OTH=0.05;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-573.003,0,-749.127:1092:562:493:11982:14618 . . . . 0/1:-775.568,0,-859.07:1300:642:616:15344:16769 0/1:-981.745,0,-1141.53:1616:798:766:19065:21592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-482.694,0,-612.752:859:434:395:10030:11814 . 0/1:-836.618,0,-1002.55:1317:668:608:15370:18014 . 0/1:-1072.04,0,-1273.07:1755:885:814:20281:23610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1458.64,0,-1642.07:1690:870:796:22891:24903:870,796 . . . . . . . . . . . . . . . . . . chr7 128480184 . G A 9586.12 . AB=0.431076;ABP=71.2581;AC=1;AF=0.5;AN=2;AO=713;CIGAR=1X;DP=1654;DPB=1654;DPRA=0;EPP=30.4963;EPPR=3.93362;GTI=0;LEN=1;MEANALT=3;MQM=31.2342;MQMR=31.6926;NS=1;NUMALT=1;ODDS=2207.29;PAIRED=0.873773;PAIREDR=0.890459;PAO=0;PQA=0;PQR=0;PRO=0;QA=19502;QR=25548;RO=849;RPL=463;RPP=141.184;RPPR=88.6645;RPR=250;RUN=1;SAF=275;SAP=83.9273;SAR=438;SF=0;SRF=325;SRP=104.297;SRR=524;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon9:c.G1519A:p.G507R,FLNC:NM_001458:exon9:c.G1519A:p.G507R;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000998403;avsnp147=rs189525930;Kaviar_AF=0.0008797;Kaviar_AC=136;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=406965;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.27;MutationAssessor_pred=M;FATHMM_score=-3.29;FATHMM_pred=D;PROVEAN_score=-6.33;PROVEAN_pred=D;VEST3_score=0.85;CADD_raw=7.368;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=1.054;MetaSVM_pred=D;MetaLR_score=0.923;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.398;GDI_full_10282015=.;dpsi_max_tissue=-0.1116;dpsi_zscore=-0.484;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-994.37,0,-1441.65:1654:849:713:19502:25548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128480229 . C A 5824.59 . AB=0.461681;ABP=16.8231;AC=2;AF=0.5;AN=4;AO=500;CIGAR=1X;DP=2064;DPB=1083;DPRA=0;EPP=5.51184;EPPR=21.6737;GTI=0;LEN=1;MEANALT=3;MQM=29.95;MQMR=30.6766;NS=1;NUMALT=1;ODDS=1397.98;PAIRED=0.918;PAIREDR=0.888476;PAO=0;PQA=0;PQR=0;PRO=0;QA=12931;QR=15664;RO=538;RPL=337;RPP=134.497;RPPR=128.035;RPR=163;RUN=1;SAF=167;SAP=122.684;SAR=333;SF=0;SRF=176;SRP=142.646;SRR=362;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0052;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0052;1000g2015aug_all=0.00139776;avsnp147=rs181134489;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0012;ExAC_AMR=0.0036;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0063;ExAC_OTH=0.0034;ExAC_SAS=0.0006;CLNALLELEID=252579;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0829;dpsi_zscore=0.428;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0043;gnomAD_exome_ASJ=0.0072;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0064;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0067;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-641.208,0,-817.072:1083:538:500:12931:15664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-592.261,0,-679.209:981:473:469:12145:13483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128480652 . G A 6748.72 . AB=0.466102;ABP=14.7878;AC=1;AF=0.5;AN=2;AO=550;CIGAR=1X;DP=1180;DPB=1180;DPRA=0;EPP=67.6965;EPPR=53.1285;GTI=0;LEN=1;MEANALT=3;MQM=32.0255;MQMR=31.801;NS=1;NUMALT=1;ODDS=1553.95;PAIRED=0.861818;PAIREDR=0.886562;PAO=0;PQA=0;PQR=0;PRO=0;QA=13989;QR=17011;RO=573;RPL=149;RPP=253.732;RPPR=230.484;RPR=401;RUN=1;SAF=250;SAP=12.8806;SAR=300;SF=0;SRF=269;SRP=7.65263;SRR=304;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon10:c.G1600A:p.E534K,FLNC:NM_001458:exon10:c.G1600A:p.E534K;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0011;1000g2015aug_all=0.000199681;avsnp147=rs201905890;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0013;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=190794;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.793;SIFT_pred=T;Polyphen2_HDIV_score=0.162;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.026;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=0.375;MutationAssessor_pred=N;FATHMM_score=-1.88;FATHMM_pred=D;PROVEAN_score=-1.39;PROVEAN_pred=N;VEST3_score=0.299;CADD_raw=2.421;CADD_phred=18.96;DANN_score=0.990;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.766;MetaSVM_pred=T;MetaLR_score=0.305;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.44;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=10.344;GDI_full_10282015=.;dpsi_max_tissue=-0.0501;dpsi_zscore=-0.266;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0018;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-716.487,0,-905.653:1180:573:550:13989:17011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128480666 . C T 8558.63 . AB=0.50687;ABP=3.27883;AC=4;AF=0.5;AN=8;AO=332;CIGAR=1X;DP=4532;DPB=655;DPRA=0;EPP=9.70785;EPPR=4.63349;GTI=0;LEN=1;MEANALT=3;MQM=30.0452;MQMR=31.2425;NS=1;NUMALT=1;ODDS=1023.24;PAIRED=0.743976;PAIREDR=0.860465;PAO=0;PQA=0;PQR=0;PRO=0;QA=8888;QR=9036;RO=301;RPL=109;RPP=88.0117;RPPR=39.3771;RPR=223;RUN=1;SAF=169;SAP=3.24576;SAR=163;SF=0,1;SRF=147;SRP=3.3638;SRR=154;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon10:c.C1614T:p.Y538Y,FLNC:NM_001458:exon10:c.C1614T:p.Y538Y;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0274;esp6500siv2_ea=0.0347;esp6500siv2_all=0.0274;esp6500siv2_ea=0.0347;1000g2015aug_all=0.0159744;avsnp147=rs76046880;Kaviar_AF=0.0309698;Kaviar_AC=4788;Kaviar_AN=154602;ExAC_ALL=0.0315;ExAC_AFR=0.0111;ExAC_AMR=0.0103;ExAC_EAS=0.0002;ExAC_FIN=0.0702;ExAC_NFE=0.0395;ExAC_OTH=0.0234;ExAC_SAS=0.0280;CLNALLELEID=134528;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0582;dpsi_zscore=0.334;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0314;gnomAD_exome_AFR=0.0106;gnomAD_exome_AMR=0.0114;gnomAD_exome_ASJ=0.0201;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0759;gnomAD_exome_NFE=0.0386;gnomAD_exome_OTH=0.0294;gnomAD_exome_SAS=0.0269;gnomAD_genome_ALL=0.0343;gnomAD_genome_AFR=0.0102;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0684;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-461.634,0,-464.316:655:301:332:8888:9036 . . . . . . . . . . . . . . . . 0/1:-951.733,0,-1020.58:1287:611:633:17849:18415 . . . . 0/1:-971.366,0,-1105.99:1367:659:654:18510:19735 . . . . . . . . . . . . . . . . . . . . 0/1:-1258.66,0,-1169.1:1223:570:630:19852:18081:570,630 . . . . . . . . . . . . chr7 128481312 . G A 5306.02 . AB=0.408514;ABP=83.2682;AC=2;AF=0.5;AN=4;AO=451;CIGAR=1X;DP=2176;DPB=1104;DPRA=0;EPP=12.7603;EPPR=6.88057;GTI=0;LEN=1;MEANALT=3;MQM=31.2328;MQMR=31.5646;NS=1;NUMALT=1;ODDS=1172.86;PAIRED=0.829268;PAIREDR=0.878887;PAO=0;PQA=0;PQR=0;PRO=0;QA=11450;QR=19019;RO=611;RPL=160;RPP=85.637;RPPR=135.392;RPR=291;RUN=1;SAF=252;SAP=16.5351;SAR=199;SF=0;SRF=333;SRP=13.761;SRR=278;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon12:c.G1902A:p.E634E,FLNC:NM_001458:exon12:c.G1902A:p.E634E;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0054;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0054;1000g2015aug_all=0.00159744;avsnp147=rs12536635;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0013;ExAC_AMR=0.0035;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0064;ExAC_OTH=0.0033;ExAC_SAS=0.0007;CLNALLELEID=191201;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0396;dpsi_zscore=0.248;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0043;gnomAD_exome_ASJ=0.0072;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0066;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0038;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0068;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-533.193,0,-1067.89:1104:611:451:11450:19019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-583.271,0,-943.615:1072:553:475:12334:17136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128481562 . G A 10504.70 . AB=0.421425;ABP=101.631;AC=1;AF=0.5;AN=2;AO=775;CIGAR=1X;DP=1839;DPB=1839;DPRA=0;EPP=3.03552;EPPR=7.36224;GTI=0;LEN=1;MEANALT=3;MQM=33.44;MQMR=34.3344;NS=1;NUMALT=1;ODDS=2418.79;PAIRED=0.88129;PAIREDR=0.886128;PAO=0;PQA=0;PQR=0;PRO=0;QA=20366;QR=29459;RO=966;RPL=321;RPP=52.5731;RPPR=71.0678;RPR=454;RUN=1;SAF=344;SAP=24.2179;SAR=431;SF=0;SRF=497;SRP=4.77265;SRR=469;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon13:c.G2062A:p.A688T,FLNC:NM_001458:exon13:c.G2062A:p.A688T;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774194364;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.141e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=5.995e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.414;SIFT_pred=T;Polyphen2_HDIV_score=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.074;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-1.91;FATHMM_pred=D;PROVEAN_score=-1.05;PROVEAN_pred=N;VEST3_score=0.293;CADD_raw=2.772;CADD_phred=21.2;DANN_score=0.992;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.357;MetaSVM_pred=T;MetaLR_score=0.454;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=5.57;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.967;phastCons20way_mammalian=0.707;SiPhy_29way_logOdds=19.547;GDI_full_10282015=.;dpsi_max_tissue=-0.2381;dpsi_zscore=-0.755;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.655e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.266e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1070.47,0,-1758.83:1839:966:775:20366:29459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128482440 . C G 8507.71 . AB=0.510996;ABP=4.63399;AC=9;AF=0.5;AN=18;AO=790;CIGAR=1X;DP=10401;DPB=1546;DPRA=0;EPP=15.7203;EPPR=10.0654;GTI=0;LEN=1;MEANALT=3;MQM=29.8709;MQMR=31.8281;NS=1;NUMALT=1;ODDS=2659.91;PAIRED=0.898734;PAIREDR=0.905277;PAO=0;PQA=0;PQR=0;PRO=0;QA=23251;QR=22915;RO=739;RPL=477;RPP=76.9393;RPPR=64.79;RPR=313;RUN=1;SAF=278;SAP=153.518;SAR=512;SF=0,1;SRF=242;SRP=194.079;SRR=497;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1559;esp6500siv2_ea=0.0515;esp6500siv2_all=0.1559;esp6500siv2_ea=0.0515;1000g2015aug_all=0.267372;avsnp147=rs2291566;Kaviar_AF=0.124352;Kaviar_AC=19225;Kaviar_AN=154602;ExAC_ALL=0.1318;ExAC_AFR=0.4057;ExAC_AMR=0.1778;ExAC_EAS=0.3607;ExAC_FIN=0.0389;ExAC_NFE=0.0534;ExAC_OTH=0.0938;ExAC_SAS=0.1705;CLNALLELEID=229550;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.0984;dpsi_zscore=1.579;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1253;gnomAD_exome_AFR=0.4066;gnomAD_exome_AMR=0.1612;gnomAD_exome_ASJ=0.0187;gnomAD_exome_EAS=0.3610;gnomAD_exome_FIN=0.0409;gnomAD_exome_NFE=0.0539;gnomAD_exome_OTH=0.0963;gnomAD_exome_SAS=0.1702;gnomAD_genome_ALL=0.1735;gnomAD_genome_AFR=0.4166;gnomAD_genome_AMR=0.1504;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.3480;gnomAD_genome_FIN=0.0407;gnomAD_genome_NFE=0.0538;gnomAD_genome_OTH=0.0918;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1187.85,0,-1215:1546:739:790:23251:22915 . . . . . . . . . . . . . . . . . . 0/1:-966.928,0,-1258.16:1410:766:631:18992:23453 . . . . . 0/1:-703.64,0,-870:1002:511:475:14093:15814 0/1:-912.371,0,-1092.73:1250:638:597:17687:20235 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-453.724,0,-519.141:668:337:326:9358:10544 . . 0/1:-536.726,0,-650.035:787:394:385:11171:12152 . 0/1:-814.757,0,-1102.88:1215:636:562:16514:19857 . 0/1:-1033.18,0,-1163.86:1408:714:678:19883:21760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1139.07,0,-1187.81:1115:562:542:17232:17858:562,542 . . . . . . . . . . . . . . . . . . chr7 128482735 . G T 3827.43 . AB=0.431298;ABP=24.493;AC=1;AF=0.5;AN=2;AO=226;CIGAR=1X;DP=524;DPB=524;DPRA=0;EPP=18.3836;EPPR=6.63441;GTI=0;LEN=1;MEANALT=3;MQM=37.5929;MQMR=37.131;NS=1;NUMALT=1;ODDS=881.297;PAIRED=0.818584;PAIREDR=0.844828;PAO=0;PQA=0;PQR=0;PRO=0;QA=6775;QR=8923;RO=290;RPL=152;RPP=61.4671;RPPR=141.505;RPR=74;RUN=1;SAF=161;SAP=91.5603;SAR=65;SF=1;SRF=201;SRP=96.9377;SRR=89;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon15:c.G2372T:p.C791F,FLNC:NM_001458:exon15:c.G2372T:p.C791F;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.99;MutationAssessor_pred=M;FATHMM_score=-1.87;FATHMM_pred=D;PROVEAN_score=-9.95;PROVEAN_pred=D;VEST3_score=0.964;CADD_raw=6.862;CADD_phred=33;DANN_score=0.994;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=0.777;MetaSVM_pred=D;MetaLR_score=0.805;MetaLR_pred=D;integrated_fitCons_score=0.713;integrated_confidence_value=0;GERP++_RS=5.54;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.494;GDI_full_10282015=.;dpsi_max_tissue=0.2278;dpsi_zscore=0.774;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-407.005,0,-581.52:524:290:226:6775:8923:290,226 . . . . . . . . chr7 128482834 . C T 5336.34 . AB=0.41365;ABP=65.6372;AC=2;AF=0.5;AN=4;AO=400;CIGAR=1X;DP=2093;DPB=967;DPRA=0;EPP=57.2971;EPPR=5.61523;GTI=0;LEN=1;MEANALT=3;MQM=31.6175;MQMR=31.4568;NS=1;NUMALT=1;ODDS=1163.61;PAIRED=0.925;PAIREDR=0.953935;PAO=0;PQA=0;PQR=0;PRO=0;QA=11265;QR=15069;RO=521;RPL=93;RPP=251.622;RPPR=300.135;RPR=307;RUN=1;SAF=289;SAP=175.013;SAR=111;SF=0;SRF=340;SRP=108.379;SRR=181;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0083;esp6500siv2_ea=0.0114;esp6500siv2_all=0.0083;esp6500siv2_ea=0.0114;1000g2015aug_all=0.00339457;avsnp147=rs71581921;Kaviar_AF=0.0096635;Kaviar_AC=1494;Kaviar_AN=154602;ExAC_ALL=0.0115;ExAC_AFR=0.0027;ExAC_AMR=0.0054;ExAC_EAS=0;ExAC_FIN=0.0226;ExAC_NFE=0.0169;ExAC_OTH=0.0081;ExAC_SAS=0.0017;CLNALLELEID=252589;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5321;dpsi_zscore=-1.122;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0102;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0068;gnomAD_exome_ASJ=0.0185;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0193;gnomAD_exome_NFE=0.0136;gnomAD_exome_OTH=0.0127;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0082;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0169;gnomAD_genome_NFE=0.0101;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-565.964,0,-808.819:967:521:400:11265:15069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-628.606,0,-934.8:1126:594:464:12957:17513 . . . . . . . . . . . . . . . . . . . . . chr7 128482835 . C T 7279.27 . AB=0.490247;ABP=3.64565;AC=4;AF=0.5;AN=8;AO=377;CIGAR=1X;DP=4398;DPB=769;DPRA=0;EPP=48.6343;EPPR=20.001;GTI=0;LEN=1;MEANALT=3;MQM=29.6393;MQMR=29.1281;NS=1;NUMALT=1;ODDS=1076.12;PAIRED=0.949602;PAIREDR=0.930362;PAO=0;PQA=0;PQR=0;PRO=0;QA=10644;QR=10613;RO=359;RPL=82;RPP=264.33;RPPR=188.251;RPR=295;RUN=1;SAF=259;SAP=117.522;SAR=118;SF=0,1;SRF=232;SRP=69.6969;SRR=127;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0352;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0352;1000g2015aug_all=0.0147764;avsnp147=rs78086167;Kaviar_AF=0.0304265;Kaviar_AC=4704;Kaviar_AN=154602;ExAC_ALL=0.0362;ExAC_AFR=0.0067;ExAC_AMR=0.0112;ExAC_EAS=0.0009;ExAC_FIN=0.0894;ExAC_NFE=0.0449;ExAC_OTH=0.0292;ExAC_SAS=0.0349;CLNALLELEID=252590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5795;dpsi_zscore=-1.167;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0314;gnomAD_exome_AFR=0.0059;gnomAD_exome_AMR=0.0100;gnomAD_exome_ASJ=0.0205;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0760;gnomAD_exome_NFE=0.0387;gnomAD_exome_OTH=0.0283;gnomAD_exome_SAS=0.0303;gnomAD_genome_ALL=0.0333;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0684;gnomAD_genome_NFE=0.0446;gnomAD_genome_OTH=0.0460;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-529.757,0,-502.837:769:359:377:10644:10613 . . . . . . . . . . . . . . . . 0/1:-790.167,0,-847.953:1170:568:548:15210:16551 . . . . 0/1:-785.244,0,-980.414:1304:641:595:16470:18609 . . . . . . . . . . . . . . . . . . . . 0/1:-1166.19,0,-1052.02:1155:541:593:18537:17071:541,593 . . . . . . . . . . . . chr7 128482839 . T C 8064.84 . AB=0.486201;ABP=5.04782;AC=1;AF=0.5;AN=2;AO=599;CIGAR=1X;DP=1232;DPB=1232;DPRA=0;EPP=3.10093;EPPR=43.8044;GTI=0;LEN=1;MEANALT=3;MQM=30.5392;MQMR=31.7219;NS=1;NUMALT=1;ODDS=1677.96;PAIRED=0.916528;PAIREDR=0.911602;PAO=0;PQA=0;PQR=0;PRO=0;QA=16595;QR=15554;RO=543;RPL=140;RPP=371.91;RPPR=365.326;RPR=459;RUN=1;SAF=371;SAP=77.1413;SAR=228;SF=0;SRF=365;SRP=142.852;SRR=178;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0026;1000g2015aug_all=0.000399361;avsnp147=rs368068407;Kaviar_AF=0.0024062;Kaviar_AC=372;Kaviar_AN=154602;ExAC_ALL=0.0027;ExAC_AFR=0.0007;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0037;ExAC_OTH=0;ExAC_SAS=0.0035;CLNALLELEID=457241;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5829;dpsi_zscore=-1.170;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0014;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0043;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-861.445,0,-793.973:1232:543:599:16595:15554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128482959 . C T 9030.53 . AB=0.444845;ABP=39.6592;AC=1;AF=0.5;AN=2;AO=617;CIGAR=1X;DP=1387;DPB=1387;DPRA=0;EPP=6.39245;EPPR=12.2376;GTI=0;LEN=1;MEANALT=3;MQM=33.8104;MQMR=34.9824;NS=1;NUMALT=1;ODDS=2079.36;PAIRED=0.95624;PAIREDR=0.933604;PAO=0;PQA=0;PQR=0;PRO=0;QA=16876;QR=22230;RO=738;RPL=393;RPP=103.528;RPPR=227.149;RPR=224;RUN=1;SAF=298;SAP=4.56236;SAR=319;SF=0;SRF=344;SRP=10.3662;SRR=394;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon16:c.C2501T:p.T834M,FLNC:NM_001458:exon16:c.C2501T:p.T834M;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;1000g2015aug_all=0.0239617;avsnp147=rs75133741;Kaviar_AF=0.0084281;Kaviar_AC=1303;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0005;ExAC_AMR=0.0012;ExAC_EAS=0.0179;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0056;ExAC_SAS=0.0498;CLNALLELEID=134529;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.367;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.177;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.375;MutationAssessor_pred=L;FATHMM_score=-3.09;FATHMM_pred=D;PROVEAN_score=-3.02;PROVEAN_pred=D;VEST3_score=0.32;CADD_raw=3.931;CADD_phred=23.5;DANN_score=0.991;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_pred=D;MetaSVM_score=0.082;MetaSVM_pred=D;MetaLR_score=0.493;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.968;phastCons20way_mammalian=0.524;SiPhy_29way_logOdds=19.847;GDI_full_10282015=.;dpsi_max_tissue=0.0641;dpsi_zscore=0.358;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0171;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0495;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0160;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-924.202,0,-1339.25:1387:738:617:16876:22230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128482977 . G A 5448.06 . AB=0.450122;ABP=20.773;AC=1;AF=0.5;AN=2;AO=370;CIGAR=1X;DP=822;DPB=822;DPRA=0;EPP=3.1042;EPPR=8.40736;GTI=0;LEN=1;MEANALT=3;MQM=33.1081;MQMR=33.182;NS=1;NUMALT=1;ODDS=1254.46;PAIRED=0.875676;PAIREDR=0.910194;PAO=0;PQA=0;PQR=0;PRO=0;QA=10619;QR=12806;RO=412;RPL=242;RPP=79.2818;RPPR=94.8446;RPR=128;RUN=1;SAF=167;SAP=10.6163;SAR=203;SF=0;SRF=174;SRP=24.5985;SRR=238;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon16:c.G2519A:p.R840H,FLNC:NM_001458:exon16:c.G2519A:p.R840H;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs376472014;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.362e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.516e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.178;SIFT_pred=T;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=0.316;LRT_pred=N;MutationTaster_score=0.830;MutationTaster_pred=N;MutationAssessor_score=2.085;MutationAssessor_pred=M;FATHMM_score=-1.93;FATHMM_pred=D;PROVEAN_score=-1.38;PROVEAN_pred=N;VEST3_score=0.131;CADD_raw=2.091;CADD_phred=16.80;DANN_score=0.977;fathmm-MKL_coding_score=0.319;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.382;MetaSVM_pred=T;MetaLR_score=0.489;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-2.1;phyloP7way_vertebrate=-0.310;phyloP20way_mammalian=-0.216;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.581;SiPhy_29way_logOdds=12.540;GDI_full_10282015=.;dpsi_max_tissue=-0.2598;dpsi_zscore=-0.792;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.033e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.588e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-561.487,0,-718.008:822:412:370:10619:12806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128484236 . C G 4160.56 . AB=0.465241;ABP=8.89766;AC=1;AF=0.5;AN=2;AO=261;CIGAR=1X;DP=561;DPB=561;DPRA=0;EPP=3.41797;EPPR=11.5485;GTI=0;LEN=1;MEANALT=3;MQM=33.728;MQMR=34.2449;NS=1;NUMALT=1;ODDS=958.004;PAIRED=0.954023;PAIREDR=0.928571;PAO=0;PQA=0;PQR=0;PRO=0;QA=7692;QR=8907;RO=294;RPL=165;RPP=42.621;RPPR=29.5998;RPR=96;RUN=1;SAF=101;SAP=31.9716;SAR=160;SF=0;SRF=125;SRP=17.3095;SRR=169;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=FLNC:NM_001127487:exon20:c.C3108G:p.Y1036X,FLNC:NM_001458:exon20:c.C3108G:p.Y1036X;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=11.605;CADD_phred=37;DANN_score=0.997;fathmm-MKL_coding_score=0.911;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.05;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.807;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.156;GDI_full_10282015=.;dpsi_max_tissue=-15.5491;dpsi_zscore=-3.096;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-430.816,0,-523.796:561:294:261:7692:8907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128484816 . A G 8648.73 . AB=0.513648;ABP=4.96624;AC=37;AF=0.5;AN=66;AO=621;CIGAR=1X;DP=32984;DPB=1209;DPRA=0;EPP=14.3712;EPPR=4.02843;GTI=0;LEN=1;MEANALT=3;MQM=30.5974;MQMR=33.5916;NS=1;NUMALT=1;ODDS=1950.08;PAIRED=0.938808;PAIREDR=0.913919;PAO=0;PQA=0;PQR=0;PRO=0;QA=16940;QR=15779;RO=546;RPL=325;RPP=5.95105;RPPR=3.0103;RPR=296;RUN=1;SAF=389;SAP=89.2013;SAR=232;SF=0,1;SRF=340;SRP=74.4223;SRR=206;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.A3297G:p.V1099V,FLNC:NM_001458:exon21:c.A3297G:p.V1099V;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.2807;esp6500siv2_ea=0.1648;esp6500siv2_all=0.2807;esp6500siv2_ea=0.1648;1000g2015aug_all=0.379992;avsnp147=rs3734973;Kaviar_AF=0.227856;Kaviar_AC=35227;Kaviar_AN=154602;ExAC_ALL=0.2340;ExAC_AFR=0.5526;ExAC_AMR=0.2237;ExAC_EAS=0.4585;ExAC_FIN=0.1367;ExAC_NFE=0.1635;ExAC_OTH=0.1982;ExAC_SAS=0.2604;CLNALLELEID=134530;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0144;dpsi_zscore=0.099;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2240;gnomAD_exome_AFR=0.5542;gnomAD_exome_AMR=0.2077;gnomAD_exome_ASJ=0.1311;gnomAD_exome_EAS=0.4601;gnomAD_exome_FIN=0.1384;gnomAD_exome_NFE=0.1643;gnomAD_exome_OTH=0.2014;gnomAD_exome_SAS=0.2574;gnomAD_genome_ALL=0.2941;gnomAD_genome_AFR=0.5591;gnomAD_genome_AMR=0.2208;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.4541;gnomAD_genome_FIN=0.1374;gnomAD_genome_NFE=0.1724;gnomAD_genome_OTH=0.2092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-894.632,0,-863.289:1209:546:621:16940:15779 0/1:-811.098,0,-592.471:931:394:496:13964:11187 . 0/1:-732.734,0,-780.222:1068:518:519:14173:14646 0/1:-989.217,0,-1045.83:1394:667:669:18335:19701 0/1:-626.252,0,-717.137:893:441:422:11628:12711 . . . . . 0/1:-647.858,0,-700.743:955:458:463:12640:13192 . . . . . . . 0/1:-553.995,0,-648.34:812:406:383:10204:11570 . . . 0/1:-733.436,0,-981.882:1171:603:535:14508:17632 . . . . 0/1:-583.163,0,-710.074:844:413:411:11143:12269 0/1:-616.429,0,-591.493:783:358:401:11377:10593 1/1:-2186.47,-275.899,0:1116:21:1068:29929:647 . 0/1:-730.016,0,-984.473:1215:626:534:14324:17742 0/1:-601.457,0,-747.379:921:460:432:11860:13371 . . . . . . . 0/1:-762.157,0,-813.526:1046:505:512:14290:14820 . . . . . . . . 0/1:-666.29,0,-737.93:1007:478:486:12875:13880 0/1:-785.717,0,-846.972:1137:547:553:14890:15677 . . . . 1/1:-1133.5,-155.684,0:641:20:607:16377:450 0/1:-426.821,0,-607.416:713:365:320:8439:10341 . 0/1:-393.386,0,-512.458:660:337:297:7932:9640 1/1:-2638.68,-351.302,0:1392:30:1331:36078:743 0/1:-662.382,0,-844.487:996:491:468:12775:14319 . 0/1:-910.771,0,-935.595:1224:581:605:16767:16505 . . . . . . 0/1:-943.318,0,-983.506:1259:603:621:17347:17395 . . 0/1:-598.574,0,-664.046:850:392:427:11306:11818 0/1:-835.612,0,-1062.95:1317:662:608:16431:19085 . . . 0/1:-410.463,0,-430.573:585:274:280:7677:7969 . . . . . . . . . . 0/1:-963.05,0,-960.772:1328:630:661:17845:17937 . 0/1:-971.877,0,-990.18:1305:614:649:17450:17711 . . . . 0/1:-860.374,0,-954.653:876:438:426:13129:14084:438,426 . . . . . . . . . 0/1:-736.695,0,-801.224:752:382:366:11352:11934:382,366 0/1:-842.551,0,-932.5:882:450:419:12953:14084:450,419 . . . 0/1:-957.099,0,-1029.82:977:487:475:14478:15312:487,475 . 1/1:-1858.79,-197.33,0:725:7:711:21982:222:7,711 . chr7 128484823 . C T 7385.75 . AB=0.448276;ABP=28.6187;AC=1;AF=0.5;AN=2;AO=494;CIGAR=1X;DP=1102;DPB=1102;DPRA=0;EPP=3.08063;EPPR=10.1301;GTI=0;LEN=1;MEANALT=3;MQM=33.1336;MQMR=33.0967;NS=1;NUMALT=1;ODDS=1700.63;PAIRED=0.935223;PAIREDR=0.920074;PAO=0;PQA=0;PQR=0;PRO=0;QA=13835;QR=16001;RO=538;RPL=212;RPP=24.5492;RPPR=3.07488;RPR=282;RUN=1;SAF=321;SAP=99.2936;SAR=173;SF=0;SRF=355;SRP=122.417;SRR=183;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.C3304T:p.P1102S,FLNC:NM_001458:exon21:c.C3304T:p.P1102S;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs199707920;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=9.12e-05;ExAC_AFR=0.0001;ExAC_AMR=8.643e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=522461;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.655;MutationAssessor_pred=H;FATHMM_score=-3.47;FATHMM_pred=D;PROVEAN_score=-6.66;PROVEAN_pred=D;VEST3_score=0.747;CADD_raw=5.914;CADD_phred=27.5;DANN_score=0.999;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=1.086;MetaSVM_pred=D;MetaLR_score=0.943;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.54;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.512;GDI_full_10282015=.;dpsi_max_tissue=0.0067;dpsi_zscore=0.045;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.751e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-758.844,0,-892.095:1102:538:494:13835:16001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128485323 . A G 2333.24 . AB=0.49863;ABP=3.01625;AC=1;AF=0.5;AN=2;AO=182;CIGAR=1X;DP=365;DPB=365;DPRA=0;EPP=26.109;EPPR=24.4569;GTI=0;LEN=1;MEANALT=3;MQM=30.8791;MQMR=31.1667;NS=1;NUMALT=1;ODDS=467.248;PAIRED=0.994505;PAIREDR=0.969136;PAO=0;PQA=0;PQR=0;PRO=0;QA=5043;QR=4733;RO=162;RPL=125;RPP=58.18;RPPR=84.5612;RPR=57;RUN=1;SAF=16;SAP=271.462;SAR=166;SF=0;SRF=19;SRP=209.113;SRR=143;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749303411;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=9.426e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.693e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0089;dpsi_zscore=0.060;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.175e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.293e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-279.582,0,-243.897:365:162:182:5043:4733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128486091 . C T 8193.85 . AB=0.521144;ABP=6.13247;AC=4;AF=0.5;AN=8;AO=419;CIGAR=1X;DP=4927;DPB=804;DPRA=0;EPP=42.2367;EPPR=72.3247;GTI=0;LEN=1;MEANALT=3;MQM=31.1098;MQMR=33.4119;NS=1;NUMALT=1;ODDS=1262.12;PAIRED=0.894988;PAIREDR=0.801136;PAO=0;PQA=0;PQR=0;PRO=0;QA=11044;QR=10495;RO=352;RPL=160;RPP=53.8041;RPPR=29.8823;RPR=259;RUN=1;SAF=230;SAP=11.7221;SAR=189;SF=0,1;SRF=186;SRP=5.47788;SRR=166;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon22:c.C3838T:p.L1280L,FLNC:NM_001458:exon22:c.C3838T:p.L1280L;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0345;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0345;1000g2015aug_all=0.0197684;avsnp147=rs34180031;Kaviar_AF=0.0322117;Kaviar_AC=4980;Kaviar_AN=154602;ExAC_ALL=0.0333;ExAC_AFR=0.0238;ExAC_AMR=0.0097;ExAC_EAS=0.0002;ExAC_FIN=0.0710;ExAC_NFE=0.0398;ExAC_OTH=0.025;ExAC_SAS=0.0316;CLNALLELEID=134533;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0254;dpsi_zscore=-0.138;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0326;gnomAD_exome_AFR=0.0250;gnomAD_exome_AMR=0.0106;gnomAD_exome_ASJ=0.0205;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0759;gnomAD_exome_NFE=0.0386;gnomAD_exome_OTH=0.0291;gnomAD_exome_SAS=0.0303;gnomAD_genome_ALL=0.0391;gnomAD_genome_AFR=0.0263;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0267;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0684;gnomAD_genome_NFE=0.0448;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-582.382,0,-567.014:804:352:419:11044:10495 . . . . . . . . . . . . . . . . 0/1:-954.237,0,-1252.04:1432:718:657:17845:21939 . . . . 0/1:-778.482,0,-1241.37:1368:727:592:15885:22461 . . . . . . . . . . . . . . . . . . . . 0/1:-1176.07,0,-1450.67:1323:676:609:18523:21647:676,609 . . . . . . . . . . . . chr7 128486363 . C T 7928.15 . AB=0.444149;ABP=33.5726;AC=35;AF=0.5;AN=64;AO=501;CIGAR=1X;DP=35369;DPB=1128;DPRA=0;EPP=31.4475;EPPR=33.653;GTI=0;LEN=1;MEANALT=3;MQM=30.4232;MQMR=30.6115;NS=1;NUMALT=1;ODDS=1436.41;PAIRED=0.872255;PAIREDR=0.872822;PAO=0;PQA=0;PQR=0;PRO=0;QA=13317;QR=17267;RO=574;RPL=179;RPP=91.6419;RPPR=90.414;RPR=322;RUN=1;SAF=294;SAP=35.8164;SAR=207;SF=0,1;SRF=313;SRP=13.2397;SRR=261;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.C3973T:p.L1325L,FLNC:NM_001458:exon23:c.C3973T:p.L1325L;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.2836;esp6500siv2_ea=0.1622;esp6500siv2_all=0.2836;esp6500siv2_ea=0.1622;1000g2015aug_all=0.346046;avsnp147=rs34373805;Kaviar_AF=0.221077;Kaviar_AC=34179;Kaviar_AN=154602;ExAC_ALL=0.2290;ExAC_AFR=0.5497;ExAC_AMR=0.2241;ExAC_EAS=0.4184;ExAC_FIN=0.1685;ExAC_NFE=0.1711;ExAC_OTH=0.1993;ExAC_SAS=0.2018;CLNALLELEID=134534;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2035;dpsi_zscore=-0.694;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2183;gnomAD_exome_AFR=0.5511;gnomAD_exome_AMR=0.2083;gnomAD_exome_ASJ=0.1472;gnomAD_exome_EAS=0.4233;gnomAD_exome_FIN=0.1691;gnomAD_exome_NFE=0.1667;gnomAD_exome_OTH=0.1959;gnomAD_exome_SAS=0.1988;gnomAD_genome_ALL=0.2939;gnomAD_genome_AFR=0.5552;gnomAD_genome_AMR=0.2184;gnomAD_genome_ASJ=0.1623;gnomAD_genome_EAS=0.4122;gnomAD_genome_FIN=0.1621;gnomAD_genome_NFE=0.1717;gnomAD_genome_OTH=0.2235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-647.969,0,-909.033:1128:574:501:13317:17267 0/1:-646.659,0,-847.032:1017:508:463:12821:15235 . 0/1:-634.939,0,-852.594:1046:532:455:12676:15872 0/1:-652.237,0,-1349.15:1412:776:562:15550:23405 0/1:-596.465,0,-835.087:966:502:432:11725:15153 . . . . . 0/1:-695.675,0,-796.681:1101:531:519:13936:15734 . . . . . . . . . . . 0/1:-512.513,0,-1170.91:1169:663:453:12265:19881 . . . . 0/1:-494.109,0,-831.462:891:475:378:10260:14639 0/1:-511.974,0,-698.485:902:440:413:11251:12995 1/1:-2034.4,-302.175,0:1166:18:1072:29242:400 . 0/1:-729.088,0,-1052.72:1269:644:555:14903:18975 0/1:-728.041,0,-871.715:1037:511:482:13447:15515 . . . . . . . 0/1:-774.519,0,-840.554:1106:506:543:14990:15297 . . . . . . . . 0/1:-470.669,0,-705.722:914:470:391:10516:13924 0/1:-912.557,0,-1038.66:1332:650:630:17190:19432 . . . . 0/1:-212.528,0,-426.459:528:289:211:5561:8391 0/1:-489.731,0,-625.56:792:404:357:9564:11757 . 1/1:-958.735,-132.479,0:563:13:512:14131:346 1/1:-2366.03,-322.686,0:1373:39:1241:33041:908 0/1:-510.248,0,-919.42:1020:557:420:11207:16480 . 0/1:-714.889,0,-1023.13:1206:618:541:15126:18647 . . . . . . 0/1:-963.015,0,-1309.73:1546:788:682:19046:23599 . . . 0/1:-793.475,0,-1287.2:1489:769:640:16866:23175 . 0/1:-783.194,0,-1121.82:1281:671:552:15100:19768 . 0/1:-343.648,0,-567.344:642:333:288:7441:10078 . . 0/1:-798.016,0,-992.88:1261:602:592:15802:18154 . . . . . . . . . 0/1:-773.724,0,-1216.38:1369:717:592:15513:21182 . . . . 0/1:-1002.18,0,-1325.76:1177:610:546:16592:19523:610,546 . . . . . 0/1:-1289.86,0,-1415.51:1354:674:653:20052:21268:674,653 . . . 0/1:-902.389,0,-1136.37:1030:536:475:14426:16879:536,475 . . . . 0/1:-1146.68,0,-1478.27:1315:698:597:18087:21877:698,597 . 0/1:-880.959,0,-1062.98:967:489:462:13854:15638:489,462 . chr7 128486412 . G A 7289.73 . AB=0.427786;ABP=60.7162;AC=1;AF=0.5;AN=2;AO=545;CIGAR=1X;DP=1274;DPB=1274;DPRA=0;EPP=11.8117;EPPR=15.5922;GTI=0;LEN=1;MEANALT=3;MQM=32.5101;MQMR=32.5985;NS=1;NUMALT=1;ODDS=1678.52;PAIRED=0.851376;PAIREDR=0.867153;PAO=0;PQA=0;PQR=0;PRO=0;QA=14688;QR=20608;RO=685;RPL=319;RPP=37.471;RPPR=44.934;RPR=226;RUN=1;SAF=278;SAP=3.49241;SAR=267;SF=0;SRF=353;SRP=4.40828;SRR=332;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.G4022A:p.R1341Q,FLNC:NM_001458:exon23:c.G4022A:p.R1341Q;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0018;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0018;1000g2015aug_all=0.000798722;avsnp147=rs149641783;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0004;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0034;ExAC_SAS=0.0006;CLNALLELEID=192902;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.616;SIFT_pred=T;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.559;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.185;MutationAssessor_pred=L;FATHMM_score=-1.89;FATHMM_pred=D;PROVEAN_score=-0.99;PROVEAN_pred=N;VEST3_score=0.587;CADD_raw=5.915;CADD_phred=27.5;DANN_score=0.992;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.191;MetaSVM_pred=T;MetaLR_score=0.501;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.07;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.949;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=18.451;GDI_full_10282015=.;dpsi_max_tissue=-0.1447;dpsi_zscore=-0.569;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0080;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-744.865,0,-1171.26:1274:685:545:14688:20608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128486446 . C T 7179.22 . AB=0.422424;ABP=89.2586;AC=9;AF=0.5;AN=18;AO=697;CIGAR=1X;DP=10798;DPB=1650;DPRA=0;EPP=3.53681;EPPR=9.57011;GTI=0;LEN=1;MEANALT=3;MQM=30.4577;MQMR=32.8641;NS=1;NUMALT=1;ODDS=1970.64;PAIRED=0.873745;PAIREDR=0.860627;PAO=0;PQA=0;PQR=0;PRO=0;QA=18260;QR=26522;RO=861;RPL=329;RPP=7.74891;RPPR=43.6882;RPR=368;RUN=1;SAF=393;SAP=27.6878;SAR=304;SF=0,1;SRF=451;SRP=7.24984;SRR=410;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.C4056T:p.R1352R,FLNC:NM_001458:exon23:c.C4056T:p.R1352R;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0795;esp6500siv2_ea=0.0401;esp6500siv2_all=0.0795;esp6500siv2_ea=0.0401;1000g2015aug_all=0.160543;avsnp147=rs75770585;Kaviar_AF=0.0846626;Kaviar_AC=13089;Kaviar_AN=154602;ExAC_ALL=0.0895;ExAC_AFR=0.1731;ExAC_AMR=0.1647;ExAC_EAS=0.3258;ExAC_FIN=0.0234;ExAC_NFE=0.0420;ExAC_OTH=0.0709;ExAC_SAS=0.0835;CLNALLELEID=134535;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0858;dpsi_zscore=-0.404;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0882;gnomAD_exome_AFR=0.1730;gnomAD_exome_AMR=0.1472;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.3274;gnomAD_exome_FIN=0.0266;gnomAD_exome_NFE=0.0409;gnomAD_exome_OTH=0.0703;gnomAD_exome_SAS=0.0847;gnomAD_genome_ALL=0.0947;gnomAD_genome_AFR=0.1798;gnomAD_genome_AMR=0.1289;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.3098;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0396;gnomAD_genome_OTH=0.0643;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-870.84,0,-1501.76:1650:861:697:18260:26522 . . . . . . . . . . . . . . . . . . 0/1:-733.429,0,-1402.93:1434:773:585:15789:23625 . . . . . 0/1:-590.52,0,-889.211:1040:523:465:12205:15966 0/1:-866.666,0,-1130.06:1445:700:677:17702:21518 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-339.641,0,-573.09:685:345:297:7583:10480 . . 0/1:-312.178,0,-739.21:761:436:295:7569:13282 . 0/1:-617.126,0,-1085.59:1175:609:515:13436:19208 . 0/1:-876.796,0,-1119.96:1404:667:654:17485:20517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1112.84,0,-1286.35:1204:602:585:17554:19081:602,585 . . . . . . . . . . . . . . . . . . chr7 128487866 . T C 27827.89 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=957;CIGAR=1X;DP=164462;DPB=986;DPRA=0;EPP=57.524;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=25.5444;MQMR=19.3333;NS=1;NUMALT=1;ODDS=1315.4;PAIRED=0.761755;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=27452;QR=42;RO=3;RPL=552;RPP=52.042;RPPR=9.52472;RPR=405;RUN=1;SAF=608;SAP=155.22;SAR=349;SF=0,1;SRF=3;SRP=9.52472;SRR=0;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon25:c.T4404C:p.D1468D,FLNC:NM_001458:exon25:c.T4404C:p.D1468D;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.9913;esp6500siv2_ea=1;esp6500siv2_all=0.9913;esp6500siv2_ea=1;1000g2015aug_all=0.990615;avsnp147=rs2249128;Kaviar_AF=0.942122;Kaviar_AC=145654;Kaviar_AN=154602;ExAC_ALL=0.9973;ExAC_AFR=0.9695;ExAC_AMR=0.9987;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9989;ExAC_SAS=0.9999;CLNALLELEID=229552;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5013;dpsi_zscore=1.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9978;gnomAD_exome_AFR=0.9688;gnomAD_exome_AMR=0.9989;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9984;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9915;gnomAD_genome_AFR=0.9704;gnomAD_genome_AMR=0.9952;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1740.38,-286.441,0:986:3:957:27452:42 1/1:-2645.5,-423.766,0:1463:7:1422:41259:131 1/1:-2272.65,-363.387,0:1243:4:1216:35539:70 1/1:-1682.24,-269.797,0:920:3:899:25541:49 1/1:-2364.74,-385.301,0:1330:7:1286:36901:136 1/1:-3340.74,-536.396,0:1860:9:1801:52172:133 1/1:-2097.08,-328.442,0:1142:5:1107:32080:126 1/1:-2811.4,-439.218,0:1512:3:1465:42257:42 1/1:-2574.25,-385.198,0:1339:8:1302:37619:132 1/1:-2490.29,-398.563,0:1385:9:1342:38246:180 1/1:-2191.44,-350.024,0:1213:3:1175:33662:75 1/1:-2304.42,-361.958,0:1237:2:1207:34601:35 1/1:-2288.33,-357.006,0:1218:3:1187:34622:56 1/1:-1720.05,-287.342,0:988:4:964:27550:69 1/1:-1847.1,-294.52,0:1007:2:984:28798:64 1/1:-3446.01,-538.167,0:1875:11:1810:52772:203 1/1:-1538.62,-252.825,0:883:5:850:24349:70 1/1:-5626.33,-880.094,0:3015:4:2932:84866:56 1/1:-2282.36,-352.6,0:1225:8:1188:34331:161 1/1:-1739.74,-275.768,0:971:5:935:26801:101 1/1:-1833.64,-280.56,0:970:4:934:26760:63 1/1:-2699.9,-426.895,0:1469:8:1433:41051:138 1/1:-1159.93,-207.385,0:716:2:695:19574:28 1/1:-3162.9,-516.314,0:1763:1:1715:49462:14 1/1:-2582.8,-425.785,0:1455:3:1414:39707:60 1/1:-1683.86,-274.981,0:952:3:921:26260:49 1/1:-2724.05,-434.133,0:1483:1:1442:41310:14 1/1:-2086.69,-341.82,0:1201:7:1151:33133:123 1/1:-1653.81,-291.656,0:1004:1:970:27341:14 1/1:-2151.91,-338.166,0:1179:7:1138:33016:112 1/1:-1991.17,-324.846,0:1135:4:1102:31510:100 1/1:-2567.39,-387.495,0:1357:7:1318:39438:173 1/1:-2877.1,-445.193,0:1544:7:1494:43457:116 1/1:-3350.64,-524.132,0:1796:3:1742:50217:55 1/1:-2408.69,-377.48,0:1284:1:1257:36729:14 1/1:-3084.03,-480.181,0:1675:9:1627:47183:173 1/1:-3784.93,-597.735,0:2046:3:1993:56693:42 1/1:-2027.95,-316.468,0:1086:3:1057:31065:60 1/1:-2386.7,-396.936,0:1352:2:1323:37695:35 1/1:-1857.14,-291.656,0:1004:1:970:28126:14 1/1:-2750.13,-434.681,0:1499:3:1448:42217:42 1/1:-2659.56,-419.197,0:1441:4:1404:40358:78 1/1:-2691.19,-420.497,0:1445:4:1401:40931:74 1/1:-2257.13,-354.409,0:1218:2:1177:34146:28 1/1:-2685.1,-423.156,0:1464:5:1412:41015:70 1/1:-2553.9,-398.441,0:1376:5:1332:38848:119 1/1:-2637.02,-404.302,0:1377:3:1351:39755:62 1/1:-1510.68,-238.04,0:829:5:802:23006:110 1/1:-2042.17,-316.603,0:1093:3:1061:30829:42 1/1:-2954.88,-461.618,0:1595:5:1551:45056:95 1/1:-2901.01,-451.716,0:1557:5:1512:43503:70 1/1:-2019.42,-347.083,0:1205:6:1163:32207:127 1/1:-2770.44,-435.881,0:1507:3:1458:42237:64 1/1:-3173.03,-499.739,0:1731:6:1677:48472:115 1/1:-1643.71,-274.329,0:951:5:915:26187:70 1/1:-1961.48,-301.929,0:1030:3:1007:29136:42 1/1:-2714.36,-447.596,0:1546:6:1505:42658:137 1/1:-1109.46,-198.368,0:693:3:665:18695:60 1/1:-1816.31,-286.873,0:994:5:958:27992:70 1/1:-3140.9,-507.082,0:1735:4:1688:48122:74 1/1:-1452.52,-240.309,0:840:4:816:23551:87 1/1:-3387.87,-527.569,0:1826:6:1769:51028:104 1/1:-2400.11,-372.308,0:1298:6:1262:36768:146 1/1:-1585.64,-259.687,0:905:6:875:25639:97 1/1:-2628.67,-433.89,0:1493:5:1455:42037:77 1/1:-2631.01,-413.645,0:1422:5:1381:39774:70 1/1:-1293.37,-215.588,0:733:1:716:20798:14 1/1:-2604.34,-401.472,0:1390:5:1348:39147:95 1/1:-2768.15,-433.836,0:1490:5:1450:42128:70 1/1:-2641.83,-416.8,0:1446:9:1400:40476:126 1/1:-2703.77,-418.517,0:1459:8:1412:40730:168 1/1:-3644.19,-564.746,0:1961:9:1905:55532:175 1/1:-2534.51,-400.955,0:1404:9:1355:39549:193 1/1:-1299.01,-228.53,0:789:1:759:21469:14 1/1:-1936.55,-305.506,0:1054:4:1019:29346:74 1/1:-3140.94,-503.882,0:1734:1:1675:48352:14 1/1:-2901.81,-455.411,0:1567:5:1523:43605:70 1/1:-2970.63,-460.499,0:1587:6:1537:44424:97 1/1:-1683.44,-265.97,0:925:5:894:25488:77 1/1:-1546.91,-233.949,0:803:1:777:22983:14 1/1:-2601.7,-417.862,0:1456:7:1405:39733:149 1/1:-3039.31,-486.747,0:1689:7:1639:47369:142 1/1:-3332.85,-517.308,0:1781:8:1729:49998:119 1/1:-2323.53,-364.703,0:1265:3:1219:35025:55 1/1:-2402.22,-393.806,0:1356:5:1310:37781:70 1/1:-2413.35,-380.938,0:1308:3:1271:37185:55 1/1:-1783.07,-278.818,0:971:5:943:27233:84 1/1:-2879.75,-449.32,0:1556:4:1500:42916:63 1/1:-1668.11,-254.417,0:865:1:851:25004:36 1/1:-1981.76,-321.756,0:1129:8:1087:31233:159 1/1:-3431.51,-519.059,0:1791:5:1740:50864:106 1/1:-2370.16,-365.881,0:1273:8:1234:36032:168 1/1:-3375.98,-509.351,0:1791:8:1718:50461:143 1/1:-2954.31,-453.61,0:1567:5:1518:44157:77 1/1:-2876.59,-465.361,0:1602:4:1550:44703:74 . 1/1:-5255.46,-622.387,0:2108:3:2075:64917:55:3,2075 1/1:-4673.07,-559.181,0:1914:11:1878:58884:176:11,1878 1/1:-4971.75,-583.538,0:1974:3:1952:61433:64:3,1952 1/1:-3795.61,-456.009,0:1545:2:1519:47078:28:2,1519 1/1:-4354.36,-521.485,0:1777:3:1744:54163:55:3,1744 1/1:-4820.07,-576.743,0:1986:7:1937:60099:105:7,1937 1/1:-4620.56,-549.016,0:1883:11:1846:57421:161:11,1846 1/1:-5340.02,-638.621,0:2160:4:2126:66497:56:4,2126 1/1:-4509.02,-532.977,0:1850:9:1809:56257:188:9,1809 1/1:-4973.96,-606.762,0:2077:7:2036:62837:145:7,2036 1/1:-5146.33,-610.961,0:2089:7:2044:63914:98:7,2044 1/1:-3745.67,-443.046,0:1501:3:1479:46607:42:3,1479 1/1:-4260.49,-510.768,0:1743:5:1715:53122:92:5,1715 1/1:-4190.37,-498.918,0:1692:3:1666:52059:60:3,1666 1/1:-4818.57,-580.281,0:1975:7:1944:60321:98:7,1944 1/1:-4524.06,-539.475,0:1848:4:1815:56202:91:4,1815 1/1:-4960.43,-589.279,0:2013:6:1976:61656:119:6,1976 1/1:-4227.7,-500.329,0:1706:3:1672:52460:77:3,1672 1/1:-3866.48,-467.416,0:1603:7:1569:48486:105:7,1569 1/1:-4715.7,-563.074,0:1923:6:1885:58847:84:6,1885 chr7 128487893 . G A 7521.72 . AB=0.436383;ABP=67.937;AC=9;AF=0.5;AN=18;AO=806;CIGAR=1X;DP=12143;DPB=1847;DPRA=0;EPP=220.308;EPPR=34.8702;GTI=0;LEN=1;MEANALT=3;MQM=25.3089;MQMR=25.3269;NS=1;NUMALT=1;ODDS=2098.86;PAIRED=0.818859;PAIREDR=0.777063;PAO=0;PQA=0;PQR=0;PRO=0;QA=23572;QR=28237;RO=933;RPL=515;RPP=138.191;RPPR=142.713;RPR=291;RUN=1;SAF=476;SAP=60.4385;SAR=330;SF=0,1;SRF=574;SRP=110.595;SRR=359;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon25:c.G4431A:p.L1477L,FLNC:NM_001458:exon25:c.G4431A:p.L1477L;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1418;esp6500siv2_ea=0.0433;esp6500siv2_all=0.1418;esp6500siv2_ea=0.0433;1000g2015aug_all=0.257788;avsnp147=rs2291568;Kaviar_AF=0.115917;Kaviar_AC=17921;Kaviar_AN=154602;ExAC_ALL=0.1230;ExAC_AFR=0.3780;ExAC_AMR=0.1746;ExAC_EAS=0.3610;ExAC_FIN=0.0235;ExAC_NFE=0.0446;ExAC_OTH=0.0874;ExAC_SAS=0.1700;CLNALLELEID=134536;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5530;dpsi_zscore=1.185;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1168;gnomAD_exome_AFR=0.3809;gnomAD_exome_AMR=0.1578;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.3611;gnomAD_exome_FIN=0.0271;gnomAD_exome_NFE=0.0439;gnomAD_exome_OTH=0.0881;gnomAD_exome_SAS=0.1696;gnomAD_genome_ALL=0.1587;gnomAD_genome_AFR=0.3920;gnomAD_genome_AMR=0.1444;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.3449;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0428;gnomAD_genome_OTH=0.0808;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-963.533,0,-1233.43:1847:933:806:23572:28237 . . . . . . . . . . . . . . . . . . 0/1:-718.061,0,-1039.12:1448:753:590:17273:22779 . . . . . 0/1:-582.025,0,-713.002:1149:558:519:14589:16681 0/1:-582.731,0,-1152.08:1361:766:516:14758:23787 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-280.81,0,-432.559:675:340:295:8278:10407 . . 0/1:-464.377,0,-557.059:874:422:396:11246:13032 . 0/1:-667.35,0,-958.534:1312:663:565:16233:20265 . 0/1:-796.358,0,-961.626:1475:717:676:19222:21986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1535.01,0,-1949.64:2002:1013:911:27039:31122:1013,911 . . . . . . . . . . . . . . . . . . chr7 128488030 . T C 7211.31 . AB=0.484277;ABP=5.40029;AC=1;AF=0.5;AN=2;AO=539;CIGAR=1X;DP=1113;DPB=1113;DPRA=0;EPP=6.88189;EPPR=9.2538;GTI=0;LEN=1;MEANALT=3;MQM=28.5121;MQMR=30.5539;NS=1;NUMALT=1;ODDS=1660.47;PAIRED=0.849722;PAIREDR=0.827977;PAO=0;PQA=0;PQR=0;PRO=0;QA=15541;QR=15101;RO=529;RPL=285;RPP=6.88189;RPPR=20.3533;RPR=254;RUN=1;SAF=232;SAP=25.6718;SAR=307;SF=0;SRF=253;SRP=5.18177;SRR=276;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon26:c.T4488C:p.N1496N,FLNC:NM_001458:exon26:c.T4488C:p.N1496N;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs377258966;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0014;ExAC_SAS=0.0002;CLNALLELEID=492692;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0544;dpsi_zscore=-0.285;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.241e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.699e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-732.199,0,-758.088:1113:529:539:15541:15101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128488734 . G A 8976.02 . AB=0.465395;ABP=17.7383;AC=21;AF=0.5;AN=40;AO=659;CIGAR=1X;DP=25654;DPB=1416;DPRA=0;EPP=45.0855;EPPR=29.883;GTI=0;LEN=1;MEANALT=3;MQM=29.3627;MQMR=30.8838;NS=1;NUMALT=1;ODDS=1817.05;PAIRED=0.828528;PAIREDR=0.831933;PAO=0;PQA=0;PQR=0;PRO=0;QA=17983;QR=22086;RO=714;RPL=434;RPP=146.944;RPPR=108.226;RPR=225;RUN=1;SAF=324;SAP=3.40901;SAR=335;SF=0,1;SRF=348;SRP=3.99567;SRR=366;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon27:c.G4700A:p.R1567Q,FLNC:NM_001458:exon27:c.G4700A:p.R1567Q;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0650;esp6500siv2_ea=0.0850;esp6500siv2_all=0.0650;esp6500siv2_ea=0.0850;1000g2015aug_all=0.0625;avsnp147=rs2291569;Kaviar_AF=0.0760145;Kaviar_AC=11752;Kaviar_AN=154602;ExAC_ALL=0.0764;ExAC_AFR=0.0198;ExAC_AMR=0.0342;ExAC_EAS=0.0959;ExAC_FIN=0.0702;ExAC_NFE=0.0879;ExAC_OTH=0.0802;ExAC_SAS=0.0848;CLNALLELEID=134537;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.067;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=3.075;MutationAssessor_pred=M;FATHMM_score=-2.08;FATHMM_pred=D;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.197;CADD_raw=4.924;CADD_phred=25.0;DANN_score=0.999;fathmm-MKL_coding_score=0.841;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.467;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.09;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.530;phastCons20way_mammalian=0.015;SiPhy_29way_logOdds=12.724;GDI_full_10282015=.;dpsi_max_tissue=-0.4101;dpsi_zscore=-0.995;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0746;gnomAD_exome_AFR=0.0186;gnomAD_exome_AMR=0.0341;gnomAD_exome_ASJ=0.1085;gnomAD_exome_EAS=0.0973;gnomAD_exome_FIN=0.0679;gnomAD_exome_NFE=0.0866;gnomAD_exome_OTH=0.0828;gnomAD_exome_SAS=0.0824;gnomAD_genome_ALL=0.0673;gnomAD_genome_AFR=0.0214;gnomAD_genome_AMR=0.0430;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.1063;gnomAD_genome_FIN=0.0675;gnomAD_genome_NFE=0.0886;gnomAD_genome_OTH=0.0927;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-816.687,0,-1153.94:1416:714:659:17983:22086 0/1:-492.663,0,-1104.22:1092:634:421:11851:19603 . 0/1:-715.934,0,-899.146:1187:601:536:15139:18479 . 0/1:-655.793,0,-887.171:1075:550:489:13962:16807 . . . . . . . . . . . . . . . . . . . . . . 0/1:-676.44,0,-783.679:979:478:468:13473:14904 . 0/1:-1018.26,0,-1245.6:1442:714:680:19766:22704 . 0/1:-882.676,0,-1044.87:1414:682:675:19223:20761 0/1:-655.131,0,-1171.05:1192:655:501:13912:20799 . . . . . . . 0/1:-807.032,0,-1089.27:1304:644:610:17259:19930 . . . . . . . . 0/1:-571.857,0,-1081.3:1186:660:487:13365:20448 0/1:-851.197,0,-1231.72:1407:736:618:17307:22927 . . . . . 0/1:-512.876,0,-708.53:866:439:392:10750:13679 . . 1/1:-2758.16,-351.419,0:1569:47:1441:40104:1350 . . . . . . . . . 0/1:-992.528,0,-1406.2:1595:810:718:20489:25417 . . . 0/1:-956.961,0,-1364.42:1636:843:729:20097:25692 . . . 0/1:-415.971,0,-629.063:729:377:319:9123:11685 . . . . . . . . . . . . 0/1:-1082.52,0,-1324.45:1646:810:771:21831:24931 . . . . . . . . . . . . . . 0/1:-1031.05,0,-1099.23:1139:564:560:16729:17254:564,560 . . . . 0/1:-1407.49,0,-1615.71:1585:792:756:23057:25017:792,756 . 0/1:-1088.9,0,-1244.32:1195:614:563:17272:19208:614,563 . chr7 128488786 . A G 8923.35 . AB=0.460362;ABP=22.6351;AC=1;AF=0.5;AN=2;AO=662;CIGAR=1X;DP=1438;DPB=1438;DPRA=0;EPP=26.1552;EPPR=3.2094;GTI=0;LEN=1;MEANALT=3;MQM=31.4592;MQMR=33.3653;NS=1;NUMALT=1;ODDS=2054.68;PAIRED=0.89426;PAIREDR=0.848138;PAO=0;PQA=0;PQR=0;PRO=0;QA=17434;QR=18454;RO=698;RPL=271;RPP=50.2447;RPPR=46.3278;RPR=391;RUN=1;SAF=338;SAP=3.65321;SAR=324;SF=0;SRF=331;SRP=7.04215;SRR=367;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000998403;avsnp147=rs182734223;Kaviar_AF=0.0017141;Kaviar_AC=265;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0005;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0059;ExAC_NFE=0.0023;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=369215;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.2936;dpsi_zscore=-1.985;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0054;gnomAD_exome_NFE=0.0023;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0024;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0030;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-907.856,0,-1001.24:1438:698:662:17434:18454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128488909 . G A 4787.89 . AB=0.430412;ABP=35.6495;AC=1;AF=0.5;AN=2;AO=334;CIGAR=1X;DP=776;DPB=776;DPRA=0;EPP=10.5259;EPPR=5.29579;GTI=0;LEN=1;MEANALT=3;MQM=32.6168;MQMR=34.0621;NS=1;NUMALT=1;ODDS=1102.45;PAIRED=0.88024;PAIREDR=0.894988;PAO=0;PQA=0;PQR=0;PRO=0;QA=9461;QR=12713;RO=419;RPL=181;RPP=8.10741;RPPR=37.0128;RPR=153;RUN=1;SAF=145;SAP=15.597;SAR=189;SF=0;SRF=202;SRP=4.17637;SRR=217;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon28:c.G4800A:p.V1600V,FLNC:NM_001458:exon28:c.G4800A:p.V1600V;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747928612;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.495e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.515e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1817;dpsi_zscore=0.687;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.038e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.505e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-491.009,0,-743.253:776:419:334:9461:12713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128489228 . T C 4616.98 . AB=0.472991;ABP=7.81958;AC=1;AF=0.5;AN=2;AO=359;CIGAR=1X;DP=759;DPB=759;DPRA=0;EPP=94.5206;EPPR=178.703;GTI=0;LEN=1;MEANALT=3;MQM=27.3036;MQMR=29.4674;NS=1;NUMALT=1;ODDS=1063.1;PAIRED=0.713092;PAIREDR=0.730878;PAO=0;PQA=0;PQR=0;PRO=0;QA=10425;QR=10505;RO=353;RPL=120;RPP=88.6655;RPPR=125.308;RPR=239;RUN=1;SAF=171;SAP=4.75837;SAR=188;SF=0;SRF=177;SRP=3.01645;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0049;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0049;1000g2015aug_all=0.00399361;avsnp147=rs201957008;Kaviar_AF=0.0044501;Kaviar_AC=688;Kaviar_AN=154602;ExAC_ALL=0.0047;ExAC_AFR=0.0007;ExAC_AMR=0.0023;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0050;ExAC_OTH=0.0047;ExAC_SAS=0.0114;CLNALLELEID=193328;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.2447;dpsi_zscore=2.471;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0054;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0118;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0038;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-487.552,0,-528.043:759:353:359:10425:10505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128489254 . C T 4711.58 . AB=0.399736;ABP=69.1972;AC=1;AF=0.5;AN=2;AO=303;CIGAR=1X;DP=758;DPB=758;DPRA=0;EPP=73.2499;EPPR=42.2972;GTI=0;LEN=1;MEANALT=3;MQM=35.7261;MQMR=37.0205;NS=1;NUMALT=1;ODDS=1084.88;PAIRED=0.745875;PAIREDR=0.787179;PAO=0;PQA=0;PQR=0;PRO=0;QA=8614;QR=11888;RO=390;RPL=140;RPP=6.80142;RPPR=13.7897;RPR=163;RUN=1;SAF=145;SAP=4.22145;SAR=158;SF=1;SRF=194;SRP=3.03257;SRR=196;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon29:c.C4947T:p.G1649G,FLNC:NM_001458:exon29:c.C4947T:p.G1649G;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0016;1000g2015aug_all=0.000798722;avsnp147=rs201069454;Kaviar_AF=0.0010284;Kaviar_AC=159;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0005;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0012;ExAC_OTH=0.0057;ExAC_SAS=0.0008;CLNALLELEID=252596;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3174;dpsi_zscore=-0.878;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0029;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-487.375,0,-764.101:758:390:303:8614:11888:390,303 . . . . . . . . chr7 128490553 . T C 5112.99 . AB=0.430141;ABP=30.0122;AC=41;AF=0.5;AN=72;AO=274;CIGAR=1X;DP=21072;DPB=637;DPRA=0;EPP=48.7856;EPPR=30.7277;GTI=0;LEN=1;MEANALT=3;MQM=33.7372;MQMR=33.7583;NS=1;NUMALT=1;ODDS=890.414;PAIRED=0.934307;PAIREDR=0.924471;PAO=0;PQA=0;PQR=0;PRO=0;QA=7609;QR=9259;RO=331;RPL=181;RPP=64.3821;RPPR=92.8148;RPR=93;RUN=1;SAF=104;SAP=37.532;SAR=170;SF=0,1;SRF=131;SRP=34.2441;SRR=200;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.3130;esp6500siv2_ea=0.1900;esp6500siv2_all=0.3130;esp6500siv2_ea=0.1900;1000g2015aug_all=0.403355;avsnp147=rs13227216;Kaviar_AF=0.25347;Kaviar_AC=39187;Kaviar_AN=154602;ExAC_ALL=0.2633;ExAC_AFR=0.5993;ExAC_AMR=0.2350;ExAC_EAS=0.4567;ExAC_FIN=0.1905;ExAC_NFE=0.1948;ExAC_OTH=0.2216;ExAC_SAS=0.2907;CLNALLELEID=252600;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0609;dpsi_zscore=-0.312;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2527;gnomAD_exome_AFR=0.6047;gnomAD_exome_AMR=0.2198;gnomAD_exome_ASJ=0.1533;gnomAD_exome_EAS=0.4583;gnomAD_exome_FIN=0.1999;gnomAD_exome_NFE=0.1934;gnomAD_exome_OTH=0.2253;gnomAD_exome_SAS=0.2868;gnomAD_genome_ALL=0.3326;gnomAD_genome_AFR=0.6094;gnomAD_genome_AMR=0.2368;gnomAD_genome_ASJ=0.1623;gnomAD_genome_EAS=0.4524;gnomAD_genome_FIN=0.1894;gnomAD_genome_NFE=0.2064;gnomAD_genome_OTH=0.2480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-409.627,0,-531.883:637:331:274:7609:9259 0/1:-426.938,0,-331.983:507:219:253:7379:6081 . 0/1:-412.622,0,-440.022:623:293:294:7915:7978 0/1:-522.069,0,-564.73:757:365:349:9709:9843 0/1:-378.596,0,-401.193:532:262:234:6680:7147 . . . . . 0/1:-413.399,0,-412.833:560:268:265:7163:7353 . . . . . . . 0/1:-343.803,0,-409.984:495:248:224:6436:6921 . . . 0/1:-457.443,0,-484.085:666:309:314:8364:8469 . . . . 0/1:-370.725,0,-448.495:526:276:228:6579:7584 0/1:-354.607,0,-398.324:531:246:255:6739:6880 1/1:-1381.49,-169.197,0:663:14:620:17369:340 . 0/1:-492.871,0,-530.003:720:347:340:9467:9611 0/1:-410.247,0,-372.551:490:240:232:7161:6508 . . . . . . . 0/1:-400.133,0,-480.367:592:295:267:7375:8088 . . . . . . . . 0/1:-389.389,0,-444.178:572:283:261:7153:7704 0/1:-406.479,0,-503.823:591:300:261:7152:8382 . . . . 1/1:-699.406,-83.8295,0:360:14:342:9344:402 0/1:-204.684,0,-422.864:431:250:151:4292:7004 . 1/1:-759.361,-88.4794,0:413:20:379:10431:484 1/1:-1537.98,-199.319,0:762:14:729:20063:328 0/1:-452.883,0,-388.605:569:252:292:8002:7217 . 0/1:-448.726,0,-502.907:656:311:300:8346:8657 . . . . . . 0/1:-519.914,0,-620.422:747:376:323:9207:10425 . . 0/1:-367.426,0,-337.027:482:220:237:6634:6010 0/1:-650.502,0,-613.153:847:399:403:11588:10973 . 0/1:-493.165,0,-472.223:653:303:321:8721:8330 . 0/1:-149.211,0,-370.812:343:209:118:3361:5699 . . 0/1:-522.879,0,-608.515:797:396:355:9599:10815 . . . . . . . 0/1:-506.428,0,-572.342:700:350:324:8957:10004 . 0/1:-593.106,0,-497.612:741:322:379:10341:8870 . . . . 0/1:-529.773,0,-552.025:548:277:260:8140:8349:277,260 . . . . . 0/1:-597.005,0,-520.182:568:263:295:9016:8046:263,295 . . . 0/1:-472.723,0,-443.165:460:229:227:7116:6898:229,227 0/1:-502.991,0,-521.49:505:249:246:7616:7805:249,246 . . . 0/1:-448.234,0,-583.032:537:287:239:7259:8795:287,239 . 1/1:-1213.82,-106.493,0:491:16:471:14528:474:16,471 . chr7 128491324 . C T 10944.70 . AB=0.451056;ABP=35.5324;AC=1;AF=0.5;AN=2;AO=705;CIGAR=1X;DP=1563;DPB=1563;DPRA=0;EPP=3.38299;EPPR=7.96104;GTI=0;LEN=1;MEANALT=3;MQM=34.5404;MQMR=34.508;NS=1;NUMALT=1;ODDS=2520.1;PAIRED=0.923404;PAIREDR=0.923551;PAO=0;PQA=0;PQR=0;PRO=0;QA=19604;QR=24394;RO=811;RPL=295;RPP=43.7447;RPPR=24.219;RPR=410;RUN=1;SAF=378;SAP=11.0216;SAR=327;SF=0;SRF=430;SRP=9.43904;SRR=381;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon33:c.C5479T:p.R1827C,FLNC:NM_001458:exon34:c.C5578T:p.R1860C;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0062;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0062;1000g2015aug_all=0.00219649;avsnp147=rs181067717;Kaviar_AF=0.0051487;Kaviar_AC=796;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0007;ExAC_AMR=0.0047;ExAC_EAS=0.0001;ExAC_FIN=0.0015;ExAC_NFE=0.0083;ExAC_OTH=0.0033;ExAC_SAS=0.0012;CLNALLELEID=194049;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.67;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.24;MutationAssessor_pred=L;FATHMM_score=0.92;FATHMM_pred=T;PROVEAN_score=-2.14;PROVEAN_pred=N;VEST3_score=0.604;CADD_raw=7.479;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.823;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.982;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.75;phyloP7way_vertebrate=-0.040;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.237;GDI_full_10282015=.;dpsi_max_tissue=0.0738;dpsi_zscore=0.396;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1618129#"Inflammatory_bowel_disease_association_with";gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0084;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0041;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0068;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1109.26,0,-1459.52:1563:811:705:19604:24394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128491497 . C T 9782.02 . AB=0.426802;ABP=44.3367;AC=4;AF=0.5;AN=8;AO=379;CIGAR=1X;DP=6277;DPB=888;DPRA=0;EPP=10.854;EPPR=12.9363;GTI=0;LEN=1;MEANALT=3;MQM=31.0686;MQMR=30.5214;NS=1;NUMALT=1;ODDS=1124.6;PAIRED=0.873351;PAIREDR=0.943567;PAO=0;PQA=0;PQR=0;PRO=0;QA=10130;QR=12930;RO=443;RPL=158;RPP=25.7506;RPPR=53.013;RPR=221;RUN=1;SAF=178;SAP=6.04119;SAR=201;SF=0,1;SRF=213;SRP=4.4269;SRR=230;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0256;esp6500siv2_ea=0.0352;esp6500siv2_all=0.0256;esp6500siv2_ea=0.0352;1000g2015aug_all=0.0147764;avsnp147=rs79790270;Kaviar_AF=0.0308534;Kaviar_AC=4770;Kaviar_AN=154602;ExAC_ALL=0.0316;ExAC_AFR=0.0056;ExAC_AMR=0.0093;ExAC_EAS=0.0002;ExAC_FIN=0.0702;ExAC_NFE=0.0396;ExAC_OTH=0.0245;ExAC_SAS=0.0316;CLNALLELEID=252601;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6078;dpsi_zscore=1.235;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0314;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.0099;gnomAD_exome_ASJ=0.0205;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0759;gnomAD_exome_NFE=0.0386;gnomAD_exome_OTH=0.0285;gnomAD_exome_SAS=0.0302;gnomAD_genome_ALL=0.0332;gnomAD_genome_AFR=0.0062;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0684;gnomAD_genome_NFE=0.0445;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-500.573,0,-681.877:888:443:379:10130:12930 . . . . . . . . . . . . . . . . 0/1:-937.137,0,-1504.41:1661:860:685:18355:25735 . . . . 0/1:-1140.82,0,-1681.65:1862:927:800:21369:28057 . . . . . . . . . . . . . . . . . . . . 0/1:-1652.63,0,-2014.42:1866:949:877:26257:29920:949,877 . . . . . . . . . . . . chr7 128491603 . T C 17246.65 . AB=0.487417;ABP=7.16342;AC=9;AF=0.5;AN=18;AO=1472;CIGAR=1X;DP=19958;DPB=3020;DPRA=0;EPP=309.754;EPPR=188.355;GTI=0;LEN=1;MEANALT=3;MQM=34.3376;MQMR=34.8395;NS=1;NUMALT=1;ODDS=5293.68;PAIRED=0.909647;PAIREDR=0.884373;PAO=0;PQA=0;PQR=0;PRO=0;QA=40415;QR=41223;RO=1427;RPL=672;RPP=27.1797;RPPR=59.6923;RPR=800;RUN=1;SAF=636;SAP=62.0177;SAR=836;SF=0,1;SRF=648;SRP=29.1243;SRR=779;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon34:c.T5664C:p.T1888T,FLNC:NM_001458:exon35:c.T5763C:p.T1921T;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1861;esp6500siv2_ea=0.0448;esp6500siv2_all=0.1861;esp6500siv2_ea=0.0448;1000g2015aug_all=0.288938;avsnp147=rs3816884;Kaviar_AF=0.126001;Kaviar_AC=19480;Kaviar_AN=154602;ExAC_ALL=0.1324;ExAC_AFR=0.4734;ExAC_AMR=0.1791;ExAC_EAS=0.3609;ExAC_FIN=0.0230;ExAC_NFE=0.0448;ExAC_OTH=0.0938;ExAC_SAS=0.1695;CLNALLELEID=134540;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3520;dpsi_zscore=0.962;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1235;gnomAD_exome_AFR=0.4741;gnomAD_exome_AMR=0.1633;gnomAD_exome_ASJ=0.0184;gnomAD_exome_EAS=0.3611;gnomAD_exome_FIN=0.0269;gnomAD_exome_NFE=0.0443;gnomAD_exome_OTH=0.0926;gnomAD_exome_SAS=0.1695;gnomAD_genome_ALL=0.1858;gnomAD_genome_AFR=0.4853;gnomAD_genome_AMR=0.1563;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.3465;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0431;gnomAD_genome_OTH=0.0845;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-2347.54,0,-2366.81:3020:1427:1472:40415:41223 . . . . . . . . . . . . . . . . . . 0/1:-1753.08,0,-2298.02:2611:1330:1166:32140:38438 . . . . . 0/1:-1306.42,0,-1378.95:1774:831:852:23410:23873 0/1:-1852.99,0,-1966.29:2401:1145:1153:32331:33137 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-805.23,0,-762.25:1179:539:561:15270:15162 . . 0/1:-956.607,0,-775.736:1286:565:655:17441:15650 . 0/1:-1841.04,0,-1734.79:2275:1028:1127:30976:29537 . 0/1:-1891.74,0,-2101.66:2570:1226:1245:34092:36003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-2583.64,0,-3030.95:2842:1479:1308:39753:45396:1479,1308 . . . . . . . . . . . . . . . . . . chr7 128492746 . C T 8034.27 . AB=0.453659;ABP=25.9538;AC=1;AF=0.5;AN=2;AO=558;CIGAR=1X;DP=1230;DPB=1230;DPRA=0;EPP=17.0198;EPPR=30.5792;GTI=0;LEN=1;MEANALT=3;MQM=31.4659;MQMR=33.9216;NS=1;NUMALT=1;ODDS=1849.96;PAIRED=0.883513;PAIREDR=0.915361;PAO=0;PQA=0;PQR=0;PRO=0;QA=15979;QR=19258;RO=638;RPL=331;RPP=45.1011;RPPR=3.02391;RPR=227;RUN=1;SAF=298;SAP=8.62967;SAR=260;SF=0;SRF=320;SRP=3.02391;SRR=318;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon35:c.C5845T:p.R1949C,FLNC:NM_001458:exon36:c.C5944T:p.R1982C;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs538779271;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=9.158e-05;ExAC_OTH=0;ExAC_SAS=0.0008;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.034;SIFT_pred=D;Polyphen2_HDIV_score=0.983;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.683;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=0.92;FATHMM_pred=T;PROVEAN_score=-3.88;PROVEAN_pred=D;VEST3_score=0.67;CADD_raw=7.613;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.845;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.865;MetaSVM_pred=T;MetaLR_score=0.173;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.97;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.716;SiPhy_29way_logOdds=16.054;GDI_full_10282015=.;dpsi_max_tissue=0.0482;dpsi_zscore=0.290;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.889e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=3.237e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.688e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-818.829,0,-1126.49:1230:638:558:15979:19258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128492825 . G A 5413.90 . AB=0.428571;ABP=35.8926;AC=2;AF=0.5;AN=4;AO=318;CIGAR=1X;DP=1955;DPB=742;DPRA=0;EPP=10.0027;EPPR=8.32019;GTI=0;LEN=1;MEANALT=3;MQM=31.1541;MQMR=29.8142;NS=1;NUMALT=1;ODDS=949.257;PAIRED=0.930818;PAIREDR=0.926209;PAO=0;PQA=0;PQR=0;PRO=0;QA=8862;QR=11969;RO=393;RPL=180;RPP=15.0558;RPPR=10.5745;RPR=138;RUN=1;SAF=97;SAP=108.006;SAR=221;SF=0,1;SRF=162;SRP=29.3166;SRR=231;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0131;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0131;esp6500siv2_ea=0.0172;1000g2015aug_all=0.00479233;avsnp147=rs12530507;Kaviar_AF=0.0127295;Kaviar_AC=1968;Kaviar_AN=154602;ExAC_ALL=0.0125;ExAC_AFR=0.0046;ExAC_AMR=0.0101;ExAC_EAS=0;ExAC_FIN=0.0129;ExAC_NFE=0.0185;ExAC_OTH=0.0090;ExAC_SAS=0.0014;CLNALLELEID=252604;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.3312;dpsi_zscore=-1.995;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0084;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0147;gnomAD_exome_NFE=0.0189;gnomAD_exome_OTH=0.0128;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0125;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0180;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-434.199,0,-620.06:742:393:318:8862:11969 . . . . . . . . . . . . . 0/1:-1175.79,0,-1267.58:1213:600:597:18108:19330:600,597 . . . . . . . . . . . . . chr7 128494510 . A G 8656.25 . AB=0.522901;ABP=7.78422;AC=1;AF=0.5;AN=2;AO=548;CIGAR=1X;DP=1048;DPB=1048;DPRA=0;EPP=4.92817;EPPR=10.6295;GTI=0;LEN=1;MEANALT=3;MQM=31.7792;MQMR=34.3596;NS=1;NUMALT=1;ODDS=1535.29;PAIRED=0.855839;PAIREDR=0.870614;PAO=0;PQA=0;PQR=0;PRO=0;QA=15693;QR=12631;RO=456;RPL=243;RPP=18.2423;RPPR=21.3154;RPR=305;RUN=1;SAF=320;SAP=36.5492;SAR=228;SF=0;SRF=267;SRP=31.9823;SRR=189;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon40:c.A6672G:p.P2224P,FLNC:NM_001458:exon41:c.A6771G:p.P2257P;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0008;1000g2015aug_all=0.00998403;avsnp147=rs34422412;Kaviar_AF=0.0025549;Kaviar_AC=395;Kaviar_AN=154602;ExAC_ALL=0.0033;ExAC_AFR=0.0332;ExAC_AMR=0.0032;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0033;ExAC_SAS=0.0005;CLNALLELEID=134541;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3612;dpsi_zscore=-0.936;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0272;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0032;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0081;gnomAD_genome_AFR=0.0282;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-880.537,0,-681.98:1048:456:548:15693:12631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128494727 . G A 5780.02 . AB=0.430255;ABP=46.0217;AC=1;AF=0.5;AN=2;AO=438;CIGAR=1X;DP=1018;DPB=1018;DPRA=0;EPP=65.1997;EPPR=5.77995;GTI=0;LEN=1;MEANALT=3;MQM=31.1347;MQMR=33.6717;NS=1;NUMALT=1;ODDS=1330.9;PAIRED=0.942922;PAIREDR=0.956604;PAO=0;PQA=0;PQR=0;PRO=0;QA=11837;QR=16321;RO=530;RPL=232;RPP=6.3617;RPPR=13.2531;RPR=206;RUN=1;SAF=221;SAP=3.08962;SAR=217;SF=0;SRF=272;SRP=3.81334;SRR=258;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon40:c.G6889A:p.G2297S,FLNC:NM_001458:exon41:c.G6988A:p.G2330S;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000798722;avsnp147=rs527248119;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0047;CLNALLELEID=456942;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.036;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.687;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.075;MutationAssessor_pred=M;FATHMM_score=-3.32;FATHMM_pred=D;PROVEAN_score=-3.64;PROVEAN_pred=D;VEST3_score=0.706;CADD_raw=5.307;CADD_phred=25.8;DANN_score=0.998;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=0.834;MetaSVM_pred=D;MetaLR_score=0.828;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.86;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.949;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.877;SiPhy_29way_logOdds=18.0;GDI_full_10282015=.;dpsi_max_tissue=-0.2036;dpsi_zscore=-0.694;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0044;gnomAD_genome_ALL=9.701e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.677e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-594.366,0,-967.046:1018:530:438:11837:16321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 128495338 . C T 3501.42 . AB=0.464135;ABP=10.954;AC=9;AF=0.5;AN=18;AO=330;CIGAR=1X;DP=5185;DPB=711;DPRA=0;EPP=35.2534;EPPR=22.05;GTI=0;LEN=1;MEANALT=3;MQM=28.5879;MQMR=31.2609;NS=1;NUMALT=1;ODDS=1003.81;PAIRED=0.812121;PAIREDR=0.828986;PAO=0;PQA=0;PQR=0;PRO=0;QA=9326;QR=10454;RO=345;RPL=164;RPP=3.03662;RPPR=15.7559;RPR=166;RUN=1;SAF=192;SAP=22.1982;SAR=138;SF=0,1;SRF=194;SRP=14.6481;SRR=151;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon42:c.C7122T:p.D2374D,FLNC:NM_001458:exon43:c.C7221T:p.D2407D;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1491;esp6500siv2_ea=0.0436;esp6500siv2_all=0.1491;esp6500siv2_ea=0.0436;1000g2015aug_all=0.258786;avsnp147=rs3816885;Kaviar_AF=0.117101;Kaviar_AC=18104;Kaviar_AN=154602;ExAC_ALL=0.1230;ExAC_AFR=0.3797;ExAC_AMR=0.1743;ExAC_EAS=0.3591;ExAC_FIN=0.0230;ExAC_NFE=0.0445;ExAC_OTH=0.0867;ExAC_SAS=0.1701;CLNALLELEID=134543;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9073;dpsi_zscore=-1.415;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1168;gnomAD_exome_AFR=0.3826;gnomAD_exome_AMR=0.1578;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.3608;gnomAD_exome_FIN=0.0269;gnomAD_exome_NFE=0.0439;gnomAD_exome_OTH=0.0879;gnomAD_exome_SAS=0.1699;gnomAD_genome_ALL=0.1589;gnomAD_genome_AFR=0.3936;gnomAD_genome_AMR=0.1444;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.3459;gnomAD_genome_FIN=0.0264;gnomAD_genome_NFE=0.0426;gnomAD_genome_OTH=0.0786;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-448.772,0,-564.976:711:345:330:9326:10454 . . . . . . . . . . . . . . . . . . 0/1:-383.086,0,-587.136:699:357:301:8280:10900 . . . . . 0/1:-336.771,0,-373.881:485:223:235:6689:6980 0/1:-374.079,0,-583.841:664:362:266:7550:10649 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-137.756,0,-221.671:283:147:122:3214:4499 . . 0/1:-155.535,0,-248.929:333:177:138:3705:5223 . 0/1:-331.831,0,-481.72:543:278:235:6695:8254 . 0/1:-458.584,0,-705.984:830:427:362:9913:13141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-526.559,0,-616.812:637:323:286:8669:9771:323,286 . . . . . . . . . . . . . . . . . . chr7 128496588 . T A 23745.90 . AB=0.482258;ABP=9.7909;AC=1;AF=0.5;AN=2;AO=1196;CIGAR=1X;DP=2480;DPB=2480;DPRA=0;EPP=212.895;EPPR=181.035;GTI=0;LEN=1;MEANALT=3;MQM=39.6973;MQMR=39.931;NS=1;NUMALT=1;ODDS=5208.09;PAIRED=0.942308;PAIREDR=0.941708;PAO=0;PQA=0;PQR=0;PRO=0;QA=36751;QR=35322;RO=1218;RPL=529;RPP=37.5868;RPPR=58.2349;RPR=667;RUN=1;SAF=639;SAP=15.2185;SAR=557;SF=1;SRF=650;SRP=14.998;SRR=568;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon43:c.T7169A:p.V2390E,FLNC:NM_001458:exon44:c.T7268A:p.V2423E;cytoBand=7q32.1;genomicSuperDups=Score\x3d0.961596\x3bName\x3dchr7:128552428;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.084;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.335;MutationAssessor_pred=M;FATHMM_score=-2.12;FATHMM_pred=D;PROVEAN_score=-4.29;PROVEAN_pred=D;VEST3_score=0.936;CADD_raw=5.868;CADD_phred=27.4;DANN_score=0.983;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_pred=D;MetaSVM_score=0.846;MetaSVM_pred=D;MetaLR_score=0.830;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.94;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.961;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.889;GDI_full_10282015=.;dpsi_max_tissue=0.2994;dpsi_zscore=0.890;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-2409.28,0,-2295.33:2480:1218:1196:36751:35322:1218,1196 . . . . . . . . . . . . . . chr7 136700385 . A G 6884.93 . AB=0.498003;ABP=3.03632;AC=2;AF=0.5;AN=4;AO=374;CIGAR=1X;DP=1511;DPB=751;DPRA=0;EPP=3.03352;EPPR=3.3985;GTI=0;LEN=1;MEANALT=3;MQM=38.0294;MQMR=37.2318;NS=1;NUMALT=1;ODDS=1500.6;PAIRED=0.973262;PAIREDR=0.924581;PAO=0;PQA=0;PQR=0;PRO=0;QA=10755;QR=10824;RO=358;RPL=180;RPP=4.14829;RPPR=22.0319;RPR=194;RUN=1;SAF=208;SAP=13.2522;SAR=166;SF=0,1;SRF=154;SRP=18.1742;SRR=204;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.A773G:p.N258S,CHRM2:NM_001006627:exon3:c.A773G:p.N258S,CHRM2:NM_001006628:exon3:c.A773G:p.N258S,CHRM2:NM_001006632:exon3:c.A773G:p.N258S,CHRM2:NM_000739:exon4:c.A773G:p.N258S,CHRM2:NM_001006630:exon4:c.A773G:p.N258S,CHRM2:NM_001006631:exon4:c.A773G:p.N258S,CHRM2:NM_001006626:exon5:c.A773G:p.N258S;cytoBand=7q33;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;1000g2015aug_all=0.000998403;avsnp147=rs142006633;Kaviar_AF=0.0014165;Kaviar_AC=219;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0002;ExAC_AMR=0.0018;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0020;ExAC_OTH=0.0033;ExAC_SAS=0.0008;CLNALLELEID=229556;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.957;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.623;LRT_pred=N;MutationTaster_score=0.929;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=0.11;FATHMM_pred=T;PROVEAN_score=-0.09;PROVEAN_pred=N;VEST3_score=0.031;CADD_raw=-1.074;CADD_phred=0.011;DANN_score=0.764;fathmm-MKL_coding_score=0.678;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.004;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.26;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=6.601;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0030;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-684.941,0,-662.893:751:358:374:10755:10824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-757.943,0,-805.244:760:382:365:11501:11896:382,365 . . . . . . . chr7 136700603 . A T 7705.60 . AB=0.490128;ABP=3.73917;AC=1;AF=0.5;AN=2;AO=422;CIGAR=1X;DP=861;DPB=861;DPRA=0;EPP=54.467;EPPR=15.8836;GTI=0;LEN=1;MEANALT=3;MQM=37.1185;MQMR=36.8074;NS=1;NUMALT=1;ODDS=1558.21;PAIRED=0.940758;PAIREDR=0.935802;PAO=0;PQA=0;PQR=0;PRO=0;QA=12446;QR=11439;RO=405;RPL=215;RPP=3.33962;RPPR=3.27302;RPR=207;RUN=1;SAF=236;SAP=15.8745;SAR=186;SF=0;SRF=221;SRP=10.3504;SRR=184;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.A991T:p.T331S,CHRM2:NM_001006627:exon3:c.A991T:p.T331S,CHRM2:NM_001006628:exon3:c.A991T:p.T331S,CHRM2:NM_001006632:exon3:c.A991T:p.T331S,CHRM2:NM_000739:exon4:c.A991T:p.T331S,CHRM2:NM_001006630:exon4:c.A991T:p.T331S,CHRM2:NM_001006631:exon4:c.A991T:p.T331S,CHRM2:NM_001006626:exon5:c.A991T:p.T331S;cytoBand=7q33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00579073;avsnp147=rs146328962;Kaviar_AF=0.0016623;Kaviar_AC=257;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0002;ExAC_AMR=8.697e-05;ExAC_EAS=0.0228;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=6.059e-05;CLNALLELEID=456986;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.813;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.130;LRT_pred=N;MutationTaster_score=0.866;MutationTaster_pred=N;MutationAssessor_score=-0.365;MutationAssessor_pred=N;FATHMM_score=0.13;FATHMM_pred=T;PROVEAN_score=0.82;PROVEAN_pred=N;VEST3_score=0.091;CADD_raw=-0.242;CADD_phred=0.894;DANN_score=0.867;fathmm-MKL_coding_score=0.687;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.032;MetaSVM_pred=T;MetaLR_score=0.034;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.21;phyloP7way_vertebrate=0.075;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=5.426;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0229;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.03e-06;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=6.504e-05;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0232;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR 0/1:-784.228,0,-685.91:861:405:422:12446:11439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150642438 . C T 36.55 . AB=0.625;ABP=4.09604;AC=1;AF=0.5;AN=2;AO=5;CIGAR=1X;DP=8;DPB=8;DPRA=0;EPP=13.8677;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=30;MQMR=23.3333;NS=1;NUMALT=1;ODDS=0.880171;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=176;QR=104;RO=3;RPL=0;RPP=13.8677;RPPR=3.73412;RPR=5;RUN=1;SAF=5;SAP=13.8677;SAR=0;SF=0;SRF=3;SRP=9.52472;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=KCNH2;GeneDetail.refGene=NM_000238:c.*15G>A,NM_172057:c.*15G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0117;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0117;esp6500siv2_ea=0.0001;1000g2015aug_all=0.0109824;avsnp147=rs41313746;Kaviar_AF=0.0027943;Kaviar_AC=432;Kaviar_AN=154602;ExAC_ALL=0.0059;ExAC_AFR=0.0596;ExAC_AMR=0.0036;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0034;ExAC_SAS=0.0001;CLNALLELEID=305379;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0400;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.644e-05;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=3.877e-05;gnomAD_genome_ALL=0.0113;gnomAD_genome_AFR=0.0397;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.684e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-10.2971,0,-4.03283:8:3:5:176:104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150644152 . G T 171.03 . AB=0.425;ABP=6.91895;AC=1;AF=0.5;AN=2;AO=34;CIGAR=1X;DP=80;DPB=80;DPRA=0;EPP=5.30951;EPPR=3.05855;GTI=0;LEN=1;MEANALT=2;MQM=26.1765;MQMR=29.3778;NS=1;NUMALT=1;ODDS=39.3813;PAIRED=0.705882;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=820;QR=1328;RO=45;RPL=33;RPP=68.4099;RPPR=69.0713;RPR=1;RUN=1;SAF=15;SAP=4.03217;SAR=19;SF=0;SRF=26;SRP=5.37479;SRR=19;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs781609392;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=6.286e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.955e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5511;dpsi_zscore=-1.142;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.435e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.127e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-31.2421,0,-72.2322:80:45:34:820:1328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150644404 . G T 250.33 . AB=0.361702;ABP=26.4345;AC=2;AF=0.5;AN=8;AO=51;CIGAR=1X;DP=423;DPB=141;DPRA=0;EPP=3.3935;EPPR=3.94093;GTI=0;LEN=1;MEANALT=3;MQM=20.9216;MQMR=24.5238;NS=1;NUMALT=1;ODDS=57.1018;PAIRED=0.745098;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=1239;QR=2485;RO=84;RPL=21;RPP=6.45911;RPPR=15.5221;RPR=30;RUN=1;SAF=30;SAP=6.45911;SAR=21;SF=0,1;SRF=56;SRP=23.2774;SRR=28;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0029;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0029;1000g2015aug_all=0.00159744;avsnp147=rs72549420;Kaviar_AF=0.0012872;Kaviar_AC=199;Kaviar_AN=154602;ExAC_ALL=0.0047;ExAC_AFR=0.0033;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0147;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=310194;CLNDN=Long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1126;dpsi_zscore=0.521;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0232;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0038;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-33.2986,0,-108.616:141:84:51:1239:2485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,-23.8573,-200.939:97:92:5:91:2642:92,5 . . . . . . . 0/0:0,-14.6363,-142.236:74:68:4:79:1953:68,4 . . . 0/1:-61.256,0,-135.339:111:72:37:1106:2015:72,37 . . . . . . . chr7 150644428 . C A 433.46 . AB=0.378151;ABP=18.3566;AC=3;AF=0.5;AN=6;AO=45;CIGAR=1X;DP=370;DPB=119;DPRA=0;EPP=13.8677;EPPR=3.13803;GTI=0;LEN=1;MEANALT=3;MQM=19.8;MQMR=24.9412;NS=1;NUMALT=1;ODDS=57.2354;PAIRED=0.711111;PAIREDR=0.794118;PAO=0;PQA=0;PQR=0;PRO=0;QA=1180;QR=2161;RO=68;RPL=21;RPP=3.44459;RPPR=3.13803;RPR=24;RUN=1;SAF=23;SAP=3.05855;SAR=22;SF=0,1;SRF=36;SRP=3.52123;SRR=32;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon9:c.G2120T:p.R707L,KCNH2:NM_000238:exon13:c.G3140T:p.R1047L;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0133;esp6500siv2_ea=0.0178;esp6500siv2_all=0.0133;esp6500siv2_ea=0.0178;1000g2015aug_all=0.00898562;avsnp147=rs36210421;Kaviar_AF=0.0071927;Kaviar_AC=1112;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0031;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0714;ExAC_NFE=0.0200;ExAC_OTH=0.0083;ExAC_SAS=0.0039;CLNALLELEID=45092;CLNDN=Torsades_de_pointes|Long_QT_syndrome|Cardiac_arrhythmia|Sudden_unexplained_death|Long_QT_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0005307,MedGen:C0040479,SNOMED_CT:31722008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0520806|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.065;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.045;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.567;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-2.23;FATHMM_pred=D;PROVEAN_score=-2.47;PROVEAN_pred=N;VEST3_score=0.76;CADD_raw=5.379;CADD_phred=25.9;DANN_score=0.997;fathmm-MKL_coding_score=0.400;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.629;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_pred=T;integrated_fitCons_score=0.652;integrated_confidence_value=0;GERP++_RS=4.09;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.866;phastCons7way_vertebrate=0.960;phastCons20way_mammalian=0.882;SiPhy_29way_logOdds=7.663;GDI_full_10282015=.;dpsi_max_tissue=-0.0144;dpsi_zscore=-0.068;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM045797#"Torsades_de_Pointes_drug-induced_association_with";gnomAD_exome_ALL=0.0162;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0042;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0734;gnomAD_exome_NFE=0.0228;gnomAD_exome_OTH=0.0129;gnomAD_exome_SAS=0.0031;gnomAD_genome_ALL=0.0264;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0642;gnomAD_genome_NFE=0.0351;gnomAD_genome_OTH=0.0400;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-32.9072,0,-97.5505:119:68:45:1180:2161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-78.6401,0,-135.014:179:96:81:2312:3142 . . . . . . 0/1:-63.2699,0,-63.6682:72:36:36:1021:1063:36,36 . . . . . . . . . . . . . . . . chr7 150644513 . T G 22.49 . AB=0.405797;ABP=8.32883;AC=1;AF=0.5;AN=2;AO=28;CIGAR=1X;DP=69;DPB=69;DPRA=0;EPP=55.4358;EPPR=49.8362;GTI=0;LEN=1;MEANALT=3;MQM=20.0357;MQMR=24.3333;NS=1;NUMALT=1;ODDS=5.17277;PAIRED=0.857143;PAIREDR=0.769231;PAO=0;PQA=0;PQR=0;PRO=0;QA=581;QR=928;RO=39;RPL=10;RPP=7.97367;RPPR=56.5176;RPR=18;RUN=1;SAF=9;SAP=10.7656;SAR=19;SF=0;SRF=34;SRP=49.8362;SRR=5;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon9:c.A2035C:p.T679P,KCNH2:NM_000238:exon13:c.A3055C:p.T1019P;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.139;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.098;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-4.7;FATHMM_pred=D;PROVEAN_score=-1.18;PROVEAN_pred=N;VEST3_score=0.553;CADD_raw=-0.372;CADD_phred=0.452;DANN_score=0.881;fathmm-MKL_coding_score=0.140;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.556;MetaSVM_pred=T;MetaLR_score=0.749;MetaLR_pred=D;integrated_fitCons_score=0.652;integrated_confidence_value=0;GERP++_RS=-8.5;phyloP7way_vertebrate=0.054;phyloP20way_mammalian=-0.859;phastCons7way_vertebrate=0.925;phastCons20way_mammalian=0.946;SiPhy_29way_logOdds=12.005;GDI_full_10282015=.;dpsi_max_tissue=-0.0791;dpsi_zscore=-0.382;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-15.5293,0,-39.0011:69:39:28:581:928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150644729 . C A 68.66 . AB=0.347826;ABP=16.8888;AC=1;AF=0.5;AN=2;AO=24;CIGAR=1X;DP=69;DPB=69;DPRA=0;EPP=3.0103;EPPR=4.78696;GTI=0;LEN=1;MEANALT=2;MQM=23.5;MQMR=25.0227;NS=1;NUMALT=1;ODDS=15.8087;PAIRED=1;PAIREDR=0.931818;PAO=0;PQA=0;PQR=0;PRO=0;QA=586;QR=1185;RO=44;RPL=8;RPP=8.80089;RPPR=6.16881;RPR=16;RUN=1;SAF=20;SAP=26.1727;SAR=4;SF=0;SRF=31;SRP=19.0002;SRR=13;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon8:c.G1910T:p.C637F,KCNH2:NM_000238:exon12:c.G2930T:p.C977F;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs767252448;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=5.417e-05;ExAC_AFR=0;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=395682;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.78;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=0.566;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-4.64;FATHMM_pred=D;PROVEAN_score=-0.54;PROVEAN_pred=N;VEST3_score=0.333;CADD_raw=-0.174;CADD_phred=1.239;DANN_score=0.792;fathmm-MKL_coding_score=0.146;fathmm-MKL_coding_pred=N;MetaSVM_score=0.263;MetaSVM_pred=D;MetaLR_score=0.779;MetaLR_pred=D;integrated_fitCons_score=0.658;integrated_confidence_value=0;GERP++_RS=1.04;phyloP7way_vertebrate=-0.081;phyloP20way_mammalian=0.772;phastCons7way_vertebrate=0.522;phastCons20way_mammalian=0.421;SiPhy_29way_logOdds=6.528;GDI_full_10282015=.;dpsi_max_tissue=1.1758;dpsi_zscore=1.621;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.187e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.001e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.723e-05;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=3.238e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-16.5077,0,-56.9995:69:44:24:586:1185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150645534 . T G 2576.64 . AB=0.458716;ABP=7.85129;AC=62;AF=0.5;AN=120;AO=150;CIGAR=1X;DP=20668;DPB=327;DPRA=0;EPP=3.06821;EPPR=21.945;GTI=0;LEN=1;MEANALT=3;MQM=31.4133;MQMR=29.9809;NS=1;NUMALT=1;ODDS=478.593;PAIRED=0.7;PAIREDR=0.656051;PAO=0;PQA=0;PQR=0;PRO=0;QA=4120;QR=4620;RO=157;RPL=34;RPP=100.35;RPPR=127.835;RPR=116;RUN=1;SAF=60;SAP=16.0391;SAR=90;SF=0,1;SRF=66;SRP=11.6547;SRR=91;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon7:c.A1670C:p.K557T,KCNH2:NM_000238:exon11:c.A2690C:p.K897T;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.1691;esp6500siv2_ea=0.2326;esp6500siv2_all=0.1691;esp6500siv2_ea=0.2326;1000g2015aug_all=0.136182;avsnp147=rs1805123;Kaviar_AF=0.181039;Kaviar_AC=27989;Kaviar_AN=154602;ExAC_ALL=0.1871;ExAC_AFR=0.0439;ExAC_AMR=0.1029;ExAC_EAS=0.0450;ExAC_FIN=0.1789;ExAC_NFE=0.2348;ExAC_OTH=0.2225;ExAC_SAS=0.2135;CLNALLELEID=78323;CLNDN=Long_QT_syndrome|Atrial_fibrillation|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0004238|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.253;SIFT_pred=T;Polyphen2_HDIV_score=0.952;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.305;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.205;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=-4.79;FATHMM_pred=D;PROVEAN_score=-1.47;PROVEAN_pred=N;VEST3_score=0.403;CADD_raw=2.039;CADD_phred=16.46;DANN_score=0.991;fathmm-MKL_coding_score=0.744;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.076;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.685;integrated_confidence_value=0;GERP++_RS=-0.036;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=0.107;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=7.206;GDI_full_10282015=.;dpsi_max_tissue=0.0753;dpsi_zscore=0.401;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM004877#"Atrial_fibrillation_association_with";gnomAD_exome_ALL=0.1819;gnomAD_exome_AFR=0.0357;gnomAD_exome_AMR=0.1136;gnomAD_exome_ASJ=0.2035;gnomAD_exome_EAS=0.0473;gnomAD_exome_FIN=0.1667;gnomAD_exome_NFE=0.2359;gnomAD_exome_OTH=0.1914;gnomAD_exome_SAS=0.2084;gnomAD_genome_ALL=0.1850;gnomAD_genome_AFR=0.0537;gnomAD_genome_AMR=0.1932;gnomAD_genome_ASJ=0.2428;gnomAD_genome_EAS=0.0437;gnomAD_genome_FIN=0.2616;gnomAD_genome_NFE=0.2577;gnomAD_genome_OTH=0.2150;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-225.609,0,-230.82:327:157:150:4120:4620 0/1:-255.212,0,-315.656:446:208:203:5182:5982 . 0/1:-124.478,0,-225.491:262:140:109:2763:4106 . 1/1:-819.592,-116.444,0:473:13:434:11792:253 0/1:-231.391,0,-222.138:315:137:156:4136:4131 . 0/1:-218.313,0,-309.132:384:188:175:4495:5455 0/1:-240.998,0,-340.286:425:209:195:5140:6012 0/1:-229.114,0,-269.104:367:179:166:4668:5197 . 0/1:-246.306,0,-314.887:417:205:189:4989:5827 . 0/1:-189.805,0,-220.353:302:145:139:3876:4192 . 0/1:-158.314,0,-248.946:292:153:128:3402:4493 . . 0/1:-190.913,0,-185.254:279:118:152:3911:3501 . . 0/1:-161.21,0,-188.078:243:111:120:3166:3389 . 0/1:-252.171,0,-327.3:426:199:194:5094:5885 0/1:-178.999,0,-243.812:314:157:136:3709:4659 . . 1/1:-481.802,-60.2166,0:294:11:268:7125:312 0/1:-207.674,0,-263.71:348:166:166:4606:4863 1/1:-626.106,-80.9343,0:353:13:314:8603:293 . . . 0/1:-288.433,0,-311.838:419:195:195:5397:5759 0/1:-283.604,0,-285.519:439:201:211:5470:5528 . . . 0/1:-215.305,0,-206.191:321:135:162:4287:3885 . 0/1:-232.932,0,-311.269:427:208:193:5111:5947 . . . . . . 0/1:-180.971,0,-260.919:306:155:137:3779:4636 . 0/1:-304.432,0,-443.912:516:257:227:5936:7475 1/1:-533.197,-74.6528,0:306:10:288:7813:187 . . 0/1:-142.95,0,-196.022:279:129:132:3334:3793 . 1/1:-735.421,-107.827,0:425:10:385:10254:194 0/1:-134.726,0,-147.443:255:117:128:3203:3350 . 0/1:-338.717,0,-359.578:499:231:234:6257:7002 1/1:-398.587,-59.973,0:241:5:221:5795:92 . 0/1:-269.349,0,-257.085:377:172:186:4966:4902 . . . 0/1:-158.985,0,-194.514:260:124:115:3134:3567 0/1:-209.757,0,-285.003:403:197:175:4639:5590 0/1:-258.029,0,-268.436:392:177:189:5304:5010 0/1:-273.217,0,-332.638:454:214:206:5440:6162 . 0/1:-300.778,0,-469.291:556:293:237:6390:8441 . 0/1:-104.371,0,-173.339:240:123:103:2685:3669 0/1:-211.695,0,-238.925:341:160:160:4370:4556 0/1:-235.863,0,-357.909:473:239:210:5571:6848 . . . . . . . . 0/1:-219.04,0,-256.011:379:184:172:4741:5095 . 0/1:-218.391,0,-218.167:318:141:162:4162:4135 . . . . . . . 1/1:-747.354,-103.129,0:432:10:396:10850:233 . . 0/1:-261.556,0,-281.327:303:139:145:4208:4314:139,145 0/0:0,-70.5489,-752.63:347:308:20:360:9290:308,20 0/1:-150.67,0,-166.968:195:90:92:2557:2708:90,92 0/1:-216.5,0,-277.495:269:137:126:3650:4195:137,126 0/1:-224.802,0,-319.906:323:161:145:3877:4996:161,145 0/1:-209.307,0,-275.177:285:138:125:3577:4343:138,125 0/0:0,-66.6605,-732.191:326:291:19:353:8978:291,19 0/1:-208.849,0,-278.516:264:136:114:3484:4122:136,114 . 0/1:-280.996,0,-354.697:356:178:160:4715:5459:178,160 0/0:0,-58.0939,-604.596:283:254:18:294:7721:254,18 0/0:0,-45.7726,-564.922:274:236:23:443:7349:236,23 0/1:-224.024,0,-287.411:287:137:133:3762:4401:137,133 0/1:-294.152,0,-353.605:362:178:172:4914:5499:178,172 0/1:-192.224,0,-294.913:277:145:120:3352:4474:145,120 1/1:-632.109,-66.3346,0:288:6:268:7836:190:6,268 0/0:0,-53.001,-567.341:253:226:14:249:6998:226,14 0/0:0,-62.4944,-697.395:321:286:24:412:8899:286,24 0/1:-237.242,0,-371.758:330:177:133:3917:5614:177,133 chr7 150646974 . T C 297.36 . AB=0.449275;ABP=4.55236;AC=1;AF=0.5;AN=2;AO=31;CIGAR=1X;DP=69;DPB=69;DPRA=0;EPP=3.08035;EPPR=16.2152;GTI=0;LEN=1;MEANALT=2;MQM=30.6129;MQMR=29.973;NS=1;NUMALT=1;ODDS=68.4687;PAIRED=0.967742;PAIREDR=0.972973;PAO=0;PQA=0;PQR=0;PRO=0;QA=864;QR=1125;RO=37;RPL=12;RPP=6.44263;RPPR=16.2152;RPR=19;RUN=1;SAF=27;SAP=40.0654;SAR=4;SF=0;SRF=37;SRP=83.3548;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=KCNH2;GeneDetail.refGene=NM_001204798:c.*13A>G,NM_172056:c.*13A>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0032;dpsi_zscore=0.024;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-39.7354,0,-60.0175:69:37:31:864:1125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150648198 . A G 7960.91 . AB=0;ABP=0;AC=143;AF=1;AN=198;AO=547;CIGAR=1X;DP=67074;DPB=570;DPRA=0;EPP=3.04603;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=28.989;MQMR=15.3333;NS=1;NUMALT=1;ODDS=747.168;PAIRED=0.943327;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14286;QR=64;RO=3;RPL=355;RPP=108.484;RPPR=3.73412;RPR=192;RUN=1;SAF=111;SAP=422.319;SAR=436;SF=0,1;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon4:c.T936C:p.Y312Y,KCNH2:NM_172057:exon4:c.T936C:p.Y312Y,KCNH2:NM_000238:exon8:c.T1956C:p.Y652Y,KCNH2:NM_172056:exon8:c.T1956C:p.Y652Y;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.6905;esp6500siv2_ea=0.5898;esp6500siv2_all=0.6905;esp6500siv2_ea=0.5898;1000g2015aug_all=0.772165;avsnp147=rs1137617;Kaviar_AF=0.652417;Kaviar_AC=100865;Kaviar_AN=154602;ExAC_ALL=0.6658;ExAC_AFR=0.8968;ExAC_AMR=0.6571;ExAC_EAS=0.9048;ExAC_FIN=0.6407;ExAC_NFE=0.5994;ExAC_OTH=0.7002;ExAC_SAS=0.6771;CLNALLELEID=197235;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0991;dpsi_zscore=-0.446;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6609;gnomAD_exome_AFR=0.9002;gnomAD_exome_AMR=0.6493;gnomAD_exome_ASJ=0.6066;gnomAD_exome_EAS=0.9081;gnomAD_exome_FIN=0.6331;gnomAD_exome_NFE=0.6023;gnomAD_exome_OTH=0.6415;gnomAD_exome_SAS=0.6672;gnomAD_genome_ALL=0.7031;gnomAD_genome_AFR=0.8883;gnomAD_genome_AMR=0.6766;gnomAD_genome_ASJ=0.61;gnomAD_genome_EAS=0.9021;gnomAD_genome_FIN=0.6263;gnomAD_genome_NFE=0.6004;gnomAD_genome_OTH=0.6222;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1038.88,-163.786,0:570:3:547:14286:64 1/1:-1286.78,-185.369,0:685:9:662:17950:267 0/1:-386.435,0,-451.435:594:291:269:7217:8230 0/1:-279.674,0,-273.061:430:190:216:5783:5343 0/1:-334.943,0,-530.352:655:333:290:7510:9879 1/1:-1796.46,-269.875,0:935:2:907:24828:50 1/1:-1074.88,-157.28,0:555:2:538:14783:59 . 0/1:-502.251,0,-481.118:685:313:346:9419:9005 1/1:-1468.47,-226.929,0:790:4:770:20753:70 0/1:-424.201,0,-380.509:644:268:336:8757:7886 . 0/1:-447.484,0,-510.992:702:332:327:8809:9373 1/1:-971.552,-160.85,0:560:1:540:14197:27 0/1:-402.125,0,-398.197:571:270:273:7517:7581 1/1:-1784.29,-264.92,0:953:9:914:24954:208 1/1:-854.009,-122.146,0:486:8:462:12410:240 . 0/1:-452.994,0,-407.795:607:276:303:8602:7709 0/1:-329.343,0,-334.501:507:248:238:6517:6982 . 0/1:-516.235,0,-436.59:726:317:367:9651:8665 0/1:-262.082,0,-223.753:371:165:188:5124:4596 0/1:-629.044,0,-636.781:872:408:419:11596:11850 0/1:-615.238,0,-667.792:920:434:454:11896:12614 0/1:-379.268,0,-338.821:590:261:296:7861:6946 1/1:-1472.54,-207.19,0:809:11:775:20298:365 1/1:-1169.26,-172.605,0:635:6:608:16262:163 1/1:-952.514,-142.102,0:534:7:512:13668:177 0/1:-356.836,0,-471.031:567:285:264:7069:8533 1/1:-1072.85,-161.998,0:563:3:547:14740:64 . 0/1:-523.627,0,-559.681:775:353:375:10297:10244 0/1:-546.888,0,-674.066:911:452:414:11067:12897 0/1:-379.783,0,-458.464:583:282:269:7484:8216 1/1:-1629.16,-230.247,0:876:14:831:22725:328 1/1:-1933.48,-290.335,0:1020:4:982:26718:96 1/1:-1030.88,-147.48,0:536:4:517:14095:107 0/1:-457.304,0,-586.788:819:391:381:9853:11201 1/1:-1066.96,-155.978,0:560:3:537:14583:86 . 0/1:-565.306,0,-456.365:767:326:394:10767:8968 1/1:-1416.81,-217.451,0:758:2:733:19622:50 0/1:-526.593,0,-529.781:751:352:348:9562:9813 1/1:-1508.53,-221.291,0:763:1:735:20240:36 . 0/1:-532.656,0,-648.06:841:425:378:10552:11963 1/1:-845.622,-126.498,0:441:2:431:11463:72 0/1:-342.493,0,-439.696:563:287:256:7156:8174 . 1/1:-1501.83,-230.7,0:797:3:775:20921:86 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T C 15075.99 . AB=0.461538;ABP=15.7051;AC=81;AF=0.5;AN=128;AO=456;CIGAR=1X;DP=85638;DPB=988;DPRA=0;EPP=12.2295;EPPR=3.02795;GTI=0;LEN=1;MEANALT=3;MQM=32.2171;MQMR=34.9675;NS=1;NUMALT=1;ODDS=1544.59;PAIRED=0.848684;PAIREDR=0.869919;PAO=0;PQA=0;PQR=0;PRO=0;QA=13404;QR=14499;RO=492;RPL=312;RPP=137.413;RPPR=205.134;RPR=144;RUN=1;SAF=158;SAP=96.3455;SAR=298;SF=0,1;SRF=192;SRP=54.4901;SRR=300;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon3:c.A672G:p.L224L,KCNH2:NM_172057:exon3:c.A672G:p.L224L,KCNH2:NM_000238:exon7:c.A1692G:p.L564L,KCNH2:NM_172056:exon7:c.A1692G:p.L564L;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.4894;esp6500siv2_ea=0.3601;esp6500siv2_all=0.4894;esp6500siv2_ea=0.3601;1000g2015aug_all=0.608427;avsnp147=rs1805121;Kaviar_AF=0.464567;Kaviar_AC=71823;Kaviar_AN=154602;ExAC_ALL=0.4786;ExAC_AFR=0.7556;ExAC_AMR=0.5483;ExAC_EAS=0.8677;ExAC_FIN=0.4766;ExAC_NFE=0.3756;ExAC_OTH=0.4779;ExAC_SAS=0.4679;CLNALLELEID=197263;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0054;dpsi_zscore=0.037;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4771;gnomAD_exome_AFR=0.7622;gnomAD_exome_AMR=0.5311;gnomAD_exome_ASJ=0.3982;gnomAD_exome_EAS=0.8694;gnomAD_exome_FIN=0.4768;gnomAD_exome_NFE=0.3725;gnomAD_exome_OTH=0.4551;gnomAD_exome_SAS=0.4651;gnomAD_genome_ALL=0.5247;gnomAD_genome_AFR=0.7417;gnomAD_genome_AMR=0.5263;gnomAD_genome_ASJ=0.3808;gnomAD_genome_EAS=0.8605;gnomAD_genome_FIN=0.4644;gnomAD_genome_NFE=0.3836;gnomAD_genome_OTH=0.4491;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-702.391,0,-844.873:988:492:456:13404:14499 0/1:-1147.57,0,-1067.47:1430:662:701:20129:19083 0/1:-917.264,0,-908.79:1147:546:559:16214:16120 . 0/1:-1099.31,0,-1000.6:1359:623:672:19485:18251 . . . . 0/1:-955.171,0,-1179.87:1356:688:616:17776:20213 . . . 1/1:-2220,-284.764,0:1089:19:1042:30572:557 . 1/1:-4085.44,-521.636,0:1873:16:1811:53290:388 0/1:-733.384,0,-839.405:997:488:481:13544:14534 . 0/1:-978.681,0,-1036.51:1214:594:575:17241:17549 . . 0/1:-1136.35,0,-1100.82:1421:660:710:20230:19377 . 0/1:-1397.94,0,-1195.54:1679:740:860:24452:21840 . . 1/1:-2816.31,-328.208,0:1356:33:1297:37600:869 1/1:-2205.31,-271.998,0:1040:20:1000:29311:460 . . . . 0/1:-1046.46,0,-1026.54:1358:645:655:19098:18835 0/1:-1031.24,0,-1296.9:1508:764:671:19353:22171 . 0/1:-1063.24,0,-1187.23:1413:690:658:19282:20431 1/1:-3785.11,-514.681,0:1825:11:1765:50794:259 1/1:-2121.77,-258.449,0:996:14:955:27745:408 0/1:-967.943,0,-1146.62:1331:659:618:17877:19351 0/1:-840.242,0,-831.922:1050:499:517:15018:14642 . . 1/1:-2828.36,-358.897,0:1326:15:1279:37439:388 0/1:-924.493,0,-992.845:1161:558:568:16415:16838 1/1:-3324.64,-435.365,0:1519:6:1479:43504:146 . 0/1:-924.158,0,-973.287:1227:585:585:16779:17176 1/1:-1626.47,-215.34,0:756:4:732:21486:107 . . 0/1:-1261.19,0,-1143.59:1475:665:755:22076:19754 . 0/1:-1180.39,0,-1136.8:1414:671:687:20244:19838 0/1:-1264.19,0,-1278.88:1635:772:802:23225:22540 . 0/1:-718.598,0,-793.603:944:458:450:13259:13676 . . 1/1:-2087.05,-258.562,0:997:15:956:28169:437 0/1:-1262.89,0,-1304.34:1641:783:793:22989:22756 . 1/1:-3455.14,-450.783,0:1646:17:1581:45873:432 0/1:-1004.68,0,-1151.48:1351:656:644:18602:19414 1/1:-1951.42,-244.738,0:972:16:922:26315:454 0/1:-1114.74,0,-1171.81:1487:714:704:20272:20459 . . 0/1:-809.663,0,-1039.68:1154:584:533:15515:17354 . 0/1:-1004.11,0,-1257.38:1432:744:634:18619:21719 . 0/1:-1201.83,0,-1511.82:1656:847:758:21939:25213 0/1:-1089.24,0,-1221.82:1455:709:688:20179:20661 . . 0/1:-1130.8,0,-1498.58:1710:887:755:22077:26066 0/1:-1186,0,-1188.47:1535:721:743:21286:20889 1/1:-3115.72,-389.168,0:1491:20:1423:41559:606 . . 0/1:-996.861,0,-1078.6:1327:638:619:17953:18631 0/1:-1037.11,0,-1402.79:1545:790:700:20228:23406 . 1/1:-2852.41,-363.263,0:1349:14:1297:37782:413 . 0/1:-1071,0,-1001.36:1299:596:646:19130:17631 0/1:-707.657,0,-726.86:874:418:426:12817:12347 0/1:-1058.04,0,-990.444:1308:606:645:18574:17747 0/1:-541.946,0,-633.454:767:372:364:10537:10921 0/1:-920.726,0,-907.084:1182:555:585:16793:16353 0/1:-1256.8,0,-1369.71:1684:821:797:23041:23761 . 0/1:-1165.78,0,-1241.66:1508:719:727:20985:21476 1/1:-2979.57,-353.451,0:1477:37:1402:40483:1033 . . 0/1:-1869.58,0,-1653.09:1706:810:882:28334:25808:810,882 . 0/1:-1282.22,0,-1513.29:1360:718:631:20489:22776:718,631 0/1:-901.713,0,-1037.29:937:475:451:14218:15477:475,451 . 0/1:-1621.2,0,-1540.28:1524:724:785:25074:23486:724,785 0/1:-1387.63,0,-1465.46:1400:695:693:21918:22223:695,693 0/1:-1421,0,-1615.29:1489:760:711:22564:24355:760,711 . . . 1/1:-2688.71,-298.435,0:1046:4:1026:32799:144:4,1026 0/1:-1254.33,0,-1284.6:1245:611:619:19605:19699:611,619 . 0/1:-1492.38,0,-1548.97:1466:728:717:23069:23372:728,717 . 0/1:-1538.12,0,-1480.99:1486:711:754:23721:22665:711,754 1/1:-3106.64,-322.821,0:1245:20:1210:38650:599:20,1210 . . chr7 150648846 . G A 7808.38 . AB=0.441648;ABP=41.7838;AC=1;AF=0.5;AN=2;AO=579;CIGAR=1X;DP=1311;DPB=1311;DPRA=0;EPP=157.56;EPPR=221.967;GTI=0;LEN=1;MEANALT=3;MQM=30.114;MQMR=32.6775;NS=1;NUMALT=1;ODDS=1797.95;PAIRED=0.825561;PAIREDR=0.807638;PAO=0;PQA=0;PQR=0;PRO=0;QA=17055;QR=22753;RO=707;RPL=358;RPP=73.4013;RPPR=49.4774;RPR=221;RUN=1;SAF=205;SAP=110.125;SAR=374;SF=0;SRF=256;SRP=119.8;SRR=451;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon3:c.C615T:p.Y205Y,KCNH2:NM_172057:exon3:c.C615T:p.Y205Y,KCNH2:NM_000238:exon7:c.C1635T:p.Y545Y,KCNH2:NM_172056:exon7:c.C1635T:p.Y545Y;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs200692436;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.7e-05;ExAC_EAS=0.0013;ExAC_FIN=0;ExAC_NFE=3.052e-05;ExAC_OTH=0.0012;ExAC_SAS=6.602e-05;CLNALLELEID=369342;CLNDN=Long_QT_syndrome|not_specified|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0024;dpsi_zscore=0.010;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0013;gnomAD_exome_FIN=4.531e-05;gnomAD_exome_NFE=5.411e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.264e-05;gnomAD_genome_ALL=6.464e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-825.401,0,-1303.19:1311:707:579:17055:22753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150649530 . CG CA 13069.50 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=573;CIGAR=1M1X;DP=599;DPB=600;DPRA=0;EPP=119.068;EPPR=3.25157;GTI=0;LEN=1;MEANALT=6;MQM=35.3979;MQMR=38.2222;NS=1;NUMALT=1;ODDS=724.865;PAIRED=0.928447;PAIREDR=1;PAO=2;PQA=63;PQR=0;PRO=0;QA=17356;QR=252;RO=9;RPL=153;RPP=273.171;RPPR=9.04217;RPR=420;RUN=1;SAF=403;SAP=208.747;SAR=170;SF=1;SRF=7;SRP=9.04217;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=KCNH2:NM_001204798:exon2:c.519delC:p.F173fs,KCNH2:NM_172057:exon2:c.519delC:p.F173fs,KCNH2:NM_000238:exon6:c.1539delC:p.F513fs,KCNH2:NM_172056:exon6:c.1539delC:p.F513fs;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1369.42,-153.988,0:599:9:573:17356:252:9,573 . . chr7 150649531 . G A 7599.19 . AB=0.44357;ABP=24.0867;AC=49;AF=0.5;AN=84;AO=338;CIGAR=1X;DP=41910;DPB=762;DPRA=0;EPP=59.777;EPPR=22.7659;GTI=0;LEN=1;MEANALT=3;MQM=29.1479;MQMR=32.5941;NS=1;NUMALT=1;ODDS=919.874;PAIRED=0.890533;PAIREDR=0.914425;PAO=0;PQA=0;PQR=0;PRO=0;QA=9664;QR=12714;RO=409;RPL=56;RPP=331.147;RPPR=234.922;RPR=282;RUN=1;SAF=238;SAP=125.358;SAR=100;SF=0,1;SRF=267;SRP=85.9669;SRR=142;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C519T:p.F173F,KCNH2:NM_172057:exon2:c.C519T:p.F173F,KCNH2:NM_000238:exon6:c.C1539T:p.F513F,KCNH2:NM_172056:exon6:c.C1539T:p.F513F;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2133;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2133;1000g2015aug_all=0.341653;avsnp147=rs1805120;Kaviar_AF=0.281769;Kaviar_AC=43562;Kaviar_AN=154602;ExAC_ALL=0.2935;ExAC_AFR=0.2463;ExAC_AMR=0.4305;ExAC_EAS=0.6622;ExAC_FIN=0.3166;ExAC_NFE=0.2218;ExAC_OTH=0.3214;ExAC_SAS=0.3139;CLNALLELEID=45091;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7882;dpsi_zscore=-1.828;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3005;gnomAD_exome_AFR=0.2462;gnomAD_exome_AMR=0.4063;gnomAD_exome_ASJ=0.3255;gnomAD_exome_EAS=0.6569;gnomAD_exome_FIN=0.3091;gnomAD_exome_NFE=0.2141;gnomAD_exome_OTH=0.2997;gnomAD_exome_SAS=0.3121;gnomAD_genome_ALL=0.2667;gnomAD_genome_AFR=0.2454;gnomAD_genome_AMR=0.3756;gnomAD_genome_ASJ=0.3113;gnomAD_genome_EAS=0.6539;gnomAD_genome_FIN=0.2964;gnomAD_genome_NFE=0.2223;gnomAD_genome_OTH=0.2838;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-461.896,0,-724.423:762:409:338:9664:12714 0/1:-772.406,0,-1111.88:1276:661:584:16259:20086 0/1:-565.569,0,-871.806:948:492:421:11669:15292 . . . . . . . . . . 1/1:-1208.41,-163.841,0:689:17:652:18300:521 . 1/1:-2476.76,-349.5,0:1355:19:1273:36116:531 0/1:-210.319,0,-706.517:685:423:246:6383:12894 . 0/1:-592.964,0,-827.629:939:481:431:12316:14901 . . . . . . . 0/1:-598.053,0,-908.04:1047:552:465:13024:16903 0/1:-521.559,0,-796.753:858:444:394:11094:14007 . . . . 0/1:-642.935,0,-852.621:1066:544:492:13822:16459 . . . 1/1:-2507.59,-344.456,0:1356:25:1287:36021:704 1/1:-1615.58,-241.299,0:868:6:821:22824:164 . 0/1:-384.789,0,-609.628:713:369:323:8785:11207 . . . . 1/1:-2265,-317.439,0:1230:20:1167:32736:518 . 0/1:-624.601,0,-832.168:1025:519:469:13012:15554 . . . 0/1:-655.575,0,-1117:1225:668:525:14732:20016 . 0/1:-789.002,0,-967.928:1159:581:552:15503:17792 . . 0/1:-489.775,0,-722.659:800:410:365:10250:12918 . . 0/1:-467.371,0,-618.194:767:396:354:9899:12279 . . 1/1:-2202.01,-298.864,0:1222:26:1153:32453:760 0/1:-619.933,0,-919.898:1020:532:465:12926:16073 0/1:-411.148,0,-420.799:603:278:307:8673:8459 0/1:-712.955,0,-1192.67:1262:672:554:15502:21124 . . 0/1:-471.851,0,-877.665:926:513:394:10872:15751 . 0/1:-601.026,0,-912.268:1023:542:448:12491:16744 . 0/1:-804.867,0,-1194.57:1353:703:616:17348:21806 . . . 0/1:-748.999,0,-1135.35:1285:668:577:16036:20781 0/1:-704.873,0,-998.141:1157:588:531:14953:17909 1/1:-1903.31,-264.867,0:1058:22:994:27521:585 . . 0/1:-605.083,0,-939.259:1089:590:474:13078:17962 0/1:-657.21,0,-955.467:1160:602:515:14339:17934 . 0/1:-557.251,0,-834.96:959:494:436:12223:15198 . 0/1:-640.802,0,-897.093:1005:529:455:12945:16125 0/1:-414.404,0,-637.251:684:369:303:8725:11173 . 0/1:-292.109,0,-547.337:558:305:242:6847:9547 0/1:-438.684,0,-865.129:861:489:351:9919:15062 0/1:-852.754,0,-1235.22:1381:715:633:17518:21800 . . 0/1:-589.277,0,-1152.32:1193:668:496:13664:20500 . . . . 0/1:-809.039,0,-1090.55:1011:544:449:13555:17138:544,449 . . 0/1:-707.842,0,-958.431:866:457:400:11979:14723:457,400 . . . . . 0/1:-627.461,0,-680.559:691:341:336:10256:10769:341,336 0/1:-649.847,0,-814.033:775:390:371:11027:12800:390,371 . . . . . . . chr7 150649542 . G A 7261.96 . AB=0.493732;ABP=3.36419;AC=1;AF=0.5;AN=2;AO=512;CIGAR=1X;DP=1037;DPB=1037;DPRA=0;EPP=4.70676;EPPR=12.2741;GTI=0;LEN=1;MEANALT=3;MQM=31.8457;MQMR=30.6552;NS=1;NUMALT=1;ODDS=1672.13;PAIRED=0.910156;PAIREDR=0.856855;PAO=0;PQA=0;PQR=0;PRO=0;QA=14135;QR=14928;RO=496;RPL=165;RPP=143.494;RPPR=151.231;RPR=347;RUN=1;SAF=331;SAP=98.4363;SAR=181;SF=0;SRF=325;SRP=106.838;SRR=171;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C508T:p.L170L,KCNH2:NM_172057:exon2:c.C508T:p.L170L,KCNH2:NM_000238:exon6:c.C1528T:p.L510L,KCNH2:NM_172056:exon6:c.C1528T:p.L510L;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0017;1000g2015aug_all=0.000599042;avsnp147=rs75648145;Kaviar_AF=0.0013842;Kaviar_AC=214;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=9.647e-05;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0015;ExAC_OTH=0.0022;ExAC_SAS=0.0047;CLNALLELEID=239999;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7511;dpsi_zscore=-1.309;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0039;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0050;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-758.375,0,-760.904:1037:496:512:14135:14928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150649603 . G A 9930.30 . AB=0.439189;ABP=36.2866;AC=53;AF=0.5;AN=88;AO=455;CIGAR=1X;DP=53026;DPB=1036;DPRA=0;EPP=92.5847;EPPR=79.1904;GTI=0;LEN=1;MEANALT=3;MQM=29.7802;MQMR=32.0748;NS=1;NUMALT=1;ODDS=1202.64;PAIRED=0.896703;PAIREDR=0.908411;PAO=0;PQA=0;PQR=0;PRO=0;QA=11911;QR=16038;RO=535;RPL=257;RPP=19.6233;RPPR=17.1391;RPR=198;RUN=1;SAF=246;SAP=9.54381;SAR=209;SF=0,1;SRF=288;SRP=9.83319;SRR=247;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C447T:p.I149I,KCNH2:NM_172057:exon2:c.C447T:p.I149I,KCNH2:NM_000238:exon6:c.C1467T:p.I489I,KCNH2:NM_172056:exon6:c.C1467T:p.I489I;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.2302;esp6500siv2_ea=0.2135;esp6500siv2_all=0.2302;esp6500siv2_ea=0.2135;1000g2015aug_all=0.342652;avsnp147=rs740952;Kaviar_AF=0.281238;Kaviar_AC=43480;Kaviar_AN=154602;ExAC_ALL=0.2929;ExAC_AFR=0.2578;ExAC_AMR=0.4322;ExAC_EAS=0.6589;ExAC_FIN=0.3017;ExAC_NFE=0.2213;ExAC_OTH=0.3194;ExAC_SAS=0.3105;CLNALLELEID=252648;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1957;dpsi_zscore=0.714;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3012;gnomAD_exome_AFR=0.2593;gnomAD_exome_AMR=0.4097;gnomAD_exome_ASJ=0.3264;gnomAD_exome_EAS=0.6520;gnomAD_exome_FIN=0.3024;gnomAD_exome_NFE=0.2152;gnomAD_exome_OTH=0.3026;gnomAD_exome_SAS=0.3099;gnomAD_genome_ALL=0.2687;gnomAD_genome_AFR=0.2551;gnomAD_genome_AMR=0.3786;gnomAD_genome_ASJ=0.3146;gnomAD_genome_EAS=0.6472;gnomAD_genome_FIN=0.2887;gnomAD_genome_NFE=0.2231;gnomAD_genome_OTH=0.2853;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-542.277,0,-885.299:1036:535:455:11911:16038 0/1:-819.3,0,-1205.55:1469:742:660:17289:22021 0/1:-662.533,0,-1013.36:1199:620:530:13932:18383 . . . . . . . . . . 1/1:-1457.24,-203.235,0:949:38:842:21176:894 . 1/1:-2992.9,-425.52,0:1771:41:1622:42743:953 0/1:-289.259,0,-784.661:811:484:301:7693:14409 . 0/1:-647.782,0,-928.448:1109:568:504:13328:16697 . . . . . . . 0/1:-610.204,0,-1062.91:1212:643:517:13363:19099 0/1:-601.982,0,-923.881:1052:545:464:12524:16026 . . . . 0/1:-799.576,0,-987.086:1305:633:623:16326:18516 . . . 1/1:-2866.08,-388.206,0:1691:54:1525:40098:1147 1/1:-1746.96,-257.902,0:1029:26:943:24730:479 0/1:-700.846,0,-845.849:1116:537:537:14051:15969 0/1:-437.726,0,-810.078:873:476:363:9551:14089 . . . . 1/1:-2490.04,-347.566,0:1489:43:1343:35280:879 . 0/1:-688.25,0,-994.216:1218:616:550:14685:18461 . . . 0/1:-770.408,0,-1284.32:1439:759:632:16988:22741 . 0/1:-908.287,0,-1057.21:1394:655:667:17874:19434 . . 0/1:-572.676,0,-765.762:924:454:444:11969:13352 . . 1/1:-1371.03,-186.075,0:842:33:747:19703:746 . . 1/1:-2364.68,-338.511,0:1463:46:1316:34471:977 0/1:-698.878,0,-993.597:1204:607:537:14237:17963 0/1:-530.723,0,-579.103:832:391:403:10832:11415 0/1:-712.861,0,-1240.55:1375:734:595:16074:21782 . . 0/1:-537.617,0,-959.206:1114:586:478:12443:17039 . 0/1:-674.331,0,-1005.77:1215:622:547:14005:18186 . 0/1:-871.684,0,-1350.18:1604:835:695:18471:24319 . . . 0/1:-864.203,0,-1219.75:1504:750:692:18002:22199 0/1:-794.881,0,-1106.04:1352:672:620:16448:19904 1/1:-2109.59,-297.163,0:1264:32:1139:29705:709 . . 0/1:-791.175,0,-1101.99:1389:706:612:16194:20720 0/1:-801.217,0,-1172.97:1415:717:652:16813:21384 . 0/1:-598.229,0,-989.988:1178:613:510:13293:18026 . 0/1:-715.675,0,-999.788:1201:597:561:14582:17782 0/1:-512.203,0,-754.112:890:449:410:10513:13309 . 0/1:-376.418,0,-612.352:686:361:297:7888:10695 0/1:-454.07,0,-1037.46:1030:578:414:10687:17290 0/1:-946.197,0,-1394.01:1640:839:736:19476:24850 . . 0/1:-688.208,0,-1293.15:1404:757:583:14970:22604 . . . . 0/1:-1170.21,0,-1317.82:1344:685:643:19412:21410:685,643 . . 0/1:-969.474,0,-1127.58:1141:575:544:16254:17861:575,544 . . . . . 0/1:-857.472,0,-898.455:948:476:463:14138:14636:476,463 0/1:-809.339,0,-1030.54:1000:518:468:13726:16304:518,468 . . . . 1/1:-2118.13,-234.773,0:905:12:881:26715:393:12,881 . . chr7 150654517 . A G 3268.91 . AB=0.501377;ABP=3.01628;AC=1;AF=0.5;AN=2;AO=182;CIGAR=1X;DP=363;DPB=363;DPRA=0;EPP=4.20342;EPPR=7.54152;GTI=0;LEN=1;MEANALT=3;MQM=36.2473;MQMR=39.5145;NS=1;NUMALT=1;ODDS=726.172;PAIRED=0.934066;PAIREDR=0.942197;PAO=0;PQA=0;PQR=0;PRO=0;QA=5667;QR=5177;RO=173;RPL=128;RPP=68.3454;RPPR=62.7697;RPR=54;RUN=1;SAF=46;SAP=99.6528;SAR=136;SF=1;SRF=62;SRP=33.1473;SRR=111;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_000238:exon5:c.T990C:p.I330I,KCNH2:NM_172056:exon5:c.T990C:p.I330I;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs748711437;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.669e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.033e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3373;dpsi_zscore=0.943;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.131e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.794e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-350.849,0,-332.045:363:173:182:5667:5177:173,182 . . . . . . . chr7 150655150 . T G 22.04 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=24;MQMR=0;NS=1;NUMALT=1;ODDS=5.06796;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=41;QR=0;RO=0;RPL=1;RPP=3.0103;RPPR=0;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=0;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_000238:exon4:c.A913C:p.T305P,KCNH2:NM_172056:exon4:c.A913C:p.T305P;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.042;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.775;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.556;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-4.72;FATHMM_pred=D;PROVEAN_score=-1.42;PROVEAN_pred=N;VEST3_score=0.648;CADD_raw=2.369;CADD_phred=18.62;DANN_score=0.990;fathmm-MKL_coding_score=0.777;fathmm-MKL_coding_pred=D;MetaSVM_score=0.675;MetaSVM_pred=D;MetaLR_score=0.846;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=3.18;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.986;phastCons7way_vertebrate=0.949;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=7.519;GDI_full_10282015=.;dpsi_max_tissue=-0.1045;dpsi_zscore=-0.463;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . 1/1:-3.40511,-0.60206,0:2:0:2:41:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150655288 . C T 59.92 . AB=0.428571;ABP=4.25114;AC=1;AF=0.5;AN=2;AO=12;CIGAR=1X;DP=28;DPB=28;DPRA=0;EPP=9.52472;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=29.5;MQMR=28;NS=1;NUMALT=1;ODDS=13.7966;PAIRED=0.583333;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=306;QR=326;RO=12;RPL=0;RPP=29.068;RPPR=29.068;RPR=12;RUN=1;SAF=9;SAP=9.52472;SAR=3;SF=0;SRF=6;SRP=3.0103;SRR=6;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_000238:exon4:c.G775A:p.D259N,KCNH2:NM_172056:exon4:c.G775A:p.D259N;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199472876;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=78423;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.977;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.636;Polyphen2_HVAR_pred=P;LRT_score=0.850;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-4.87;FATHMM_pred=D;PROVEAN_score=-1.39;PROVEAN_pred=N;VEST3_score=0.434;CADD_raw=3.091;CADD_phred=22.5;DANN_score=0.995;fathmm-MKL_coding_score=0.204;fathmm-MKL_coding_pred=N;MetaSVM_score=0.603;MetaSVM_pred=D;MetaLR_score=0.903;MetaLR_pred=D;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=3.56;phyloP7way_vertebrate=0.853;phyloP20way_mammalian=0.869;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.388;SiPhy_29way_logOdds=13.043;GDI_full_10282015=.;dpsi_max_tissue=-0.1408;dpsi_zscore=-0.559;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM097328#"Long_QT_syndrome";gnomAD_exome_ALL=2.825e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=3.277e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.695e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-14.9367,0,-15.3364:28:12:12:306:326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 150656741 . C A 4532.48 . AB=0.440678;ABP=28.2583;AC=1;AF=0.5;AN=2;AO=364;CIGAR=1X;DP=826;DPB=826;DPRA=0;EPP=14.5597;EPPR=102.349;GTI=0;LEN=1;MEANALT=3;MQM=33.1648;MQMR=33.8881;NS=1;NUMALT=1;ODDS=1043.64;PAIRED=0.903846;PAIREDR=0.899329;PAO=0;PQA=0;PQR=0;PRO=0;QA=9126;QR=12729;RO=447;RPL=182;RPP=3.0103;RPPR=10.3991;RPR=182;RUN=1;SAF=150;SAP=27.4453;SAR=214;SF=0;SRF=218;SRP=3.5981;SRR=229;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_000238:exon3:c.G391T:p.V131L,KCNH2:NM_172056:exon3:c.G391T:p.V131L;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs142590566;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.649e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.999e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.598;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.031;LRT_pred=N;MutationTaster_score=0.840;MutationTaster_pred=D;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=-5.12;FATHMM_pred=D;PROVEAN_score=-0.29;PROVEAN_pred=N;VEST3_score=0.347;CADD_raw=2.392;CADD_phred=18.77;DANN_score=0.961;fathmm-MKL_coding_score=0.875;fathmm-MKL_coding_pred=D;MetaSVM_score=0.707;MetaSVM_pred=D;MetaLR_score=0.834;MetaLR_pred=D;integrated_fitCons_score=0.610;integrated_confidence_value=0;GERP++_RS=4.71;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.927;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.226;GDI_full_10282015=.;dpsi_max_tissue=0.2878;dpsi_zscore=0.873;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.218e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.686e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.465e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-466.387,0,-751.7:826:447:364:9126:12729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 151254231 . C T 9395.99 . AB=0.461945;ABP=14.9098;AC=3;AF=0.5;AN=6;AO=437;CIGAR=1X;DP=3093;DPB=946;DPRA=0;EPP=19.1547;EPPR=34.8336;GTI=0;LEN=1;MEANALT=3;MQM=39.4485;MQMR=38.5598;NS=1;NUMALT=1;ODDS=1876.69;PAIRED=0.970252;PAIREDR=0.983773;PAO=0;PQA=0;PQR=0;PRO=0;QA=13293;QR=15138;RO=493;RPL=111;RPP=232.704;RPPR=188.114;RPR=326;RUN=1;SAF=228;SAP=4.80412;SAR=209;SF=0,1;SRF=265;SRP=9.04021;SRR=228;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_016203:c.*56G>A,NM_001040633:c.*56G>A,NM_001304531:c.*56G>A,NM_024429:c.*56G>A,NM_001304527:c.*56G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0057;esp6500siv2_ea=0.0082;esp6500siv2_all=0.0057;esp6500siv2_ea=0.0082;1000g2015aug_all=0.00519169;avsnp147=rs141781827;Kaviar_AF=0.0014036;Kaviar_AC=217;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0051;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0071;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-849.34,0,-987.962:946:493:437:13293:15138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-892.357,0,-922.5:946:458:470:14033:14161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1467.69,0,-1127.58:1201:530:659:21203:17208:530,659 . . . . . . . . . . . . . . . . . . chr7 151257695 . C T 9153.70 . AB=0.478564;ABP=7.01334;AC=3;AF=0.5;AN=6;AO=480;CIGAR=1X;DP=3230;DPB=1003;DPRA=0;EPP=26.4622;EPPR=32.8082;GTI=0;LEN=1;MEANALT=3;MQM=39.3167;MQMR=39.1755;NS=1;NUMALT=1;ODDS=1957.77;PAIRED=0.952083;PAIREDR=0.973469;PAO=0;PQA=0;PQR=0;PRO=0;QA=13559;QR=14432;RO=490;RPL=195;RPP=39.6539;RPPR=58.6;RPR=285;RUN=1;SAF=233;SAP=3.89698;SAR=247;SF=0;SRF=251;SRP=3.64845;SRR=239;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRKAG2:NM_024429:exon11:c.G870A:p.R290R,PRKAG2:NM_001304531:exon12:c.G870A:p.R290R,PRKAG2:NM_001304527:exon13:c.G1218A:p.R406R,PRKAG2:NM_001040633:exon15:c.G1461A:p.R487R,PRKAG2:NM_016203:exon15:c.G1593A:p.R531R;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0035;esp6500siv2_ea=0.005;esp6500siv2_all=0.0035;esp6500siv2_ea=0.005;1000g2015aug_all=0.00139776;avsnp147=rs148197254;Kaviar_AF=0.0032988;Kaviar_AC=510;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0009;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0050;ExAC_OTH=0.0033;ExAC_SAS=0.0004;CLNALLELEID=45357;CLNDN=Cardiomyopathy|Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4340;dpsi_zscore=1.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-864.294,0,-934.643:1003:490:480:13559:14432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1156.09,0,-1338.89:1344:669:623:18003:19964 . . . . . . . . . . . . 0/1:-767.862,0,-801.475:883:429:422:12139:12312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 151262385 . T C,G 2647.28 . AB=0.414791;ABP=22.6234;AC=8,0;AF=0.5;AN=18;AO=129;CIGAR=1X;DP=2295;DPB=311;DPRA=0;EPP=21.3416;EPPR=4.49475;GTI=0;LEN=1;MEANALT=2;MQM=40;MQMR=39.6158;NS=1;NUMALT=1;ODDS=538.844;PAIRED=1;PAIREDR=0.983051;PAO=0;PQA=0;PQR=0;PRO=0;QA=3998;QR=5436;RO=177;RPL=51;RPP=15.2816;RPPR=30.1108;RPR=78;RUN=1;SAF=98;SAP=78.5742;SAR=31;SF=0,1;SRF=123;SRP=61.4192;SRR=54;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0267;esp6500siv2_ea=0.0316;esp6500siv2_all=0.0267;esp6500siv2_ea=0.0316;1000g2015aug_all=0.0171725;avsnp147=rs73156279;Kaviar_AF=0.0240165;Kaviar_AC=3713;Kaviar_AN=154602;ExAC_ALL=0.0319;ExAC_AFR=0.0213;ExAC_AMR=0.0159;ExAC_EAS=0.0022;ExAC_FIN=0.0364;ExAC_NFE=0.0411;ExAC_OTH=0.0323;ExAC_SAS=0.0311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3207;dpsi_zscore=-0.883;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0278;gnomAD_exome_AFR=0.0183;gnomAD_exome_AMR=0.0170;gnomAD_exome_ASJ=0.0237;gnomAD_exome_EAS=0.0018;gnomAD_exome_FIN=0.0319;gnomAD_exome_NFE=0.0351;gnomAD_exome_OTH=0.0350;gnomAD_exome_SAS=0.0286;gnomAD_genome_ALL=0.0263;gnomAD_genome_AFR=0.0180;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0267;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0288;gnomAD_genome_NFE=0.0340;gnomAD_genome_OTH=0.0275;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0227;dpsi_zscore=0.153;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . 0/1:-253.394,0,-373.731,.,.,.:311:177:129,.:3998,.:5436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-357.531,0,-313.923,.,.,.:315:149:164,.:5184,.:4696 . . . 0/1:-294.034,0,-371.885,.,.,.:320:167:146,.:4519,.:5422 . . . . . 0/1:-294.496,0,-332.231,.,.,.:294:152:138,.:4414,.:4785 . . . . . . . . . . . . 0/1:-385.561,0,-569.649,.,.,.:469:264:192,.:5999,.:8139 . . . 0/1:-352.166,0,-381.691,.,.,.:358:177:178,.:5248,.:5718 . . . . . . . . . . 0/0:0,.,.,-11.9703,.,-146.867:55:51:.,3:.,47:1718:51,3 . . . . . 0/1:-102.849,0,-98.5267,.,.,.:94:45:47,.:1533,.:1448:45,47 . . . . . . . . . . 0/1:-47.778,0,-124.28,.,.,.:79:51:26,.:829,.:1677:51,26 . . chr7 151262528 . A C 2593.17 . AB=0.495268;ABP=3.07195;AC=2;AF=0.5;AN=4;AO=157;CIGAR=1X;DP=368;DPB=317;DPRA=0;EPP=18.0723;EPPR=3.90116;GTI=0;LEN=1;MEANALT=3;MQM=40.5414;MQMR=40.3269;NS=1;NUMALT=1;ODDS=596.826;PAIRED=0.987261;PAIREDR=0.974359;PAO=0;PQA=0;PQR=0;PRO=0;QA=4871;QR=4257;RO=156;RPL=102;RPP=33.5631;RPPR=43.6001;RPR=55;RUN=1;SAF=33;SAP=117.545;SAR=124;SF=0,1;SRF=55;SRP=32.4644;SRR=101;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00239617;avsnp147=rs530752815;Kaviar_AF=0.001191;Kaviar_AC=31;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3202;dpsi_zscore=0.920;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-327.005,0,-273.306:317:156:157:4871:4257 . . . . . . . . . . 0/1:-56.4895,0,-55.1339:51:26:24:818:794:26,24 . . . . . . . . . . . . . . . . chr7 151267353 . G A 5672.94 . AB=0.506591;ABP=3.21068;AC=20;AF=0.5;AN=38;AO=269;CIGAR=1X;DP=9443;DPB=531;DPRA=0;EPP=7.28059;EPPR=23.9489;GTI=0;LEN=1;MEANALT=3;MQM=39.1784;MQMR=39.992;NS=1;NUMALT=1;ODDS=1060.1;PAIRED=0.959108;PAIREDR=0.987952;PAO=0;PQA=0;PQR=0;PRO=0;QA=8087;QR=7573;RO=249;RPL=187;RPP=92.0084;RPPR=75.227;RPR=82;RUN=1;SAF=73;SAP=125.137;SAR=196;SF=0,1;SRF=63;SRP=134.947;SRR=186;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0831;esp6500siv2_ea=0.1105;esp6500siv2_all=0.0831;esp6500siv2_ea=0.1105;1000g2015aug_all=0.144169;avsnp147=rs2302531;Kaviar_AF=0.136803;Kaviar_AC=21150;Kaviar_AN=154602;ExAC_ALL=0.1430;ExAC_AFR=0.0303;ExAC_AMR=0.2378;ExAC_EAS=0.2625;ExAC_FIN=0.1060;ExAC_NFE=0.1175;ExAC_OTH=0.1619;ExAC_SAS=0.2004;CLNALLELEID=252649;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4791;dpsi_zscore=-1.071;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1480;gnomAD_exome_AFR=0.0282;gnomAD_exome_AMR=0.2365;gnomAD_exome_ASJ=0.1803;gnomAD_exome_EAS=0.2613;gnomAD_exome_FIN=0.1010;gnomAD_exome_NFE=0.1131;gnomAD_exome_OTH=0.1409;gnomAD_exome_SAS=0.2018;gnomAD_genome_ALL=0.1050;gnomAD_genome_AFR=0.0312;gnomAD_genome_AMR=0.2315;gnomAD_genome_ASJ=0.1921;gnomAD_genome_EAS=0.2624;gnomAD_genome_FIN=0.1069;gnomAD_genome_NFE=0.1201;gnomAD_genome_OTH=0.1324;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-530.229,0,-491.099:531:249:269:8087:7573 0/1:-656.267,0,-557.173:614:279:323:9859:8634 0/1:-482.086,0,-522.292:529:267:252:7536:7864 . 0/1:-559.893,0,-617.878:618:315:290:8695:9332 0/1:-602.322,0,-544.911:601:281:309:9102:8473 . . . . . . . . . . . . . . . 0/1:-636.419,0,-607.903:637:307:318:9720:9235 . . . . . 0/1:-713.767,0,-575.58:676:301:360:10689:8956 . . . . . . 1/1:-1830.78,-186.942,0:709:10:697:21437:290 0/1:-551.215,0,-538.883:551:266:270:8246:8161 . . . . . . . . 0/1:-608.787,0,-697.181:650:336:308:9377:10276 . . . . . . . . . 0/1:-486.105,0,-388.626:450:203:237:7260:6048 0/1:-781.182,0,-759.183:774:380:385:11879:11538 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-558.712,0,-458.511:536:247:274:8390:7104 . . . . . . 0/1:-752.76,0,-931.651:851:452:386:11705:13791 . . . . 0/1:-141.683,0,-158.587:141:73:64:2109:2345:73,64 0/1:-193.245,0,-137.616:159:70:88:2779:2179:70,88 . 0/1:-154.592,0,-94.3661:119:47:69:2232:1489:47,69 . . 0/1:-169.178,0,-154.819:156:73:80:2567:2311:73,80 . . 0/1:-170.88,0,-108.992:141:59:80:2518:1754:59,80 . . . . . . . . . chr7 151292395 . AAT ATAT 7522.44 . AB=0;ABP=0;AC=29;AF=1;AN=36;AO=491;CIGAR=1M1I2M;DP=8211;DPB=704.667;DPRA=0;EPP=34.9632;EPPR=13.8677;GTI=0;LEN=1;MEANALT=9;MQM=40.8391;MQMR=41.6;NS=1;NUMALT=1;ODDS=512.276;PAIRED=0.983707;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14004;QR=160;RO=5;RPL=205;RPP=32.0267;RPPR=6.91895;RPR=286;RUN=1;SAF=398;SAP=414.418;SAR=93;SF=1;SRF=4;SRP=6.91895;SRR=1;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.7069;esp6500siv2_ea=0.7284;esp6500siv2_all=0.7069;esp6500siv2_ea=0.7284;1000g2015aug_all=0.804712;avsnp147=rs35348247;Kaviar_AF=0.0997335;Kaviar_AC=15419;Kaviar_AN=154602;ExAC_ALL=0.7647;ExAC_AFR=0.6751;ExAC_AMR=0.7425;ExAC_EAS=0.9805;ExAC_FIN=0.7839;ExAC_NFE=0.7345;ExAC_OTH=0.7700;ExAC_SAS=0.8350;CLNALLELEID=252652;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7641;gnomAD_exome_AFR=0.6702;gnomAD_exome_AMR=0.7392;gnomAD_exome_ASJ=0.7332;gnomAD_exome_EAS=0.9833;gnomAD_exome_FIN=0.7863;gnomAD_exome_NFE=0.7300;gnomAD_exome_OTH=0.7554;gnomAD_exome_SAS=0.8325;gnomAD_genome_ALL=0.7296;gnomAD_genome_AFR=0.6618;gnomAD_genome_AMR=0.7416;gnomAD_genome_ASJ=0.7919;gnomAD_genome_EAS=0.9846;gnomAD_genome_FIN=0.7759;gnomAD_genome_NFE=0.7277;gnomAD_genome_OTH=0.7439;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1216.95,-135.165,0:538:5:491:14004:160:5,491 1/1:-1110.93,-119.57,0:488:7:443:12808:195:7,443 1/1:-1092.71,-106.757,0:488:12:439:12750:337:12,439 0/1:-277.977,0,-363.714:322:163:144:4186:5229:163,144 1/1:-977.327,-105.805,0:428:5:393:11279:158:5,393 0/1:-498.428,0,-570.048:539:258:257:7468:8332:258,257 0/1:-423.808,0,-410.708:431:193:219:6216:6175:193,219 1/1:-1128.76,-113.11,0:499:10:456:13144:306:10,456 1/1:-1096.55,-120.104,0:466:5:436:12604:143:5,436 1/1:-1002.62,-102.652,0:456:8:404:11669:241:8,404 1/1:-1133.42,-107.943,0:517:15:461:13290:404:15,461 1/1:-903.449,-97.5082,0:400:6:367:10440:166:6,367 0/1:-404.393,0,-437.465:423:199:211:5997:6474:199,211 0/1:-353.796,0,-475.516:414:209:187:5380:6803:209,187 1/1:-1026.68,-108.805,0:455:7:416:11966:218:7,416 0/1:-416.736,0,-487.274:465:225:219:6261:7148:225,219 0/1:-412.5,0,-549.939:492:248:225:6323:7920:248,225 . . 1/1:-843.348,-99.6952,0:390:2:350:9689:72:2,350 chr7 151329206 . G A 510.44 . AB=0.409091;ABP=12.4858;AC=1;AF=0.5;AN=2;AO=54;CIGAR=1X;DP=132;DPB=132;DPRA=0;EPP=4.45795;EPPR=5.11597;GTI=0;LEN=1;MEANALT=3;MQM=28.6481;MQMR=34;NS=1;NUMALT=1;ODDS=117.534;PAIRED=0.62963;PAIREDR=0.787879;PAO=0;PQA=0;PQR=0;PRO=0;QA=1328;QR=1783;RO=66;RPL=40;RPP=30.1939;RPPR=25.2514;RPR=14;RUN=1;SAF=28;SAP=3.17115;SAR=26;SF=0;SRF=35;SRP=3.53672;SRR=31;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRKAG2:NM_001304527:exon3:c.C331T:p.L111L,PRKAG2:NM_001040633:exon5:c.C571T:p.L191L,PRKAG2:NM_016203:exon5:c.C703T:p.L235L;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=522805;CLNDN=Glycogen_storage_disease_of_heart,_lethal_congenital;CLNDISDB=MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8977;dpsi_zscore=1.457;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.085e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.288e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-60.2767,0,-102.331:132:66:54:1328:1783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 151372719 . G A 2695.45 . AB=0.431095;ABP=26.3517;AC=1;AF=0.5;AN=2;AO=244;CIGAR=1X;DP=566;DPB=566;DPRA=0;EPP=4.7546;EPPR=3.36856;GTI=0;LEN=1;MEANALT=3;MQM=29.6107;MQMR=30.2256;NS=1;NUMALT=1;ODDS=620.65;PAIRED=0.807377;PAIREDR=0.835017;PAO=0;PQA=0;PQR=0;PRO=0;QA=6655;QR=8853;RO=297;RPL=210;RPP=278.681;RPPR=316.295;RPR=34;RUN=1;SAF=93;SAP=32.9481;SAR=151;SF=0;SRF=112;SRP=41.9725;SRR=185;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRKAG2:NM_001304527:exon2:c.C99T:p.S33S,PRKAG2:NM_001040633:exon4:c.C339T:p.S113S,PRKAG2:NM_016203:exon4:c.C471T:p.S157S;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs141804012;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0.0004;CLNALLELEID=54886;CLNDN=Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9823;dpsi_zscore=-1.461;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-311.703,0,-469.275:566:297:244:6655:8853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 151478445 . T G 61.04 . AB=0.407895;ABP=8.61041;AC=1;AF=0.5;AN=2;AO=31;CIGAR=1X;DP=76;DPB=76;DPRA=0;EPP=23.254;EPPR=3.0608;GTI=0;LEN=1;MEANALT=2;MQM=23.2581;MQMR=23.4186;NS=1;NUMALT=1;ODDS=14.0544;PAIRED=0.967742;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=551;QR=912;RO=43;RPL=12;RPP=6.44263;RPPR=14.3727;RPR=19;RUN=1;SAF=5;SAP=33.9012;SAR=26;SF=0;SRF=9;SRP=34.5724;SRR=34;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRKAG2:NM_001040633:exon3:c.A127C:p.S43R,PRKAG2:NM_016203:exon3:c.A259C:p.S87R;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.962;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-2.03;FATHMM_pred=D;PROVEAN_score=-0.58;PROVEAN_pred=N;VEST3_score=0.365;CADD_raw=4.607;CADD_phred=24.4;DANN_score=0.998;fathmm-MKL_coding_score=0.917;fathmm-MKL_coding_pred=D;MetaSVM_score=0.521;MetaSVM_pred=D;MetaLR_score=0.701;MetaLR_pred=D;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=4.81;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.945;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=13.573;GDI_full_10282015=.;dpsi_max_tissue=-0.1417;dpsi_zscore=-0.562;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-17.0537,0,-37.0706:76:43:31:551:912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 151478457 . G A 292.58 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=37;CIGAR=1X;DP=74;DPB=74;DPRA=0;EPP=4.47751;EPPR=7.09778;GTI=0;LEN=1;MEANALT=2;MQM=24.7297;MQMR=21.2353;NS=1;NUMALT=1;ODDS=48.6786;PAIRED=0.972973;PAIREDR=0.941176;PAO=0;PQA=0;PQR=0;PRO=0;QA=1031;QR=965;RO=34;RPL=24;RPP=10.1116;RPPR=3.0103;RPR=13;RUN=1;SAF=3;SAP=59.4099;SAR=34;SF=0;SRF=6;SRP=33.9218;SRR=28;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRKAG2:NM_001040633:exon3:c.C115T:p.P39S,PRKAG2:NM_016203:exon3:c.C247T:p.P83S;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000199681;avsnp147=rs148791216;Kaviar_AF=0.0003881;Kaviar_AC=60;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0014;CLNALLELEID=54876;CLNDN=Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.701;SIFT_pred=T;Polyphen2_HDIV_score=0.082;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_pred=B;LRT_score=0.774;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-1.74;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_pred=N;VEST3_score=0.173;CADD_raw=-0.304;CADD_phred=0.651;DANN_score=0.887;fathmm-MKL_coding_score=0.835;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.797;MetaSVM_pred=T;MetaLR_score=0.373;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=1.62;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.009;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.984;SiPhy_29way_logOdds=7.727;GDI_full_10282015=.;dpsi_max_tissue=0.1393;dpsi_zscore=0.591;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=5.993e-05;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-42.173,0,-30.434:74:34:37:1031:965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr7 151483619 . G A 10969.80 . AB=0.481387;ABP=6.56696;AC=1;AF=0.5;AN=2;AO=569;CIGAR=1X;DP=1182;DPB=1182;DPRA=0;EPP=31.8958;EPPR=3.72923;GTI=0;LEN=1;MEANALT=3;MQM=39.5993;MQMR=39.7483;NS=1;NUMALT=1;ODDS=2525.9;PAIRED=0.934974;PAIREDR=0.964527;PAO=0;PQA=0;PQR=0;PRO=0;QA=17241;QR=19151;RO=592;RPL=371;RPP=117.228;RPPR=65;RPR=198;RUN=1;SAF=210;SAP=87.7359;SAR=359;SF=1;SRF=198;SRP=143.921;SRR=394;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=PRKAG2:NM_016203:exon2:c.C123T:p.S41S\x3bPRKAG2:NM_016203:exon2:c.C123T:p.S41S;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517263;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=54857;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1843;dpsi_zscore=-0.655;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.083e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV\x3bsynonymous_SNV;AAChange.refGene=PRKAG2:NM_016203:exon2:c.C123T:p.S41S\x3bPRKAG2:NM_016203:exon2:c.C123T:p.S41S;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517263;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=54857;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1843;dpsi_zscore=-0.655;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.083e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1128.17,0,-1279.66:1182:592:569:17241:19151:592,569 . . . . . . . . . . . . . . . . chr7 151573580 . G A 5661.31 . AB=0.414433;ABP=64.698;AC=19;AF=0.5;AN=36;AO=402;CIGAR=1X;DP=16402;DPB=970;DPRA=0;EPP=3.03191;EPPR=75.3688;GTI=0;LEN=1;MEANALT=3;MQM=31.5373;MQMR=31.3961;NS=1;NUMALT=1;ODDS=968.209;PAIRED=0.940299;PAIREDR=0.918447;PAO=0;PQA=0;PQR=0;PRO=0;QA=9726;QR=14764;RO=515;RPL=89;RPP=274.045;RPPR=56.8502;RPR=313;RUN=1;SAF=277;SAP=127.811;SAR=125;SF=0,1;SRF=355;SRP=163.341;SRR=160;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0551;esp6500siv2_ea=0.0769;esp6500siv2_all=0.0551;esp6500siv2_ea=0.0769;1000g2015aug_all=0.0277556;avsnp147=rs77902041;Kaviar_AF=0.0508338;Kaviar_AC=7859;Kaviar_AN=154602;ExAC_ALL=0.0501;ExAC_AFR=0.0096;ExAC_AMR=0.0302;ExAC_EAS=0;ExAC_FIN=0.0523;ExAC_NFE=0.0710;ExAC_OTH=0.0413;ExAC_SAS=0.0313;CLNALLELEID=54854;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0510;gnomAD_exome_AFR=0.0105;gnomAD_exome_AMR=0.0330;gnomAD_exome_ASJ=0.0647;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0539;gnomAD_exome_NFE=0.0731;gnomAD_exome_OTH=0.0580;gnomAD_exome_SAS=0.0326;gnomAD_genome_ALL=0.0540;gnomAD_genome_AFR=0.0157;gnomAD_genome_AMR=0.0334;gnomAD_genome_ASJ=0.0567;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0577;gnomAD_genome_NFE=0.0817;gnomAD_genome_OTH=0.0595;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-471.998,0,-813.94:970:515:402:9726:14764 . 0/1:-487.782,0,-828.07:942:501:380:9584:14396 . . 1/1:-1865.91,-232.906,0:1222:74:1035:25767:1382 0/1:-450.704,0,-636.312:796:402:350:8726:11368 . . . . 0/1:-521.343,0,-882.761:1058:544:438:10572:15426 . . 0/1:-407.3,0,-565.709:734:371:319:8004:10280 . . . . 0/1:-333.734,0,-692.696:754:422:298:7296:11723 . . . . . . . . . . 0/1:-442.907,0,-603.405:767:373:346:8860:11081 . . 0/1:-337.334,0,-702.598:773:434:285:7263:12091 . . . . . . . . . . . . . . . . . . . . 0/1:-340.146,0,-560.966:717:374:295:7375:10501 . . . . . 0/1:-332.256,0,-472.053:634:327:261:6544:8835 . 0/1:-429.312,0,-668.208:773:409:322:8275:12043 . . . . . . . 0/1:-447.347,0,-769.786:863:466:355:9042:13470 0/1:-662.276,0,-1151.34:1268:675:512:12913:19330 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-960.156,0,-1171.01:1072:558:496:14777:17451:558,496 . . . . . . 0/1:-900.626,0,-984.493:935:475:448:13635:14782:475,448 . . . . . . . . 0/1:-917.68,0,-976.941:957:462:477:14036:14767:462,477 . 0/1:-1102.55,0,-1240.67:1167:598:556:16775:18604:598,556 chr7 151573731 . G A 5058.63 . AB=0.424427;ABP=35.5028;AC=22;AF=0.5;AN=44;AO=278;CIGAR=1X;DP=16747;DPB=655;DPRA=0;EPP=24.1314;EPPR=17.78;GTI=0;LEN=1;MEANALT=3;MQM=33.1691;MQMR=32.3088;NS=1;NUMALT=1;ODDS=853.474;PAIRED=0.967626;PAIREDR=0.912181;PAO=0;PQA=0;PQR=0;PRO=0;QA=7527;QR=10521;RO=353;RPL=139;RPP=3.0103;RPPR=3.01645;RPR=139;RUN=1;SAF=62;SAP=188.257;SAR=216;SF=0,1;SRF=111;SRP=108.576;SRR=242;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_016203:c.-26C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.1293;esp6500siv2_ea=0.1259;esp6500siv2_all=0.1293;esp6500siv2_ea=0.1259;1000g2015aug_all=0.188898;avsnp147=rs66628686;Kaviar_AF=0.162378;Kaviar_AC=25104;Kaviar_AN=154602;ExAC_ALL=0.1743;ExAC_AFR=0.1416;ExAC_AMR=0.3314;ExAC_EAS=0.2596;ExAC_FIN=0.1825;ExAC_NFE=0.1276;ExAC_OTH=0.1632;ExAC_SAS=0.2233;CLNALLELEID=252655;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CR054266#"Glucose/Lipid_metabolism__association_with";gnomAD_exome_ALL=0.1756;gnomAD_exome_AFR=0.1419;gnomAD_exome_AMR=0.3086;gnomAD_exome_ASJ=0.1321;gnomAD_exome_EAS=0.2494;gnomAD_exome_FIN=0.1668;gnomAD_exome_NFE=0.1237;gnomAD_exome_OTH=0.1574;gnomAD_exome_SAS=0.2151;gnomAD_genome_ALL=0.1452;gnomAD_genome_AFR=0.1351;gnomAD_genome_AMR=0.2679;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.2374;gnomAD_genome_FIN=0.1603;gnomAD_genome_NFE=0.1309;gnomAD_genome_OTH=0.1497;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-401.706,0,-595.12:655:353:278:7527:10521 . . . . . . . 0/1:-435.535,0,-692.721:735:397:318:8464:11965 . . . 0/1:-475.385,0,-574.503:720:349:348:9160:10422 . . . . 0/1:-510.297,0,-788.489:877:466:382:10171:13994 0/1:-480.839,0,-785.874:840:454:359:9592:13709 . . . 0/1:-392.657,0,-414.199:582:266:289:7566:7940 . . 0/1:-630.429,0,-751.615:913:451:433:11942:13483 . . . . . . . . 0/1:-617.114,0,-702.133:899:431:441:11669:13001 . 0/1:-533.888,0,-697.112:767:393:350:9692:11977 . . . 0/1:-492.96,0,-643.267:764:385:345:9370:11337 . . . . . . . 0/1:-303.446,0,-461.894:539:306:220:6369:8924 . . . . . . . . . . . . . 0/1:-313.759,0,-473.905:523:288:217:5936:8380 . . . . . . . . . . . . . 0/1:-519.383,0,-726.314:846:441:363:9872:13149 . 0/1:-319.923,0,-506.56:578:303:253:6730:9197 0/1:-450.168,0,-535.823:686:338:318:8655:9787 0/1:-466.88,0,-585.214:704:356:332:8811:10321 0/1:-476.051,0,-618.39:724:374:321:8706:10995 . . . . . . . . . . 0/1:-1037.25,0,-984.566:960:462:488:15453:14713:462,488 . 0/1:-735.79,0,-698.218:700:341:346:10968:10784:341,346 . . . . . . 0/1:-719.36,0,-666.714:687:329:344:10808:10412:329,344 . . 0/1:-1051.97,0,-1128.81:1046:523:512:15953:16820:523,512 . 0/1:-962.802,0,-1137.03:1002:531:461:14708:16951:531,461 . . . chr8 11566020 . T G 30.90 . AB=0.615385;ABP=4.51363;AC=2;AF=0.5;AN=4;AO=8;CIGAR=1X;DP=18;DPB=13;DPRA=0;EPP=3.0103;EPPR=6.91895;GTI=0;LEN=1;MEANALT=1;MQM=32;MQMR=40.4;NS=1;NUMALT=1;ODDS=4.60878;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=161;QR=132;RO=5;RPL=4;RPP=3.0103;RPPR=6.91895;RPR=4;RUN=1;SAF=0;SAP=20.3821;SAR=8;SF=0;SRF=0;SRP=13.8677;SRR=5;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon1:c.T199G:p.S67A,GATA4:NM_002052:exon2:c.T199G:p.S67A;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.397;SIFT_pred=T;Polyphen2_HDIV_score=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.061;Polyphen2_HVAR_pred=B;LRT_score=0.304;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.245;MutationAssessor_pred=N;FATHMM_score=-4.17;FATHMM_pred=D;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.277;CADD_raw=-1.537;CADD_phred=0.002;DANN_score=0.224;fathmm-MKL_coding_score=0.391;fathmm-MKL_coding_pred=N;MetaSVM_score=0.100;MetaSVM_pred=D;MetaLR_score=0.752;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=2.18;phyloP7way_vertebrate=-0.349;phyloP20way_mammalian=-0.401;phastCons7way_vertebrate=0.034;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=5.889;GDI_full_10282015=.;dpsi_max_tissue=0.0166;dpsi_zscore=0.113;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . 0/1:-9.94391,0,-7.92289:13:5:8:161:132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-2.36909,0,-1.30466:5:3:2:41:64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr8 11566237 . C A 59.12 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=4;CIGAR=1X;DP=8;DPB=8;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=22.5;NS=1;NUMALT=1;ODDS=0.0165819;PAIRED=1;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=140;QR=140;RO=4;RPL=0;RPP=11.6962;RPPR=11.6962;RPR=4;RUN=1;SAF=2;SAP=3.0103;SAR=2;SF=0;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon1:c.C416A:p.A139E,GATA4:NM_002052:exon2:c.C416A:p.A139E;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.343;SIFT_pred=T;Polyphen2_HDIV_score=0.863;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.549;Polyphen2_HVAR_pred=P;LRT_score=0.749;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-4.92;FATHMM_pred=D;PROVEAN_score=-0.3;PROVEAN_pred=N;VEST3_score=0.412;CADD_raw=1.025;CADD_phred=10.80;DANN_score=0.736;fathmm-MKL_coding_score=0.329;fathmm-MKL_coding_pred=N;MetaSVM_score=0.529;MetaSVM_pred=D;MetaLR_score=0.881;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=2.46;phyloP7way_vertebrate=-0.084;phyloP20way_mammalian=0.774;phastCons7way_vertebrate=0.781;phastCons20way_mammalian=0.092;SiPhy_29way_logOdds=12.451;GDI_full_10282015=.;dpsi_max_tissue=-0.0430;dpsi_zscore=-0.233;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-10.2335,0,-4.6264:8:4:4:140:140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr8 11566283 . C T 384.05 . AB=0.447368;ABP=4.83891;AC=1;AF=0.5;AN=2;AO=34;CIGAR=1X;DP=76;DPB=76;DPRA=0;EPP=23.7032;EPPR=7.30028;GTI=0;LEN=1;MEANALT=2;MQM=31.5294;MQMR=23.2439;NS=1;NUMALT=1;ODDS=88.431;PAIRED=0.558824;PAIREDR=0.585366;PAO=0;PQA=0;PQR=0;PRO=0;QA=990;QR=1349;RO=41;RPL=8;RPP=23.7032;RPPR=36.112;RPR=26;RUN=1;SAF=22;SAP=9.39698;SAR=12;SF=0;SRF=23;SRP=4.33437;SRR=18;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon1:c.C462T:p.F154F,GATA4:NM_002052:exon2:c.C462T:p.F154F;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs56348550;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0.0030;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=395870;CLNDN=Atrioventricular_septal_defect_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C3280781,OMIM:614430|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0531;dpsi_zscore=-0.279;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0021;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0024;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0026;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-49.0303,0,-50.1897:76:41:34:990:1349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr8 11566452 . G A 3730.75 . AB=0.456075;ABP=11.9762;AC=1;AF=0.5;AN=2;AO=244;CIGAR=1X;DP=535;DPB=535;DPRA=0;EPP=35.0484;EPPR=11.1256;GTI=0;LEN=1;MEANALT=3;MQM=36.8975;MQMR=36.4635;NS=1;NUMALT=1;ODDS=859.037;PAIRED=0.831967;PAIREDR=0.828467;PAO=0;PQA=0;PQR=0;PRO=0;QA=6567;QR=8658;RO=274;RPL=125;RPP=3.33068;RPPR=31.5406;RPR=119;RUN=1;SAF=127;SAP=3.90025;SAR=117;SF=1;SRF=136;SRP=3.042;SRR=138;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs767068839;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0114;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1768;dpsi_zscore=0.676;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=4.509e-05;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=3.243e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.685e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-384.128,0,-534.625:535:274:244:6567:8658:274,244 . . . . . . . . . . . . . chr8 11607658 . C T 1249.24 . AB=0.406977;ABP=22.4021;AC=1;AF=0.5;AN=2;AO=105;CIGAR=1X;DP=258;DPB=258;DPRA=0;EPP=20.4028;EPPR=30.7674;GTI=0;LEN=1;MEANALT=3;MQM=34.8;MQMR=36.6739;NS=1;NUMALT=1;ODDS=287.649;PAIRED=0.904762;PAIREDR=0.927536;PAO=0;PQA=0;PQR=0;PRO=0;QA=2702;QR=4320;RO=138;RPL=28;RPP=52.6646;RPPR=48.8945;RPR=77;RUN=1;SAF=64;SAP=13.9504;SAR=41;SF=0;SRF=88;SRP=25.7321;SRR=50;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon3:c.C825T:p.C275C,GATA4:NM_001308094:exon4:c.C204T:p.C68C,GATA4:NM_002052:exon4:c.C822T:p.C274C;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0040;1000g2015aug_all=0.00179712;avsnp147=rs55980825;Kaviar_AF=0.0025226;Kaviar_AC=390;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0012;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0030;ExAC_OTH=0.0022;ExAC_SAS=0.0010;CLNALLELEID=53503;CLNDN=Primary_dilated_cardiomyopathy|Tetralogy_of_Fallot|Atrial_septal_defect_2|Ventricular_septal_defect_1|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|MedGen:C1842778,OMIM:607941|MedGen:C3280777,OMIM:614429|MedGen:C3280781,OMIM:614430|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9744;dpsi_zscore=1.505;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0032;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0041;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-140.465,0,-274.491:258:138:105:2702:4320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr8 11607768 . C T 2083.51 . AB=0.503571;ABP=3.04132;AC=1;AF=0.5;AN=2;AO=141;CIGAR=1X;DP=280;DPB=280;DPRA=0;EPP=5.61299;EPPR=3.26958;GTI=0;LEN=1;MEANALT=3;MQM=33.9362;MQMR=35.3731;NS=1;NUMALT=1;ODDS=479.747;PAIRED=0.836879;PAIREDR=0.791045;PAO=0;PQA=0;PQR=0;PRO=0;QA=3909;QR=4159;RO=134;RPL=100;RPP=56.6195;RPPR=13.9649;RPR=41;RUN=1;SAF=66;SAP=4.25774;SAR=75;SF=0;SRF=65;SRP=3.26958;SRR=69;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0005;1000g2015aug_all=0.000199681;avsnp147=rs201242760;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0003;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0011;ExAC_SAS=6.086e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8256;dpsi_zscore=1.911;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.251e-05;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-221.099,0,-247.065:280:134:141:3909:4159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr8 11614469 . T C 8760.06 . AB=0.426339;ABP=66.3514;AC=1;AF=0.5;AN=2;AO=573;CIGAR=1X;DP=1344;DPB=1344;DPRA=0;EPP=25.4792;EPPR=6.876;GTI=0;LEN=1;MEANALT=3;MQM=33.5323;MQMR=34.9973;NS=1;NUMALT=1;ODDS=2017.08;PAIRED=0.926702;PAIREDR=0.931319;PAO=0;PQA=0;PQR=0;PRO=0;QA=16514;QR=21083;RO=728;RPL=227;RPP=56.6756;RPPR=139.61;RPR=346;RUN=1;SAF=351;SAP=66.074;SAR=222;SF=0;SRF=431;SRP=56.5693;SRR=297;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon5:c.T1026C:p.P342P,GATA4:NM_001308094:exon6:c.T405C:p.P135P,GATA4:NM_002052:exon6:c.T1023C:p.P341P;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=0.0103;esp6500siv2_ea=.;esp6500siv2_all=0.0103;esp6500siv2_ea=.;1000g2015aug_all=0.00758786;avsnp147=rs56206007;Kaviar_AF=0.0026261;Kaviar_AC=406;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0304;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.004e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=240224;CLNDN=Atrioventricular_septal_defect_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C3280781,OMIM:614430|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1523;dpsi_zscore=0.622;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0299;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.274e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0092;gnomAD_genome_AFR=0.0323;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-902.105,0,-1273.31:1344:728:573:16514:21083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr8 11614575 . A G 12471.26 . AB=0.474242;ABP=10.617;AC=32;AF=0.5;AN=60;AO=626;CIGAR=1X;DP=42781;DPB=1320;DPRA=0;EPP=22.0055;EPPR=13.8885;GTI=0;LEN=1;MEANALT=3;MQM=32.7604;MQMR=33.861;NS=1;NUMALT=1;ODDS=2178.93;PAIRED=0.878594;PAIREDR=0.85623;PAO=0;PQA=0;PQR=0;PRO=0;QA=17767;QR=17302;RO=626;RPL=361;RPP=34.9788;RPPR=34.9788;RPR=265;RUN=1;SAF=231;SAP=96.3073;SAR=395;SF=0,1;SRF=214;SRP=139.001;SRR=412;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon5:c.A1132G:p.S378G,GATA4:NM_001308094:exon6:c.A511G:p.S171G,GATA4:NM_002052:exon6:c.A1129G:p.S377G;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=0.1006;esp6500siv2_ea=0.14;esp6500siv2_all=0.1006;esp6500siv2_ea=0.14;1000g2015aug_all=0.0429313;avsnp147=rs3729856;Kaviar_AF=0.0944554;Kaviar_AC=14603;Kaviar_AN=154602;ExAC_ALL=0.0962;ExAC_AFR=0.0204;ExAC_AMR=0.0407;ExAC_EAS=0.0006;ExAC_FIN=0.1405;ExAC_NFE=0.1354;ExAC_OTH=0.1247;ExAC_SAS=0.0556;CLNALLELEID=53501;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.566;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.051;LRT_pred=N;MutationTaster_score=0.402;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=-4.73;FATHMM_pred=D;PROVEAN_score=0.67;PROVEAN_pred=N;VEST3_score=0.181;CADD_raw=0.793;CADD_phred=9.418;DANN_score=0.972;fathmm-MKL_coding_score=0.521;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.395;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=0.906;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=-0.670;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.884;SiPhy_29way_logOdds=1.707;GDI_full_10282015=.;dpsi_max_tissue=0.9106;dpsi_zscore=1.466;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM164458#"Atrial_septal_defect_hypoplastic_aortic_arch_and_dysmorphic_features";gnomAD_exome_ALL=0.0958;gnomAD_exome_AFR=0.0187;gnomAD_exome_AMR=0.0410;gnomAD_exome_ASJ=0.1767;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.1458;gnomAD_exome_NFE=0.1309;gnomAD_exome_OTH=0.1108;gnomAD_exome_SAS=0.0554;gnomAD_genome_ALL=0.1060;gnomAD_genome_AFR=0.0196;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.1788;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1382;gnomAD_genome_NFE=0.1595;gnomAD_genome_OTH=0.1436;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-984.711,0,-972.54:1320:626:626:17767:17302 . . . 0/1:-861.462,0,-1010.06:1262:624:563:15664:17444 0/1:-1131.84,0,-1041.04:1418:643:689:19550:18292 . 0/1:-889.75,0,-893.024:1237:587:595:16471:16165 0/1:-990.416,0,-943.202:1228:567:591:16855:16204 . . . . . . . . . . 0/1:-937.718,0,-889.224:1237:572:604:16607:16115 . . 0/1:-828.199,0,-818.255:1189:531:592:15769:14547 . . 0/1:-1352.27,0,-1415.86:1739:838:813:23477:23992 . . . 0/1:-1373.2,0,-1161.7:1760:774:895:24506:22031 . 1/1:-2777.61,-350.04,0:1313:20:1260:35447:419 . . 0/1:-1417.72,0,-1257.55:1726:770:859:24328:21975 . . . . . 0/1:-1119.37,0,-1188.44:1511:716:715:19957:20273 0/1:-702.361,0,-663.454:901:409:439:12153:11499 . . . 0/1:-1067.06,0,-910.229:1426:633:699:19138:17130 0/1:-1545.41,0,-1348.36:1851:850:908:25795:24218 . . . . 0/1:-675.683,0,-686.711:945:443:452:12268:12142 . . . 0/1:-1353.45,0,-1388.68:1856:878:865:24122:24215 . . 0/1:-1425.23,0,-1544.41:1915:923:880:24934:26414 0/1:-1181.15,0,-1232.98:1581:751:732:20394:20746 . . . . . . . . 0/1:-1031.41,0,-916.964:1240:579:595:17290:16131 . 0/1:-1230.07,0,-1255.39:1664:785:775:21637:22009 . . . . . 0/1:-1351.04,0,-1225.72:1722:782:847:23735:21707 . . 0/1:-1085.14,0,-939.243:1330:607:658:19063:17088 . . . . . 0/1:-1004.88,0,-1006.54:1289:594:621:17709:17077 1/1:-3651.57,-441.649,0:1746:34:1669:47275:850 . . . . . . . . . 0/1:-1286.65,0,-1155.68:1243:590:623:19209:17768:590,623 0/1:-1289.66,0,-1361.01:1390:706:649:19770:20678:706,649 0/1:-1169.83,0,-1178.54:1206:591:582:17584:17975:591,582 . . . . . . . 0/1:-1491.93,0,-1215.05:1382:625:724:22296:18968:625,724 0/1:-1139.41,0,-1146.59:1154:569:557:17131:17266:569,557 . . chr8 74888616 . G C 2326.38 . AB=0.53112;ABP=5.03761;AC=47;AF=0.5;AN=88;AO=128;CIGAR=1X;DP=13463;DPB=241;DPRA=0;EPP=5.45321;EPPR=26.9747;GTI=0;LEN=1;MEANALT=3;MQM=31.7031;MQMR=33.4865;NS=1;NUMALT=1;ODDS=376.513;PAIRED=0.90625;PAIREDR=0.855856;PAO=0;PQA=0;PQR=0;PRO=0;QA=3589;QR=3286;RO=111;RPL=78;RPP=16.3106;RPPR=53.8932;RPR=50;RUN=1;SAF=62;SAP=3.28173;SAR=66;SF=0,1;SRF=57;SRP=3.18637;SRR=54;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_001040613:exon1:c.G100C:p.A34P,TMEM70:NM_017866:exon1:c.G100C:p.A34P;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.1727;esp6500siv2_ea=0.1301;esp6500siv2_all=0.1727;esp6500siv2_ea=0.1301;1000g2015aug_all=0.176118;avsnp147=rs8075;Kaviar_AF=0.0007309;Kaviar_AC=113;Kaviar_AN=154602;ExAC_ALL=0.1770;ExAC_AFR=0.309;ExAC_AMR=0.1743;ExAC_EAS=0.1045;ExAC_FIN=0.1368;ExAC_NFE=0.1674;ExAC_OTH=0.1922;ExAC_SAS=0.1836;CLNALLELEID=136044;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.06;SIFT_pred=T;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.775;Polyphen2_HVAR_pred=P;LRT_score=0.985;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=1.09;FATHMM_pred=T;PROVEAN_score=-1.3;PROVEAN_pred=N;VEST3_score=0.206;CADD_raw=2.230;CADD_phred=17.71;DANN_score=0.995;fathmm-MKL_coding_score=0.215;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.016;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=2.71;phyloP7way_vertebrate=-0.273;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.481;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1444;gnomAD_exome_AFR=0.2686;gnomAD_exome_AMR=0.1284;gnomAD_exome_ASJ=0.2687;gnomAD_exome_EAS=0.0822;gnomAD_exome_FIN=0.0946;gnomAD_exome_NFE=0.1316;gnomAD_exome_OTH=0.1691;gnomAD_exome_SAS=0.1609;gnomAD_genome_ALL=0.1663;gnomAD_genome_AFR=0.2735;gnomAD_genome_AMR=0.1451;gnomAD_genome_ASJ=0.2649;gnomAD_genome_EAS=0.0984;gnomAD_genome_FIN=0.0999;gnomAD_genome_NFE=0.1276;gnomAD_genome_OTH=0.1445;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-201.243,0,-178.098:241:111:128:3589:3286 1/1:-622.71,-89.166,0:360:15:338:9306:261 . . 0/1:-227.1,0,-210.287:324:149:169:4677:4226 . . 1/1:-405.352,-55.4307,0:229:11:217:6207:247 . 0/1:-205.073,0,-270.37:304:158:145:4167:4681 . . . . . . 0/1:-232.938,0,-204.113:299:135:162:4472:4008 0/1:-120.445,0,-175.465:201:114:85:2451:3308 0/1:-191.268,0,-354.344:368:211:153:4231:6292 0/1:-126.429,0,-189.815:205:114:90:2586:3464 0/1:-331.382,0,-356.457:455:234:218:6418:6748 0/1:-196.914,0,-224.777:271:138:130:3717:3889 . 0/1:-262.55,0,-310.311:388:185:196:5358:5427 0/1:-156.75,0,-286.477:281:158:120:3362:4792 . . . . 0/1:-247.029,0,-341.209:366:195:170:4921:5911 0/1:-126.448,0,-132.016:157:79:77:2346:2353 . . . . . 0/1:-112.296,0,-154.779:172:85:85:2409:2572 . 0/1:-210.748,0,-292.21:342:170:167:4820:4983 0/1:-234.127,0,-237.887:293:143:149:4411:4315 . 0/1:-307.49,0,-333.247:445:223:216:6123:6563 0/1:-185.688,0,-235.472:282:149:132:3834:4466 . . . 0/1:-271.745,0,-393.234:416:237:179:5290:6998 . . 0/1:-292.288,0,-353.8:404:208:193:5585:6358 . 0/1:-148.186,0,-196.194:228:115:107:3061:3385 . . 0/1:-128.711,0,-137.33:198:100:96:2809:3003 0/1:-99.9546,0,-156.369:168:87:79:2009:2610 0/1:-204.27,0,-263.937:310:172:136:4036:4841 1/1:-334.747,-45.9472,0:190:9:177:5107:168 0/1:-256.511,0,-363.761:408:217:186:5198:6341 0/1:-214.383,0,-187.871:274:127:142:4070:3699 0/1:-83.2397,0,-218.997:220:131:87:2450:3867 . . . . . . . . . . . 0/1:-183.672,0,-327.255:352:201:149:4131:5880 0/1:-166.884,0,-199.7:277:135:141:4006:3941 . . . 0/1:-240.76,0,-267.16:359:179:176:4928:5288 . . 0/1:-200.901,0,-170.742:241:109:129:3778:3295 . 0/1:-130.826,0,-278.158:270:157:106:2976:4794 0/1:-148.738,0,-169.838:212:106:104:2869:3032 . . . . . . . . . . . 0/1:-466.021,0,-485.694:451:226:220:7125:7228:226,220 0/1:-153.931,0,-180.744:160:85:74:2384:2682:85,74 . 0/1:-452.398,0,-440.117:421:204:216:6790:6589:204,216 0/1:-390.66,0,-370.776:359:176:183:5849:5567:176,183 . . . . 0/1:-363.456,0,-336.29:328:159:167:5455:5104:159,167 0/1:-338.759,0,-333.021:331:162:163:5177:5074:162,163 . 0/1:-462.229,0,-659.108:530:293:232:7522:9511:293,232 0/1:-446.183,0,-327.387:373:165:204:6503:5210:165,204 . . . . chr8 74890960 . TA TG 12485.40 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=567;CIGAR=1M1X;DP=627;DPB=629.5;DPRA=0;EPP=20.2021;EPPR=5.18177;GTI=0;LEN=1;MEANALT=7;MQM=35.4885;MQMR=41.5;NS=1;NUMALT=1;ODDS=626.403;PAIRED=0.938272;PAIREDR=0.75;PAO=3.66667;PQA=104.333;PQR=15.3333;PRO=0.666667;QA=15673;QR=102;RO=4;RPL=202;RPP=104.763;RPPR=5.18177;RPR=365;RUN=1;SAF=372;SAP=122.993;SAR=195;SF=1;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1275.54,-165.487,0:627:4:567:15673:102:4,567 . . . . chr8 74890961 . A G 6541.22 . AB=0.475648;ABP=7.98106;AC=94;AF=0.5;AN=158;AO=459;CIGAR=1X;DP=62624;DPB=965;DPRA=0;EPP=59.2178;EPPR=27.0635;GTI=0;LEN=1;MEANALT=3;MQM=35.2353;MQMR=35.9338;NS=1;NUMALT=1;ODDS=1437.41;PAIRED=0.956427;PAIREDR=0.948718;PAO=0;PQA=0;PQR=0;PRO=0;QA=11414;QR=12977;RO=468;RPL=162;RPP=89.2305;RPPR=63.3104;RPR=297;RUN=1;SAF=283;SAP=57.1741;SAR=176;SF=0,1;SRF=297;SRP=76.6733;SRR=171;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.4762;esp6500siv2_ea=0.4551;esp6500siv2_all=0.4762;esp6500siv2_ea=0.4551;1000g2015aug_all=0.477835;avsnp147=rs62509309;Kaviar_AF=0.0025679;Kaviar_AC=397;Kaviar_AN=154602;ExAC_ALL=0.4850;ExAC_AFR=0.5264;ExAC_AMR=0.6359;ExAC_EAS=0.3211;ExAC_FIN=0.4885;ExAC_NFE=0.4598;ExAC_OTH=0.4820;ExAC_SAS=0.5368;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2151;dpsi_zscore=0.752;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4823;gnomAD_exome_AFR=0.5204;gnomAD_exome_AMR=0.6246;gnomAD_exome_ASJ=0.4399;gnomAD_exome_EAS=0.3033;gnomAD_exome_FIN=0.4824;gnomAD_exome_NFE=0.4526;gnomAD_exome_OTH=0.4780;gnomAD_exome_SAS=0.5300;gnomAD_genome_ALL=0.4743;gnomAD_genome_AFR=0.5245;gnomAD_genome_AMR=0.5789;gnomAD_genome_ASJ=0.4631;gnomAD_genome_EAS=0.3483;gnomAD_genome_FIN=0.4861;gnomAD_genome_NFE=0.4510;gnomAD_genome_OTH=0.4656;Whole_Blood=.;Liver=Liver::0.421053::0.173737;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-651.993,0,-765.605:965:468:459:11414:12977 . 0/1:-315.683,0,-553.377:595:312:247:6138:8805 1/1:-1430.26,-212.35,0:852:16:772:19051:312 . 0/1:-668.807,0,-569.666:838:362:445:11224:10158 0/1:-438.741,0,-747.206:815:427:356:8943:11983 . 0/1:-669.8,0,-859.944:1046:509:479:12107:14434 1/1:-1275.97,-164.833,0:779:29:691:17628:668 0/1:-598.187,0,-831.062:929:483:400:10606:13407 0/1:-419.025,0,-607.256:741:366:336:8342:10208 0/1:-542.007,0,-608.449:781:365:369:9565:10512 . . 0/1:-516.204,0,-518.061:711:327:349:8951:9243 0/1:-1063.8,0,-1306.98:1535:776:702:18459:21736 . 0/1:-315.213,0,-536.909:613:312:268:6620:8858 0/1:-299.406,0,-571.432:644:351:268:6389:9620 0/1:-537.943,0,-925.71:1000:522:433:10828:14752 1/1:-923.089,-132.559,0:539:12:484:12277:279 0/1:-509.364,0,-835.759:918:480:402:10144:13414 0/1:-469.95,0,-782.52:903:473:386:9548:13348 0/1:-336.647,0,-585.344:628:337:258:6348:9520 0/1:-498.325,0,-671.208:848:409:390:9321:11256 1/1:-1626.11,-230.947,0:905:16:842:21030:317 0/1:-419.616,0,-577.191:696:347:309:7766:9707 1/1:-1193,-155.811,0:615:15:565:14880:374 . 0/1:-790.765,0,-1009.68:1206:595:562:13876:16791 0/1:-537.684,0,-799.239:939:464:425:10496:13030 0/1:-459.484,0,-661.546:804:404:355:9102:11195 . . 0/1:-558.401,0,-758.797:867:437:388:10155:12424 . . 0/1:-278.368,0,-474.482:513:263:226:5592:7572 . 0/1:-417.626,0,-572.382:695:345:325:8077:9662 0/1:-452.105,0,-794.305:887:469:374:9401:13171 . 1/1:-1752.79,-246.127,0:982:17:894:22848:365 0/1:-498.95,0,-849.726:938:485:398:10058:13391 . 0/1:-270.739,0,-451.112:466:251:192:4972:6934 . 1/1:-1759.29,-230.545,0:979:23:886:23084:574 . . 0/1:-590.111,0,-814.348:992:494:453:11617:13639 . 0/1:-353.345,0,-450.651:614:293:289:7173:7880 0/1:-503.415,0,-522.823:695:323:330:8449:9056 0/1:-547.103,0,-801.445:881:469:374:9729:13274 0/1:-270.996,0,-429.81:501:259:211:5286:7156 0/1:-379.69,0,-497.01:613:296:292:7278:8344 0/1:-354.644,0,-631.932:706:371:299:7275:10205 1/1:-963.953,-144.963,0:604:12:530:12992:269 0/1:-468.319,0,-957.055:1003:551:404:9785:15366 0/1:-342.034,0,-609.382:647:342:277:6909:9683 0/1:-310.543,0,-488.493:579:284:253:6510:8219 . . . 0/1:-640.242,0,-824.787:967:475:449:11342:13507 . 0/1:-688.894,0,-886.751:1044:511:471:12232:14443 0/1:-476.802,0,-653.818:777:395:341:8516:10808 . 0/1:-640.823,0,-823.266:982:494:438:11368:13645 . 0/1:-661.246,0,-653.78:867:406:430:11294:11350 1/1:-1729.57,-227.527,0:966:23:875:22420:633 0/1:-553.26,0,-858.663:967:495:427:10828:13793 1/1:-1875.71,-249.531,0:996:20:916:23875:436 . 0/1:-354.312,0,-347.264:488:229:236:6070:6322 0/1:-430.645,0,-926.267:935:520:374:9397:14712 . . 0/1:-540.748,0,-619.676:831:385:396:10052:10748 0/1:-604.8,0,-632.798:823:398:400:10563:11115 0/1:-419.496,0,-619.534:757:380:344:8240:10681 0/1:-424.496,0,-557.624:720:341:333:8409:9527 0/1:-663.165,0,-731.853:948:449:447:11496:12361 . 0/1:-669.309,0,-718.855:931:433:449:11313:12313 . 0/1:-519.873,0,-753.779:824:419:370:9295:11970 0/1:-799.523,0,-887.411:1162:559:549:13807:15479 0/1:-579.107,0,-670.611:829:395:402:10235:11292 . . 0/1:-549.731,0,-560.154:635:305:298:8655:8845:305,298 1/1:-1469.63,-178.387,0:664:8:624:18337:147:8,624 0/1:-460.423,0,-834.649:756:419:293:8377:12549:419,293 1/1:-821.702,-97.4893,0:386:5:364:10238:154:5,364 0/1:-588.409,0,-520.641:656:297:341:9749:8446:297,341 1/1:-1706.59,-200.983,0:785:14:745:21310:329:14,745 0/1:-409.701,0,-503.147:574:282:260:7321:8112:282,260 . 1/1:-1464.86,-177.172,0:655:6:625:17792:163:6,625 . 0/1:-626.812,0,-683.916:798:391:368:10381:11131:391,368 1/1:-1097.38,-128.531,0:494:5:468:13782:158:5,468 0/1:-432.753,0,-529.321:609:306:279:7750:8515:306,279 0/1:-506.113,0,-509.77:584:281:279:8064:7927:281,279 0/1:-455.792,0,-769.333:754:421:313:8727:12004:421,313 . 0/1:-691.624,0,-678:813:381:392:11093:11030:381,392 . 0/1:-506.19,0,-526.79:640:314:297:8354:8515:314,297 . chr8 74890961 . A G 7642.70 . AB=0.469291;ABP=8.21157;AC=20;AF=0.5;AN=30;AO=298;CIGAR=1X;DP=9803;DPB=635;DPRA=0;EPP=22.7139;EPPR=24.547;GTI=0;LEN=1;MEANALT=3;MQM=37.604;MQMR=38.623;NS=1;NUMALT=1;ODDS=1219.02;PAIRED=0.926174;PAIREDR=0.931148;PAO=0;PQA=0;PQR=0;PRO=0;QA=8655;QR=8845;RO=305;RPL=101;RPP=70.1656;RPPR=67.2645;RPR=197;RUN=1;SAF=186;SAP=42.9129;SAR=112;SF=1;SRF=184;SRP=31.2679;SRR=121;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.4762;esp6500siv2_ea=0.4551;esp6500siv2_all=0.4762;esp6500siv2_ea=0.4551;1000g2015aug_all=0.477835;avsnp147=rs62509309;Kaviar_AF=0.0025679;Kaviar_AC=397;Kaviar_AN=154602;ExAC_ALL=0.4850;ExAC_AFR=0.5264;ExAC_AMR=0.6359;ExAC_EAS=0.3211;ExAC_FIN=0.4885;ExAC_NFE=0.4598;ExAC_OTH=0.4820;ExAC_SAS=0.5368;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2151;dpsi_zscore=0.752;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4823;gnomAD_exome_AFR=0.5204;gnomAD_exome_AMR=0.6246;gnomAD_exome_ASJ=0.4399;gnomAD_exome_EAS=0.3033;gnomAD_exome_FIN=0.4824;gnomAD_exome_NFE=0.4526;gnomAD_exome_OTH=0.4780;gnomAD_exome_SAS=0.5300;gnomAD_genome_ALL=0.4743;gnomAD_genome_AFR=0.5245;gnomAD_genome_AMR=0.5789;gnomAD_genome_ASJ=0.4631;gnomAD_genome_EAS=0.3483;gnomAD_genome_FIN=0.4861;gnomAD_genome_NFE=0.4510;gnomAD_genome_OTH=0.4656;Whole_Blood=.;Liver=Liver::0.421053::0.173737;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-549.731,0,-560.154:635:305:298:8655:8845:305,298 1/1:-1469.63,-178.387,0:664:8:624:18337:147:8,624 0/1:-460.423,0,-834.649:756:419:293:8377:12549:419,293 1/1:-821.702,-97.4893,0:386:5:364:10238:154:5,364 0/1:-588.409,0,-520.641:656:297:341:9749:8446:297,341 1/1:-1706.59,-200.983,0:785:14:745:21310:329:14,745 0/1:-409.701,0,-503.147:574:282:260:7321:8112:282,260 . 1/1:-1464.86,-177.172,0:655:6:625:17792:163:6,625 . 0/1:-626.812,0,-683.916:798:391:368:10381:11131:391,368 1/1:-1097.38,-128.531,0:494:5:468:13782:158:5,468 0/1:-432.753,0,-529.321:609:306:279:7750:8515:306,279 0/1:-506.113,0,-509.77:584:281:279:8064:7927:281,279 0/1:-455.792,0,-769.333:754:421:313:8727:12004:421,313 . 0/1:-691.624,0,-678:813:381:392:11093:11030:381,392 . 0/1:-506.19,0,-526.79:640:314:297:8354:8515:314,297 . chr8 74893419 . C G 6369.09 . AB=0.42813;ABP=32.0382;AC=7;AF=0.5;AN=14;AO=277;CIGAR=1X;DP=5079;DPB=647;DPRA=0;EPP=13.7422;EPPR=22.05;GTI=0;LEN=1;MEANALT=3;MQM=38.8736;MQMR=39.0116;NS=1;NUMALT=1;ODDS=1101.7;PAIRED=0.978339;PAIREDR=0.965217;PAO=0;PQA=0;PQR=0;PRO=0;QA=7928;QR=10119;RO=345;RPL=132;RPP=4.33513;RPPR=3.01659;RPR=145;RUN=1;SAF=112;SAP=25.0308;SAR=165;SF=0,1;SRF=138;SRP=32.9766;SRR=207;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C346G:p.L116V;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0177;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0177;1000g2015aug_all=0.0227636;avsnp147=rs61732273;Kaviar_AF=0.0223218;Kaviar_AC=3451;Kaviar_AN=154602;ExAC_ALL=0.0235;ExAC_AFR=0.0174;ExAC_AMR=0.0163;ExAC_EAS=0.0186;ExAC_FIN=0.0472;ExAC_NFE=0.0202;ExAC_OTH=0.0243;ExAC_SAS=0.0388;CLNALLELEID=136045;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.229;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.855;MutationAssessor_pred=L;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_pred=N;VEST3_score=0.076;CADD_raw=-2.907;CADD_phred=0.001;DANN_score=0.501;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.988;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-9.73;phyloP7way_vertebrate=-0.900;phyloP20way_mammalian=-0.476;phastCons7way_vertebrate=0.438;phastCons20way_mammalian=0.313;SiPhy_29way_logOdds=1.839;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0237;gnomAD_exome_AFR=0.0182;gnomAD_exome_AMR=0.0165;gnomAD_exome_ASJ=0.0249;gnomAD_exome_EAS=0.0169;gnomAD_exome_FIN=0.0458;gnomAD_exome_NFE=0.0193;gnomAD_exome_OTH=0.0261;gnomAD_exome_SAS=0.0370;gnomAD_genome_ALL=0.0233;gnomAD_genome_AFR=0.0181;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0179;gnomAD_genome_FIN=0.0429;gnomAD_genome_NFE=0.0219;gnomAD_genome_OTH=0.0305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-490.943,0,-674.538:647:345:277:7928:10119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-758.468,0,-981.596:954:492:426:12024:14442 . . . . . . 0/1:-704.281,0,-702.288:746:354:364:10544:10606 . . . . . . . . . . . . . . . . . . . . 0/1:-812.996,0,-831.123:850:415:414:12240:12540 . . . . . . . . . 0/1:-661.929,0,-807.666:780:398:359:10236:11900 . . . . . . . . 0/1:-499.075,0,-585.574:526:272:247:7546:8508:272,247 0/1:-481.488,0,-736.418:576:329:240:7462:10486:329,240 . . . . . . . . . . . . . . . . . . chr8 74893653 . G A 6416.93 . AB=0.480989;ABP=4.66161;AC=3;AF=0.5;AN=6;AO=253;CIGAR=1X;DP=2072;DPB=526;DPRA=0;EPP=12.3571;EPPR=33.2727;GTI=0;LEN=1;MEANALT=3;MQM=39.7233;MQMR=40.2584;NS=1;NUMALT=1;ODDS=1149.32;PAIRED=0.988142;PAIREDR=0.977528;PAO=0;PQA=0;PQR=0;PRO=0;QA=7855;QR=8021;RO=267;RPL=104;RPP=20.3907;RPPR=5.3607;RPR=149;RUN=1;SAF=164;SAP=51.2891;SAR=89;SF=0;SRF=168;SRP=41.7308;SRR=99;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.G580A:p.V194M;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.0110;esp6500siv2_ea=0.0156;esp6500siv2_all=0.0110;esp6500siv2_ea=0.0156;1000g2015aug_all=0.0071885;avsnp147=rs77410280;Kaviar_AF=0.0122896;Kaviar_AC=1900;Kaviar_AN=154602;ExAC_ALL=0.0122;ExAC_AFR=0.0018;ExAC_AMR=0.0065;ExAC_EAS=0;ExAC_FIN=0.0180;ExAC_NFE=0.0170;ExAC_OTH=0.0110;ExAC_SAS=0.0072;CLNALLELEID=215388;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.038;SIFT_pred=D;Polyphen2_HDIV_score=0.922;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.759;Polyphen2_HVAR_pred=P;LRT_score=0.057;LRT_pred=N;MutationTaster_score=0.946;MutationTaster_pred=D;MutationAssessor_score=2.095;MutationAssessor_pred=M;FATHMM_score=-0.13;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_pred=N;VEST3_score=0.098;CADD_raw=0.759;CADD_phred=9.206;DANN_score=0.995;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.568;MetaSVM_pred=T;MetaLR_score=0.156;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=3.56;phyloP7way_vertebrate=0.015;phyloP20way_mammalian=0.132;phastCons7way_vertebrate=0.975;phastCons20way_mammalian=0.961;SiPhy_29way_logOdds=14.893;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0125;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0377;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0154;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0069;gnomAD_genome_ALL=0.0119;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0172;gnomAD_genome_NFE=0.0173;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-513.437,0,-533.367:526:267:253:7855:8021 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-893.328,0,-920.648:900:444:439:13334:13874 . . . . . . . . . . . . . . . . . . . . . 0/1:-563.853,0,-686.042:646:339:295:8731:10323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr8 74893757 . C G 6072.01 . AB=0.449794;ABP=18.9275;AC=1;AF=0.5;AN=2;AO=327;CIGAR=1X;DP=727;DPB=727;DPRA=0;EPP=3.54819;EPPR=5.52374;GTI=0;LEN=1;MEANALT=3;MQM=39.4312;MQMR=40.3255;NS=1;NUMALT=1;ODDS=1398.13;PAIRED=0.993884;PAIREDR=0.979003;PAO=0;PQA=0;PQR=0;PRO=0;QA=9640;QR=11408;RO=381;RPL=160;RPP=3.33569;RPPR=3.15279;RPR=167;RUN=1;SAF=157;SAP=4.13256;SAR=170;SF=0;SRF=197;SRP=3.9735;SRR=184;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C684G:p.N228K;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.0052;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0052;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00479233;avsnp147=rs35564486;Kaviar_AF=0.0017205;Kaviar_AC=266;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0169;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0022;ExAC_SAS=6.059e-05;CLNALLELEID=141382;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|not_provided;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.05;SIFT_pred=D;Polyphen2_HDIV_score=0.714;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.34;Polyphen2_HVAR_pred=B;LRT_score=0.098;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_pred=D;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=-0.05;FATHMM_pred=T;PROVEAN_score=-3.19;PROVEAN_pred=D;VEST3_score=0.058;CADD_raw=0.610;CADD_phred=8.229;DANN_score=0.926;fathmm-MKL_coding_score=0.356;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.093;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=0.39;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-0.382;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.081;SiPhy_29way_logOdds=4.729;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0176;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.497e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0016;gnomAD_exome_SAS=6.497e-05;gnomAD_genome_ALL=0.0051;gnomAD_genome_AFR=0.0173;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-615.884,0,-775.577:727:381:327:9640:11408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr8 74893821 . A G 5575.62 . AB=0.424691;ABP=22.961;AC=55;AF=0.5;AN=100;AO=172;CIGAR=1X;DP=27207;DPB=405;DPRA=0;EPP=27.452;EPPR=19.9593;GTI=0;LEN=1;MEANALT=3;MQM=39.4302;MQMR=40.2832;NS=1;NUMALT=1;ODDS=725.294;PAIRED=0.994186;PAIREDR=0.977876;PAO=0;PQA=0;PQR=0;PRO=0;QA=5241;QR=6979;RO=226;RPL=61;RPP=34.5724;RPPR=15.4626;RPR=111;RUN=1;SAF=93;SAP=5.48477;SAR=79;SF=0,1;SRF=121;SRP=5.47002;SRR=105;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.A748G:p.T250A;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.2237;esp6500siv2_ea=0.1556;esp6500siv2_all=0.2237;esp6500siv2_ea=0.1556;1000g2015aug_all=0.258986;avsnp147=rs1053079;Kaviar_AF=0.195114;Kaviar_AC=30165;Kaviar_AN=154602;ExAC_ALL=0.2012;ExAC_AFR=0.3721;ExAC_AMR=0.3657;ExAC_EAS=0.1152;ExAC_FIN=0.1413;ExAC_NFE=0.1603;ExAC_OTH=0.1962;ExAC_SAS=0.2183;CLNALLELEID=136046;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.772;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.034;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.12;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=0.51;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=-3.329;CADD_phred=0.001;DANN_score=0.180;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.969;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=-2.28;phyloP7way_vertebrate=-2.904;phyloP20way_mammalian=-0.936;phastCons7way_vertebrate=0.304;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=3.487;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2066;gnomAD_exome_AFR=0.3718;gnomAD_exome_AMR=0.3611;gnomAD_exome_ASJ=0.3136;gnomAD_exome_EAS=0.1107;gnomAD_exome_FIN=0.1408;gnomAD_exome_NFE=0.1522;gnomAD_exome_OTH=0.2289;gnomAD_exome_SAS=0.2138;gnomAD_genome_ALL=0.2195;gnomAD_genome_AFR=0.3722;gnomAD_genome_AMR=0.3508;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.1310;gnomAD_genome_FIN=0.1428;gnomAD_genome_NFE=0.1506;gnomAD_genome_OTH=0.1888;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-329.517,0,-478.647:405:226:172:5241:6979 1/1:-1214.49,-120.976,0:484:8:466:14573:245 . . 0/1:-507.3,0,-635.085:559:296:255:7922:9343 . . 1/1:-1290.32,-130.103,0:507:7:484:15282:200 . 0/1:-511.464,0,-584.586:532:274:247:7750:8637 . . . 0/1:-401.56,0,-472.885:443:222:210:6369:7074 . . 0/1:-414.27,0,-500.491:453:240:205:6433:7359 0/1:-338.806,0,-449.916:380:204:168:5303:6564 0/1:-769.243,0,-728.31:723:341:367:11463:10872 0/1:-348.305,0,-441.171:410:214:188:5607:6586 0/1:-548.67,0,-831.916:659:369:280:8738:11912 0/1:-565.095,0,-786.543:652:358:285:8941:11475 . 0/1:-547.292,0,-675.019:588:307:267:8392:9774 0/1:-633.818,0,-641.944:624:304:312:9591:9621 . . . . 0/1:-554.418,0,-764.224:632:349:269:8600:10940 0/1:-540.049,0,-644.712:604:305:285:8466:9610 . . . . . 0/1:-366.723,0,-383.609:361:179:177:5490:5658 . 0/1:-428.923,0,-561.573:495:266:219:6675:8222 0/1:-524.916,0,-641.929:569:299:259:8097:9329 . 0/1:-671.02,0,-927.116:791:433:343:10413:13438 0/1:-506.058,0,-715.573:585:322:252:7862:10216 . . . 1/1:-1385.47,-120.181,0:564:18:539:16742:551 . . 0/1:-645.764,0,-921.857:751:418:323:10079:13218 . 0/1:-426.448,0,-520.306:480:249:214:6641:7731 . 0/1:-582.844,0,-675.151:603:312:282:8911:9930 0/1:-293.654,0,-401.904:357:194:156:4698:5953 0/1:-423.23,0,-512.605:463:238:210:6530:7511 0/1:-581.71,0,-514.441:532:248:275:8651:7795 1/1:-776.118,-81.3857,0:309:3:299:9149:108 0/1:-620.646,0,-786.865:700:363:322:9719:11521 0/1:-491.229,0,-539.84:488:247:233:7329:7880 0/1:-342.078,0,-555.985:445:259:182:5529:8004 . . . . . . . . . . . 0/1:-666.67,0,-704.425:687:337:329:10176:10649 0/1:-438.552,0,-796.933:600:354:235:7184:11287 0/1:-588.645,0,-840.669:695:386:294:9204:12063 . . 0/1:-528.061,0,-645.028:578:304:262:8076:9415 . . 0/1:-487.292,0,-556.355:507:266:236:7447:8147 . 0/1:-479.567,0,-503.096:493:241:245:7303:7530 0/1:-472.013,0,-445.527:454:216:231:7194:6747 0/1:-460.175,0,-860.656:655:395:247:7751:12169 . . . . . . . . 0/1:-477.043,0,-648.31:539:290:237:7439:9231:290,237 1/1:-1433.21,-135.853,0:548:10:531:16900:307:10,531 0/1:-706.022,0,-725.204:694:343:338:10674:10738:343,338 0/1:-316.646,0,-387.975:355:185:156:4857:5642:185,156 . 0/1:-611.28,0,-777.225:675:364:298:9384:11233:364,298 0/1:-440.392,0,-637.553:520:290:216:6939:9135:290,216 . . . . 0/1:-392.56,0,-593.733:474:272:196:6214:8532:272,196 0/1:-482.608,0,-531.029:500:249:235:7262:7886:249,235 . 0/1:-436.135,0,-580.936:505:276:218:6858:8561:276,218 0/1:-575.18,0,-602.88:580:291:277:8739:8859:291,277 . . . . chr8 74893850 . C G 5079.18 . AB=0.413882;ABP=28.0688;AC=55;AF=0.5;AN=100;AO=161;CIGAR=1X;DP=25165;DPB=389;DPRA=0;EPP=6.90816;EPPR=4.18854;GTI=0;LEN=1;MEANALT=3;MQM=39.5839;MQMR=40.6771;NS=1;NUMALT=1;ODDS=674.388;PAIRED=0.993789;PAIREDR=0.982063;PAO=0;PQA=0;PQR=0;PRO=0;QA=4886;QR=6994;RO=223;RPL=96;RPP=15.9717;RPPR=16.341;RPR=65;RUN=1;SAF=88;SAP=6.04497;SAR=73;SF=0,1;SRF=122;SRP=7.30456;SRR=101;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C777G:p.D259E;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.2205;esp6500siv2_ea=0.1556;esp6500siv2_all=0.2205;esp6500siv2_ea=0.1556;1000g2015aug_all=0.258986;avsnp147=rs1053077;Kaviar_AF=0.192999;Kaviar_AC=29838;Kaviar_AN=154602;ExAC_ALL=0.2011;ExAC_AFR=0.3724;ExAC_AMR=0.3642;ExAC_EAS=0.1151;ExAC_FIN=0.1404;ExAC_NFE=0.1605;ExAC_OTH=0.1957;ExAC_SAS=0.2183;CLNALLELEID=136047;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.95;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_pred=T;PROVEAN_score=0.75;PROVEAN_pred=N;VEST3_score=0.04;CADD_raw=-1.736;CADD_phred=0.002;DANN_score=0.498;fathmm-MKL_coding_score=0.045;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.953;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=-1.73;phyloP7way_vertebrate=-2.247;phyloP20way_mammalian=-0.203;phastCons7way_vertebrate=0.464;phastCons20way_mammalian=0.085;SiPhy_29way_logOdds=0.924;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2068;gnomAD_exome_AFR=0.3722;gnomAD_exome_AMR=0.3605;gnomAD_exome_ASJ=0.3124;gnomAD_exome_EAS=0.1103;gnomAD_exome_FIN=0.1409;gnomAD_exome_NFE=0.1516;gnomAD_exome_OTH=0.2286;gnomAD_exome_SAS=0.2135;gnomAD_genome_ALL=0.2196;gnomAD_genome_AFR=0.3722;gnomAD_genome_AMR=0.3517;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.1309;gnomAD_genome_FIN=0.1431;gnomAD_genome_NFE=0.1506;gnomAD_genome_OTH=0.1898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-304.044,0,-488.914:389:223:161:4886:6994 1/1:-1170.68,-122.924,0:464:7:455:13907:182 . . 0/1:-478.444,0,-572.515:505:262:240:7419:8467 . . 1/1:-1227.2,-123.574,0:490:9:475:14786:249 . 0/1:-481.046,0,-549.006:504:267:232:7415:8143 . . . 0/1:-362.752,0,-454.99:424:220:203:5915:6847 . . 0/1:-376.678,0,-490.728:427:226:191:5870:7130 0/1:-317.346,0,-421.924:366:199:164:5052:6200 0/1:-704.066,0,-702.727:664:328:331:10590:10355 0/1:-331.173,0,-404.888:377:196:178:5325:6062 0/1:-471.544,0,-811.359:618:355:254:7741:11509 0/1:-495.314,0,-776.656:594:337:254:7864:11060 . 0/1:-460.535,0,-573.302:510:274:228:7164:8336 0/1:-620.359,0,-585.141:577:279:288:9352:8777 . . . . 0/1:-499.286,0,-694.565:581:322:253:7797:10028 0/1:-513.88,0,-597.391:554:284:265:7951:8889 . . . . . 0/1:-343.786,0,-357.257:336:167:163:5133:5280 . 0/1:-378.05,0,-514.981:441:243:194:6002:7559 0/1:-462.87,0,-596.213:517:273:238:7226:8640 . 0/1:-633.088,0,-862.175:723:392:323:9856:12513 0/1:-423.012,0,-629.587:517:287:224:6743:8975 . . . 1/1:-1264.97,-110.164,0:513:16:495:15320:506 . . 0/1:-603.145,0,-860.162:701:389:300:9505:12332 . 0/1:-366.76,0,-490.232:422:224:190:5847:7103 . 0/1:-516.585,0,-656.23:558:293:259:7907:9545 0/1:-251.558,0,-389.831:327:182:138:4181:5605 0/1:-356.715,0,-468.81:413:228:177:5555:6850 0/1:-495.737,0,-488.032:485:234:243:7508:7322 1/1:-701.222,-75.2199,0:280:3:271:8256:82 0/1:-563.431,0,-713.909:637:330:294:8959:10426 0/1:-419.913,0,-511.142:454:235:215:6451:7473 0/1:-306.591,0,-505.574:398:234:161:4897:7289 . . . . . . . . . . . 0/1:-598.364,0,-665.795:635:318:304:9251:10016 0/1:-380.464,0,-748.185:542:323:212:6316:10490 0/1:-548.451,0,-784.421:648:357:278:8608:11244 . . 0/1:-488.388,0,-614.911:536:284:241:7475:8949 . . 0/1:-442.797,0,-527.518:467:244:216:6753:7582 . 0/1:-456.496,0,-503.435:471:236:228:6983:7468 0/1:-411.235,0,-451.623:425:214:207:6336:6742 0/1:-420.676,0,-857.447:615:382:231:7180:12074 . . . . . . . . 0/1:-444.839,0,-608.098:498:271:224:6901:8722:271,224 1/1:-1382.28,-126.73,0:530:13:515:16386:373:13,515 0/1:-660.088,0,-769.785:669:342:318:10031:11148:342,318 0/1:-310.941,0,-367.079:327:169:150:4730:5375:169,150 . 0/1:-538.535,0,-798.831:628:354:264:8431:11368:354,264 0/1:-458.444,0,-620.11:496:279:216:7083:8929:279,216 . . . . 0/1:-362.333,0,-538.568:432:243:178:5691:7698:243,178 0/1:-459.191,0,-520.914:464:242:219:6952:7646:242,219 . 0/1:-427.753,0,-587.338:485:266:210:6732:8529:266,210 0/1:-501.162,0,-613.665:531:275:250:7640:8908:275,250 . . . . chr9 7161999 . A C 2244.08 . AB=0.477941;ABP=4.7347;AC=7;AF=0.5;AN=14;AO=195;CIGAR=1X;DP=2070;DPB=408;DPRA=0;EPP=23.6003;EPPR=6.83421;GTI=0;LEN=1;MEANALT=3;MQM=39.7026;MQMR=39.5122;NS=1;NUMALT=1;ODDS=724.22;PAIRED=0.984615;PAIREDR=0.970732;PAO=0;PQA=0;PQR=0;PRO=0;QA=5274;QR=5983;RO=205;RPL=50;RPP=103.51;RPPR=128.86;RPR=145;RUN=1;SAF=126;SAP=39.1904;SAR=69;SF=0,1;SRF=141;SRP=65.8135;SRR=64;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9p24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00599042;avsnp147=rs144877987;Kaviar_AF=0.0121024;Kaviar_AC=315;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0101;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0108;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0074;gnomAD_genome_NFE=0.0156;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . 0/1:-337.859,0,-392.058:408:205:195:5274:5983 . . . . . . . . . . . . . . 0/1:-213.077,0,-281.49:274:149:120:3380:4223 . . . 0/1:-272.014,0,-358.467:338:174:163:4233:5272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-285.273,0,-365.998:359:194:159:4490:5542 0/1:-152.292,0,-176.536:216:112:98:2483:2756 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-204.722,0,-205.51:199:97:102:3014:3058:97,102 . . . 0/1:-203.76,0,-332.663:276:157:118:3376:4808:157,118 . . . . . . . . . . . . chr9 7162001 . CTT CT 2834.55 . AB=0.480676;ABP=4.35305;AC=1;AF=0.5;AN=2;AO=199;CIGAR=1M1D1M;DP=414;DPB=347.333;DPRA=0;EPP=33.6619;EPPR=19.184;GTI=0;LEN=1;MEANALT=10;MQM=40.4221;MQMR=40.6609;NS=1;NUMALT=1;ODDS=652.679;PAIRED=0.994975;PAIREDR=0.982759;PAO=0;PQA=0;PQR=0;PRO=0;QA=4739;QR=4962;RO=174;RPL=63;RPP=61.1599;RPPR=47.9373;RPR=136;RUN=1;SAF=136;SAP=61.1599;SAR=63;SF=0;SRF=126;SRP=78.937;SRR=48;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9p24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-305.876,0,-322.395:414:174:199:4739:4962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr9 7162074 . A C 7711.16 . AB=0.510965;ABP=3.4865;AC=6;AF=0.5;AN=10;AO=233;CIGAR=1X;DP=2696;DPB=456;DPRA=0;EPP=3.24329;EPPR=4.43163;GTI=0;LEN=1;MEANALT=2;MQM=38.9871;MQMR=40.2591;NS=1;NUMALT=1;ODDS=977.581;PAIRED=0.974249;PAIREDR=0.972727;PAO=0;PQA=0;PQR=0;PRO=0;QA=6793;QR=6668;RO=220;RPL=110;RPP=4.58532;RPPR=18.8028;RPR=123;RUN=1;SAF=121;SAP=3.76519;SAR=112;SF=0,1;SRF=132;SRP=22.1193;SRR=88;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9p24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0061901;avsnp147=rs147959309;Kaviar_AF=0.0112571;Kaviar_AC=293;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0125;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-437.772,0,-435.512:456:220:233:6793:6668 . . . . . . . . . . . . . . . . . . 1/1:-1575.93,-123.146,0:691:43:645:19407:984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-468.897,0,-399.841:449:216:232:6975:6324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-454.264,0,-567.669:499:274:222:6930:8338:274,222 . . . . . . . . . . . . . . . . . 0/1:-616.606,0,-629.126:601:303:297:9294:9363:303,297 . chr9 7162351 . G A 5874.60 . AB=0.465046;ABP=6.50182;AC=76;AF=0.5;AN=124;AO=153;CIGAR=1X;DP=28049;DPB=329;DPRA=0;EPP=115.43;EPPR=100.777;GTI=0;LEN=1;MEANALT=3;MQM=39.5752;MQMR=39.5174;NS=1;NUMALT=1;ODDS=675.939;PAIRED=0.96732;PAIREDR=0.982558;PAO=0;PQA=0;PQR=0;PRO=0;QA=4794;QR=5376;RO=172;RPL=67;RPP=8.13384;RPPR=3.46479;RPR=86;RUN=1;SAF=66;SAP=9.26925;SAR=87;SF=0,1;SRF=65;SRP=25.2805;SRR=107;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9p24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.126797;avsnp147=rs7868863;Kaviar_AF=0.167704;Kaviar_AC=4365;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1630;gnomAD_genome_AFR=0.1680;gnomAD_genome_AMR=0.1531;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.1125;gnomAD_genome_NFE=0.1872;gnomAD_genome_OTH=0.1616;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-313.751,0,-356.878:329:172:153:4794:5376 1/1:-1199.05,-121.721,0:486:8:470:14538:267 . . . 0/1:-374.548,0,-454.866:387:200:178:5715:6599 . . 0/1:-467.355,0,-461.544:445:217:222:7004:6954 0/1:-375.679,0,-526.906:428:234:191:5978:7706 . . 0/1:-548.385,0,-599.645:546:272:267:8305:8835 . 0/1:-925.386,0,-960.915:886:434:438:13879:14281 0/1:-462.857,0,-510.082:469:238:224:7171:7685 . . 0/1:-514.891,0,-662.441:565:303:254:7958:9661 0/1:-266.413,0,-281.834:280:133:142:4149:4389 . . 0/1:-396.063,0,-328.318:377:173:197:5891:5273 0/1:-460.261,0,-442.657:438:205:226:6973:6804 0/1:-511.699,0,-580.783:512:262:244:7794:8563 0/1:-344.407,0,-384.193:362:180:177:5376:5740 0/1:-364.7,0,-372.378:342:170:168:5406:5521 0/1:-440.597,0,-536.33:469:242:222:6867:7969 1/1:-1667.65,-170.909,0:638:7:621:19751:237 1/1:-1334.07,-127.65,0:527:11:506:15828:346 0/1:-310.365,0,-466.781:369:204:158:4902:6752 1/1:-1273.11,-139.763,0:486:2:477:14970:50 1/1:-1258.89,-135.976,0:483:5:471:14847:110 . . 0/1:-478.474,0,-587.293:510:265:240:7486:8551 0/1:-303.895,0,-304.735:287:136:147:4656:4555 . 1/1:-1053.79,-109.668,0:431:7:415:12760:220 0/1:-449.56,0,-467.087:432:213:215:6786:7062 0/1:-517.833,0,-548.155:515:251:258:7852:8134 0/1:-736.895,0,-689.511:673:309:354:10984:10246 1/1:-1232.46,-117.907,0:473:8:458:14733:253 . 0/1:-355.336,0,-299.131:312:141:165:5212:4629 . . 0/1:-482.97,0,-428.754:423:199:218:7017:6487 . . 0/1:-536.926,0,-538.229:511:249:257:8117:8040 1/1:-903.045,-94.2894,0:377:6:363:11014:190 0/1:-384.681,0,-325.853:331:148:178:5589:4891 . 0/1:-287.704,0,-273:280:129:144:4300:4240 . 0/1:-451.471,0,-404.756:410:192:212:6603:6179 0/1:-277.31,0,-354.708:317:157:147:4433:5209 0/1:-475.01,0,-596.684:512:271:235:7497:8753 0/1:-440.148,0,-461:424:208:211:6699:6810 . 0/1:-573.259,0,-598.369:559:271:278:8698:8933 . . . . . 0/1:-472.095,0,-468.648:446:214:228:7170:7010 . 0/1:-539.887,0,-732.479:589:319:263:8314:10561 0/1:-257.375,0,-301.952:291:154:135:4178:4664 . . 0/1:-456.772,0,-615.088:507:276:223:7225:9001 . . 0/1:-222.431,0,-315.24:255:140:112:3449:4634 . . 0/1:-551.397,0,-496.43:510:233:268:8298:7619 0/1:-563.836,0,-501.429:508:234:270:8475:7722 0/1:-457.436,0,-479.75:459:225:226:6938:7217 . . . . . . 0/1:-380.714,0,-532.175:427:235:189:5922:7732 . 0/1:-513.165,0,-517.873:479:231:240:7622:7708 0/1:-582.257,0,-616.888:572:284:277:8755:9340 . 1/1:-1093.18,-103.282,0:424:7:406:12861:239:7,406 0/1:-511.675,0,-455.36:457:215:234:7435:6924:215,234 . 0/1:-246.792,0,-265.739:242:118:119:3682:3908:118,119 . 0/1:-631.257,0,-530.974:555:254:292:9183:8024:254,292 1/1:-1193.29,-116.702,0:463:8:446:13992:247:8,446 1/1:-1247.56,-117.842,0:502:11:479:14863:370:11,479 0/1:-447.211,0,-496.5:439:221:208:6695:7224:221,208 1/1:-1042.14,-100.429,0:411:9:396:12235:250:9,396 . . . 1/1:-1165.02,-119.374,0:448:5:432:13517:156:5,432 1/1:-1133.02,-113.331,0:445:7:427:13299:208:7,427 . 0/1:-533.286,0,-593.696:531:270:252:7983:8819:270,252 . 0/1:-500.468,0,-524.057:488:243:239:7534:7777:243,239 . chr9 71650692 . G A 2147.64 . AB=0.540146;ABP=4.92817;AC=4;AF=0.5;AN=8;AO=74;CIGAR=1X;DP=1487;DPB=137;DPRA=0;EPP=5.94472;EPPR=3.6537;GTI=0;LEN=1;MEANALT=2;MQM=31.2432;MQMR=28.6852;NS=1;NUMALT=1;ODDS=154.413;PAIRED=0.797297;PAIREDR=0.703704;PAO=0;PQA=0;PQR=0;PRO=0;QA=2040;QR=1754;RO=54;RPL=43;RPP=7.23587;RPPR=4.45795;RPR=31;RUN=1;SAF=23;SAP=26.0162;SAR=51;SF=0,1;SRF=19;SRP=13.3047;SRR=35;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=FXN;GeneDetail.refGene=NM_001161706:c.-7G>A,NM_000144:c.-7G>A,NM_181425:c.-7G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00758786;avsnp147=rs145006100;Kaviar_AF=0.0045601;Kaviar_AC=705;Kaviar_AN=154602;ExAC_ALL=0.0109;ExAC_AFR=0.0172;ExAC_AMR=0.0122;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0.0265;ExAC_OTH=0.0217;ExAC_SAS=0.0056;CLNALLELEID=190215;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0196;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0182;gnomAD_exome_ASJ=0.0225;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0135;gnomAD_exome_NFE=0.0325;gnomAD_exome_OTH=0.0201;gnomAD_exome_SAS=0.0050;gnomAD_genome_ALL=0.0185;gnomAD_genome_AFR=0.0055;gnomAD_genome_AMR=0.0132;gnomAD_genome_ASJ=0.02;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0141;gnomAD_genome_NFE=0.0291;gnomAD_genome_OTH=0.0215;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-119.507,0,-74.3202:137:54:74:2040:1754 . . . . . . . . 0/1:-158.663,0,-118.366:173:73:94:2733:2288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-657.478,0,-514.868:576:251:321:10020:8075:251,321 . . . . . . . . . . . . . . 0/1:-616.432,0,-588.866:601:283:309:9547:9009:283,309 . . . chr9 71650711 . G A 6188.89 . AB=0.568384;ABP=25.8783;AC=1;AF=0.5;AN=2;AO=320;CIGAR=1X;DP=563;DPB=563;DPRA=0;EPP=14.9805;EPPR=13.073;GTI=0;LEN=1;MEANALT=3;MQM=37.4281;MQMR=38.2043;NS=1;NUMALT=1;ODDS=1052.37;PAIRED=0.884375;PAIREDR=0.846809;PAO=0;PQA=0;PQR=0;PRO=0;QA=9728;QR=7753;RO=235;RPL=171;RPP=6.29465;RPPR=11.8902;RPR=149;RUN=1;SAF=146;SAP=8.33041;SAR=174;SF=1;SRF=110;SRP=5.08937;SRR=125;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FXN:NM_000144:exon1:c.G13A:p.G5R,FXN:NM_001161706:exon1:c.G13A:p.G5R,FXN:NM_181425:exon1:c.G13A:p.G5R;cytoBand=9q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.261;SIFT_pred=T;Polyphen2_HDIV_score=0.61;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.047;Polyphen2_HVAR_pred=B;LRT_score=0.522;LRT_pred=U;MutationTaster_score=0.891;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-3.41;FATHMM_pred=D;PROVEAN_score=-1.32;PROVEAN_pred=N;VEST3_score=0.43;CADD_raw=2.084;CADD_phred=16.75;DANN_score=0.958;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.163;MetaSVM_pred=T;MetaLR_score=0.629;MetaLR_pred=D;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=1.85;phyloP7way_vertebrate=0.373;phyloP20way_mammalian=-0.141;phastCons7way_vertebrate=0.257;phastCons20way_mammalian=0.053;SiPhy_29way_logOdds=5.673;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-631.301,0,-469.293:563:235:320:9728:7753:235,320 chr9 71650752 . A G 6112.01 . AB=0;ABP=0;AC=230;AF=1;AN=230;AO=214;CIGAR=1X;DP=34542;DPB=226;DPRA=0;EPP=4.02501;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=28.7991;MQMR=8;NS=1;NUMALT=1;ODDS=296.283;PAIRED=0.752336;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6127;QR=14;RO=1;RPL=161;RPP=121.366;RPPR=5.18177;RPR=53;RUN=1;SAF=67;SAP=67.9515;SAR=147;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FXN:NM_000144:exon1:c.A54G:p.P18P,FXN:NM_001161706:exon1:c.A54G:p.P18P,FXN:NM_181425:exon1:c.A54G:p.P18P;cytoBand=9q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.984824;avsnp147=rs2481598;Kaviar_AF=0.273865;Kaviar_AC=42340;Kaviar_AN=154602;ExAC_ALL=0.9993;ExAC_AFR=0.9714;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9999;CLNALLELEID=134566;CLNDN=Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9979;gnomAD_exome_AFR=0.9399;gnomAD_exome_AMR=0.9972;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9967;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9867;gnomAD_genome_AFR=0.9532;gnomAD_genome_AMR=0.9988;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 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1/1:-1398.21,-150.363,0:553:4:534:16573:131:4,534 0/1:-573.579,0,-672.547:589:312:269:8587:9844:312,269 1/1:-1694.54,-174.728,0:667:8:650:20113:265:8,650 1/1:-819.31,-90.2493,0:341:3:322:9794:85:3,322 0/1:-520.69,0,-542.886:536:262:263:8197:8167:262,263 0/1:-646.995,0,-694.118:670:331:330:9953:10370:331,330 0/1:-480.855,0,-679.952:570:311:246:7654:9838:311,246 1/1:-1457.29,-151.761,0:585:6:561:17367:216:6,561 0/1:-607.114,0,-588.032:592:277:302:9212:8747:277,302 1/1:-1293.9,-141.223,0:525:5:506:15349:167:5,506 0/1:-585.419,0,-678.911:617:320:285:9002:10050:320,285 0/1:-459.95,0,-527.022:487:245:233:7151:7783:245,233 0/1:-567.574,0,-499.214:528:248:270:8434:7673:248,270 1/1:-1451.31,-143.146,0:564:9:550:17135:289:9,550 1/1:-1252.24,-132.425,0:511:8:496:15071:218:8,496 1/1:-1334.04,-132.888,0:541:10:524:16084:341:10,524 0/1:-750.022,0,-744.535:731:359:362:11254:11193:359,362 . . 0/1:-444.688,0,-591.632:507:273:223:6964:8649:273,223 chr9 71679993 . A G 8781.99 . AB=0.485774;ABP=4.67838;AC=1;AF=0.5;AN=2;AO=461;CIGAR=1X;DP=949;DPB=949;DPRA=0;EPP=65.3047;EPPR=48.822;GTI=0;LEN=1;MEANALT=3;MQM=39.9805;MQMR=41.1751;NS=1;NUMALT=1;ODDS=2022.13;PAIRED=0.97397;PAIREDR=0.957806;PAO=0;PQA=0;PQR=0;PRO=0;QA=13680;QR=14791;RO=474;RPL=285;RPP=58.974;RPPR=35.335;RPR=176;RUN=1;SAF=188;SAP=37.0426;SAR=273;SF=1;SRF=198;SRP=30.8821;SRR=276;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9q21.11;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00998403;avsnp147=rs59415831;Kaviar_AF=0.0027231;Kaviar_AC=421;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0273;ExAC_AMR=0.0032;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0035;ExAC_SAS=6.238e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0111;dpsi_zscore=0.076;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0301;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=6.548e-05;gnomAD_genome_ALL=0.0095;gnomAD_genome_AFR=0.0332;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9q21.11;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00998403;avsnp147=rs59415831;Kaviar_AF=0.0027231;Kaviar_AC=421;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0273;ExAC_AMR=0.0032;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0035;ExAC_SAS=6.238e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0111;dpsi_zscore=0.076;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0301;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=6.548e-05;gnomAD_genome_ALL=0.0095;gnomAD_genome_AFR=0.0332;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-900.602,0,-1006.32:949:474:461:13680:14791:474,461 . chr9 71714764 . T C 7842.75 . AB=0.450128;ABP=28.3515;AC=3;AF=0.5;AN=6;AO=528;CIGAR=1X;DP=3090;DPB=1173;DPRA=0;EPP=95.5446;EPPR=45.2237;GTI=0;LEN=1;MEANALT=3;MQM=37.0739;MQMR=37.4067;NS=1;NUMALT=1;ODDS=1950.65;PAIRED=0.977273;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=14418;QR=17591;RO=600;RPL=225;RPP=28.0316;RPPR=12.0581;RPR=303;RUN=1;SAF=276;SAP=5.37918;SAR=252;SF=0,1;SRF=335;SRP=20.744;SRR=265;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs371159899;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-868.264,0,-1113.64:1173:600:528:14418:17591 . . . . . . . 0/1:-641.054,0,-864.999:858:453:379:10630:13362 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1029.88,0,-1102.72:1059:528:511:15421:16521:528,511 . . . . . chr9 103348208 . A T 5909.41 . AB=0.487134;ABP=4.63072;AC=6;AF=0.5;AN=12;AO=549;CIGAR=1X;DP=4061;DPB=1127;DPRA=0;EPP=3.20411;EPPR=5.4209;GTI=0;LEN=1;MEANALT=3;MQM=38.2095;MQMR=38.9414;NS=1;NUMALT=1;ODDS=2177.86;PAIRED=0.965392;PAIREDR=0.973357;PAO=0;PQA=0;PQR=0;PRO=0;QA=15825;QR=17115;RO=563;RPL=115;RPP=405.508;RPPR=234.525;RPR=434;RUN=1;SAF=320;SAP=35.7643;SAR=229;SF=0;SRF=350;SRP=75.4017;SRR=213;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MURC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MURC:NM_001018116:exon2:c.A570T:p.S190S;cytoBand=9q31.1;genomicSuperDups=.;esp6500siv2_all=0.0337;esp6500siv2_ea=0.0236;esp6500siv2_all=0.0337;esp6500siv2_ea=0.0236;1000g2015aug_all=0.117812;avsnp147=rs28623148;Kaviar_AF=0.0598957;Kaviar_AC=9260;Kaviar_AN=154602;ExAC_ALL=0.0640;ExAC_AFR=0.0557;ExAC_AMR=0.0340;ExAC_EAS=0.2183;ExAC_FIN=0.0144;ExAC_NFE=0.0238;ExAC_OTH=0.0540;ExAC_SAS=0.1921;CLNALLELEID=229638;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0603;gnomAD_exome_AFR=0.0548;gnomAD_exome_AMR=0.0337;gnomAD_exome_ASJ=0.0228;gnomAD_exome_EAS=0.2143;gnomAD_exome_FIN=0.0110;gnomAD_exome_NFE=0.0238;gnomAD_exome_OTH=0.0403;gnomAD_exome_SAS=0.1886;gnomAD_genome_ALL=0.0401;gnomAD_genome_AFR=0.0522;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.2103;gnomAD_genome_FIN=0.0109;gnomAD_genome_NFE=0.0218;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1000,0,-1111.34:1127:563:549:15825:17115 . . . . 0/1:-381.25,0,-378.637:417:200:210:5951:6036 . . . . . . . 0/1:-566.895,0,-625.123:641:331:303:8923:9817 . . . . . . . . . . . . 0/1:-711.087,0,-669.072:733:351:377:10873:10485 . . . . . . . . . . . . . . . . . . . . . . 0/1:-352.122,0,-367.824:381:186:188:5518:5643 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-731.061,0,-692.691:762:362:388:11224:10744 . . . . . . . . . . . . . . . . . . . . . . . chr9 103348319 . C T 7523.90 . AB=0.484315;ABP=5.80314;AC=2;AF=0.5;AN=4;AO=633;CIGAR=1X;DP=1706;DPB=1307;DPRA=0;EPP=31.4178;EPPR=14.1373;GTI=0;LEN=1;MEANALT=3;MQM=37.2385;MQMR=38.0964;NS=1;NUMALT=1;ODDS=2487.68;PAIRED=0.947867;PAIREDR=0.947712;PAO=0;PQA=0;PQR=0;PRO=0;QA=18615;QR=17589;RO=612;RPL=404;RPP=108.068;RPPR=80.7291;RPR=229;RUN=1;SAF=278;SAP=23.3494;SAR=355;SF=0;SRF=248;SRP=50.7543;SRR=364;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MURC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MURC:NM_001018116:exon2:c.C681T:p.T227T;cytoBand=9q31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs761072559;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.239e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.066e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.977e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-1164.22,0,-1102.33:1307:612:633:18615:17589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-377.647,0,-292.402:399:173:210:5941:5051 . . . . . . . . . . . . . . . . . . . . . . . . . . . chr9 103348352 . A C 4962.85 . AB=0.470229;ABP=8.05276;AC=1;AF=0.5;AN=2;AO=308;CIGAR=1X;DP=655;DPB=655;DPRA=0;EPP=4.81516;EPPR=30.668;GTI=0;LEN=1;MEANALT=3;MQM=35.7208;MQMR=37.3947;NS=1;NUMALT=1;ODDS=1142.74;PAIRED=0.948052;PAIREDR=0.921053;PAO=0;PQA=0;PQR=0;PRO=0;QA=8717;QR=10316;RO=342;RPL=135;RPP=13.1908;RPPR=69.0688;RPR=173;RUN=1;SAF=147;SAP=4.39215;SAR=161;SF=0;SRF=154;SRP=10.3501;SRR=188;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MURC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MURC:NM_001018116:exon2:c.A714C:p.G238G;cytoBand=9q31.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs146549670;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=3.321e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.059e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=502828;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.859e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.33e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-505.539,0,-653.499:655:342:308:8717:10316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr9 103348609 . C G 4031.63 . AB=0.457926;ABP=10.8675;AC=1;AF=0.5;AN=2;AO=234;CIGAR=1X;DP=511;DPB=511;DPRA=0;EPP=26.2098;EPPR=11.6723;GTI=0;LEN=1;MEANALT=3;MQM=36.9359;MQMR=37.1832;NS=1;NUMALT=1;ODDS=928.316;PAIRED=0.970085;PAIREDR=0.974359;PAO=0;PQA=0;PQR=0;PRO=0;QA=6961;QR=8185;RO=273;RPL=75;RPP=68.4885;RPPR=25.3534;RPR=159;RUN=1;SAF=153;SAP=51.1168;SAR=81;SF=0;SRF=163;SRP=25.3534;SRR=110;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MURC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MURC:NM_001018116:exon2:c.C971G:p.P324R;cytoBand=9q31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs147742000;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=6.61e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.437;SIFT_pred=T;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_pred=B;LRT_score=0.058;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.04;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_pred=N;VEST3_score=0.071;CADD_raw=-0.366;CADD_phred=0.467;DANN_score=0.365;fathmm-MKL_coding_score=0.020;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.070;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=-6.13;phyloP7way_vertebrate=-3.132;phyloP20way_mammalian=-1.803;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=0.644;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.941e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.585e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-424.976,0,-514.244:511:273:234:6961:8185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr9 103348634 . G A 5450.64 . AB=0.451499;ABP=14.5953;AC=66;AF=0.5;AN=112;AO=256;CIGAR=1X;DP=28199;DPB=567;DPRA=0;EPP=17.9731;EPPR=16.1284;GTI=0;LEN=1;MEANALT=3;MQM=38.1641;MQMR=38.3973;NS=1;NUMALT=1;ODDS=982.072;PAIRED=0.984375;PAIREDR=0.965753;PAO=0;PQA=0;PQR=0;PRO=0;QA=7448;QR=8529;RO=292;RPL=59;RPP=164.547;RPPR=170.333;RPR=197;RUN=1;SAF=182;SAP=101.948;SAR=74;SF=0,1;SRF=194;SRP=71.5455;SRR=98;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MURC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MURC:NM_001018116:exon2:c.G996A:p.R332R;cytoBand=9q31.1;genomicSuperDups=.;esp6500siv2_all=0.3795;esp6500siv2_ea=0.4166;esp6500siv2_all=0.3795;esp6500siv2_ea=0.4166;1000g2015aug_all=0.293331;avsnp147=rs2780956;Kaviar_AF=0.370396;Kaviar_AC=57264;Kaviar_AN=154602;ExAC_ALL=0.3712;ExAC_AFR=0.2874;ExAC_AMR=0.5198;ExAC_EAS=0.0835;ExAC_FIN=0.4171;ExAC_NFE=0.4040;ExAC_OTH=0.3576;ExAC_SAS=0.3193;CLNALLELEID=229643;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3799;gnomAD_exome_AFR=0.2784;gnomAD_exome_AMR=0.5175;gnomAD_exome_ASJ=0.4230;gnomAD_exome_EAS=0.0863;gnomAD_exome_FIN=0.4037;gnomAD_exome_NFE=0.4052;gnomAD_exome_OTH=0.3800;gnomAD_exome_SAS=0.3218;gnomAD_genome_ALL=0.3665;gnomAD_genome_AFR=0.2808;gnomAD_genome_AMR=0.4892;gnomAD_genome_ASJ=0.4167;gnomAD_genome_EAS=0.1045;gnomAD_genome_FIN=0.3941;gnomAD_genome_NFE=0.4264;gnomAD_genome_OTH=0.4258;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-463.032,0,-552.497:567:292:256:7448:8529 0/1:-362.015,0,-371.524:397:192:192:5526:5772 0/1:-396.231,0,-648.515:585:325:237:6760:9657 . 0/1:-376.876,0,-546.749:497:263:216:6108:8118 1/1:-1366.95,-136.495,0:631:21:588:16637:620 0/1:-591.138,0,-379.675:535:214:301:8802:6371 1/1:-1488.23,-170.229,0:632:7:611:17594:178 0/1:-549.238,0,-491.679:585:273:295:8548:7785 0/1:-497.942,0,-588.087:595:295:280:7863:8917 . . . 0/1:-641.015,0,-757.248:775:386:368:10181:11512 0/1:-441.656,0,-349.85:438:196:233:6600:5709 0/1:-1033.37,0,-1061.72:1150:556:556:15806:16445 . . . 1/1:-1529.99,-170.877,0:657:8:621:18225:218 . 1/1:-1553.74,-176.443,0:688:13:656:18628:302 1/1:-1408.04,-157.906,0:641:13:609:17265:334 . 1/1:-1236.53,-128.064,0:555:16:523:14901:386 0/1:-416.705,0,-584.981:553:292:240:6857:8740 1/1:-1048.05,-131.55,0:449:0:437:12401:0 0/1:-370.765,0,-367.187:406:191:195:5614:5695 . 0/1:-706.666,0,-813.048:838:412:404:11263:12424 . . 0/1:-601.442,0,-620.662:637:311:310:9197:9432 . 0/1:-249.423,0,-276.441:309:155:142:3968:4430 . 0/1:-503.505,0,-511.159:567:266:280:7788:7930 . . . . 0/1:-507.592,0,-567.853:585:288:280:7987:8662 . . 0/1:-470.64,0,-474.674:528:251:264:7451:7454 . 0/1:-401.045,0,-465.69:469:230:227:6409:7020 . . 0/1:-490.547,0,-541.737:603:292:289:8050:8671 . . 0/1:-292.158,0,-473.967:448:242:188:5155:7060 0/1:-403.644,0,-440.937:462:231:219:6374:6879 0/1:-559.155,0,-625.95:656:321:313:8765:9642 0/1:-255.454,0,-312.038:333:169:154:4190:4913 0/1:-280.995,0,-429.927:425:220:185:4761:6466 . . . . . . . 0/1:-297.57,0,-350.202:383:191:180:4897:5549 0/1:-490.434,0,-545.325:575:277:275:7640:8319 0/1:-440.76,0,-307.511:432:176:242:6785:5139 . . . 0/1:-517.263,0,-781.786:691:374:295:8634:11348 . . . 1/1:-1717.42,-205.171,0:747:7:730:20274:200 0/1:-559.999,0,-603.322:645:312:309:8754:9460 0/1:-379.373,0,-343.953:392:181:202:5813:5447 . . 0/1:-547.968,0,-616.902:681:342:319:8789:9765 0/1:-514.081,0,-621.764:623:317:289:8284:9574 0/1:-527.476,0,-555.43:602:283:293:8317:8537 . 1/1:-1150.26,-121.728,0:510:11:484:14018:346 0/1:-408.2,0,-428.623:454:216:221:6323:6685 . 0/1:-321.17,0,-302.658:331:155:167:4892:4712 . 0/1:-798.073,0,-652.951:762:333:409:12104:10197 . 0/1:-629.711,0,-569.416:668:302:333:9559:8961 . . . 0/1:-179.138,0,-210.254:195:105:82:2695:3124:105,82 . . 0/1:-95.4705,0,-77.5781:96:42:49:1436:1206:42,49 . 0/1:-209.551,0,-179.177:205:93:104:3103:2748:93,104 0/1:-176.778,0,-174.921:176:84:89:2715:2606:84,89 . . . 0/1:-219.51,0,-131.11:183:73:105:3272:2149:73,105 . 0/1:-140.886,0,-143.467:147:72:70:2214:2160:72,70 . . . 0/1:-184.864,0,-222.824:210:110:93:2889:3274:110,93 0/1:-200.719,0,-124.056:165:67:91:2867:1981:67,91 1/1:-327.358,-29.2649,0:130:3:125:3875:104:3,125 . chr9 108363420 . A G 4238.13 . AB=0.444272;ABP=20.4359;AC=7;AF=0.5;AN=14;AO=287;CIGAR=1X;DP=3616;DPB=646;DPRA=0;EPP=65.6652;EPPR=45.8735;GTI=0;LEN=1;MEANALT=2;MQM=40.0941;MQMR=40.51;NS=1;NUMALT=1;ODDS=1030.73;PAIRED=0.979094;PAIREDR=0.988539;PAO=0;PQA=0;PQR=0;PRO=0;QA=7772;QR=10651;RO=349;RPL=149;RPP=3.9258;RPPR=3.76316;RPR=138;RUN=1;SAF=223;SAP=194.289;SAR=64;SF=0,1;SRF=262;SRP=193.559;SRR=87;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0087;esp6500siv2_ea=0.0122;esp6500siv2_all=0.0087;esp6500siv2_ea=0.0122;1000g2015aug_all=0.00499201;avsnp147=rs41277795;Kaviar_AF=0.0110865;Kaviar_AC=1714;Kaviar_AN=154602;ExAC_ALL=0.0168;ExAC_AFR=0.0016;ExAC_AMR=0.0103;ExAC_EAS=0.0002;ExAC_FIN=0.0111;ExAC_NFE=0.0202;ExAC_OTH=0.0152;ExAC_SAS=0.0286;CLNALLELEID=44804;CLNDN=Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3387;dpsi_zscore=-0.908;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0114;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0185;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0087;gnomAD_exome_NFE=0.0125;gnomAD_exome_OTH=0.0105;gnomAD_exome_SAS=0.0244;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0083;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-483.049,0,-729.921:646:349:287:7772:10651 0/1:-736.723,0,-992.217:909:479:415:11442:14536 . . . 0/1:-398.899,0,-540.73:503:261:233:6210:7943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-356.177,0,-461.248:445:229:205:5528:6803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-605.675,0,-814.176:740:392:336:9391:11849 . . . . . . . . . . 0/1:-146.055,0,-218.042:180:97:81:2316:3127:97,81 . . 0/1:-195.025,0,-189.617:193:91:100:2899:2902:91,100 . . . . . . . . . . . . chr9 108363426 . C T 5828.00 . AB=0.503817;ABP=3.10976;AC=6;AF=0.5;AN=12;AO=396;CIGAR=1X;DP=2709;DPB=786;DPRA=0;EPP=19.0002;EPPR=21.515;GTI=0;LEN=1;MEANALT=2;MQM=40.904;MQMR=41.4185;NS=1;NUMALT=1;ODDS=1591.1;PAIRED=1;PAIREDR=0.997283;PAO=0;PQA=0;PQR=0;PRO=0;QA=11975;QR=10868;RO=368;RPL=165;RPP=26.8965;RPPR=9.83156;RPR=231;RUN=1;SAF=294;SAP=205.155;SAR=102;SF=0,1;SRF=277;SRP=207.152;SRR=91;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon4:c.C166T:p.R56C,FKTN:NM_001079802:exon5:c.C166T:p.R56C,FKTN:NM_001198963:exon5:c.C166T:p.R56C;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0206;esp6500siv2_ea=0.0283;esp6500siv2_all=0.0206;esp6500siv2_ea=0.0283;1000g2015aug_all=0.0103834;avsnp147=rs41277797;Kaviar_AF=0.0183503;Kaviar_AC=2837;Kaviar_AN=154602;ExAC_ALL=0.0235;ExAC_AFR=0.0053;ExAC_AMR=0.0157;ExAC_EAS=0;ExAC_FIN=0.0371;ExAC_NFE=0.0368;ExAC_OTH=0.0229;ExAC_SAS=0.0027;CLNALLELEID=99422;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.052;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.917;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=-1.64;FATHMM_pred=D;PROVEAN_score=-1.96;PROVEAN_pred=N;VEST3_score=0.502;CADD_raw=5.704;CADD_phred=26.8;DANN_score=0.999;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_pred=D;MetaSVM_score=0.176;MetaSVM_pred=D;MetaLR_score=0.549;MetaLR_pred=D;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.65;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.651;GDI_full_10282015=.;dpsi_max_tissue=-0.1697;dpsi_zscore=-0.625;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0192;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0157;gnomAD_exome_ASJ=0.0169;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0314;gnomAD_exome_NFE=0.0273;gnomAD_exome_OTH=0.0233;gnomAD_exome_SAS=0.0032;gnomAD_genome_ALL=0.0182;gnomAD_genome_AFR=0.0050;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0310;gnomAD_genome_NFE=0.0245;gnomAD_genome_OTH=0.0245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . 0/1:-811.52,0,-722.77:786:368:396:11975:10868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-539.972,0,-620.173:618:320:290:8328:9147 . . . . . . . . . . . . . . . . . . . . . . 0/1:-750.201,0,-746.525:781:387:375:11189:11195 . . . . . . . . . . . . . . . . 0/1:-133.343,0,-148.818:139:71:65:2003:2199:71,65 . . . . . . . . . . . . 0/1:-270.965,0,-182.482:215:88:123:3890:2821:88,123 . . 0/1:-176.68,0,-186.338:170:87:81:2607:2701:87,81 chr9 108366499 . G A 1383.71 . AB=0.467066;ABP=4.58364;AC=4;AF=0.5;AN=8;AO=78;CIGAR=1X;DP=721;DPB=167;DPRA=0;EPP=52.119;EPPR=20.9117;GTI=0;LEN=1;MEANALT=2;MQM=39.7308;MQMR=39.8049;NS=1;NUMALT=1;ODDS=266.698;PAIRED=0.948718;PAIREDR=0.987805;PAO=0;PQA=0;PQR=0;PRO=0;QA=2074;QR=2384;RO=82;RPL=22;RPP=35.1926;RPPR=59.0449;RPR=56;RUN=1;SAF=40;SAP=3.12166;SAR=38;SF=0,1;SRF=46;SRP=5.65844;SRR=36;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon5:c.G373A:p.G125S,FKTN:NM_001079802:exon6:c.G373A:p.G125S,FKTN:NM_001198963:exon6:c.G373A:p.G125S;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0114;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0114;1000g2015aug_all=0.0371406;avsnp147=rs34006675;Kaviar_AF=0.015569;Kaviar_AC=2407;Kaviar_AN=154602;ExAC_ALL=0.0153;ExAC_AFR=0.0918;ExAC_AMR=0.0087;ExAC_EAS=0;ExAC_FIN=0.0060;ExAC_NFE=0.0106;ExAC_OTH=0.0110;ExAC_SAS=0.0028;CLNALLELEID=18250;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.362;SIFT_pred=T;Polyphen2_HDIV_score=0.944;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.572;Polyphen2_HVAR_pred=P;LRT_score=0.185;LRT_pred=N;MutationTaster_score=0.559;MutationTaster_pred=N;MutationAssessor_score=1.265;MutationAssessor_pred=L;FATHMM_score=-1.45;FATHMM_pred=T;PROVEAN_score=0.11;PROVEAN_pred=N;VEST3_score=0.348;CADD_raw=1.784;CADD_phred=14.89;DANN_score=0.996;fathmm-MKL_coding_score=0.772;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.852;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=1.71;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.405;GDI_full_10282015=.;dpsi_max_tissue=0.0492;dpsi_zscore=0.294;hgmdCODING=HGMD::Walker-Warburg_syndrome#18177472;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM080364#"Walker-Warburg_syndrome";gnomAD_exome_ALL=0.0137;gnomAD_exome_AFR=0.0914;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0062;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0070;gnomAD_exome_NFE=0.0110;gnomAD_exome_OTH=0.0133;gnomAD_exome_SAS=0.0028;gnomAD_genome_ALL=0.0324;gnomAD_genome_AFR=0.0888;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0100;gnomAD_genome_NFE=0.0108;gnomAD_genome_OTH=0.0164;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-130.586,0,-157.773:167:82:78:2074:2384 . . . . . . 0/1:-167.849,0,-171.542:193:91:96:2672:2696 0/1:-211.327,0,-252.83:279:141:127:3332:3937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-73.1126,0,-99.3271:82:46:36:1117:1441:46,36 . . . . . . . . . . . . . . . chr9 108366734 . G A 1446.39 . AB=0.541667;ABP=5.54368;AC=51;AF=0.5;AN=92;AO=91;CIGAR=1X;DP=6536;DPB=168;DPRA=0;EPP=3.22506;EPPR=4.03889;GTI=0;LEN=1;MEANALT=2;MQM=40.967;MQMR=40.1053;NS=1;NUMALT=1;ODDS=291.735;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2878;QR=2326;RO=76;RPL=56;RPP=13.5336;RPPR=8.61041;RPR=35;RUN=1;SAF=9;SAP=130.173;SAR=82;SF=0,1;SRF=4;SRP=135.127;SRR=72;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon5:c.G608A:p.R203Q,FKTN:NM_001079802:exon6:c.G608A:p.R203Q,FKTN:NM_001198963:exon6:c.G608A:p.R203Q;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.2646;esp6500siv2_ea=0.3190;esp6500siv2_all=0.2646;esp6500siv2_ea=0.3190;1000g2015aug_all=0.158147;avsnp147=rs34787999;Kaviar_AF=0.248975;Kaviar_AC=38492;Kaviar_AN=154602;ExAC_ALL=0.2446;ExAC_AFR=0.1630;ExAC_AMR=0.2684;ExAC_EAS=0.0950;ExAC_FIN=0.2919;ExAC_NFE=0.3053;ExAC_OTH=0.2318;ExAC_SAS=0.0942;CLNALLELEID=99427;CLNDN=Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.207;SIFT_pred=T;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.197;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.078;MutationTaster_pred=P;MutationAssessor_score=2.075;MutationAssessor_pred=M;FATHMM_score=-1.63;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=3.672;CADD_phred=23.3;DANN_score=0.999;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.150;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.36;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=11.545;GDI_full_10282015=.;dpsi_max_tissue=-0.0696;dpsi_zscore=-0.346;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2488;gnomAD_exome_AFR=0.1573;gnomAD_exome_AMR=0.2773;gnomAD_exome_ASJ=0.2850;gnomAD_exome_EAS=0.0930;gnomAD_exome_FIN=0.2810;gnomAD_exome_NFE=0.3085;gnomAD_exome_OTH=0.2698;gnomAD_exome_SAS=0.0964;gnomAD_genome_ALL=0.2571;gnomAD_genome_AFR=0.1606;gnomAD_genome_AMR=0.2770;gnomAD_genome_ASJ=0.2752;gnomAD_genome_EAS=0.0958;gnomAD_genome_FIN=0.2776;gnomAD_genome_NFE=0.3229;gnomAD_genome_OTH=0.2811;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-201.44,0,-149.008:168:76:91:2878:2326 . . . 0/1:-115.888,0,-123.516:121:65:56:1756:1901 . 1/1:-378.557,-39.4577,0:140:1:139:4448:27 . . . 0/1:-135.612,0,-126.664:131:61:69:2056:1920 . 0/1:-120.261,0,-147.222:139:74:64:1882:2228 . . . . . . . 0/1:-125.814,0,-134.774:134:67:64:1933:2036 0/1:-205.108,0,-158.723:185:81:102:3099:2508 . . 1/1:-397.132,-42.1979,0:152:1:150:4752:36 0/1:-106.951,0,-118.642:122:66:55:1683:1817 . . . . . . . 0/1:-143.951,0,-130.345:137:66:68:2162:2026 0/1:-127.6,0,-164.608:139:74:64:2010:2393 0/1:-159.448,0,-197.698:186:97:88:2572:2940 . . 0/1:-113.465,0,-165.563:148:84:64:1893:2489 0/1:-74.1702,0,-111.965:94:53:41:1226:1659 . . . . 0/1:-235.515,0,-241.457:247:122:123:3627:3670 0/1:-153.785,0,-173.528:167:88:78:2377:2663 0/1:-107.486,0,-139.909:143:76:64:1712:2175 1/1:-272.125,-28.0953,0:105:1:103:3305:36 . . 0/1:-188.419,0,-145.519:167:75:90:2794:2264 0/1:-208.442,0,-106.924:159:61:98:3048:1840 0/1:-188.907,0,-259.119:230:126:99:3043:3841 0/1:-247.73,0,-163.185:209:89:120:3667:2617 0/1:-100.804,0,-107.437:109:56:53:1672:1669 . . 0/1:-121.058,0,-78.5022:102:44:57:1815:1263 . . 0/1:-90.1283,0,-94.2343:103:54:48:1446:1509 1/1:-525.918,-57.0003,0:208:3:203:6172:67 0/1:-128.357,0,-131.3:133:70:62:1914:2041 . 0/1:-239.564,0,-178.914:207:91:114:3520:2855 0/1:-165.409,0,-199.433:176:94:81:2581:2903 . . 0/1:-119.752,0,-121.532:117:59:57:1810:1813 . 0/1:-107.494,0,-129.871:121:66:55:1680:1931 0/1:-180.498,0,-210.28:199:110:89:2782:3257 . . 0/1:-106.493,0,-122.251:125:60:61:1736:1856 . . . . 0/1:-95.7706,0,-97.6873:97:49:48:1477:1435 0/1:-159.239,0,-181.484:171:89:81:2446:2736 . . . 1/1:-298.719,-26.9661,0:124:4:118:3634:109 0/1:-137.902,0,-93.8587:112:48:64:1981:1505 0/1:-185.225,0,-121.303:155:67:87:2752:2007 . . . . . . . 0/1:-188.715,0,-170.646:177:87:88:2791:2655 . 0/1:-93.1927,0,-138.607:110:63:46:1455:1980:63,46 . . 0/1:-40.2022,0,-94.9496:65:42:23:680:1298:42,23 . . . . 0/1:-137.29,0,-56.4738:97:34:61:1940:960:34,61 . 0/1:-134.28,0,-89.0443:103:43:60:1882:1392:43,60 0/1:-118.241,0,-79.5278:94:39:54:1668:1245:39,54 . . . . . 0/1:-109.83,0,-119.452:113:59:52:1652:1807:59,52 0/1:-120.294,0,-86.1596:95:43:52:1697:1326:43,52 . chr9 108377702 . G A 9928.77 . AB=0.492395;ABP=3.53872;AC=7;AF=0.5;AN=14;AO=518;CIGAR=1X;DP=8379;DPB=1052;DPRA=0;EPP=317.731;EPPR=304.274;GTI=0;LEN=1;MEANALT=3;MQM=40.1583;MQMR=40.8549;NS=1;NUMALT=1;ODDS=2136.24;PAIRED=0.994208;PAIREDR=0.986275;PAO=0;PQA=0;PQR=0;PRO=0;QA=14739;QR=14620;RO=510;RPL=279;RPP=9.71755;RPPR=3.0103;RPR=239;RUN=1;SAF=243;SAP=7.30294;SAR=275;SF=0,1;SRF=227;SRP=16.3627;SRR=283;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0089;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0089;esp6500siv2_ea=0.0124;1000g2015aug_all=0.00499201;avsnp147=rs76180538;Kaviar_AF=0.0112612;Kaviar_AC=1741;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0016;ExAC_AMR=0.0059;ExAC_EAS=0.0002;ExAC_FIN=0.0089;ExAC_NFE=0.0135;ExAC_OTH=0.0099;ExAC_SAS=0.0232;CLNALLELEID=99430;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1684;dpsi_zscore=0.658;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0114;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0184;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0088;gnomAD_exome_NFE=0.0127;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0232;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0083;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-969.902,0,-968.782:1052:510:518:14739:14620 0/1:-1493.72,0,-1656.32:1727:872:804:22998:25001 . . . 0/1:-898.608,0,-839.251:996:462:487:13708:13053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-781.847,0,-728.573:864:400:431:12123:11360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-926.389,0,-1256.59:1264:675:551:14983:18780 . . . . . . . . . . 0/1:-1251.61,0,-1179.77:1202:576:612:18567:17632:576,612 . . 0/1:-1144.74,0,-1489.47:1274:695:555:17455:21442:695,555 . . . . . . . . . . . . chr9 108380223 . T A 3877.98 . AB=0.473492;ABP=6.34889;AC=1;AF=0.5;AN=2;AO=259;CIGAR=1X;DP=547;DPB=547;DPRA=0;EPP=242.468;EPPR=286.818;GTI=0;LEN=1;MEANALT=3;MQM=40.0656;MQMR=40.1018;NS=1;NUMALT=1;ODDS=892.937;PAIRED=1;PAIREDR=0.992982;PAO=0;PQA=0;PQR=0;PRO=0;QA=7087;QR=8388;RO=285;RPL=204;RPP=189.145;RPPR=200.508;RPR=55;RUN=1;SAF=183;SAP=98.9994;SAR=76;SF=0;SRF=219;SRP=181.368;SRR=66;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs201625324;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0229;dpsi_zscore=-0.122;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.708e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.827e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-450.926,0,-564.371:547:285:259:7087:8388 . . . . . . . . . . . . . . . . . . . . . chr9 108380352 . G A 10359.90 . AB=0.466722;ABP=14.5722;AC=1;AF=0.5;AN=2;AO=561;CIGAR=1X;DP=1202;DPB=1202;DPRA=0;EPP=242.999;EPPR=278.407;GTI=0;LEN=1;MEANALT=3;MQM=40.0749;MQMR=40.7058;NS=1;NUMALT=1;ODDS=2385.47;PAIRED=0.989305;PAIREDR=0.986777;PAO=0;PQA=0;PQR=0;PRO=0;QA=16440;QR=16859;RO=605;RPL=270;RPP=4.71729;RPPR=5.25356;RPR=291;RUN=1;SAF=276;SAP=3.32383;SAR=285;SF=0;SRF=300;SRP=3.10003;SRR=305;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon8:c.G1023A:p.P341P,FKTN:NM_001079802:exon9:c.G1023A:p.P341P,FKTN:NM_001198963:exon9:c.G1023A:p.P341P;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=.;avsnp147=rs146967918;Kaviar_AF=0.0006792;Kaviar_AC=105;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0082;ExAC_NFE=0.0007;ExAC_OTH=0.0033;ExAC_SAS=6.095e-05;CLNALLELEID=44800;CLNDN=Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4055;dpsi_zscore=-0.990;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0083;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0069;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1069.41,0,-1122.65:1202:605:561:16440:16859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr9 108380355 . C A 11655.16 . AB=0.51778;ABP=6.17617;AC=51;AF=0.5;AN=92;AO=597;CIGAR=1X;DP=50900;DPB=1153;DPRA=0;EPP=440.975;EPPR=261.146;GTI=0;LEN=1;MEANALT=3;MQM=40.2312;MQMR=40.4241;NS=1;NUMALT=1;ODDS=2342.79;PAIRED=0.979899;PAIREDR=0.990859;PAO=0;PQA=0;PQR=0;PRO=0;QA=16927;QR=16104;RO=547;RPL=316;RPP=7.466;RPPR=8.44494;RPR=281;RUN=1;SAF=271;SAP=14.0132;SAR=326;SF=0,1;SRF=244;SRP=16.8291;SRR=303;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon8:c.C1026A:p.L342L,FKTN:NM_001079802:exon9:c.C1026A:p.L342L,FKTN:NM_001198963:exon9:c.C1026A:p.L342L;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.2909;esp6500siv2_ea=0.3177;esp6500siv2_all=0.2909;esp6500siv2_ea=0.3177;1000g2015aug_all=0.178315;avsnp147=rs17309806;Kaviar_AF=0.0016688;Kaviar_AC=258;Kaviar_AN=154602;ExAC_ALL=0.2518;ExAC_AFR=0.2416;ExAC_AMR=0.2712;ExAC_EAS=0.0937;ExAC_FIN=0.2915;ExAC_NFE=0.3058;ExAC_OTH=0.2340;ExAC_SAS=0.0951;CLNALLELEID=99415;CLNDN=Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0294;dpsi_zscore=0.193;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2537;gnomAD_exome_AFR=0.2337;gnomAD_exome_AMR=0.2800;gnomAD_exome_ASJ=0.2854;gnomAD_exome_EAS=0.0917;gnomAD_exome_FIN=0.2808;gnomAD_exome_NFE=0.3079;gnomAD_exome_OTH=0.2717;gnomAD_exome_SAS=0.0966;gnomAD_genome_ALL=0.2787;gnomAD_genome_AFR=0.2382;gnomAD_genome_AMR=0.2871;gnomAD_genome_ASJ=0.2748;gnomAD_genome_EAS=0.0953;gnomAD_genome_FIN=0.2765;gnomAD_genome_NFE=0.3218;gnomAD_genome_OTH=0.2848;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-1126.04,0,-1053.98:1153:547:597:16927:16104 . . . 0/1:-1024.64,0,-1076.63:1130:559:562:15738:16296 . 1/1:-2842.59,-307.221,0:1197:18:1167:33145:559 . . . 0/1:-1065.15,0,-986.953:1097:517:572:16075:15210 . 0/1:-1059.99,0,-1054.71:1124:538:572:16014:15847 . . . . . . . 0/1:-833.694,0,-1001.38:993:517:470:13033:14855 0/1:-1383.26,0,-1447.46:1503:736:759:21136:21759 . . 1/1:-3097.31,-343.419,0:1301:18:1276:36091:533 0/1:-1023.5,0,-1092.72:1128:572:551:15686:16380 . . . . . . . 0/1:-821.393,0,-790.93:853:406:445:12600:11958 0/1:-1273.31,0,-1226.61:1347:646:691:19227:18627 0/1:-1330.7,0,-1233.97:1377:641:722:20031:18846 . . 0/1:-1010.43,0,-1112.11:1163:581:572:15725:16710 0/1:-708.399,0,-709.878:753:364:383:10681:10686 . . . . 0/1:-1576.26,0,-1679.22:1730:849:874:24076:25222 0/1:-1259.43,0,-1311.83:1357:661:686:18988:19715 0/1:-977.709,0,-1042.34:1120:540:570:15138:15702 1/1:-1687.99,-189.296,0:694:6:684:19605:208 . . 0/1:-1141.93,0,-1315.14:1293:664:623:17482:19642 0/1:-1121.35,0,-1164.75:1257:606:638:17351:17885 0/1:-1282.16,0,-1700.29:1549:833:707:20125:24728 0/1:-1129.01,0,-1260.92:1264:646:613:17307:18833 0/1:-896.644,0,-832.026:936:439:493:13561:12797 . . 0/1:-923.782,0,-687.335:874:378:487:13603:10895 . . 0/1:-884.148,0,-709.598:861:382:468:13148:11081 1/1:-3517.25,-378.592,0:1502:29:1464:41367:801 0/1:-821.173,0,-981.408:945:495:443:12667:14459 . 0/1:-1537.14,0,-1536.99:1620:792:814:23240:23188 0/1:-1091.96,0,-1214.47:1211:617:588:16629:18118 . . 0/1:-853.41,0,-742.264:851:392:455:12657:11475 . 0/1:-1002.37,0,-1062.94:1069:530:532:15350:15872 0/1:-1454.23,0,-1298.05:1441:671:762:21538:19810 . . 0/1:-1150.47,0,-993.739:1118:515:599:17075:15232 . . . . 0/1:-870.426,0,-823.106:904:425:469:12993:12477 0/1:-1147.5,0,-1263.93:1270:637:620:17577:18859 . . . 1/1:-2128.21,-215.448,0:932:25:894:25302:707 0/1:-874.277,0,-925.58:940:467:470:13310:13869 0/1:-947.003,0,-1084.28:1071:539:528:14599:16193 . . . . . . . 0/1:-1240.94,0,-1191.81:1280:610:668:18760:18201 . 0/1:-1104.26,0,-909.146:960:440:513:16045:13734:440,513 . . 0/1:-465.837,0,-434.083:415:200:215:6780:6371:200,215 . . . . 0/1:-866.184,0,-874.065:825:409:414:12824:12860:409,414 . 0/1:-1094.33,0,-872.161:922:416:504:15727:13159:416,504 0/1:-881.73,0,-733.528:762:344:415:12779:11049:344,415 . . . . . 0/1:-997.424,0,-984.026:944:463:479:14690:14658:463,479 0/1:-919,0,-916.742:864:421:442:13511:13519:421,442 . chr9 108397495 . A G 7397.96 . AB=0.382911;ABP=115.899;AC=7;AF=0.5;AN=14;AO=363;CIGAR=1X;DP=7328;DPB=948;DPRA=0;EPP=40.3441;EPPR=42.779;GTI=0;LEN=1;MEANALT=3;MQM=39.4353;MQMR=38.5817;NS=1;NUMALT=1;ODDS=1196.99;PAIRED=0.955923;PAIREDR=0.928187;PAO=0;PQA=0;PQR=0;PRO=0;QA=9818;QR=16498;RO=557;RPL=282;RPP=244.69;RPPR=599.019;RPR=81;RUN=1;SAF=212;SAP=25.2694;SAR=151;SF=0,1;SRF=324;SRP=35.2939;SRR=233;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon10:c.A1336G:p.N446D,FKTN:NM_001079802:exon11:c.A1336G:p.N446D;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0089;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0089;esp6500siv2_ea=0.0124;1000g2015aug_all=0.00519169;avsnp147=rs41313301;Kaviar_AF=0.0113453;Kaviar_AC=1754;Kaviar_AN=154602;ExAC_ALL=0.0119;ExAC_AFR=0.0016;ExAC_AMR=0.0060;ExAC_EAS=0.0001;ExAC_FIN=0.0091;ExAC_NFE=0.0135;ExAC_OTH=0.0099;ExAC_SAS=0.0233;CLNALLELEID=44802;CLNDN=Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.585;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_pred=T;PROVEAN_score=-3.58;PROVEAN_pred=D;VEST3_score=0.16;CADD_raw=4.689;CADD_phred=24.6;DANN_score=0.998;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.502;MetaSVM_pred=T;MetaLR_score=0.229;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=6.04;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.770;GDI_full_10282015=.;dpsi_max_tissue=-0.5844;dpsi_zscore=-1.172;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0114;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0184;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0090;gnomAD_exome_NFE=0.0127;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0233;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0083;gnomAD_genome_NFE=0.0118;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-567.991,0,-1112.98:948:557:363:9818:16498 0/1:-1154.32,0,-1404.37:1475:735:695:18635:21568 . . . 0/1:-617.725,0,-749.638:816:404:383:10126:11896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-504.488,0,-546.316:641:316:301:8126:8998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-817.068,0,-1096.35:1113:588:497:13410:17050 . . . . . . . . . . 0/1:-1072.13,0,-1179.57:1115:568:536:16226:17528:568,536 . . 0/1:-1224.46,0,-1157.98:1220:576:623:18358:17643:576,623 . . . . . . . . . . . . chr9 131708133 . T C 11939.70 . AB=0.452155;ABP=30.2306;AC=1;AF=0.5;AN=2;AO=619;CIGAR=1X;DP=1369;DPB=1369;DPRA=0;EPP=87.2908;EPPR=114.996;GTI=0;LEN=1;MEANALT=3;MQM=39.4103;MQMR=39.9529;NS=1;NUMALT=1;ODDS=2749.23;PAIRED=0.982229;PAIREDR=0.975714;PAO=0;PQA=0;PQR=0;PRO=0;QA=18873;QR=21732;RO=700;RPL=306;RPP=3.18219;RPPR=25.9535;RPR=313;RUN=1;SAF=322;SAP=5.20282;SAR=297;SF=1;SRF=392;SRP=24.8987;SRR=308;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.A1450G:p.I484V;cytoBand=9q34.11;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0007;1000g2015aug_all=0.00319489;avsnp147=rs147630977;Kaviar_AF=0.001727;Kaviar_AC=267;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0007;ExAC_OTH=0.0033;ExAC_SAS=0.0111;CLNALLELEID=229664;CLNDN=Congenital_disorder_of_glycosylation_type_1M|not_specified;CLNDISDB=MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.161;SIFT_pred=T;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.085;MutationAssessor_pred=L;FATHMM_score=0.29;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_pred=N;VEST3_score=0.183;CADD_raw=0.428;CADD_phred=6.856;DANN_score=0.966;fathmm-MKL_coding_score=0.911;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.007;MetaSVM_pred=T;MetaLR_score=0.130;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.13;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.979;SiPhy_29way_logOdds=8.782;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0102;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1211.93,0,-1457.44:1369:700:619:18873:21732:700,619 . . . . . . . . . . chr9 131709581 . ATA ATTA 449.76 . AB=0.445652;ABP=5.3706;AC=1;AF=0.5;AN=2;AO=41;CIGAR=1M1I2M;DP=92;DPB=108;DPRA=0;EPP=53.9075;EPPR=25.2805;GTI=0;LEN=1;MEANALT=7;MQM=37.7805;MQMR=39.3023;NS=1;NUMALT=1;ODDS=103.561;PAIRED=0.95122;PAIREDR=0.976744;PAO=0.5;PQA=16;PQR=16;PRO=0.5;QA=1137;QR=1339;RO=43;RPL=36;RPP=53.9075;RPPR=25.2805;RPR=5;RUN=1;SAF=0;SAP=92.0407;SAR=41;SF=1;SRF=0;SRP=96.3836;SRR=43;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=DOLK:NM_014908:exon1:c.1dupA:p.M1fs;cytoBand=9q34.11;genomicSuperDups=.;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0092;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0092;1000g2015aug_all=0.00259585;avsnp147=rs531969689;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.0081;ExAC_AFR=0.0012;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0090;ExAC_NFE=0.0130;ExAC_OTH=0.0082;ExAC_SAS=0.0009;CLNALLELEID=177679;CLNDN=Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided;CLNDISDB=MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0079;gnomAD_exome_NFE=0.0114;gnomAD_exome_OTH=0.0064;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0064;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0089;gnomAD_genome_NFE=0.0092;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-73.325,0,-89.3272:92:43:41:1137:1339:43,41 . . . . . . . . . . . . . . . chrX 31165400 . G A 2770.38 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=128;CIGAR=1X;DP=138;DPB=138;DPRA=0;EPP=95.9086;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=37.625;MQMR=8;NS=1;NUMALT=1;ODDS=179.184;PAIRED=0.992188;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3503;QR=14;RO=1;RPL=47;RPP=22.6214;RPPR=5.18177;RPR=81;RUN=1;SAF=72;SAP=7.35324;SAR=56;SF=0;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_004017:exon13:c.C1546T:p.L516L,DMD:NM_004018:exon13:c.C1546T:p.L516L,DMD:NM_004015:exon14:c.C1585T:p.L529L,DMD:NM_004016:exon14:c.C1585T:p.L529L,DMD:NM_004014:exon21:c.C2602T:p.L868L,DMD:NM_004020:exon28:c.C3079T:p.L1027L,DMD:NM_004023:exon28:c.C3079T:p.L1027L,DMD:NM_004022:exon31:c.C3370T:p.L1124L,DMD:NM_004013:exon32:c.C3409T:p.L1137L,DMD:NM_004021:exon32:c.C3409T:p.L1137L,DMD:NM_004011:exon47:c.C6766T:p.L2256L,DMD:NM_004012:exon47:c.C6757T:p.L2253L,DMD:NM_000109:exon75:c.C10765T:p.L3589L,DMD:NM_004006:exon75:c.C10789T:p.L3597L,DMD:NM_004009:exon75:c.C10777T:p.L3593L,DMD:NM_004010:exon75:c.C10420T:p.L3474L;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=0.0050;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0050;esp6500siv2_ea=0.0073;1000g2015aug_all=0.0018543;avsnp147=rs1800281;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0047;ExAC_AFR=0.0008;ExAC_AMR=0.0024;ExAC_EAS=0;ExAC_FIN=0.0091;ExAC_NFE=0.0070;ExAC_OTH=0.0063;ExAC_SAS=0.0002;CLNALLELEID=100346;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3428;dpsi_zscore=1.705;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0048;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=7.78e-05;gnomAD_exome_FIN=0.0099;gnomAD_exome_NFE=0.0073;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0057;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0016;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0108;gnomAD_genome_NFE=0.0078;gnomAD_genome_OTH=0.0070;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-291.798,-38.1933,0:138:1:128:3503:14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31191631 . G T 2961.19 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=123;CIGAR=1X;DP=126;DPB=126;DPRA=0;EPP=24.6368;EPPR=3.0103;GTI=0;LEN=1;MEANALT=2;MQM=40.1138;MQMR=25;NS=1;NUMALT=1;ODDS=162.856;PAIRED=0.95935;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=3641;QR=50;RO=2;RPL=71;RPP=9.38348;RPPR=7.35324;RPR=52;RUN=1;SAF=91;SAP=64.4647;SAR=32;SF=1;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs779495674;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.162e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.118e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3109;dpsi_zscore=1.691;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.129e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.53e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-307.505,-33.7839,0:126:2:123:3641:50:2,123 . . chrX 31198469 . G T 10038.20 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=437;CIGAR=1X;DP=460;DPB=460;DPRA=0;EPP=7.18927;EPPR=4.31318;GTI=0;LEN=1;MEANALT=3;MQM=38.0778;MQMR=34.6;NS=1;NUMALT=1;ODDS=506.758;PAIRED=0.977117;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=12386;QR=362;RO=15;RPL=159;RPP=73.3769;RPPR=3.15506;RPR=278;RUN=1;SAF=238;SAP=10.5682;SAR=199;SF=0;SRF=11;SRP=10.1038;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs759603940;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.169e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.139e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1966;dpsi_zscore=0.716;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.618e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.257e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 1/1:-1013.45,-106.722,0:460:15:437:12386:362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31200830 . ACATTTTTTTTTTGGTTCC ACATTTTTTTTTTTGGTTCC,CCATTTTTTTTTTGGTTCC 233.62 . AB=0;ABP=0;AC=2,0;AF=0;AN=16;AO=14;CIGAR=1X;DP=2062;DPB=256;DPRA=0;EPP=12.937;EPPR=158.929;GTI=0;LEN=1;MEANALT=2;MQM=38.5714;MQMR=39.6192;NS=1;NUMALT=1;ODDS=269.671;PAIRED=1;PAIREDR=0.974895;PAO=0;PQA=0;PQR=0;PRO=0;QA=215;QR=6829;RO=239;RPL=6;RPP=3.63072;RPPR=24.825;RPR=8;RUN=1;SAF=3;SAP=12.937;SAR=11;SF=1;SRF=131;SRP=7.81661;SRR=108;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=0.4634;esp6500siv2_ea=0.4776;esp6500siv2_all=0.4634;esp6500siv2_ea=0.4776;1000g2015aug_all=0.478146;avsnp147=rs3833412;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;ExAC_ALL=0.4680;ExAC_AFR=0.4533;ExAC_AMR=0.4156;ExAC_EAS=0.3311;ExAC_FIN=0.5313;ExAC_NFE=0.4835;ExAC_OTH=0.4495;ExAC_SAS=0.5267;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4136;gnomAD_exome_AFR=0.4176;gnomAD_exome_AMR=0.3671;gnomAD_exome_ASJ=0.4566;gnomAD_exome_EAS=0.2965;gnomAD_exome_FIN=0.4695;gnomAD_exome_NFE=0.4320;gnomAD_exome_OTH=0.4300;gnomAD_exome_SAS=0.4200;gnomAD_genome_ALL=0.4668;gnomAD_genome_AFR=0.4384;gnomAD_genome_AMR=0.4357;gnomAD_genome_ASJ=0.5123;gnomAD_genome_EAS=0.3138;gnomAD_genome_FIN=0.4970;gnomAD_genome_NFE=0.4894;gnomAD_genome_OTH=0.4936;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.1732;dpsi_zscore=2.022;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-568.662:256:239:.,14:.,215:6829:239,14 0/0:.,.,.,.,.,-248.207:124:114:.,7:.,135:3242:114,7 1/1:-167.513,-7.74362,0,.,.,.:212:9:83,.:2257,.:272:9,83 . . 0/0:.,.,.,.,.,-573.277:260:241:.,14:.,256:7087:241,14 . . . . . 0/0:.,.,.,.,.,-453.436:224:204:.,14:.,312:5915:204,14 0/0:.,.,.,.,.,-655.871:313:291:.,18:.,292:8079:291,18 0/0:.,.,.,.,.,-948.547:439:405:.,23:.,430:11841:405,23 0/0:.,.,.,.,.,-477.062:234:216:.,12:.,242:5992:216,12 . . . chrX 31200831 . CATTTTTTTTTTGGTTCC CATTTTTTTTTTTGGTTCC,AATTTTTTTTTTGGTTCC 1410.69 . AB=0;ABP=0;AC=8,0;AF=1;AN=16;AO=61;CIGAR=2M1I16M;DP=1974;DPB=122.889;DPRA=0;EPP=32.9481;EPPR=8.80089;GTI=0;LEN=1;MEANALT=40;MQM=38.9016;MQMR=36.3333;NS=1;NUMALT=1;ODDS=55.3168;PAIRED=0.934426;PAIREDR=1;PAO=4;PQA=102.5;PQR=154.5;PRO=6;QA=1503;QR=190;RO=6;RPL=18;RPP=25.259;RPPR=16.0391;RPR=43;RUN=1;SAF=30;SAP=3.0459;SAR=31;SF=1;SRF=1;SRP=8.80089;SRR=5;TYPE=ins;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=0.4634;esp6500siv2_ea=0.4776;esp6500siv2_all=0.4634;esp6500siv2_ea=0.4776;1000g2015aug_all=0.478146;avsnp147=rs3833412;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;ExAC_ALL=0.4680;ExAC_AFR=0.4533;ExAC_AMR=0.4156;ExAC_EAS=0.3311;ExAC_FIN=0.5313;ExAC_NFE=0.4835;ExAC_OTH=0.4495;ExAC_SAS=0.5267;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4136;gnomAD_exome_AFR=0.4176;gnomAD_exome_AMR=0.3671;gnomAD_exome_ASJ=0.4566;gnomAD_exome_EAS=0.2965;gnomAD_exome_FIN=0.4695;gnomAD_exome_NFE=0.4320;gnomAD_exome_OTH=0.4300;gnomAD_exome_SAS=0.4200;gnomAD_genome_ALL=0.4668;gnomAD_genome_AFR=0.4384;gnomAD_genome_AMR=0.4357;gnomAD_genome_ASJ=0.5123;gnomAD_genome_EAS=0.3138;gnomAD_genome_FIN=0.4970;gnomAD_genome_NFE=0.4894;gnomAD_genome_OTH=0.4936;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7510;dpsi_zscore=1.883;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-112.946,-5.99165,0,.,.,.:112:6:61,.:1503,.:190:6,61 . . . . . . 1/1:-232.207,-22.0375,0,.,.,.:230:13:122,.:3031,.:414:13,122 . . 1/1:-207.873,-15.8118,0,.,.,.:202:10:101,.:2712,.:313:10,101 0/0:.,.,.,.,.,-698.436:311:291:.,18:.,339:8538:291,18 0/0:.,.,.,.,.,-937.137:428:400:.,24:.,463:11745:400,24 1/1:-174.028,-3.14151,0,.,.,.:218:14:96,.:2416,.:443:14,96 0/0:.,.,.,.,.,-396.765:178:165:.,13:.,206:4871:165,13 . 0/0:.,.,.,.,.,-652.758:295:275:.,17:.,278:8016:275,17 chrX 31200832 . ATTTTTTTTTTGGTTCC ATTTTTTTTTGGTTCC,ATTTTTTTTTTTGGTTCC,ATTTTTTTTTTTTGGTTCC,ATTTTTTTTTTGGTTCA 2943.02 . 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A G 10940.58 . 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C T 17064.98 . 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1/1:-1755.3,-225.717,0:775:1:753:21270:14 1/1:-1794.43,-231.179,0:790:1:771:21771:14 1/1:-2044.23,-277.312,0:984:3:937:25543:73 1/1:-1540.51,-186.778,0:662:4:642:18511:91 1/1:-1531.71,-193.141,0:692:6:663:18894:116 1/1:-1190.74,-155.334,0:553:2:528:14379:64 1/1:-1967.89,-256.437,0:884:1:853:23954:14 1/1:-1270.83,-161.725,0:572:3:546:15407:71 1/1:-2024.12,-260.973,0:889:1:870:24579:14 1/1:-1426.19,-175.712,0:638:5:613:17402:150 1/1:-1263.65,-165.544,0:591:2:564:15497:54 1/1:-1582.49,-200.59,0:698:1:671:18872:21 1/1:-1661.79,-201.918,0:739:6:707:19899:164 1/1:-1400.96,-165.903,0:613:5:589:16989:171 0/1:-1101.19,0,-1355.38:1431:733:657:18431:21167 1/1:-1352.87,-171.105,0:619:6:598:16407:137 1/1:-1895.98,-233.115,0:821:3:796:22691:104 1/1:-1878.14,-237.804,0:844:4:814:22723:96 1/1:-1295.44,-164.964,0:565:0:548:15612:0 . 1/1:-1626.87,-209.476,0:729:2:703:19641:46 1/1:-1939.75,-241.403,0:829:2:808:23079:28 1/1:-1401.1,-174.714,0:623:3:595:16712:60 1/1:-1430.4,-177.866,0:641:3:612:17195:82 1/1:-714.699,-90.2892,0:320:1:307:8597:27 1/1:-1284.77,-162.857,0:555:0:541:15332:0 1/1:-1547.29,-204.251,0:732:4:698:19507:104 1/1:-1452.93,-177.785,0:646:7:625:17538:175 1/1:-2425.26,-325.113,0:1172:5:1115:29909:136 1/1:-1874.44,-233.564,0:841:7:804:22683:154 1/1:-1582.73,-201.082,0:706:2:671:19212:28 1/1:-1219.34,-157.439,0:543:0:523:14687:0 1/1:-1137.63,-138.699,0:505:3:487:13781:100 1/1:-1464.98,-183.878,0:644:3:620:17651:82 1/1:-958.767,-129.795,0:450:1:431:11769:14 1/1:-992.9,-127.336,0:444:0:423:11942:0 1/1:-1299.96,-170.985,0:584:0:568:15527:0 0/1:-854.528,0,-638.372:901:375:480:13324:10823 1/1:-3657.2,-471.888,0:1650:4:1584:44184:76 1/1:-1182.23,-147.879,0:516:3:497:14438:62 1/1:-924.64,-120.421,0:425:3:407:11436:60 1/1:-3518.02,-443.964,0:1553:7:1499:42574:161 1/1:-1587.2,-200.188,0:686:3:669:18879:42 1/1:-1686.59,-227.211,0:800:2:761:20930:28 1/1:-1514.9,-199.282,0:679:0:662:18314:0 1/1:-1112.95,-138.632,0:491:3:472:13290:78 . 1/1:-1380.61,-168.64,0:627:6:591:16917:172 1/1:-1893.04,-240.227,0:829:3:803:22407:56 1/1:-1578.6,-197.37,0:723:6:700:19234:190 0/1:-562.088,0,-757.837:931:474:400:10477:12901 1/1:-2663.17,-344.325,0:1199:2:1148:32321:28 1/1:-1731.5,-223.515,0:781:1:752:20854:36 1/1:-1546.13,-200.95,0:711:1:676:18476:32 1/1:-1893.56,-234.956,0:823:1:790:22632:36 1/1:-1048.55,-128.92,0:460:3:444:12658:64 1/1:-987.256,-124.814,0:429:1:416:11870:32 1/1:-1610.46,-209.527,0:739:2:714:19607:68 1/1:-3274.94,-412.886,0:1442:7:1402:39544:158 1/1:-1612.07,-206.206,0:709:0:685:19363:0 1/1:-1208.39,-150.277,0:565:6:539:14840:155 1/1:-1328.81,-167.524,0:593:1:566:16028:36 1/1:-1180.53,-155.987,0:532:1:518:14229:14 1/1:-951.678,-112.787,0:421:4:402:11453:107 1/1:-1350.49,-176.347,0:608:1:589:16378:14 1/1:-738.199,-93.282,0:326:1:316:8912:36 1/1:-1604.78,-195.238,0:712:6:685:19224:164 . 1/1:-1326.13,-173.995,0:595:0:578:16013:0 1/1:-3299.76,-411.013,0:1419:3:1383:39398:82 1/1:-2853.22,-372.309,0:1296:4:1248:34763:63 1/1:-1327.07,-179.038,0:623:2:605:15978:41 . 1/1:-1985.2,-225.945,0:768:2:759:23057:63:2,759 1/1:-2102.66,-233.298,0:787:0:775:24191:0:0,775 1/1:-2144.1,-242.287,0:834:3:822:24955:68:3,822 . 1/1:-1762.62,-196.495,0:674:2:663:20368:41:2,663 1/1:-4735.74,-541.252,0:1822:0:1798:54963:0:0,1798 1/1:-1681.14,-191.756,0:647:0:637:19511:0:0,637 1/1:-1859.48,-204.744,0:728:5:714:21583:132:5,714 1/1:-1957.73,-214.753,0:764:4:749:22634:135:4,749 1/1:-1719.86,-187.387,0:672:4:656:20024:127:4,656 1/1:-2087.02,-238.582,0:808:1:798:24229:27:1,798 1/1:-1605.79,-181.822,0:614:0:604:18612:0:0,604 1/1:-3242.83,-374.372,0:1268:1:1245:37606:27:1,1245 . 1/1:-2159.01,-243.232,0:818:0:808:25090:0:0,808 0/1:-1438.5,0,-1340.77:1397:667:711:21655:20170:667,711 1/1:-2170.27,-251.962,0:851:0:837:25311:0:0,837 1/1:-1632.7,-180.435,0:629:3:615:19078:64:3,615 1/1:-1751.6,-198.981,0:668:0:661:20404:0:0,661 1/1:-2089.91,-231.457,0:801:3:789:24377:78:3,789 chrX 31496398 . T C 11753.54 . AB=0.498671;ABP=3.02761;AC=6;AF=0.5;AN=8;AO=563;CIGAR=1X;DP=3564;DPB=1129;DPRA=0;EPP=7.21054;EPPR=7.4805;GTI=0;LEN=1;MEANALT=3;MQM=36.2575;MQMR=37.431;NS=1;NUMALT=1;ODDS=2255.13;PAIRED=0.909414;PAIREDR=0.939509;PAO=0;PQA=0;PQR=0;PRO=0;QA=16694;QR=16119;RO=529;RPL=382;RPP=158.836;RPPR=89.315;RPR=181;RUN=1;SAF=235;SAP=36.3692;SAR=328;SF=0,1;SRF=231;SRP=21.437;SRR=298;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.A575G:p.H192R,DMD:NM_004013:exon16:c.A1382G:p.H461R,DMD:NM_004020:exon16:c.A1382G:p.H461R,DMD:NM_004021:exon16:c.A1382G:p.H461R,DMD:NM_004022:exon16:c.A1382G:p.H461R,DMD:NM_004023:exon16:c.A1382G:p.H461R,DMD:NM_004011:exon31:c.A4739G:p.H1580R,DMD:NM_004012:exon31:c.A4730G:p.H1577R,DMD:NM_000109:exon59:c.A8738G:p.H2913R,DMD:NM_004006:exon59:c.A8762G:p.H2921R,DMD:NM_004009:exon59:c.A8750G:p.H2917R,DMD:NM_004010:exon59:c.A8393G:p.H2798R;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0297;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0297;1000g2015aug_all=0.0148344;avsnp147=rs1800279;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0263;ExAC_AFR=0.0044;ExAC_AMR=0.0171;ExAC_EAS=0;ExAC_FIN=0.0407;ExAC_NFE=0.0340;ExAC_OTH=0.0427;ExAC_SAS=0.0265;CLNALLELEID=26308;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.181;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=A;MutationAssessor_score=-1.61;MutationAssessor_pred=N;FATHMM_score=1.46;FATHMM_pred=T;PROVEAN_score=0.8;PROVEAN_pred=N;VEST3_score=0.307;CADD_raw=-0.113;CADD_phred=1.633;DANN_score=0.696;fathmm-MKL_coding_score=0.863;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.994;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=2.92;phyloP7way_vertebrate=0.037;phyloP20way_mammalian=0.144;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.803;SiPhy_29way_logOdds=8.318;GDI_full_10282015=.;dpsi_max_tissue=0.0277;dpsi_zscore=0.183;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0258;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0148;gnomAD_exome_ASJ=0.0221;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0420;gnomAD_exome_NFE=0.0330;gnomAD_exome_OTH=0.0353;gnomAD_exome_SAS=0.0280;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0146;gnomAD_genome_ASJ=0.0158;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0318;gnomAD_genome_OTH=0.0362;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-1032.48,0,-998.633:1129:529:563:16694:16119 . 1/1:-1066.58,-125.895,0:467:6:453:13479:150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1458.74,-150.33,0:645:15:609:18011:447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1251.66,0,-1487.08:1323:690:613:19218:21705:690,613 . . . . chrX 31496426 . T C 10557.30 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=490;CIGAR=1X;DP=513;DPB=513;DPRA=0;EPP=45.5712;EPPR=10.8276;GTI=0;LEN=1;MEANALT=3;MQM=34.3939;MQMR=31;NS=1;NUMALT=1;ODDS=607.508;PAIRED=0.918367;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=14228;QR=310;RO=10;RPL=383;RPP=340.59;RPPR=16.9077;RPR=107;RUN=1;SAF=203;SAP=34.2795;SAR=287;SF=0;SRF=3;SRP=6.48466;SRR=7;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.A547G:p.N183D,DMD:NM_004013:exon16:c.A1354G:p.N452D,DMD:NM_004020:exon16:c.A1354G:p.N452D,DMD:NM_004021:exon16:c.A1354G:p.N452D,DMD:NM_004022:exon16:c.A1354G:p.N452D,DMD:NM_004023:exon16:c.A1354G:p.N452D,DMD:NM_004011:exon31:c.A4711G:p.N1571D,DMD:NM_004012:exon31:c.A4702G:p.N1568D,DMD:NM_000109:exon59:c.A8710G:p.N2904D,DMD:NM_004006:exon59:c.A8734G:p.N2912D,DMD:NM_004009:exon59:c.A8722G:p.N2908D,DMD:NM_004010:exon59:c.A8365G:p.N2789D;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=0.0315;esp6500siv2_ea=0.0085;esp6500siv2_all=0.0315;esp6500siv2_ea=0.0085;1000g2015aug_all=0.0370861;avsnp147=rs1800278;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0222;ExAC_AFR=0.0765;ExAC_AMR=0.0259;ExAC_EAS=0.0460;ExAC_FIN=0.0144;ExAC_NFE=0.0117;ExAC_OTH=0.0095;ExAC_SAS=0.0123;CLNALLELEID=26307;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.473;SIFT_pred=T;Polyphen2_HDIV_score=0.281;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.428;Polyphen2_HVAR_pred=B;LRT_score=0.113;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=-1.19;PROVEAN_pred=N;VEST3_score=0.139;CADD_raw=1.799;CADD_phred=14.98;DANN_score=0.982;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.038;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=1.66;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=1.646;GDI_full_10282015=.;dpsi_max_tissue=0.2099;dpsi_zscore=0.742;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM940361#"Muscular_dystrophy_Duchenne";gnomAD_exome_ALL=0.0209;gnomAD_exome_AFR=0.0771;gnomAD_exome_AMR=0.0240;gnomAD_exome_ASJ=0.0170;gnomAD_exome_EAS=0.0455;gnomAD_exome_FIN=0.0187;gnomAD_exome_NFE=0.0102;gnomAD_exome_OTH=0.0192;gnomAD_exome_SAS=0.0123;gnomAD_genome_ALL=0.0299;gnomAD_genome_AFR=0.0683;gnomAD_genome_AMR=0.0178;gnomAD_genome_ASJ=0.0317;gnomAD_genome_EAS=0.0545;gnomAD_genome_FIN=0.0148;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0139;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1098.91,-127.415,0:513:10:490:14228:310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31496431 . T A 8545.16 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=418;CIGAR=1X;DP=451;DPB=451;DPRA=0;EPP=7.68572;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=34.7512;MQMR=25.375;NS=1;NUMALT=1;ODDS=536.115;PAIRED=0.940191;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=11321;QR=222;RO=8;RPL=328;RPP=297.271;RPPR=7.35324;RPR=90;RUN=1;SAF=176;SAP=25.6393;SAR=242;SF=0;SRF=6;SRP=7.35324;SRR=2;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.A542T:p.E181V,DMD:NM_004013:exon16:c.A1349T:p.E450V,DMD:NM_004020:exon16:c.A1349T:p.E450V,DMD:NM_004021:exon16:c.A1349T:p.E450V,DMD:NM_004022:exon16:c.A1349T:p.E450V,DMD:NM_004023:exon16:c.A1349T:p.E450V,DMD:NM_004011:exon31:c.A4706T:p.E1569V,DMD:NM_004012:exon31:c.A4697T:p.E1566V,DMD:NM_000109:exon59:c.A8705T:p.E2902V,DMD:NM_004006:exon59:c.A8729T:p.E2910V,DMD:NM_004009:exon59:c.A8717T:p.E2906V,DMD:NM_004010:exon59:c.A8360T:p.E2787V;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=0.0303;esp6500siv2_ea=0.0085;esp6500siv2_all=0.0303;esp6500siv2_ea=0.0085;1000g2015aug_all=0.0357616;avsnp147=rs41305353;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0219;ExAC_AFR=0.0734;ExAC_AMR=0.0259;ExAC_EAS=0.0456;ExAC_FIN=0.0144;ExAC_NFE=0.0117;ExAC_OTH=0.0079;ExAC_SAS=0.0123;CLNALLELEID=26306;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.981;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.69;Polyphen2_HVAR_pred=P;LRT_score=0.039;LRT_pred=U;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.22;MutationAssessor_pred=N;FATHMM_score=1.18;FATHMM_pred=T;PROVEAN_score=-2.31;PROVEAN_pred=N;VEST3_score=0.493;CADD_raw=5.718;CADD_phred=26.9;DANN_score=0.994;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.040;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.4;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.681;GDI_full_10282015=.;dpsi_max_tissue=-0.0646;dpsi_zscore=-0.327;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM940360#"Muscular_dystrophy_Duchenne";gnomAD_exome_ALL=0.0206;gnomAD_exome_AFR=0.0737;gnomAD_exome_AMR=0.0237;gnomAD_exome_ASJ=0.0170;gnomAD_exome_EAS=0.0454;gnomAD_exome_FIN=0.0187;gnomAD_exome_NFE=0.0101;gnomAD_exome_OTH=0.0190;gnomAD_exome_SAS=0.0123;gnomAD_genome_ALL=0.0288;gnomAD_genome_AFR=0.0644;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0319;gnomAD_genome_EAS=0.0520;gnomAD_genome_FIN=0.0148;gnomAD_genome_NFE=0.0119;gnomAD_genome_OTH=0.0126;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-889.775,-116.111,0:451:8:418:11321:222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31645860 . T C 7400.04 . AB=0.491587;ABP=3.52185;AC=1;AF=0.5;AN=2;AO=409;CIGAR=1X;DP=832;DPB=832;DPRA=0;EPP=7.47536;EPPR=3.94409;GTI=0;LEN=1;MEANALT=3;MQM=38.8704;MQMR=38.7608;NS=1;NUMALT=1;ODDS=1703.92;PAIRED=0.9511;PAIREDR=0.954198;PAO=0;PQA=0;PQR=0;PRO=0;QA=11714;QR=12139;RO=393;RPL=146;RPP=75.6883;RPPR=71.0884;RPR=263;RUN=1;SAF=220;SAP=8.11246;SAR=189;SF=0;SRF=217;SRP=12.2985;SRR=176;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004013:exon12:c.A767G:p.Q256R,DMD:NM_004020:exon12:c.A767G:p.Q256R,DMD:NM_004021:exon12:c.A767G:p.Q256R,DMD:NM_004022:exon12:c.A767G:p.Q256R,DMD:NM_004023:exon12:c.A767G:p.Q256R,DMD:NM_004011:exon27:c.A4124G:p.Q1375R,DMD:NM_004012:exon27:c.A4115G:p.Q1372R,DMD:NM_000109:exon55:c.A8123G:p.Q2708R,DMD:NM_004006:exon55:c.A8147G:p.Q2716R,DMD:NM_004009:exon55:c.A8135G:p.Q2712R,DMD:NM_004010:exon55:c.A7778G:p.Q2593R;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750640802;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=8.485e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=195140;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.393;SIFT_pred=T;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.824;Polyphen2_HVAR_pred=P;LRT_score=0.106;LRT_pred=N;MutationTaster_score=0.608;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=4.02;FATHMM_pred=T;PROVEAN_score=-0.96;PROVEAN_pred=N;VEST3_score=0.445;CADD_raw=2.162;CADD_phred=17.26;DANN_score=0.995;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.372;MetaSVM_pred=T;MetaLR_score=0.295;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.81;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.170;GDI_full_10282015=.;dpsi_max_tissue=0.0308;dpsi_zscore=0.201;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.752e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR . . 0/1:-756.143,0,-779.915:832:393:409:11714:12139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31676096 . G A 6775.78 . AB=0.490654;ABP=3.49736;AC=68;AF=0.5;AN=80;AO=315;CIGAR=1X;DP=15710;DPB=642;DPRA=0;EPP=5.00254;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.9016;MQMR=39.8208;NS=1;NUMALT=1;ODDS=1345.04;PAIRED=0.974603;PAIREDR=0.974843;PAO=0;PQA=0;PQR=0;PRO=0;QA=9151;QR=9701;RO=318;RPL=133;RPP=19.5617;RPPR=40.4033;RPR=182;RUN=1;SAF=202;SAP=57.6142;SAR=113;SF=0,1;SRF=217;SRP=94.895;SRR=101;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.3389;esp6500siv2_ea=0.3511;esp6500siv2_all=0.3389;esp6500siv2_ea=0.3511;1000g2015aug_all=0.328477;avsnp147=rs2270672;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.3398;ExAC_AFR=0.3160;ExAC_AMR=0.1696;ExAC_EAS=0.3047;ExAC_FIN=0.4436;ExAC_NFE=0.3496;ExAC_OTH=0.3462;ExAC_SAS=0.4456;CLNALLELEID=100683;CLNDN=Dilated_cardiomyopathy_3B|not_specified;CLNDISDB=MedGen:C3668940,OMIM:302045|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0205;dpsi_zscore=-0.107;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3336;gnomAD_exome_AFR=0.3159;gnomAD_exome_AMR=0.1801;gnomAD_exome_ASJ=0.3194;gnomAD_exome_EAS=0.3073;gnomAD_exome_FIN=0.4358;gnomAD_exome_NFE=0.3465;gnomAD_exome_OTH=0.3266;gnomAD_exome_SAS=0.4414;gnomAD_genome_ALL=0.3560;gnomAD_genome_AFR=0.3183;gnomAD_genome_AMR=0.2039;gnomAD_genome_ASJ=0.3770;gnomAD_genome_EAS=0.3036;gnomAD_genome_FIN=0.4195;gnomAD_genome_NFE=0.3714;gnomAD_genome_OTH=0.4003;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-598.364,0,-645.916:642:318:315:9151:9701 1/1:-941.122,-93.8118,0:382:7:365:11201:226 . . . 0/1:-665.322,0,-703.17:708:360:336:10189:10563 0/1:-512.618,0,-525.193:539:263:262:7963:7905 . 1/1:-777.731,-80.679,0:317:6:308:9247:155 1/1:-952.692,-95.2423,0:411:10:396:11554:322 1/1:-600.353,-66.7015,0:256:4:250:7334:109 . 0/1:-539.273,0,-592.226:602:302:283:8506:8831 . . . 1/1:-559.315,-63.5939,0:235:3:230:6751:73 . 1/1:-848.686,-94.139,0:336:2:332:9852:72 . 1/1:-567.136,-55.9802,0:247:7:233:6980:192 . 0/1:-396.089,0,-251.888:341:134:199:5815:4126 . 1/1:-888.125,-94.5441,0:365:6:356:10592:180 0/1:-451.376,0,-399.191:457:213:233:6972:6297 . . . 0/1:-398.582,0,-429.042:417:203:205:6123:6336 . . . . . 1/1:-885.431,-90.3957,0:375:10:359:10659:289 . . . . . . . 1/1:-859.391,-94.972,0:356:4:347:10164:120 1/1:-1110.52,-119.381,0:444:5:437:13029:154 . 1/1:-577.546,-57.2341,0:243:7:236:6994:222 . . . . 1/1:-1353.06,-156.056,0:560:3:547:16061:108 1/1:-970.951,-98.9946,0:382:7:373:11385:173 . 1/1:-550.221,-62.7639,0:242:3:232:6743:95 . . . . . 0/1:-433.634,0,-404.115:455:215:232:6701:6378 0/1:-721.327,0,-751.844:773:377:369:11044:11365 . 1/1:-533.316,-57.6639,0:222:3:218:6464:99 . 1/1:-874.9,-88.5175,0:356:6:348:10440:204 . . . . . . . . 0/1:-593.088,0,-504.375:588:258:310:8975:7964 . 1/1:-983.929,-109.687,0:386:2:380:11527:68 . . . . 0/1:-558.583,0,-593.068:590:296:285:8662:9002 . . 1/1:-574.525,-47.2004,0:259:13:244:7073:348 1/1:-695.719,-77.773,0:282:2:275:8136:63 . . . 1/1:-844.658,-84.1494,0:339:7:330:10094:195 . 1/1:-667.233,-65.2235,0:271:6:263:7999:177 0/1:-801.994,0,-683.262:747:341:394:11843:10478 1/1:-1691.21,-174.297,0:698:11:678:20096:375 . . . . . . 1/1:-376.031,-41.5421,0:139:0:138:4309:0:0,138 . 1/1:-375.468,-31.779,0:153:5:146:4473:154:5,146 1/1:-330.902,-39.1339,0:131:0:130:3842:0:0,130 . . . . 1/1:-756.493,-74.586,0:298:6:292:9001:208:6,292 . . . 1/1:-423.58,-46.7392,0:166:1:164:5013:32:1,164 . . . chrX 31697636 . A G 10214.45 . AB=0.489564;ABP=4.00745;AC=41;AF=0.5;AN=50;AO=516;CIGAR=1X;DP=16185;DPB=1054;DPRA=0;EPP=9.74355;EPPR=10.3484;GTI=0;LEN=1;MEANALT=3;MQM=39.8411;MQMR=40.2682;NS=1;NUMALT=1;ODDS=2287.11;PAIRED=0.957364;PAIREDR=0.978927;PAO=0;PQA=0;PQR=0;PRO=0;QA=15265;QR=16446;RO=522;RPL=273;RPP=6.79775;RPPR=8.40154;RPR=243;RUN=1;SAF=327;SAP=83.1528;SAR=189;SF=0,1;SRF=333;SRP=89.2702;SRR=189;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_004013:exon10:c.T348C:p.N116N,DMD:NM_004020:exon10:c.T348C:p.N116N,DMD:NM_004021:exon10:c.T348C:p.N116N,DMD:NM_004022:exon10:c.T348C:p.N116N,DMD:NM_004023:exon10:c.T348C:p.N116N,DMD:NM_004011:exon25:c.T3705C:p.N1235N,DMD:NM_004012:exon25:c.T3696C:p.N1232N,DMD:NM_000109:exon53:c.T7704C:p.N2568N,DMD:NM_004006:exon53:c.T7728C:p.N2576N,DMD:NM_004009:exon53:c.T7716C:p.N2572N,DMD:NM_004010:exon53:c.T7359C:p.N2453N;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.1679;esp6500siv2_ea=0.2027;esp6500siv2_all=0.1679;esp6500siv2_ea=0.2027;1000g2015aug_all=0.181192;avsnp147=rs1801188;Kaviar_AF=0.166059;Kaviar_AC=25673;Kaviar_AN=154602;ExAC_ALL=0.1713;ExAC_AFR=0.1012;ExAC_AMR=0.0759;ExAC_EAS=0.3561;ExAC_FIN=0.1303;ExAC_NFE=0.1871;ExAC_OTH=0.1873;ExAC_SAS=0.1391;CLNALLELEID=100676;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5237;dpsi_zscore=1.155;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1693;gnomAD_exome_AFR=0.0996;gnomAD_exome_AMR=0.0826;gnomAD_exome_ASJ=0.1780;gnomAD_exome_EAS=0.3481;gnomAD_exome_FIN=0.1266;gnomAD_exome_NFE=0.1943;gnomAD_exome_OTH=0.1756;gnomAD_exome_SAS=0.1419;gnomAD_genome_ALL=0.1572;gnomAD_genome_AFR=0.0954;gnomAD_genome_AMR=0.1015;gnomAD_genome_ASJ=0.15;gnomAD_genome_EAS=0.3494;gnomAD_genome_FIN=0.1350;gnomAD_genome_NFE=0.1815;gnomAD_genome_OTH=0.1715;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1010.41,0,-1105.33:1054:522:516:15265:16446 . . . 0/1:-660.829,0,-974.074:804:450:346:10436:14184 . . . . 0/1:-981.66,0,-979.799:980:461:499:14754:14711 0/1:-787.997,0,-1069.62:946:495:433:12569:15676 . . . . . . . . . . . . . 1/1:-965.608,-80.6769,0:431:18:403:11759:543 1/1:-1417.32,-145.129,0:580:10:561:16773:303 . . 1/1:-1109.23,-113.883,0:476:11:452:13429:289 . . . 1/1:-1389.08,-159.688,0:554:1:540:16236:36 . . 0/1:-940.231,0,-1195.82:1094:579:500:14685:17974 . . . . 1/1:-1114,-128.053,0:447:2:438:12879:50 . . 1/1:-1100.69,-117.965,0:454:5:437:12995:171 . . 1/1:-1008.92,-107.733,0:403:4:394:11935:136 . . . . . . 1/1:-1031.76,-112.384,0:417:4:408:12081:140 . 1/1:-679.899,-79.3028,0:285:2:275:8064:46 . . . 0/1:-1007,0,-1343.3:1188:626:540:16064:19738 1/1:-1049.97,-97.3501,0:439:11:421:12594:370 . 0/1:-1102.15,0,-1217.71:1175:584:580:16973:18429 . . 1/1:-1282.14,-137.752,0:536:8:519:15210:235 . . . . . 0/1:-649.958,0,-781.725:776:389:374:10332:11811 . . . . . . . . . . . . . 1/1:-1318.72,-134.512,0:557:15:533:15854:390 1/1:-832.64,-90.0759,0:337:4:330:9822:118 . . . . . . . . 1/1:-1280.57,-124.573,0:505:10:485:15080:276:10,485 . 1/1:-798.156,-79.8626,0:308:4:296:9290:118:4,296 . . . . . . 1/1:-1419.25,-136.483,0:553:11:537:16747:335:11,537 . . . . 0/1:-888.954,0,-970.121:886:451:421:13179:14346:451,421 . . . . chrX 31792291 . G A 5907.06 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=238;CIGAR=1X;DP=253;DPB=253;DPRA=0;EPP=9.17801;EPPR=21.1059;GTI=0;LEN=1;MEANALT=3;MQM=39.3487;MQMR=41.6667;NS=1;NUMALT=1;ODDS=239.405;PAIRED=0.966387;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7587;QR=371;RO=12;RPL=189;RPP=181.837;RPPR=5.9056;RPR=49;RUN=1;SAF=89;SAP=35.8561;SAR=149;SF=1;SRF=7;SRP=3.73412;SRR=5;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon23:c.C3305T:p.T1102I,DMD:NM_004012:exon23:c.C3296T:p.T1099I,DMD:NM_000109:exon51:c.C7304T:p.T2435I,DMD:NM_004006:exon51:c.C7328T:p.T2443I,DMD:NM_004009:exon51:c.C7316T:p.T2439I,DMD:NM_004010:exon51:c.C6959T:p.T2320I;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.324;SIFT_pred=T;Polyphen2_HDIV_score=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.075;Polyphen2_HVAR_pred=B;LRT_score=0.035;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=4.08;FATHMM_pred=T;PROVEAN_score=-0.72;PROVEAN_pred=N;VEST3_score=0.251;CADD_raw=2.709;CADD_phred=20.9;DANN_score=0.940;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.965;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.28;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.019;GDI_full_10282015=.;dpsi_max_tissue=-0.0552;dpsi_zscore=-0.288;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-613.322,-42.5287,0:253:12:238:7587:371:12,238 . . . . . . . . . . . . . . . . . . chrX 31893307 . T G 4543.68 . AB=0;ABP=0;AC=38;AF=1;AN=44;AO=249;CIGAR=1X;DP=6143;DPB=263;DPRA=0;EPP=72.0875;EPPR=29.068;GTI=0;LEN=1;MEANALT=3;MQM=39.9478;MQMR=41.8333;NS=1;NUMALT=1;ODDS=273.261;PAIRED=0.959839;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6927;QR=284;RO=12;RPL=119;RPP=4.06551;RPPR=3.73412;RPR=130;RUN=1;SAF=107;SAP=13.6932;SAR=142;SF=0,1;SRF=5;SRP=3.73412;SRR=7;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=DMD;GeneDetail.refGene=NM_004006:exon48:c.7095+1A>C,NM_004010:exon48:c.6726+1A>C,NM_004009:exon48:c.7083+1A>C,NM_004011:exon20:c.3072+1A>C,NM_004012:exon20:c.3063+1A>C,NM_000109:exon48:c.7071+1A>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.2046;esp6500siv2_ea=0.2178;esp6500siv2_all=0.2046;esp6500siv2_ea=0.2178;1000g2015aug_all=0.183311;avsnp147=rs1800275;Kaviar_AF=0.208329;Kaviar_AC=32208;Kaviar_AN=154602;ExAC_ALL=0.2781;ExAC_AFR=0.2023;ExAC_AMR=0.5924;ExAC_EAS=0.1232;ExAC_FIN=0.2630;ExAC_NFE=0.2685;ExAC_OTH=0.2315;ExAC_SAS=0.1754;CLNALLELEID=177498;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.288;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=U;MutationTaster_score=0.689;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_pred=N;VEST3_score=0.454;CADD_raw=1.905;CADD_phred=15.62;DANN_score=0.987;fathmm-MKL_coding_score=0.887;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.014;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.18;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.729;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=12.909;GDI_full_10282015=.;dpsi_max_tissue=2.0639;dpsi_zscore=1.988;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2342;gnomAD_exome_AFR=0.1709;gnomAD_exome_AMR=0.5172;gnomAD_exome_ASJ=0.1878;gnomAD_exome_EAS=0.0988;gnomAD_exome_FIN=0.1941;gnomAD_exome_NFE=0.2076;gnomAD_exome_OTH=0.2181;gnomAD_exome_SAS=0.1374;gnomAD_genome_ALL=0.2011;gnomAD_genome_AFR=0.1573;gnomAD_genome_AMR=0.4651;gnomAD_genome_ASJ=0.1720;gnomAD_genome_EAS=0.1015;gnomAD_genome_FIN=0.1922;gnomAD_genome_NFE=0.2224;gnomAD_genome_OTH=0.2103;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-577.315,-53.2753,0:263:12:249:6927:284 . . . . 0/1:-404.402,0,-341.994:397:189:206:6024:5277 . . . . . . . . 1/1:-626.757,-60.9199,0:277:11:265:7357:252 . . 1/1:-478.579,-49.6235,0:215:7:205:5669:160 . . . . . 1/1:-467.542,-42.7819,0:221:11:209:5629:274 . . . 1/1:-376.246,-34.7531,0:179:10:168:4589:211 . . 1/1:-639.322,-70.6129,0:291:9:276:7477:170 . 1/1:-210.032,-16.8598,0:101:5:96:2553:150 . . . . 1/1:-470.194,-53.8133,0:220:8:210:5493:152 . . . . . . 1/1:-532.166,-57.5605,0:240:6:233:6264:160 1/1:-451.086,-50.4721,0:204:6:196:5341:115 . . . 1/1:-530.272,-52.4819,0:233:7:225:6296:195 1/1:-994.856,-114.474,0:448:14:427:11717:244 . 1/1:-555.866,-59.7698,0:237:6:229:6419:122 . . . . . . 0/1:-238.388,0,-329.667:323:176:141:3815:4919 0/1:-401.904,0,-519.697:519:274:236:6439:7706 . . . . . . . . . . . . . . . . . . . 0/1:-431.431,0,-406.992:474:229:238:6567:6309 1/1:-503.221,-44.7031,0:231:10:221:6041:278 . . . . . . . . . . 0/1:-248.389,0,-459.807:390:231:152:4170:6663 . . . . . . . . . . . 1/1:-343.02,-32.7493,0:135:5:129:3994:92:5,129 . . 0/1:-300.195,0,-362.962:336:178:157:4637:5385:178,157 . . . . . 1/1:-527.631,-49.5997,0:209:6:202:6181:146:6,202 . chrX 31947797 . G A 2733.56 . AB=0.454286;ABP=9.36341;AC=1;AF=0.5;AN=2;AO=159;CIGAR=1X;DP=350;DPB=350;DPRA=0;EPP=9.03306;EPPR=31.1174;GTI=0;LEN=1;MEANALT=3;MQM=36.956;MQMR=38.1067;NS=1;NUMALT=1;ODDS=629.426;PAIRED=0.924528;PAIREDR=0.966292;PAO=0;PQA=0;PQR=0;PRO=0;QA=4607;QR=5060;RO=178;RPL=87;RPP=6.08314;RPPR=20.6261;RPR=72;RUN=1;SAF=84;SAP=4.11652;SAR=75;SF=0;SRF=97;SRP=6.13332;SRR=81;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_004011:exon19:c.C2805T:p.P935P,DMD:NM_004012:exon19:c.C2796T:p.P932P,DMD:NM_000109:exon47:c.C6804T:p.P2268P,DMD:NM_004006:exon47:c.C6828T:p.P2276P,DMD:NM_004009:exon47:c.C6816T:p.P2272P,DMD:NM_004010:exon47:c.C6459T:p.P2153P;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000529801;avsnp147=rs72466595;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0007;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=100647;CLNDN=Duchenne_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7969;dpsi_zscore=1.384;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0033;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-281.565,0,-321.841:350:178:159:4607:5060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31986499 . G A 6903.81 . AB=0.434783;ABP=29.3512;AC=3;AF=0.5;AN=4;AO=310;CIGAR=1X;DP=1112;DPB=713;DPRA=0;EPP=43.4697;EPPR=33.8684;GTI=0;LEN=1;MEANALT=3;MQM=39.4226;MQMR=39.1627;NS=1;NUMALT=1;ODDS=1136.21;PAIRED=0.958065;PAIREDR=0.952;PAO=0;PQA=0;PQR=0;PRO=0;QA=8312;QR=10691;RO=375;RPL=115;RPP=47.8407;RPPR=64.4427;RPR=195;RUN=1;SAF=178;SAP=17.8324;SAR=132;SF=0;SRF=217;SRP=23.1674;SRR=158;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon17:c.C2548T:p.R850W,DMD:NM_004012:exon17:c.C2539T:p.R847W,DMD:NM_000109:exon45:c.C6547T:p.R2183W,DMD:NM_004006:exon45:c.C6571T:p.R2191W,DMD:NM_004009:exon45:c.C6559T:p.R2187W,DMD:NM_004010:exon45:c.C6202T:p.R2068W;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs149322279;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=9.883e-05;CLNALLELEID=194683;CLNDN=Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.006;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.375;MutationAssessor_pred=M;FATHMM_score=0.98;FATHMM_pred=T;PROVEAN_score=-4.44;PROVEAN_pred=D;VEST3_score=0.706;CADD_raw=6.561;CADD_phred=31;DANN_score=0.999;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.494;MetaSVM_pred=T;MetaLR_score=0.269;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=14.580;GDI_full_10282015=.;dpsi_max_tissue=-0.2649;dpsi_zscore=-0.800;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=8.181e-05;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR 0/1:-511.715,0,-698.013:713:375:310:8312:10691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-902.013,-103.225,0:399:5:374:10635:123 . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31986586 . A G 4012.92 . AB=0.464217;ABP=8.76029;AC=1;AF=0.5;AN=2;AO=240;CIGAR=1X;DP=517;DPB=517;DPRA=0;EPP=4.78367;EPPR=5.43329;GTI=0;LEN=1;MEANALT=3;MQM=37.575;MQMR=38.3938;NS=1;NUMALT=1;ODDS=924.009;PAIRED=0.958333;PAIREDR=0.938224;PAO=0;PQA=0;PQR=0;PRO=0;QA=6798;QR=7766;RO=259;RPL=132;RPP=8.22183;RPPR=15.7625;RPR=108;RUN=1;SAF=73;SAP=82.9567;SAR=167;SF=0;SRF=86;SRP=66.4693;SRR=173;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_004011:exon17:c.T2461C:p.L821L,DMD:NM_004012:exon17:c.T2452C:p.L818L,DMD:NM_000109:exon45:c.T6460C:p.L2154L,DMD:NM_004006:exon45:c.T6484C:p.L2162L,DMD:NM_004009:exon45:c.T6472C:p.L2158L,DMD:NM_004010:exon45:c.T6115C:p.L2039L;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs768153284;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=2.301e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.203e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2804;dpsi_zscore=-0.824;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.688e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.778e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-417.635,0,-496.128:517:259:240:6798:7766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31986587 . T C 8393.83 . AB=0.473373;ABP=9.25489;AC=1;AF=0.5;AN=2;AO=480;CIGAR=1X;DP=1014;DPB=1014;DPRA=0;EPP=29.1404;EPPR=10.8675;GTI=0;LEN=1;MEANALT=3;MQM=38.6417;MQMR=39.5538;NS=1;NUMALT=1;ODDS=1932.75;PAIRED=0.979167;PAIREDR=0.976517;PAO=0;PQA=0;PQR=0;PRO=0;QA=13634;QR=16141;RO=511;RPL=281;RPP=33.429;RPPR=32.2848;RPR=199;RUN=1;SAF=177;SAP=74.8317;SAR=303;SF=0;SRF=163;SRP=148.448;SRR=348;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_004011:exon17:c.A2460G:p.T820T,DMD:NM_004012:exon17:c.A2451G:p.T817T,DMD:NM_000109:exon45:c.A6459G:p.T2153T,DMD:NM_004006:exon45:c.A6483G:p.T2161T,DMD:NM_004009:exon45:c.A6471G:p.T2157T,DMD:NM_004010:exon45:c.A6114G:p.T2038T;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs776054222;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.753e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=535143;CLNDN=Duchenne_muscular_dystrophy;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3848;dpsi_zscore=1.003;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.813e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.296e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-860.427,0,-1077.99:1014:511:480:13634:16141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 31986607 . G A 6060.30 . AB=0;ABP=0;AC=9;AF=1;AN=12;AO=320;CIGAR=1X;DP=2571;DPB=348;DPRA=0;EPP=4.34033;EPPR=14.4341;GTI=0;LEN=1;MEANALT=3;MQM=39.7313;MQMR=38.6087;NS=1;NUMALT=1;ODDS=281.73;PAIRED=0.975;PAIREDR=0.913043;PAO=0;PQA=0;PQR=0;PRO=0;QA=9766;QR=657;RO=23;RPL=176;RPP=9.95901;RPPR=3.10471;RPR=144;RUN=1;SAF=85;SAP=155.692;SAR=235;SF=0,1;SRF=9;SRP=5.3706;SRR=14;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon17:c.C2440T:p.R814W,DMD:NM_004012:exon17:c.C2431T:p.R811W,DMD:NM_000109:exon45:c.C6439T:p.R2147W,DMD:NM_004006:exon45:c.C6463T:p.R2155W,DMD:NM_004009:exon45:c.C6451T:p.R2151W,DMD:NM_004010:exon45:c.C6094T:p.R2032W;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0266;esp6500siv2_ea=0.0378;esp6500siv2_all=0.0266;esp6500siv2_ea=0.0378;1000g2015aug_all=0.0129801;avsnp147=rs1800273;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=0.0260;ExAC_AFR=0.0057;ExAC_AMR=0.0125;ExAC_EAS=0;ExAC_FIN=0.0342;ExAC_NFE=0.0393;ExAC_OTH=0.0339;ExAC_SAS=0.0057;CLNALLELEID=100641;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.179;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.825;Polyphen2_HVAR_pred=P;LRT_score=0.094;LRT_pred=U;MutationTaster_score=0.974;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_pred=N;VEST3_score=0.252;CADD_raw=5.113;CADD_phred=25.3;DANN_score=0.998;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.960;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=2.52;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.089;phastCons7way_vertebrate=0.548;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=13.794;GDI_full_10282015=.;dpsi_max_tissue=-0.5466;dpsi_zscore=-1.137;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0264;gnomAD_exome_AFR=0.0054;gnomAD_exome_AMR=0.0184;gnomAD_exome_ASJ=0.0203;gnomAD_exome_EAS=7.808e-05;gnomAD_exome_FIN=0.0325;gnomAD_exome_NFE=0.0410;gnomAD_exome_OTH=0.0276;gnomAD_exome_SAS=0.0049;gnomAD_genome_ALL=0.0269;gnomAD_genome_AFR=0.0057;gnomAD_genome_AMR=0.0129;gnomAD_genome_ASJ=0.0106;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0354;gnomAD_genome_NFE=0.0404;gnomAD_genome_OTH=0.0277;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-778.083,-48.9486,0:348:23:320:9766:657 . . . . . . . . . . . . 0/1:-161.818,0,-168.037:172:83:84:2454:2566 . . . . . . . . 1/1:-786.335,-92.1965,0:338:3:323:9418:67 . . . . . . . . . . . . 0/1:-829.388,0,-804.249:850:410:423:12670:12370 . . . . . . . . . . . . 0/1:-662.571,0,-585.573:660:306:337:10077:9168 . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-515.709,-40.2594,0:203:7:193:6154:226:7,193 . . . . . . . . . . . . . . . . chrX 32380996 . C T 11220.21 . AB=0;ABP=0;AC=109;AF=1;AN=120;AO=562;CIGAR=1X;DP=36370;DPB=583;DPRA=0;EPP=14.2772;EPPR=3.32051;GTI=0;LEN=1;MEANALT=3;MQM=38.0854;MQMR=41.4286;NS=1;NUMALT=1;ODDS=728.215;PAIRED=0.914591;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=16420;QR=173;RO=7;RPL=417;RPP=288.872;RPPR=10.7656;RPR=145;RUN=1;SAF=211;SAP=78.7414;SAR=351;SF=0,1;SRF=2;SRP=5.80219;SRR=5;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon9:c.G1211A:p.R404H,DMD:NM_004012:exon9:c.G1202A:p.R401H,DMD:NM_000109:exon37:c.G5210A:p.R1737H,DMD:NM_004006:exon37:c.G5234A:p.R1745H,DMD:NM_004009:exon37:c.G5222A:p.R1741H,DMD:NM_004010:exon37:c.G4865A:p.R1622H;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.3331;esp6500siv2_ea=0.4770;esp6500siv2_all=0.3331;esp6500siv2_ea=0.4770;1000g2015aug_all=0.465166;avsnp147=rs1801187;Kaviar_AF=0.482982;Kaviar_AC=74670;Kaviar_AN=154602;ExAC_ALL=0.5142;ExAC_AFR=0.0782;ExAC_AMR=0.7450;ExAC_EAS=0.7371;ExAC_FIN=0.5348;ExAC_NFE=0.4823;ExAC_OTH=0.5008;ExAC_SAS=0.6657;CLNALLELEID=100557;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_pred=M;FATHMM_score=0.74;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_pred=N;VEST3_score=0.4;CADD_raw=6.788;CADD_phred=32;DANN_score=1.000;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.904;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.24;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.940;SiPhy_29way_logOdds=17.920;GDI_full_10282015=.;dpsi_max_tissue=-0.4638;dpsi_zscore=-1.055;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5294;gnomAD_exome_AFR=0.0713;gnomAD_exome_AMR=0.7287;gnomAD_exome_ASJ=0.4467;gnomAD_exome_EAS=0.7340;gnomAD_exome_FIN=0.5289;gnomAD_exome_NFE=0.4775;gnomAD_exome_OTH=0.5219;gnomAD_exome_SAS=0.6587;gnomAD_genome_ALL=0.3913;gnomAD_genome_AFR=0.0789;gnomAD_genome_AMR=0.6987;gnomAD_genome_ASJ=0.4293;gnomAD_genome_EAS=0.7234;gnomAD_genome_FIN=0.5224;gnomAD_genome_NFE=0.4730;gnomAD_genome_OTH=0.5245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-1347.55,-155.931,0:583:7:562:16420:173 0/1:-929.715,0,-999.138:1022:509:495:14501:15401 1/1:-753.23,-92.4542,0:340:3:323:9093:64 . 0/1:-1217.07,0,-1204.09:1329:610:677:19151:18723 0/1:-650.798,0,-807.704:808:401:385:10631:12278 . 1/1:-984.857,-106.756,0:449:9:424:11853:276 . . . . . . 1/1:-1691.57,-197.859,0:731:6:699:19960:163 . 1/1:-2365.12,-259.344,0:1000:15:967:28064:425 . 1/1:-808.155,-93.5958,0:380:8:358:10010:211 1/1:-909.84,-95.1038,0:399:10:381:11034:267 1/1:-1387.02,-170.22,0:612:4:595:16797:114 1/1:-1263.17,-163.758,0:597:4:569:15466:98 . 1/1:-1460.72,-169.021,0:631:6:605:17421:181 0/1:-544.009,0,-652.134:718:355:330:9365:10361 . . 1/1:-869.043,-111.08,0:382:0:369:10330:0 0/1:-512.737,0,-775.465:710:385:302:8558:11537 1/1:-1152.01,-144.654,0:516:2:492:13860:46 1/1:-1554.01,-165.939,0:681:13:655:18693:400 . . 1/1:-1465.74,-170.298,0:623:5:602:17486:140 . . . . 0/1:-321.268,0,-333.744:374:180:183:5135:5300 . 1/1:-980.554,-125.193,0:430:1:417:11678:14 . 1/1:-1031.55,-111.158,0:468:9:443:12428:283 1/1:-1644.15,-198.172,0:718:5:692:19743:132 . 1/1:-1267.66,-155.276,0:555:4:540:15346:129 1/1:-679.002,-86.0946,0:294:0:286:7919:0 1/1:-915.563,-92.2777,0:402:9:380:11032:290 . 1/1:-1529.05,-181.292,0:661:5:632:18241:154 . 1/1:-1433.9,-156.54,0:626:11:601:17371:312 1/1:-1459.11,-172.225,0:635:5:614:17362:159 . . 1/1:-1354.36,-161.611,0:567:3:552:15863:86 1/1:-538.14,-65.502,0:261:5:243:6660:114 . . 1/1:-1516.6,-186,0:677:5:650:18260:127 . 1/1:-931.306,-103.322,0:421:7:400:11277:252 1/1:-687.982,-69.6098,0:323:9:303:8558:276 0/1:-1267.24,0,-1242.66:1362:635:704:19592:19516 1/1:-1237.83,-149.233,0:549:5:525:14931:154 0/1:-335.317,0,-424.812:461:226:218:5895:6653 1/1:-1333.79,-154.966,0:584:6:562:16148:181 1/1:-776.976,-94.2977,0:351:3:333:9287:77 . 1/1:-1159.16,-133.953,0:519:8:496:13844:210 1/1:-1499.52,-190.05,0:651:1:637:17953:27 1/1:-1182.84,-131.27,0:531:10:512:14320:322 1/1:-1387.91,-183.362,0:686:8:648:17347:159 0/1:-791.179,0,-935.739:974:489:456:12831:14596 1/1:-1286.11,-144.593,0:590:12:560:15512:313 . . . . . 0/1:-889.778,0,-1115.51:1097:562:502:14362:16881 . . 1/1:-957.572,-105.173,0:435:9:408:11672:276 1/1:-1076.92,-130.629,0:466:2:453:12857:72 1/1:-931.578,-106.936,0:410:6:392:11141:160 1/1:-1255.12,-154.56,0:548:2:530:14874:63 . . . . 0/1:-1007.74,0,-1124.81:1152:557:564:15914:17255 1/1:-2166.16,-256.451,0:934:12:903:25860:318 . . 1/1:-1172.97,-129.516,0:484:5:469:13754:149:5,469 1/1:-1176.15,-117.031,0:470:8:451:13945:250:8,451 . 1/1:-381.504,-30.7728,0:163:6:152:4606:190:6,152 . 1/1:-2439.04,-272.714,0:986:6:954:28667:185:6,954 1/1:-1024.66,-112.078,0:417:4:403:11948:118:4,403 . . . . . . . 1/1:-836.152,-85.3103,0:350:6:337:9908:203:6,337 1/1:-1915.28,-210.408,0:785:8:762:22544:254:8,762 1/1:-1137.63,-105.431,0:492:16:456:13546:414:16,456 . . . chrX 32383302 . C T 7998.83 . AB=0.459172;ABP=15.2451;AC=1;AF=0.5;AN=2;AO=388;CIGAR=1X;DP=845;DPB=845;DPRA=0;EPP=18.1434;EPPR=3.02978;GTI=0;LEN=1;MEANALT=3;MQM=40.6521;MQMR=40.6637;NS=1;NUMALT=1;ODDS=1841.8;PAIRED=0.979381;PAIREDR=0.955157;PAO=0;PQA=0;PQR=0;PRO=0;QA=12247;QR=14352;RO=446;RPL=179;RPP=8.04722;RPPR=4.95781;RPR=209;RUN=1;SAF=171;SAP=14.8527;SAR=217;SF=1;SRF=201;SRP=12.4362;SRR=245;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_004011:exon7:c.G837A:p.E279E,DMD:NM_004012:exon7:c.G828A:p.E276E,DMD:NM_000109:exon35:c.G4836A:p.E1612E,DMD:NM_004006:exon35:c.G4860A:p.E1620E,DMD:NM_004009:exon35:c.G4848A:p.E1616E,DMD:NM_004010:exon35:c.G4491A:p.E1497E;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0214;dpsi_zscore=0.144;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-810.22,0,-987.05:845:446:388:12247:14352:446,388 . . . . chrX 32408311 . T C 12318.83 . AB=0.439949;ABP=27.7859;AC=17;AF=0.5;AN=20;AO=348;CIGAR=1X;DP=7760;DPB=791;DPRA=0;EPP=121.842;EPPR=144.104;GTI=0;LEN=1;MEANALT=3;MQM=38.9598;MQMR=39.358;NS=1;NUMALT=1;ODDS=1273.84;PAIRED=0.954023;PAIREDR=0.949881;PAO=0;PQA=0;PQR=0;PRO=0;QA=9426;QR=12940;RO=419;RPL=188;RPP=7.90235;RPPR=7.36879;RPR=160;RUN=1;SAF=157;SAP=10.2236;SAR=191;SF=0,1;SRF=205;SRP=3.43008;SRR=214;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0534;esp6500siv2_ea=0.0779;esp6500siv2_all=0.0534;esp6500siv2_ea=0.0779;1000g2015aug_all=0.0336424;avsnp147=rs41303181;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=0.0623;ExAC_AFR=0.0094;ExAC_AMR=0.0519;ExAC_EAS=0.0002;ExAC_FIN=0.1233;ExAC_NFE=0.0806;ExAC_OTH=0.0860;ExAC_SAS=0.0437;CLNALLELEID=100517;CLNDN=Dilated_cardiomyopathy_3B|not_specified;CLNDISDB=MedGen:C3668940,OMIM:302045|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.3019;dpsi_zscore=2.060;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0613;gnomAD_exome_AFR=0.0087;gnomAD_exome_AMR=0.0494;gnomAD_exome_ASJ=0.0844;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.1173;gnomAD_exome_NFE=0.0740;gnomAD_exome_OTH=0.0764;gnomAD_exome_SAS=0.0401;gnomAD_genome_ALL=0.0624;gnomAD_genome_AFR=0.0096;gnomAD_genome_AMR=0.0480;gnomAD_genome_ASJ=0.1257;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1162;gnomAD_genome_NFE=0.0821;gnomAD_genome_OTH=0.0919;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . 0/1:-575.684,0,-870.03:791:419:348:9426:12940 . . . . . . . 1/1:-1254.47,-136.849,0:554:9:529:15024:285 . . . 1/1:-1584.48,-173.784,0:679:10:650:18770:292 . . . . . . . . . . . . . 1/1:-1054.66,-115.366,0:458:7:438:12616:222 . . . . 1/1:-1481.15,-164.54,0:663:13:634:17386:341 . . . . . . . . . . 0/1:-1263.95,0,-1662.78:1533:794:697:19966:24441 . . . . . . . . . . 1/1:-1426.65,-140.966,0:625:15:592:17048:481 . . . . . 0/1:-1057.39,0,-1341.67:1288:662:589:16501:20190 . . . . . . . . . . . . . . 1/1:-1558.35,-168.055,0:600:4:586:18141:113:4,586 . . . . . . . . . . . . . 1/1:-1422.64,-118.325,0:569:20:547:16913:593:20,547 . . . . . chrX 32430155 . C G 12084.60 . AB=0.479401;ABP=7.93068;AC=1;AF=0.5;AN=2;AO=640;CIGAR=1X;DP=1335;DPB=1335;DPRA=0;EPP=56.8764;EPPR=90.1803;GTI=0;LEN=1;MEANALT=3;MQM=40.0672;MQMR=40.6836;NS=1;NUMALT=1;ODDS=2782.59;PAIRED=0.989062;PAIREDR=0.986567;PAO=0;PQA=0;PQR=0;PRO=0;QA=18750;QR=19589;RO=670;RPL=293;RPP=12.9041;RPPR=8.19591;RPR=347;RUN=1;SAF=342;SAP=9.579;SAR=298;SF=0;SRF=364;SRP=13.913;SRR=306;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004012:exon1:c.G20C:p.R7P;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8708;dpsi_zscore=1.926;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1223.83,0,-1312.57:1335:670:640:18750:19589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32459449 . A G 4443.46 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=184;CIGAR=1X;DP=194;DPB=194;DPRA=0;EPP=27.9822;EPPR=3.44459;GTI=0;LEN=1;MEANALT=2;MQM=41.0598;MQMR=35.2;NS=1;NUMALT=1;ODDS=220.77;PAIRED=0.956522;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5310;QR=172;RO=5;RPL=76;RPP=15.095;RPPR=6.91895;RPR=108;RUN=1;SAF=69;SAP=27.9822;SAR=115;SF=0;SRF=1;SRP=6.91895;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0089;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0089;1000g2015aug_all=0.0010596;avsnp147=rs72468656;Kaviar_AF=0.0064682;Kaviar_AC=1000;Kaviar_AN=154602;ExAC_ALL=0.0067;ExAC_AFR=0.0011;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0060;ExAC_NFE=0.0104;ExAC_OTH=0.0112;ExAC_SAS=0.0029;CLNALLELEID=100507;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0055;dpsi_zscore=-0.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0064;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0111;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0072;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0067;gnomAD_genome_AFR=0.0020;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0059;gnomAD_genome_NFE=0.0107;gnomAD_genome_OTH=0.0084;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 1/1:-452.15,-44.147,0:194:5:184:5310:172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32466625 . G A 14631.30 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=583;CIGAR=1X;DP=607;DPB=607;DPRA=0;EPP=13.4728;EPPR=4.1599;GTI=0;LEN=1;MEANALT=3;MQM=39.4528;MQMR=41.7647;NS=1;NUMALT=1;ODDS=659.066;PAIRED=0.965695;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=17778;QR=542;RO=17;RPL=240;RPP=42.5251;RPPR=4.1599;RPR=343;RUN=1;SAF=369;SAP=92.4951;SAR=214;SF=0;SRF=13;SRP=13.3567;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon27:c.C3710T:p.T1237I,DMD:NM_004006:exon27:c.C3734T:p.T1245I,DMD:NM_004009:exon27:c.C3722T:p.T1241I,DMD:NM_004010:exon27:c.C3365T:p.T1122I;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0076;esp6500siv2_ea=0.0109;esp6500siv2_all=0.0076;esp6500siv2_ea=0.0109;1000g2015aug_all=0.00847682;avsnp147=rs1800269;Kaviar_AF=0.0132081;Kaviar_AC=2042;Kaviar_AN=154602;ExAC_ALL=0.0149;ExAC_AFR=0.0021;ExAC_AMR=0.0911;ExAC_EAS=0.0002;ExAC_FIN=0.0036;ExAC_NFE=0.0082;ExAC_OTH=0.0095;ExAC_SAS=0.0023;CLNALLELEID=100504;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.049;SIFT_pred=D;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.725;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.890;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=1.29;FATHMM_pred=T;PROVEAN_score=-1.73;PROVEAN_pred=N;VEST3_score=0.362;CADD_raw=1.559;CADD_phred=13.63;DANN_score=0.998;fathmm-MKL_coding_score=0.919;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.958;MetaSVM_pred=T;MetaLR_score=0.062;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=3.09;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.962;SiPhy_29way_logOdds=9.558;GDI_full_10282015=.;dpsi_max_tissue=-0.1776;dpsi_zscore=-0.641;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0189;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.0894;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0044;gnomAD_exome_NFE=0.0090;gnomAD_exome_OTH=0.0187;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0081;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0490;gnomAD_genome_ASJ=0.0053;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0105;gnomAD_genome_OTH=0.0069;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1478.23,-132.791,0:607:17:583:17778:542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32472763 . CTTTTTTTTTTTTTA CTTTTTTTTTTTTTTA,CTTTTTTTTTTTTA 426.65 . AB=0.310976;ABP=104.805;AC=64,2;AF=0.5;AN=132;AO=102;CIGAR=1M1I14M;DP=16646;DPB=346.867;DPRA=0;EPP=107.326;EPPR=39.2015;GTI=0;LEN=1;MEANALT=40;MQM=24.5784;MQMR=31.6852;NS=1;NUMALT=1;ODDS=108.311;PAIRED=0.960784;PAIREDR=0.962963;PAO=11.5;PQA=166;PQR=166;PRO=11.5;QA=2009;QR=1739;RO=54;RPL=86;RPP=107.326;RPPR=13.3047;RPR=16;RUN=1;SAF=90;SAP=132.532;SAR=12;SF=0;SRF=43;SRP=44.1879;SRR=11;TYPE=ins;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.3803;esp6500siv2_ea=0.4808;esp6500siv2_all=0.3803;esp6500siv2_ea=0.4808;1000g2015aug_all=0.464106;avsnp147=rs5902031;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;ExAC_ALL=0.4978;ExAC_AFR=0.2142;ExAC_AMR=0.5211;ExAC_EAS=0.5235;ExAC_FIN=0.6202;ExAC_NFE=0.5093;ExAC_OTH=0.5461;ExAC_SAS=0.5703;CLNALLELEID=193126;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4290;gnomAD_exome_AFR=0.2303;gnomAD_exome_AMR=0.4554;gnomAD_exome_ASJ=0.4264;gnomAD_exome_EAS=0.4593;gnomAD_exome_FIN=0.4691;gnomAD_exome_NFE=0.4423;gnomAD_exome_OTH=0.4308;gnomAD_exome_SAS=0.4395;gnomAD_genome_ALL=0.5453;gnomAD_genome_AFR=0.2239;gnomAD_genome_AMR=0.7074;gnomAD_genome_ASJ=0.6408;gnomAD_genome_EAS=0.7851;gnomAD_genome_FIN=0.6083;gnomAD_genome_NFE=0.6948;gnomAD_genome_OTH=0.7;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.1875;esp6500siv2_ea=0.1409;esp6500siv2_all=0.1875;esp6500siv2_ea=0.1409;1000g2015aug_all=.;avsnp147=rs745638361;Kaviar_AF=0.0006339;Kaviar_AC=98;Kaviar_AN=154602;ExAC_ALL=0.0677;ExAC_AFR=0.2193;ExAC_AMR=0.0525;ExAC_EAS=0.0519;ExAC_FIN=0.0191;ExAC_NFE=0.0578;ExAC_OTH=0.0480;ExAC_SAS=0.0412;CLNALLELEID=100499;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0892;gnomAD_exome_AFR=0.2464;gnomAD_exome_AMR=0.0747;gnomAD_exome_ASJ=0.0896;gnomAD_exome_EAS=0.0675;gnomAD_exome_FIN=0.0490;gnomAD_exome_NFE=0.0768;gnomAD_exome_OTH=0.0842;gnomAD_exome_SAS=0.0866;gnomAD_genome_ALL=0.0027;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0129;gnomAD_genome_ASJ=0.0141;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0215;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0045;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . 0/1:-103.188,0,-65.459,.,.,.:328:54:102,.:2009,.:1739 . 0/1:-46.3842,0,-52.482,.,.,.:163:36:50,.:931,.:1114 0/1:-75.7216,0,-38.2239,.,.,.:254:44:87,.:1588,.:1369 0/1:-64.7224,0,-228.786,.,.,.:518:148:109,.:2122,.:4659 0/1:-152.806,0,-72.5739,.,.,.:462:65:143,.:2913,.:2063 . 0/1:-64.6765,0,-20.2504,.,.,.:153:22:50,.:1125,.:704 0/1:-110.716,0,-40.797,.,.,.:290:39:100,.:1985,.:1232 0/1:-71.1395,0,-35.9071,.,.,.:211:30:69,.:1299,.:973 0/1:-124.085,0,-101.017,.,.,.:433:80:141,.:2567,.:2586 . . 0/1:-67.7667,0,-49.5754,.,.,.:233:38:74,.:1331,.:1227 0/1:-85.0543,0,-52.2902,.,.,.:269:46:103,.:1799,.:1442 . 0/1:-135.152,0,-61.1277,.,.,.:385:59:134,.:2602,.:1880 0/1:-81.5654,0,-69.1269,.,.,.:227:47:78,.:1558,.:1524 . 0/1:-49.8278,0,-31.3081,.,.,.:170:29:56,.:1047,.:931 0/1:-87.9344,0,-62.6289,.,.,.:268:49:89,.:1727,.:1580 0/1:-105.066,0,-92.0465,.,.,.:358:72:117,.:2245,.:2238 . 0/1:-81.3484,0,-55.7958,.,.,.:257:48:84,.:1645,.:1530 . . . 0/1:-63.0178,0,-31.6992,.,.,.:198:34:70,.:1241,.:1054 0/1:-80.416,0,-61.6123,.,.,.:271:51:84,.:1714,.:1619 0/1:-59.8491,0,-37.5106,.,.,.:192:33:57,.:1130,.:1035 0/1:-134.532,0,-66.8899,.,.,.:335:56:113,.:2419,.:1826 0/1:-87.8179,0,-86.6175,.,.,.:268:63:87,.:1747,.:1980 0/1:-10.6378,0,-8.72613,.,.,.:36:6:13,.:232,.:197 0/1:-74.062,0,-45.9681,.,.,.:243:41:84,.:1589,.:1305 0/1:-82.3819,0,-78.345,.,.,.:289:64:94,.:1761,.:2013 0/1:-14.1511,0,-13.6969,.,.,.:36:9:13,.:257,.:291 . 0/1:-62.9339,0,-63.4794,.,.,.:222:42:65,.:1268,.:1347 . . 0/1:-69.6963,0,-38.5289,.,.,.:161:31:59,.:1278,.:995 . 0/1:-92.4233,0,-54.1024,.,.,.:239:42:77,.:1635,.:1281 0/1:-102.383,0,-61.7264,.,.,.:369:63:115,.:2167,.:1993 0/1:-68.6025,0,-30.8801,.,.,.:218:30:74,.:1355,.:961 0/1:-79.5919,0,-35.2727,.,.,.:179:30:71,.:1418,.:958 0/1:-37.3515,0,-17.1138,.,.,.:130:19:42,.:787,.:610 0/1:-66.9899,0,-56.6038,.,.,.:217:37:62,.:1260,.:1185 . 0/1:-50.1482,0,-49.3742,.,.,.:190:36:53,.:1051,.:1174 . 0/1:-115.335,0,-52.3039,.,.,.:326:58:119,.:2330,.:1816 0/1:-68.1026,0,-59.3314,.,.,.:199:43:65,.:1320,.:1350 0/1:-56.7459,0,-22.582,.,.,.:184:26:57,.:1116,.:829 0/1:-70.399,0,-46.9495,.,.,.:202:37:68,.:1326,.:1152 0/1:-67.6957,0,-64.7451,.,.,.:203:47:69,.:1365,.:1528 . 0/1:-45.4864,0,-35.9526,.,.,.:152:26:43,.:883,.:840 0/1:-61.149,0,-37.5922,.,.,.:167:33:61,.:1226,.:1034 0/1:-164.871,0,-33.3188,.,.,.:392:50:158,.:2991,.:1553 0/1:-195.919,0,-88.8777,.,.,.:531:76:179,.:3577,.:2439 0/1:-55.8331,0,-25.3224,.,.,.:182:27:57,.:1126,.:840 0/1:-71.1462,0,-45.7935,.,.,.:210:42:70,.:1414,.:1346 0/1:-68.1548,0,-255.376,.,.,.:546:164:113,.:2213,.:5158 . 0/1:-86.7684,0,-71.0084,.,.,.:289:51:91,.:1702,.:1630 0/1:-99.0034,0,-49.0109,.,.,.:255:48:92,.:1874,.:1535 0/2:-32.5138,.,.,0,.,-126.277:176:70:.,37:.,851:2236 . 0/1:-82.1631,0,-40.6464,.,.,.:219:37:75,.:1591,.:1195 0/1:-102.845,0,-90.1056,.,.,.:287:59:92,.:1945,.:1902 0/1:-80.6378,0,-45.1168,.,.,.:246:41:82,.:1628,.:1310 . 0/1:-118.142,0,-83.0235,.,.,.:358:69:118,.:2368,.:2228 0/1:-102.714,0,-35.5287,.,.,.:219:36:84,.:1747,.:1142 . 0/1:-70.2514,0,-63.6868,.,.,.:279:52:88,.:1578,.:1695 . 0/1:-65.5413,0,-50.6292,.,.,.:180:35:60,.:1188,.:1116 0/1:-66.5769,0,-56.2456,.,.,.:249:45:84,.:1454,.:1417 . 0/2:-58.0381,.,.,0,.,-224.685:292:125:.,69:.,1653:4012 . . 0/1:-60.1503,0,-66.2035,.,.,.:200:45:59,.:1251,.:1459 0/1:-56.7431,0,-38.785,.,.,.:179:31:55,.:1110,.:1003 0/1:-108.065,0,-24.872,.,.,.:203:34:87,.:1856,.:1069 0/1:-42.2655,0,-33.6711,.,.,.:151:25:49,.:882,.:809 . . 0/1:-60.9959,0,-38.8008,.,.,.:175:31:54,.:1113,.:981 . 0/1:-105.617,0,-107.022,.,.,.:389:78:109,.:2178,.:2456 0/1:-53.968,0,-22.3935,.,.,.:234:34:74,.:1188,.:1074 . . . . . . . . . . . . . . . . . . . . . chrX 32482710 . T A 4936.94 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=218;CIGAR=1X;DP=230;DPB=230;DPRA=0;EPP=41.2999;EPPR=10.7656;GTI=0;LEN=1;MEANALT=3;MQM=39.9495;MQMR=41.4286;NS=1;NUMALT=1;ODDS=246.927;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6081;QR=225;RO=7;RPL=63;RPP=87.3192;RPPR=3.32051;RPR=155;RUN=1;SAF=141;SAP=43.8101;SAR=77;SF=0;SRF=4;SRP=3.32051;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon24:c.A3245T:p.Q1082L,DMD:NM_004006:exon24:c.A3269T:p.Q1090L,DMD:NM_004009:exon24:c.A3257T:p.Q1086L,DMD:NM_004010:exon24:c.A2900T:p.Q967L;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747239076;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=9.156e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=9.9e-05;CLNALLELEID=192979;CLNDN=Duchenne_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.24;MutationAssessor_pred=M;FATHMM_score=0.66;FATHMM_pred=T;PROVEAN_score=-4.26;PROVEAN_pred=D;VEST3_score=0.62;CADD_raw=4.932;CADD_phred=25.0;DANN_score=0.994;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.614;MetaSVM_pred=T;MetaLR_score=0.277;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.8;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.913;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=13.807;GDI_full_10282015=.;dpsi_max_tissue=0.3389;dpsi_zscore=0.945;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.725e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=4.611e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=9.445e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-511.753,-47.8407,0:230:7:218:6081:225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32486625 . C T 9668.17 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=399;CIGAR=1X;DP=413;DPB=413;DPRA=0;EPP=67.6701;EPPR=16.0391;GTI=0;LEN=1;MEANALT=3;MQM=39.604;MQMR=39;NS=1;NUMALT=1;ODDS=511.387;PAIRED=0.984962;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=11686;QR=155;RO=6;RPL=213;RPP=6.97773;RPPR=3.0103;RPR=186;RUN=1;SAF=292;SAP=189.273;SAR=107;SF=0;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon23:c.G3128A:p.R1043Q,DMD:NM_004006:exon23:c.G3152A:p.R1051Q,DMD:NM_004009:exon23:c.G3140A:p.R1047Q,DMD:NM_004010:exon23:c.G2783A:p.R928Q;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs761715369;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=6.335e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.341;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=0.159;LRT_pred=U;MutationTaster_score=0.996;MutationTaster_pred=N;MutationAssessor_score=-0.715;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=4.716;CADD_phred=24.6;DANN_score=0.993;fathmm-MKL_coding_score=0.642;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.034;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.0;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.955;SiPhy_29way_logOdds=3.336;GDI_full_10282015=.;dpsi_max_tissue=-0.3969;dpsi_zscore=-0.980;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.42e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.594e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . 1/1:-994.431,-108.13,0:413:6:399:11686:155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32486681 . G C 10409.90 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=416;CIGAR=1X;DP=431;DPB=431;DPRA=0;EPP=255.653;EPPR=10.8276;GTI=0;LEN=1;MEANALT=3;MQM=40.4808;MQMR=36.6;NS=1;NUMALT=1;ODDS=499.671;PAIRED=0.923077;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=12685;QR=312;RO=10;RPL=135;RPP=114.277;RPPR=6.48466;RPR=281;RUN=1;SAF=197;SAP=5.53672;SAR=219;SF=1;SRF=5;SRP=3.0103;SRR=5;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_000109:exon23:c.C3072G:p.L1024L,DMD:NM_004006:exon23:c.C3096G:p.L1032L,DMD:NM_004009:exon23:c.C3084G:p.L1028L,DMD:NM_004010:exon23:c.C2727G:p.L909L;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770148717;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=6.718e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0005;ExAC_FIN=0;ExAC_NFE=5.042e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=380046;CLNDN=Duchenne_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3114;dpsi_zscore=0.907;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.534e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.791e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=7.846e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.619e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=4.624e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=9.469e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1080.43,-103.557,0:431:10:416:12685:312:10,416 . . . . . . . . . . . . . chrX 32486703 . A G 5467.02 . AB=0.449254;ABP=17.9967;AC=1;AF=0.5;AN=2;AO=301;CIGAR=1X;DP=670;DPB=670;DPRA=0;EPP=33.4903;EPPR=59.9222;GTI=0;LEN=1;MEANALT=3;MQM=37.8106;MQMR=38.8635;NS=1;NUMALT=1;ODDS=1258.83;PAIRED=0.923588;PAIREDR=0.986072;PAO=0;PQA=0;PQR=0;PRO=0;QA=9359;QR=11264;RO=359;RPL=76;RPP=163.173;RPPR=110.005;RPR=225;RUN=1;SAF=106;SAP=60.1539;SAR=195;SF=0;SRF=102;SRP=148.33;SRR=257;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon23:c.T3050C:p.I1017T,DMD:NM_004006:exon23:c.T3074C:p.I1025T,DMD:NM_004009:exon23:c.T3062C:p.I1021T,DMD:NM_004010:exon23:c.T2705C:p.I902T;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs376163041;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.036;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.633;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=0.43;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_pred=D;VEST3_score=0.244;CADD_raw=0.522;CADD_phred=7.598;DANN_score=0.901;fathmm-MKL_coding_score=0.733;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.010;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.12;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=0.288;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=8.864;GDI_full_10282015=.;dpsi_max_tissue=0.0262;dpsi_zscore=0.175;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-580.379,0,-750.136:670:359:301:9359:11264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32486756 . C T 7669.70 . AB=0.473684;ABP=7.92468;AC=3;AF=0.5;AN=4;AO=387;CIGAR=1X;DP=1137;DPB=817;DPRA=0;EPP=93.5108;EPPR=105.793;GTI=0;LEN=1;MEANALT=3;MQM=39.9354;MQMR=39.6408;NS=1;NUMALT=1;ODDS=1725.92;PAIRED=0.940568;PAIREDR=0.943662;PAO=0;PQA=0;PQR=0;PRO=0;QA=12491;QR=13420;RO=426;RPL=308;RPP=297.259;RPPR=402.643;RPR=79;RUN=1;SAF=115;SAP=141.317;SAR=272;SF=0,1;SRF=131;SRP=140.109;SRR=295;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_000109:exon23:c.G2997A:p.S999S,DMD:NM_004006:exon23:c.G3021A:p.S1007S,DMD:NM_004009:exon23:c.G3009A:p.S1003S,DMD:NM_004010:exon23:c.G2652A:p.S884S;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0120;esp6500siv2_ea=0.0166;esp6500siv2_all=0.0120;esp6500siv2_ea=0.0166;1000g2015aug_all=0.00874172;avsnp147=rs1800268;Kaviar_AF=0.0130852;Kaviar_AC=2023;Kaviar_AN=154602;ExAC_ALL=0.0127;ExAC_AFR=0.0031;ExAC_AMR=0.0063;ExAC_EAS=0;ExAC_FIN=0.0029;ExAC_NFE=0.0190;ExAC_OTH=0.0097;ExAC_SAS=0.0101;CLNALLELEID=100448;CLNDN=Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6270;dpsi_zscore=-1.209;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0123;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.0097;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0202;gnomAD_exome_OTH=0.0127;gnomAD_exome_SAS=0.0105;gnomAD_genome_ALL=0.0103;gnomAD_genome_AFR=0.0039;gnomAD_genome_AMR=0.0049;gnomAD_genome_ASJ=0.0053;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0015;gnomAD_genome_NFE=0.0178;gnomAD_genome_OTH=0.0055;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-812.433,0,-900.82:817:426:387:12491:13420 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-890.198,-86.567,0:320:3:317:10314:108:3,317 . . . . . . chrX 32503114 . C T 11831.50 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=461;CIGAR=1X;DP=474;DPB=474;DPRA=0;EPP=24.1551;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.6551;MQMR=37.125;NS=1;NUMALT=1;ODDS=573.802;PAIRED=0.963124;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=14310;QR=243;RO=8;RPL=135;RPP=174.849;RPPR=7.35324;RPR=326;RUN=1;SAF=196;SAP=25.4363;SAR=265;SF=1;SRF=4;SRP=3.0103;SRR=4;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon21:c.G2701A:p.A901T,DMD:NM_004006:exon21:c.G2725A:p.A909T,DMD:NM_004009:exon21:c.G2713A:p.A905T,DMD:NM_004010:exon21:c.G2356A:p.A786T;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=404567;CLNDN=Duchenne_muscular_dystrophy;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.196;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=U;MutationTaster_score=0.995;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=0.7;FATHMM_pred=T;PROVEAN_score=-1.06;PROVEAN_pred=N;VEST3_score=0.404;CADD_raw=5.122;CADD_phred=25.4;DANN_score=0.999;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.897;MetaSVM_pred=T;MetaLR_score=0.198;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.14;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=17.735;GDI_full_10282015=.;dpsi_max_tissue=-0.0492;dpsi_zscore=-0.261;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1207.39,-120.667,0:474:8:461:14310:243:8,461 . . . . . . . . . . . . . . . . . . chrX 32503194 . T C 10658.79 . AB=0.495516;ABP=3.1661;AC=153;AF=0.5;AN=166;AO=442;CIGAR=1X;DP=44020;DPB=892;DPRA=0;EPP=14.3295;EPPR=3.09072;GTI=0;LEN=1;MEANALT=3;MQM=39.0882;MQMR=39.7569;NS=1;NUMALT=1;ODDS=1877.1;PAIRED=0.979638;PAIREDR=0.958333;PAO=0;PQA=0;PQR=0;PRO=0;QA=13051;QR=13089;RO=432;RPL=318;RPP=187.91;RPPR=176.909;RPR=124;RUN=1;SAF=167;SAP=60.3136;SAR=275;SF=0,1;SRF=179;SRP=30.5357;SRR=253;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon21:c.A2621G:p.D874G,DMD:NM_004006:exon21:c.A2645G:p.D882G,DMD:NM_004009:exon21:c.A2633G:p.D878G,DMD:NM_004010:exon21:c.A2276G:p.D759G;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.6502;esp6500siv2_ea=0.6629;esp6500siv2_all=0.6502;esp6500siv2_ea=0.6629;1000g2015aug_all=0.748344;avsnp147=rs228406;Kaviar_AF=0.0004528;Kaviar_AC=70;Kaviar_AN=154602;ExAC_ALL=0.7211;ExAC_AFR=0.6282;ExAC_AMR=0.8661;ExAC_EAS=0.8837;ExAC_FIN=0.8215;ExAC_NFE=0.6644;ExAC_OTH=0.7211;ExAC_SAS=0.7829;CLNALLELEID=177575;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.523;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.185;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_pred=N;VEST3_score=0.056;CADD_raw=0.631;CADD_phred=8.366;DANN_score=0.803;fathmm-MKL_coding_score=0.573;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=3.07;phyloP7way_vertebrate=-2.035;phyloP20way_mammalian=-0.288;phastCons7way_vertebrate=0.802;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=5.710;GDI_full_10282015=.;dpsi_max_tissue=-0.0637;dpsi_zscore=-0.323;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7295;gnomAD_exome_AFR=0.6262;gnomAD_exome_AMR=0.8538;gnomAD_exome_ASJ=0.6110;gnomAD_exome_EAS=0.8862;gnomAD_exome_FIN=0.8121;gnomAD_exome_NFE=0.6613;gnomAD_exome_OTH=0.7125;gnomAD_exome_SAS=0.7806;gnomAD_genome_ALL=0.6958;gnomAD_genome_AFR=0.6291;gnomAD_genome_AMR=0.8068;gnomAD_genome_ASJ=0.6243;gnomAD_genome_EAS=0.8869;gnomAD_genome_FIN=0.8215;gnomAD_genome_NFE=0.6750;gnomAD_genome_OTH=0.7336;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-848.368,0,-851.524:892:432:442:13051:13089 1/1:-1229.59,-126.571,0:509:9:485:14530:252 0/1:-892.616,0,-931.525:934:465:454:13563:14053 1/1:-827.363,-89.5237,0:326:2:312:9693:68 . 0/1:-1001.69,0,-944.316:1015:474:516:15114:14470 1/1:-2142.28,-240.122,0:865:6:844:25417:179 . 1/1:-915.053,-106.403,0:373:1:363:10936:36 1/1:-1247.71,-134.012,0:515:7:494:14824:210 1/1:-837.95,-97.064,0:347:2:335:9922:50 1/1:-2088.62,-242.049,0:854:4:824:24676:92 . . 1/1:-1074.4,-126.078,0:430:1:422:12576:14 1/1:-1389.11,-161.898,0:559:1:541:16283:14 . 1/1:-1989.61,-221.009,0:795:8:771:23305:170 . . 1/1:-893.34,-103.875,0:378:2:363:10551:68 1/1:-1293.88,-148.441,0:534:3:512:15003:95 1/1:-1266.1,-141.081,0:536:6:512:15096:168 . 1/1:-1244.98,-134.993,0:501:4:483:14654:131 0/1:-688.86,0,-566.05:705:300:384:10679:9093 . . 1/1:-833.606,-87.2346,0:357:7:339:9859:204 1/1:-1531.63,-173.721,0:618:3:599:17950:86 1/1:-981.726,-111.032,0:407:3:390:11591:82 1/1:-1474.31,-155.432,0:600:8:575:17477:231 1/1:-1301.92,-150.777,0:534:3:512:15253:49 1/1:-260.814,-30.6076,0:106:1:103:3106:32 1/1:-1236.71,-140.576,0:492:4:478:14325:69 1/1:-1267.73,-145.148,0:513:3:501:14841:86 1/1:-454.519,-55.0885,0:186:0:183:5311:0 . 1/1:-1024.82,-114.169,0:430:7:414:12259:147 0/1:-402.244,0,-331.923:376:164:203:6000:5083 1/1:-1409.23,-155.837,0:557:3:542:16460:93 1/1:-864.422,-95.5458,0:362:5:350:10308:140 . 1/1:-1108.81,-123.249,0:451:3:438:13079:108 1/1:-1565.8,-182.402,0:633:2:615:18509:46 1/1:-1167.31,-129.596,0:473:5:458:13863:112 1/1:-1143.21,-133.657,0:454:0:444:13280:0 1/1:-643.696,-72.6547,0:266:2:258:7547:63 1/1:-829.399,-84.2873,0:348:6:332:9896:203 . 1/1:-1197.85,-129.758,0:495:7:478:14095:182 0/1:-829.22,0,-832.891:876:420:434:12871:12905 1/1:-1477.22,-168.61,0:607:5:587:17368:108 1/1:-1009.7,-121.066,0:426:1:408:11900:36 1/1:-740.27,-85.044,0:303:1:291:8714:32 . . 1/1:-625.891,-69.0554,0:272:4:260:7659:118 . . 1/1:-1571.33,-188.244,0:668:3:639:18517:64 0/1:-1198.88,0,-1054.61:1146:533:590:17922:16416 1/1:-1032.43,-110.565,0:430:6:415:12322:182 1/1:-886.787,-96.3885,0:358:5:350:10558:158 0/1:-983.536,0,-1153.37:1091:557:513:15327:17474 . 1/1:-1149.85,-133.192,0:501:6:478:13692:142 1/1:-1235.74,-134.982,0:494:4:480:14599:122 1/1:-743.901,-84.2496,0:307:2:299:8772:72 . 1/1:-979.718,-102.321,0:407:6:390:11766:190 1/1:-1336.32,-150.136,0:548:4:528:15622:113 1/1:-1167.99,-122.322,0:483:9:463:13891:239 1/1:-1387.29,-168.91,0:637:7:596:16764:142 1/1:-1920.98,-228.125,0:782:1:761:22538:14 1/1:-1139.24,-120.559,0:477:8:463:13623:251 . . . 1/1:-980.805,-109.322,0:398:2:381:11601:68 1/1:-1074.68,-123.478,0:445:3:429:12532:86 0/1:-855.818,0,-922.663:922:461:441:13106:13959 . . . . 1/1:-801.018,-96.1565,0:346:2:335:9563:59 1/1:-1186.36,-143.026,0:493:1:475:14055:36 1/1:-609.75,-75.2575,0:255:0:250:7168:0 . . 1/1:-1038.99,-121.851,0:422:2:411:12093:28 0/1:-939.489,0,-993.358:989:484:479:14344:14840 1/1:-2016.8,-208.212,0:835:14:794:23963:396 1/1:-1136.87,-126.781,0:482:7:465:13451:187 . 1/1:-1173.44,-127.171,0:441:1:432:13548:36:1,432 1/1:-1223.53,-134.861,0:455:0:448:14229:0:0,448 1/1:-1287.37,-135.81,0:504:5:485:15018:132:5,485 1/1:-516.528,-34.8113,0:215:10:199:6273:330:10,199 . 0/1:-1053.84,0,-1111.88:1026:515:495:15655:16331:515,495 1/1:-1150.85,-127.637,0:429:0:424:13323:0:0,424 1/1:-1003.63,-105.01,0:381:3:370:11692:82:3,370 1/1:-891.843,-77.7098,0:353:10:338:10568:307:10,338 . . 1/1:-1065.58,-110.773,0:401:2:387:12347:72:2,387 0/1:-801.439,0,-868.164:824:416:395:12140:13000:416,395 1/1:-1067.86,-108.006,0:412:5:399:12604:154:5,399 1/1:-1248.18,-132.129,0:468:2:458:14611:72:2,458 0/1:-779.86,0,-805.584:775:388:376:11762:11987:388,376 1/1:-1073.77,-109.96,0:398:3:393:12529:104:3,393 . 1/1:-1129.51,-107.227,0:420:6:411:13347:207:6,411 1/1:-1029.67,-106.957,0:392:3:384:12032:108:3,384 chrX 32519981 . G A 6202.70 . AB=0.481424;ABP=4.94647;AC=1;AF=0.5;AN=2;AO=311;CIGAR=1X;DP=646;DPB=646;DPRA=0;EPP=3.85515;EPPR=3.03779;GTI=0;LEN=1;MEANALT=3;MQM=40.1865;MQMR=40.6013;NS=1;NUMALT=1;ODDS=1428.22;PAIRED=0.987138;PAIREDR=0.987342;PAO=0;PQA=0;PQR=0;PRO=0;QA=9498;QR=9539;RO=316;RPL=203;RPP=66.0249;RPPR=77.3351;RPR=108;RUN=1;SAF=145;SAP=6.08946;SAR=166;SF=0;SRF=157;SRP=3.03779;SRR=159;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2638;dpsi_zscore=1.668;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . 0/1:-634.583,0,-638.316:646:316:311:9498:9539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32563263 . A G 3114.12 . AB=0.516447;ABP=3.7246;AC=64;AF=0.5;AN=82;AO=157;CIGAR=1X;DP=8338;DPB=304;DPRA=0;EPP=9.10979;EPPR=10.3089;GTI=0;LEN=1;MEANALT=3;MQM=39.1592;MQMR=38.4375;NS=1;NUMALT=1;ODDS=577.014;PAIRED=0.993631;PAIREDR=0.979167;PAO=0;PQA=0;PQR=0;PRO=0;QA=4393;QR=4290;RO=144;RPL=59;RPP=24.0473;RPPR=14.8328;RPR=98;RUN=1;SAF=113;SAP=68.8599;SAR=44;SF=0,1;SRF=103;SRP=60.9765;SRR=41;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.3247;esp6500siv2_ea=0.2398;esp6500siv2_all=0.3247;esp6500siv2_ea=0.2398;1000g2015aug_all=0.412185;avsnp147=rs228373;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;ExAC_ALL=0.3203;ExAC_AFR=0.4798;ExAC_AMR=0.4070;ExAC_EAS=0.5509;ExAC_FIN=0.2852;ExAC_NFE=0.2441;ExAC_OTH=0.3113;ExAC_SAS=0.3209;CLNALLELEID=100395;CLNDN=Dilated_cardiomyopathy_3B|not_specified;CLNDISDB=MedGen:C3668940,OMIM:302045|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0524;dpsi_zscore=-0.276;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3112;gnomAD_exome_AFR=0.4736;gnomAD_exome_AMR=0.3986;gnomAD_exome_ASJ=0.2751;gnomAD_exome_EAS=0.5395;gnomAD_exome_FIN=0.2773;gnomAD_exome_NFE=0.2317;gnomAD_exome_OTH=0.2921;gnomAD_exome_SAS=0.3064;gnomAD_genome_ALL=0.3193;gnomAD_genome_AFR=0.4698;gnomAD_genome_AMR=0.4092;gnomAD_genome_ASJ=0.2742;gnomAD_genome_EAS=0.5252;gnomAD_genome_FIN=0.2816;gnomAD_genome_NFE=0.2242;gnomAD_genome_OTH=0.2640;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-288.108,0,-264.743:304:144:157:4393:4290 . 0/1:-262.22,0,-332.904:331:176:146:4205:5085 1/1:-277.443,-34.0164,0:114:0:113:3298:0 . 0/1:-334.162,0,-472.351:435:238:185:5283:7029 . 1/1:-302.51,-24.4111,0:142:6:135:3756:203 . . . 0/1:-251.124,0,-347.471:341:185:148:4060:5322 0/1:-221.241,0,-291.652:300:157:137:3672:4585 1/1:-277.144,-26.8128,0:132:5:124:3407:136 . 1/1:-443.442,-56.5936,0:196:0:188:5233:0 . . 1/1:-366.133,-42.7463,0:148:0:142:4202:0 1/1:-235.905,-24.7534,0:101:2:95:2763:50 . 1/1:-487.92,-61.1091,0:205:0:203:5813:0 0/1:-190.59,0,-206.922:217:109:107:3044:3219 . . . 1/1:-365.458,-33.9774,0:156:4:149:4393:136 1/1:-415.456,-50.7073,0:185:3:178:4862:42 . 0/1:-151.05,0,-179.488:182:93:83:2380:2731 . . . . . . . . . . . 1/1:-358.294,-43.3483,0:147:0:144:4208:0 1/1:-369.151,-42.4029,0:149:1:147:4351:32 . 1/1:-539.319,-65.7895,0:235:2:227:6290:35 . . 1/1:-256.751,-25.0102,0:112:4:108:3104:96 1/1:-377.055,-41.6565,0:149:1:147:4374:32 . . 0/1:-244.749,0,-300.026:312:159:150:3963:4641 . . . . . . . 1/1:-286.68,-36.9714,0:128:1:126:3456:14 0/1:-220.793,0,-155.963:215:86:121:3400:2595 0/1:-350.906,0,-461.638:431:225:197:5516:6767 1/1:-335.449,-42.1442,0:143:0:140:3946:0 . . . 0/1:-184.723,0,-160.874:207:91:109:2870:2628 . . . . . . 0/1:-172.704,0,-142.016:195:87:105:2737:2379 0/1:-246.681,0,-304.128:286:153:126:3786:4490 . . 1/1:-503.69,-52.3693,0:238:6:225:6129:199 . . . 0/1:-342.313,0,-236.373:309:129:175:5150:3862 1/1:-423.25,-49.8826,0:189:2:185:4970:72 . . . . . . . . . . . 1/1:-394.747,-47.4039,0:173:1:166:4750:32 . 1/1:-433.436,-44.3702,0:162:1:157:4977:36:1,157 . . 0/0:0,-13.4312,-232.623:94:89:5:166:2820:89,5 0/0:0,-20.3032,-332.593:140:130:8:239:4176:130,8 . . 1/1:-425.12,-38.2005,0:170:4:163:5078:136:4,163 . 1/1:-428.57,-48.4449,0:170:2:167:5017:28:2,167 1/1:-449.092,-32.3025,0:180:8:171:5428:243:8,171 . . . . . 1/1:-396.798,-37.2322,0:162:4:156:4717:131:4,156 . 1/1:-400.012,-42.233,0:153:1:150:4626:36:1,150 . chrX 32591931 . T C 8643.31 . AB=0;ABP=0;AC=34;AF=1;AN=40;AO=697;CIGAR=1X;DP=9564;DPB=727;DPRA=0;EPP=12.4346;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=38.67;MQMR=42;NS=1;NUMALT=1;ODDS=914.426;PAIRED=0.968436;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20534;QR=168;RO=6;RPL=326;RPP=9.3191;RPPR=3.0103;RPR=371;RUN=1;SAF=320;SAP=13.1324;SAR=377;SF=0,1;SRF=2;SRP=4.45795;SRR=4;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_000109:exon14:c.A1611G:p.R537R,DMD:NM_004006:exon14:c.A1635G:p.R545R,DMD:NM_004009:exon14:c.A1623G:p.R541R,DMD:NM_004010:exon14:c.A1266G:p.R422R;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.1335;esp6500siv2_ea=0.1225;esp6500siv2_all=0.1335;esp6500siv2_ea=0.1225;1000g2015aug_all=0.110464;avsnp147=rs5927083;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=0.1165;ExAC_AFR=0.1656;ExAC_AMR=0.0405;ExAC_EAS=0.0222;ExAC_FIN=0.1147;ExAC_NFE=0.1329;ExAC_OTH=0.1041;ExAC_SAS=0.1332;CLNALLELEID=100376;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1331;dpsi_zscore=-1.546;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS081890#"Muscular_dystrophy_Becker";gnomAD_exome_ALL=0.1069;gnomAD_exome_AFR=0.1593;gnomAD_exome_AMR=0.0453;gnomAD_exome_ASJ=0.1544;gnomAD_exome_EAS=0.0187;gnomAD_exome_FIN=0.0987;gnomAD_exome_NFE=0.1272;gnomAD_exome_OTH=0.1130;gnomAD_exome_SAS=0.1214;gnomAD_genome_ALL=0.1241;gnomAD_genome_AFR=0.1634;gnomAD_genome_AMR=0.0583;gnomAD_genome_ASJ=0.0914;gnomAD_genome_EAS=0.0134;gnomAD_genome_FIN=0.0885;gnomAD_genome_NFE=0.1269;gnomAD_genome_OTH=0.1169;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1725.25,-196.78,0:727:6:697:20534:168 . . . . . . . . . . 0/1:-760.205,0,-706.78:761:349:392:11637:10861 . . . . . . 1/1:-1013.24,-108.268,0:419:6:407:12090:181 . . . . . . . . 1/1:-1107.63,-117.891,0:479:11:455:13230:304 . 0/1:-620.672,0,-556.059:611:280:327:9379:8600 . . . . 1/1:-1037.27,-112.34,0:447:7:425:12383:226 . . . . . . 1/1:-846.749,-80.3537,0:371:13:347:10208:317 . . . . . . . . . . . . . . . 1/1:-666.294,-59.8693,0:298:12:280:8290:336 . 1/1:-916.373,-96.6764,0:378:5:364:10937:172 . . 1/1:-876.838,-93.5215,0:359:5:343:10568:127 . . . . . . . . 1/1:-1122.89,-129.403,0:469:5:449:13179:110 . 0/1:-417.462,0,-450.685:504:250:243:6830:7262 0/1:-772.461,0,-647.892:739:325:397:11746:10282 . . . . . 1/1:-975.083,-110.922,0:391:1:378:11530:36 . . 1/1:-781.788,-70.5168,0:357:15:327:9614:409 1/1:-699.217,-42.852,0:339:21:303:8910:665 . . . . . . . . . . . 1/1:-852.653,-76.2897,0:335:9:319:10065:254:9,319 . . . . . . 1/1:-843.065,-77.9542,0:333:8:320:9917:235:8,320 . . . . 0/1:-628.524,0,-641.435:602:295:295:9408:9584:295,295 . . 0/1:-656.241,0,-691.91:645:321:310:9800:10228:321,310 . . . . chrX 32613880 . T A 9162.15 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=421;CIGAR=1X;DP=437;DPB=437;DPRA=0;EPP=22.2028;EPPR=8.59409;GTI=0;LEN=1;MEANALT=2;MQM=41.1354;MQMR=41.7143;NS=1;NUMALT=1;ODDS=482.241;PAIRED=0.973872;PAIREDR=0.928571;PAO=0;PQA=0;PQR=0;PRO=0;QA=11138;QR=357;RO=14;RPL=323;RPP=264.129;RPPR=3.63072;RPR=98;RUN=1;SAF=227;SAP=8.62724;SAR=194;SF=0;SRF=10;SRP=8.59409;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon13:c.A1572T:p.Q524H,DMD:NM_004006:exon13:c.A1596T:p.Q532H,DMD:NM_004009:exon13:c.A1584T:p.Q528H,DMD:NM_004010:exon13:c.A1227T:p.Q409H;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.958;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.873;MutationTaster_pred=N;MutationAssessor_score=2.05;MutationAssessor_pred=M;FATHMM_score=0.69;FATHMM_pred=T;PROVEAN_score=-2.94;PROVEAN_pred=D;VEST3_score=0.437;CADD_raw=3.637;CADD_phred=23.2;DANN_score=0.994;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.679;MetaSVM_pred=T;MetaLR_score=0.222;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=-3.54;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=0.113;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=13.483;GDI_full_10282015=.;dpsi_max_tissue=-0.6562;dpsi_zscore=-1.234;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-947.214,-99.2284,0:437:14:421:11138:357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32632565 . T C 12177.60 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=526;CIGAR=1X;DP=552;DPB=552;DPRA=0;EPP=58.5604;EPPR=10.7656;GTI=0;LEN=1;MEANALT=3;MQM=40.2243;MQMR=39.1429;NS=1;NUMALT=1;ODDS=679.708;PAIRED=0.994297;PAIREDR=0.571429;PAO=0;PQA=0;PQR=0;PRO=0;QA=14682;QR=174;RO=7;RPL=334;RPP=86.2528;RPPR=3.32051;RPR=192;RUN=1;SAF=155;SAP=195.619;SAR=371;SF=0;SRF=3;SRP=3.32051;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon12:c.A1313G:p.H438R,DMD:NM_004006:exon12:c.A1337G:p.H446R,DMD:NM_004009:exon12:c.A1325G:p.H442R,DMD:NM_004010:exon12:c.A968G:p.H323R;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=9.5e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=9.5e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs72468699;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=100361;CLNDN=Primary_dilated_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.995;MutationTaster_pred=D;MutationAssessor_score=2.67;MutationAssessor_pred=M;FATHMM_score=0.76;FATHMM_pred=T;PROVEAN_score=-4.91;PROVEAN_pred=D;VEST3_score=0.776;CADD_raw=4.518;CADD_phred=24.3;DANN_score=0.997;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.331;MetaSVM_pred=T;MetaLR_score=0.323;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.62;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.876;GDI_full_10282015=.;dpsi_max_tissue=0.0973;dpsi_zscore=0.475;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM177523#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=5.345e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0019;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0028;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1253.55,-145.723,0:552:7:526:14682:174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32663135 . T G 11750.40 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=509;CIGAR=1X;DP=535;DPB=535;DPRA=0;EPP=18.8847;EPPR=17.6895;GTI=0;LEN=1;MEANALT=2;MQM=39.7544;MQMR=39.44;NS=1;NUMALT=1;ODDS=547.171;PAIRED=0.97446;PAIREDR=0.96;PAO=0;PQA=0;PQR=0;PRO=0;QA=14170;QR=547;RO=25;RPL=223;RPP=19.9427;RPPR=3.79203;RPR=286;RUN=1;SAF=273;SAP=8.85066;SAR=236;SF=0;SRF=16;SRP=7.26639;SRR=9;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon10:c.A1071C:p.Q357H,DMD:NM_004006:exon10:c.A1095C:p.Q365H,DMD:NM_004009:exon10:c.A1083C:p.Q361H,DMD:NM_004010:exon10:c.A726C:p.Q242H;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0009;1000g2015aug_all=.;avsnp147=rs1800266;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0002;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0032;ExAC_SAS=0.0018;CLNALLELEID=266724;CLNDN=Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=2.35;MutationAssessor_pred=M;FATHMM_score=0.69;FATHMM_pred=T;PROVEAN_score=-2.68;PROVEAN_pred=D;VEST3_score=0.652;CADD_raw=4.306;CADD_phred=24.0;DANN_score=0.993;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.665;MetaSVM_pred=T;MetaLR_score=0.255;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=0.443;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.141;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.100;GDI_full_10282015=.;dpsi_max_tissue=-0.1998;dpsi_zscore=-0.687;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0014;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1178.89,-113.264,0:535:25:509:14170:547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32716132 . GG TC 1860.86 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=74;CIGAR=2X;DP=234;DPB=84.5;DPRA=0;EPP=3.12768;EPPR=0;GTI=0;LEN=2;MEANALT=4;MQM=36.2297;MQMR=0;NS=1;NUMALT=1;ODDS=107.884;PAIRED=0.918919;PAIREDR=0;PAO=1;PQA=14;PQR=0;PRO=0;QA=1863;QR=0;RO=0;RPL=60;RPP=65.1027;RPPR=0;RPR=14;RUN=1;SAF=30;SAP=8.76177;SAR=44;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=mnp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . 1/1:-155.803,-22.5773,0:84:0:74:1863:0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-394.92,-44.8535,0:150:0:145:4479:0:0,145 . . . . . . . . chrX 32717331 . C A 10583.00 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=415;CIGAR=1X;DP=426;DPB=426;DPRA=0;EPP=39.0567;EPPR=3.44459;GTI=0;LEN=1;MEANALT=2;MQM=39.988;MQMR=38.2;NS=1;NUMALT=1;ODDS=539.74;PAIRED=0.978313;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=12465;QR=127;RO=5;RPL=213;RPP=3.64343;RPPR=3.44459;RPR=202;RUN=1;SAF=177;SAP=22.4803;SAR=238;SF=0;SRF=1;SRP=6.91895;SRR=4;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_000109:exon8:c.G705T:p.V235V,DMD:NM_004006:exon8:c.G729T:p.V243V,DMD:NM_004009:exon8:c.G717T:p.V239V,DMD:NM_004010:exon8:c.G360T:p.V120V;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.3162;dpsi_zscore=-1.634;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 1/1:-1066.34,-115.184,0:426:5:415:12465:127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 32867945 . TAAAAAAAATACACT TAAAAAAAAATACACT 4659.71 . AB=0.395659;ABP=59.6535;AC=31;AF=0.5;AN=44;AO=237;CIGAR=1M1I9M;DP=11082;DPB=625.3;DPRA=0;EPP=5.65821;EPPR=7.62639;GTI=0;LEN=1;MEANALT=34;MQM=39.4177;MQMR=40.6447;NS=1;NUMALT=1;ODDS=843.702;PAIRED=0.974684;PAIREDR=0.984277;PAO=1;PQA=28;PQR=28;PRO=1;QA=6219;QR=10068;RO=318;RPL=111;RPP=5.07182;RPPR=11.8601;RPR=126;RUN=1;SAF=134;SAP=11.8153;SAR=103;SF=0,1;SRF=161;SRP=3.11956;SRR=157;TYPE=ins;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0937;esp6500siv2_ea=0.1180;esp6500siv2_all=0.0937;esp6500siv2_ea=0.1180;1000g2015aug_all=0.0762914;avsnp147=rs3834997;Kaviar_AF=0.0020957;Kaviar_AC=324;Kaviar_AN=154602;ExAC_ALL=0.0963;ExAC_AFR=0.0464;ExAC_AMR=0.0477;ExAC_EAS=0.1308;ExAC_FIN=0.0874;ExAC_NFE=0.1149;ExAC_OTH=0.1174;ExAC_SAS=0.0753;CLNALLELEID=100744;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0919;gnomAD_exome_AFR=0.0437;gnomAD_exome_AMR=0.0482;gnomAD_exome_ASJ=0.1616;gnomAD_exome_EAS=0.1322;gnomAD_exome_FIN=0.0840;gnomAD_exome_NFE=0.1074;gnomAD_exome_OTH=0.1050;gnomAD_exome_SAS=0.0682;gnomAD_genome_ALL=0.0917;gnomAD_genome_AFR=0.0470;gnomAD_genome_AMR=0.0527;gnomAD_genome_ASJ=0.1364;gnomAD_genome_EAS=0.1495;gnomAD_genome_FIN=0.0849;gnomAD_genome_NFE=0.1141;gnomAD_genome_OTH=0.0943;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1.5 GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-707.78:599:318:237:6219:10068 . . . . 0/1:.,.,-718.938:752:340:356:9150:10903 0/1:.,.,-635.373:593:286:252:6465:9182 . 1/1:.,.,0:302:21:258:6643:687 . . 0/1:.,.,-690.966:647:314:276:6944:10038 0/1:.,.,-717.898:603:317:226:5795:10181 . . . 1/1:.,.,0:242:9:215:5549:274 . . . . . . . . . . . . 0/1:.,.,-404.689:415:185:190:5069:5997 . . . . . 1/1:.,.,0:387:20:334:8773:645 . . . . . . . . . . . . . . . 0/1:.,.,-751.424:709:342:296:7358:10893 . 1/1:.,.,0:335:23:280:7374:736 . . . . . . . . 1/1:.,.,0:251:10:225:5448:321 . . . . . . . . . . 0/1:.,.,-566.204:525:267:214:4858:8232 . . . . . . . 0/1:.,.,-833.706:756:378:319:8203:12053 . 1/1:.,.,0:357:19:309:8096:609 . . . . . . . . 0/1:.,.,-823.273:734:371:304:7871:11990 0/1:.,.,-750.132:577:324:206:5363:10511 . . 1/1:-462.542,-35.9375,0:268:14:219:5672:433:14,219 . . . . . . . . . 1/1:-621.172,-56.9701,0:328:12:280:7434:394:12,280 1/1:-583.665,-45.8737,0:332:16:268:7142:525:16,268 0/1:-424.857,0,-683.28:637:300:265:6805:9756:300,265 . . 0/1:-468.704,0,-773.768:733:342:290:7531:11060:342,290 . . . . chrX 100653950 . T C 3001.54 . AB=0;ABP=0;AC=15;AF=1;AN=16;AO=140;CIGAR=1X;DP=1330;DPB=156;DPRA=0;EPP=13.4954;EPPR=3.20771;GTI=0;LEN=1;MEANALT=3;MQM=39.7786;MQMR=41.8182;NS=1;NUMALT=1;ODDS=114.417;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4317;QR=358;RO=11;RPL=86;RPP=18.8931;RPPR=3.20771;RPR=54;RUN=1;SAF=5;SAP=265.138;SAR=135;SF=0,1;SRF=0;SRP=26.8965;SRR=11;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GLA,RPL36A-HNRNPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq22.1;genomicSuperDups=.;esp6500siv2_all=0.1307;esp6500siv2_ea=0.1205;esp6500siv2_all=0.1307;esp6500siv2_ea=0.1205;1000g2015aug_all=0.16106;avsnp147=rs2071397;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=0.1447;ExAC_AFR=0.1519;ExAC_AMR=0.1389;ExAC_EAS=0.0774;ExAC_FIN=0.0930;ExAC_NFE=0.1191;ExAC_OTH=0.1106;ExAC_SAS=0.3350;CLNALLELEID=98467;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2170;dpsi_zscore=0.755;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1419;gnomAD_exome_AFR=0.1519;gnomAD_exome_AMR=0.1361;gnomAD_exome_ASJ=0.1253;gnomAD_exome_EAS=0.0844;gnomAD_exome_FIN=0.0922;gnomAD_exome_NFE=0.1202;gnomAD_exome_OTH=0.1289;gnomAD_exome_SAS=0.3242;gnomAD_genome_ALL=0.1234;gnomAD_genome_AFR=0.1412;gnomAD_genome_AMR=0.1361;gnomAD_genome_ASJ=0.1223;gnomAD_genome_EAS=0.0890;gnomAD_genome_FIN=0.0995;gnomAD_genome_NFE=0.1226;gnomAD_genome_OTH=0.1151;Whole_Blood=Whole_Blood::0.123641::-0.265994;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . 1/1:-338.58,-13.8362,0:156:11:140:4317:358 . . . . . . . . . . . . . . . . . . . 1/1:-395.663,-40.3153,0:169:4:160:4685:110 . . . . . . . . . . . . . . . . . . 1/1:-344.305,-34.5111,0:147:3:141:4180:99 . . . . . . . . 1/1:-304.045,-29.5462,0:131:3:126:3774:104 . . . 1/1:-360.048,-34.9637,0:163:4:154:4364:144 . . . . . . . . . . . . . . 0/1:-254.189,0,-251.211:251:120:127:3908:3844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-397.763,-16.7555,0:180:12:163:5082:407:12,163 . . . . . . . . . . . 1/1:-340.049,-27.1834,0:133:5:127:4055:141:5,127 chrX 100662901 . G A 4592.59 . AB=0;ABP=0;AC=5;AF=1;AN=6;AO=257;CIGAR=1X;DP=1131;DPB=284;DPRA=0;EPP=61.2176;EPPR=24.725;GTI=0;LEN=1;MEANALT=3;MQM=35.7198;MQMR=33.9;NS=1;NUMALT=1;ODDS=309.812;PAIRED=0.949416;PAIREDR=0.9;PAO=0;PQA=0;PQR=0;PRO=0;QA=6457;QR=198;RO=10;RPL=187;RPP=118.673;RPPR=6.48466;RPR=70;RUN=1;SAF=108;SAP=17.2136;SAR=149;SF=0,1;SRF=3;SRP=6.48466;SRR=7;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=GLA;GeneDetail.refGene=NM_000169:c.-10C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq22.1;genomicSuperDups=.;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0605;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0605;1000g2015aug_all=0.124503;avsnp147=rs2071225;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=0.0955;ExAC_AFR=0.0688;ExAC_AMR=0.1213;ExAC_EAS=0.0718;ExAC_FIN=0.0647;ExAC_NFE=0.0594;ExAC_OTH=0.0759;ExAC_SAS=0.2936;CLNALLELEID=44944;CLNDN=Fabry_disease|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED_CT:16652001|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CR088476#"Reduced_activity";gnomAD_exome_ALL=0.0940;gnomAD_exome_AFR=0.0675;gnomAD_exome_AMR=0.1165;gnomAD_exome_ASJ=0.0509;gnomAD_exome_EAS=0.0761;gnomAD_exome_FIN=0.0636;gnomAD_exome_NFE=0.0593;gnomAD_exome_OTH=0.0780;gnomAD_exome_SAS=0.2824;gnomAD_genome_ALL=0.0654;gnomAD_genome_AFR=0.0627;gnomAD_genome_AMR=0.1;gnomAD_genome_ASJ=0.0376;gnomAD_genome_EAS=0.0750;gnomAD_genome_FIN=0.0712;gnomAD_genome_NFE=0.0609;gnomAD_genome_OTH=0.0956;Whole_Blood=Whole_Blood::0.0679348::-0.714128;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-510.491,-64.9332,0:284:10:257:6457:198 . . . . . . . . . . . . . . 0/1:-306.316,0,-483.272:503:269:221:5575:8106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-825.45,-81.0615,0:344:9:334:9862:249:9,334 . . . . . . . . . . . . chrX 100662903 . C T,A 3598.93 . AB=0.386581;ABP=37.9828;AC=10,0;AF=0.5;AN=14;AO=121;CIGAR=1X;DP=2122;DPB=313;DPRA=0;EPP=18.1029;EPPR=17.6046;GTI=0;LEN=1;MEANALT=3;MQM=35.157;MQMR=34.4244;NS=1;NUMALT=1;ODDS=360.149;PAIRED=0.983471;PAIREDR=0.831395;PAO=0;PQA=0;PQR=0;PRO=0;QA=3158;QR=4691;RO=172;RPL=81;RPP=33.1776;RPPR=83.8093;RPR=40;RUN=1;SAF=49;SAP=12.5038;SAR=72;SF=0,1;SRF=77;SRP=7.10075;SRR=95;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=GLA;GeneDetail.refGene=NM_000169:c.-12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq22.1;genomicSuperDups=.;esp6500siv2_all=0.0717;esp6500siv2_ea=0.0303;esp6500siv2_all=0.0717;esp6500siv2_ea=0.0303;1000g2015aug_all=0.0988079;avsnp147=rs3027585;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=0.0611;ExAC_AFR=0.1425;ExAC_AMR=0.1378;ExAC_EAS=0.0407;ExAC_FIN=0.0086;ExAC_NFE=0.0279;ExAC_OTH=0.0403;ExAC_SAS=0.1169;CLNALLELEID=51619;CLNDN=Fabry_disease|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED_CT:16652001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0603;gnomAD_exome_AFR=0.1405;gnomAD_exome_AMR=0.1341;gnomAD_exome_ASJ=0.0125;gnomAD_exome_EAS=0.0398;gnomAD_exome_FIN=0.0102;gnomAD_exome_NFE=0.0288;gnomAD_exome_OTH=0.0535;gnomAD_exome_SAS=0.1144;gnomAD_genome_ALL=0.0606;gnomAD_genome_AFR=0.1507;gnomAD_genome_AMR=0.1465;gnomAD_genome_ASJ=0.0054;gnomAD_genome_EAS=0.0284;gnomAD_genome_FIN=0.0098;gnomAD_genome_NFE=0.0239;gnomAD_genome_OTH=0.0399;Whole_Blood=Whole_Blood::0.0490463::-0.498938;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=GLA;GeneDetail.refGene=NM_000169:c.-12G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq22.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . 0/1:-170.604,0,-278.783,.,.,.:313:172:121,.:3158,.:4691 . . . . . . . . . 1/1:-547.294,-53.0896,0,.,.,.:328:16:281,.:7008,.:471 . . . . . . . . . . . . . . 1/1:-252.885,-32.9032,0,.,.,.:149:5:131,.:3252,.:92 . . . . . . . . . . . . . . . . . 1/1:-526.786,-70.0055,0,.,.,.:295:5:266,.:6675,.:139 . . . . 1/1:-522.387,-67.4554,0,.,.,.:299:7:272,.:6713,.:199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,.,.,-52.294,.,-580.317:247:231:.,13:.,286:7124:231,13 . . . . . . . 0/1:-479.897,0,-481.039,.,.,.:491:239:240,.:7214,.:7259:239,240 . . . . . . . chrX 108868153 . G A 5640.57 . AB=0.485714;ABP=4.25114;AC=33;AF=0.5;AN=40;AO=340;CIGAR=1X;DP=10181;DPB=700;DPRA=0;EPP=23.0389;EPPR=16.1744;GTI=0;LEN=1;MEANALT=3;MQM=31.2618;MQMR=32.7508;NS=1;NUMALT=1;ODDS=972.068;PAIRED=0.932353;PAIREDR=0.885246;PAO=0;PQA=0;PQR=0;PRO=0;QA=8549;QR=8797;RO=305;RPL=192;RPP=15.3749;RPPR=8.20047;RPR=148;RUN=1;SAF=158;SAP=6.68903;SAR=182;SF=0,1;SRF=145;SRP=4.61221;SRR=160;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE5:NM_012282:exon1:c.C97T:p.P33S;cytoBand=Xq23;genomicSuperDups=.;esp6500siv2_all=0.0968;esp6500siv2_ea=0.1424;esp6500siv2_all=0.0968;esp6500siv2_ea=0.1424;1000g2015aug_all=0.0519205;avsnp147=rs17003955;Kaviar_AF=0.0867841;Kaviar_AC=13417;Kaviar_AN=154602;ExAC_ALL=0.1248;ExAC_AFR=0.0241;ExAC_AMR=0.0527;ExAC_EAS=0.0005;ExAC_FIN=0.1572;ExAC_NFE=0.1836;ExAC_OTH=0.1616;ExAC_SAS=0.0647;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.405;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.610;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.37;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_pred=N;VEST3_score=0.048;CADD_raw=-2.020;CADD_phred=0.001;DANN_score=0.759;fathmm-MKL_coding_score=0.121;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.091;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=1.04;phyloP7way_vertebrate=-1.392;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.257;SiPhy_29way_logOdds=0.560;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1098;gnomAD_exome_AFR=0.0186;gnomAD_exome_AMR=0.0493;gnomAD_exome_ASJ=0.1979;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.1285;gnomAD_exome_NFE=0.1677;gnomAD_exome_OTH=0.1245;gnomAD_exome_SAS=0.0565;gnomAD_genome_ALL=0.0983;gnomAD_genome_AFR=0.0188;gnomAD_genome_AMR=0.0522;gnomAD_genome_ASJ=0.2147;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1213;gnomAD_genome_NFE=0.1475;gnomAD_genome_OTH=0.1304;Whole_Blood=Whole_Blood::0.128134::0.178;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-433.78,0,-463.061:700:305:340:8549:8797 . . . . . . . . 0/1:-498.851,0,-611.808:852:409:380:9743:11590 . . . 1/1:-813.199,-120.351,0:493:7:432:11076:133 . . . . . 1/1:-591.862,-82.5534,0:388:10:311:8088:176 . . . . . . . 0/1:-314.01,0,-476.032:610:316:247:6452:8719 . . . . . . . . . . . . . 1/1:-537.2,-72.3319,0:325:9:276:7241:182 . . . . . . . . . . . 1/1:-464.353,-59.4717,0:299:11:253:6456:238 . . 1/1:-368.287,-52.5838,0:248:8:204:5148:134 . . 0/1:-442.596,0,-737.745:924:488:364:9448:13806 . 1/1:-396.666,-53.1082,0:254:8:218:5631:170 . . . . 1/1:-488.686,-62.7807,0:285:6:249:6568:172 . . . . 0/1:-311.989,0,-364.019:591:277:268:6855:7465 . . . . . . 1/1:-685.508,-90.1041,0:452:21:385:9853:468 0/1:-471.143,0,-677.439:918:453:396:10061:12614 . . . . . . . . 1/1:-800.577,-89.1919,0:532:29:447:11699:689 . . . . . . . . . . . 1/1:-988.213,-101.582,0:425:9:404:11876:298:9,404 . . . . . 0/1:-760.445,0,-874.954:835:417:400:11731:13101:417,400 1/1:-832.096,-92.2742,0:336:3:322:9789:64:3,322 . . . 1/1:-823.911,-86.4215,0:340:5:322:9640:135:5,322 1/1:-936.363,-101.514,0:374:3:362:10994:104:3,362 . chrX 119576455 . G A 9491.41 . AB=0.485973;ABP=4.89879;AC=13;AF=0.5;AN=16;AO=537;CIGAR=1X;DP=5189;DPB=1105;DPRA=0;EPP=19.0598;EPPR=14.6074;GTI=0;LEN=1;MEANALT=3;MQM=39.3818;MQMR=39.8956;NS=1;NUMALT=1;ODDS=2261.07;PAIRED=0.960894;PAIREDR=0.921245;PAO=0;PQA=0;PQR=0;PRO=0;QA=15763;QR=15563;RO=546;RPL=168;RPP=166.38;RPPR=162.093;RPR=369;RUN=1;SAF=325;SAP=54.6444;SAR=212;SF=0,1;SRF=335;SRP=64.1615;SRR=211;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon7:c.C927T:p.S309S,LAMP2:NM_002294:exon7:c.C927T:p.S309S,LAMP2:NM_013995:exon7:c.C927T:p.S309S;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=0.0287;esp6500siv2_ea=0.0407;esp6500siv2_all=0.0287;esp6500siv2_ea=0.0407;1000g2015aug_all=0.013245;avsnp147=rs73219144;Kaviar_AF=0.0258923;Kaviar_AC=4003;Kaviar_AN=154602;ExAC_ALL=0.0275;ExAC_AFR=0.0054;ExAC_AMR=0.0135;ExAC_EAS=0;ExAC_FIN=0.0393;ExAC_NFE=0.0407;ExAC_OTH=0.0253;ExAC_SAS=0.0087;CLNALLELEID=53612;CLNDN=Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0110;dpsi_zscore=0.075;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0271;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0160;gnomAD_exome_ASJ=0.0313;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0381;gnomAD_exome_NFE=0.0401;gnomAD_exome_OTH=0.0338;gnomAD_exome_SAS=0.0083;gnomAD_genome_ALL=0.0272;gnomAD_genome_AFR=0.0049;gnomAD_genome_AMR=0.0181;gnomAD_genome_ASJ=0.0378;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0360;gnomAD_genome_NFE=0.0402;gnomAD_genome_OTH=0.0314;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-1029.68,0,-1013.57:1105:546:537:15763:15563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-883.992,-93.0043,0:374:7:363:10644:206 . . . . 1/1:-1174.36,-115.295,0:515:16:494:14270:461 . . . . . . . . . . . . . . . . 1/1:-968.779,-107.685,0:392:4:385:11380:114 . . . . . . . 1/1:-931.199,-88.2354,0:409:13:391:11259:397 . . 0/1:-580.813,0,-669.848:721:367:322:9164:10365 . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1274.94,0,-1265.38:1310:651:638:19300:19156 . . . . . . . . . . . . . . 1/1:-949.421,-87.763,0:363:8:352:11193:231:8,352 . . . . . . . . chrX 119580269 . A C 4235.04 . AB=0.449541;ABP=15.063;AC=1;AF=0.5;AN=2;AO=245;CIGAR=1X;DP=545;DPB=545;DPRA=0;EPP=6.91895;EPPR=22.7139;GTI=0;LEN=1;MEANALT=2;MQM=35.8694;MQMR=36.8188;NS=1;NUMALT=1;ODDS=975.154;PAIRED=0.820408;PAIREDR=0.828859;PAO=0;PQA=0;PQR=0;PRO=0;QA=7577;QR=9537;RO=298;RPL=91;RPP=38.1882;RPPR=118.696;RPR=154;RUN=1;SAF=140;SAP=13.8677;SAR=105;SF=0;SRF=163;SRP=8.72317;SRR=135;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon6:c.T755G:p.I252S,LAMP2:NM_002294:exon6:c.T755G:p.I252S,LAMP2:NM_013995:exon6:c.T755G:p.I252S;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0025;esp6500siv2_all=0.0017;esp6500siv2_ea=0.0025;1000g2015aug_all=0.000529801;avsnp147=rs141541387;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0001;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0016;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=53604;CLNDN=Danon_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.775;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.735;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.803;MutationTaster_pred=N;MutationAssessor_score=2.24;MutationAssessor_pred=M;FATHMM_score=1.42;FATHMM_pred=T;PROVEAN_score=-3.82;PROVEAN_pred=D;VEST3_score=0.605;CADD_raw=3.794;CADD_phred=23.4;DANN_score=0.995;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.863;MetaSVM_pred=T;MetaLR_score=0.138;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.24;phyloP7way_vertebrate=0.042;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.679;phastCons20way_mammalian=0.970;SiPhy_29way_logOdds=8.994;GDI_full_10282015=.;dpsi_max_tissue=-0.2991;dpsi_zscore=-0.852;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0014;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . 0/1:-436.989,0,-603.506:545:298:245:7577:9537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 119581846 . C T 10230.90 . AB=0.481304;ABP=6.17694;AC=1;AF=0.5;AN=2;AO=502;CIGAR=1X;DP=1043;DPB=1043;DPRA=0;EPP=102.95;EPPR=94.4882;GTI=0;LEN=1;MEANALT=3;MQM=40.0757;MQMR=40.4194;NS=1;NUMALT=1;ODDS=2355.76;PAIRED=0.960159;PAIREDR=0.981025;PAO=0;PQA=0;PQR=0;PRO=0;QA=15898;QR=16910;RO=527;RPL=173;RPP=108.279;RPPR=219.09;RPR=329;RUN=1;SAF=278;SAP=15.6239;SAR=224;SF=1;SRF=325;SRP=65.3485;SRR=202;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon5:c.G591A:p.V197V,LAMP2:NM_002294:exon5:c.G591A:p.V197V,LAMP2:NM_013995:exon5:c.G591A:p.V197V;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=9.5e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=9.5e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs201030806;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0016;ExAC_SAS=0.0002;CLNALLELEID=53600;CLNDN=Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1413;dpsi_zscore=-0.561;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0054;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1053.25,0,-1140.58:1043:527:502:15898:16910:527,502 . . . . . . . . . . . . . . chrX 119589372 . A C 11283.80 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=491;CIGAR=1X;DP=523;DPB=523;DPRA=0;EPP=4.60684;EPPR=12.0706;GTI=0;LEN=1;MEANALT=3;MQM=38.4358;MQMR=33.2414;NS=1;NUMALT=1;ODDS=506.184;PAIRED=0.96334;PAIREDR=0.862069;PAO=0;PQA=0;PQR=0;PRO=0;QA=14137;QR=629;RO=29;RPL=275;RPP=18.4052;RPPR=3.08518;RPR=216;RUN=1;SAF=176;SAP=88.4584;SAR=315;SF=0;SRF=15;SRP=3.08518;SRR=14;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon3:c.T237G:p.C79W,LAMP2:NM_002294:exon3:c.T237G:p.C79W,LAMP2:NM_013995:exon3:c.T237G:p.C79W;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.57;MutationAssessor_pred=M;FATHMM_score=0.64;FATHMM_pred=T;PROVEAN_score=-9.17;PROVEAN_pred=D;VEST3_score=0.812;CADD_raw=4.499;CADD_phred=24.3;DANN_score=0.993;fathmm-MKL_coding_score=0.675;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.379;MetaSVM_pred=T;MetaLR_score=0.384;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=0.302;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.193;phastCons7way_vertebrate=0.657;phastCons20way_mammalian=0.949;SiPhy_29way_logOdds=8.913;GDI_full_10282015=.;dpsi_max_tissue=-0.1701;dpsi_zscore=-0.626;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1139.64,-105.36,0:523:29:491:14137:629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 119590530 . GCGT GCGA 825.86 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=32;CIGAR=3M1X;DP=38;DPB=38;DPRA=0;EPP=30.1537;EPPR=0;GTI=0;LEN=1;MEANALT=5;MQM=41.8125;MQMR=0;NS=1;NUMALT=1;ODDS=38.2383;PAIRED=0.96875;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1006;QR=0;RO=0;RPL=12;RPP=7.35324;RPPR=0;RPR=20;RUN=1;SAF=18;SAP=4.09604;SAR=14;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=LAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs\x3bLAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs\x3bLAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.373727;Kaviar_AC=57779;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-88.5001,-9.63296,0:38:0:32:1006:0:0,32 . . . . . . . . . . . . . . . . chrX 119590531 . CGT CGA,AGT 847.04 . AB=0;ABP=0;AC=2,0;AF=1;AN=4;AO=62;CIGAR=2M1X;DP=141;DPB=67;DPRA=0;EPP=59.0483;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=41.6774;MQMR=0;NS=1;NUMALT=1;ODDS=65.0266;PAIRED=0.935484;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2037;QR=0;RO=0;RPL=26;RPP=6.51267;RPPR=0;RPR=36;RUN=1;SAF=35;SAP=5.25182;SAR=27;SF=1;SRF=0;SRP=0;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=LAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs\x3bLAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs\x3bLAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.373727;Kaviar_AC=57779;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon2:c.G158T:p.R53L,LAMP2:NM_002294:exon2:c.G158T:p.R53L,LAMP2:NM_013995:exon2:c.G158T:p.R53L;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.295;SIFT_pred=T;Polyphen2_HDIV_score=0.294;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.132;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.37;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_pred=N;VEST3_score=0.197;CADD_raw=0.281;CADD_phred=5.506;DANN_score=0.817;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.067;MetaSVM_pred=T;MetaLR_score=0.068;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=-9.04;phyloP7way_vertebrate=-0.829;phyloP20way_mammalian=-0.469;phastCons7way_vertebrate=0.371;phastCons20way_mammalian=0.022;SiPhy_29way_logOdds=7.636;GDI_full_10282015=.;dpsi_max_tissue=-0.5383;dpsi_zscore=-1.129;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-178.924,-18.6639,0,.,.,.:67:0:62,.:2037,.:0:0,62 . . . . . . . . . . . . 0/0:.,.,.,.,.,-180.39:74:69:.,4:.,104:2155:69,4 . . . . . . chrX 119590532 . GT GA 1876.02 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=71;CIGAR=1M1X;DP=74;DPB=74;DPRA=0;EPP=49.5287;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.662;MQMR=42;NS=1;NUMALT=1;ODDS=96.4162;PAIRED=0.985915;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2258;QR=28;RO=1;RPL=27;RPP=11.8491;RPPR=5.18177;RPR=44;RUN=1;SAF=41;SAP=6.71098;SAR=30;SF=1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic\x3bexonic\x3bexonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion;AAChange.refGene=LAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs\x3bLAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs\x3bLAMP2:NM_001122606:exon2:c.156delA:p.V52fs,LAMP2:NM_002294:exon2:c.156delA:p.V52fs,LAMP2:NM_013995:exon2:c.156delA:p.V52fs;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=0.373727;Kaviar_AC=57779;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-195.864,-19.1531,0:74:1:71:2258:28:1,71 . . . . . . chrX 119590533 . T A 8650.18 . AB=0.475341;ABP=8.04365;AC=104;AF=0.5;AN=116;AO=453;CIGAR=1X;DP=27105;DPB=953;DPRA=0;EPP=472.628;EPPR=266.883;GTI=0;LEN=1;MEANALT=2;MQM=40.6909;MQMR=40.9558;NS=1;NUMALT=1;ODDS=1790.13;PAIRED=0.993377;PAIREDR=0.985944;PAO=0;PQA=0;PQR=0;PRO=0;QA=12897;QR=15369;RO=498;RPL=197;RPP=19.6966;RPPR=25.6145;RPR=256;RUN=1;SAF=205;SAP=11.8736;SAR=248;SF=0,1;SRF=243;SRP=3.6382;SRR=255;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon2:c.A156T:p.V52V,LAMP2:NM_002294:exon2:c.A156T:p.V52V,LAMP2:NM_013995:exon2:c.A156T:p.V52V;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=0.3986;esp6500siv2_ea=0.4261;esp6500siv2_all=0.3986;esp6500siv2_ea=0.4261;1000g2015aug_all=0.380927;avsnp147=rs12097;Kaviar_AF=0.373727;Kaviar_AC=57779;Kaviar_AN=154602;ExAC_ALL=0.4280;ExAC_AFR=0.3712;ExAC_AMR=0.3301;ExAC_EAS=0.4138;ExAC_FIN=0.4945;ExAC_NFE=0.4528;ExAC_OTH=0.4165;ExAC_SAS=0.4478;CLNALLELEID=53583;CLNDN=Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6022;dpsi_zscore=-1.188;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3895;gnomAD_exome_AFR=0.3442;gnomAD_exome_AMR=0.3115;gnomAD_exome_ASJ=0.4072;gnomAD_exome_EAS=0.3817;gnomAD_exome_FIN=0.4445;gnomAD_exome_NFE=0.4100;gnomAD_exome_OTH=0.3740;gnomAD_exome_SAS=0.3989;gnomAD_genome_ALL=0.4039;gnomAD_genome_AFR=0.3573;gnomAD_genome_AMR=0.3436;gnomAD_genome_ASJ=0.4348;gnomAD_genome_EAS=0.3719;gnomAD_genome_FIN=0.4629;gnomAD_genome_NFE=0.4223;gnomAD_genome_OTH=0.3971;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-839.163,0,-1049.05:953:498:453:12897:15369 1/1:-1263.45,-134.44,0:520:9:510:14711:246 1/1:-2131.16,-246.575,0:893:8:880:24741:235 . 1/1:-930.768,-74.3849,0:415:18:395:11194:564 . 0/1:-729.401,0,-919.225:816:429:385:11199:13383 1/1:-952.914,-115.191,0:388:1:384:11026:36 . . 1/1:-955.982,-110.742,0:398:4:394:11205:100 0/1:-809.906,0,-918.307:875:440:428:12281:13667 0/1:-787.274,0,-927.318:862:435:421:11956:13592 1/1:-902.776,-104.522,0:385:4:378:10470:118 . 1/1:-1470.12,-158.89,0:607:9:593:17121:263 1/1:-794.601,-99.0021,0:332:1:330:9193:27 . . 1/1:-756.888,-83.0836,0:313:5:308:8841:123 . 1/1:-1309.37,-145.203,0:527:6:517:15180:150 . 1/1:-957.788,-109.707,0:380:2:375:10956:50 . 0/1:-628.888,0,-770.923:738:376:355:9800:11455 1/1:-813.873,-83.1379,0:335:8:325:9544:192 . . 1/1:-1486.06,-172.915,0:599:5:590:17051:70 . 1/1:-1544.69,-160.689,0:612:10:600:17924:259 . 1/1:-742.904,-79.6127,0:312:6:305:8708:159 . . . 1/1:-2661.44,-311.873,0:1076:6:1065:30639:119 1/1:-894.846,-74.3209,0:405:19:385:10820:549 0/1:-448.848,0,-567.422:510:265:241:6916:8251 . . . 1/1:-973.64,-96.4852,0:403:12:390:11396:287 . . 1/1:-1006.03,-116.241,0:406:2:403:11722:63 1/1:-633.814,-73.7859,0:261:2:258:7327:50 . . . 0/1:-733.26,0,-961.807:858:451:405:11449:14182 . . 1/1:-996.739,-116.353,0:412:4:407:11530:82 1/1:-779.549,-75.7218,0:329:10:318:9249:272 . 1/1:-844.541,-93.7022,0:346:5:340:9745:114 . . . 1/1:-2540.43,-265.159,0:1018:16:996:29540:447 1/1:-712.318,-58.2511,0:304:12:291:8558:379 1/1:-872.021,-97.1912,0:359:5:351:10142:114 . 1/1:-1042.29,-112.145,0:414:5:406:12090:130 1/1:-1510.31,-176.236,0:610:3:601:17464:62 . 1/1:-779.034,-82.5105,0:331:7:324:9205:191 . 1/1:-885.632,-86.139,0:377:9:366:10445:302 . 1/1:-1146.65,-124.161,0:481:10:467:13380:219 0/1:-467.136,0,-704.345:653:356:291:7599:10446 0/1:-685.374,0,-843.56:775:396:375:10516:12383 1/1:-847.389,-93.6548,0:356:5:346:9978:136 1/1:-1140.67,-122.755,0:472:9:458:13291:201 . . 1/1:-871.228,-93.1895,0:363:6:353:10150:168 1/1:-1048.61,-98.3106,0:461:15:443:12548:452 . 1/1:-1084.27,-113.641,0:443:8:432:12638:232 . . . 1/1:-899.394,-94.3824,0:388:9:378:10601:250 . . 1/1:-1196.69,-131.727,0:497:8:486:13918:191 . . 1/1:-2570.26,-300.197,0:1049:7:1037:29644:169 0/1:-694.68,0,-685.241:701:336:358:10358:10335 . . . 1/1:-233.409,-22.3859,0:86:1:85:2727:36:1,85 1/1:-208.742,-14.7023,0:82:5:77:2504:127:5,77 . 1/1:-173.494,-18.6086,0:67:1:65:1984:14:1,65 . . . . . . 1/1:-170.821,-14.06,0:70:2:66:2008:72:2,66 0/1:-125.261,0,-112.753:116:54:61:1812:1692:54,61 . 1/1:-202.792,-16.0921,0:85:4:79:2410:100:4,79 0/1:-178.323,0,-145.125:157:71:85:2585:2235:71,85 . 1/1:-178.775,-14.627,0:71:2:68:2134:72:2,68 1/1:-135.947,-14.1388,0:53:1:50:1568:14:1,50 . chrX 119603038 . AGGCGGCGACGGCGGCGACG AGGCGGCGACG 2594.69 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=288;CIGAR=1M9D10M;DP=814;DPB=286.4;DPRA=0;EPP=10.7311;EPPR=7.35324;GTI=0;LEN=9;MEANALT=62;MQM=17.2639;MQMR=30.625;NS=1;NUMALT=1;ODDS=354.761;PAIRED=0.909722;PAIREDR=1;PAO=10;PQA=264;PQR=354;PRO=14;QA=3755;QR=261;RO=8;RPL=153;RPP=5.45321;RPPR=3.0103;RPR=135;RUN=1;SAF=129;SAP=9.79615;SAR=159;SF=0;SRF=2;SRP=7.35324;SRR=6;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=LAMP2;GeneDetail.refGene=NM_001122606:c.-25_-33delCGTCGCCGC,NM_002294:c.-25_-33delCGTCGCCGC,NM_013995:c.-25_-33delCGTCGCCGC;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-266.947,-75.6041,0:418:8:288:3755:261 . . . 1/1:-258.321,-81.3044,0:396:5:283:3548:148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 135292012 . CTTTTTTTTTCCCCCCA CTTTTTTTTTTCCCCCA,ATTTTTTTTTCCCCCCA 743.39 . AB=0;ABP=0;AC=2,0;AF=0;AN=14;AO=18;CIGAR=1X;DP=2547;DPB=325;DPRA=0;EPP=20.3821;EPPR=4.66651;GTI=0;LEN=1;MEANALT=3;MQM=33.1667;MQMR=36.8712;NS=1;NUMALT=1;ODDS=325.198;PAIRED=0.944444;PAIREDR=0.969492;PAO=0;PQA=0;PQR=0;PRO=0;QA=303;QR=8319;RO=295;RPL=13;RPP=10.7311;RPPR=17.9162;RPR=5;RUN=1;SAF=12;SAP=7.35324;SAR=6;SF=1;SRF=162;SRP=9.20084;SRR=133;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;1000g2015aug_all=0.519735;avsnp147=rs2076705;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.4945;ExAC_AFR=0.3579;ExAC_AMR=0.5150;ExAC_EAS=0.6447;ExAC_FIN=0.5988;ExAC_NFE=0.4981;ExAC_OTH=0.4714;ExAC_SAS=0.4380;CLNALLELEID=195627;CLNDN=Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified;CLNDISDB=MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5173;gnomAD_exome_AFR=0.3698;gnomAD_exome_AMR=0.5370;gnomAD_exome_ASJ=0.4576;gnomAD_exome_EAS=0.6777;gnomAD_exome_FIN=0.6125;gnomAD_exome_NFE=0.5134;gnomAD_exome_OTH=0.4854;gnomAD_exome_SAS=0.4449;gnomAD_genome_ALL=0.5348;gnomAD_genome_AFR=0.3771;gnomAD_genome_AMR=0.5266;gnomAD_genome_ASJ=0.4971;gnomAD_genome_EAS=0.6978;gnomAD_genome_FIN=0.6368;gnomAD_genome_NFE=0.5799;gnomAD_genome_OTH=0.5933;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;1000g2015aug_all=0.519735;avsnp147=rs2076705;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.4945;ExAC_AFR=0.3579;ExAC_AMR=0.5150;ExAC_EAS=0.6447;ExAC_FIN=0.5988;ExAC_NFE=0.4981;ExAC_OTH=0.4714;ExAC_SAS=0.4380;CLNALLELEID=195627;CLNDN=Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified;CLNDISDB=MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5173;gnomAD_exome_AFR=0.3698;gnomAD_exome_AMR=0.5370;gnomAD_exome_ASJ=0.4576;gnomAD_exome_EAS=0.6777;gnomAD_exome_FIN=0.6125;gnomAD_exome_NFE=0.5134;gnomAD_exome_OTH=0.4854;gnomAD_exome_SAS=0.4449;gnomAD_genome_ALL=0.5348;gnomAD_genome_AFR=0.3771;gnomAD_genome_AMR=0.5266;gnomAD_genome_ASJ=0.4971;gnomAD_genome_EAS=0.6978;gnomAD_genome_FIN=0.6368;gnomAD_genome_NFE=0.5799;gnomAD_genome_OTH=0.5933;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-659.992:325:295:.,18:.,303:8319:295,18 . 0/0:.,.,.,.,.,-881.265:387:357:.,22:.,367:10692:357,22 . . 0/0:.,.,.,.,.,-697.801:358:328:.,18:.,283:8857:328,18 0/0:.,.,.,.,.,-923.222:449:410:.,24:.,399:11339:410,24 1/1:-448.898,-47.2708,0,.,.,.:310:3:169,.:5236,.:101:3,169 . . . . . 0/0:.,.,.,.,.,-760.747:349:322:.,18:.,353:9268:322,18 0/0:.,.,.,.,.,-737.237:369:334:.,19:.,289:9351:334,19 . chrX 135292017 . T C 6040.99 . AB=0.428414;ABP=43.4265;AC=1;AF=0.5;AN=2;AO=389;CIGAR=1X;DP=908;DPB=908;DPRA=0;EPP=3.68575;EPPR=19.7392;GTI=0;LEN=1;MEANALT=3;MQM=35.4576;MQMR=32.2919;NS=1;NUMALT=1;ODDS=1390.99;PAIRED=0.951157;PAIREDR=0.952381;PAO=0;PQA=0;PQR=0;PRO=0;QA=10855;QR=15140;RO=483;RPL=213;RPP=10.6523;RPPR=13.8047;RPR=176;RUN=1;SAF=218;SAP=15.3414;SAR=171;SF=0;SRF=260;SRP=9.16505;SRR=223;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0036;1000g2015aug_all=0.00688742;avsnp147=rs11798700;Kaviar_AF=0.0018693;Kaviar_AC=289;Kaviar_AN=154602;ExAC_ALL=0.0106;ExAC_AFR=0.0032;ExAC_AMR=0.0050;ExAC_EAS=0;ExAC_FIN=0.0087;ExAC_NFE=0.0165;ExAC_OTH=0.0032;ExAC_SAS=0.0030;CLNALLELEID=195625;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0113;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.0055;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0095;gnomAD_exome_NFE=0.0194;gnomAD_exome_OTH=0.0115;gnomAD_exome_SAS=0.0036;gnomAD_genome_ALL=0.0116;gnomAD_genome_AFR=0.0035;gnomAD_genome_AMR=0.0100;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0101;gnomAD_genome_NFE=0.0179;gnomAD_genome_OTH=0.0144;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-616.113,0,-848.626:908:483:389:10855:15140 . . . . . . . . . . . . . . . . . . . . . . . chrX 135292021 . TCCCCCCAG TTCCCCCAG 8759.68 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=265;CIGAR=1M1X7M;DP=1138;DPB=408.111;DPRA=0;EPP=4.39513;EPPR=20.3821;GTI=0;LEN=1;MEANALT=65;MQM=37.8302;MQMR=42;NS=1;NUMALT=1;ODDS=318.351;PAIRED=0.932075;PAIREDR=1;PAO=3.5;PQA=102;PQR=102;PRO=3.5;QA=7916;QR=245;RO=8;RPL=134;RPP=3.08405;RPPR=7.35324;RPR=131;RUN=1;SAF=88;SAP=67.9168;SAR=177;SF=1;SRF=2;SRP=7.35324;SRR=6;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;1000g2015aug_all=0.519735;avsnp147=rs2076705;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.4945;ExAC_AFR=0.3579;ExAC_AMR=0.5150;ExAC_EAS=0.6447;ExAC_FIN=0.5988;ExAC_NFE=0.4981;ExAC_OTH=0.4714;ExAC_SAS=0.4380;CLNALLELEID=195627;CLNDN=Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified;CLNDISDB=MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5173;gnomAD_exome_AFR=0.3698;gnomAD_exome_AMR=0.5370;gnomAD_exome_ASJ=0.4576;gnomAD_exome_EAS=0.6777;gnomAD_exome_FIN=0.6125;gnomAD_exome_NFE=0.5134;gnomAD_exome_OTH=0.4854;gnomAD_exome_SAS=0.4449;gnomAD_genome_ALL=0.5348;gnomAD_genome_AFR=0.3771;gnomAD_genome_AMR=0.5266;gnomAD_genome_ASJ=0.4971;gnomAD_genome_EAS=0.6978;gnomAD_genome_FIN=0.6368;gnomAD_genome_NFE=0.5799;gnomAD_genome_OTH=0.5933;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;1000g2015aug_all=0.519735;avsnp147=rs2076705;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.4945;ExAC_AFR=0.3579;ExAC_AMR=0.5150;ExAC_EAS=0.6447;ExAC_FIN=0.5988;ExAC_NFE=0.4981;ExAC_OTH=0.4714;ExAC_SAS=0.4380;CLNALLELEID=195627;CLNDN=Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified;CLNDISDB=MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5173;gnomAD_exome_AFR=0.3698;gnomAD_exome_AMR=0.5370;gnomAD_exome_ASJ=0.4576;gnomAD_exome_EAS=0.6777;gnomAD_exome_FIN=0.6125;gnomAD_exome_NFE=0.5134;gnomAD_exome_OTH=0.4854;gnomAD_exome_SAS=0.4449;gnomAD_genome_ALL=0.5348;gnomAD_genome_AFR=0.3771;gnomAD_genome_AMR=0.5266;gnomAD_genome_ASJ=0.4971;gnomAD_genome_EAS=0.6978;gnomAD_genome_FIN=0.6368;gnomAD_genome_NFE=0.5799;gnomAD_genome_OTH=0.5933;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-665.354,-64.5853,0:410:8:265:7916:245:8,265 . . 1/1:-1105.71,-121.805,0:728:7:450:12962:218:7,450 . . . . . . . chrX 135292022 . CC TC,AC 6325.33 . AB=0;ABP=0;AC=83,0;AF=1;AN=112;AO=477;CIGAR=1X;DP=29271;DPB=504;DPRA=0;EPP=47.6279;EPPR=18.2106;GTI=0;LEN=1;MEANALT=3;MQM=32.5346;MQMR=22.7143;NS=1;NUMALT=1;ODDS=628.619;PAIRED=0.958071;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=11983;QR=165;RO=7;RPL=250;RPP=5.41849;RPPR=3.32051;RPR=227;RUN=1;SAF=219;SAP=9.93443;SAR=258;SF=0,1;SRF=4;SRP=3.32051;SRR=3;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;1000g2015aug_all=0.519735;avsnp147=rs2076705;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.4945;ExAC_AFR=0.3579;ExAC_AMR=0.5150;ExAC_EAS=0.6447;ExAC_FIN=0.5988;ExAC_NFE=0.4981;ExAC_OTH=0.4714;ExAC_SAS=0.4380;CLNALLELEID=195627;CLNDN=Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified;CLNDISDB=MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5173;gnomAD_exome_AFR=0.3698;gnomAD_exome_AMR=0.5370;gnomAD_exome_ASJ=0.4576;gnomAD_exome_EAS=0.6777;gnomAD_exome_FIN=0.6125;gnomAD_exome_NFE=0.5134;gnomAD_exome_OTH=0.4854;gnomAD_exome_SAS=0.4449;gnomAD_genome_ALL=0.5348;gnomAD_genome_AFR=0.3771;gnomAD_genome_AMR=0.5266;gnomAD_genome_ASJ=0.4971;gnomAD_genome_EAS=0.6978;gnomAD_genome_FIN=0.6368;gnomAD_genome_NFE=0.5799;gnomAD_genome_OTH=0.5933;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . 1/1:.,.,0,.,.,.:504:7:477,.:11983,.:165 0/1:.,.,-629.68,.,.,.:830:387:385,.:10303,.:10678 1/1:.,.,0,.,.,.:273:2:263,.:6873,.:59 1/1:.,.,0,.,.,.:425:4:403,.:10287,.:85 0/1:.,.,-819.885,.,.,.:988:500:419,.:10841,.:13723 0/1:.,.,-664.629,.,.,.:821:407:362,.:9220,.:11359 . . . . 0/1:.,.,-625.207,.,.,.:806:372:384,.:9541,.:10518 0/1:.,.,-597.811,.,.,.:781:361:361,.:9350,.:10089 . . . . . . . . 1/1:.,.,0,.,.,.:432:6:410,.:10192,.:109 . 1/1:.,.,0,.,.,.:501:19:465,.:11599,.:520 1/1:.,.,0,.,.,.:486:5:459,.:11717,.:105 0/1:.,.,-452.805,.,.,.:673:307:311,.:7841,.:8263 1/1:.,.,0,.,.,.:356:18:327,.:8378,.:460 . 1/1:.,.,0,.,.,.:292:9:270,.:6840,.:261 . 1/1:.,.,0,.,.,.:303:6:288,.:7636,.:159 . . . . . . 0/1:.,.,-787.857,.,.,.:906:462:371,.:9607,.:12847 1/1:.,.,0,.,.,.:356:5:331,.:8306,.:142 0/1:.,.,-422.882,.,.,.:558:260:258,.:6300,.:7295 1/1:.,.,0,.,.,.:480:6:449,.:11616,.:171 1/1:.,.,0,.,.,.:335:9:307,.:7733,.:227 1/1:.,.,0,.,.,.:443:7:419,.:11062,.:173 1/1:.,.,0,.,.,.:419:9:395,.:10430,.:212 1/1:.,.,0,.,.,.:522:10:490,.:12757,.:264 . . . . . . 1/1:.,.,0,.,.,.:727:9:681,.:17110,.:195 1/1:.,.,0,.,.,.:556:10:523,.:13877,.:189 . 1/1:.,.,0,.,.,.:273:8:252,.:6415,.:159 . . . 1/1:.,.,0,.,.,.:261:7:240,.:6104,.:177 . 1/1:.,.,0,.,.,.:486:8:454,.:11280,.:154 . 1/1:.,.,0,.,.,.:313:5:298,.:7795,.:114 . 0/1:.,.,-830.728,.,.,.:958:494:416,.:10467,.:13835 1/1:.,.,0,.,.,.:408:11:377,.:9902,.:290 0/1:.,.,-293.713,.,.,.:408:190:176,.:4532,.:5366 1/1:.,.,0,.,.,.:350:7:334,.:8786,.:195 . 1/1:.,.,0,.,.,.:402:11:371,.:9342,.:321 1/1:.,.,0,.,.,.:360:18:331,.:8469,.:473 1/1:.,.,0,.,.,.:475:7:453,.:12069,.:178 . . 0/1:.,.,-498.35,.,.,.:665:312:313,.:8189,.:8525 1/1:.,.,0,.,.,.:471:7:444,.:11330,.:167 . . . 1/1:.,.,0,.,.,.:248:6:229,.:6097,.:190 . . . 1/1:.,.,0,.,.,.:367:5:347,.:8870,.:96 . . . . . 1/1:.,.,0,.,.,.:417:11:385,.:9431,.:285 . . 1/1:.,.,0,.,.,.:965:10:935,.:24614,.:258 0/1:.,.,-678.827,.,.,.:833:406:361,.:9176,.:11291 . . 0/0:.,.,.,.,.,-1133.06:502:468:.,27:.,511:13760:468,27 0/0:.,.,.,.,.,-1161.8:524:488:.,30:.,493:14161:488,30 0/0:.,.,.,.,.,-1248.61:560:514:.,32:.,563:15166:514,32 1/1:-501.728,-51.9784,0,.,.,.:238:5:207,.:5936,.:140:5,207 1/1:-725.906,-81.7068,0,.,.,.:363:4:303,.:8510,.:121:4,303 0/1:.,.,-912.033,.,.,.:1033:490:483,.:14145,.:14235:490,483 . 0/0:.,.,.,.,.,-1148.36:511:465:.,28:.,455:13888:465,28 . . 1/1:.,.,0,.,.,.:486:20:457,.:13439,.:636:20,457 . . . 0/0:.,.,.,.,.,-1050.26:498:445:.,31:.,594:12988:445,31 0/0:.,.,.,.,.,-1803.76:834:767:.,49:.,940:22261:767,49 . 0/0:.,.,.,.,.,-844.884:403:369:.,25:.,463:10443:369,25 1/1:-869.694,-98.9226,0,.,.,.:421:4:358,.:10289,.:113:4,358 0/0:.,.,.,.,.,-1018.79:465:417:.,30:.,549:12512:417,30 chrX 135292022 . CC TC,AC 3978.83 . AB=0;ABP=0;AC=9,0;AF=0;AN=26;AO=27;CIGAR=1X;DP=6838;DPB=502;DPRA=0;EPP=16.6021;EPPR=11.9931;GTI=0;LEN=1;MEANALT=3;MQM=29.8889;MQMR=39.6709;NS=1;NUMALT=1;ODDS=525.27;PAIRED=0.962963;PAIREDR=0.972222;PAO=0;PQA=0;PQR=0;PRO=0;QA=511;QR=13760;RO=468;RPL=18;RPP=9.52472;RPPR=3.17734;RPR=9;RUN=1;SAF=25;SAP=45.5551;SAR=2;SF=1;SRF=185;SRP=47.5719;SRR=283;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;esp6500siv2_all=0.3848;esp6500siv2_ea=0.4397;1000g2015aug_all=0.519735;avsnp147=rs2076705;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.4945;ExAC_AFR=0.3579;ExAC_AMR=0.5150;ExAC_EAS=0.6447;ExAC_FIN=0.5988;ExAC_NFE=0.4981;ExAC_OTH=0.4714;ExAC_SAS=0.4380;CLNALLELEID=195627;CLNDN=Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified;CLNDISDB=MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5173;gnomAD_exome_AFR=0.3698;gnomAD_exome_AMR=0.5370;gnomAD_exome_ASJ=0.4576;gnomAD_exome_EAS=0.6777;gnomAD_exome_FIN=0.6125;gnomAD_exome_NFE=0.5134;gnomAD_exome_OTH=0.4854;gnomAD_exome_SAS=0.4449;gnomAD_genome_ALL=0.5348;gnomAD_genome_AFR=0.3771;gnomAD_genome_AMR=0.5266;gnomAD_genome_ASJ=0.4971;gnomAD_genome_EAS=0.6978;gnomAD_genome_FIN=0.6368;gnomAD_genome_NFE=0.5799;gnomAD_genome_OTH=0.5933;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic\x3bintronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq26.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/0:.,.,.,.,.,-1133.06:502:468:.,27:.,511:13760:468,27 0/0:.,.,.,.,.,-1161.8:524:488:.,30:.,493:14161:488,30 0/0:.,.,.,.,.,-1248.61:560:514:.,32:.,563:15166:514,32 1/1:-501.728,-51.9784,0,.,.,.:238:5:207,.:5936,.:140:5,207 1/1:-725.906,-81.7068,0,.,.,.:363:4:303,.:8510,.:121:4,303 0/1:.,.,-912.033,.,.,.:1033:490:483,.:14145,.:14235:490,483 . 0/0:.,.,.,.,.,-1148.36:511:465:.,28:.,455:13888:465,28 . . 1/1:.,.,0,.,.,.:486:20:457,.:13439,.:636:20,457 . . . 0/0:.,.,.,.,.,-1050.26:498:445:.,31:.,594:12988:445,31 0/0:.,.,.,.,.,-1803.76:834:767:.,49:.,940:22261:767,49 . 0/0:.,.,.,.,.,-844.884:403:369:.,25:.,463:10443:369,25 1/1:-869.694,-98.9226,0,.,.,.:421:4:358,.:10289,.:113:4,358 0/0:.,.,.,.,.,-1018.79:465:417:.,30:.,549:12512:417,30 chrX 153608120 . C A 3709.64 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=184;CIGAR=1X;DP=207;DPB=207;DPRA=0;EPP=25.858;EPPR=6.56362;GTI=0;LEN=1;MEANALT=2;MQM=37.1793;MQMR=34.7727;NS=1;NUMALT=1;ODDS=134.692;PAIRED=0.826087;PAIREDR=0.636364;PAO=0;PQA=0;PQR=0;PRO=0;QA=5024;QR=500;RO=22;RPL=103;RPP=8.72222;RPPR=3.40511;RPR=81;RUN=1;SAF=77;SAP=13.6316;SAR=107;SF=1;SRF=14;SRP=6.56362;SRR=8;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EMD:NM_000117:exon2:c.C153A:p.P51P;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000529801;avsnp147=rs782051850;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=8.911e-05;ExAC_AFR=0;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5755;dpsi_zscore=1.206;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.765e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0003;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=4.726e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=9.799e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-375.534,-20.7857,0:207:22:184:5024:500:22,184 . . . . . . . . . . . . . . . . chrX 153609297 . CCTG CG 7339.48 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=417;CIGAR=1M2D1M;DP=480;DPB=280.75;DPRA=0;EPP=38.8839;EPPR=6.01695;GTI=0;LEN=2;MEANALT=21;MQM=30.7266;MQMR=33.4615;NS=1;NUMALT=1;ODDS=406.543;PAIRED=0.959233;PAIREDR=1;PAO=7.5;PQA=188;PQR=18;PRO=0.5;QA=10327;QR=766;RO=26;RPL=159;RPP=54.0477;RPPR=15.0369;RPR=258;RUN=1;SAF=229;SAP=11.7639;SAR=188;SF=0;SRF=5;SRP=24.391;SRR=21;TYPE=del;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EMD;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=EMD:NM_000117:exon6:c.506_507del:p.P169fs;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 1/1:-741.671,-76.96,0:480:26:417:10327:766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 153640156 . A C 20.22 . AB=0.343137;ABP=24.8102;AC=1;AF=0.5;AN=2;AO=35;CIGAR=1X;DP=102;DPB=102;DPRA=0;EPP=48.239;EPPR=19.2411;GTI=0;LEN=1;MEANALT=3;MQM=27.2857;MQMR=30.4068;NS=1;NUMALT=1;ODDS=4.64515;PAIRED=0.942857;PAIREDR=0.966102;PAO=0;PQA=0;PQR=0;PRO=0;QA=564;QR=1517;RO=59;RPL=13;RPP=8.03571;RPPR=48.096;RPR=22;RUN=1;SAF=17;SAP=3.07234;SAR=18;SF=0;SRF=52;SRP=77.5396;SRR=7;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=TAZ;GeneDetail.refGene=NM_001303465:c.-25A>C,NM_181313:c.-25A>C,NM_181312:c.-25A>C,NM_181311:c.-25A>C,NM_000116:c.-25A>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-14.4972,0,-82.394:102:59:35:564:1517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chrX 153640405 . CC CT 15316.70 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=599;CIGAR=1M1X;DP=626;DPB=626;DPRA=0;EPP=49.3;EPPR=3.63072;GTI=0;LEN=1;MEANALT=5;MQM=40.0083;MQMR=41.8571;NS=1;NUMALT=1;ODDS=706.575;PAIRED=0.951586;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=18323;QR=420;RO=14;RPL=295;RPP=3.30394;RPPR=5.49198;RPR=304;RUN=1;SAF=306;SAP=3.62295;SAR=293;SF=1;SRF=7;SRP=3.0103;SRR=7;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=DNASE1L1;GeneDetail.refGene=NM_001009932:c.-6497delG,NM_001009934:c.-6497delG,NM_001009933:c.-6497delG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-1538.55,-147.343,0:626:14:599:18323:420:14,599 . . . . . . . . chrX 153640406 . C T 13368.55 . AB=0.489478;ABP=4.24413;AC=48;AF=0.5;AN=56;AO=628;CIGAR=1X;DP=26822;DPB=1283;DPRA=0;EPP=8.54271;EPPR=19.3602;GTI=0;LEN=1;MEANALT=3;MQM=31.7213;MQMR=32.2022;NS=1;NUMALT=1;ODDS=1874.51;PAIRED=0.888535;PAIREDR=0.920956;PAO=0;PQA=0;PQR=0;PRO=0;QA=16208;QR=15627;RO=544;RPL=258;RPP=46.3844;RPPR=4.60697;RPR=370;RUN=1;SAF=296;SAP=7.49156;SAR=332;SF=0,1;SRF=256;SRP=7.09778;SRR=288;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=DNASE1L1;GeneDetail.refGene=NM_001009932:c.-6497G>A,NM_001009934:c.-6497G>A,NM_001009933:c.-6497G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=0.1711;esp6500siv2_ea=0.2477;esp6500siv2_all=0.1711;esp6500siv2_ea=0.2477;1000g2015aug_all=0.0649007;avsnp147=rs62617809;Kaviar_AF=0.155768;Kaviar_AC=24082;Kaviar_AN=154602;ExAC_ALL=0.2006;ExAC_AFR=0.0359;ExAC_AMR=0.0750;ExAC_EAS=0.0002;ExAC_FIN=0.3642;ExAC_NFE=0.3080;ExAC_OTH=0.2013;ExAC_SAS=0.0523;CLNALLELEID=45455;CLNDN=3-Methylglutaconic_aciduria_type_2|not_specified;CLNDISDB=MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4172;dpsi_zscore=1.741;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1727;gnomAD_exome_AFR=0.0278;gnomAD_exome_AMR=0.0787;gnomAD_exome_ASJ=0.3333;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.2690;gnomAD_exome_NFE=0.2524;gnomAD_exome_OTH=0.1959;gnomAD_exome_SAS=0.0443;gnomAD_genome_ALL=0.1781;gnomAD_genome_AFR=0.0375;gnomAD_genome_AMR=0.0860;gnomAD_genome_ASJ=0.3220;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.2718;gnomAD_genome_NFE=0.2525;gnomAD_genome_OTH=0.2364;Whole_Blood=Whole_Blood::0.221763::0.171814;Liver=Liver::0.301325::-0.274534;ALLELE_END;COSO_score=-1 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-859.221,0,-825.631:1283:544:628:16208:15627 . . . . . 1/1:-945.076,-121.916,0:678:32:550:13580:704 . 1/1:-817.936,-97.5127,0:610:33:488:11732:816 . 0/1:-734.296,0,-1023.12:1303:629:575:14332:18026 1/1:-820.3,-121.989,0:621:23:503:11877:477 . . . . . . 1/1:-841.873,-108.451,0:555:23:464:11475:494 . . . . . . . . . . 1/1:-1168.47,-175.182,0:765:18:651:16231:373 . 1/1:-1076.16,-150.039,0:673:15:560:14495:285 . . 1/1:-1250.46,-166.097,0:797:22:659:16713:480 . . 0/1:-517.568,0,-775.821:965:468:402:10164:13402 . . . . . 1/1:-947.953,-126.669,0:636:19:506:12963:434 . . . 1/1:-1260.02,-178.087,0:834:24:698:17577:587 . 0/1:-676.919,0,-1093.61:1465:740:590:14547:21056 . . . . . . . . . 0/1:-810.677,0,-1500.89:1817:963:700:17463:26916 . . . . . 1/1:-915.104,-116.465,0:579:19:487:12442:430 1/1:-849.584,-111.785,0:604:23:485:11685:492 . . . . . 0/1:-657.702,0,-852.178:1105:530:487:12700:15279 . . 1/1:-1034.29,-135.553,0:708:28:576:14532:584 1/1:-725.604,-96.6745,0:488:14:407:10310:351 . . 0/1:-959.135,0,-1331.41:1802:881:747:19271:24331 1/1:-1118.49,-165.157,0:750:16:614:15377:313 1/1:-1053.89,-132.308,0:708:30:564:13998:659 1/1:-744.501,-94.2798,0:538:26:429:10485:618 . . 1/1:-1130.55,-161.407,0:782:22:637:15527:470 . . . . 0/1:-908.192,0,-1239.47:1575:774:675:17291:21831 1/1:-2697.82,-386.899,0:1636:31:1397:35708:575 . . . . . . . . . 1/1:-2133.6,-218.32,0:908:19:864:25354:562:19,864 . . . . 1/1:-4018.24,-434.082,0:1637:18:1579:47250:529:18,1579 . . . . . . . chrX 153641619 . C T 3459.34 . AB=0.354286;ABP=132.107;AC=5;AF=0.5;AN=8;AO=248;CIGAR=1X;DP=2383;DPB=700;DPRA=0;EPP=15.6539;EPPR=44.8319;GTI=0;LEN=1;MEANALT=3;MQM=32.8952;MQMR=31.1908;NS=1;NUMALT=1;ODDS=548.073;PAIRED=0.887097;PAIREDR=0.92112;PAO=0;PQA=0;PQR=0;PRO=0;QA=5864;QR=12067;RO=393;RPL=193;RPP=169.758;RPPR=164.578;RPR=55;RUN=1;SAF=98;SAP=26.6864;SAR=150;SF=0,1;SRF=145;SRP=61.629;SRR=248;TYPE=snp;technology.ILLUMINA=1;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TAZ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=0.0063;esp6500siv2_ea=0.0089;esp6500siv2_all=0.0063;esp6500siv2_ea=0.0089;1000g2015aug_all=0.00450331;avsnp147=rs41313420;Kaviar_AF=0.0050517;Kaviar_AC=781;Kaviar_AN=154602;ExAC_ALL=0.0060;ExAC_AFR=0.0011;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0100;ExAC_OTH=0.0040;ExAC_SAS=0.0009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3849;dpsi_zscore=1.003;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0049;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0028;gnomAD_exome_ASJ=0.0060;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0089;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0012;gnomAD_genome_AMR=0.0113;gnomAD_genome_ASJ=0.0055;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0028;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-273.81,0,-677.696:700:393:248:5864:12067 . . . 0/1:-259.267,0,-483.727:588:299:248:5634:9028 . . . . . . . . . . . . . . . . . . . 1/1:-502.188,-48.3616,0:408:32:315:7156:819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-525.032,0,-711.123:687:343:308:8459:10770:343,308 . . . . chrX 153642450 . T C 18011.50 . AB=0.475498;ABP=12.6936;AC=1;AF=0.5;AN=2;AO=883;CIGAR=1X;DP=1857;DPB=1857;DPRA=0;EPP=134.236;EPPR=143.89;GTI=0;LEN=1;MEANALT=3;MQM=39.9343;MQMR=39.6835;NS=1;NUMALT=1;ODDS=4147.3;PAIRED=0.956965;PAIREDR=0.955696;PAO=0;PQA=0;PQR=0;PRO=0;QA=27695;QR=30586;RO=948;RPL=362;RPP=65.1813;RPPR=94.6336;RPR=521;RUN=1;SAF=474;SAP=13.4004;SAR=409;SF=1;SRF=504;SRP=11.2564;SRR=444;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TAZ;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TAZ:NM_000116:exon5:c.T383C:p.F128S,TAZ:NM_001303465:exon5:c.T437C:p.F146S,TAZ:NM_181312:exon5:c.T383C:p.F128S;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=0.0191;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0191;esp6500siv2_ea=0.0001;1000g2015aug_all=0.0164238;avsnp147=rs146934311;Kaviar_AF=0.0049029;Kaviar_AC=758;Kaviar_AN=154602;ExAC_ALL=0.0066;ExAC_AFR=0.0615;ExAC_AMR=0.0037;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.151e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=51429;CLNDN=Endocardial_fibroelastosis|Left_ventricular_noncompaction_cardiomyopathy|3-Methylglutaconic_aciduria_type_2|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001706,MedGen:C0014117,OMIM:226000,Orphanet:ORPHA2022,SNOMED_CT:65457005|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.067;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-3.11;FATHMM_pred=D;PROVEAN_score=-3.83;PROVEAN_pred=D;VEST3_score=0.293;CADD_raw=-0.706;CADD_phred=0.070;DANN_score=0.879;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=0.265;MetaSVM_pred=D;MetaLR_score=0.509;MetaLR_pred=D;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=-0.536;phyloP7way_vertebrate=0.669;phyloP20way_mammalian=0.726;phastCons7way_vertebrate=0.048;phastCons20way_mammalian=0.050;SiPhy_29way_logOdds=4.222;GDI_full_10282015=.;dpsi_max_tissue=-1.0191;dpsi_zscore=-1.482;hgmdCODING=HGMD::Left_ventricular_noncompaction#19438153;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM095386#"Left_ventricular_noncompaction";gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0582;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0025;gnomAD_exome_SAS=5.319e-05;gnomAD_genome_ALL=0.0162;gnomAD_genome_AFR=0.0596;gnomAD_genome_AMR=0.0016;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0028;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1830.64,0,-2051.28:1857:948:883:27695:30586:948,883 . . . . . . . . . . . . . . chrX 153648515 . C T 8902.19 . AB=0.453671;ABP=24.3378;AC=1;AF=0.5;AN=2;AO=519;CIGAR=1X;DP=1144;DPB=1144;DPRA=0;EPP=3.21531;EPPR=3.61092;GTI=0;LEN=1;MEANALT=3;MQM=35.2466;MQMR=35.473;NS=1;NUMALT=1;ODDS=2049.8;PAIRED=0.890173;PAIREDR=0.903437;PAO=0;PQA=0;PQR=0;PRO=0;QA=15925;QR=19396;RO=611;RPL=178;RPP=114.174;RPPR=51.6605;RPR=341;RUN=1;SAF=319;SAP=62.2593;SAR=200;SF=1;SRF=348;SRP=28.6877;SRR=263;TYPE=snp;technology.illumina=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TAZ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=9.5e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=9.5e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs371287944;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.503;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-4.8;FATHMM_pred=D;PROVEAN_score=-0.49;PROVEAN_pred=N;VEST3_score=0.18;CADD_raw=2.109;CADD_phred=16.91;DANN_score=0.793;fathmm-MKL_coding_score=0.089;fathmm-MKL_coding_pred=N;MetaSVM_score=0.247;MetaSVM_pred=D;MetaLR_score=0.819;MetaLR_pred=D;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=2.93;phyloP7way_vertebrate=0.868;phyloP20way_mammalian=0.836;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.129;SiPhy_29way_logOdds=7.627;GDI_full_10282015=.;dpsi_max_tissue=4.6100;dpsi_zscore=2.531;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=7.526e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-917.109,0,-1180.76:1144:611:519:15925:19396:611,519 . . . . . . . chrX 153649337 . G A 7035.18 . AB=0.511182;ABP=4.03013;AC=1;AF=0.5;AN=2;AO=480;CIGAR=1X;DP=939;DPB=939;DPRA=0;EPP=5.19987;EPPR=11.7557;GTI=0;LEN=1;MEANALT=3;MQM=32.6021;MQMR=35.5799;NS=1;NUMALT=1;ODDS=1619.91;PAIRED=0.927083;PAIREDR=0.915525;PAO=0;PQA=0;PQR=0;PRO=0;QA=13232;QR=13263;RO=438;RPL=347;RPP=210.187;RPPR=185.771;RPR=133;RUN=1;SAF=194;SAP=41.3006;SAR=286;SF=0;SRF=173;SRP=44.9723;SRR=265;TYPE=snp;technology.ILLUMINA=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TAZ;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TAZ:NM_181313:exon9:c.G741A:p.G247G,TAZ:NM_001303465:exon10:c.G885A:p.G295G,TAZ:NM_181311:exon10:c.G783A:p.G261G,TAZ:NM_181312:exon10:c.G831A:p.G277G,TAZ:NM_000116:exon11:c.G873A:p.G291G;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0068;1000g2015aug_all=0.0015894;avsnp147=rs35902788;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0008;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0066;ExAC_OTH=0.0037;ExAC_SAS=0.0001;CLNALLELEID=51440;CLNDN=Endocardial_fibroelastosis|Left_ventricular_noncompaction_cardiomyopathy|3-Methylglutaconic_aciduria_type_2|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001706,MedGen:C0014117,OMIM:226000,Orphanet:ORPHA2022,SNOMED_CT:65457005|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0060;gnomAD_exome_OTH=0.0052;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0016;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0030;gnomAD_genome_NFE=0.0051;gnomAD_genome_OTH=0.0028;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-0.5 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-737.312,0,-781.827:939:438:480:13232:13263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .